Summary of your 'study carrel' ============================== This is a summary of your Distant Reader 'study carrel'. The Distant Reader harvested & cached your content into a collection/corpus. It then applied sets of natural language processing and text mining against the collection. The results of this process was reduced to a database file -- a 'study carrel'. The study carrel can then be queried, thus bringing light specific characteristics for your collection. These characteristics can help you summarize the collection as well as enumerate things you might want to investigate more closely. Eric Lease Morgan May 27, 2019 Number of items in the collection; 'How big is my corpus?' ---------------------------------------------------------- 907 Average length of all items measured in words; "More or less, how big is each item?" ------------------------------------------------------------------------------------ 43 Average readability score of all items (0 = difficult; 100 = easy) ------------------------------------------------------------------ 64 Top 50 statistically significant keywords; "What is my collection about?" ------------------------------------------------------------------------- 217 PMC 56 Feed 35 University 33 amish 27 Amish 26 SNP 24 Genet 18 patient 17 USA 17 Medicine 15 figure 15 Health 14 cell 13 dna 13 OOA 13 LOD 12 diabetes 12 Research 12 Creveld 10 child 10 Med 10 Fig 10 Ellis 10 BMI 9 table 9 View 9 Journal 8 genetic 8 U.S. 8 Study 8 Physiol 8 Genetics 7 population 7 mitochondrial 7 disorder 7 Allergy 6 mutation 6 health 6 gene 6 Science 6 Press 6 Mennonite 6 LDL 6 Heart 6 Department 6 Cell 6 Cancer 6 CHH 6 CAC 6 Biology Top 50 lemmatized nouns; "What is discussed?" --------------------------------------------- 10584 % 10083 study 7430 p 6354 gene 6201 patient 6068 analysis 6023 cell 5648 o 5423 t 4891 level 4851 a 4843 c 4650 population 4332 g 4210 family 4201 disease 4166 type 4163 datum 4144 group 4098 child 4056 age 4049 effect 3793 n 3708 r 3619 case 3604 individual 3584 e 3580 year 3566 mutation 3403 d 3308 result 3294 value 3280 risk 3236 model 3235 association 3133 time 3015 sample 3006 diabetes 2908 protein 2899 table 2875 i 2865 l 2864 factor 2772 region 2767 number 2669 control 2470 author 2439 variant 2427 h 2383 rate Top 50 proper nouns; "What are the names of persons or places?" -------------------------------------------------------------- 11364 al 9578 � 9378 e 8295 et 7757 J 5395 J. 5376 M 5031 A 4958 C 3890 n 3890 S 3779 d 3740 University 3670 s 3589 Amish 3528 m 3442 M. 3350 t 3097 Research 2884 u 2843 S. 2726 o 2711 D 2700 T 2432 R. 2401 P 2398 N 2388 Genet 2381 Medicine 2288 R 2283 . 2175 K 2164 D. 2105 L 2081 A. 2079 de 2064 C. 2049 G 1929 B 1927 h 1843 r 1835 c 1828 Med 1827 y 1789 P. 1785 H 1778 Health 1741 p 1732 L. 1704 F Top 50 personal pronouns nouns; "To whom are things referred?" ------------------------------------------------------------- 9327 we 6900 it 3535 i 3499 they 1934 he 1162 you 1022 them 1014 she 652 us 336 em 321 one 264 him 242 itself 239 themselves 213 her 170 me 81 himself 60 hg 47 herself 32 de- 25 s 22 ourselves 21 oneself 18 na 16 myself 14 mine 12 http://cebp.aacrjournals.org/ 11 yourself 9 ours 9 hmtppt 8 u 8 p 8 ia 8 i- 7 ile53ser 6 yours 6 theirs 6 kb 6 ifih1 6 ex- 6 apolipoprotein 5 α 5 ya 5 apoe4 4 ’s 4 us- 4 tre2d 4 in- 4 hh 4 hdfs Top 50 lemmatized verbs; "What do things do?" --------------------------------------------- 89864 be 17253 have 9100 use 5076 show 4778 do 4224 include 4162 associate 3053 base 2998 find 2917 identify 2881 increase 2634 report 2563 provide 2328 see 2284 follow 2281 compare 2127 suggest 1867 make 1806 relate 1782 describe 1770 give 1720 observe 1718 perform 1664 affect 1663 � 1658 indicate 1436 cause 1410 consider 1405 know 1386 support 1363 reduce 1345 require 1344 take 1342 lead 1328 result 1321 contain 1310 obtain 1293 publish 1256 develop 1236 determine 1136 demonstrate 1131 remain 1126 detect 1122 measure 1110 represent 1102 define 1087 receive 1084 involve 1082 test 1080 estimate Top 50 lemmatized adjectives and adverbs; "How are things described?" --------------------------------------------------------------------- 10940 not 4938 also 4883 high 4732 amish 4536 other 4329 more 4055 genetic 4017 - 3468 low 3137 only 2830 first 2693 such 2608 however 2534 well 2518 human 2397 clinical 2388 large 2291 specific 2240 most 2231 significant 2030 available 1902 different 1865 early 1861 non 1797 as 1711 small 1613 common 1610 new 1566 same 1558 many 1530 further 1510 normal 1490 wide 1429 similar 1427 old 1419 single 1415 long 1379 then 1344 important 1330 thus 1297 several 1270 total 1246 likely 1240 present 1222 previously 1218 less 1205 religious 1170 significantly 1145 multiple 1109 even Top 50 lemmatized superlative adjectives; "How are things described to the extreme?" ------------------------------------------------------------------------- 700 most 441 least 355 good 282 high 257 Most 203 large 155 low 121 strong 80 great 51 close 49 bad 48 late 45 early 42 near 36 old 30 short 30 long 29 small 19 young 14 common 13 manif 10 big 10 Least 8 simple 7 deep 6 wide 5 postarr 5 hDFs 5 few 5 eld 5 e 5 cisNP 4 weak 4 steep 4 slight 4 fast 3 warm 3 slow 3 ret 3 full 3 cong 3 clear 3 ch 3 broad 3 bright 3 ATPase 2 transcriptome 2 ter 2 subt 2 rich Top 50 lemmatized superlative adverbs; "How do things do to the extreme?" ------------------------------------------------------------------------ 1540 most 404 least 75 well 8 highest 3 hard 2 youngest 2 oldest 2 lowest 2 close 2 11-yr 1 transcriptome 1 sicca 1 s100b 1 long 1 http://www.jwfiles.com/wt_blood/blood.htm 1 http://jap.aip.org/jap/copyright.jsp 1 hmtppt 1 h+ 1 greatest 1 gap- 1 fest 1 fast Top 50 Internet domains; "What Webbed places are alluded to in this corpus?" ---------------------------------------------------------------------------- 1890 doi.org 1816 dx.doi.org 1734 www.ncbi.nlm.nih.gov 1028 refhub.elsevier.com 408 www.cambridge.org 273 creativecommons.org 217 europepmc.org 194 ahajournals.org 161 www.biomedcentral.com 155 www.pnas.org 138 orcid.org 100 jmg.bmj.com 93 crossmark.crossref.org 88 f1000.com 83 genome.cshlp.org 70 www.mdpi.com 70 clincancerres.aacrjournals.org 58 hmg.oxfordjournals.org 55 www.cdc.gov 50 escholarship.org 50 doi 42 diabetes.diabetesjournals.org 40 www.nature.com 38 www 38 academic.oup.com 36 advances.sciencemag.org 34 www.cshlpress.com 34 brain.oxfordjournals.org 33 www.tandfonline.com 33 www.ecologyandsociety.org 32 www.jstor.org 30 cebp.aacrjournals.org 29 jamanetwork.com 28 dnamage.genetics.ucla.edu 27 www.karger.com 27 linkinghub.elsevier.com 27 cid.oxfordjournals.org 25 jtr.sagepub.com 23 jnis.bmj.com 22 www.molvis.org 22 muse.jhu.edu 22 jama.jamanetwork.com 22 github.com 21 www.jci.org 21 scitation.aip.org 20 www.hindawi.com 20 nrs.harvard.edu 20 chs-nhlbi.org 19 www.sph.umich.edu 19 www.broadinstitute.org Top 50 URLs; "What is hyperlinked from this corpus?" ---------------------------------------------------- 217 http://europepmc.org/abstract/MED/ 204 http://www.cambridge.org/core/terms 204 http://www.cambridge.org/core 194 http://ahajournals.org 109 http://creativecommons.org/licenses/by/4.0/ 92 http://jmg.bmj.com/ 68 http://www.pnas.org/lookup/suppl/doi:10.1073/pnas.1902766117/-/DCSupplemental 54 http://clincancerres.aacrjournals.org/ 50 http://doi.org/10.1017/S0950268820002897 50 http://doi 44 http://genome.cshlp.org/lookup/suppl/doi:10.1101/gr.243584.118/-/DC1 38 http://www 38 http://creativecommons.org/licenses/by-nc-nd/4.0/ 34 http://www.cshlpress.com 34 http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/dds555/-/DC1 32 http://doi.org/10.1038/s41467-019-09831-5 32 http://doi.org/10.1017/S002193201600002X 30 http://www.ecologyandsociety.org/vol25/iss1/art24/ 28 http://jamanetwork.com/ 28 http://dnamage.genetics.ucla.edu/ 28 http://creativecommons.org/licenses/by/2.0 27 http://cid.oxfordjournals.org/ 26 http://doi.org/10.1371/journal.pone.0174354 24 http://doi.org/10.1101/19007864doi: 24 http://doi.org/10.1101/19007864 24 http://doi.org/ 24 http://academic.oup.com/aje/advance-article-abstract/doi/10.1093/aje/kwy082/4964639 23 http://www.jstor.org/page/info/about/policies/terms.jsp 23 http://genome.cshlp.org/ 23 http://creativecommons.org/ 22 http://jnis.bmj.com/ 21 http://diabetes.diabetesjournals.org/lookup/suppl/doi:10.2337/db16-0199/-/DC1 21 http://diabetes.diabetesjournals.org 21 http://brain.oxfordjournals.org/ 20 http://www.hindawi.com 20 http://creativecommons.org/publicdomain/zero/1.0/ 20 http://chs-nhlbi.org 19 http://jrmdc.com 18 http://www.biomedcentral.com/ 18 http://bmjopen.bmj.com/ 18 http://advances.sciencemag.org/ 17 http://hmg.oxfordjournals.org/ 17 http://doi.org/10.1101/721704doi: 17 http://doi.org/10.1101/721704 16 http://www.pnas.org/lookup/suppl/doi:10.1073/pnas.1521753113/-/DCSupplemental/pnas.1521753113.sapp.pdf 16 http://www.ncbi.nlm.nih.gov/geo/ 16 http://www.jci.org 16 http://www.R-project.org/ 16 http://mc06.manuscriptcentral.com/cjpp-pubs 16 http://jtr.sagepub.com/ Top 50 email addresses; "Who are you gonna call?" ------------------------------------------------- 17 speidel@wisc.edu 12 fpalm@farmbiol.uniba.it 10 nikolaus.pfanner@biochemie.uni-freiburg.de 10 jh@mrc-dunn.cam.ac.uk 10 amish.patel@seas.upenn.edu 10 alfred.rutherford@cea.fr 10 r.cogdell@bio.gla.ac.uk 9 a.h.crosby@exeter.ac.uk 8 noto-tky@umin.ac.jp 8 ashuldin@medicine.umar 7 robert.jankov@sickkids.ca 7 lu.le@utsouthwestern.edu 7 ashuldin@medicine.umaryland.edu 6 williamk@engr.uga.edu 6 kelle.ramsay@wolterskluwer.com 6 e.baple@exeter.ac.uk 6 drsachinupadhyay@gmail.com 6 bmitchel@medicine.umaryland.edu 5 pubs@aacr.org 5 karger@karger.ch 5 epuffenberger@clinicforspecialchildren.org 5 eleftheria@sanger.ac.uk 4 wbolch@ufl.edu 4 walrefai@uic.edu 4 tpostola@som.umaryland.edu 4 pmcardle@medicine.umaryland.edu 4 patrick.mcnamara@sickkids.ca 4 kstrauss@clinicforspecialchildren.org 4 j.mill@exeter.ac.uk 4 espeliot@med.umich.edu 4 elbeinstevenc@uams.edu 4 doctormvk@gmail.com 4 anr@medicine.wisc.edu 4 acrosby@sgul.ac.uk 4 .pubs@aacr.orgd 3 wang@ddcclinic.org 3 tpollin@medicine.umaryland.edu 3 stamboli@mail.med.upenn.edu 3 schaffer@helix.nih.gov 3 openaccess@ed.ac.uk 3 nsteinle@medicine.umaryland.edu 3 mprovince@wustl.edu 3 mdaue@som.umaryland.edu 3 luis.parada@utsouthwestern.edu 3 judbgil@gmail.com 3 journals.permissions@oup.com 3 jnkatz@partners.org 3 jedrzej.daszkiewicz@degruyter.com 3 g.hanna@imperial.ac.uk 3 fabrizio.marinelli@biophys.mpg.de Top 50 positive assertions; "What sentences are in the shape of noun-verb-noun?" ------------------------------------------------------------------------------- 309 � � � 55 m is h 23 p � .05 22 study did not 19 studies did not 17 studies have also 16 c is not 16 d is e 15 d is c 15 j am soc 14 h is m 13 levels were not 13 studies have not 13 � � ba1.6la0.4 12 cells were then 12 � � abstract 10 levels did not 10 r � � 10 study has several 10 study was not 10 study was sup- 9 analyses did not 9 d is o 9 levels were also 9 � � tam 8 % were e 8 analysis compare d 8 c is slightly 8 d is p 8 d is ta 8 disease had tro 8 disease were nega- 8 level was ade- 8 levels was evident 8 levels were stable 8 patients did not 8 s � g 8 s � p 8 study are available 7 cells were transiently 7 gene are responsible 7 m is si 7 m � � 7 patient did not 7 population based study 7 studies do not 7 study is not 6 analysis did not 6 analysis was also 6 c am b Top 50 negative assertions; "What sentences are in the shape of noun-verb-no|not-noun?" --------------------------------------------------------------------------------------- 8 c is not able 4 c was not significantly 3 levels were not significantly 2 levels did not significantly 2 patient had no focal 2 study does not only 2 study found no evidence 2 study was not able 1 % were not present 1 als have not specifically 1 analyses were not due 1 analyses were not materially 1 analysis indicate no more 1 analysis showed no difference 1 analysis showed no wbcs 1 analysis was not possible 1 cells are not definitely 1 cells are not only 1 cells were not available 1 cells were not present 1 d is not coincidental 1 disease is not always 1 disease is not currently 1 disease is not tightly 1 disease were not eligible 1 diseases do not significantly 1 e is no e 1 gene does not necessarily 1 gene is not fully 1 gene is not present 1 gene is not well 1 gene showed no association 1 genes is not always 1 genes were not homologous 1 level is not sufficient 1 level was not significantly 1 levels are not causally 1 levels are not clear 1 levels are not known.7–9 1 levels did not dif- 1 levels had no effect 1 levels is not ex- 1 levels was not as 1 levels were not asso- 1 levels were not available 1 levels were not different 1 levels were not distinguishable 1 levels were not signifi- 1 levels were not uniformly 1 patient has no signs Sizes of items; "Measures in words, how big is each item?" ---------------------------------------------------------- 40652 work_a4dbwdnlkzf2bfbnu65of6hdei 33020 work_upii4s6ii5hfbp4uhdmthzd7ua 26041 work_zangns3u2vfkrmsmegkffywn2q 25395 work_3qjkqd7ubzh25fweoly6hj6oxe 24145 work_vvlzsj54cvf5de6ji6py6krqlm 24054 work_cojhgivf5baxfetvj6seox3mcu 23918 work_rvix3sliynbgnjytunsne5swuq 23338 work_hz3svybckbf6jas3fjnm3wvsvu 21215 work_6dh4b7u2yzehxnzoucl4stacny 17498 work_7xhwe67ipba2tgzwvqxyqizu44 17435 work_i6rg3dy3hffjrg2qyff72h4jau 17390 work_3eowxynchrah3dm6p4tt6o3i4u 17363 work_ljfplaq5irfcdewmnt3x5rxtlq 17283 work_sk4q4vqhuzeuvhtvk4pclde24e 16945 work_bl6owa5zuzbspj4klcbqfzrvia 16792 work_k4xtsujbu5ef7d7o7zmcvm7tj4 16434 work_wp5rzk3a2vcvpcxwhzc4zfdaem 16287 work_dbstwym7nnga7hsg3aovt6665m 15817 work_7fepazhw4vdtzdz3us34g5r5fy 15580 work_awdm4uorxbeabii75j6mtqfpte 15373 work_72qrcklu2fhb3ogdh5rmgcj4rq 15224 work_rkjwbay5prh7hlu36dshfppp5u 15214 work_mb6c47pnnzhdxbnyc52bsf3edm 14771 work_5hzilpebbffbzjwcwr6bw4676y 14720 work_6a5anf3f6feqtajlr2irurjjqe 14553 work_gltjsmuqpfeypm6xwdzmj5zty4 14464 work_a57g34winbfsjh3ls6vsvj6wmu 14364 work_u34brqdeszcntgbivjryyljfwq 14357 work_wmvyiwhfgvhixp2shq2ooqyhpe 14345 work_vo3seum74fcmdef3awbuqjccam 14342 work_swgs6djcrzagdc2o2jwbjv2z7a 14041 work_2qpnynbyrvdx5kbjfbxii45j2q 13973 work_q552zk7xqfgv5j5puzb7lie3y4 13739 work_554rbvuzungzxehye73gw4x2we 13537 work_7irxg24xeja77jzuujte6iklna 13449 work_tqddavldsrhszcqpvak4judcla 13370 work_nccegy3ysvaznaimw2r6myoxjm 13183 work_hu4hqjbo2fcwnnesgv5a7yatnm 13100 work_og4rr3lfi5ffjikin4bkz66jqm 12880 work_3l6yfmhldvclpefid4rzg5x5ga 12839 work_6i5qreftfvcdvcezhkbsi2udne 12375 work_cahtniadobbrxghnbbjs2o6h5u 12301 work_e2isf66jzzcbhlsugbvdfu62wa 12299 work_mmobajgbqbgnfjaqjlo4walfw4 12171 work_sx6hxzgflbazfohbhxge6p7l64 12049 work_77msucrgz5gu7cu4nr732duv5y 12024 work_5wajvbu6brdaxjiyonvr2gf33u 12000 work_ck5irl2nzbfz7hwds55aoietn4 11985 work_lpformor4zczzejsqd2nnkh4au 11958 work_ulvfxbwnmvhqlbytv5kxqd4o24 11816 work_fzttx47e6vaw3jl4hq4fen4u5y 11793 work_sy6vhuexcvdi3h4okv53r5mknu 11772 work_ei4stnzaj5fhrc25j7xykanray 11770 work_3qyany4qanex7htarbeii7itki 11737 work_t3fjvzge55hftdptbinvjj5qcu 11730 work_dbbvwgi6and2fokqess5tojy2u 11585 work_4brgxcgm6vebzazqmc4vlhbs3a 11529 work_kcqmtroysnbffjrkrrkhjxjglu 11511 work_meu327xhajc5lbq6mm4y5gmgae 11439 work_murbu5kkwfa7hgaat3xgny46xe 11275 work_t32aq22hx5cpjaoanvx7bmjnoa 11263 work_5qc343ij3fgy7mt6gkyxrpqwxu 11196 work_uclz7ulk45dqtgn3p5guu7svae 11146 work_simumtkwk5eizakjsswoju5xwq 11111 work_4qsst55tojalradmelee2emhee 11098 work_bvinbbrjozat7cwicu5w3nemje 11034 work_lax3idzzvbc7bnybg7td7ahgx4 11024 work_ohqidy2xtfabbn5qalj7mhgejm 10857 work_4xdontgeebf4zl5npqlirmzxsi 10804 work_4c6kcgyufbb6bpw3zizl7quoym 10728 work_dgybuusj4fezxb3ofqkkpvek7i 10611 work_ggwlzap76jhgpg5fvdgxhq5okm 10601 work_gt3edidxvjcqznlumiruzhxjb4 10533 work_fisg5sftpbgltjouifx7q3z2vi 10490 work_ob5rbb2645h5lasluv4rrgnlcm 10464 work_5rbnj6bfcjdgvh63hbe3rasgdu 10393 work_oylp4jtv55agnmivcvppcbe2xq 10391 work_gctsgoci5ras7cfi4eb5mxukoi 10375 work_qkfc6bjbbfaqjalmejcpx2p77u 10371 work_gtjtuksqxvhelgtzrkw2lkyr2a 10339 work_5m7y6bxw3fdz7ekk4or6svi5nm 10311 work_hro7jst6azctnba3jo7albxzem 10161 work_457ndknlozgd3dhwpovgmfjrqe 10120 work_jvvndfoxe5gwrngpi6pfays5qi 10023 work_df4xqhw7j5azzfyt2kaqzpee6u 9952 work_wvgvvsttzzgq7aihflu3njy4ty 9941 work_6craq6v3kfam7bh4dea6qjgkvi 9794 work_hknrajcmqnexridbeycywk54gq 9785 work_7n2voym2grhjpocfumswh5tooa 9754 work_sqxob7oiabbsjeegz7pl4bo7hy 9721 work_e24tyzztnretpeadv3jykdoe6i 9696 work_obcc73xod5allmcnuaw5wwrsm4 9692 work_zlydxbcqmraevdjeh6ulvqh32u 9626 work_pbrvjcs2gfftroz7ba3ceecxp4 9613 work_3tbgvx57argrdhegfgdpmrelgu 9554 work_xzn6y75egzdhrdmwox34ehvyca 9510 work_fxajdhp3ebcdtmeqztpet33mc4 9486 work_ph4dgiywsbcinpofn5mvqy7csy 9455 work_rouuffdcnnclxitdwwzdylajue 9322 work_xtlpctdlpreynonngowxc7mloq 9269 work_jkedk6i6fjgh7phg77smo74pdu 9225 work_o4btvfjgwfdtze7ehrivhcvp5i 9189 work_i4zggxltkzdshf4hsbvtb3ifny 9152 work_exfoueomyvcn5iudhzjt47qubm 9068 work_wt3ujyp45bfnlke3cmvm2337g4 9001 work_5cldxgfdznfhjk5icjbvbvmjvm 8992 work_xhug7ctq5jhfbbutft4br3zn5e 8963 work_wfrrqdllknacbclet2fj2ycape 8914 work_hitmdbq6vbcd3jhkivh5m6fa4m 8884 work_cmnqsygqi5fq5fx4avlfdzxiqq 8866 work_c7jttykpwrdjzkl5i3llnocfau 8823 work_gcxruwqvwfhytddhpxc6vmdryy 8812 work_dne3pmjbsbhlzlh4yjsvxcgdva 8778 work_3rdlubgnw5dqhdyeydx44ipxvu 8775 work_tpiqgspaqvfeng2fovbximt4lm 8769 work_oui7m26h25b5blsmdu6xcmwoou 8767 work_qd5oxtscm5akjcukdlffphuzre 8761 work_owpponbjtvdojbvyltjfvae5lu 8758 work_ya6arrpxzreudgbsxnjs6txoui 8757 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----------------------------------------------------------------------- work_22jzuf7huvadvihnagt72zueg4 sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219631486 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:13 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_24mmuprfmjggtgqjbhb3366ube [PDF] A Case of Disseminated Sepsis Caused by an Unusual Microorganism in a Patient With Diabetes | Semantic Scholar Corpus ID: 4510904A Case of Disseminated Sepsis Caused by an Unusual Microorganism in a Patient With Diabetes title={A Case of Disseminated Sepsis Caused by an Unusual Microorganism in a Patient With Diabetes}, journal={Clinical Diabetes : A Publication of the American Diabetes Association}, Patel, +2 authors H. We report a patient with a background of longstanding type 2 diabetes, multiple comorbidities, and an intra-cardiac device, who had life-threatening disseminated sepsis caused by an unusual bacterium. Tables and Topics from this paper Sort by Most Influenced Papers Disseminated Mycobacterium chelonae infection resulting in endocarditis. Disseminated Mycobacterium chelonae infection: Complicating a case of hidradenitis suppurativa Disseminated cutaneous infection with Mycobacterium chelonae in a patient with steroid‐dependent rheumatoid arthritis Catheter Sepsis Due to Mycobacterium chelonae Catheter related line sepsis resulting from Mycobacterium chelonae infection in an immunocompromised host. work_24nbo6pmyjek5ldoverktrmytm sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219640791 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:25 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_273kt2pob5babnlxutypj5z4ri Long Homozygous Chromosomal Segments in Reference Families from the (CEPH), we identified numerous long chromosomal segments of marker homozygosity in many CEPH individuals. progeny in family 884 were homozygous over 5–16 segments with average length 11 cM. In the process, we identified several long segments of noninformative markers in family 884, caused In forming the LOD score, we assumed that the markers were in both linkage and Hardy-Weinberg equilibrium, and we used a simple model for genotyping errors All individuals in family 884 had at least one homozygous segment with a LOD score 14.67. The 14 progeny in family 102 showed 4–12 homozygous segments with average length 18.5 cM and covering, on average, 155 cM (4.4% of the autosomal genome) (table 5). 2.2% of the autosomal genome, indicating a close relationship between her parents; 19 of the other individuals in these families had quite small homozygous segments. work_2aqu5ez7dzcw7lfmf4woz3okj4 First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation offer prenatal diagnosis for PK deficiency to a couple who had a previous child with severe enzyme deficiency and congenital non-spherocytic hemolytic anemia. Red cell pyruvate kinase (PK, EC.2.7.1.40) deficiency is the most common enzyme abnormality in the Embden Meyerhoff pathway of glycolysis in humans. Prenatal diagnosis can be done accurately by analyzing fetal DNA for the mutation causing the enzyme deficiency. mutations in the PKLR gene in a nine-year-old child with severe PK deficiency and identified a homozygous GA substitution at nucleotide 1436, changing arginine to histidine varied; however, once the mutation in the parents and an affected child born earlier is characterized, prenatal diagnosis can be easily done in the first trimester of pregnancy by CVS and Prenatal diagnosis of pyruvate kinase deficiency due to a codon 479 (1436GA) mutation. Prenatal diagnosis of pyruvate kinase deficiency. work_2b4v56zz5fethdtsnduceezdbq [PDF] Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency. Corpus ID: 22599756Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency. title={Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency.}, In glutaric aciduria type 1, glutaryl-coenzyme A and its derivatives are produced from intracerebral lysine and entrapped at high concentrations within the brain, where they interfere with energy metabolism. Figures, Tables, and Topics from this paper Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I View 3 excerpts, cites results and background View 2 excerpts, cites background View 2 excerpts, cites background Type I glutaric aciduria, part 2: A model of acute striatal necrosis Semantic Scholar is a free, AI-powered research tool for scientific literature, based at the Allen Institute for AI. By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_2eonq3srebf5plpmbchadxbzbq sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219634598 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:17 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_2fmeyyxpdvacdokpmzkanrxkru Objective: We sought to explore the genetic and molecular causes of Troyer syndrome, one of several complicated hereditary spastic paraplegias (HSPs). however, we identified 2 Omani families with HSP, short stature, dysarthria and developmental delay— core features of Troyer syndrome—and a novel mutation in the SPG20 gene, which is also mutated in the Amish. Results: Two Omani families carrying a novel SPG20 mutation displayed clinical features remarkably similar to the Interpretation: Null mutations in SPG20 cause Troyer syndrome, a specific clinical entity with developmental and FIGURE 1: Affected individuals carry a homozygous null mutation in the SPG20 gene. cell lines showed that full-length SPG20 protein is missing in the affected individuals (A) compared with a nonaffected in this region (see Fig 1B), SPG20 was the strongest candidate gene, because individuals carrying an SPG20 mutation were affected with a remarkably similar phenotype, a In the brainTABLE: Clinical Features of the Omani Troyer Syndrome Individuals and Comparison with the Amish Cohort work_2iaol6ajebggznoqhcw3yxq3ui Identification of a Sporozoite-Specific Antigen from Toxoplasma gondii | Semantic Scholar Corpus ID: 11310808Identification of a Sporozoite-Specific Antigen from Toxoplasma gondii title={Identification of a Sporozoite-Specific Antigen from Toxoplasma gondii}, Abstract Reduction of risk for human and food animal infection with Toxoplasma gondii is hampered by the lack of epidemiological data documenting the predominant routes of infection (oocyst vs. Sort by Most Influenced Papers CCp5A Protein from Toxoplasma gondii as a Serological Marker of Oocyst-driven Infections in Humans and Domestic Animals View 7 excerpts, cites methods and background View 2 excerpts, cites background Diagnosis of toxoplasmosis and typing of Toxoplasma gondii Identification of stage-specific sporozoite antigens of Toxoplasma gondii by monoclonal antibodies. Identification of stage-specific antigens of Toxoplasma gondii. Toxoplasma gondii: from animals to humans. By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_2ksq4gxpmrfvrpfcavmwrcvwnm International Journal of Pharmaceutical Sciences and Research (IJPSR) INTERNATIONAL JOURNAL OF PHARMACEUTICAL SCIENCES AND RESEARCH It is an open access online and print International Journal published monthly. International Journal of Pharmaceutical Sciences and Research Panchkula (HR), India EMBASE -Elsevier, PubMed (Selected citations), , Thomson Reuters, Web of Science Emerging Sources Citation Index (Jan 2021), Scopus (2014-17), Corss Ref.,HinariWHO, Chemical Abstract, Scirus Elsevier''s, GaleExpanded Academic ASAP, EBSCO, Google, Google scholar, International consortium for the advancement of academic publication (ICAAP), Scientific common, Pharmaceutical Sciences Open Access Resources (PSOAR), Index Copernicus, Ulrich''s International Periodical Directory, ProQuest, New York University Health Sciences Libraries, Research Gate, Open-J-Gate, Geneva Foundation for Medical Education & Research, Ayush Research portal and Genamics Journal Seek. International Journal of Life Sciences and Review www.ijlsr.com Department of Quality Assurance, Delhi Institute of Pharmaceutical Sciences and Research, New Delhi, India. All © 2021 are reserved by International Journal of Pharmaceutical Sciences and Research work_2kutc6k6abfwdlhhton4s7gb2m sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219649305 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:35 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_2mtnmzyb4nap7bpfbin3ahmori RAD Capture (Rapture): Flexible and Efficient Sequence-Based Genotyping improved restriction site-associated DNA (RAD) sequencing protocol and a new method called Rapture (RAD capture). protocol improves versatility by separating RAD tag isolation and sequencing library preparation into two distinct steps. in-solution capture of chosen RAD tags to target sequencing reads to desired loci. sequence capture, i.e., very inexpensive and rapid library preparation for many individuals as well as high specificity in the number and KEYWORDS massively parallel sequencing; restriction-site associated DNA (RAD); sequence capture; genotyping; population genetics; rainbow trout Sequence capture is one method to reduce genome complexity and thereby allow an increased number of individuals Here we develop a much improved RAD sequencing protocol and a new method called Rapture (RAD capture). Our new RAD protocol significantly improved the average number of mapped fragments, the coverage per locus, and the number of loci covered per barcoded work_2n2ksaglcnegnogu5j2ah3wj44 non-Amish (Urban) Infant Fecal Microbiotas Are Highly Diverse and Their Transplantation Lead to Differences in Mucosal Immune Maturation in a Humanized Germfree Piglet Model | Semantic Scholar non-Amish (Urban) Infant Fecal Microbiotas Are Highly Diverse and Their Transplantation Lead to Differences in Mucosal Immune Maturation in a Humanized Germfree Piglet Model}, non-Amish (Urban) Infant Fecal Microbiotas Are Highly Diverse and Their Transplantation Lead to Differences in Mucosal Immune Maturation in a Humanized Germfree Piglet Model}, The gut microbiome plays an important role in the immune system development, maintenance of normal health status, and in disease progression. In this study, we comparatively examined the fecal microbiomes of Amish (rural) and non-Amish (urban) infants and investigated how they could affect the mucosal immune maturation in germ-free piglets that were inoculated with the two types of infant fecal microbiota (IFM). By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_2omcg6c64jgxpmnjhjei3gevx4 sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219649093 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:35 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_2qh5j4w4ejbqbiakjfyfpbm5fa was unexplained until orbital MRI revealed left nerve compression by the gyrus rectus (figure, A), displaced by case is termed pseudo-Foster-Kennedy with indirect compressive optic neuropathy due to brain displacement Author contributions: Ninad Desai: manuscript writing and editing. Figure Optic nerve compression by gyrus rectus and intraventricular mass causing displacement of gyrus http://neurology.org/lookup/doi/10.1212/WNL.0000000000001791 Information about ordering reprints can be found online: http://n.neurology.org/cgi/collection/optic_nerve http://n.neurology.org/cgi/collection/optic_nerve http://n.neurology.org/cgi/collection/primary_brain_tumor http://n.neurology.org/cgi/collection/primary_brain_tumor http://www.neurology.org/about/about_the_journal#permissions http://www.neurology.org/about/about_the_journal#permissions enhancement responsive to steroids (CLIPPERS) features. brainstem lesions.1 A diagnosis of CLIPPERS is difficult in this clinical picture. that CLIPPERS is a primary demyelinating disease. required in steroid-resistant patients with chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS). responsive to steroids (CLIPPERS): postmortem findings. Pseudo-Foster-Kennedy syndrome with optic nerve compression by the gyrus rectus Pseudo-Foster-Kennedy syndrome with optic nerve compression by the gyrus rectus In the NeuroImage "Pseudo-Foster-Kennedy syndrome with optic nerve compression by the gyrus rectus" by N. work_2qpnynbyrvdx5kbjfbxii45j2q of the neonatal immune system which might contribute to the development of early life Key words: Asthma, inflammation, wheezing, immune development pathophysiological features of allergic asthma in both adults and children include airway between lung function and immune responses in early life. A feature of severe asthma in young children is the early presence of airway remodelling – comprehensive study of immune development in urban preschool children determined that high risk children has been associated with reduced responses of T regulatory cells to airway microbiota induces T regulatory cells early in life, and if its development dysregulated Maternal stress is a significant risk factor for wheezing in early life as well as development early in life has a significant influence on the developing immune system impacting on Nagakumar P, Denney L, Fleming L, Bush A, Lloyd CM, Saglani S. innate lymphoid cell activation in the neonatal lung drives type 2 immunity and allergen work_2sw3t37hfncgvgtihaockfne4a Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia is an autosomal recessive disorder, characterized by dwarfism, polydactyly, hypoplastic fingernails and congenital heart defects, finding in most of the cases Maxillofacial private consultation at Alcorcon Southern Hospital, presenting typical oral manifestations such as Key words: Ellis-Van creveld syndrome, chondroectodermal dysplasia, oral manifestations, craniofacial manifestations. Orally, the syndrome features consist of teeth of abnorArticle Number: 55543 http://www.medicinaoral.com/odo/indice.htm patient diagnosed with EVC, presenting the major spectrum of oral features described in literature. Table 3: Oral manifestations of EVC syndrome in literature vs case report (1,5-8,12). Oral manifestations of ellis-van creveld syndrome Oral manifestations of ellis-van creveld syndrome Oral manifestations of ellis-van creveld syndrome Oral manifestations of ellis-van creveld syndrome Oral manifestations of ellis-van creveld syndrome Oral manifestations of ellis-van creveld syndrome Manifestations in Ellis-van Creveld Syndrome: Report of a Case and Ellis-Van Creveld syndrome in siblings: A rare case report. dysplasia (Ellis-van Creveld syndrome): a case report. work_2upcs447pnf2lhzmd2qsj5uglu with it has probably delayed the discovery of other variants in TCF7L2 that may affect risk of type 2 diabetes. genotyping SNPs previously associated with type 2 diabetes, they used information from HapMap (19) to select a factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. 7-like 2 (TCF7L2) gene and type 2 diabetes in the Chinese population. the impact of TCF7L2 gene variants on type 2 diabetes and adaptive 5. Florez JC: The new type 2 diabetes gene TCF7L2. (TCF7L2) gene are associated with type 2 diabetes in the Amish: replication and evidence for a role in both insulin secretion and insulin resistance. Bergman RN, Mohlke KL, Collins FS, Boehnke M: Association of transcription factor 7-like 2 (TCF7L2) variants with type 2 diabetes in a Finnish factor 7-like 2 (TCF7L2) gene are associated with type 2 diabetes in an the association of TCF7L2 with susceptibility to type 2 diabetes in a work_2w7jhaaouncwdgi67vreph4ffy In April 2015 the Intercollegiate Advisory Committee for Sedation in Dentistry (IACSD) of the Dental Faculties of new Standards for conscious sedation in the provision of dental care which includes sedation training for the whole dental team. training of the entire dental team.''1 Intravenous conscious sedation opportunity to treat 20 patients with intravenous sedation under closely supervised dental sedation wishing to progress to independent (unsupervised) practice but it would conscious sedation to their skill set. 1. Standards for Conscious Sedation in the Provision of Dental Care. (l-r) Sheena Quille (dental nurse), Amish Patel (course member), Emily Sherwin (supervisor), Chris Vondee The Faculty of General Dental Practice The Faculty is recommending that dental must apply to be included in the dental applies to inclusion in the HSCB dental list in https://www.rcseng.ac.uk/fds/publications-clinical-guidelines/docs/standards-for-conscious-sedation-in-the-provision-of-dental-care-2015 https://www.rcseng.ac.uk/fds/publications-clinical-guidelines/docs/standards-for-conscious-sedation-in-the-provision-of-dental-care-2015 Course report: Intravenous conscious sedation training for the whole team Course report: Intravenous conscious sedation training for the whole team work_2y2oewkf3jarnink3p6e7qejq4 sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_2y7e5eitqnb4xn4lj5anwvvlpi n this issue, an analysis of the primary care workforce predicts that the United States will need not all primary care physicians practice full time in primary care physicians of 48 offi ce visits with patients patients with acute cough in primary care.4 • A birthing center located in a rural family practice serving Amish women offers childbirth care Department of Family Medicine and Community Health, Case Western Reserve University, Cleveland, Ohio that many patients appear willing to undergo preventive care on the basis of "overly optimistic expectations Projecting US primary care physician workforce needs: able care organizations, the patient-centered medical Studies suggest that patients, clinicians, and society often hold unrealistic expectations about the Hudson et al3 surveyed 977 primary care patients and Patients'' expectations of screening and preventive treatments. survey of primary care physicians in the United States. care and specialist perspectives on prostate cancer screening. care and specialist perspectives on prostate cancer screening. work_34yv2fcmhndefkyl5n3vbww4de Intermittent hypoxia during recovery from neonatal hyperoxic lung injury causes long-term impairment of alveolar development: A new rat model of BPD Intermittent hypoxia during recovery from neonatal hyperoxic lung injury chronic neonatal lung injury; bronchopulmonary dysplasia; oxygen we sought to refine a rat chronic lung injury model secondary analyses of mean chord length (A), tissue fraction (B), and peripheral artery counts (C) (n � 6 animals/group). In conclusion, exposure of juvenile rats to IH during recovery from hyperoxia-induced chronic neonatal lung injury AJP-Lung Cell Mol Physiol • doi:10.1152/ajplung.00463.2016 • www.ajplung.org AJP-Lung Cell Mol Physiol • doi:10.1152/ajplung.00463.2016 • www.ajplung.org AJP-Lung Cell Mol Physiol • doi:10.1152/ajplung.00463.2016 • www.ajplung.org AJP-Lung Cell Mol Physiol • doi:10.1152/ajplung.00463.2016 • www.ajplung.org AJP-Lung Cell Mol Physiol • doi:10.1152/ajplung.00463.2016 • www.ajplung.org AJP-Lung Cell Mol Physiol • doi:10.1152/ajplung.00463.2016 • www.ajplung.org AJP-Lung Cell Mol Physiol • doi:10.1152/ajplung.00463.2016 • www.ajplung.org AJP-Lung Cell Mol Physiol • doi:10.1152/ajplung.00463.2016 • www.ajplung.org work_355lhfzwjjgcbmemooz7nmp4dm Ileal apical Na+-dependent bile acid transporter ASBT is upregulated in rats with diabetes mellitus induced by low doses of streptozotocin Ileal apical Na�-dependent bile acid transporter ASBT is upregulated in rats Annaba F, Ma K, Kumar P, Dudeja AK, Kineman RD, Shneider BL, Saksena S, Gill RK, Alrefai WA. Ileal apical Na�-dependent bile acid transporter ASBT is upregulated in rats with diabetes Our data showed that ASBT mRNA and protein expression were significantly elevated in diabetic rats. diabetic rats reversed the increase in ASBT protein expression to that ASBT function and expression are increased in rats with STZinduced diabetes mellitus. examine changes in ASBT function in diabetic rats, we measured the Na�-dependent transport of [3H]TC in isolated epithelial cells. Apical Na�-dependent bile acid transporter (ASBT) expression is increased in diabetes mellitus. Insulin treatment to diabetic rats reversed the increase in ASBT protein expression to the level of control rats. work_3ai6k4agffgebddc7pkfr2n2fi Analysis of 2,490 U.K. diabetic case and 2,556 control subjects revealed no significant associations at either genotype or haplotype level: revealed no consistent case-control or family-based associations with LMNA variants. nly a limited number of genes with reproducible evidence of association with type 2 diabetes have been described. U.K. case resource, ascertained for type 2 diabetes diagnosed before age 65 years; and 350 exclusively British/ U.K. control genotype data for LMNA-region SNPs (minor Family-based association tests (Table 3) were performed in all 1,170 members of the full set of 390 parentoffspring trio pedigrees (see online appendix). between LMNA SNPs and type 2 diabetes (data not not associated with type 2 diabetes in any of the samples LMNA SNPs were associated with type 2 diabetes (all P � COMMON VARIATION IN LMNA AND TYPE 2 DIABETES COMMON VARIATION IN LMNA AND TYPE 2 DIABETES work_3aodg7ltdrb63kymcyey272mhy Imaging Research Center | UC Davis School of Medicine News | Careers | Giving | UC Davis Health The main facility, opened in 2003 and located at the UCD Medical Center campus in Sacramento, the IRC houses two research-dedicated whole-body MRI scanners, a 1.5T GE Signa MRI System and the new 3T Siemens Trio MRI System. A new satellite facility located in Davis named the "MRI Facility for Integrative Neurosciences" opened in 2011 and houses a Siemens 64-channel 3-Tesla "Skyra" MRI System. The Imaging Research Center operates three MRI scanners: Siemens Trio 3-Tesla scanner in Sacramento Siemens Skyra 3-Tesla scanner in Davis GE Sygna 1.5-Tesla scanner in Sacramento Imaging Research Center in Sacramento Imaging Research Center in Sacramento Imaging Research Center in Davis Imaging Research Center in Davis Imaging Research Center Imaging Research Center Imaging Research Center Imaging Research Center work_3ayddumy7neklm3i5w5l2g3lnq Background: High levels of triglycerides (TG ≥200 mg/dL) are an emerging risk factor for cardiovascular disease. Conversely, very low levels of TG are associated with decreased risk for cardiovascular disease. records (EHRs), for APOC3 19X mutations among adult European American patients (> 45 and > 55 years of age for Conclusions: In this patient population, we identified two patients who were carriers of the APOC3 19X null variant, de-identified EHRs. Triglyceride levels (TG) are a common biomarker measured in the clinic, and patients with Table 3 Genetic risk scores, unweighted and weighted, by case status among European American patients with very low We calculated unweighted and weighted genetic risk scores (GRS) based on 37 SNPs and previous association estimates in European Americans with and without Interestingly, one of the two APOC3 19X carriers identified here has evidence in the EHR of a myocardial infarction, revascularization, and other heart disease. work_3bv67mz2ofdrrmgmhssmwr5wpq sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219646862 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:32 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_3bwtv5c24nhuhmr5lwk5fbquu4 Isolated populations can empower the identification of rare variation associated with complex Illumina HumanExome Beadchip, in search of functional coding variants associated with lipids variant in APOC3, with increased high-density lipoprotein and decreased triglycerides levels. discovery of this lipid traits signal at genome-wide significance in a small sample size. MANOLIS study (Supplementary Table S1), we find genomewide significant evidence for association with common-frequency Genome-wide statistical association evidence for HDL in MANOLIS. Table 1 | CETP variants associated with HDL levels in MANOLIS. across B100,000 individuals has also identified robust associations between a common-frequency variant (rs964184) 51.5 kb low-frequency variant associations in traits of medical relevance. with lipid traits by genome-wide association study (for example, A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates APOC3 variant associations with lipid traits APOC3 variant associations with lipid traits work_3dgiykyrzzcfxo2hhepejgcgum thousands of species-diagnostic markers would allow precise estimates of populationand individual-level admixture as well as identification of ''super invasive'' alleles, which These staggered paired-end reads can be assembled into a ''mini-contig'', a continuous stretch of genomic sequence that is longer than each individual read hybridization and RBT admixture was previously estimated in several populations using seven diagnostic microsatellite loci (Boyer et al. Because of our pooling strategy, the consensus sequences in this reference set of RAD contigs represent primarily WCT with minimal RBT admixture. 63 061 577 RAD sequence read pairs across 94 individuals in five admixed WCT populations. Fig. 3 (a) Frequency histogram of consensus sequence lengths across 77 141 contigs assembled by CAP3 from overlapping pairedend restriction-site-associated DNA (RAD) sequencing in admixed westslope cutthroat trout populations. Table 1 Correlation between previous microsatellite and current single nucleotide polymorphism (SNP)-based estimates of individual-level admixture proportions, and super invasive alleles exhibiting significantly elevated introgression with a false discovery rate work_3enugoxbl5embbrkrwchq5qk2e Material and Methods The clinical trials relevant to norepinephrine versus dopamine in treatment of septic shock were electronically searched in the databases of Pubmed, Embase, the Cochrane Library, Web of Science, Google scholar and CNKI. Objective The aim of this study was to investigate the clinical significance of serum homocysteine (Hcy) as a biomarker for early diagnosis of diabetic nephropathy (DN) in type 2 diabetes mellitus (T2DM) patients. In case of problems, please contact the Managing Editor of this journal (jedrzej.daszkiewicz@degruyter.com). Unpublished material: Submission of a manuscript implies that the work described is not copyrighted, published or submitted elsewhere, except in abstract form. The corresponding author grants the journal the license to use of the article, by signing the License To Publish. The Editors reserve the right to decline the submitted manuscript without review, if the studies reported are not sufficiently novel or important to merit publication in the journal. work_3eowxynchrah3dm6p4tt6o3i4u Maturational Patterns of Systolic Ventricular Deformation Mechanics by Two-Dimensional Speckle Tracking Echocardiography in Preterm Infants over the First Year of Age septum (IVS) strain mechanics by 2DSTE in healthy uncomplicated preterm infants not IVS GLS were significantly lower in preterm infants with BPD compared to uncomplicated from 32 weeks to one year CA in preterm infants with BPD (slope of change comparison imaging in preterm infants from birth through 28 days and 36 weeks PMA, respectively. maturation patterns of ventricular strain in uncomplicated preterm infants based on postnatal Maturational Patterns of Myocardial Strain in Uncomplicated Preterm Infants Maturational Patterns of Myocardial Strain in Uncomplicated Preterm Infants Maturational Patterns of Regional Myocardial Strain in Uncomplicated Preterm Infants Maturational Patterns of Regional Myocardial Strain in Uncomplicated Preterm Infants Maturational Patterns of Ventricular Strain in Uncomplicated Preterm Infants Maturational Patterns of Ventricular Strain in Uncomplicated Preterm Infants work_3fdcvvuvjfbdjpvw2jwjhg5lfm The use of tranexamic acid to reduce blood loss in uncemented total hip arthroplasty for avascular necrosis of femoral head: a prospective blinded randomized controlled study of administration of intravenous tranexamic acid (TXA) for reducing blood loss in uncemented total hip arthroplasty Results: The intraoperative, postoperative, and total (clinical method and Gross'' formula) blood loss were Keywords: Tranexamic acid, Osteonecrosis, Total hip arthroplasty, Deep vein thrombosis We hypothesized that a single pre-incisional dose of intravenous tranexamic acid reduces blood loss associated with We found that there were significant differences between the two groups with regard to the amount of intraoperative blood loss (p < 0.0001) and postoperative intraoperative blood loss in the tranexamic acid group. blood loss between tranexamic acid and control groups. blood loss after THA in patients receiving tranexamic bolus of tranexamic acid on blood loss in total hip replacement. Tranexamic acid reduces blood loss in total hip work_3frtwtp5vfbrthycubt7mjzonq Ellis-van Creveld Syndrome and Congenital Heart Defects: Ellis-van Creveld syndrome (EvC). [1], we found that CHD surgery for patients with EvC This incidence is substantially higher than that reported in the study by Hills et al. In addition, all those surviving surgery experienced postoperative respiratory morbidity (prolonged need for supplemental oxygen, prolonged the patients presented in our recent article, Ellis-van Creveld The Pediatric Cardiac Care Consortium is indeed limited in terms of the long-term follow-up data available. For some patients, additional follow-up data are available, with the reporting of subsequent cardiac catheterizations or surgeries. report, three patients died after cardiac catheterization The hospital length of stay for surgery-only admissions for all the patients in our study was 2.5 years (range, 5 days I appreciate the additional cases presented by Drs. O''Connor and Collins and Ellis-van Creveld Syndrome and Congenital Heart Defects: Presentation of an Additional 32 Cases work_3ihra3tqvffazfsfxzb6sd3yme sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219643883 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:28 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_3ixcieingvhevcnbndytocbuva [PDF] A randomized controlled trial of prochlorperazine versus metoclopramide for treatment of acute migraine. Corpus ID: 6407986A randomized controlled trial of prochlorperazine versus metoclopramide for treatment of acute migraine. title={A randomized controlled trial of prochlorperazine versus metoclopramide for treatment of acute migraine.}, We compare prochlorperazine 10 mg intravenously versus metoclopramide 20 mg intravenously for the emergency department (ED) treatment of acute migraine. Intravenous sodium valproate versus prochlorperazine for the emergency department treatment of acute migraine headaches: a prospective, randomized, double-blind trial. Randomized, placebo-controlled evaluation of prochlorperazine versus metoclopramide for emergency department treatment of migraine headache. Intravenous chlorpromazine in the emergency department treatment of migraines: a randomized controlled trial. View 2 excerpts, references methods and background View 2 excerpts, references methods and background By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_3knropq5xbal7kh5gbr3fraxae Objective—Metabolic syndrome is associated with increased risk for cardiovascular disease and type 2 diabetes mellitus The lamin A/C (LMNA) gene, mutations of which cause rare syndromes of severe insulin resistance and Diabetes Study, the H566H polymorphism of LMNA was associated with metabolic syndrome diagnosed according to differences in haplotype frequencies among subjects with metabolic syndrome T2DM, IGH, and controls. Metabolic syndrome is characterized by the presence of �3of the following characteristics: abdominal obesity, elevated triglyceride concentrations, low high-density lipoprotein of age.1 Metabolic syndrome is associated with increased risk of severe insulin resistance, diabetes, dyslipidemia, and atherosclerosis,26 making LMNA an excellent positional candidate gene for are associated with diabetes, metabolic syndrome, and related levels), we estimated mean trait levels according to LMNA genotypes, whereas for the qualitative traits (metabolic syndrome, T2DM, LMNA in subjects with diabetes from Amish families, providing evidence for linkage to chromosome 1q21-q24. work_3l6yfmhldvclpefid4rzg5x5ga anticapsular antibody in sera from adults immunized with meningococcal polysaccharide vaccine conferred to protect rats, but antibody at the same or fivefold-lower dose in a serum pool from a group of children antibody responses of children and adults vaccinated with meningococcal polysaccharide vaccine with the ability of the serum antibody to confer passive protection. a negative serum from an unimmunized adult with no detectable group C anticapsular antibody and three serum pools prepared from sera of immunized highest doses tested for passive protection against the OAc-negative and -positive strains, respectively) were assigned a value of 0.4 �g/rat. Table 2 summarizes the serum bactericidal antibody responses measured against two group C test strains: 4243, which Group C serum antibody responses of adults and children immunized with meningococcal polysaccharide vaccine Group C serum bactericidal titers of adults and children immunized with meningococcal polysaccharide vaccine Group C anticapsular antibody concentrations of selected preand postimmunization sera or serum pools work_3lnxpztexfhvnfnpqze66fgmam detected decreased ssTnT protein (down by �39%) in diaphragm muscle of cTnI-KO/cTnI-ND double transgenic mice significantly decreased number of type 1 fibers in 3–5-monthold ssTnT-KD mouse diaphragm muscle (�52% of the wild the ratio of slow/fast fiber in the young adult ssTnT-KD diaphragm muscle (�0.2) versus that in wild type control (�0.5) The optimal frequencies at which the maximal tetanic force was generated in wild type and ssTnT-KD diaphragm muscles were around 120 and 140 Hz, respectively. in the wild type and ssTnT-KD mouse diaphragm muscle strips showed that aging wild type and ssTnT-KD diaphragm muscles Deletion of a Genomic Segment Containing the Cardiac Troponin I Gene Knocks Down Expression of the Slow Troponin T Gene and Impairs Fatigue Tolerance of Diaphragm Muscle* Deletion of a Genomic Segment Containing the Cardiac Troponin I Gene Knocks Down Expression of the Slow Troponin T Gene and Impairs Fatigue Tolerance of Diaphragm Muscle* work_3o2zebofbnbsnkygqtyqmh7z7y half of the book is concerned with nosology, and an aqueduct stenosis; while others lead to the degenerative-occasionally familial-disorders of scrapie, kuru, spina bifida, mentioning the facts that only a small proportion of like-sexed twins are concordant for neural tube subsequent genetic counselling are so important. atrophy, and small mandible; an example of the DyggveMelchoir-Clausen syndrome with mental deficiency; All that Sir Macfarlane Bumet writes must be treated treatment of genetic disease; the immunological basis of population control. a more technical level the book is noteworthy in emphasizing the author''s view of the importance of somatic accepting that a disease has a genetic cause and reminds disorders such as PKU and notes ''it will probably be On population problems he is equally pessimistic. believes it necessary to get back to a global population of The control of population he regards as quite absolutely inadequate; it is population control or work_3ogwt4atxzbuxhb7edgd6pn234 and a case study is presented where separate education for an ethnic influenced ethnic-education programs in public schools or have created "hew" ethnicity--have sought to use education in formal schools, in groups or movements seeking to influence ethnic-education ideology, changes in the educational goals and program autonomy of ethnic groups We must go to Europe, however, for examples of relatively highstatus ethnic minorities that control separate educational programs in The Swede-Finn Ethnic Movement in Finland Swedish masses into active participation in a Swedish nationality movement to secure their heightened perception of the ethnic-threat-survival include all Swedish-speaking Finns within an ethnic solidarity group where caused, they further Claimed, an overproduction of Swedish-speaking university students in comparison to the total Swede-Finn population. organized efforts of the whole Swedish ethnic movement. Evaluation: Educational Contributions to the Swedish Ethnic Movement Swedish-ethnic educational activities have, perhaps, contributed most 1937 The Swedish Nationality Movement in Finland. work_3ok3bni7cbcnblh3g72nmi5kdm sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219637974 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:21 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_3pvmnzhhtndxfmxc34o2hs2fxm [PDF] Green tea catechin EGCG inhibits ileal apical sodium bile acid transporter ASBT. Corpus ID: 7365731Green tea catechin EGCG inhibits ileal apical sodium bile acid transporter ASBT. title={Green tea catechin EGCG inhibits ileal apical sodium bile acid transporter ASBT.}, Green Tea Polyphenol EGCG Alleviates Metabolic Abnormality and Fatty Liver by Decreasing Bile Acid and Lipid Absorption in Mice Modulation of ileal apical Na+-dependent bile acid transporter ASBT by protein kinase C. Cholesterol modulates human intestinal sodium-dependent bile acid transporter. Fadi Annaba, Zaheer Sarwar, +5 authors W. Fadi Annaba, Zaheer Sarwar, +5 authors W. View 9 excerpts, references methods and background View 9 excerpts, references methods and background Semantic Scholar is a free, AI-powered research tool for scientific literature, based at the Allen Institute for AI. By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_3q6gaksiq5aalodig7aoi7qnoe sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219641798 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:26 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_3qjkqd7ubzh25fweoly6hj6oxe • In order to evaluate the performance of each considered NOMA-based network, outage probability analytical results which are important to evaluate the performance of NOMA-based wireless network. analytical expressions for achievable sum-rate in order to evaluate the performance of the proposed user problem of user pairing in uplink NOMA systems is studied in [72] for two network settings under in [81] proposed an optimized scheme to jointly obtain user pairing and power allocation in order authors proposed optimal power allocation for NOMA systems which guarantees fairness among superior performance of the proposed NOMA-based network over a conventional cooperative OMA The problem of resource allocation for NOMA-based single cell heterogeneous (multi-tier) networks power allocation in order to maximize the energy efficiency for NOMA-based SCMT CN. Al-Abbasi, Z.Q.; So, D.K. User-pairing based non-orthogonal multiple access (NOMA) system. Sum-Rate Maximization Problem in NOMA-Based GD2D Networks Sum-Rate Maximization Problem in NOMA-Based GD2D Networks Sum-Rate Maximization Problem in NOMA-Based GD2D Networks work_3qyany4qanex7htarbeii7itki Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci approach to discover new common genetic variants associated with insulin sensitivity is to perform GWAS using a removing lower-frequency SNPs in model 3, a sensitivity analysis was performed using the MAC ,20 filter on a cohortwise basis in both the discovery and replication cohorts. approach in model 3 (10), and with direct measures of insulin sensitivity were included in these analyses (7). To analyze the association with fasting insulin and ISI in a comparable sample, we also examined the subset of discovery cohorts that excluded given its high heterogeneity) with fasting insulin and ISI in a subset of the discovery cohort. sensitivity signal rs2943641 (IRS1) (10), and the association with the ISI in model 2 was greatly reduced by conditioning rs13422522 on rs2943641 in the discovery cohort work_3rdlubgnw5dqhdyeydx44ipxvu is determined entirely by culture, whereas subjective predisposition towards religion is influenced by genetic endowment. Keywords: religion; fertility; evolution; genetic predisposition; cultural hitch-hiking; evolution view is that the existence of religion promotes the evolution of genes that predispose people towards religious is evidence that the rise of complex human culture in general has greatly accelerated the pace of genetic evolution, Another channel through which religion might influence genetic evolution is via its impact on fertility. If most of the children born within a high fertility group remain in the eventual size of the high fertility group, but their longrun genetic implications may be similar. Throughout the analysis we shall assume that fertility is an entirely cultural phenomenon: genes affect the Effect of fertility on the evolution of religion and genes. How religious defections influence social and genetic evolution. growth of a high-fertility religious group. population who belong to high-fertility religious groups work_3rixlisrvnb4fgpp6dnvm5dgse giant arteriovenous hemodialysis fistula: a case report In a patient undergoing regular hemodialysis through an arteriovenous fistula access, pleural hemodialysis, who presented with a giant brachiocephalic AV fistula in his left arm and progressive velocity blood flow through the fistula, thereby establishing the cause of the unilateral hemothorax. for hemothorax in a dialysis patient are also discussed in this case report. High flow through the arteriovenous fistula is recognized as an uncommon cause of unilateral hemothorax fistula and a same sided hemorrhagic pleural effusion. X-ray revealed a massive pleural effusion on the left side Following ligation of the fistula, the patient''s left sided pleural patient – a giant AV fistula, acute onset massive pleural high venous flow through the arteriovenous fistula, stenosis and/or thrombosis of the brachiocephalic and/or of the chest (PA-view), taken 6-weeks after ligation of the fistula, showing resolution of the pleural effusion with no recurrence. JP: Hemorrhagic pleural effusion in patients undergoing work_3t3ykl4vwfawdlokw7k534wcgu Mobile CT System, Varian EDGE radiosurgery system cone beam CT (CBCT), Philips Brilliance Big Bore 16 slice CT simulator, and Siemens SOMATOM Definition AS 20 slice CT transfer function, scaling discrepancy, geometric distortion, spatial resolution, overall uniformity, minimum uniformity, contrast, high CNR, and maximum HU deviation were Localization accuracy and CT Dose Index were measured and compared to reported values on each imaging device. Patient localization accuracy is particularly important in proton beam radiation therapy due to the sharp dose fall-off compared to conventional x-ray AIRO, images were acquired with soft, standard, and sharp reconstruction kernels with the pre-set clinical head protocol. discrepancy, geometric distortion, spatial resolution, overall uniformity, minimum uniformity, contrast, CNR, and maximum HU deviation (Table 2).14 The mean and standard deviation of five or more AIRO/Philips image quality differences were within 3% for overall uniformity, minimum uniformity, and contrast and high CNR. work_3tbgvx57argrdhegfgdpmrelgu Horse Manure Management by Commercial and Old-Order Amish Equine Operators: Economic and Conservation Implications The Amish were more likely to use manure for crop production, to indicate that was why they had Keywords: Amish; equine; horse; manure management; value-added; water quality the operators, their access to equipment for manure management and composting, and their operations, the Amish are more likely to understand and appreciate manure''s value as a nutrient source For a variety of reasons, commercial equine operations may have issues with manure management. and their operations, the Amish may be more able to realize the potential of horse manure or composted Commercial operations were significantly more likely to pile manure and compost than the Amish, Commercial equine operators were more likely to market manure products than compost compared to Amish farmers, partly due to the latter ''s use of horse manure in crop production, work_3ynmmi73c5b2dppp4h463edeka Early signs of the disease included mild intrauterine growth restriction, infantile hypotonia, and irritability, followed by failure to thrive and short stature. The early onset or recurrence of strokes secondary to cerebral vasculopathy seems to always be associated with poor Through a genomewide homozygosity mapping study and mutational analysis, we identified a genetic variation in the SAMHD1 Partial pedigree of the family with SAMHD1 gene mutation associated with cerebral vasculopathy. indicate affected individuals included in the genetic mapping study and sequence analysis. Clinical features of 14 patients with the homozygous mutation in SAMHD1 gene of strokes, and for the four severely affected patients, the onset Additional clinical features in individual patient with the homozygous mutation in SAMHD1 gene intron 12 and exon 13 boundary revealed that all affected individuals (n = 14) were homozygous for the mutation, their Identification of the disease-causing mutation in SAMHD1 gene. work_3yrvcyehofhlndpvse6pmr7swa end of the first act communicates the power of this aborning musical style lose the Ferguson and the Black Lives Matter material, which is worthwhile but badly anachronistic in a play intended to capture a moment 40 deal of the play is given over to what one might call the geographic question: whether the white mother should even attempt to raise such a child to be mentioned and play only a small role in how these characters deal but it does enable some presentation of the way things may actually work The most ambitious play in this year''s Festival may have been the play was presented as an act of raconteur-dom anyway, which presupposes an audience, there was no fourth-wall problem when The Woman in the world of the play, however, it seems most likely that her example The very end of the play reopens that question. work_42xw7n3z25fulmzgvlwj3ebrsa Manic Depressive Illness and Tyrosine Hydroxylase Gene: Linkage Heterogeneity and Association | Semantic Scholar Corpus ID: 10880668Manic Depressive Illness and Tyrosine Hydroxylase Gene: Linkage Heterogeneity and Association title={Manic Depressive Illness and Tyrosine Hydroxylase Gene: Linkage Heterogeneity and Association}, Sort by Most Influenced Papers Analysis and metaanalysis of two polymorphisms within the tyrosine hydroxylase gene in bipolar and unipolar affective disorders. No Evidence of an Association Between Tyrosine Hydroxylase Gene Polymorphisms and Suicide Victims HARUKI HATTORI Linkage between tyrosine hydroxylase gene and affective disorder cannot be excluded in two of six pedigrees. RFLP alleles at the tyrosine hydroxylase locus: No association found to affective disorders Molecular genetic evidence for heterogeneity in manic depression Tyrosine hydroxylase gene not linked to manic-depression in seven of eight pedigrees. By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_43l7x3wyt5gt5b3ezr5bkby6xi Selected Topics Search content by concept Advanced search and filter tools Journals/Magazines Open Access Journals Microbiology Resource Announcements™ Subscription Journals Clinical Microbiology Reviews® Journal of Clinical Microbiology® Microbiology and Molecular Biology Reviews® Subscribe to ASM Journals Microbe Magazine Microbe Magazine Current Issue Current Issue Microbe Magazine, Cover Image /deliver/fulltext/microbe/5/8/znw329a.html?itemId=/content/journal/microbe/10.1128/microbe.5.329.2&mimeType=html&fmt=ahah /content/journal/microbe/10.1128/microbe.5.329.2 -contentType:Journal -contentType:Contributor -contentType:Concept -contentType:Institution Librarian details I need to refer to this publication frequently This publication is an essential resource for my studies/research I''m an author/editor/contributor to this publication I''m a member of the publication''s editorial board eventtype:PERSONALISATION;jsessionid:MUuQA78UoDCZDEdZYbfYMT_U.asmlive-10-241-2-16;itemid:http://asm.metastore.ingenta.com/content/journal/microbe/10.1128/microbe.5.329.2;timestamp:1617673116527 Invalid site public key — Recommend this title to your library Your recommendation has been sent to your librarian. Open access content Subscribed content About ASM Public Access Policy Publications Individual Member Journal Subscriptions Journal of Microbiology & Biology Education® Journal of Microbiology & Biology Education® Please enter a valid email address Approval was partially successful, following selected items could not be processed due to error work_44k7hj6bk5gqdb56gneyrwhyz4 sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_44vmple4f5gunasyggaaqhz5t4 sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219636850 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:20 If you need further help, please send an email to PMC. Include the information from the box above in your message. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_457ndknlozgd3dhwpovgmfjrqe activities of a specific Mennonite group in Belize called the Kleine Gemeinde organisational change in the Mennonite settlement of Spanish Lookout, Belize'', system of the Kleine Gemeinde Mennonites in Spanish Lookout in Belize, Hall (1980, analyse communities or even settlements like the Belizean Mennonites, because Colony Mennonites and the Kleine Gemeinde, who live in Belize, have their origin in the Western Belize with the Mennonite community of Spanish Lookout, Jantzen (1987) notes Mennonites and the progressive church communities like the Kleine Gemeinde and the Shipyard, Little Belize and Indian Creek are Old Colony Mennonite based settlements The Kleine Gemeinde Mennonites of Spanish Lookout are progressive in their on an internal network of members of the Kleine Gemeinde Mennonite community. (2007) ''Mennonite communities in Belize'', International Journal of Business and (1987) Mennonites in Belize: A Case Study of the Spanish Lookout Community, (1980) ''Agriculture in the Kleine Gemeinde community of Spanish Lookout Belize'', work_457qjehmmrapfgd2cssmx4aphu Benchmarking of five commercial deformable image registration algorithms for head and neck patients Given two datasets with inherent differences, DIR algorithms are capable of quantifying these differences and minimizing them by creating a new deformed image, the result Because DIR algorithms are based on complex mathematical models, there is no guarantee that the deformation defined by the DVF will any third-party algorithm may then be compared to the known ground truth to obtain the deformation error for each image voxel. Registration error statistics for all of the voxels contained within the spinal cords of the virtual phantoms. Registration error statistics for all of the voxels contained within the left parotids of the virtual phantoms. Registration error statistics for all of the voxels contained within the right parotids of the virtual phantoms. through the ground-truth and test DVFs. 35 Pukala et al.: Benchmarking of DIR algorithms 35 work_45exwtryazgfvgtelrby5jmywa chromosome 17q detected in prenatal diagnosis. prenatally; postnatal cases with a similar chromosomal anomaly subtelomeric regions showed two normal signals (Fig. 4), confirming array-CGH data. Partial 17q duplication is a rare anomaly, and most of the patients reported in literature have undergone postnatal analysis Karyotype shows a duplication of the long arm of chromosome 17. Most cases of partial trisomy for the distal region of 17q are due Array-comparative genomic hybridization profile of the duplicated region. parative genomic hybridization showing the presence of a duplication of chromosome OMIM genes located in the duplicated region 17q23-25. OMIM genes located in the duplicated region 17q23-25. Duplication of 17q region as sole chromosome anomaly reported in literature and in The authors have no conflicts of interest relevant to this article. diagnosis of mosaicism for partial trisomy 8: a case report including fetal diagnosis of Cri du Chat syndrome associated with partial trisomy 17q. work_4af3j6m5kna7dgdb3lucnikaba sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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MKKS mutations in four typical BBS PAP, mild mental retardation, morbid obesity (BMI >50 and 37, respectively), lobulated kidneys with prominent calyces and the MKKS region12 confirmed homozygosity at 20p12 in both affected individuals. male proband (the offspring of consanguineous parents) with reduced visual acuity, PAP, obesity and cystic kidneys, and a A fourth BBS family consisted sibling with RP, PAP, obesity, lobulated cystic kidneys and diabetes mellitus. family 4 were heterozygous for this mutation. MKKS is expressed in tissues affected by BBS, including retina, homozygous frameshift mutations are present in three BBS families. MKKS mutations in BBS patients (4/34 Identification of MKKS as a BBS gene Mutations in MKKS cause BardetBiedl syndrome Human Genome Research Institute, NIH, known germline CDH1 mutations4 (Fig. 1a). Methylation of the CDH1 promoter as Mutations in MKKS cause Bardet-Biedl syndrome work_4bl45cqyjjctrbsygtz2kz2v44 Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands Ellis –van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, nail dysplasia, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations. have been identified in patients with Weyers acrodental dysostosis, which are clustered in the last coding exon of bodies of primary cilia and analysis of an Ellis –van Creveld mouse model, which includes the limb shortening and tooth abnormalities of EvC patients, has demonstrated Hedgehog signaling defects in the absence of Evc. The loss We conclude that the phenotypic abnormalities in EvC and Weyers syndrome result � 2009 Wiley-Liss, Inc. KEY WORDS: Ellis –van Creveld syndrome; Weyers acrodental dysostosis; EVC; EVC2; hedgehog identified in EvC patients shortly thereafter [Ruiz-Perez et al., 2003; Galdzicka with the mutations found in each exon in Ellis– van Creveld patients shown above. EVC2 EXON22 MUTATIONS Mutations Identified in EVC2 in Weyers Patients work_4brgxcgm6vebzazqmc4vlhbs3a Morrison, AC, Liu, C, Mendelson, MM, Uitterlinden, AG, van Meurs, JB, Franco, OH, Zhang, G, Li, Y, Starr, JM, McRae, AF, Hou, L, Just, AC, Schwartz, JD, Vokonas, PS, Menni, C, Spector, TD, Shuldiner, A, methylation analysis identifies loci for blood pressure regulation'', American Journal of Human Genetics, vol. https://www.research.ed.ac.uk/portal/en/publications/dna-methylation-analysis-identifies-loci-for-blood-pressure-regulation(f1619028-b3be-49a7-adf2-cc320b8e44b5).html DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation associations of systolic and diastolic BP with blood-derived genome-wide DNA methylation measured on We conducted genome-wide DNA methylation meta-analyses for systolic and diastolic BP with a Each cohort estimated the associations of IVs with systolic BP, diastolic BP, and DNA methylation at the Gene Expression Associations with Replicated CpG Sites and Blood Pressure Traits We identified an effect of BP on DNA methylation at four of the 13 replicated CpG sites: ZMIZ1 Table 5 Genes in a cis-region (+/1Mb) of replicated CpG sites 1) associated with DNA methylation in meta-analyses of FHS and RS at FDR Q work_4c6kcgyufbb6bpw3zizl7quoym How They See Us: Perceived Effects of Tourist Gaze on the Old Order Amish Although abundant literature focuses on tourism impact perspectives, folk communities'' perceptions of tourist gaze and its this discourse, this study investigates perceived impacts of tourist gazing within the framework of resistance theory. tourist gaze; folk community; sociocultural impact perceptions; resistance theory; Old Order Amish Influence of tourism on local communities has been extensively examined within the context of social and cultural Early studies have suggested that tourism creates a distinct type of tourist gaze and locals struggle to deal with it study examines perceived impacts of tourist gazing within Information was elicited on Amish perceptions of tourist gaze and its impact on their community. This study endeavors to locate Amish community local gaze and the resulting resistance to tourist In regard to the first research question about Amish perceptions of why tourists gaze at them, authentic products and work_4daytbcywrcjxehq5a37bk47ce Summary — A stimulating variety of papers on genetic and elinical research in psychiatry was discussed at the latest meeting of the that extreme caution must be taken in interpreting linkage studies of psychiatrie disorders. of receptor genes that hâve been implicated in the pathogenesis of psychiatrie disorders. In some cases, gene régulation may be tissuedependent, as is suggested by the alternative splicing of D, receptor mRNA. genetics / linkage / manic-depressive illness / Amish / Alzheimer''s diseuse / schizophrenia / D2 receptors / American Psychiatrie As­ Thirdly, questions arise concerning thc exceptional genetic isolate that is studied and the gcneralization of linkage results beyond this highly inbred mapping o f genes for manic-depressive disease : studies o f chromosomes 5 and 11. Gurling H (1990) Genetic linkage and psychiatrie disease. (1988) Genetic linkage studies in Alzheimer''s disease A (1990) Linkage studies in familial Alzheimer''s work_4fhj3cgszbhhdljl2mdlo7rjna association (GWA) analysis (4,5) in 4300 Sardinians to identify genetic factors affecting a series of quantitative traits, Using all available genotypes, the association test showed SNP rs17680137 as more Those results were also replicated in the Amish population, where the only two haplotypes associated with bilirubin association with total, conjugated and unconjugated bilirubin. Evidence of (A) association with serum total bilirubin and (B) linkage disequilibrium around the SLCO1B3 locus. Again, the association with unconjugated bilirubin at SNPs association of bilirubin levels with the SLCO1B3 gene. The table describes the allele and genotype frequencies in a data set of unrelated healthy (total bilirubin ,1 mg/dl) and hyperbilirubinemia patients, Association with total, conjugated and unconjugated bilirubin of SNPs in the SLCO1B3 and SLCO1B1 genes The table summarizes association results with total, conjugated and unconjugated bilirubin for SNP rs4149056 and SNP rs2306283, polymorphisms in In the SardiNIA stage 2 the association with bilirubin levels work_4ftkuu62dfawnhsxhre4huc4ty sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_4g7nw6gflvdndjaxrl6563rvze sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219647463 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:33 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_4gebz6phdncnhgkccxtyrso4ny Ellis van Creveld Syndrome (Chondroectodermal Dysplasia Syndrome) in a Gurkha Family JR Army Med Corps 1988; l34: 126-127 Case Report Ellis van Creveld Syndrome, (Chondroectodermal Dysplasia Syndrome) in a Gurkha Family SUMMARY: The first reported case of Ellis van C reveld syndrome in a Gurkha child is described , and the implications ec todermal dysplasia (affectin g the hair , teeth and Case Report Labo ur st arted spo ntaneously a t 35+3 weeks by dates The firs t stage took 7 hou rs 4S second stage took 6 minutes. Post mortem view of the right hand showing .. showing nail dysplasia and polydactyly. E llis van C reveld syndrom e carrie s a mortality of a Ne palese family , it s impli ca tion s for these fannin g low s tatus becau se bo th o f th e ir babi es so far ha ve died. work_4gnwoknljneg3napwnlsxk3siy identify psychiatrically well Amish children at higher risk of Q Do frequencies of potential early prodromal clinical features for bipolar I (BPI) disorder in psychiatrically well Amishchildren correlate with family history, and therefore inferred risk, of BPI? Children with one BPI parent were significantly more likely to have 7 children with well parents (AR: 12% for BPI family child v 3% for control family child; p = 0.0007). Assessors identified more of the children with one BPI parent as frequencies in psychiatrically well Amish children with one parent whether children designated as ''''at risk'''' do eventually develop BPI. symptoms that may be prodromal for bipolar disorder. on selected prodromal bipolar symptoms or prospective data on such symptoms in children from affected families, none has used a community Of clinical importance, they found that children with bipolar parents children of non-bipolar parents, are described. bipolar risk in children with subsyndromal symptoms combined with work_4k74kvxnzrclnjhdno4jlodxqq Practical consensus recommendations on duration of adjuvant hormonal therapy in breast cancer | Semantic Scholar Corpus ID: 14015493Practical consensus recommendations on duration of adjuvant hormonal therapy in breast cancer title={Practical consensus recommendations on duration of adjuvant hormonal therapy in breast cancer}, Optimization of adjuvant systemic therapy in women with early-stage hormone receptor-positive breast cancer includes the consideration of chemotherapy and duration of hormone therapy. Adjuvant hormonal therapy significantly improves long-term survival of breast cancer patients with hormone receptor-positive disease. Tables and Topics from this paper Sort by Most Influenced Papers American Society of Clinical Oncology technology assessment on the use of aromatase inhibitors as adjuvant therapy for postmenopausal women with hormone receptor-positive breast cancer: status report 2004. Adherence to adjuvant endocrine therapy in postmenopausal women with breast cancer. Use of tamoxifen for breast cancer: twenty-eight years later. Randomized trial of two versus five years of adjuvant tamoxifen for postmenopausal early stage breast cancer. work_4kpp3sx3fje5vnphypu52xtzl4 molecular mechanism of function of SSSF proteins. molecular modeling constrained by experimentally determined intramolecular distances and template restraints derived from the tenhelix core of the vSGLT crystal structure [2]. [3] resulted in an ensemble of helix bundle structures. external loop (eL) 9 of PutP upon sodium and/or l-proline binding. and/or l-proline binding site(s) similar as previously proposed for eL Mitochondrial carrier structure and diseases Mitochondrial carrier structure and diseases To date eleven disorders are known to be caused by defects of mitochondrial carriers, a family of proteins that shuttle a variety of metabolites revealed the existence in mitochondrial carriers of a substrate-binding mutations of the mitochondrial carriers. Palmieri, C.L. Pierri, FEBS Lett. E-mail: fabrizio.marinelli@biophys.mpg.de molecular modeling to investigate the occupancy and specificity of the ion binding sites in NCX_Mj, and the microscopic mechanism by which Na+ and Ca2+ are exchanged across the membrane. [3] T.M. Kang, D.W. Hilgemann, Nature 427 (2004) 544–548. http://dx.doi.org/10.1016/j.bbabio.2012.06.105 http://dx.doi.org/10.1016/j.bbabio.2012.06.105 http://dx.doi.org/10.1016/j.bbabio.2012.06.105 work_4ldntkp77jfjnmlmcm7k3evaoq sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219637768 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:21 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_4mxjqs5bg5cw3luohrrxibabna as the use of telecommunication devices to remotely monitor patients Wearable devices and telemonitoring are becoming increasingly widespread in the clinical environment and have many applications in the Wearable fitness monitors and telemonitoring have been used in the community to mobilise patients with peripheral Peripheral vascular disease, wearable technology, personalised medicine, telemedicine, digital health physical activity and set daily step-count prescriptions for patients wearable device as a tool for screening activity levels in patients to monitor daily physical activity and set exercise prescriptions based ABPI = ankle–brachial pressure index; IC = intermittent claudication; NA = not available; PAD = peripheral artery disease; PS = prospective study; QoL = quality of life; RCT = randomised controlled trial; SEDRIC which is Structured EDucation for Rehabilitation in Intermittent Claudication; SET = supervised exercise therapy; WAM = wearable activity monitor. Table 2: Characteristics and Validation Study Findings for Wearable Blood Pressure Monitoring Devices work_4nwic5f4ard4rn4veassldliou sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219630630 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:12 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_4nyjjpjeerbo7a26pcjmqw3d5m this study was to determine the effects that residents'' self-assessment and specific feedback from faculty learning goals as stemming from the residents'' self-assessments, feedback, or both. Forty-seven percent of the learning goals were generated by the residents'' self-assessments only, while On followup, the numbers of learning goals from self-assessment and feedback were equal (25% each, 13 of 52), proportion of learning goals acted upon stemmed from both feedback and self-assessments in actual results and desired outcomes.6–9 Although learning goals should be created through reflection, it is critical that learners incorporate feedback from evaluators educational intervention study using an oral board scenario as a basis for self-assessment, feedback, and While the resident completed the self-assessment form, the examiner completed the feedback checklist and ABEM scoring form (Data Supplement S2). Following the self-assessment and feedback delivery, the resident was asked to generate SMART learning goals in work_4nyxqwhwevg6vk7pqgwtws5ah4 Studies were performed on lymphocytes obtained from several large Amish families. disequilibrium with HL-A antigens suggests that genes controlling the expression of B lymphocyte antigens are linked these sera, we explored the possibility of serologically identifying antigens specific for human "B" lymphoid cells in two Cytotoxic reaction of sera to isolated T and B lymphocytes from wife and husband in Le Bouf family Two families were studied to determine if the serologic reactions to B lymphocytes were associated with or linked to In Family 2, the serologic reactions again followed a pattern indicating HL-A haplotype association. of non-HL-A antigens on human peripheral blood lymphocytes. Summary of results of specific B lymphocyte serologic reactions in two families different B lymphocyte antigens were detected with the sera Family 2 this serum reacts with B cells from those individuals possessing the W29, W10 HL-A haplotype. antigens in these sera and that B lymphocytes may express work_4pt4yq6ehnafvbnyj6leyfkemy Results: Of 1404 enrolled women intending home births, those women beginning labor with the intention of delivering at home, 102 (8.3%) were transferred to the hospital A prospective evaluation of home birth outcomes in the practices of certified nurse-midwives in Nurse-midwifery practices providing home birth services were identified by a mailed Table 2 describes the sample of women intending a home birth. history of pregnancy-induced hypertension (5.1%), assisted vaginal delivery (7.2%), stillborn fetus or neonatal death (3.1%), low birth weight infant (2.1%), or One hundred eighty-three women left or were referred out of the home birth practice during the pregnancy and prior to labor at term. fetal demises diagnosed at the first labor status evaluation by the attending midwife and referred immediately for hospital birth, there were three fetal or infant addressed nurse-midwifery home birth practice outcomes.30 Intrapartum and neonatal mortality rates in Perinatal Deaths in Other Studies of Home Birth*† work_4qsst55tojalradmelee2emhee Language can similarly be used for the mailnumance Oi ethnic boundaries in order to keep memberswithin the group. In this paper, I would like to examine the phenomenon of group bilingualism, the origin of the contact situations which lead to it, and it serves a variety of functions which need to be considered for an adequate understanding of the social oansequences of group bilingualism. Not so with folk bilingualism which is the result of ethnic groups, in contact and competition within a single state, group or grows from the society-wide network of institutions and associations," and the third to "the degree of control exercised by dominant on the other hand, is an aspect of moral learning,,reaffirming the solidarity and cultural uniqueness of the ethnic group, underscoring the need Group bilingualism is frequently accompanied by language shift to 4. It should be pointed out somewhere that many members of the ethnic groups discussed in this paper do shift languages and assimr work_4qtjvy3idnc4df56lz7ur6nega was used to classify eyes into categories using a modified Clinical Age-Related Maculopathy Staging (CARMS) Repeatability and heritability of choroidal thickness and its phenotypic and genetic correlations with the AMD phenotype (CARMS category) were estimated using a generalized linear mixed model (GLMM) approach Main Outcome Measures: Heritability of choroidal thickness and its phenotypic and genetic correlation with Results: Phenotypic correlation between choroidal thickness and CARMS category was moderate (Spearman''s rank correlation, rs ¼ �0.24; n ¼ 1313 eyes) and significant (GLMM posterior mean, �4.27; 95% credible However, because the genetic correlation between choroidal thickness and AMD severity To assess the use of choroidal thickness as an AMD endophenotype we quantified (1) its overall phenotypic correlation with the Scatterplots showing the phenotypic correlation of (A) Clinical Age-Related Maculopathy Staging (CARMS) category and (B) subfoveal Phenotypic but not genetic correlation between choroidal thickness and AMD has been work_4sa2mic6gbcmtosrinvlu2p2gy Percutaneous mechanical assist for severe cardiogenic shock due to acute right ventricular failure Acute right ventricular failure can lead to severe cardiogenic shock and death. ventricular device primarily utilizing the right internal jugular vein for out flow cannula VC 2014 Wiley Periodicals, Inc. Key words: heart failure; right ventricular function; shock; cardiogenic The typical configuration for left ventricular support is placement of the inflow cannula in The outflow cannula is positioned in the pulmonary artery via the right internal jugular vein. patients had outflow cannulae placed via the right internal jugular vein plus femoral vein approach, whereas Hemodynamic data preand post-pRVAD placement was available for all patients (Table III). RV, right ventricle; IABP, intra-aortic balloon pump; sLVAD, surgical left ventricular assist device. assist device therapy is an option for patients with refractory cardiogenic shock due to right ventricular assist device as support for cardiogenic shock due to right ventricular infarction. work_4sbeoptkajha3fr5lmwcuvihiq [PDF] Characterizing surface wetting and interfacial properties using enhanced sampling (SWIPES). Corpus ID: 53695227Characterizing surface wetting and interfacial properties using enhanced sampling (SWIPES). Materials Science, Physics, Medicine We introduce an accurate and efficient method for characterizing surface wetting and interfacial properties, such as the contact angle made by a liquid droplet on a solid surface, and the vapor-liquid surface tension of a fluid. The method makes use of molecular simulations in conjunction with the indirect umbrella sampling technique to systematically wet the surface and estimate the corresponding free energy. Sort by Most Influenced Papers Recent advances in estimating contact angles using molecular simulations and enhanced sampling methods Molecular dynamics simulations of the contact angle between water droplets and graphite surfaces Wetting on physically patterned solid surfaces: the relevance of molecular dynamics simulations to macroscopic systems. Molecular dynamics simulation of the contact angle of liquids on solid surfaces. work_4sgrybrer5eu5pmhhgtvfr3s3a Leukotriene B4 mediates macrophage influx and pulmonary hypertension in bleomycin-induced chronic neonatal lung injury hypertension in bleomycin-induced chronic neonatal lung injury. Rat pups were exposed to bleomycin (1 mg·kg�1·day�1 ip) or vehicle (control) from postnatal days These studies demonstrated maximal inhibitory effect of SC57461A on lung LTB4 content macrophages (normalized to tissue fraction) secondary to bleomycin were increased by day 7 of exposure (Fig. 2C), to a Exposure to bleomycin for 7 days had no effect on LTB4 content (data not shown); montelukast did not prevent bleomycin-induced PHT, as evidenced by a lack of effect on PVR (Fig. 5A) and Fulton indexes SC57461A completely prevented the bleomycin-induced increase in lung LTB4, which was unaffected by montelukast. being no increase in lung CysLT content secondary to bleomycin exposure (Fig. 3B), CCL4 was found to be significantly Bleomycin-induced pulmonary hypertension was prevented by SC57461A, a leukotriene (LT) A4 hydrolase inhibitor, but not by work_4vbs7gzb2bg7fhqvpad7uluygu sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219643696 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:28 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_4w7jpcmndjbidftd3wjppkmjzq sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219644158 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:29 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_4xdontgeebf4zl5npqlirmzxsi studies have investigated the risk factors for childhood asthma, with a Asthma, wheezing, environmental, factors, prevention There is evidence indicating a consistent detrimental effect of prenatal exposure and postnatal environmental smoking on childhood wheezing illnesses. (prenatally, i.e. during pregnancy, and during early life) is considered a substantial risk factor for childhood allergic diseases. Another study found that 21% of infants hospitalized for RSV bronchiolitis had asthma at age 6 years, compared year of life reduces recurrent wheezing in children aged 1 to definitive large-scale randomized clinical trial (RCT) measuring the effect of the prevention of RSV on childhood asthma had an increased risk for developing allergies and asthma. study, cesarean section increased the risk of childhood asthma asthma/recurrent wheeze prevention in early life. risk factors to prevent childhood asthma. in early life predict asthma development in high-risk children. Additive Effects of Maternal and Infant Risk Factors on Childhood Asthma. work_4xhctqyko5dlpenvjlfk2mggsi Books: Chasing the Sun: The New Science of Sunlight and How it Shapes Our Bodies and Minds Chasing the Sun: The New Science of Sunlight and How it Shapes Our Bodies light therapy for the treatment of skin Nothing New Under the Sun, dismissed role of the sun in the development of our circadian rhythms do not fully develop until biological rhythms are shifted later, making night and get up in time for school. generally have well-developed rhythms, circadian rhythms for our health, Geddes natural light than the rest of us, and Geddes In complete contrast, Geddes describes with our circadian rhythms, Geddes travels Saving Time, which curtails teenagers'' adverse effect on their exam results. Geddes ends her travels where she had of the sun and its importance for the saw his last patient of the day, a 66-year a cold November day David Sellu was Life & Times work_4xjwvhh2nfe2hptu7xhpvl7xgu (2) What is the sensitivity and specificity for different cutoffs for body pain diagram region categories in between painful body region categories and mean scores the number of painful body regions and measures of OArelated pain, function, pain catastrophizing, and mental Studies have shown that pain catastrophizing, greater medical comorbidity, lower educational the association between body region categories and OArelated pain and function and mental health scores. body region pain score in relation to the PCS using a value Overall, we found modest associations between the continuous measure of body region scores and number of comorbidities, we observed associations between increasing number of painful body region categories and Outcome Regional body pain diagram groups p Value Is There an Association Between Whole-body Pain With Osteoarthritis-related Knee Pain, Pain Catastrophizing, and Mental Health? Is There an Association Between Whole-body Pain With Osteoarthritis-related Knee Pain, Pain Catastrophizing, and Mental Health? work_52qzyjupezgkjgu3zflmlhhlkm [PDF] Commentary: physical activity and weight control. Corpus ID: 1082755Commentary: physical activity and weight control. title={Commentary: physical activity and weight control.}, References 1 Luke A, Cooper RS. Physical activity does not influence obesity risk: Time to clarify the public health message. Sort by Most Influenced Papers Authors'' response to commentaries on ''physical activity does not influence obesity risk''. Obesity and energy balance: What is the role of physical activity? Accelerometer-measured physical activity is not associated with two-year weight change in African-origin adults from five diverse populations The role of physical activity and exercise in obesity and weight management: Time for critical appraisal Long-term Effects of Physical Activity Level on Changes in Healthy Body Mass Index Over 12 Years in Young Adult Women. View 1 excerpt, cites background View 1 excerpt, cites background View 3 excerpts, references background Semantic Scholar is a free, AI-powered research tool for scientific literature, based at the Allen Institute for AI. work_53jcvw2e6zdmrbwlezruxivuyi Professor of Medical Genetics emeritus at Motulsky, Victor was a founder of the discipline of medical genetics. of World War II, he was able to enter medical school after only three years at Tufts In 1973, Victor succeeded Harvey as the William Osler Professor of Medicine and physician-in-chief of the Johns paper in the New England Journal of Medicine into OMIM, the online version now maintained by the National Library of Medicine The Journal of Clinical Investigation http://www.jci.org Volume 118 Number 10 October 2008 3243 The Journal of Clinical Investigation http://www.jci.org Volume 118 Number 10 October 2008 3243 for Medical Genomics and Genetics. Division of Medical Genetics, Department of Medicine, University of Pennsylvania Center for the Integration of Genetic Healthcare Technologies, University of Pennsylvania School of Medicine, 2. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, and National Center Medical genetic studies in the Amish: work_554rbvuzungzxehye73gw4x2we Hence, the value of individual clinical variables to determine the likelihood of acute appendicitis in a patient is low [23, 24]. studies regarding this specific patient group that non-operative treatment was associated with fewer complications Delaying an appendectomy increases the risk of perforated appendicitis, which is associated with higher incidence of short and long-term morbidity [125–127]. Antibiotic prophylaxis has been proven effective in prevention of superficial surgical site infections and intra-abdominal abscesses in patients with appendicitis [130–132]. Alış H (2013) Comparison of open and laparoscopic appendectomy in uncomplicated appendicitis: a prospective randomized clinical trial. review and meta-analysis of randomized controlled trials comparing single incision versus conventional laparoscopic appendectomy. laparoscopic appendectomy for acute appendicitis: systematic Laparoscopic versus open appendectomy in complicated appendicitis: a review of the NSQIP database. Laparoscopic appendectomy for acute appendicitis is more surgery for acute appendicitis: multicentre Cohort Study, systematic review, and meta-analysis. work_56vcqxxymzemha3rjfsu3otz3i Two new studies report that triglyceride (TG)-lowering mutations in APOC3 reduce coronary heart disease Here, we explore limitations of using Mendelian randomization to evaluate CHD risk, including potential confounding by the widespread use of statin therapy. that were associated with a 39% reduction in plasma TG levels (Crosby et al., association with CHD in 110,097 individuals from 15 different studies. (A) Reduction in CHD risk associated with genetic variants (blue circles) and pharmacological agents are associated with a greater reduction in CHD compared to that seen in statin trials. represents the CHD reduction (�46%) that is predicted for a loss-of-function mutation in APOC3 (B) Effects of APOC3 loss-of-function variants on circulating lipid and lipoprotein levels and on CHD. A factor that may mask the contribution of plasma LDL-C levels to the reduction in CHD in APOC3 carriers is statin effects of LDL-C on CHD risk and the association between APOC3 mutations work_5a4tnrrcnvarni4pmsxbnadj4u sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219633715 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:16 If you need further help, please send an email to PMC. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_5b5ethzhpzf7tegn2q3u6e7jpa sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219640735 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:25 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_5cldxgfdznfhjk5icjbvbvmjvm Keywords: Asthma; epidemiology; hygiene hypothesis; environmental exposure; house dust mite research on the role of environmental factors in allergic diseases, especially asthma. Gary WK Wong ,3 Zhigang Liu,2 Charles Wang,1,5 Zhong Su ,4* Jing Li 1* recent study reported that the prevalence of asthma was lower in Amish children in a high In China, the prevalence rates of asthma and other allergic diseases have been increasing (particularly traditional farms) early in life has significantly reduced the prevalence of asthma accountable for the farm environment-associated protection against development of asthma.60 can increase the prevalence of asthma in children by affecting the gut microbiota and other factor-β (TGF-β) levels in breast milk have protective effects against asthma in children.101,102 Increasing prevalence of allergic rhinitis but not asthma among children in exposures on the prevalence of atopy and asthma in urban vs rural children in India. microbiota in non-farm homes protects children from asthma development. work_5ctcwys6vfgcdmesinklpyr3ue sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_5fhxavbrofgo3lktypbqc6ukua Intrahepatic cholestasis in two Omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V) | Semantic Scholar Corpus ID: 21814324Intrahepatic cholestasis in two Omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V) title={Intrahepatic cholestasis in two Omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V)}, Tian, Wenjing Liu, Yeming Yang, Xianjun Zhu View 2 excerpts, cites background View 2 excerpts, cites background A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis. Characterization of mutations in ATP8B1 associated with hereditary cholestasis View 2 excerpts, references background View 2 excerpts, references background View 2 excerpts, references background View 2 excerpts, references background View 2 excerpts, references background Genetic cholestatic liver diseases: the example of progressive familial intrahepatic cholestasis and related disorders. By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_5foxdwr6pvbmper7twmbf5lqxa Oral Health Status, Knowledge, and Practices in an Amish Population Oral Health Status, Knowledge, and Practices in an Amish caries experience, periodontal health, and oral hygiene filled surfaces (DMFS), periodontal index (PI), and simplified oral hygiene index (OHI-S). study population emphasize the need for dental public Key Words: Amish, caries, periodontal disease, oral The oral health of numerous contemporary a n d indigenous populations has been studied in different nations (1-11). health status of the Amish population, which differs Amish population due to the small numbers of participants in the study and potential selection bias. related to oral health knowledge, 44 percent to dental ratio for the 5-17-year-old age group in the study population was 62.6 percent. Low levels of dental caries found in Amish children population consists primarily of irregular dental attenders, a high D/DMFS ratio, indicating unmet restorative needs, was expected in Amish children. work_5fxxbyw2kbcwjkc776wm566tdm sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219635612 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:18 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_5hzilpebbffbzjwcwr6bw4676y GWAS of common complex diseases are, perhaps surprisingly, found in long-lived individuals, who may tolerate them by means of protective genetic factors. numbers of healthy long-lived individuals to look simultaneously at both common and rare alleles, with impeccable control for population stratification and consideration longevity and healthy aging in humans, including the definition and heritability of these traits, and linkage, association, and sequencing studies. Case/control molecular genetic studies of longlived or healthy aged individuals often compare elderly Other candidate genes have been associated with longevity or healthy aging phenotypes in some but not all For studies of longevity and healthy aging, in particular, differences in phenotype or type of than genetics on healthy aging, it seems unlikely that differences in lifestyle are not confounding association studies healthy aging and longevity: a population-based study from Linkage studies of longevity and healthy aging Linkage studies of longevity and healthy aging work_5ijemqftd5dmfnzibt7xcnufti BACKGROUND: Gastrointestinal tract (GI) is the most frequently involved extra nodal site in non-Hodgkin''s lymphoma alone in treatment of primary GI-NHL and to compare the results with combined CT + surgery. DESIGN: Retrospective analysis of case records of GI NHL patients. was done in 58% (45) of patients to establish a diagnosis or as primary or debulking treatment. patients with primary GI-NHL. Key Words: Primary non-Hodgkin''s lymphoma of gastrointestinal tract, chemotherapy. In this study we have analyzed 77 patients of primary All patients where primary surgery Table 1: Clinical features and patient German trial, of 371 patients with primary GI-NHL stomach and 76% for intestinal type).[25,26] Patients in Raina et al: Gastrointestinal non Hodgkin''s lymphoma chemotherapy Raina et al: Gastrointestinal non Hodgkin''s lymphoma chemotherapy Raina et al: Gastrointestinal non Hodgkin''s lymphoma chemotherapy Raina et al: Gastrointestinal non Hodgkin''s lymphoma chemotherapy Raina et al: Gastrointestinal non Hodgkin''s lymphoma chemotherapy work_5jp3xanmr5g53aq22ocnqks5o4 [PDF] Evidence HDAC9 Genetic Variant Associated With Ischemic Stroke Increases Risk via Promoting Carotid Atherosclerosis | Semantic Scholar Corpus ID: 5761459Evidence HDAC9 Genetic Variant Associated With Ischemic Stroke Increases Risk via Promoting Carotid Atherosclerosis title={Evidence HDAC9 Genetic Variant Associated With Ischemic Stroke Increases Risk via Promoting Carotid Atherosclerosis}, Background and Purpose— A novel association between a single nucleotide polymorphism on chromosome 7p21.1 and large-vessel ischemic stroke was recently identified. Polymorphism of HDAC9 Gene Is Associated with Increased Risk of Acute Coronary Syndrome in Chinese Han Population Association Between the Gene Polymorphisms of HDAC9 and the Risk of Atherosclerosis and Ischemic Stroke HDAC9 Polymorphisms Predict Susceptibility, Severity, and Short-Term Outcome of Large Artery Atherosclerotic Stroke in Chinese Population The association between HDAC9 gene polymorphisms and stroke risk in the Chinese population: A meta-analysis View 6 excerpts, references background and methods View 3 excerpts, references background View 3 excerpts, references background work_5m7y6bxw3fdz7ekk4or6svi5nm a decreased rate of chondrogenesis, decreased bone formation, reduced callus vascularization, delayed remodeling, and altered expression of genes involved in repair and remodeling. and bone formation to levels observed in young mice, suggesting that the expression of COX-2 during the mechanisms involved.(1–3) The rate of bone repair is progressively reduced with aging from the pediatric population to the elderly.(4,5) Delayed healing results in an increased duration of immobilization, increases the risk of of fracture healing and the pattern of gene expression between young and aged animals. Our findings established reduced COX-2 expression in fractures in aged mice. harvested from young mice BMP-2, expression was elevated early during the endochondral phase of fracture repair, with peak expressions present between 5 and 10 days, 3. Fracture in aged mice have altered patterns of gene expression during the chondrogenesis, bone formation, and remodeling Peak expression of col2a1, COX-2, RANKL, and OPG occur in fractures in young mice work_5myelospcbhitkhgrswkakjfue Background: Nitrate is a widespread contaminant of drinking water supplies, especially in agricultural areas. Methods: We assessed the relation of estimated nitrate levels in well water supplies with thyroid health in a estimate concentrations at study participants'' residences using a standard linear mixed effects model that included Results: In women, high nitrate exposure was significantly associated with subclinical hypothyroidism (OR = 1.60; studies that incorporate individual measures of both dietary and drinking water nitrate intake. Keywords: Nitrate, Thyroid Conditions, TSH, Old Order Amish, Water pollution, Drinking water The aim of this study is to assess whether nitrate concentrations in well water are associated with levels of USGS to conduct a cross-sectional analysis of the association between nitrate exposure and thyroid health. Figure 1 Location of participant residences and wells with nitrate measures in study area. We used generalized linear regression to assess the association between estimated nitrate levels in well water work_5oj3wdjaf5huzczpz3nleymux4 for cell-based high-throughput screening (HTS) in preclinical drug discovery. cell culture platforms that provide different MEFs that elicit similar Formation of in vivo-like bile canaliculi structures by HepG2 hepatocytes that is only observed in 3D but not 2D culture formats. micrograph of HepG2 cells cultured on 3D porous polystyrene scaffolds (sc) for 21 days [61], exhibiting tight junction (tj) complexes between adjacent cell; The growing in a 3D format are not just ''different,'' but are physiologically more relevant, when compared to cells cultured on traditional 2D surfaces. CPR of 3D liver cell cultures. Liver cell studies with different platforms, but similar CPR outcome studies where liver cells were grown in type I, II and III scaffolds (1990) Long-term culture of rat liver cell spheroids in hormonally (1985) Spheroidal aggregate culture of rat liver cells: histotypic (2007) Culture of HepG2 liver cells on three dimensional CPR in liver tissue-derived cells work_5oqzdavjlndxtcwtbftv3ozwgq sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_5pcotsm3tferpocdisjwqoesk4 sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219633264 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:16 If you need further help, please send an email to PMC. Include the information from the box above in your message. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_5qc343ij3fgy7mt6gkyxrpqwxu This report represents a compilation of the mutations and variants identified so far in from of the U.S. Amish community, from Réunion Island, and Basque country were distinguished from, respectively, families in the remaining United States, Metropolitan French (i.e., continental France), and Spanish Conservation of Amino Acids at Locations of Missense Mutations and Nonclassified Variants of the CAPN3 Protein Also detected were five changes that could not be classified as either a polymorphism or a deleterious mutation, even though they were observed only in patients identified in the calpain 3 gene: 97 mutations, 12 polymorphisms, and 5 variants that could not be classified Richard et al.: Calpain 3 Mutations and Polymorphisms 1539 Richard et al.: Calpain 3 Mutations and Polymorphisms 1539 Richard et al.: Calpain 3 Mutations and Polymorphisms 1539 Richard et al.: Calpain 3 Mutations and Polymorphisms 1539 Richard et al.: Calpain 3 Mutations and Polymorphisms 1539 Richard et al.: Calpain 3 Mutations and Polymorphisms 1539 work_5qdl2p7kyzdtpg2ztsr3ai5gme Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments. Corpus ID: 5825026Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments. title={Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments.}, The term nemaline myopathy (NM) encompasses a heterogeneous group of disorders of primary skeletal muscle weakness characterized by the presence of nemaline rods in muscles of affected individuals. Figures, Tables, and Topics from this paper Sort by Most Influenced Papers Sort by Citation Count Heterogeneity of nemaline myopathy cases with skeletal muscle α‐actin gene mutations Clinical and pathological features of patients with nemaline myopathy. Nemaline Myopathy Caused by Mutations in the Muscle α-Skeletal-Actin Gene Nemaline myopathy: comparative muscle histochemistry in the severe neonatal, moderate congenital, and adult-onset forms. Intranuclear rods in severe congenital nemaline myopathy Congenital nemaline myopathy. Semantic Scholar is a free, AI-powered research tool for scientific literature, based at the Allen Institute for AI. work_5qjmgtplsfgdlgfs6d53glkdw4 Low segregation ratios in autosomal recessive account of a reduced segregation ratio in cartilage-hair hypoplasia (CHH) in Finland'' and of often been found in genetic studies of supposedly recessive diseases, such as those on chronic spinal muscular atrophy,3 osteogenesis unexpectedly low proportions of affected sibs may have many causes which can be considered under the headings of parental behaviour, observer error, and biological factors. Secondly, parents may not report earlier affected sibs, perhaps because of fear of stigmatisation, or families with an affected child contained an Most interesting of all are the possible biological explanations for a low segregation ratio in a the low proportion of affected sibs. recessive gene could obviously result in a distorted segregation ratio. parents who have had an affected child with low segregation ratio is that the disease is not The explanation of the low segregation ratio in Low segregation ratios in autosomal recessive disorders work_5qn6enezy5clfdbbr3wbyfgpc4 Polymorphic DNA markers and mental disease1 Polymorphic DNA markers and mental disease1 However, recent work on both Alzheimer''s disease and affective disorder has DNA markers spanning the long arm of chromosome 21 to study the inheritance of the disease in that the disease might be linked to two markers on the short arm of chromosome 11, the insulin gene heterogeneity comes from recent studies showing linkage of bipolar illness to various X chromosome In affective disorder, genetic heterogeneity alone will limit the usefulness of chromosome 11 diagnosis of affective disorder that apply to Alzheimer''s disease. linkage between X-chromosome markers and bipolar affective Medical Journal 293, 249-251. Editorial: Polymorphic DNA markers in mental disease 533 Editorial: Polymorphic DNA markers in mental disease 533 Editorial: Polymorphic DNA markers in mental disease 533 Editorial: Polymorphic DNA markers in mental disease 533 affective disorders linked to DNA markers on chromosome 11. genetic defect causing familial Alzheimer''s disease maps on work_5r2sxjez6ra7bcdhbvuqc4pwfi [PDF] A multi-institutional study of brainstem gliomas in children with neurofibromatosis type 1 | Semantic Scholar Corpus ID: 4919430A multi-institutional study of brainstem gliomas in children with neurofibromatosis type 1 title={A multi-institutional study of brainstem gliomas in children with neurofibromatosis type 1}, Objective: To define the clinical and radiologic features of brainstem gliomas (BSGs) in children with neurofibromatosis type 1 (NF1). Age at diagnosis, tumor location and appearance, clinical symptoms, treatment, and presence of a concurrent optic pathway glioma were assessed. Figures, Tables, and Topics from this paper Nonoptic pathway tumors in children with neurofibromatosis type 1 Pediatric malignancies in neurofibromatosis type 1: A population‐based cohort study Brain tumors in neurofibromatosis type 1 Optic pathway gliomas in neurofibromatosis type 1: The effect of presenting symptoms on outcome BRAINSTEM LESIONS IN NEUROFIBROMATOSIS TYPE 1 Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study. Optic gliomas in children with neurofibromatosis type 1 work_5rbnj6bfcjdgvh63hbe3rasgdu OBJECTIVE—We sought to identify type 2 diabetes susceptibility genes through a genome-wide association scan (GWAS) in trait in nondiabetic individuals; 80 SNPs were nominally associated with type 2 diabetes in one of the three independent 100K highly associated with type 2 diabetes in our Amish case-control dataset based highly type 2 diabetes–associated SNPs for association with diabetes-related 1. Schematic diagram of analysis and SNP prioritization approach for a 100K type 2 diabetes GWAS in the Amish. Fifty SNPs most highly associated with type 2 diabetes from Amish GWAS SNPs associated with type 2 diabetes (P � 0.01) and at least one OGTT-derived trait (P � 0.01) in nondiabetic Amish subjects traits in nondiabetic Amish individuals, 2) external replication of type 2 diabetes associations in three independent SNPs with P � 0.01 for type 2 diabetes associations were tested for consistency in a sample of nondiabetic individuals (295 of whom work_5rym66pwszao7j4ajnymsm52cq B McKibben, Henry Holt Company, New York, cloning, genetic enhancement, and nanotechnology. gut, anxiety about the genetically engineered dangers of new technology. the potential harms of cloning and genetic against human genetic engineering is that it So, he argues, engineered people will not know whether to take Likewise, engineered people will tend to feel genetically engineered daughter: ''''And what But, if knowledge about genetic determinism knowledge that we are genetically determined suggests that ''''engineered'''' people But perhaps genetic engineering also has implications for the moral psychology of the engineered offspring. Perhaps engineered children will not feel from worries about genetic determinism sure that reflection on genetic engineering Mckibben provides a falling prey to a brave new world of genetic A less familiar theme in McKibben''s work newer technology was successfully resisted one wonders how long new technologies can implement new technologies even when they McKibben''s book does not break new work_5ryulh2dabcyxcfivowbc2mkri Larger CAG/CTG trinucleotide-repeat tracts in individuals affected with schizophrenia (SCZ) and bipolar affective disorder (BPAD) in comparison with control individuals have previously been reported, implying a possible etiological role for trinucleotide repeats in these diseases. have recently been cloned, and studies indicate that the majority of individuals with large repeats as detected by Figure 1 Southern blot of EcoRI-digested genomic DNA hybridized with a large (1.5–3-Kb), nonspecific CAG/CTG repeat probe. Figure 2 RED on primary lgt10 clones (a–j) picked from genomic library (screened with CAG/CTG probe) generated from individual A7 (RED from genomic DNA: lane number). Southern hybridization, followed by stringent washing, of EcoRI-digested genomic DNA with a large, nonspecific CAG/CTG repeat probe (1.5–3 Kb) revealed a lgt10/genomic library, which was then screened for repeat containing clones by use of the large CAG/CTG Parikh SV, Vincent JB, Kennedy JL (1999) Clinical characteristics of bipolar disorder subjects with large CAG/CTG repeat DNA. work_5urjgwxiabgn7c4pc2wibp6neu Osteomas are slow growing, innocuous, benign osteogenic tumours composed of compact and/or cancellous bone. We report a case of a solitary periosteal osteoma arising Osteomas are benign osteogenic tumors that are seen in the facial bones, but uncommonly in In the facial bones, both central and peripheral osteomas have been described. We report on a solitary peripheral osteoma located unusually in the sigmoid notch of the left mandible causing facial asymmetry. Mandible; mandibular notch; osteoma; sigmoid notch; tumor Figure 2: Three-dimensional computed tomography face showing a radioopaque well defined swelling 3.0 cm × 2.5 cm × 2.0 cm at left mandible notch Table 1: Comparison between the reported cases of the osteoma of the sigmoid notch Our case 52 Female Left Lateral 3.0×2.5×2.0 Swelling Excision (intraoral) osteoma of the mandibular notch: A case report with computed Peripheral osteoma of the mandibular notch: Report of a case. osteoma at sigmoid notch of the mandible. work_5v62w35q2nehzcmmo3mn5aofay Characterization of Regional Poison Center Utilization Through Geospatial Mapping Introduction: Penetrance is the annual rate of human exposure calls per 1000 persons, a measure Penetrance ranged from 0.081 38.47 calls/1000 population/year American Indian (β = 3.10, p = 0.000) populations, suggesting that regions with higher proportions correlates, geospatial mapping may reveal disparities in PC access, identifying communities at A) 2012 distribution of poison center penetrance (calls per 1000 population) prior to geospatial mapping of all calls. Legend reports penetrance as calls per 1000 residents per year over the study period. Poison Center Utilization Through Geospatial Mapping Poison Center Utilization Through Geospatial Mapping Poison Center Utilization Through Geospatial Mapping Poison Center Utilization Through Geospatial Mapping Olives et al. Poison Center Utilization Through Geospatial Mapping Olives et al. Poison Center Utilization Through Geospatial Mapping Olives et al. Poison Center Utilization Through Geospatial Mapping Olives et al. work_5vplajq3ofem3bwzrx5eej5aea sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219633417 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:16 If you need further help, please send an email to PMC. Include the information from the box above in your message. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_5wajvbu6brdaxjiyonvr2gf33u Genetic Mapping and Exome Sequencing Identify polymorphism (SNP) microarrays to genetically map recessive disorders to large autozygous haplotype blocks Using between 1 and 5 patient samples per disorder, we identified sequence variants in the known disease-causing genes SLC6A3 and FLVCR1, and present evidence to strongly support the pathogenicity of variants (2012) Genetic Mapping and Exome Sequencing Identify Variants Associated with overexpression of N-terminal FLAG-tagged human BRAT1 (D) and hBRAT1 c.638_639insA (E) in mouse IMCD3 cells. lysates from human ARPE-19 cells transiently transfected with wt hBRAT1 displaying FLAG-hBRAT1 fusion protein at ,90 kDa or with hBRAT1 single affected patient identified 15 sequence variants within the 5 affected individuals identified 9 homozygous sequence variants Mutant N-terminal FLAG-Cradd (p.Gly128Arg) localizes to the cytoplasm and nucleus in a manner that is indistinguishable from the wild-type wild-type human BRAT1 for FLAG-fusion proteins overexpressed Whole exome sequencing and homozygosity mapping identify mutation in the work_5xdfolbjl5cubcpe4ukhbpkdue [PDF] Impact of prevailing thiamin levels on thiamin pyrophosphate uptake in pancreatic acinar cells: do the shuttle! Corpus ID: 37328499Impact of prevailing thiamin levels on thiamin pyrophosphate uptake in pancreatic acinar cells: do the shuttle! title={Impact of prevailing thiamin levels on thiamin pyrophosphate uptake in pancreatic acinar cells: do the shuttle!}, thiamin is a water-soluble B1 vitamin that regulates critical cellular processes, such as oxidative energy metabolism, adenosine triphosphate (ATP) production, and mitochondrial function; thus, it is referred to as the energy vitamin ([3][1], [5][2]). Sort by Most Influenced Papers Adaptive regulation of pancreatic acinar mitochondrial thiamin pyrophosphate uptake process: possible involvement of epigenetic mechanism(s). Adaptive regulation of pancreatic acinar mitochondrial thiamin pyrophosphate uptake process: possible involvement of epigenetic mechanism(s). By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_5xv7zc2t4bgzravrxsywe4ebae Extracellular Vesicles, Apoptotic Bodies and Mitochondria: Stem Cell Purpose of Review In the current work, we will present the characterization of the main different stem cell-derived vesicular bioproducts with potential application in organ regeneration. Recent Findings The therapeutic effects of stem cell therapy in organ repair, specifically those utilizing mesenchymal stromal Summary Exploitation of isolated extracellular vesicles, mitochondria and apoptotic bodies in preclinical models of organ Finally, stem cell therapy involves the transfer of mitochondria, the organelles responsible for cellular energy production, MSC-derived EVs were proven to modulate the immune system and stimulate regeneration in a multitude of preclinical models, including graft-versus-host-disease, lung, liver, kidney and cardiovascular injury [45]. are a significant number of studies describing the proregenerative effects of stem cell-EVs for organ regeneration, Extracellular Vesicles, Apoptotic Bodies and Mitochondria: Stem Cell Bioproducts for Organ Regeneration Extracellular Vesicles, Apoptotic Bodies and Mitochondria: Stem Cell Bioproducts for Organ Regeneration work_5yjmdrl7pjga3dd2ejbqij5dmm Association of the Vitamin D Metabolism Gene CYP24A1 With Coronary Artery Calcification tested their association with CAC quantity, as measured by electron beam computed tomography. studies were carried out in a discovery sample comprising 697 Amish subjects, and SNPs nominally associated with Metaanalysis for the association of this SNP with CAC quantity across all 3 studies yielded Conclusion—A common SNP in the CYP24A1 gene was associated with CAC quantity in 3 independent populations. Key Words: calcification � coronary artery disease � epidemiology � gene mutations � vitamin D metabolism subjects, and SNPs nominally associated with CAC quantity of white European ancestry (the Genetic Epidemiology Network of Arteriopathy [GENOA] Study and the Penn Coronary Artery Calcification [PennCAC] sample). The SNPs that nominally associated with CAC score in the Amish values for association of these SNPs with CAC score. The Association Between CYP24A1 SNPs and CAC Score* in 3 Populations work_63dqlhzqsfa2xn2i5h73zq4ahq sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219636759 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:20 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_644envuivbbijn3tchg7bdgitq sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219634683 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:17 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_64onr7zterf3xhev7y4hg2rqq4 Genome-wide association study (GWAS) has identified serine/threonine kinase 39 (STK39) as a candidate gene for hypertension. replication study provided supporting evidence that STK39 functional polymorphism rs35929607 was associated with hypertension. Recently, another study also showed rs6749447 within the STK39 was associated with blood pressure responses. gene for hypertension, and to examine the interaction of genetic factors and non-genetic risk factors in the Chinese population. Results indicated that none of these SNPs was associated with hypertension in the Chinese population. Taken together, the present study found no evidence that STK39 was associated with hypertension Instead, non-genetic risk factors such as BMI have an important role in Chinese hypertensive subjects, Keywords: genome-wide association study; serine/threonine kinase 39; polymorphism; interaction different SNPs and non-genetic risk factors for hypertension. Lack of association between STK39 and hypertension in the Chinese population Lack of association between STK39 and hypertension in the Chinese population work_64pwd5y735elhhhisarjusqrga Diabetes Study (AFDS) to test for association with type early-onset form of type 2 diabetes characterized by impaired glucose-induced insulin secretion due to pancreatic associated with type 2 diabetes (22); however, four SNPs AFDS, Amish Family Diabetes Study; HNF, hepatocyte nuclear factor; Table 1 summarizes the allele frequencies in individuals with type 2 diabetes, IGT, and NGT and SNPs reported to be associated with type 2 diabetes and in other SNPs observed to be associated with type 2 diabetes in Allele frequencies and results of association analysis in subjects with type 2 diabetes, IGT, and NGT for SNPs in the HNF4A region rs2425640, in the P2 and P1 promoters, respectively, that were associated with type 2 diabetes and glucose traits. regions of HNF4A are associated with type 2 diabetes and type 2 diabetes or related traits to this region of chromosome 20 in the Amish (24). gene for type 2 diabetes in this region, the P2 SNPs reside work_676tgeaotrhypele7e623yc5za Detection and Prevention of Wormhole Attack in Wireless Sensor Network using AOMDV Protocol Keywords: WSN; Wormhole attack; RTT; AOMDV; malicious node. Section IV deliberates our proposed work for detection and prevention of wormhole attack. S.Gupta et al [2] proposed a Wormhole Attack Detection Protocol using Hound packet called WHOP for detecting after route discovery process to detect wormhole attacks which counts hop difference between the neighbours of the wormhole nodes could be avoided if the path with longer delays would not be selected to transmit the data packet. Using AOMDV protocol in this paper a technique is proposed to detect and prevent the wormhole attack in the threshold Round Trip Time and hop count of that particular route is equal to two than wormhole link is detects first neighbour node as wormhole node and sends dummy RREQ packet through that route i and work_6a5anf3f6feqtajlr2irurjjqe ''Milk is Milk'': Organic Dairy Adoption Decisions and Bounded Rationality and Amish dairy farmers in Southwestern Wisconsin at a time when organic milk prices Keywords: organic; bounded rationality; decision making; dairy; managed grazing; Amish dairy farmers appear to be shaped in many cases by bounded rationality heuristics rather than informed We view bounded rationality to be an especially appropriate framework for organic dairy adoption framework for studying the organic adoption decisions of dairy farmers, and relates it initially to the 2. Bounded Rationality in Organic Dairy Adoption Decisions Lunneryd''s work focuses particularly on information use in organic dairy adoption and his discussion which bounded rationality behaviors and social networks shape organic adoption decisions. Organic farmer narratives illustrate bounded rationality issues associated with adoption decisions on role in helping many dairy farmers in our interviews consider organic agriculture. rationality issues farmers expressed in their response to the organic dairy adoption question. work_6afkph5cxbfqxiivuw5h553lga sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219642482 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:27 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_6craq6v3kfam7bh4dea6qjgkvi Twenty CND patients, ages 0.8–21 years, were managed total light dose (irradiance × treated surface area × time)5 light meters on a regular basis more effectively controlled home phototherapy units, patients were not hospitalized for any intensification of phototherapy per se, but for intravenous albumin therapy, more careful clinical and biochemical monitoring, and the treatment of complicating factors b In our CND patients the molar ratio of bilirubin A variety of drugs, preservatives, and endogenous anions interact with albumin to either reduce the number of highaffinity binding sites (L1) or increase the dissociation rate of the patients to undergo a liver transplant had total bilirubin phototherapy, and all of their patients developed brain injury rate of the bilirubin-albumin complex relative to the time it in vitro studies are not a perfect predictor of drug-albumin-bilirubin in living patients. on bilirubin-albumin binding. on bilirubin-albumin binding. on bilirubin-albumin binding. on bilirubin-albumin binding. work_6dh4b7u2yzehxnzoucl4stacny JM, Katz VL, Lapinsky SE, Einav S, Warnes CA, Page RL, Griffin RE, Jain A, Dainty KN, Arafeh J, Windrim R, Koren G, Callaway CW; on behalf of support (ACLS) in pregnancy, neonatal considerations, emergency medical service (EMS) care, cause of maternal arrest Cardiac arrest in pregnancy in-hospital basic life support (BLS) algorithm: simultaneous C-A-B-U (chest compressions/currentairway-breathing-uterine displacement). for management of cardiac arrest in pregnancy note the importance of early bag-mask ventilation with 100% oxygen.29 Airway 1. Rapid notification should be provided to the maternal cardiac arrest response team29,63–65 (Class I; Level age.25 Two cases of maternal cardiac arrest in early pregnancy of 13 to 15 weeks were reported in which the mother is the proximate cause of maternal cardiac arrest, resuscitation including PMCD can be performed at a trauma center should be reviewed by the maternal cardiac arrest committee for the hospital (Class I; Level of Evidence C). work_6e5xjyxuozbznhzyjhkxqwm3qa hydrophobicity of curved graphene sheets, self-assembled monolayers (SAMs) with chemical patterns, and mutants of the protein hydrophobin-II. Our results highlight the power of water density fluctuations-based measures to characterize the hydrophobicity of nanoscale surfaces and caution against the use of additive To study context-dependent hydrophobicity we use molecular dynamics (MD) simulations coupled with enhanced sampling methods (24, 25) to systematically displace water molecules can characterize protein hydrophobicity and reveal its dependence on curvature and chemical patterns at the nanoscale. also show that hydrophobic patches with variations in chemical pattern and topography, whether on self-assembled monolayers (SAMs) or on the surface of a protein, hydrophobin-II, (B) Compressibility of water in the first hydration shell normalized by its value near a flat graphene sheet, χ/χgraphene , as a function of the surface curvature, Sarupria S, Garde S (2009) Quantifying water density fluctuations and compressibility of hydration shells of hydrophobic solutes and proteins. work_6ealluy44vgd5ip4awfdnatxau [PDF] Vaccine-preventable diseases, immunizations, and the Epidemic Intelligence Service. Corpus ID: 13694906Vaccine-preventable diseases, immunizations, and the Epidemic Intelligence Service. title={Vaccine-preventable diseases, immunizations, and the Epidemic Intelligence Service.}, Both in the United States and abroad, current and former Epidemic Intelligence Service officers have played a critical role in describing the epidemiology of vaccine-preventable diseases, contributing to development of immunization policies, participating in the implementation of immunization programs, and establishing… Expand A Decade of the National Health Mission : Full Immunization Coverage and Vaccine Preventable Diseases in India Editorial: epidemic-assistance investigations by the centers for disease control and prevention: the first 60 years. Epidemic Assistance by the Centers for Disease Control and Prevention: Role of the Epidemic Intelligence Service, 1946–2005 Historical comparisons of morbidity and mortality for vaccine-preventable diseases in the United States. Semantic Scholar is a free, AI-powered research tool for scientific literature, based at the Allen Institute for AI. work_6eqqzqldu5bpnhgllncqdhlxqa sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219636949 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:20 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_6exfhky7knafjm6gu7bgh3t7cm Acute Esophageal Necrosis in an Alcoholic after Successful Resuscitation from Cardiac Arrest We present a patient who presented to the ICU after successful resuscitation from cardiac arrest who was subsequently by blackness, erythema, friability, granularity, inflammation, and decreased vascular pattern in the middle third of the esophagus pathophysiology in this patient is hypothesized that she had cardiac arrest secondary to acute upper GI hemorrhage. low-flow state (cardiac arrest) in addition to being in the setting of severe alcohol abuse led to esophageal necrosis. Acute esophageal necrosis (AEN) is a rare syndrome characterized by diffuse circumferential black appearance of AEN also known as black esophagus is a rare syndrome with Our patient''s presentation of AEN was unique in two esophagus," The American Journal of Gastroenterology, vol. E. Gurvits, "Black esophagus: acute esophageal necrosis Robilotti, "Acute esophageal necrosis: a rare syndrome," Journal work_6fmxppcvcrd2xlbjmj2hlbluna muscle biopsy performed at 15 months revealed a clear disproportion in fibre size, with type I fibres consistently smaller than deletion of exons 8–9 of the TNNT1 gene (figure 2). Analysis of the skeletal muscle transcripts of TNNT1 showed addition, the study of TNNT1 transcripts from muscle biopsy Figure 2 Homozygous deletion of exons 8–9 of the TNNT1 gene. homozygous deletion of exons 8 and 9 of the TNNT1 gene. Glu112 in exon 9 of the TNNT1 gene, associated in the other *6 cases genotyped out of 71 patients with the Amish nemaline myopathy clinical phenotype. mutations of slow skeletal muscle troponin T found in NonAmish TNNT1 nemaline Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy work_6glrf3b7lrff7agwwyytjdodha P/4 Import and assembly of mitochondrial proteins University of Freiburg, Germany E-mail: nikolaus.pfanner@biochemie.uni-freiburg.de precursors are imported via the translocase of the outer mitochondrial membrane (TOM complex) and are subsequently sorted into the four mitochondrial subcompartments, outer membrane, intermembrane space, inner membrane and matrix. presequence translocase of the inner membrane (TIM23 complex). (ii) Hydrophobic inner membrane proteins complex (small Tim proteins) and inserted into the inner membrane (iv) Betabarrel proteins are transported from the TOM complex to the These mitochondrial disorders were the first to be investigated after the small mtDNA had defects of mitochondrial carriers, a family of nuclear-coded proteins Mutations of mitochondrial carrier genes involved in mitochondrial functions other than oxidative phosphorylation are Defects of mitochondrial carriers that supply mitochondria with the substrates of oxidative phosphorylation, inorganic phosphate and ADP, are responsible for diseases characterised by P/6 The water oxidizing enzyme E-mail: alfred.rutherford@cea.fr efficient catalyst for oxidizing water. mitochondrial complex I mailto:nikolaus.pfanner@biochemie.uni-freiburg.de mailto:alfred.rutherford@cea.fr work_6i5qreftfvcdvcezhkbsi2udne WHAMM function involved binding to the phospholipid PI(3)P and promoting actin nucleation at nascent autophagosomes. dehydrogenase; GFP, green fluorescent protein; GMS, Galloway-Mowat syndrome; GST, glutathione S-transferase; HA, hemagglutinin; HRP, horseradish peroxidase; IL-1β, interleukin-1β; LAP, localization and affinity purification; LCL, lymphoblastoid cell line; MBP, maltose-binding protein; PBS, phosphate-buffered To examine WHAMM protein expression, we generated lymphoblastoid cell lines (LCLs) from control Amish individuals, WHAMM mutation in Amish GMS patient cells and to uncover the FIGURE 1: Cells from Amish GMS patients encode truncated WHAMM variants. the rate of actin assembly (Figure 3B), confirming that, in the abFIGURE 2: Truncated WHAMM proteins exhibit altered properties in cells. GMS patient contained some LC3-positive autophagosomal structures under both types of autophagy-inducing conditions, cells FIGURE 3: Amish GMS WHAMM truncations do not promote actin nucleation but can associate Given the autophagy-related defects in cells of Amish GMS patients, we next examined whether WHAMM and/or WDR73 might work_6idnvcomdvc6df3xv7vlawjwh4 While screening Old Order Amish children for glutaric aciduria type 1 (GA1) between 1989 and 1993, we found three healthy children who revealed that the three Amish individuals were homozygous for a nonsynonymous sequence variant (c.895C/T, Arg299Trp). In affected individuals, urine molar ratios of glutarate to its derivatives (3-hydroxyglutarate, Genome-wide autozygosity mapping using three distantly related Old Order Amish children with GA3 identified a homozygous 4.7 Mb region on chromosome 7p14 C7orf10 (OMIM 609187) as a candidate based on its putative CoA transferase function (NCBI Gene) and mitochondrial targeting sequence (MitoProt). molar ratios of glutarate to 3-hydroxyglutarate and glutarylcarnitine were markedly elevated in GA3 (Figure 3), suggesting that the loss of C7orf10 function interferes with the Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10 Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10 work_6luvvitjy5gylmrqm2esxq2jfe tions for screening the general population aged 45 years for diabetes every years to assess the diabetes screening practices in this population. Table 1—Characteristics of respondents aged 45 years reporting screening for diabetes in a p p roach for the diagnosis of asymptomatic diabetes in patients with cystic fib rosis are pre s e n t e d . diabetic CF patients with normal HbA1 c, obesity observed in type 2 diabetic patients the other hand, patients with type 2 diabetes had significantly lower insulin secretion (212 ± 85 pmol l 1 m i n 1, P = insulin sensitivity in diabetic subjects. and glucose effectiveness in type 2 diabetic and glucose effectiveness in type 2 diabetic both of which can be safely used by diabetic patients during exposure to moderately high altitudes. patients with type 2 diabetes who were c o n t rol in patients with type 2 diabetes. work_6mnmp6axxnbsdm4dr6jrlur4yi SNP rs10494366 explained 0.9% of QT interval variability, with an average genetic effect of 6.1 ms. study provides further evidence that NOS1AP variants influence QT interval and further validates the utility of genomewide association studies, a relatively new approach to gene to performing genetic association studies in the Amish. Genetic association studies in isolated populations are between NOS1AP and the QT interval to additional populations, and also strengthen the evidence for the potential utility of genome-wide association studies, a relatively new approach to gene discovery. In stage II of that study, which consisted of 300 individuals from each extreme of the QT interval disPost /Shen /Damcott /Arking /Kao /Sack / Two of the four NOS1AP SNPs were significantly associated with variation in adjusted QT interval, as shown Associations between NOS1AP SNPs and adjusted QT interval KORA S4 and F3 populations, and 39% in the Framingham Heart Study, in which association between NOS1AP work_6neqo3djufbjlbmznp3zf4cbcy 10 Best Dry Bags 2020 – Keep Your Items Safe from Getting Wet Read More » If you''re going to a trip in a snowy mountain, a place with lots of humidity, or anywhere with cloudy weather – then you''ll want the best waterproof jacket to … 10 Best Waterproof Jacket in 2020 – Stay Dry in Adverse Weather Read More » 10 Best Indoor Outdoor Thermometer 2020 – Top Pick''s And Review 10 Best Indoor Outdoor Thermometer 2020 – Top Pick''s And Review Read More » 10 Best Firewood Racks 2020 – Review & Buying Guide 10 Best Firewood Racks 2020 – Review & Buying Guide Read More » 10 Best Dry Bags 2020 – Keep Your Items Safe from Getting Wet 10 Best Dry Bags 2020 – Keep Your Items Safe from Getting Wet 10 Best Waterproof Jacket in 2020 – Stay Dry in Adverse Weather work_6o4v7sdqhvcfnaztbkf5fc5rli [PDF] Highly conductive poly(3,4-ethylenedioxypyrrole) and poly(3,4-ethylenedioxythiophene) enwrapped Sb2S3 nanorods for flexible supercapacitors. Corpus ID: 21360793Highly conductive poly(3,4-ethylenedioxypyrrole) and poly(3,4-ethylenedioxythiophene) enwrapped Sb2S3 nanorods for flexible supercapacitors. title={Highly conductive poly(3,4-ethylenedioxypyrrole) and poly(3,4-ethylenedioxythiophene) enwrapped Sb2S3 nanorods for flexible supercapacitors.}, Composites of poly(3,4-ethylenedioxypyrrole) or PEDOP and poly(3,4-ethylenedioxythiophene) or PEDOT enwrapped Sb2S3 nanorods have been synthesized for the first time for use as supercapacitor electrodes. Figures and Topics from this paper Sort by Most Influenced Papers Sort by Citation Count Flexible supercapacitors based on 3D conductive network electrodes of poly(3,4-ethylenedioxythiophene)/non-woven fabric composites Deepa, Amish G Joshi, S. Deepa, Amish G Joshi, S. Deepa, Amish G Joshi, S. Synthesis and characterization of RuO(2)/poly(3,4-ethylenedioxythiophene) composite nanotubes for supercapacitors. Ultrathin MnO2 Nanorods on Conducting Polymer Nanofibers as a New Class of Hierarchical Nanostructures for High-Performance Supercapacitors Semantic Scholar is a free, AI-powered research tool for scientific literature, based at the Allen Institute for AI. work_6ogsnhombzcmxfempixeqgteum sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_6pv7eqah3fgndfbfdjdi7vkqda sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219647028 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:32 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_6rimbcmpi5ghnppulg6neb3lmm sap collection methods, size of maple operation, and educational programming, we conducted a detailed survey of all known Ohio maple syrup producers (761 and producers with more than 250 taps were significantly more likely to participate in Ohio State University (OSU) Extension educational programming (P � These results suggest significant relationships among producer demographics and the characteristics of maple operations in Ohio, and future OSU (USDA-NASS 1992–2006) has included Ohio in its annual statistics reporting of maple syrup production in the United States. Specifically, we (1) examined producer age, sap collection method, cultural heritage, and participation in the Ohio Maple Days Conferences and how these characteristics were associated with operation size; (2) explored the implications these results might have on the maple industry in Ohio; and important factors influencing the maple syrup industry: (1) producer heritage (English, Amish); (2) sap collection methods (buckets, English producers were more likely to attend Ohio Maple Days than Amish (X (1,n�620) work_6sr3x3uoijhajalrpkljbor6tm OKT3Fcy+ low-affinity E+), and a significant decrease in thymic derived OKT3+ cytolytic T cell subpopulations in CHH individuals. cellular cytotoxic effector mechanism has been identified in CHH (i.e., NK activity). However, allogeneic culture induced specific and NK-like cytotoxicity were markedly diminished in CHH. In contrast, minimal MLR-induced specific cell mediated lympholysis could be generated in CHH individuals (4.6±2.1% at E/T 30:1), whereas PBMC from Thus, CHH individuals showed a markedly decreased specific CML, as well as NK-like cytotoxicity The generation of radioresistant NK-like and specific cytotoxicity was correlated with allogeneic MLR-induced proliferation in seven CHH and normal individuals (proliferation vs. Radiation Resistance of NK-like Activity in CHH and Normal Individuals Culture-induced specific and NK-like cytotoxicity mediated by OKT3+ T-cells is proliferation cytotoxicity is mediated by the OKT3+ T5/T8+ T lymphocyte subpopulation (12-14), whereas the phenotype of the cells mediating NK-like culture-induced Cytotoxicity by cultured human lymphocytes: Characteristics of effector cells and specificity work_6vy6x63w5rfmzmgs52kd6o466a Virilizing ovarian steroid cell tumor in a 40 year old South Indian Here we report a case of virilizing Leydig cell type, steroid cell tumor of the left ovary, in a 40 year old female who presented with clinical signs and symptoms of virilization: deepening of voice, hirsutism (Ferriman-Gallwey score 26), clitoromegaly, left sided steroid-cell ovarian tumor, Leydig cell type (stage T1N0M0), which proved to the etiology found to have a steroid-cell ovarian tumor, Leydig-cell ovary showing a well differentiated steroid cell tumor. On radiological imaging, appearances of virilizing tumors Virilizing steroid cell tumors of the ovary are usually one 2. Young RH, Scully RE: Steroid cell tumors of the ovary. Petroff N, Bur G: Virilizing ovarian tumor of cell type not Ng HT: Steroid cell tumors of the ovary: clinical, ultrasonic, Ng HT: Steroid cell tumors of the ovary: clinical, ultrasonic, work_6ydafrsucjaurjxtnzqydbxa2m care to the Amish population by recognizing important cultural values that have survived for more than three hundred Keywords: Amish culture; nurse practitioner; human caring; It is vital for health care professionals to respect these differences when dealing with Amish family practice office that served a large Amish population. The authors developed the article for a class assignment for a family nurse practitioner clinical course at Frances Payne Bolton School of Nursing at Case Western The Amish cultural belief in rural living and rigorous physical labor as a means to good health makes "natural" The Amish are not prohibited by church law from taking medication or seeking care Health care can be costly to the Amish population, because This article has discussed the Amish culture and its relationship to medical care. on the health care practices of the Amish. implications for nursing care of the Amish. work_72piqaytpndajizu76auka7peq Considerable advances have been made in our understanding of age-related macular degeneration (AMD) genetics over the There is furthermore growing interest in genetic testing for predicting an individual''s risk of AMD specific AMD-associated common genetic variants at common variants in complement-related genes with AMD, common AMD-associated genetic variants remains new rare genetic variants associated with AMD. which genetic variants associate specifically with progression of AMD may be useful. AMD-associated risk variants and VEGF-related gene A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Complement C3 variant and the risk of age-related macular Genetic profile for five common variants associated with age-related macular degeneration in densely affected Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Phenotypic characterization of complement factor H R1210C rare genetic variant in age-related macular Modelling the genetic risk in age-related macular degeneration. work_72qrcklu2fhb3ogdh5rmgcj4rq first major survey of North American Mennonite and Brethren in Christ church The five denominations studied in both surveys (Mennonite Church, General its focus is on John Smyth and his group''s relationship to the Dutch Mennonites. group and the Mennonites, including the relationship between church and state, Since the Mennonites like the Smyth group had a congregational form German Mennonite congregations favored an alliance with the Smyth group but the Similarly, Coggins speaks of tl2e Anabaptist and tlze Mennonite "view of the In an attempt to return to the early Anabaptist Mennonite faith and practice, Dyck in Europe during and immediately after the Second World War. As representatives of the Mennonite Central Committee, they devoted themselves to the task of "Theology of the Hermeneutical Community in Anabaptist-Mennonite Thought" The more modem non-Mennonite peace groups treated in Brock''s study are their pacifism than any other group, including the Mennonites. work_73yvynye55gvvnye67xj56fa3y sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219637291 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:20 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_764qwozy3rb2zbpfosnrj74jce Ellis-van Creveld syndrome is a rare form of reported with the syndrome include oral (absence of This report presents two cases of this rare dysplasia Ellis-van Creveld syndrome is a rare form of mesenchymal ectodermal dysplasia. characterized by disproportionate short stature, postaxial polydactyly, ectodermal dysplasia and congenital heart defect. This case report presents two cases with classical clinical findings along with some unusual features including rhizomelic limb shortening, global developmental delay and bilateral lens subluxation not reported previously. Both reported cases had rhizomelic and syndrome were present in both cases. There has been a reported case of Ellis mutations in two thirds of Ellis-van Creveld syndrome patients. Chondroectodermal dysplasia (Ellis-van Creveld syndrome): a in Ellis-van Creveld syndrome: report of five cases. Figure 1: Case 1 having disproportionate short Figure 3: Case 2 showing serrated alveolar ridge A rare variant of Ellis-van Creveld syndrome. Ellis-van Creveld syndrome: a case work_77jkcvvefzdf3mmytzfusomkpq sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219635140 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:18 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_77msucrgz5gu7cu4nr732duv5y Americans with type 2 diabetes and 280 random Mexican Americans from Starr County, Texas, using the Affymetrix GeneChip results from other type 2 diabetes genome-wide association evidence for replicated association with type 2 diabetes that for allelic associations to type 2 diabetes in the Mexican Americans with the type 2 diabetes association tests under an additive model in the Amish, the allele was associated with type 2 diabetes) in the DGI GWAS (Fig. 1). experiments having �90% call rates) and reduced nonrandom missing data by increasing the proportion of heterozygote genotype calls (online appendix Table 2), which SNPs most significantly associated with type 2 diabetes evident than searching for associations at previously identified and replicated type 2 diabetes genes. set but is not associated with type 2 diabetes in Mexican associated with type 2 diabetes in Mexican Americans, it polymorphisms (SNPs) previously associated with type 2 diabetes work_7b4n45g4uzdhzhnvbtahngngoe sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_7bkgyqidkbhqfnrlwheuy5q7yu sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219638746 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:22 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_7duup6swqveubbwkjbqwrrxbl4 sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_7e5blk7hbja3tftggirw6el4ka sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219636007 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:19 If you need further help, please send an email to PMC. Include the information from the box above in your message. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_7fepazhw4vdtzdz3us34g5r5fy hat the World''s religions teach, applied to vaccines and immune globulins The review identified more than 60 reports or evaluations of vaccine-preventable infectious-disease In multiple cases, ostensibly religious reasons to decline immunization actually reflected concerns about vaccine safety or personal beliefs among a social network of people organized around a faith community, ontagious diseases, though, vaccine and immune globulin deciions may affect more than an individual''s health. acceptability or unacceptability of vaccines and immune globulins based on religious beliefs, PubMed and Google databases were a tradition of declining immunization that dates back to concerns about adverse events after smallpox vaccination from multiple outbreaks of vaccine-preventable diseases among them Measles outbreaks in religious groups exempt from immunization laws. Some outbreaks of vaccine-preventable diseases in groups http://www.mothering.com/community/t/402196/what-religions-dont-vaccinate What the World''s religions teach, applied to vaccines and immune globulins What the World''s religions teach, applied to vaccines and immune globulins work_7irxg24xeja77jzuujte6iklna transfusão sanguínea por parte das Testemunhas de Jeová podem ser compreendidas sob uma sugere-se que a recusa das Testemunhas de Jeová pode ser compreendida como uma Jeová não reivindicam que o poder legislativo delibere acerca de sua recusa, tida por seus das Testemunhas de Jeová – não implica uma afronta ao princípio da laicidade, ainda que a por parte das Testemunhas de Jeová, devendo esta ser respeitada como escolha existencial que Cover mostra, por exemplo, de que forma comunidades religiosas como os amish e os para que o nomos Amish, por exemplo, pudesse prosperar dentro do território norteamericano, o seu texto fundamental não é a Constituição dos Estados Unidos, mas o Novo das comunidades religiosas descritas por Cover que, embora não considerem isso como algo suficiente, não Pensamos que não – e a solução passa, uma vez mais, por Robert Cover. uma argumentação que reconheça a narrativa religiosa das Testemunhas de Jeová como work_7joposkbszam3l2ffi3ufz666u Ollier and Kennedy Canine Genetics and Epidemiology 2014, 1:1 research communities within veterinary medicine, wildlife conservation, evolutionary biology and canine comparative health genetics. to announce the launch of Canine Genetics and Epidemiology, an open access journal published by BioMed Existing journals are often too general to assess canine genetic and epidemiology papers appropriately and may not have sufficient specialist referees Currently, it is rare to have rapid publication of canine genetics research. Epidemiological studies exploring canine disease risk are both canine genetic and epidemiology research reports in both canine genetic and epidemiological research in a single journal, we hope to bring research communities closer. Ollier and Kennedy Canine Genetics and Epidemiology 2014, 1:1 Page 2 of 2 used to describe animal based pathology which represents that seen in human diseases; many of these models genetics of canine diseases that also represent important journal for canine genetics and epidemiology. work_7mmfe6yhzfelrhg3wa6t4ur2ou TIMP3 SNPs were found significantly associated with high myopia by single-marker or haplotype individual DNA samples forming the original pools, and (3) replication of positive SNPs by an In DNA pooling-based initial study, 600 unrelated Southern Han Chinese subjects (Sample Set 1) Positive SNPs from the DNA poolingbased initial screen were confirmed by individual genotyping of the original Sample Set 1 and, if The positive findings (3 SNPs) in the DNA pooling-based initial study were confirmed by individual For Sample Set 2, two SNPs of the TIMP3 gene (rs135029 and rs137485) were genotyped by SNPs were then genotyped for individual samples forming the DNA pools (Sample Set 1) for associated with high myopia (Pasym=0.0178, omnibus test; Sample Set 1, Table 5). "putatively positive" SNPs were genotyped for individual samples forming the original DNA pools. Pooled DNA analysis of tag SNPs in the MMP2, TIMP2 and TIMP3 genes work_7n2voym2grhjpocfumswh5tooa 1-HLOD support interval of the linkage region on chromosome 18 is enriched in genes that participate in serine-type endopeptidase inhibitor activity and the positive regulation of epithelial to mesenchymal transition. To identify novel variants underlying the pathophysiology of AMD, we performed association and linkage analyses on Illumina HumanExome chip data for 175 related Table 1 AMD-associated variants identified with ROADTRIPS testing of Amish families AMD, age-related macular degeneration; ROADTRIPS, RObust Association-Detection Test for Related Individuals with Population Substructure; Chr., chromosome; LCN9, lipocalin 9; RTEL1, regulator of telomere elongation helicase 1; RTEL1-TNFRSF6B, RTEL1-TNFRSF6B linkage analysis on the markers on chromosome 1 with liability classes for carriers of two AMD risk variants in CFH Hoffman JD et al (2014) Rare complement factor H variant associated with age-related macular degeneration in the Amish. Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish work_7qw3jv4mcfbi7f4gdicne5ilum Bodies: Sex, Violence, Disease, and Death in Contemporary Legend (review) It shows how individual stories can be retold in differing versions with various understandings and interpretations, and it also explores humorous narratives. introduction to the Mennonite folk culture When we consider the 1960s, our attention cannot help but be drawn to urban and contemporary legends. delimitation, Bennett points out that legend is Bennett''s Bodies, therefore, is about folklore Internet, legends appear both homeless and universal, old and modern, urban and rural. jaded or jaundiced reductionist analysis that appears to debunk folklore, legend, or the gullibility of humanity? book confront the ideas that legends are false or to legend study used in the book involve sampling the cultural complex that involves the legend or including all related material associated specific example with local behavioral and cultural norms, or viewing legend as a sociopolitical tale-type numbers, register of motifs, index of work_7qxsnupuyzdhnex2x2llmw5tku The sarcoglycan complex is involved in the etiology of four autosomal recessive limb-girdle muscular dystrophies (LGMD2C–F). missense mutation (T151R) in the b-sarcoglycan gene on chromosome 4q12 has been shown to cause a mild form of LGMD2E in 11 analysis of all the components of the dystrophin-glycoprotein complex was performed for the first time on a biopsy from a patient extensive analysis of 36 kb of genomic sequences overlapping the b-sarcoglycan gene on chromosome 4q12. various predictive algorithms, we analyzed the entire genomic sequence and detected two putative exons that could be Exon-intron organization of the b-sarcoglycan gene corresponding to the cDNA b-Sarcoglycan gene mutations in the LGMD2E Amish The expression level of dystrophin, b-dystroglycan, and the laminin a2 chain in the Amish patient Patient screening for b-sarcoglycan gene mutations mutation in the sporadic case T044 was not determined despite the analysis of the whole coding sequence of the b-sarcoglycan gene. work_7w7yld542jcfvbw4wi3bay2kqu Association of Patent Ductus Arteriosus Ligation With Death or Neurodevelopmental Impairment Among Extremely Preterm Infants O ver the past decade, retrospective studies have asso-ciated patent ductus arteriosus (PDA) ligation with in-creased neonatal and neurodevelopmental morbidity, including chronic lung disease (CLD), retinopathy of of 754 preterm infants had a clinical and echocardiography diagnosis (≥1.5mm) of PDA, of whom 570 received medical treatment only and 184 were treated with surgical ligation. Outcomes of Patent Ductus Arteriosus Ligation in Extremely Preterm Infants Original Investigation Research Outcomes of Patent Ductus Arteriosus Ligation in Extremely Preterm Infants Original Investigation Research Outcomes of Patent Ductus Arteriosus Ligation in Extremely Preterm Infants Original Investigation Research Outcomes of Patent Ductus Arteriosus Ligation in Extremely Preterm Infants Original Investigation Research Outcomes of Patent Ductus Arteriosus Ligation in Extremely Preterm Infants Original Investigation Research Outcomes of Patent Ductus Arteriosus Ligation in Extremely Preterm Infants Original Investigation Research work_7xhwe67ipba2tgzwvqxyqizu44 • Die Amish Kinder dürfen nicht von der verpflichteten Erziehung nach dem The State''s claim that it is empowered, as parens patriae, to extend the benefit of secondary education to children regardless of the wishes of their parents cannot be sustained against a free • Autorität und Paternalismus der Eltern soll dem Prinzip unterworfen sein, dass eine Pluralität von Lebensaussichten den Kindern of the good life, and participation in meaningful democratic self-government." (Children, Paternalism, and Education: A Liberal • Arneson und Shapiro behaupten deutlich, dass ihre Positionen nicht eine solche ist, die gegen die Existenz der Amish Gemeinschaft ist. sich an den Rechten der Kinder auf eine adäquate Erziehung zu vergreifen, auf dass die Eltern die Amish Gemeinschaft aufbewahren • Arneson und Shapiro sind der Ansicht, dass das Recht, eine eigene individuelle Autonomie zu entwickeln, die richtige Antwort auf children into the community." (Richard Arneson and Ian Shapiro, "Democratic Autonomy and Religious Freedom: A Critique of work_7xll24wgxrhupaupbbckjjwxri sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219650785 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:37 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_7xwporzchfgyxe7ufkbpxiexvu Manic depression (bipolar affective disorder) is one of the unipolar major depression by the occurrence of manic Egeland et all have shown linkage between the manic depressive phenotype in one North American pedigree and markers and the manic depressive phenotype, assuming depression and the chromosome 11 markers H-ras 1 and manic depression in this family are at other, as yet manic depressive gene loci in this and other pedigrees. tDepression and Manic Depression Research Unit, FIGURE Pedigree of family showing age, H-ras 1 alleles TABLE Lod scores calculated between the two marker loci, H-ras I and INS, and the manic depression phenotype, for disorders linked to DNA markers on chromosome 11. genetic evidence for heterogeneity in manic depression. Two separate primary amniotic fluid cell cultures at Noted were the following craniofacial anomalies: high and narrow forehead, long philtrum, The deletion was found in 24% (6/25) of cultured cells work_7yqhfu7ac5ayjadats3jx2kr64 Three intronic SNPs in ADIPOR1 were significantly associated with type 2 diabetes (P � 0.014 – evidence for association between variation in the adiponectin receptors and type 2 diabetes. intronic SNPs, rs2275737 and rs1342387, differed significantly between subjects with type 2 diabetes and those that the intronic SNPs mark a type 2 diabetes susceptibility allele or haplotype. type 2 diabetes/IGT-associated SNPs. These results should Although these type 2 diabetes/IGT-associated SNPs do adiponectin receptors to search for polymorphisms associated with type 2 diabetes in the Old Order Amish. 2. ADIPOR2 haplotype frequencies and association analysis in cases with type 2 diabetes/IGT Allele frequencies and results of association analysis in type 2 diabetes and IGT cases and NGT control subjects for SNPs in ADIPOR2 Allele frequencies and results of association analysis in type 2 diabetes and IGT cases and NGT control subjects for SNPs in ADIPOR2 work_a2dgjqnql5bmfcf5qz7ry5j6uu Methods: Children aged 8-13 yr living a traditional lifestyle (Old Order Amish [OOA], n = 68; Old Order Mennonite [OOM], n = 120) were compared with children living a contemporary lifestyle (rural Saskatchewan [RSK], n = 132; urban Saskatchewan [USK], n = 93). Results: On weekdays, there were group differences in moderate physical activity between all lifestyle groups (OOA > OOM > USK > RSK). On the weekend, the group differences in moderate physical activity persisted between, but not within, lifestyle groups (OOA = OOM > USK = RSK). Sport, Exercise and Health Sciences Medicine and Science in Sports and Exercise, 42(2), pp.296-303. Medicine and Science in Sports and Exercise, 42(2), pp.296-303. This is a non-final version of an article published in final form in Medicine and Science in Sports and Exercise, 42(2), pp.296-303 at: http://dx.doi.org/10.1249/MSS.0b013e3181b3afd2 work_a4dbwdnlkzf2bfbnu65of6hdei heart also cause coronary sinus congestion, which reduces coronary blood flow and can provoke RV ischemia.35,36 High right-sided filling pressure with systemic ARDS indicates acute respiratory distress syndrome; ARVC, arrhythmogenic right ventricular cardiomyopathy; LH, leftsided heart disease; LVAD, left ventricular assist device; PAH, pulmonary arterial hypertension; PE, pulmonary embolism; Comparison of left and right ventricular end-systolic pressure-volume relations in congestive heart failure. Pulmonary hypertension in heart failure: epidemiology, right ventricular function, and survival. Abnormal right ventricular-pulmonary artery coupling with exercise in heart failure with preserved ejection Incidence and clinical significance of late right heart failure during continuous-flow left ventricular assist device support. right ventricular failure: the unique hearts of patients with Eisenmenger right ventricular volumes and function in patients with pulmonary hypertension compared with conventional two-dimensional echocardiography. ventricular systolic dysfunction in patients with heart failure. Effects of carvedilol on right ventricular function in chronic heart failure. work_a4fufuwvkjfkbf2nfqvm7nnttu We carried out a genome-wide association study of serum aspartate aminotransferase (AST) activity in 866 Amish participants of the Heredity and Phenotype Intervention Heart Study and identified significant association of AST activity with a cluster of single serum AST levels by carrying out a genome-wide association study We carried out a GWAS of serum AST activity levels in 866 Amish carriers had serum AST activity levels that were approximately onehalf that of normal homozygotes, suggesting that the deletion resulted Serum AST activity levels are determined by both genetic and Figure 1 Genome-wide association analysis plot for serum AST levels in 866 Old Order Amish subjects. AST and ALT measurements were based on 10 GOT1 deletion carriers from HAPI Heart study. A mutation in GOT1 determines serum AST levels Genome-wide association study identifies genetic variants in GOT1 determining serum aspartate aminotransferase levels Genome-wide association study identifies genetic variants in GOT1 determining serum aspartate aminotransferase levels work_a4stsfli5vcmvodhkxd2praj3i Back to the family: a renewed approach to rare variant studies approach to rare variant studies the family: a renewed approach to rare variant studies." Genome http://osc.hul.harvard.edu/dash/open-access-feedback?handle=&title=Back%20to%20the%20family:%20a%20renewed%20approach%20to%20rare%20variant%20studies&community=1/4454685&collection=1/4454686&owningCollection1/4454686&harvardAuthors=d3c6b38c33222a0d0510539b21cde61a&department http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA head to toe'' and ''Cancer genetics I: rare variants''. Th e main challenge when studying rare variants is that Family studies: a shortcut to analyze rare variants approaches to rare variant interpretation. Back to the family: a renewed approach to rare approach in a session centered on family studies as a In addition to the renewed interest in family studies, USA) described a study of complex traits in the Amish genetic bottleneck, rare variants that segregate in the uncover a rare pathogenic variant in a study of depression isolated populations for complex trait studies at this rare variant, the substantial IBD in the samples promotes tages of family and isolated population study designs, we to rare variant studies. work_a4wldggrnncd3hwe3c3yn24rti sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_a57g34winbfsjh3ls6vsvj6wmu Amselem, a Supreme Court of Canada decision restricting judicial—and presumably also governmental—inquiries into the sincerity of religious beliefs.9 Alberta thus concluded that an amendment terminating exemptions Justice Iacobucci thus affirmed that subsection 2(a) protects sincere individual beliefs or practices even if a religious leader denies their significance.18 a discrete community with a long established and easily verified sincere religious objection to being photographed) but will not exempt false claims of religious belief[?] (Hutterian Brethren, FOI, supra note 26 at para 19). requested that the Court distinguish Amselem in order to permit the province to "require objective verification of a shared religious belief as a condition to qualify for a religious exemption": Hutterian Brethren of Wilson Colony, 2009 SCC 37 (Oral argument, also submitted in oral argument that the Court should distinguish Amselem as requiring "objective verification of a shared religious belief": Hutterian Brethren, OAI, supra work_a7lljqyuqzcfbhkpcqkb2c5vri In a mouse line with the entire cardiac TnI gene deleted, a partial destruction of the slow TnT gene promoter produces a knockdown effect. The double transgenic mice exhibited decreased expression of slow TnT mRNA and protein in adult diaphragm muscle. As a consequence of slow TnT deficiency, the sTnT-KD diaphragm muscle contained a higher proportion of fast TnT, decreased slow TnI and binds the N-terminal domain of TnI independently of Ca2þ. TnH, and transmitted to the C-lobe of F1, resulting in a change in the interaction of the TnI inhibitory domain and actin. Decreased Fatigue Tolerance In Diaphragm Muscle Of Slow Troponin T Knockdown Mice Tracking of Qdot Conjugated Titin Antibodies in Single Myofibril Stretch Experiments Reveals Ig-domain Unfolding at Physiological Sarcomere Lengths Constitutive Phosphorylation of Cardiac Myosin Binding Protein-C Increases the Probability of Myosin Cross-bridge Interaction with Actin Obscurin Interacts with a Novel Isoform of Myosin Binding Protein C-Slow to Regulate the Assembly of Thick Filaments work_a7myjphf75ctnh7htjkqdffsi4 Mutations were found in patients with Amish brittlehair syndrome and in other nonphotosensititive TTD cases with mental retardation and decreased fertility but not is a feature similar to that observed in photosensitive TTD, which is caused by mutations in transcription factor together with the protein''s nuclear localization, C7orf11 may be involved in transcription but not DNA repair. results (from test primers 3, 4, 6, and 10) of the PCR-based deletion mapping of the C7orf11 locus in patient 6474 (lane C, control; lane P, did not find any mutations in the two exons and 5′ upstream region of C7orf11 in the other 10 cases of nonphotosensitive TTD, including two cases of Sabinas syndrome and one case of Pollitt syndrome, which suggests Clinical Features and C7orf11 Mutations in Patients with Nonphotosensitive TTD We identified predicted proteins with sequence similarity to human C7orf11 in six mammalian species as work_aaeorgrudjdtdks5nrrozuen5e high concentrations of dextrose are often required through a central venous catheter (CVC) with consequent risk of We describe a series of six cases of CHI due to varying aetiologies from our centre requiring CVC for the management of hypoglycaemia, who developed thrombosis in association with CVC. incidence and risk factors for CVC-associated thrombosis, as well as the outcomes of enoxaparin prophylaxis. receiving enoxaparin prophylaxis, none developed thrombosis or bleeding complications. CHI severity may be a risk factor for thrombosis development. often requiring central venous catheter (CVC) insertion to of CVC-associated thrombosis in CHI patients, presented Table 1 Characteristics of CHI patients with and without thrombosis. Thrombosis was associated with a marginally higher proportion of patients with compound heterozygous and homozygous KATP mutations. The characteristics of the patients on enoxaparin prophylaxis were similar to those with thrombosis. infused via the CVC prior to thrombosis development, a work_ab5yqvyjbbaqpjryzbekdb7t7m CXCR4, a G-protein-coupled receptor, as highly expressed in mouse models of NF1-deficient MPNSTs, of CXCR4 activity either by shRNA or pharmacological inhibition decreases MPNST cell growth in culture find enriched in Nf1-deficient cells and particularly in Nf1-deficient MPNSTs. Expression of CXCR4 and its ligand, CXCL12, mouse and human MPNST cells, tumor allografts, and spontaneous GEMMs. Moreover, analysis of human primary and cultured MPNST cells, as well as human tissue microarray analysis, reveals conserved pathway activation. sequences (so that it is not targeted by the shRNA) re-established CXCR4 protein levels and overcame the cell growth inhibition (Figures 2A and S2B). 104 or 105 MPNST-Tripz-CXCR4 cells were injected subcutaneously into nude mice, and one group received D1 protein level decrease in CXCR4-depleted MPNST cells and MPNST cells with exogenous CXCR4 expression (Figures 3E CXCR4-depleted MPNST cells (Figure 4A). mRNA and protein levels in CXCR4-WT-MPNST cells (Figures CXCL12 protein to cultured CXCR4-depleted MPNST cells. work_abg2myyspbafvhpaoajltcldbm Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study | Semantic Scholar Corpus ID: 52269657Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study title={Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study}, van Beers, Stephanie van Straaten, +34 authors R. Figures, Tables, and Topics from this paper Pyruvate Kinase Deficiency Natural History Study Citation Type Management of Pyruvate Kinase Deficiency in Children and Adults. How we manage patients with pyruvate kinase deficiency View 2 excerpts, cites background View 2 excerpts, references background View 2 excerpts, references background Journal of blood medicine View 1 excerpt, references results By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_adz7pwkcabavnooqmwryt6miwq Desai, Amogh Bhat, Dallit Bagha, Mrudula Guthikonda, Ezra A. BACKGROUND: Exercise (Ex) electrocardiography (ECG) is the most widely used noninvawe test for evaluating symptoms suggestive of coronary artery disease (CAD). we report additional exercise test variables predictive of negative Ex Echo. All patients (Pts) had a normal resting ECG and adequate exercise capacity by history. majority of women and (2) ~85% of positive Ex ECG associated with negative Ex Echo BACKGROUND Although exercise (Ex) electrocardiography (ECG) IS the most commonly employed initial test to assess patients with symptoms suggestive of coronary pts (110 males, 30 females; mean age 51 yrs [30-821) referred for Ex Echo after a positive Ex ECG and a treadmill workload of 210 METS. RESULTS: Ex Echo was negative in 94% (131/140) of Pts and positive in 6% (9/ negative Ex Echo and thus low prognostic risk in Pts referred because of positive Ex work_ag5ssfgt6bcq5mrogz7ms3tyyq sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219651563 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:38 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_aj4sgsicffheppdug5nimhbyhq lifestyles.1 Of particular interest is the documentation of a protective effect of exposures associated with traditional farming, the influence of how exposure to a traditional farming environment confers protection against asthma and effect of long-term, innate, immune-cell activation by farming-related microbial products (Fig. 1)? Amish farm dust against asthma. protection against allergic asthma to their offspring through mechanisms that involve maternal TLR activation, which suggests that an epigenetic effect may be acquired in utero.8 It is also unclear whether the protective effect of microbial exposure requires live microbes that may asthma risk in Amish and Hutterite farm children. Farming Lifestyle, the Activation of Innate Immunity, and Protection The traditional farming practices in Amish communities protect against n engl j med 375;5 nejm.org August 4, 2016 479 n engl j med 375;5 nejm.org August 4, 2016 479 n engl j med 375;5 nejm.org August 4, 2016 479 work_akoz75lvxbhwlil2kslcb2mddi sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_alvj5gcv7be3zoltrguyulxx2e sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219650424 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:36 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_aokowkobavhn3i4fuupi7tuczy sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219646849 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:32 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_asrgyuf2r5f3zdiug3cin7cvt4 [PDF] MEASUREMENT WITHOUT THEORY, ONCE AGAIN. Corpus ID: 18004131MEASUREMENT WITHOUT THEORY, ONCE AGAIN. Bailey and Collins (2011) argue that Greenwood, Seshadri, and Vandenbroucke''s (2005) hypothesis that the baby boom was partly due to a burst of productivity in the household sector is not supported by evidence. They also argue that the Amish, who limit the use of modern technology, had a baby boom. Figures, Tables, and Topics from this paper Sort by Most Influenced Papers Economic Uncertainty and Fertility Cycles: The Case of the Post-WWII Baby Boom View 1 excerpt, cites background Did Improvements in Household Technology Cause the Baby Boom? View 1 excerpt, references background Semantic Scholar is a free, AI-powered research tool for scientific literature, based at the Allen Institute for AI. By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_asz6onk32fcu3ih2erxiymnxqm cancer risk factors, including breast density, and evaluated the evidence for shared genetic influences We conclude that the genetic components that influence breast density are not independent At present, however, the most commonly used quantitative measure of breast density is the ratio of dense area for percent breast density in a study of 1,370 women In addition to having a documented genetic component, breast density is known to vary with age, hypotheses here in the context of an ongoing familybased genetic study of breast density in women from the component due to individual-specific covariates, including age and menopausal status, the additive genetic breast was inversely related to and significantly genetically correlated with the number of live births (-0.47 F genetic factors that influence breast density and live birth breast density was genetically correlated with BMI in In addition to identifying significant genetic correlations between the dense and nondense areas of the breast work_atpvo4maovghrpmclrxtnvhi4a Position on Environmental Issues and Engagement in Proenvironmental Behaviors with different positions on environmental issues exhibit dissimilar levels of proenvironmental behaviors. First, it was hypothesized that there are differences in sociodemographi c characteristics among individuals with variant positions on environmental issues. use data collected in a general population survey from a random sample of individuals in four communities to test the following hypotheses: (1) that differences in environmental issues; and (2) that individuals with different positions on environmental issues exhibit dissimilar levels of proenvironmenta l behaviors. The percentages of respondents indicating proactive, sympathetic, and neutral positions expressed either proactive or sympathetic positions on environmental issues were Treating individuals who reported neutral positions on environmental issues as Phase I (Table 2) whether proactive and sympathetic individuals differed signi®cantly from the neutral individuals in terms of proenvironmenta l behaviors. expressed proactive positions on environmental issues were signi®cantly more likely work_av4lzmkbbzda3hgvpstyfssllm Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal Here, we report cloning of MCCA and MCCB cDNAs and the organization of their structural genes. complementation groups, CG1 and 2, resulting from mutations in MCCB and MCCA, respectively. We identify five MCCA and nine MCCB mutant alleles and show that missense mutations in Proteins in mitochondrial enriched fractions from cultured fibroblasts were separated by SDS-PAGE, and the biotin-containing subunits of MCC, PCC, and PC were detected with an avidin alkaline mutations identified in MCC-deficient patients are indicated above The protein comigrating with the 66-kDa marker (Figure 4) contained tryptic fragments with sequences corresponding to the conceptual translation of the putative human MCCB cDNA. MCCB cDNAs. Organization of human MCCA residues (Figure 3a), and the corresponding alleles confer no detectable MCC activity when expressed in the work_av7risa7l5fcpp4ydcvirz6lpi "Nicotinic acetylcholine receptor subunit variants are associated with blood by genotyping blood pressure-associated variants (n = 5) in a replication sample of 1,759 individuals acetylcholine receptor, particularly the gamma subunit, in systolic blood pressure regulation. Associated variants were genotyped in an outbred Caucasian population from the Framingham Heart Study as a replication sample. We provide the first evidence that a common genetic variant in CHRNG is associated with systolic blood pressure. Simple linear regression was used to test for the association between genotype and blood pressure in the Framingham sample. only SNP showing significant association with blood pressure in the Framingham sample. Evidence from animal models supports the role of the nicotinic acetylcholine receptor in blood pressure regulation blood pressure levels maintain relatively constant numTable 1: Sample characteristics for the AFDS, FHS, and the HAPI Heart Study. Table 2: Association analysis of polymorphisms in CHRNA1, CHRND and CHRNG with blood pressure in the AFDS. work_avwd5qf26jef3besfviblpinxm Linkage Analysis of a Complex Pedigree with Severe Bipolar Disorder, Recently developed algorithms permit nonparametric linkage analysis of large, complex pedigrees with multiple published genome-screen data from a Costa Rican kindred segregating for severe bipolar disorder. individuals (including 81 affected with BP) could be represented as a single, highly consanguineous 10-generation kindred, for linkage analyses, the family has been of linkage using large pedigrees, mapping studies of complex traits now mainly use less-powerful nuclear-family compute linkage statistics on highly complex pedigrees. Locations, Allele-Sharing Statistics, and P Values for Five Markers Locations, Allele-Sharing Statistics, and P Values for Five Markers the majority of affected individuals shared a marker haplotype in this region (Freimer et al. significance levels for all 25 markers tested on chromosome 18q in the current analysis; each of these markers showed allele-sharing statistics that were 11 SD Linkage Analysis of a Complex Pedigree with Severe Bipolar Disorder, Using a Markov Chain Monte Carlo Method work_awdm4uorxbeabii75j6mtqfpte from mutations in nuclear genes encoding mitochondrial proteins have been characterized. nine are caused by defects of mitochondrial carriers, a family of nuclear-coded proteins that shuttle a variety of Respiratory chain and oxidative phosphorylation diseases can also be caused by mutations of nuclear DNA genes Furthermore, mitochondria communicate with other cell compartments by means of transport proteins (carriers) present in the mitochondrial membrane that allow the selective passage of solutes in and addition, some cancers are caused by mutations in nuclear genes encoding mitochondrial proteins [11,12]. Mitochondrial carrier-related diseases are rare errors of metabolism caused by alterations of nuclear genes encoding mitochondrial These diseases should also include adPEO, which is caused by heterozygous mutations of the ADP/ATP carrier isoform 1 gene (as well as of Mutations in the SLC25A22 gene encoding isoform 1 of the glutamate carrier (GC1) cause a form of early myoclonic epilepsy (EME), work_ayuj6a6l2bfgza5garugsjfqey Contexto: Nos últimos vinte anos, estudos sistematizados têm identificado uma relação positiva entre espiritualidade/religiosidade (R/E) e saúde, notadamente saúde mental. Resultado: Os estudos apontam que pacientes bipolares tendem a apresentar maior envolvimento coping religioso e espiritual (CRE) que pessoas com outros transtornos mentais. ser ampliados, bem como sua relação com o cumprimento do tratamento e as recorrências da doença, as inter venções Getz et al.10, em estudo transversal de 2001, estudaram a influência da atividade religiosa sobre a intensidade de delírios místicos em pacientes cristãos com Koenig3, entretanto, aponta uma diferença qualitativa entre os delírios de um e de outro: pacientes bipolares aspectos religiosos e místicos na vida de pacientes bipolares, bem como a maior frequência com que utilizam Reger e Rogers19, em 2002 nos Estados Unidos, estudaram CRE entre pessoas com transtornos mentais de delírios místicos e religiosos entre pacientes bipolares e esquizofrênicos. work_azaq3cdwgvfptienv63tpp2yju sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_b5y3ozwlprebng76cvzaokrlbu Improper Adjustment for Baseline in Genetic Association Studies of Change in Phenotype | Semantic Scholar Corpus ID: 2731979Improper Adjustment for Baseline in Genetic Association Studies of Change in Phenotype title={Improper Adjustment for Baseline in Genetic Association Studies of Change in Phenotype}, Objective: In studies of associations between genetic factors and outcomes where change in phenotype is of interest, proper modeling of the data, particularly the treatment of baseline trait values, is required to draw valid conclusions. Methods: The authors compared models of blood pressure response to a cold pressor test with and without inclusion of baseline blood pressure as a regressor and evaluate the resultant biases. Figures, Tables, and Topics from this paper Sort by Most Influenced Papers The impact of adjusting for baseline in pharmacogenomic genome-wide association studies of quantitative change Unbalanced Baseline in School-Based Interventions to Prevent Obesity: Adjustment Can Lead to Bias – a Systematic Review When is baseline adjustment useful in analyses of change? work_b6rpg4xtqvhz5fectodhuqxq5e sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_b7xqyx7a3jhtlk2b32qm57iqtq sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219642394 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:27 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_bcy2wuvhwbhkbkgpmdweckb6m4 The GGLEAM Study: Understanding Glaucoma in the Ohio Amish describe the foundation of the Genetics of GLaucoma Evaluation in the AMish (GGLEAM) study to 62 GGLEAM study participants (42 glaucoma-affected and 20 unaffected individuals) received the health and kinship data obtained for the GGLEAM study to interrogate glaucoma genetics and in the AMish (GGLEAM) study to understand the prevalence and risk factors of glaucoma The participants in the Genetics of GLaucoma Evaluation in the AMish (GGLEAM) Features of Genetics of GLaucoma Evaluation in the AMish (GGLEAM) Study Participants. Of the 42 glaucoma-affected Amish in this study, 37 individuals have POAG and 5 have another We established the GGLEAM study to understand glaucoma risk in the Ohio Amish, which are a population isolate. Ohio Amish community members in our study and obtain data from glaucoma-specific studying a complex trait like glaucoma in an isolated, founder population like the Amish work_beakxvk5dvbilo4xdxnqrrji3y detectable APD alternans in 81% of monolayers, and Cai transient Spatially discordant alternans amplifies dispersion of repolarization and can precede conduction block and reentry in whole used optical mapping of membrane voltage and Cai in monolayers to determine whether spatially discordant alternans APD restitution slope was � 1 was 73–59 ms (corresponding to pacing cycle lengths � 180 ms) in control conditions, Pacing-induced Cai Transient and APD Alternans Under Effects of PCL and site on NL behavior during spatially discordant APD alternans. Effects of BAY K 8644 on APD and Cai Transient Alternans during spatially discordant Cai transient and APD alternans. number of NLs during spatially discordant APD and Cai transient alternans A: simultaneous APD (left) and Cai transient (right) alternans amplitude difference maps for beats of the increasing Cai transient and APD gradient during beat 4, conduction block occurs near the NL (dashed white line). work_betqej5fsnb5rm6oo62jjyrj34 [PDF] Mapping biochemistry to metabolism: FDG-PET and amyloid burden in Alzheimer''s disease. Corpus ID: 13910131Mapping biochemistry to metabolism: FDG-PET and amyloid burden in Alzheimer''s disease. title={Mapping biochemistry to metabolism: FDG-PET and amyloid burden in Alzheimer''s disease.}, We evaluated the relationship between amyloid-beta protein (A beta) concentration and the metabolic abnormality in an Alzheimer''s disease (AD) patient as measured by [18F]fluorodeoxyglucose positron emission tomography (FDG-PET). The temporal lobe samples showed no significant correlation between FDG-PET values and A beta deposition. Sort by Most Influenced Papers Journal of Alzheimer''s disease : JAD Assessment of change in glucose metabolism in white matter of amyloid-positive patients with Alzheimer disease using F-18 FDG PET View 1 excerpt, cites background 2 Neuroimaging Alzheimer '' s Disease Computer Science, Medicine By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_bfcjhmcgznhaznccdhpaoyjkdm sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_bfe7rgv72jfh7krsjeijuuvy2q sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219642555 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:27 If you need further help, please send an email to PMC. Include the information from the box above in your message. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_bgprbgx24vgxtjhojqmqayn7am Reproductive cloning, genetic engineering and the autonomy cloned and genetically engineered people would be parents were allowed to use cloning and genetic to give their children the same genes as a preexisting person, whereas genetic engineering genetic engineering as a result of parental choice). parents can affect their children''s genetic endowment.i I shall call environmental choices those choices about genes, parental choice and moral responsibility, and we Another consideration is that cloning and genetic engineering would probably not be used to reduce the array of life plans Parents can in principle use cloning and genetic engineering Some would-be parents may use cloning and genetic ways to avoid parents from using cloning and genetic Reproductive cloning, genetic engineering and the autonomy of the child 93 Reproductive cloning, genetic engineering and the autonomy of the child 93 Reproductive cloning, genetic engineering and the autonomy of the child 93 work_biusobvjfzfobn7njmnnawrbve Epstein-Barr virus-associated smooth muscle Epstein-Barr virus (EBV)-related soft-tissue tumours In patients with solitary EBV-associated found to have multiple EBV-associated smooth lymphoma.3 EBV-associated smooth muscle In addition to patients with AIDS, EBV-associated smooth muscle tumours have been well documented after organ transplantation.4–6 In one series of EBV-associated smooth muscle tumours are seen commonly associated organ transplant is liver, with In the paediatric post-transplant population smooth muscle risk of malignant tumours in patients with congenital immunodeficiency;8 however, the number of cases of EBV-associated smooth muscle tumours EBV-associated smooth muscle tumours in ataxia of EBV-associated smooth muscle tumours in the associated smooth muscle tumours in ataxia telangiectasia: a smooth muscle tumours containing Epstein-Barr virus in Epstein-Barr virus-related smooth muscle tumours in a child virus-associated leiomyosarcomas in liver transplantation Epstein-Barr virus-associated smooth muscle tumours in a patient with an immuno-osseous dysplasia Epstein-Barr virus-associated smooth muscle tumours in a patient with an immuno-osseous dysplasia work_bjbu5wxxofgbbd6jmru2b4gejq Valence band and core-level analysis of highly luminescent ZnO The detailed surface analysis such as survey scan, core-level, and valence band spectra of highly �XPS� and core-level spectra we tried to characterize the surface of ZnO:Na samples at �5 � 10−8 torr with a nonmonochromatized Al K� x-ray source. Y� for bulk and nano-phases, which is attributed to the presence of OH group at ZnO surface.15 The peak intensity of 4. �Color online� VB XPS spectra of bulk and NC''s of ZnO:Na acquired at the pass energy of 60 eV. 5. �Color online� Room temperature photoluminescence �PL� and photoluminescence excitation �PLE� spectra for bulk and NC''s of ZnO:Na. 123102-2 Joshi et al. Figure 5 shows the typical photoluminescence excitation �PLE� and PL spectra of NCs and bulk brightness levels in ZnO:Na NCs over their bulk counterpart. results of exciton lifetimes of both bulk and nano-ZnO:Na work_bkhogaqxtzdqjjh6zn47rgej5a sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219643564 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:28 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_bkowt5cdz5h7xmvknawman3gxi Choreoathetoid movement secondary to cocaine use is a well-documented phenomenon better known as "crack dancing." It consists of uncontrolled writhing movements secondary to excess dopamine from cocaine use. who had been using cocaine for many years and was recently started on paroxetine, a selective serotonin reuptake inhibitor (SSRI) "crack dancing" is associated with excess dopamine. "crack dancing." The authors propose that the excess dopaminergic effect of the SSRI lowered the dopamine threshold for "crack This is the first documented case of an SSRI facilitating the "crack dance." Choreoathetoid movement secondary to cocaine use also We present a first-time occurrence of the "crack dance" This is the first documented case report of the "crack dance" was consulted and concluded these were indeed choreoathetoid movements secondary to cocaine use. Stork and Cantor (1997) documented choreoathetosis secondary to Pemoline use [4]. This is the first case report linking SSRI use to "crack work_bl6owa5zuzbspj4klcbqfzrvia Genetic studies in large outbred populations have documented a complex, highly polygenic basis for type 2 diabetes Most of the variants currently known to be associated with T2D risk have been identified in large studies that The plethora of studies to identify DNA variation that affects risk of T2D in diverse populations worldwide has led us to a better ^^ A common (3% of the population) missense variant was identified in ABCC8 in Pima Indians that associated with a 2-fold increased risk for T2D. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Genome-wide association study in a Chinese population identifies a susceptibility locus for type 2 diabetes at 7q32 near A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese. A genome-wide association study in American Indians implicates DNER as a susceptibility locus for type 2 diabetes. work_bl6rtvsm55hd5as6qawjmn6q2u children aged 8–19 years with National Health and Nutrition Examination Survey (NHANES) data and children from Maryland''s Eastern Shore (ES), a nearby, non-Amish, rural community. activity (PA) and BMI are inversely correlated, and that OOA children are more physically active but OOA children spent an additional 34 min/day in light activity (442 6 56 vs. Amish community suggest that OOA children are very rarely overweight compared the OOA Childhood Obesity Study to collect data in OOA children and adolescents sex-adjusted BMI of OOA children with estimates from the National Health and Nutrition Examination Survey (NHANES). Study by adding, as a third aim, a comparison of PA levels in the OOA children Actical data from 198 OOA children dual-device (i.e., simultaneously wearing Actical and Actiwatch) OOA children Our study compared anthropometric observations from 270 OOA children ageand sex-specific CDC median as a function of time spent in MVPA in OOA children work_bncpmdh27vb3pkpgy6fprvezxy determine the impact of obesity-dependent insulin resistance on the regulation of two omentin isoforms, gene expression and plasma levels were measured in lean, overweight, and obese subjects. In addition, higher plasma omentin 1 levels were detected in women compared with men. In summary, decreased omentin levels are associated with increasing obesity and insulin resistance. Effect of obesity on human plasma omentin levels. Human plasma omentin 1 levels negatively correlate plasma omentin levels, visceral adipose gene expression Correlations of metabolic syndrome–related traits with plasma omentin 1 levels in 91 Amish subjects 4. Plasma omentin 1 levels correlations with obesity and insulin resistance markers. components analysis adjusted for sex, age, and family structure were found between plasma omentin 1 levels with BMI (n � 91, r � �0.34, P � 5. Visceral adipose omentin 1 and 2 gene expression levels are work_bt3gdghikvewljtexgbvfl5u6q I have been a professor in the Dartmouth College Economics Department since 1973 and am also the Robert C. Their common theme holds that local governments should be thought of as active economic agents rather than passive "creatures of the state." My most recent book is "Zoning Rules! A general economic theory of local government behavior was the subject of "The Homevoter Hypothesis" (Harvard University Press in 2001). "Regulatory Takings" (Harvard University Press, 1995) investigated the constitutional ways by which the excesses of zoning might be curbed by the judiciary without infringing on the creativity and autonomy of local governance. My 2009 book, "Making the Grade" (University of Chicago Press), explores the economic evolution of American public school districts, the local government boundaries that home buyers care most about. Janice and I have for years followed Dartmouth men''s basketball, and I have most recently served as an academic advisor to the team. work_bu5xsc37pjfgzd6uzvwd35wjga P/4 Import and assembly of mitochondrial proteins University of Freiburg, Germany E-mail: nikolaus.pfanner@biochemie.uni-freiburg.de precursors are imported via the translocase of the outer mitochondrial membrane (TOM complex) and are subsequently sorted into the four mitochondrial subcompartments, outer membrane, intermembrane space, inner membrane and matrix. presequence translocase of the inner membrane (TIM23 complex). (ii) Hydrophobic inner membrane proteins complex (small Tim proteins) and inserted into the inner membrane (iv) Betabarrel proteins are transported from the TOM complex to the These mitochondrial disorders were the first to be investigated after the small mtDNA had defects of mitochondrial carriers, a family of nuclear-coded proteins Mutations of mitochondrial carrier genes involved in mitochondrial functions other than oxidative phosphorylation are Defects of mitochondrial carriers that supply mitochondria with the substrates of oxidative phosphorylation, inorganic phosphate and ADP, are responsible for diseases characterised by P/6 The water oxidizing enzyme E-mail: alfred.rutherford@cea.fr efficient catalyst for oxidizing water. mitochondrial complex I mailto:nikolaus.pfanner@biochemie.uni-freiburg.de mailto:alfred.rutherford@cea.fr work_bu7yysz2ija7jkgmwurb73w46y CNTNAP2 gene dosage variation is associated with A homozygous mutation of the CNTNAP2 gene has been associated with a syndrome of focal in haploinsufficiency of the CNTNAP2 gene in association with epilepsy and schizophrenia. Genomic deletions of varying sizes affecting the CNTNAP2 gene were identified in three nonrelated Caucasian patients. gene may lead to a complex phenotype of schizophrenia, epilepsy and cognitive impairment. Keywords: epilepsy; schizophrenia; CNTNAP2; copy number variation We identified a hemizygous deletion involving chromosome region 7q34–7q36.1 in patient 1 by routine We identified a second hemizygous deletion involving CNTNAP2 in patient 2 by tiling-resolution array Figure 1 Genomic deletions of the CNTNAP2 locus in chromosome 7 in three patients. (b) MLPA confirmation of the deletions in CNTNAP2 in all three patients. Sequence analysis of all 24 exons of the CNTNAP2 gene dosage variation of the CNTNAP2 gene and epilepsy CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy work_bvinbbrjozat7cwicu5w3nemje Keywords: Toleration, Multiculturalism, Migration, Cultural pluralism, Ethnic is defined by citizenship and individual rights, and prevails over citizens'' other cultural identities. governance of migration refers to the creation of favourable conditions wherein different ethnic groups can express their emergent ''post-modern'' model of pluralism that transcends the limits of the opposing process of group identity and that cultural identity, which is instead determined by individual choice.17 As Walzer writes, "The state claims exclusive In private, they continued the cultural traditions of their ethnic groups, and this was expressed by the development This socio-political context allowed for the expression of ethnic self-assertion by groups whose private resistance Critics of multiculturalism also privilege identity defined by citizenship and its rights and protections over group CLIM 4.2002 Andreas LöSCHEL: Technological Change in Economic Models of Environmental Policy: A Survey STAVINS: Lessons from the American Experiment with Market-Based Environmental Policies work_bw2b7bxkvng45kf6nsyuhiuree Securing the West: Politics, Public Lands, and the Fate of the Old Republic, 1785–1850 by John R. Securing the West: Politics, Public Lands, and the Fate of New Stories from the Midwest, then, is not, by design, a "best of " collection, though there was this winnowing process to get here. Van Atta, Securing the West: Politics, Public Lands, and the Fate of the Van Atta seeks to demonstrate just how crucial public land policy was in the fi rst decades of the republic. Congress settled upon something of a hybrid— selling the land at public public education in the new lands, Maryland and other older states began antitariff position of South Carolina''s Robert Hayne, the debate had really the question of the public lands, and slavery as a political issue became Dana Elizabeth Weiner, Race and Rights: Fighting Slavery in the Old Northwest. work_bwouymzw35bwteu5ovig5uo3ju sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219630465 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:12 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_bxuw45adpfguzemurkmy5up2we sclerosis, recently presented to us with tiredness and recurrent seizures after being fit free patients with tuberous sclerosis who present An alteration in head position influences the amplitude of head tremor.3 There is some amplitude of head tremor changes considerably with head position. head tremor over a period of 20 years. The amplitude of head tremor was measured using an angular accelerometer (Schaevitz, ASAMP-50), with the sensitive axis With neck flexion, tremor amplitude increased in magnitude eight-fold though the frequency did not supine, the amplitude of head tremor was marked change in amplitude of head tremor implies that the head tremor was not influenced by otolith function, whose tonic firing evidence against the head tremor being influenced by the otoliths in this patient. patients with clear dystonic head tremor in a clear otolith influence upon head tremor change in head or body position may in itself work_byaj4g33svhjni6smhngxbcfee Rough or textured hydrophobic surfaces are dubbed "superhydrophobic" due to their numerous desirable properties, such as water augment the surface texture design, so that the barriers to dewetting Surface roughness or texture can transform hydrophobic surfacesinto "superhydrophobic" surfaces and endow them with properties such as water repellency, self-cleaning, interfacial slip, and texture, so that a drop of water sits atop an air cushion in the socalled Cassie state, contacting only the top of the surface asperities. morphologies that precede the formation of the classical vapor–liquid interface at the basal surface; the nonclassical pathway offers a texture to further destabilize the Wenzel state and reduce the barriers to dewetting. Cassie and Wenzel states; water does not penetrate the surface Water on textured hydrophobic surfaces can exist in either the Cassie or free energy of water in Cassie and Wenzel wetting states on rugged solid surfaces at work_c2cmx2tn7bdevl64ztnr5fdfiu The aim of this study was to evaluate the value of peritoneal cytology as part of the staging of gastric cancer and • Comparative studies of patients with positive and negative peritoneal cytology This pooled analysis demonstrated that negative cytology following neoadjuvant chemotherapy was associated with significantly improved overall 17Prognostic significance of peritoneal lavage cytology in staging gastric cancer: systematic… 17Prognostic significance of peritoneal lavage cytology in staging gastric cancer: systematic… 17Prognostic significance of peritoneal lavage cytology in staging gastric cancer: systematic… 17Prognostic significance of peritoneal lavage cytology in staging gastric cancer: systematic… treatment for gastric cancer patients with positive peritoneal cytology at staging laparoscopy improve survival? Prognostic role of positive peritoneal cytology in patients with resectable gastric cancer. Prognostic significance of peritoneal lavage cytology in staging gastric cancer: systematic review and meta-analysis Prognostic significance of peritoneal lavage cytology in staging gastric cancer: systematic review and meta-analysis work_c2eliqr35fhynpda67fqb2v6gu missense mutation was identified in HEATR2, an uncharacterized gene that belongs to a family not previously associated with ciliary Airway epithelial cells isolated from PCD-affected individuals had markedly reduced HEATR2 levels, absent dynein outer dynein arms, reduced flagellar beat frequency, and decreased cell velocity. RNA-mediated knockdown of HEATR2 in airway epithelial cells from unaffected donors. human airway epithelial cells showed that HEATR2 was localized to the cytoplasm and not in cilia, which suggests a role in either dynein both individuals and model organisms and shows that exome sequencing in family studies facilitates the discovery of novel diseasecausing gene mutations. have been identified through sequencing of human homologs of genes discovered by screening for ciliary dysfunction in model organisms, including Chlamydomonas reinhardtii. HEATR2 shRNA-silenced cells (Figure S6). Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia work_c2yhnhhve5b5bivjp6dwsx63ay Understanding the needs and wants of consumers in the process of new product development has been recognized as an essential aspect of preparing effective marketing strategies for the The new product development strategy has now moved into Consumer-Driven of CDI, this study aims at identifying to what extent visitors as tourism product consumers and co-producers can be involved in a new product development process and reinvent the products by providing product development process, adding their creativity to the tour itinerary and design elements. Consumer-Driven Innovation (CDI), new product development, visitor-focused on consumer research to gain their innovative insights in the new product development Other studies attempted to capture tourism consumption by interpreting tourist movement patterns (Cooper, 1981; Tussyadiah & Fesenmaier, assess a tour or other tourism programs, especially in the process of new product development. diary were developed based on previous studies focusing on visitor movements and experiences (see Tussyadiah & Fesenmaier, 2007; work_c3uj7d3unjac3kqk7i3hfq7d74 Linkage Studies Suggest a Possible Locus for Bipolar Disorder Near the Velo-Cardio-Facial Syndrome Region on Chromosome 22 Twin, family, and adoption studies show that the vulnerability to develop bipolar disorder is inherited [Nurnberger et al., 1994; A recent genome-wide search also failed to provide convincing evidence for linkage to any chromosomal locus [Coon et al., 1993]. 1990] in conjunction with conventional lod score analysis, evidence was obtained for linkage to chromosomes 22q11 to determine whether linkage could be established in 17 multiplex families with bipolar disorder. Table IV summarizes the lod scores for each population and for the combined family set for the three markers used in the initial screen. In the combined families, only D22S303 yielded suggestive evidence of linkage in single-locus analyses (P 4 0.018). Published reports to date in which chromosome 22q markers have been examined in bipolar families indicate no evidence for linkage [Coon et al., 1993; chromosome 22q11 result in bipolar affective disorder. work_c4esbhijcvdatdtfedsxqmu33e The form of politics: Aristotle and Plato make sense of friendship, whether in history (Caine, 2014), in Politics (Smith, personal and political culture, it is no wonder that the Greeks made friendship the Friendship is addressed in several of Plato''s works, most Heyking draws upon Plato to provide a complete picture of political friendship, Von Heyking''s work serves as a great introduction to Aristotle and Plato''s views friendship, The form of politics is a great introductory work to Plato and Aristotle, contemporary debate on friendship, Von Heyking offers a very important ancient concept of political friendship: that of festivity. In sum, Von Heyking offers scholars a great introduction to Plato and Aristotle''s Von Heyking''s work is the idea of how the political community comes together and strengthens itself through festivity, an overlooked aspect of political friendship the The form of politics: Aristotle and Plato on friendship The form of politics: Aristotle and Plato on friendship work_c4q2v2ncwzfnpby4hrzq4ikjwm sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_c5cmdww56zfvndh6ssls2ne5oq The "problem" of minority education in an international perspective | Semantic Scholar Corpus ID: 7460810The "problem" of minority education in an international perspective title={The "problem" of minority education in an international perspective}, The chapters in this issue originated in the Comparative and International Education seminar given each year at the Pennsylvania State University and re#ect nearly two years of ongoing work analyzing minority educational policy from a crossnational perspective. Sort by Most Influenced Papers View 1 excerpt, cites background View 1 excerpt, cites background View 1 excerpt, cites background View 1 excerpt, cites background The Problem of Japan: Qualitative Studies and International Educational Comparisons View 2 excerpts, references background View 2 excerpts, references background View 2 excerpts, references background View 2 excerpts, references background View 2 excerpts, references background View 2 excerpts, references background View 2 excerpts, references background work_c62aded5vbf45h6oo5csw2s3au [PDF] The impact of molecular genetics on our understanding of the psychoses. Corpus ID: 5000105The impact of molecular genetics on our understanding of the psychoses. title={The impact of molecular genetics on our understanding of the psychoses.}, Studies demonstrating the linkage to separate chromosomal locations of Alzheimer''s disease, manic depression, and schizophrenia require re-evaluation of our ideas of their genetic aetiology. This article reviews the findings, and explores the increasing contribution of the ''new genetics'' to our understanding of the organic and functional psychoses. Sort by Most Influenced Papers The Potential and the Pitfalls of Molecular Genetics for Psychiatry: An Overview Ethical Implications of the New Genetics for Psychiatry New findings in psychiatric genetics: implications for social work practice. Ethics, Molecular Genetics, and Psychiatric Disorders Molecular genetics and human disease. Psychology, Medicine Psychology, Medicine Semantic Scholar is a free, AI-powered research tool for scientific literature, based at the Allen Institute for AI. work_c7jttykpwrdjzkl5i3llnocfau We profiled genome-wide DNA methylation patterns in DNMT3A c.2312G > A; p.(Arg771Gln) carriers in a large Amish sibship with These findings were most marked in a carrier of the AML-associated driver mutation p.Arg882Cys. Our studies additionally defined phenotype-related accelerated and decelerated epigenetic aging in two histone methyltransferase disorders: NSD1 Sotos syndrome overgrowth disorder and KMT2D Kabuki analysis comparing Amish DNMT3A c.2312G > A; p.(Arg771Gln) pathogenic variant carriers and wild-type family members using the Illumina 450K array. (C) Top 20 Gene Ontology enrichment analysis categories associated with the 2606 DMPs identified in DNMT3A c.2312G > A; p.(Arg771Gln) pathogenic variant carriers versus wild-type Boxplot illustrating the DNA methylation changes observed in association with the DNMT3A TBRS variants studied at the DMPs identified in the Amish TBRS DNMT3A variants are associated with epigenetic age acceleration In both overgrowth conditions, TBRS and Sotos syndrome, we identified accelerated epigenetic aging as measured by the DNA methylation age calculator work_c7qnf2pkyveadpsn6ermq2ytoq Primary hip arthroplasty for the treatment of alkaptonuric hip arthritis: 3to 24-year follow-ups ochronotic hip arthritis, in particular to report how to establish the diagnosis and some tips to limit complications. All patients had a stiff spine, grossly restricted movements of hip Total hip replacement was performed in all patients. Conclusion: Total hip replacement gives long-term satisfactory results in patients with alkaptonuric hip arthritis, hip, knee, elbow, and shoulder can alleviate pain and increase patient''s daily activities [2]. A case series of 10 patients (12 hips) with alkaptonuric All patients were diagnosed with ochronotic hip arthritis, and underwent primary Fig. 1 a & b Anteroposterior and lateral X-ray films of the pelvis, with both hip joints showing reduced join space with degenerative changes, the establishment of the diagnosis of ochronosis and performance of THR for alkaptonuric hip arthritis. Case report of a patient with ochronosis work_c7x4fp5evvf4hmd6kmzo7emlfq sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219643783 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:28 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_cahtniadobbrxghnbbjs2o6h5u When serving Amish patients, special consideration should be given to addressing potential barriers to health care use, such as unique dialects, affordability issues for largely Keywords: Amish, community pharmacy, cultural competence, barriers, alternative of a pharmacist is individual patient care, and service obligations sometimes extend beyond the individual to the community and society.1 Ethical guidelines also note the need for rural locations (including communities near Amish settlements), necessary health care services may be unavailable and culture can help pharmacists serving Amish communities to minimize barriers that may interfere with Language assistance services may be needed if patients have limited English proficiency, although many Amish community members are bilingual. When asked about the training, if any, that his staff (pharmacists, pharmacy technicians, and clerks) receive before interacting with Amish patients, Wood added the following: "I tell staff limit access to medical and pharmacy care for Amish patients. work_cg3dis5axjholltbutq76ymzpa Anaesthetic management of patient with Ellis Van Creveld syndrome A known case of Ellis-Van Creveld Syndrome was Ellis-Van Creveld Syndrome or chondroectodermal described by Ellis and Van Creveld2 in 1940 and this disease A 36 year old female, known case of Ellis-Van Creveld Syndrome, presented in the hospital emergency evaluated by cardiologists and placed in high cardiac risk Ulnar artery cannulated for invasive arterial pressure monitoring. General anaesthesia with pressure control ventilation polydactyly, ectodermal dysplasia, a small chest, and a high with Ellis-van Creveld syndrome revealed that the cartilage thoracic dysplasia, respiratory insufficiency and cardiac anomalies, thoracic dysplasia and morbid obesity were dystrophy6 (Jeune syndrome) and short limb polydactyly respiratory infections, cardiac failure and dental care in Ellis-Van Creveld''s syndrome (a case report). A syndrome characterized by ectodermal dysplasia, Chondroectodermal dysplasia (Ellis-van Creveld syndrome): a case report. (Ellis-van Creveld syndrome) with fetoscopy and ultrasound. Ellis-van Creveld Syndrome, Jeune work_chkdq54dxzawhmoxya53tmzpee microtissue size (spatial) and hypoxia (chemical) can be used in the formation of physiologically more relevant constructs (or not) for cell-based high-throughput screening (HTS) in drug discovery. might be incompetent if tested with a microtissue tumor model having a larger size, owing to drug testing by differentiating stem cells, a larger between microtissue size and gene expression Hypoxia controlled genes/proteins found upregulated in 3D/2D comparative studies. Abbreviations: IL, interleukin; CXCL2, Macrophage inflammatory protein 2; FTH1, Ferritin Heavy subunit; FTL, Ferritin Light subunit; HIG2, hypoxia-inducible gene 2 protein; ND, Not in terms of promoting stem cell growth, differentiation and development of complex physiologically relevant structures and functionality. effects of hypoxia on stem cell function, embryonic embryonic stem cells cultured at reduced oxygen Microtissue size and hypoxia in HTS with 3D cultures Microtissue size and hypoxia in HTS with 3D cultures Hypoxia and stem cell niches Hypoxia and stem cell niches work_cjurhmtfjfdalauwaclm3lhpme sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219634656 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:17 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_ck5irl2nzbfz7hwds55aoietn4 The response of these heterozygotes to a Step 1 diet low in fat, saturated fat, and cholesterol, and to 2.2 g daily of plant sterols (as esters) was determined in Protocol I (16 weeks) and Protocol II (28 weeks) with plant sterol spread produced a significant treatment effect on LDL levels in Protocols I and II. During the placebo spread washouts, LDL levels increased, while those of plant sterols decreased to baseline levels in both protocols. heterozygotes studied in Protocol I was next assessed, focusing on the plasma levels of LDL cholesterol and plant sterols. Comparisons of mean plasma levels of LDL-cholesterol, sitosterol and campesterol responses to intake of plant sterol ester-containing Response of obligate heterozygotes for phytosterolemia to a low-fat diet and to a plant sterol ester dietary challenge Response of obligate heterozygotes for phytosterolemia to a low-fat diet and to a plant sterol ester dietary challenge work_cmnqsygqi5fq5fx4avlfdzxiqq ABSTRACT Estimating population size in a mark–recapture framework using DNA obtained from remotely collected genetic samples the size of an argali (Ovis ammon) population that was believed to be isolated from others within the Big Pamir Mountains, Afghanistan, an Our model-averaged estimate for female argali in the Big Pamir was 172 (95% CI 5 117–232), higher mortality than females during the sampling period, or, more likely, males moved in and out of the Big Pamir area. from DNA did not provide a clear overall population estimate, it suggested that the Big Pamir was not isolated from other argali populations, Estimating argali population size using mark–recapture models and fecal Number of argali, classified by sex and age, that we visually observed during each session, Big Pamir Mountain Range, Afghanistan, summer 2007 Top ranked candidate models of probability of capture (p) of female argali in the Big Pamir Mountains, Afghanistan, 2007–2008, based on work_cojhgivf5baxfetvj6seox3mcu E. Free Exercise Claims by Profit-Seeking Individuals and Corporations Court held that the law burdened Lee''s religious exercise, but it also found Exercise Clause, and a religious corporation could state a claim under religious exemption."321 The court claimed that to state that Congress religion, "a faith-based, for-profit corporation can claim free-exercise corporations cannot pursue religious exercise.360 The Lee Court stated: allowed closely held corporations to state the free exercise claims of their Cir. 1988), which held that for-profit corporations can assert the free exercise claims of their exercise of religion," and because the court held that a corporation cannot RFRA protected individuals and religious organizations, corporations, and to state RFRA and free exercise claims.489 The Court has not previously First, if courts allow secular corporations to state RFRA claims, then right.497 The Court did not allow corporations to claim the protections of Corporations should have the ability to state RFRA claims, and the Court work_coty7ab54zgkndtheui7qithrq Expanding the use of real‐time electromagnetic tracking in radiation oncology electromagnetic tracking systems are expected to play a continued role in improving the precision of radiation delivery. radiotherapy in the treatment of localized malignancies has also led to advancements in electromagnetic tracking systems. position may provide an avenue to gate the treatment beam without additional dose to the patient and is conducted in real time, while many imaging techniques cannot be done in real time Reprinted from Sawant A, et al.,(22) (Int J Radiat Oncol Biol Phys.) with permission from Elsevier Inc. 40 Shah et al.: Electromagnetic tracking 40 Investigators at Emory University have recently started a clinical trial to evaluate intrafractional cervical motion utilizing an electromagnetic tracking system in cervical cancer patients. of cervical motion and tumor regression during radiation therapy with the use of electromagnetic tracking.(50) such example, Willoughby et al.(39) reported on the use of electromagnetic tracking during work_cqgkqcqrf5akrkxz4uariw27ri Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy Dovepress variant has been identified in the SYPL2 gene associated with morbid obesity.8 This obesity, which can then result in the metabolic syndrome, type 2 diabetes mellitus, Submit your manuscript here: http://www.dovepress.com/diabetes-metabolic-syndrome-and-obesity-targets-and-therapy-journal Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy is Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy is Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy is in the fields of diabetes, metabolic syndrome and obesity research. Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy 2015:8submit your manuscript | www.dovepress.com Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy 2015:8submit your manuscript | www.dovepress.com Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy 2015:8submit your manuscript | www.dovepress.com Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy 2015:8submit your manuscript | www.dovepress.com Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy 2015:8submit your manuscript | www.dovepress.com http://www.dovepress.com/diabetes-metabolic-syndrome-and-obesity-targets-and-therapy-journal work_cvyelndsi5evzf56ftjl3k6une Amish farming in St. Lawrence County, New York, embodied ecological agriculture in some respects but The high use of petroleum-based inputs may have reflected the newness of Amish settlement in St. Lawrence County, a lack of awareness of the ecological impacts of these substances, and non-Amish farming, it is obvious that there are several differences with respect to diversity, technology, use of petroleum, self-sufficiency, harmony with nature, and involveissues in farming, as well as energy and land use patterns in Amish and non-Amish agriculture. studied a single Amish farm in Holmes County, focusing on soil characteristics, in comparison with a single non-Amish farm that used no-till agricultural methods. Distribution of Amish and non-Amish farms in study region, St. Lawrence County, New One Amish farmer was uncertain about his crop rotation, because he had been farming in the region for only one year at the time of the study. work_cz6pt5sdg5ahljmgw64pclamfi [PDF] FDG PET / CT Pitfalls in Gynecologic and Genitourinary Oncologic Imaging 1 | Semantic Scholar Corpus ID: 13752824FDG PET / CT Pitfalls in Gynecologic and Genitourinary Oncologic Imaging 1 title={FDG PET / CT Pitfalls in Gynecologic and Genitourinary Oncologic Imaging 1}, Figures and Tables from this paper View All 21 Figures & Tables The role of FDG-PET/CT in gynaecological cancers The Indian journal of radiology & imaging Journal of Nuclear Medicine View 1 excerpt, references background View 1 excerpt, references background View 1 excerpt, references background View 1 excerpt, references background View 1 excerpt, references background View 1 excerpt, references background Figures and Tables Semantic Scholar is a free, AI-powered research tool for scientific literature, based at the Allen Institute for AI. By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_d2vlqp2a4je3fabhoptt7ywi3q This book would be an excellent addition to community and behavioral medicine curricula in both residency and medical school settings. first section addresses the patient, with chapters on human health and disease and individual and family development; the second section deals with becoming This book successfully keeps the focus on the patient-physician relationship by inserting case presentations at regular intervals. This textbook of excisional cutaneous surgery is designed for medical students, residents, and practicing chapters on diagnosis, practical anatomy, wound healing, skin biopsy, local anesthesia, surgical instruments, wound closure materials, patient preparation, basic excisional surgery, surgical complications, special topics pulls the reader into his life and provides a very enjoyable reading experience. A physician with community practice background Anyone who seeks to understand the practice of medicine in community would benefit from reading this Patients Are a Virtue: Practicing Medicine in the Pennsylvania Amish Country. practiced and cared for his patients. work_d4jrxjhqdbgq7knqeqesicy62q [PDF] A Common DIO2 Polymorphism and Alzheimer Disease Dementia in African and European Americans | Semantic Scholar Corpus ID: 3789659A Common DIO2 Polymorphism and Alzheimer Disease Dementia in African and European Americans title={A Common DIO2 Polymorphism and Alzheimer Disease Dementia in African and European Americans}, A common single nucleotide polymorphism in DIO2, Thr92AlaD2, has been associated with a transcriptome typically found in neurodegenerative diseases in postmortem human brain tissue. Figures, Tables, and Topics from this paper Thyroid Gene Variation May Increase Risk for Alzheimer''s Disease in African Americans View 3 excerpts, cites background View 3 excerpts, cites background Journal of Alzheimer''s disease : JAD Elizabeth A McAninch, Sungro Jo, +12 authors A. View 7 excerpts, references background and methods View 7 excerpts, references background and methods By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_d5b3ddpd25bcbpli2qjhgbycr4 sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219641664 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:26 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_d5bokglzzfcn5nyiisl7q7jczq A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia A Novel Form of Lethal Microcephaly With Simplified lethal form of autosomal recessive microcephaly of prenatal disproportionately small head, fetal distress, apnea, seizures patients died within hours to weeks after birth following for the only reported early lethal microcephaly gene found be a distinct genetic cause of lethal microcephaly. � 2007 Wiley-Liss, Inc. Key words: lethal microcephaly; simplified gyral pattern; microcephaly with simplified gyral pattern and brain stem hypoplasia. Microcephaly is defined as small head size Amish lethal microcephaly (MCPHA) locus on A–C: CT images of Patient 3 reveal a simplified gyral pattern with normal to thinned Like our patients, children with Amish lethal Amish lethal microcephaly: A new metabolic disorder A NOVEL FORM OF AUTOSOMAL RECESSIVE LETHAL MICROCEPHALY 2767 A NOVEL FORM OF AUTOSOMAL RECESSIVE LETHAL MICROCEPHALY 2767 A NOVEL FORM OF AUTOSOMAL RECESSIVE LETHAL MICROCEPHALY 2767 work_d5qbk6tf3nbexnkqklxkxda5sq Health Needs Assessment of Five Pennsylvania Plain Populations Abstract: We performed a health needs assessment for five Plain communities in Pennsylvania from Plain respondents reported good physical and mental health Most Plain respondents would want a spouse tested for genetic disease with Mifflin County Amish We have previously reported on a health needs assessment of the Amish and Plain Mennonites Plain respondents were as likely to eat fruit and vegetables as the general population of adults in http://gameo.org/index.php?title=Meyersdale-Springs_Old_Order_Amish_Settlement(Somerset_County,_Pennsylvania,_USA)&oldid=113519 http://gameo.org/index.php?title=Meyersdale-Springs_Old_Order_Amish_Settlement(Somerset_County,_Pennsylvania,_USA)&oldid=113519 less likely to receive screening exams compared to the general population of Pennsylvania. Plain respondents generally report better mental health compared with the general population of Mental health and social support in 5 Pennsylvania Plain communities and the general Attitudes towards genetic testing and fatalism in 5 Pennsylvania Plain communities. their geographic and genetic isolation, the health of Plain communities in Pennsylvania is similar to work_d6glz7won5g4xe7cphqritvdne sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219645752 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:31 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_dae2f7duczfjfghhekr4r7pr3e sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219645291 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:30 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_dbbvwgi6and2fokqess5tojy2u Keywords: ubiquitin, p53, Angelman syndrome, Purkinje cells, behavioural analysis, Pathology Section determined in the testes, brain, heart and kidney of Herc2530 mice and detected by X-gal staining. altered in Herc2+/530 mice during the time studied (Figure Figure 3: p53 inactivation did not rescue the lethality of Herc2530/530 homozygous mice. c. The analysis of mice from a cross of double heterozygous Herc2+/530 p53+/animals. mRNA levels was observed in Herc2+/530 mice (Figure 5B). Figure 6: A homozygous mutation in human HERC2 that causes an Angelman-like syndrome reduces the activity of Figure 7: Impaired motor coordination in Herc2+/530 mice. lysosomes observed in Herc2+/530 Purkinje cells (Figure Figure 8: Purkinje cells loss in Herc2+/530 mice. the Herc2+/530 cerebellum indicative of Purkinje cell loss are observed (arrows and arrowheads, in (D-F). Figure 10: Purkinje cell degeneration in Herc2+/530 mice. observed in Purkinje cells of Herc2+/530 mice. work_dbstwym7nnga7hsg3aovt6665m Our studies with the Pennsylvania Plain communities show that population-specific genetic knowledge provides a powerful framework in which to prevent disease, reduce among Old Order communities were the subject of exceptional observational studies, collected in the 1978 landmark Medical Genetic serves Old Order Amish and Mennonite people of Pennsylvania and Maryland, who are the Plain populations ideal for early genetic mapping studies, which relied on large collections of Many mapping studies in Plain populations have identified disease genes in this way Further inspection of SNP allele frequencies shows that Amish and Mennonite populations are genetically dissimilar. Table 3 Thirty-seven Amish and 29 Mennonite disorders understood at the molecular level among demes of Pennsylvania, Table 4 Twenty-three genetic disorders mapped using SNP microarrays at the Clinic 1 This table lists a selection of genetic syndromes that cause developmental disorders in Amish and Mennonite and the genetic disorders of the Amish and Mennonite people of Pennsylvania. work_dc5i4ebdpzbbxpdkbmd7dwvfnm Gudkov, PhD, DSci, Professor and Garman Family Chair in Cell Stress Biology, Senior Vice President for Basic Research of Roswell Park Comprehensive Cancer Center, Buffalo, NY Cory Abate-Shen, PhD, Professor, Director of Research, Department of Pathology, Associate Director, Herbert Irving Comprehensive Cancer Center, Columbia University, NY Janeway Professor of Pediatrics, HMS, Scientific Director, CBRI Institute for Biomedical Research.Fred Alt received a PhD from the Department of Biological Sciences at Stanford University. Croce, MD, Professor, member of the National Academy of Sciences, Director of Comprehensive Cancer Center, Chair, Molecular Virology, Immunology & Medical Genetics, The Ohio State University, Columbus, OH He is senior editor of Cancer Research and serves on the editorial boards of eight other scientific publications, including the Journal of Molecular Medicine, Current Cancer Therapy Reviews, Drug Discovery Today: Disease Mechanisms, Journal of Clinical Investigations, Neoplasia, Clinical and Translational Science and The Vietnamese Medical Journal. work_dc65dj7kqzhahmbtmgsuu6ip5a sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219646147 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:31 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_dei6cgumlrcsznxcerm7agpjhm Familial Hypertrichosis Cubiti: Hairy Elbows From Division of Medical Genetics, Johns Hopkins Hospital, Baltimore, U.S.A. Genetically determined hypertrichosis is uncommon, but several forms of familial hairiness have The purpose of this paper is to report the occurrence of undue hairiness of the elbow regions in hypertrichosis cubiti or the hairy elbows syndrome. family, the patient was of small stature, but her general her age, and no other localized hypertrichosis was present. in stature, and, like his sister, his hypertrichosis became Hair was present over the spine during his early years, sibs had any hypertrichosis (Fig. 3). Familial Hypertrichosis Cubiti: Hairy Elbows Syndrome hypertrichosis, while one variety of familial localized has previously been noted in hypertrichosis universalis congenita (Cockayne, 1933). 2. The finger-nails of the affected sibs are short, but not dysplastic. (Pillsbury, Shelley, and Kligman, 1957). and the patient''s localized hypertrichosis seems to Two Amish sibs were born with unusual hairiness of their elbow regions. work_df4xqhw7j5azzfyt2kaqzpee6u Background: Because they are a closed founder population, the Old Order Amish (OOA) of Lancaster County have For example, we calculated the number of founders expected to be contributing genetic material Results: With PedHunter version 2.0 querying AGDB version 4.0, we identified 34,160 presumed living OOA individuals and connected them into a 14-generation pedigree descending from 554 founders (332 females and 222 males) after males) accounted for over 95% of the mean relative founder contribution among living OOA descendants. The procedure to analyze mean RFR of founders in presumed living OOA individuals is illustrated in Figure 2. Flowchart to analyze mean RFR of founders in presumed living OOA descendants. Table 3: Distribution of birth years and numbers of descendants among 554 founders in AGDB4. With new queries and utility programs in PedHunter version 2.0, we identified 34,160 presumed living OOA individuals born in 1930-2000 and connected them into a 14- work_dgybuusj4fezxb3ofqkkpvek7i Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder Results: Here we describe 541 inherited CNV regions, of which 268 are rare in a control population of European origin Keywords: CNV, Bipolar disorder, Family based studies, Mendelian disease genes, Genetics loci with Mendelian disease [32], and 50 CNV regions identified in a subset of individuals from the Old Order Amish rare CNVs in genes that are present frequently in individuals with bipolar disorder (Table 3). individuals, although 7 large, rare, CNVs in genes occurred more frequently in subjects with bipolar disorder To ask if CNVs in disease genes may contribute to the allelic architecture in the Amish family 81 CNV regions that overlap with genes with known disease causing mutations (Additional file 1: Table S3). true for rare (including Amish specific) CNVs encompassing disease genes (narrow phenotype burden: 5.0, unaffected burden 4.0, p = 0.06) (Table 2). work_dha62xblz5dtlgoeoaq4xapdoq muscular dystrophy following linkage analysis Maria Rita Passos-Bueno, I Richard, M Vainzof, F Fougerousse, J Weissenbach, O Broux, D Cohen, J Akiyama, S K N Marie, A A Carvalho, Luiza Guilherme, form of LGMD in a group of families confirmed linkage to the LGMD2 gene at autosomal recessive limb-girdle muscular dystrophies. Progressive muscular dystrophies (PMD) include a group of at least 20 distinct genetic limb-girdle muscular dystrophies (LGMD) analysis study using probes from the 6q2 region in 17 Brazilian families with LGMD In order to verify if there is genetic heterogeneity among AR LGMD families, we have normal) from 11 Brazilian LGMD families this locus and the disease gene in this family. 22) linkage with this locus was excluded, supporting genetic heterogeneity (X2= 15-11, The LGMD families from Reunion, shown Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy analysis in families with autosomal recessive limb-girdle work_dkxsedag55cpvjc36qfsixxdi4 patients to a STEMI receiving center capable of helicopter emergency medical services (HEMS) 1 Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, United States 2 University of Wisconsin -Health, Madison, Wisconsin, United States intervention reperfusion in patients transferred from a rural location to the University of Wisconsin -Madison STEMI overall distances travelled, HEMS intercepting with GEMS Characteristics of urban versus rural utilization of the Polish Helicopter Emergency Medical Service in patients Cost -effectiveness of helicopter versus ground emergency medical services for trauma scene transport in HEMS STEMI transport effort seems favorable tions of HEMS for STEMI transport in the Unit‑ STEMI transfer to enable timely primary PCI Propelling ST-segment elevation myocardial infarction systems of care into the air. Propelling ST-segment elevation myocardial infarction systems of care into the air. Outcomes of physician -staffed versus non -physician -staffed helicopter transport for ST-elevation myocardial infarction. work_dn5l76c7w5dgvlgvdbpbwe2ppq Six cases of cartilage hair hypoplasia from five child of 11-75 years of age (Fig. 8) were seen to be e.g. in the hands of a child aged 5 years 5 months, and those of patients with cartilage hair hypoplasia, his Amish patients, noted that the hair, although centiles for normal hair and that from patients with patients, a boy with the disorder, several hairs were height, like hair calibre, is another feature which centile, did they have cartilage hair hypoplasia? Centile chart showing the sitting height to stature ratio of case 2 (M.J.) and Centile chart showing the sitting height to stature ratio of case 2 (M.J.) and phenotypic expression of cartilage hair hypoplasia. common with cartilage hair hypoplasia but nevertheless they are clearly different conditions. No alteration of hair is reported in pancreatic deficiency neutropenia syndrome. hair hypoplasia but not in pancreatic deficiency To conclude, cartilage hair hypoplasia is a work_dnaoa4trybfmvfskexkidzt764 A preterm infant born to a woman with chronic lead poisoning was found to have the highest blood assessment revealed the mother''s long-term ingestion of lead-contaminated herbal tablets as the significant lead poisoning, encephalopathy may occur.2 Sustained blood lead levels of over 0.5 �mol/L in early childhood are likely to be associated with intellectual had a blood lead concentration of 5.2 �mol/L (the National Lead concentration in the cord blood was 7.6 �mol/L (12 hours before time course of blood and urinary lead concentrations for the course of succimer, urinary lead concentrations fell further, By Day 53, the blood lead concentration appeared to have fallen to a satisfactory level, and an months'' corrected age with a blood lead concentration of 2: Infant blood and urinary lead concentrations from birth to 14 Research Council public health goal for maximum lead concentration in blood (0.48 �mol/L). work_dne3pmjbsbhlzlh4yjsvxcgdva Heterozygous copy-number variants and SNPs of CNTNAP2 and NRXN1, two distantly related members of the neurexin superfamily, via molecular karyotyping and mutational screening in CNTNAP2 and NRXN1 in four patients with severe mental retardation (MR) and Whereas the established synaptic role of NRXN1 suggests that synaptic defects contribute to the associated neuropsychiatric disorders and to severe MR as reported here, evidence for a synaptic role of the CNTNAP2-encoded protein CASPR2 has so far been lacking. an analogous shared synaptic mechanism contributes to the similar clinical phenotypes resulting from defects in human NRXN1 and relatively homogenous group of 179 TCF4-mutation-negative patients, including two sibling pairs, represented a suitable study cohort for searching for additional candidate CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila work_dt3cgbzz5rgyfipvra4g7ff3de troponin (Tn) myofilament regulation to decrease Ca2þ sensitive force production. investigated the effect of in vivo cardiac ischemia on levels of TnI Ser-150 and Deficiency of Slow Skeletal Muscle Troponin T Causes Atrophy of Type I Loss of slow skeletal muscle troponin T (ssTnT) due to a nonsense mutation at decreased levels of other slow fiber-specific myofilament proteins while fast that ssTnT deficiency caused significant atrophy of type I slow fibers and a Attentuating the Depressive Effect of Acidosis with Mutations in Troponin Deficiency of Slow Skeletal Muscle Troponin T Causes Atrophy of Type I Slow Fibers and Decreases Tolerance to Fatigue Deficiency of Slow Skeletal Muscle Troponin T Causes Atrophy of Type I Slow Fibers and Decreases Tolerance to Fatigue Attentuating the Depressive Effect of Acidosis with Mutations in Troponin and with 2-Deoxy-Atp The Effect of Truncated Troponin Components on Activation of Lethocerus Flight Muscle work_dutge74ugbalrerpmbio4oi6dm improving public health by devoting more attention to microorganisms as key stressors and agents in exposure. discovery that pathogenic microbes cause disease in humans precipitated a revolution in public health science and disease of the importance of the human microbiome as a determinant of health and disease are precipitating a second revolution. Emerging knowledge creates a major opportunity to expand the scope of exposure science to incorporate the human and Medicine has defined a research strategy to address health risks that pertain to the interaction of environmental chemicals Keywords Environmental chemical ● health risk ● human microbiome ● infectious disease between the human microbiome and environmental chemicals influence human health risk? chemicals, the human microbiome, and health risk. Committee on Human and Environmental Exposure Science in the Environmental chemicals, the human microbiome, and health exposure to environmental chemicals on the gut microbiome in a Nexus: environmental chemicals, human microbiome, health risk work_dw6244326zgtvhq3gm22k2ul4m tions for screening the general population aged 45 years for diabetes every years to assess the diabetes screening practices in this population. Table 1—Characteristics of respondents aged 45 years reporting screening for diabetes in a p p roach for the diagnosis of asymptomatic diabetes in patients with cystic fib rosis are pre s e n t e d . diabetic CF patients with normal HbA1 c, obesity observed in type 2 diabetic patients the other hand, patients with type 2 diabetes had significantly lower insulin secretion (212 ± 85 pmol l 1 m i n 1, P = insulin sensitivity in diabetic subjects. and glucose effectiveness in type 2 diabetic and glucose effectiveness in type 2 diabetic both of which can be safely used by diabetic patients during exposure to moderately high altitudes. patients with type 2 diabetes who were c o n t rol in patients with type 2 diabetes. work_dwbxxnrckbfsth4j6gsq57v4o4 SNPs within CASQ1 were genotyped in Amish subjects nucleotide polymorphisms (SNPs) in Amish type 2 diabetic cases and nondiabetic control subjects. further, we screened CASQ1 for mutations and determined whether the observed sequence variation was associated with type 2 diabetes and related traits in the Old Next, to examine the relationship between haplotype-tagging polymorphisms in CASQ1 and diabetes, we genotyped DNA from subjects with type 2 subjects in our Amish pedigrees, we tested for associations of SNP genotypes 3 flanking region showed borderline evidence for association to type 2 diabetes (P � 0.076 – 0.093). 2. Association of CASQ1 SNPs rs617698 and rs2275703 with glucose and insulin levels during a 3-h OGTT in nondiabetic individuals. The two SNPs associated with type 2 diabetes, rs617698 Sakul H, Wagner MJ, Burns DK, Shuldiner AR: Genome-wide and finemapping linkage studies of type 2 diabetes and glucose traits in the Old work_dxj5eyymwrefhbjsfxnaquhf34 the liberal argument against human genetic enhancement is internally of human genetic enhancement and earlier morally reproachable eugenic human genetic enhancement, on the other hand, claim that this attempt to genetic technologies in human reproduction are too valuable to renounce on distinguishing mark of the new liberal eugenics is state neutrality" (ibid., p. freedom to use genetic technologies in the field of reproduction (Robertson, legal regulations for genetic technologies, because the freedom to use such argues that human nature should be legally protected against genetic eugenics would not only deprive the genetically enhanced person of the control over which genetic traits their children will inherit, a liberal eugenics argument in relation to genetic modification technologies of the future. parents'' reproductive freedom should also encompass genetic interventions. who draws on a normative conception of human nature to argue against genetic (2004) Liberal Eugenics: In Defence of Human Enhancement. work_dzbldwedqnhtvhedsqsxwyk3fq giyim kuşam, milli kültür içerisinde yer alan önemli bir maddi kültür ögesi olmuştur. edilen bu kelimelerden yola çıkarak milli kültürün önemli bir ögesi olan o dönem Türk Mahmut, Dîvânu Lugâti''t Türk, Giyim-Kuşam ve Süslenme ile İlgili Kelimeler 1915-1917 yılları arasında Kilisli Rıfat tarafınDîvânu Lugâti''t Türk''te Giyim Kuşam Kültürü İle İlgili Kelimeler 263 Örf ve âdetler, inançlar, coğrafya, yaşam biçimi, estetik anlayış gibi hususlar folklorik bir öge olan giyim kuşamın şekillenmesinde etkili faktörler olarak karşımıza çıkmaktadır. Bildiride, Dîvânu Lugâti''t Türk''te tespit edilen giyim-kuşam ile ilgili kelimeler dört 22 ; Tavkul, 1993: 42-43 ; Ögel, 2001: 163 ; ÖzDîvânu Lugâti''t Türk''te Giyim Kuşam Kültürü İle İlgili Kelimeler 267 ögesi olan o dönem Türk giyim kuşam gelenekleri hakkında genel bir bilgi edinilebilmektedir. Dîvânu Lugâti''t Türk''te Giyim Kuşam Kültürü İle İlgili Kelimeler 271 Dîvânu Lugâti''t Türk''te Giyim Kuşam Kültürü İle İlgili Kelimeler 271 Dîvânu Lugâti''t Türk''te Giyim Kuşam Kültürü İle İlgili Kelimeler 271 work_e23e6pqso5asjf57qk2i62ghmq from reliance on any such comprehensive doctrines, out of respect for the plurality of different reasonable ways citizens may choose to live their lives. All of this can, Rawls believes, be endorsed as good, and not just for consequential reasons of stability, by people who hold many different comprehensive doctrines. than Raz. On the Rawlsian view, by contrast, the state has a sphere that is narrower: that of ensuring continued support for the values that form part of the political conception itself, and of distributing to all citizens some important It is important to see that the Rawlsian state does not limit itself to cultivating sentiments and attitudes required by the political conception and its replication over time, although this will be one of its most important educational tasks. reasoning, understood in a more everyday way, both in order to support the political conception and in order to give citizens opportunities to think critically about work_e24tyzztnretpeadv3jykdoe6i Wilson, JF & CARDIoGRAM Consortium 2011, ''Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and https://www.research.ed.ac.uk/portal/en/publications/metaanalysis-of-genomewide-association-studies-from-the-charge-consortium-identifies-common-variants-associated-with-carotid-intima-media-thickness-and-plaque(83ad794a-0341-4c60-94c7-9cd37595774c).html Meta-analysis of genome-wide association studies from the Meta-analysis of genome-wide association studies from the genome-wide association study; genetic epidemiology; genetics; subclinical atherosclerosis; carotid intima media thickness; cardiovascular disease; cohort study; meta-analysis; risk common cIMT and plaque, we carried forward 3 genome-wide significant SNPs and 5 Table 1 presents the genome-wide significant association results for the discovery, second SNP from common cIMT analysis, rs445925 near APOC1, showed a suggestive association of plaque, we identified genome-wide significant associations between 3 regions and APOE gene was not associated with common cIMT in these studies (Supplementary Table atherosclerosis and in recent genome-wide association studies with variation in multiple For plaque, two regions were genome-wide significant in our combined meta-analysis. Genome-wide Association Studies of Carotid Intima Media Thickness and work_e2isf66jzzcbhlsugbvdfu62wa The Clinic for Special Children in Lancaster County, Pennsylvania, is a community-supported, nonprofit pediatric medical practice for Amish and Mennonite children who have genetic disorders. 2002, we have encountered 39 heritable disorders among the Amish and 23 among the Mennonites. emphasize early recognition and long-term medical care of children with genetic conditions. arise from the interaction of the underlying genetic disorder with common infections, malnutrition, injuries, and � 2003 Wiley-Liss, Inc. KEY WORDS: genetic diseases; general pediatric medical care; metabolic diseases; genotype-phenotype correlation Hopkins Press published Medical Genetic Studies of the Amish. the neurobiology of genetic disorders and the pathophysiology of metabolic injuries of the brain. Metabolic Disorders and Syndromes Found in Medical Genetic Studies of the Amish [McKusick, 1978] these disorders, we reasoned that medical care for affected children should be comprehensive medical care for children with complex and unstable disorders. medical care of patients with MSUD The medical care of a patient with a genetic work_e2lujlig6nhszirkge76hzajli We set out to assess changes in creatinine in elderly inpatients following computed tomography (CT) examination and compare hospitals, inpatients over the age of seventy who had a CT examination and a baseline creatinine were identified and their follow-up 677 elderly inpatients who received ICM were compared with 487 controls. acute kidney injury (AKI) compared to 3.5% of inpatient controls (𝑃 < 0.0001). The incidence of post-CT AKI is higher in patients who received IV ICM compared to to compare the incidence of AKI in their patient population group constitutes a small number of patients with a significantly lower contrast dose to the remainder of the study Baseline eGFR ICM group (%) Controls (%) patients with a baseline eGFR > 90 mL/min/1.73 m2 developed AKI compared with 9.1% (19/208), 7.4% (7/95), and meta-analysis, showed no difference in incidence of postCT AKI, between contrast and control groups. of post-CT AKI in elderly patients who received IV ICM with work_e3yo7cmkfvdbxamyqzut4yqskq ATF6, with type 2 diabetes in Caucasian and AfricanAmerican subjects (10). AIRg, acute insulin response to glucose; FSIGT, frequently sampled intravenous glucose tolerance test; SNP, single nucleotide polymorphism. and Arkansas African Americans) included in the International Type 2 Diabetes 1q Consortium. association with type 2 diabetes in an Arkansas AfricanAmerican population. relative; control subjects had normal glucose tolerance tests and no firstdegree relative with type 2 diabetes. We typed 39 SNPs in 191 case and 188 control subjects; an case-control sample (denoted Utah Caucasian in the tables); nonsynonymous variants were forced into inclusion. S157P (1135983); hence, an association with type 2 diabetes was excluded in �1,000 Caucasian case and 1,000 Summary of SNPs typed in Caucasian individual samples for ATF6 region *SNPs also genotyped by the International Type 2 Diabetes 1q Consortium in eight populations but shown here only for the tested for association with type 2 diabetes in this study. work_e4oattmknzchxbaxdcdsoyoq5e sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_ea7puh636na6taxyev5pxojgtm sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219640261 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:24 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_ecu5x6ak5bfslobsugvfyeizke sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_ed3xv6z5mjfmzansnvwnxgsfsq sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219643854 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:28 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_eejq3v3l5vhwlmi6tk4a2s42y4 sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219653364 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:40 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_efimtbip3jhspg5q2selepnoji Oral health and medical conditions among Amish children only a single report about oral health among Amish children has been published approximately three decades ago This study describes oral health among Amish children and their medical conditions The following factors were taken into consideration during the review process: parental perceptions of their children''s oral health care, dental care experiences, The high cost and long distance travel associated with routine, professional dental care makes it difficult for children to maintain good oral hygiene. Conclusions: There are oral and general health disparities among Amish children. among Amish parents with regard to their children''s oral health. Key words: Amish, child, dental caries, mobile health units. for Amish children and their parents in the areas of general health, dental accessibility and dental care. General Health Problems Reported by the Parents of Amish children. Oral Health of Amish children in Geauga County, Ohio seen by the mobile clinic (N=211). work_ehgo5qicand6xfvr3kpfzdthlu Age-related macular degeneration (AMD) is the measurements of macular drusen area and volume Figure 1 The Cirrus automated algorithm provides quantitative measurements of macular drusen area and volume within a 3 mm algorithm creates an elevation map that permits measurement of drusen area and volume. Table 2 Association of age and gender with OCT areas and volumes the CC, after the age of 70 years, the drusen volume and age and drusen area/volume is statistically significant, Table 3 Association of smoking and SBP with OCT areas and volumes Table 4 Correlations between RPE atrophy area and drusen associated with larger drusen area and volume, nor with correlated with larger drusen area and volume in the increased OCT drusen area and volume in the CC and Drusen and RPE atrophy automated quantification by optical coherence tomography in an elderly population Drusen and RPE atrophy automated quantification by optical coherence tomography in an elderly population work_ehnbcajvkfhnxeh3hj5grjqrz4 sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219634612 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:17 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_ei4stnzaj5fhrc25j7xykanray Osteogenesis imperfecta (OI) is a heritable form of bone fragility typically associated with a dominant COL1A1 or COL1A2 mutation. Patterning a new OI mouse model on a specific collagen mutation therefore has been hindered by the Amish (OOA) to define a wide range of OI phenotypes in 64 individuals with the identical COL1A2 mutation. (L1–4) areal bone mineral density (aBMD) Z-scores demonstrated that 73% had moderate to severe disease (less than �2), 23% had mild Bone phenotype was evaluated in four F1 lines of knock-in mice that each shared approximately 50% of their genetic background. Consistent with the human pedigree, these mice had reduced body mass, aBMD, and bone strength. indicate that the G610C OI (Amish) knock-in mouse is a novel translational model to identify modifying genes that influence phenotype The mean OI Z-score for standing height was significantly reduced (p < .0001) compared with family controls for both age groups. work_eig6zabzlnaj3aeduhimqcefsu bone length was more significantly enhanced at later postnatal time points (3 and 6 weeks) than Keywords cephalometric analysis, craniofacial bone, Ellis-van Creveld syndrome, EVC2, statistically smaller linear bone measurements than WT and Het for N-A, E-Pr, E-Bu, Po-A, MuBu, So-E, and Po-E (Fig. 2C). compared angular bone relations between Evc2 WT, Het and KO mice at three different ages. 1 week, the values of angular bone relations of nasal bone to cranial base (ANL/SoEL), At 3 weeks (Fig. 3B), the values of angular measurement in nasal bone to cranial base structures in Evc2 KO mice were affected in the areas of nasal bone, total skull, cranial base, showed significant decrease in most linear bone measurements comparing to WT and Het, except Linear bone measurements of Evc2 mice. Linear bone measurements of Evc2 mice. (C) At 6 weeks, KO mice showed significant decrease in most linear bone measurements comparing to work_ej4trwpxrnggph24rlypuzf4zq sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219636327 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:19 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_ejt7mjpqn5e4hc6nvqxdzv54tm sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219649848 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:36 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_ek5yx2dqpfbyxlfukx4kfdekxa Impact of public health responses during a measles outbreak in an Amish community in Ohio: Keywords: Measles; outbreak response; transmissibility; reproduction number; United States transmission in the affected Amish community only, without potential spill over to the general (nonAmish) population, where immunity levels are high and almost no measles spread was seen (5). number of cases during the first 29 days of the outbreak, prior to initiation of the control measures. and outbreak response), (4) a range of measles vaccine effectiveness (84.8% to 97.0%) at baseline (17), of the outbreak, prior to initiation of control measures, captured well the number of observed cases; the measles cases presenting over 260 days when including the vaccination campaign; the model attributes model estimated approximately 8,500 measles cases presenting over 200 days if no control efforts had Projected and observed daily measles case incidence assuming an initial vaccination coverage work_el7twsa23rcyjoysgb5zclrdbm sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219634064 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:17 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_elvfvrzs7vafpktnccknk3c7vm Therefore, light sources such as incandescent, fluorescent, or LED lamps, must now be However, beneficial wavelength-specific effects from LED sources (630nm) light from LED sources.The patients to provide the required LED blue LED exposure, their sleep behaviour What other health related uses for LEDs LED safety for the Amish their white-LED headlight design provides wider beam coverage and about 0.6 amps.As part of the total LED solution SunLine also manufactures tail lamps light/turn signals [amber LEDs], both of The total cost for the full LED buggy LED solution for these travelers by developing new tail lamp units that contain format and uses 21 x 5mm white LEDs batteries and 21 x 5mm LEDs, this one of these boxed LED lights has been LED products developed in Pennsylvania LED''s in health and safety M A R K E T F O C U S $300 for full LED buggy lighting system work_enex2n4yk5fwrmfxcqbpfantmi Oral habits in form of digit/thumb sucking are common phenomenon and part of childhood behavior. Modified bluegrass appliance is nonpunitive therapy to treat sucking habits. Modified blue grass appliance proved to be very comfortable to patients Oral habit is a part of normal development in children. When child performs sucking habit in the first year of The effect of prolonged sucking habit in children can children who perform sucking habit for longer duration appliance, also known as habit correction roller which gained Management of sucking habit depends upon the age. Appliance therapy involves use of either fixed or removable design in form of palatal crib or spurs. patient used to suck her thumb regularly, 8-9 hrs/day, unconsciously in sleep or when idle from the primary dentition impact of sucking habits on developing dentition. wire which was effective to ending the sucking habit in several "Bluegrass" appliance," Pediatric Dentistry, vol. work_enimbpcth5adtlofg2il3mdd64 Summary of Indiana Farm Fatalities Involving Individuals 55 Years and Older—1988–2017 This study was undertaken to document and summarize Indiana farm work-related fatalities work-related fatalities involving agricultural producers 55 years of age and older. the fatality cases in Indiana since 2012 have been farmers 60 years or older [15]. A total of 1452 reported farm work-related fatalities have been recorded by PUASHP in Indiana since older, which is inconsistent with the negative trend for farm fatalities for Indiana farmers of all ages. older, which is inconsistent with the negative trend for farm fatalities for Indiana farmers of all ages. frequency of older females in fatal farm work incidents has historically been minimal and remains so. The distribution of fatal cases of farmers 55 years and older by county is shown in Figure 5, with The distribution of fatal cases of farmers 55 years and older by county is shown in Figure 5, with work_enmatkc5ungnpann52magphbbu sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219634264 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:17 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_enqsjyt5kvchnisn5vfsklnf3a Society membership is the most effective way to engage in politics, from our texting platform WisMed Voice to in-person meetings with legislators and participating in Doctor Day. BeSTRONG Accelerate your personal and professional growth by joining your peers at our education and leadership development events or on WisMed Community—a members only website built to match you to peer groups with similar interests. Wisconsin Medical Society, Foundation and WisMed Assure staff are working remotely. Dial the Society''s main number 866.442.3800 or email membership@wismed.org and you will be directed to the appropriate staff/department. While the COVID-19 vaccination process continues to develop, the Society has created a webpage for county-specific information. We have been advocating for physicians with state and local public health entities to ensure independent group 1a physicians and staff can access COVID-19 vaccinations where and when available. Ashland-Bayfield-Iron County Medical Society Meeting 2021 Wisconsin Medical Society Annual Meeting Wisconsin Medical Society Board of Directors © Wisconsin Medical Society. work_eotitzasvveflpb6j5qk6tp6by [PDF] Sustained therapeutic hypercapnia attenuates pulmonary arterial Rho-kinase activity and ameliorates chronic hypoxic pulmonary hypertension in juvenile rats. Corpus ID: 16304866Sustained therapeutic hypercapnia attenuates pulmonary arterial Rho-kinase activity and ameliorates chronic hypoxic pulmonary hypertension in juvenile rats. title={Sustained therapeutic hypercapnia attenuates pulmonary arterial Rho-kinase activity and ameliorates chronic hypoxic pulmonary hypertension in juvenile rats.}, Sustained therapeutic hypercapnia prevents pulmonary hypertension in experimental animals, but its rescue effects on established disease have not been studied. Therapies that inhibit Rho-kinase (ROCK) and/or augment nitric oxide (NO)-cyclic guanosine monophosphate (cGMP) signaling can reverse or prevent progression of chronic pulmonary hypertension. Rho kinase mediates right ventricular systolic dysfunction in rats with chronic neonatal pulmonary hypertension. View 5 excerpts, cites background and methods Therapeutic hypercapnia prevents chronic hypoxia-induced pulmonary hypertension in the newborn rat. View 6 excerpts, references background and methods View 6 excerpts, references background and methods View 6 excerpts, references background and methods work_eow2mss35nhgtgiskpicqdso3m Linear Regression Model for Predicting PatientSpecific Total Skeletal Spongiosa Volume for Use spongiosa volume (TSSV) would be a clinically useful tool for improving patient specificity in skeletal dosimetry. S values may be used for skeletal dosimetry without an explicit need to assign or estimate the total red bone marrow volumes (combined tissues of bone marrow and bone trabeculae in cancellous bone) as clinically useful scales for reference S values in skeletal dosimetry. The purpose of the present study was to develop a clinically feasible regression model for predicting in a given patient the cumulative volume of trabecular spongiosa found TOTAL SKELETAL SPONGIOSA VOLUME MODEL • Brindle et al. TOTAL SKELETAL SPONGIOSA VOLUME MODEL • Brindle et al. TOTAL SKELETAL SPONGIOSA VOLUME MODEL • Brindle et al. TOTAL SKELETAL SPONGIOSA VOLUME MODEL • Brindle et al. TOTAL SKELETAL SPONGIOSA VOLUME MODEL • Brindle et al. work_eqe3d4ptn5eqbpekvtso5pmcce Physical Activity and the Association of Common FTO Gene Variants With Body Mass Index and Obesity that there is a substantial genetic contribution to body mass index (BMI), and recently, robust associations of common variants in intron 1 of the fat mass and obesity associated (FTO) gene with BMI, percentage of body fat, and obesity were identified in large studies of white adults and children.1-3 Owing to the high frequency of the detrimental associations of BMI-associated FTO gene variants can be lessened by increased physical activity. We accounted for the relatedness of OOA study subjects by estimating parameter effects conditional on residual correlations in BMI (or similar trait) between related individuals. We evaluated the associations of FTO SNPs on BMI after stratification of the sample according to "high" and "low" physical The presence of an interaction between physical activity and SNP genotype on BMI was assessed by a likelihood ratio test, in which we work_eqy2iovydrgutbv3jh3wetquiu The West Nickel Mines Amish School Murders and the Cultural Fetishization of "Amish Forgiveness" Abstract: In the days and weeks following the West Nickel Mines Amish school murders, hegemonic U.S. cultural discourse largely fetishized the Amish response of forgiveness in revealing ways. the fetishization of forgiveness following the Amish school murders reflected collective concerns that Keywords: Amish; forgiveness; revenge; Fetishism; violence; September 11; Religious Ethics of forgiveness in the days and weeks following the West Nickel Mines Amish school murders. The immediate response of this Amish community to these murderous acts was forgiveness as article, I will explore the U.S. cultural fetishization of forgiveness in the days and weeks following the In U.S. cultural discourse, "9/11" was used in the days following the Amish school murders to Although the Nickel Mines Amish community''s response of forgiveness is a practice drastically Hegemonic U.S. cultural discourse fetishized the Amish response of forgiveness in the days and work_er5n246aknbdvjmidzf5xqs3gq Vitamin D and Coronary Artery Disease? deficiency is associated with coronary artery disease (CAD) (CAC) is strongly associated with risk of vascular disease,3,4 study to investigate the association of single-nucleotide polymorphisms (SNPs) in key genes involved in vitamin D (VDR), Viatmin D-binding protein (GC), known to be involved in vitamin D homeostasis.6 – 8 In the discovery phase, associated with CAC score, 4 SNPs in the CYP24A1 gene Epidemiology Network of Arteriopathy and the Penn Coronary Artery Calcification cohorts (P�0.01 and P�0.007, hydroxy-vitamin D (25[OH]D) levels and this SNP in relatively small populations. genetic determinants of vitamin D levels or CAD.10 FurtherFrom the Department of Epidemiology and Biostatistics (Z.D. and Canada; the Department of Human Genetics (J.B.R.), Faculty of Medicine, Lady Davis Institute, Jewish General Hospital, McGill University, © 2010 American Heart Association, Inc. Arterioscler Thromb Vasc Biol is available at http://atvb.ahajournals.org vitamin d metabolism gene cyp24a1 with coronary artery calcification. work_er7ktefhbrazpke25bxog6j4ai However, kinetic study of microwave-assisted transesterification of papaya oil is not yet reported in literature. Kinetic and Thermodynamic Studies of Microwave-Assisted Transesterification of Papaya Oil Pesent study explores the kinetic and thermodynamic study of microwave-assisted transesterification of non-edible papaya oil. The experiments were performed using pre-optimized process parameters having 9:1 molar ratio of methanol to oil, 1 wt. Kinetic study of microwaveassisted palm oil methyl ester (POME) conversion was carried out by varying temperature from 50 to 65 ºC with an increment of 5 ºC. Kinetic study revealed that microwave-assisted homogeneous alkali-catalyzed transesterification follows first order having lower activation and thermodynamic study of microwave-assisted transesterification of papaya oil. in the microwave-assisted transesterification of papaya oil Vol. 31, No. 8 (2019) Kinetic and Thermodynamic Studies of Microwave-Assisted Transesterification of Papaya Oil 1691 Vol. 31, No. 8 (2019) Kinetic and Thermodynamic Studies of Microwave-Assisted Transesterification of Papaya Oil 1691 work_eswms2efinfuvd4pmzo5y3cl3y [PDF] Amish Burn Ointment and Burdock Leaf Dressings: Assessments of Antimicrobial and Cytotoxic Activities | Semantic Scholar Corpus ID: 3684792Amish Burn Ointment and Burdock Leaf Dressings: Assessments of Antimicrobial and Cytotoxic Activities title={Amish Burn Ointment and Burdock Leaf Dressings: Assessments of Antimicrobial and Cytotoxic Activities}, Amish burn wound ointment (ABO) contains honey, lanolin, oils, glycerin, bees wax, and other natural additives. Although there are many anecdotal reports that this ointment covered with a burdock leaf (BL) dressing promotes burn wound healing, little scientific testing of this treatment has occurred. Amish Culture and Their Utilization of Burns and Wounds Ointment for the Treatment of Burns. Cytotoxicity testing of topical antimicrobial agents on human keratinocytes and fibroblasts for cultured skin grafts. A laboratory method for selection of topical antimicrobial agents to treat infected burn wounds Policy, the Public, and Priorities in Alternative Medicine Research work_esz35qdybrfsdjetvhtjjekoae will entail presenting a comprehensive view of minority rights within liberal society. Liberal society''s traditional neutrality toward individual cultures, as captured At the second level, the liberal state has recently gained new ground. minorities." Kymlicka''s model of the liberal state integrates the immigrant groups while according special rights to aboriginal people. precisely, in one''s own cultural community, a social primary good. if we are to follow Kymlicka''s second step, we must also consider that particular cultural communities are social goods which, for particular conceptions particular cultural group represents a social primary good for its members. minority, is viewed as a social primary good, then 1) every cultural group is by restricting the rights and resources of non-aboriginal people" (Kymlicka, Kymlicka justifies the special status of the aboriginal population by appealing to the socio-economic inequality originating in the culture. Liberalism, Community, and Culture. Kymlicka, Liberalism and Respect for Cultural Minorities. work_evk5uowdmvfdhnwfmhyefc7ene Varicella Infection Complicated by Group A Beta-Hemolytic Streptococcal Retropharyngeal Abscess Varicella Infection Complicated by Group A Beta-Hemolytic An unimmunized 19-month-old child presented with a retropharyngeal abscess and coincident varicella infection. Practitioners should be aware that cervical abscesses may complicate varicella infections. Complications of varicella infections differ greatly in their region in association with varicella infection in pediatric As with most infections, varicella can be complicated by immune depression caused by the primary varicella infection The varicella infection seen in our patient may not have the primary varicella infection, the development of tonsillitis, This case is the first report of a retropharyngeal abscess occurring as a sequela of varicella infection in a pediatric patient. spinal epidural abscess during varicella," Pediatrics, vol. epidural abscess from group A Streptococcus after varicella M. Guthrie, "Abscess formation as a complication of chickenpox," Scottish Medical Journal, vol. Cappelletty, "Microbiology of bacterial respiratory infections," Pediatric Infectious Disease Journal, vol. work_evvtooqdnbfl5k3uaet64iwl3u By genotyping 362,129 SNPs in 4,300 Sardinians, we identified a strong association (p ¼ 1.3 3 10�11) between alleles of rs4704397 and circulating TSH levels; each additional In addition to association of TSH levels with SNPs in PDE8B, our genome scan provided evidence for association with Top SNPs Associated with TSH Levels from the GWA in SardiNIA For each marker, the �log10 of the p value resulting from an association test that evaluates its additive effect on the phenotype is plotted. (A) The top panel summarizes association between the SNPs and TSH levels in each individual (�log10 of the p value). SNP rs6885099 showed the strongest association with TSH levels in an initial analysis performed on a subset of Phosphodiesterase 8B Gene Variants Are Associated with Serum TSH Levels and Thyroid Function Association Analysis of Candidate Genes with TSH Levels work_exfoueomyvcn5iudhzjt47qubm We therefore investigated the association of fasting glucose levels with SNPs in 2 genomewide scans including a total of 5,088 nondiabetic individuals from Finland and Sardinia. independent associations from our fasting glucose GWA study are results in the combined FUSION/SardiNIA GWA for fasting glucose metaanalysis (Figure 1). allele for rs563694 was associated with small increases in fasting glucose (0.064 mM for SardiNIA and 0.051 mM for FUSION We also examined the association between rs563694 and fasting glucose in 6 follow-up samples (Table 2). (P = 8.2 × 10–8; Table 2), with fasting glucose concentrations increasing with each copy of the A allele in all studies. the results from all follow-up studies were combined in a metaanalysis of 24,046 samples, there was strong evidence for association between rs563694 and fasting glucose in both the follow-up Both FUSION and SardiNIA initially identified rs563694 as being associated with fasting glucose levels. Association between fasting glucose and genotypes in the FUSION work_f42m3gjrnffjtor2kmby3hfsge ''true'' cartilage-hair hypoplasia among non-Amish necks, under the name ''forme partielle de la dysostose metaphysaire''.'' Two cases had fine, sparse hair described two years later by McKusick as ''cartilagehair hypoplasia'' (CHH).2 However, our first three cases (a boy and his two sisters) had perfectly normal hair (fig 1), although their bone dysplasia was exactly bone dysplasia without any clinical hair involvement. Centre for Human Genetics, Liege University, Belgium. Figure 2 Case I at 8''/z years showing dark, thick hair. Figure 3 Case I at 8½12years showing slight metaphyseal severe deformation of the lower femoral metaphyses, A syndrome clinically distinctfrom McKusick cartilage-hair hypoplasia 695 Figure 6 Case 3 at 9years showing normal hair. and had normal hair (fig 6). bones of the hand were short and stubby (fig 8). Figure 8 Case 3 at 9years showing Figure 8 Case 3 at 9years showing McKusick cartilage-hair hypoplasia.3 The major work_f63rc2wk2jadfbwop3uagvd27m (TCF7L2) Gene Are Associated With Type 2 Diabetes in identified in Icelandic individuals that showed strong association with type 2 diabetes, which was replicated in Danish We compared genotype frequencies in subjects with type 2 diabetes with those with NGT also genotyped these SNPs in nondiabetic, non-Amish subjects (n � 48), in whom intravenous glucose tolerance tests Using this combined case group, we found that the genotype frequencies of rs7901695 and rs7903146 differed significantly between type 2 diabetic/IGT subjects and NGT and rs1196205 SNPs showed marginal differences in genotype frequency between the type 2 diabetes/IGT and NGT Allele frequencies and results of association analysis in Amish subjects with type 2 diabetes, IGT, and NGT* for SNPs in TCF7L2 assessment of insulin resistance by genotype in nondiabetic Amish subjects (n � 698) for each TCF7L2 SNP SNPs in TCF7L2 and the type 2 diabetes/IGT trait in the work_faqqesvpdnhvxm63tumovblmim Cardiac Myosin-Binding Protein C Gene Causes Severe homozygous splice site mutation in the MYBPC3 gene. block contained MYBPC3, a previously identified cardiomyopathy related gene. for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal One of most common genetic causes for hypertrophic cardiomyopathy involves mutations in cardiac myosin-binding protein C (MYBPC3) gene [Charron Homozygous mutation in the MYBPC3 gene causing severe affected individuals at the current time, the consequence of the mutation was determined using 1. Pedigrees of the three families used in the mapping study and mutational analysis of hypertrophic cardiomyopathy. mutation is associated with familial hypertrophic cardiomyopathy. cardiac myosin binding protein C gene (MYBPC3) and hypertrophic cardiomyopathy related to the cardiac myosinbinding protein C gene. cardiac myosin-binding protein C mutation carriers with the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and Mutations in the cardiac myosin binding protein-C gene on work_far3ufsaxbchxl4ownwi667o5u sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_fdrz3a3idvh4hnltbq6lvkmcwm bipolar or unipolar illness-that is, manic depression or disease and to study the interaction between genes and families of patients with bipolar illness that contain many Harvey-ras1 genes to bipolar disorder. linkage between bipolar disorder and markers on the X genes may predispose to bipolar disorder: one on the X linked bipolar illness and whether the chromosome 11 linkage relatives without bipolar disorder were scored as affected if probands whose depression followed life events or long term Three genes linked to bipolar affective disorder A Danish twin study of manic-depressive disorders. Is a gene for affective disorder located on the short arm of'' Bipolar affective disorders linked t(o DNA markers on linkage of C-Harsev-rasand the insulin gene to affective disorder is ruled out in three North Genetic linkage between X-chromosome markers and bipolar affective illness. they often have clinical evidence of the disease; in a few this work_fdsq5beb2fek7im5ilupqojshy has been a political theory professor, college and university president, and member of boards of trustees, and she learning from new evidence—an insistence especially difficult to accept for those of us who earn a living by teaching and persuading. correct in Kleinerman''s view, but is extraordinarily difficult for both leaders and their followers to live up to. Leaders face dilemmas, and our judgment of their leadership largely depends on how effectively they resolve (or "Democracy in Europe: The Impact of European Integration," she considers the tensions facing democratic European governments as they seek to enforce mandates of the the dilemmas facing international organizations seeking In his book review essay, George Thomas takes a rather "The Qualitative Foundations of Political Science: Moving beyond KKV," he reminds us of another mission of authors he reviews, provides more of the genuine information and insight that political scientists seek. dilemmas of being a book review editor. work_fetdaxcq4zefzjul47omq6lm2e sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219649908 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:36 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_fex7xu4clncvhfsn77zzlu2tmi EvC syndrome is an autosomal recessive disorder, involving postaxial polydactyly of the hands (see figure), short The mutation in the Amish of Lancaster County, Pennsylvania, in whom Amish mutation is supported by the longer known), who immigrated4 to Eastern Pennsylvania in 1744—thus demonstrating founder effect and a recessive A second recessive form of dwarfism, distinct from EvC, is prevalent in the Lancaster-County deme11. Ellis-van Creveld syndrome and the Amish that, when mutated, causes a form of dwarfism (Ellis-van Creveld syndrome) has been accelerated through a collaborative effort between geneticists and the Old Order Amish, of Lancaster County, Pennsylvania. of the Amish ''EvC'' mutation help? Because a specific EVC mutation is limited to the Lancaster County Amish, marriage between an EvC carrier The EvC syndrome in the Amish has 6. McKusick, V.A. in Medical Genetic Studies of the A supervised computerlearning method using support vector machines predicts gene function from expression data—and shows promise. work_ffabvo5cxbfevk6woubxxv23gu mapping of a disease gene is to initially a disease gene than does linkage. markers (1) to localize disease genes by impact on such association mapping studies. Isolated populations often are considered advantageous for association mapping (7) but some examples have been found in which the extent of linkage disequilibrium is the same in small isolated strong disequilibrium in small populations small, whether disequilibrium will be extensive around disease loci. versus distance, d, between loci on a haplotype. two clusters of haplotypes, one corresponding to low and one with high association. that disequilibrium and physical distance Sample data on linkage disequilibrium (r) and distance (d, in kb) between disease genes and nearby SNP markers Disease gene Population r d x12 shows the observed association values between disease and closest marker loci at of this small sample, it appears quite convincing that increasing population isolation is more or less correlated with increasing association. work_fge7mc74d5br7ldn2pmg2x6f7u sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_fgud6fnafvdn7d6kp6ln6d6ety sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219652113 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:38 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_fhmkzv6fbngvtdazuygeub53ze sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_fi2xmdf2ffh4baubyxyylh2gge sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_fioczjkrrzgldbvr5htxoo7yue series of linkage reports for manic depressive psychosis in suggested that the genetics of manic depressive psychosis disorders caused by mutations in a single gene, the situation can be bad enough; consider the difficulties in understanding the inheritance of fragile X syndrome [5,6], or the How complex is the genetics of manic depressive linkage and association studies is to ask what affected individuals have in common, genetically speaking. of manic depressive psychosis is that the disorder is not, at study inbred populations, or those where all affected individuals are genetically related (inhabitants of small islands If finding evidence of genetic susceptibility for manic depressive psychosis is complex, then alleles the genetics of manic depressive psychosis can be Candidate genetic linkages to mood disorders. linkage relationship between chromosome 11p loci and the gene locus for manic-depressive illness on chromosome 16p13. bipolar affective disorder on chromosome 4p. bipolar affective disorder on chromosome 4p. work_fisg5sftpbgltjouifx7q3z2vi Inquiry and Virtue: A PragmatistLiberal Argument for Civic Education Inquiry and Virtue: A Pragmatist-Liberal Argument a uniquely difficult position because, while they may possess deeply held commitments regarding the need for openness, courage, or respect in a good life, part political problem of how we might justify education for civic virtue in public I present two types of argument for liberal-democratic virtues, both of which I conclude by applying the general argument for liberaldemocratic virtue to the case of civic education and by addressing some objections. of Reason entails moral conduct and scientific inquiry. argue that liberal-democratic character is a necessary condition for good inquiry; Democratic virtues are conditions for the possibility of inquiry, not certain virtues central to the democratic character: good inquiry requires certain liberal-democratic virtues, and the need for good inquiry is inescapable. concludes that public reasoning, and the democratic virtues it requires, must be democrat to argue that virtues necessary for inquiry are not open to reasonable work_fjdgfuu6czcnlpuma5w3ermjta sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_fjw46u3kevhthb6hk2yplnb7vi sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219647474 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:33 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_fmy43mongjgkhgk3chuibknnui [PDF] Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels. Corpus ID: 18089339Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels. title={Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels.}, Lipoprotein (a) [Lp(a)] is an independent risk factor for atherosclerosis-related events that is under strong genetic control (heritability = 0.68-0.98). We performed a genome-wide association scan to identify genetic variants associated with Lp(a)-cholesterol levels in the Old Order Amish. Figures, Tables, and Topics from this paper Effect of Two Lipoprotein (a)-Associated Genetic Variants on Plasminogen Levels and Fibrinolysis View 10 excerpts, cites methods, results and background Genetic variants associated with Lp(a) lipoprotein level and coronary disease. European Journal of Human Genetics European Journal of Human Genetics European Journal of Human Genetics By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_fn5e4qmje5dl3aee3xrq2xtmym contributing to variation in BMD, we studied 570 women from large Amish families. of the total variation in BMD in pre-menopausal women mass and bone loss, we evaluated the genetic and environmental contributions to BMD in women before and genetic variation in pre-menopausal women is due primarily to genetic determinants of peak bone mass, while genetic variation in post-menopausal women is due to bone mass), but in addition a separate genetic contribution, albeit modest, to BMD in post-menopausal genetic effects in preand post-menopausal women allow the genetic variances in pre-menopausal and postmenopausal BMD to differ. genetic effect of BMD in post-menopausal women [31]. or suite of genes contributes to variance in BMD in preand post-menopausal women. variation in BMD in preand post-menopausal women, These results are probably related to the fact that variation in BMD in the post-menopausal group is influenced both by factors affecting peak bone mass and work_fnmoisn5zngbtbqtzclpaas3ei Sodium nitrite augments lung S-nitrosylation and reverses chronic hypoxic pulmonary hypertension in juvenile rats Sodium nitrite augments lung S-nitrosylation and reverses chronic hypoxic have previously reported that therapy with inhaled NO (iNO) increased peroxynitrite-mediated nitration in the juvenile rat lung, Animals then received rescue therapy with daily subcutaneous NaNO2 (20 mg/kg), vehicle, or were continuously exposed to iNO both prevented and reversed chronic hypoxic PHT and increased lung NO and SNO contents to a far greater extent than Rescue treatment with NaNO2 increased lung NOx, SNO Chronic exposure to hypoxia or treatment with NaNO2 had no effect on total lung Rescue sodium nitrite increased lung nitric oxide oxidation (NOx), S-nitrosylated (SNO) proteins, and cGMP-PKG activity, without increasing nitration. subcutaneous injections of sodium nitrite (NaNO2) 20 mg/kg or 0.9% saline vehicle or were continuously exposed to 20 ppm inhaled nitric oxide (iNO). B: total lung SNO proteins, n � 6 animals per group. work_fnmwuyf6ebeh3ljvwgkn6eqfte A quantitative analysis was performed, assessing the relationship between target motion, margin size, Methods: A computational algorithm was used to calculate 1,174 motion-encoded dose distributions and DVHs millimeters smaller than the maximum target displacement provided acceptable motion protection, while also allowing A number of techniques exist to minimize the effects of intrafraction motion, with the addition of a planning target volume These motion tracks corresponded to ''Max Displacement – Margin'' values ranging from −15 mm (15 mm Margin'' on target D95%, with the results from the amplitude, drift and offset studies shown separately in Figures 3a, Figure 3 The effect of varying the motion amplitude, drift and offset on ΔD95% are shown separately in a, b and c respectively, and sinusoidal motion track on target dosimetry for various margin sizes. Figure 3 demonstrates that the effect of motion on target dosimetry is dependent on the maximum sinusoidal work_fo366jaxsnektklonoagm3idpm Marcus ~ Special Publication, Contemporary Antisemitism in the United States – collection …Read More » The Legal Fight Against Antisemitism on Campus ~ Thursday, April 29 ~ with Kenneth L. Marcus on Law, Jew-hatred and Higher Education ~ Monday April 19th April 2, 2021The Academic Engagement Network Presents: Law, Jew-hatred, and Higher Education: A Conversation with Kenneth L. Marcus Monday, April 19, at …Read More » Join us on Thursday, April 8 ~ Combating Antisemitism & Anti-Zionism on Campuses with Alyza D. March 25, 2021LDB President, Alyza Lewin, joined Jewish community leaders Rabbi Abraham Cooper, Associate Dean of the Simon Wiesenthal Center, and Malcolm …Read More » In a major new initiative, LDB has formed a network of chapters for students at …Read More » Brandeis Center FAQs About Defining Anti-Semitism This fact sheet offers insight on the importance of defining anti-Semitism, highlights previous efforts to …Read More » work_foeq2b7k7ret3k2xlad6575miu the diabetes risk allele glycine of Gly54Asp was associated with MBL2, this gene was investigated as a potential susceptibility gene for type 2 diabetes in Pima Indians. genotyped in the sample of 3,501 full-heritage Pima Indians for association analysis with type 2 diabetes (Table 1). To determine whether variants in MBL2 had a significant effect on diabetes in non–Native American populations, rs1800450 and rs11003125 were genotyped in an pairwise LD pattern of these 101 SNPs and their association with early-onset type 2 diabetes in Pima subjects who Fig. 3), was not associated with type 2 diabetes in Pima Associations of MBL2 tag SNPs with type 2 diabetes in Pima Indians Association of promoter rs1103125 and rs1800450 (Gly54Asp) with type 2 diabetes in Pima Indian, Amish, and DIAGRAM subjects Ordering the genotypic groups according to their association with serum MBL levels showed that subjects homozygous for both G and glycine alleles had a higher prevalence work_fogwngjqyneslpna6o26yg3tie sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_foyos7yopfhm7j2tg7d5kybjza sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219639393 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:23 If you need further help, please send an email to PMC. Include the information from the box above in your message. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_frjmlko6ona5jpfn3lsaztuzua Molecular genetics of common diseases Number ofgene loci implicated in polygenic disease problem as an example; table II lists genes that may be associated on the genetic variance in plasma cholesterol concentration-the cosegregation does exist a causal role for the gene in the disease is amyloid protein gene might be found to predispose to the disease. recently provided a candidate locus on chromosome 5 for a gene that Another risk factor for coronary heart disease is plasma fibrinogen Genetic polymorphism and susceptibility to disease Common alleles (variants at a single locus) or polymorphisms genetic polymorphisms that contribute to the common polygenic susceptibility to disease occurs at the apo-E locus.''5 The presence of Further examples of such polymorphisms associated with predisposition to polygenic disease have now been described. disequilibrium at the same locus) that are associated with disease Iflinked genes confer susceptibility to a disease this Apolipoprotein B-gene DNA polymorphisms work_fs7edzuk5vh2pjk7u32b3gt3rm Aim This study aimed to evaluate the association between STK39 SNP rs35929607 and some cardiovascular risk factors in hypertension Results There is no significant association between STK39 rs35929607 and hypertension in current study. significant association in hypertensive patient compared with control group particularly in female gender. showed a significant higher result in age, BMI, FBS, total cholesterol, and STG, LDL-C and lower level in HDL-C. Conclusion The association between the SNP rs35929607ofSTK3 and hypertension was not significant in current study in Kerbala population Furthermore, only Allele A showed a significant association with hypertension in females group. The STK39 alleles in hypertension and control groups association between allele A of STK39 rs35929607 and hypertension group. in this study did not show a positive association with hypertension in the Chinese population. cover: whole-genome association study identifies STK39 as a hypertension Genome-wide association study of blood pressure and hypertension. STK39 polymorphisms and blood pressure: an association study in work_fslvmryqsvbtvnucglrnh2imwi Louis (WUSTL) in Missouri made a surprising discovery: The guts of obese mice and long-term establishment of a balanced microbial community in the human gut, eliminating bacteria there that could help ward off changes in gut microbes drive or contribute Baltimore who has studied gut bacteria and stomach cancers, is one of up to 1000 different microbes that call the human body home. Blaser will examine the gut microbiomes he''s cautious: "In a lot of cases, the microbiome in mice doesn''t translate into humans." A similar percentage of 36 obese French people had a comparable dearth of gut bacteria genes, Ehrlich found that the obese people with fewer gut bacteria genes were more likely microbiome and obesity, Fraser-Liggett and Although the scientists did detect some differences in certain bacteria between obese lean and obese mice, Fraser-Liggett reported to bacteria from human guts. in the guts of the mice, Gordon then feeds given human gut microbes work_ft45gqdkwfaz5o3lnh4nm4o4ry Effective Doping of Rare-earth Ions in Silica Gel: silica (SiO2) gels using a novel pressure-assisted sol-gel method. Our results pertaining to intense photoluminescence (PL) from gel nanospheres can be directly attributed to the high specific surface area and remarkable than the SiO2 gel made at atmospheric pressure and ∼50℃ using conventional Stöber-Fink-Bohn process. Joshi, Sonal Sahai and Virendra Shanker, "Effective Doping of Rare-earth Ions in Silica Gel: A Novel Approach to Design Active Electronic Devices", Nano-Micro Lett. In this paper, we propose a novel methodology to prepare alkoxide-based silica gel nanospheres doped with Fig. 2 X-ray diffraction (XRD) pattern of SiO2 gel powder at room temperature (∼25℃) indicating the amorphous Eu3+ doped SiO2 gel samples prepared at 50℃, 1 bar; Fig. 4 Absorbance spectra of Eu doped-SiO2 samples prepared at atmosphere pressure (1 bar) and 120 bars and Eu3+ doped SiO2 gel prepared at atmospheric pressure work_fumt4r5hevbcvidameubcxi444 Purpose: Image registration between standard x-ray fluoroscopy and transesophageal echocardiography (TEE) has recently been proposed. SBDX system to estimate the physical 3D coordinates of salient key-points on the TEE probe. evaluate the correspondence of catheter tip positions in TEE and x-ray images following registration Conclusions: Full 6 DOF image registration between SBDX and TEE is feasible and accurate to pose is obtained by performing tomosynthesis-based 3D localization of key-points on the probe. 3. Top row: Tomosynthesis images of a TEE probe head reconstructed at different planes relative to the SBDX source. relationship between the TEE probe model and the echo image volume to be Water tank phantom and in vivo experiments were conducted to evaluate two image fusion scenarios: echo-to-SBDX To evaluate the 3D TRE of SBDX-to-echo 3D image registration, first tomosynthesis-based 3D tracking of the catheter registration, tomosynthesis-based catheter tip tracking is registered to two planes of the echo image volume and displayed work_fxajdhp3ebcdtmeqztpet33mc4 POR2 in Mexican American subjects (N=439) and performed an association analysis of IRS-related traits. ADIPOR2 genes failed to find any association with type 2 genes on type 2 diabetes and the IRS in Mexican Americans, We performed association analysis in our complex pedigree-based data using the measured genotype approach SNP rs7539542 of ADIPOR1 was significantly associated with BMI, SS and WC (p=0.025, p=0.047 and Given our previous findings of common genetic influences on IRS-related phenotypes, including obesity, insulin present study we provide evidence that ADIPOR2 polymorphisms are strongly associated with decreased plasma Of the polymorphisms that we genotyped in the ADIPOR2 gene, our strongest association was Table 4 Significant associations between genetic polymorphisms in ADIPOQ, ADIPOR1 and ADIPOR2 genes and IRS-related phenotypes common genetic influences on IRS-related phenotypes (e.g. obesity, insulin resistance and fasting triglyceride) [10], we association of SNP rs929434 with fasting triglyceride ADIPOR1 SNPs and type 2 diabetes, insulin sensitivity or work_fz2vyajpgzcillgazr5tqppvem sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_fz2zsjjxznfuxibu7p75gigaxi dietary fiber supplementation on allergic asthma development in mice [29], and on wheeze in human infants animals can confer protection, is by inducing the generation of regulatory T cells (Tregs). pylori-mediated asthma protection, the Helicobacter infection inhibited TLR-induced DC maturation and reprogrammed the DCs towards a FoxP3+ Treg-polarizing virus (RSV) infection and second hand cigarette smoke, two known asthma risk factors, increase IL-33 secretion and may thereby stimulate this Exposure to endotoxin, farm dust or microbial colonization blunts the epithelial response by increasing the expression of negative phagocytic capacity of DCs. Some protective factors induce DCs that provoke regulatory T cell (Treg) activity or T helper 1 (Th1) activity. high endotoxin levels in children''s mattresses are protective against atopic sensitization and asthma in humans induced Th1 cells, and in vivo, they conferred protection against OVAinduced allergic asthma. Lambrecht BN: House dust mite allergen induces asthma via Microbes induce protective regulatory DCs and T cells work_fzrpauvhvnexhintldqhzusndm Multiomics and Systems Biology Are Needed to Unravel the Complex Origins of Chronic Disease concept paper, we discuss multiomic approaches to studying immune dysregulation and highlight and human studies, indicating these factors induce developmental programming of disease risk [16]. Very early identification of high-risk children before they develop chronic diseases is extremely choice for multiomic studies with protocols in development that allow immune profiling, genetics, tissue of choice for multiomic studies with protocols in development that allow immune profiling, metadata about the study subjects as this will be one of the major components of the multiomic data metadata about the study subjects as this will be one of the major components of the multiomic data nature of immune development, systems-level approaches are now needed to delineate trajectories term, we anticipate integrative omics and associated models of disease risk will enhance the research Utilizing Systems Biology Approaches for Very Early Prediction and Intervention for Immune-Mediated Diseases work_fzttx47e6vaw3jl4hq4fen4u5y of LONP1, Encoding Mitochondrial AAAþ Lon Protease In biochemical assays, pathogenic Lon proteins show substrate-specific defects in ATP-dependent proteolysis. When expressed recombinantly in cells, all altered Lon proteins localize to mitochondria. mtDNA-encoded subunit II of cytochrome c oxidase; and (3) reduced spare respiratory capacity, leading to impaired mitochondrial proteostasis and function. (D) Dense bilateral nuclear cataracts develop rapidly between 2 and 6 months of age in all CODAS-syndrome-affected Amish individuals. (G) Despite previous reports of developmental delay in children with CODAS syndrome, timely ophthalmologic and audiologic intervention appear to be critical developmental determinants; at age 5 years our oldest subject has a vocabulary of more than 100 words, HeLa cells, CODAS and wild-type Lon were expressed at Lon Protein Levels and mtDNA Copy Numbers in CODAS-Syndrome-Affected Probands Are Similar to Those of Their CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease work_g23t4hmtlnfqhaft5ewl53kk7e Ultrasensitive TSH assay and anti-Parkinsonian treatment with levodopa Table Ultrasensitive TSH assay and anti-Parkinsonian treatment with levodopa. Free T3, free T4 and ultrasenstiiveTSH levels in levodopa treated Parkinsonian patients compared with agematched controls, mean (SD). a normal clinical thyroid examination and patients treated with levodopa than controls low ultrasensitive TSH level, with normal basal TSH levels, measured by an ultrasensitive assay, in Parkinsonian patients treated with levodopa, were not found to be patient treated with levodopa had an ultrasensitive TSH level below the normal range. Furthermore, in patients treated with levodopa, ultrasensitiveTSH level was influenced as efficient a method to detect hyperthyroidism in patients treated with levodopa as in the 1 Verges B, Giroud M, Richard A, GiroudBaleydier F, Vaillant G, Lorcerie B, Brun JM, patients over the age of 60 years. and light touch sensation in a distal distribution and loss of vibration sense and proprioception up to and including the wrists. work_g2jzjvouqfdvtlu3wc2cymuqpi sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_g32anpmpt5c2flgpmniamxhagm sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219638364 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:22 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_g4l6obdoafg77mq5yey54k5fnq sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_g5xusz4xbngjldrdro4jh3dqey Genetic and functional evidence relates a missense variant in B4GALT1 to lower LDL-C and fibrinogen Genetic and functional evidence relates a missense variant in B4GALT1 to lower LDL-C We identified novel associations between an Amishenriched missense variant (p.Asn352Ser) in a functional domain of beta-1,4b4galt1 in zebrafish embryos resulted in significantly lower LDL-C compared to control, establish B4GALT1 as a novel gene associated with lower LDL-C and fibrinogen and genome-wide significant association between an Amish-enriched missense variant in the betaAssociation analyses identify B4GALT1 p.Asn352Ser as a novel LDL-C variant To identify genetic variants associated with LDL-C, we performed an exome-wide (rs551564683, p.Asn352Ser) in B4GALT1 was strongly associated with 13.5 mg/dl lower LDL-C Association with other traits and B4GALT1 human knockout support a functional role of The p.Asn352Ser B4GALT1 missense variant that we identified in the Amish does not Fig. 3: B4GALT1 p.Asn352Ser is associated with decreased glycosylation. work_g7ebym5y2nb5bjeiu3l77rouiu sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_gbbzwaf5ljedvhlm3alxa6u5ou Imatinib (STI571, Glivec©) is a new selective tyrosine report generalized hypopigmentation with the use of The majority of CML and GIST patients on imatinib Over 120 patients of CML or GIST are being treated one year, during routine outdoor visits, many patients melanin pigmentation was not possible. tyrosinase assay on the skin biopsies performed preand post-imatinib treatment for quantification of the alteration in the respective tyrosine kinases.[4] Tsao et that inhibition of melanocyte c-KIT receptor tyrosine kinase by imatinib leads to generalized mesylate causes hypopigmentation in the skin. allergic skin reactions are rare.[3-6] The most serious sideeffect related to amiodarone is pulmonary alveolitis clinical history of nasal polyps, chronic rhinitis, sinusitis, drug had been started by a general practitioner 3 years Skin patch tests with common of the patient''s previous history, the diagnosis of amiodarone-induced angioedema was considered. Amiodarone was discontinued, and the symptoms amiodarone was the cause of the patient''s reaction, a work_gcmlstubzjfezetymnv6biebay sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219648262 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:34 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_gctsgoci5ras7cfi4eb5mxukoi lipoprotein metabolism was later expanded by studies in perfused rat livers demonstrating that apo CIII inhibits uptake of that absence of apo CIII resulted in a dramatic increase in lipolysis of VLDL (very-low-density lipoprotein)-TG.7 Studies © 2018 American Heart Association, Inc. Objective—Apo (apolipoprotein) CIII inhibits lipoprotein lipase (LpL)-mediated lipolysis of VLDL (very-low-density rates of VLDL-TG and apoB100 in VLDL, IDL (intermediate-density lipoprotein), LDL, apo CIII, and apo CII were IDL-, and LDL-apoB100 and plasma amino acids, and 1 tracer, glycerol, in VLDL-TG) is chosen for the final model. effects of reduced apo CIII levels on the partitioning of VLDLapoB100 flux between conversion of VLDL to LDL and direct These data indicate that, in individuals heterozygous for loss of function of APOC3, who have normal levels of lipoprotein lipase, reduced levels of apo CIII in plasma significantly affect the lipolytic but not the hepatic uptake pathways for metabolism of VLDL. work_gcxruwqvwfhytddhpxc6vmdryy High-speed data-processing equipment has opened the door to cross-cultural study of linguistic development using word associations of children from different social classes and different cultural groups. paper reports subcultural variations in language development for children from 4 to 10 years of age, and speculates upon the socialization This research, which began in 1961, was undertaken partly to provide normative word association data for sizeable groups of young children, and partly to shed light on the course of linguistic development. The Amish, a distinct subcultural group who develop in a considerably different cultural stream from rural Maryland children, reside on farms north of the Maryland-Pennsylvania line (see Fig. 1). ''though the children are of the same age and the same tested intelligence, and are closely matched in terms of schools attended, father''s The relative advancement of suburban thirdand fifth-graders compared to inner city children could be owing, at least in part, to differences in school quality. work_gdaxyv4qejhy3l7nfgdumzlvfy Background: Cholesterol transporter NPC1L1 is expressed in small intestine but not in colon. Results: DNA in the mouse NPC1L1 gene is hypermethylated in colon as compared with small intestine. Conclusion: DNA hypermethylation may be responsible for silencing NPC1L1 expression in the colon. Significance: Altering DNA methylation may represent a novel mechanism to modulate NPC1L1 expression and cholesterol that DNA methylation in the promoter region of the NPC1L1 gene These observations indicated that DNA methylation might play a role in suppressing the colonic expression of genes that are usually DNA methylation in suppressing the expression of NPC1L1 DNA methylation of mouse NPC1L1 promoter in the small intestine and colon. To further investigate the effect of inhibiting DNA methylation on NPC1L1 expression in HuTu-80 cells, we attenuated Epigenetic Modulation of Intestinal Cholesterol Transporter Niemann-Pick C1-like 1 (NPC1L1) Gene Expression by DNA Methylation* Epigenetic Modulation of Intestinal Cholesterol Transporter Niemann-Pick C1-like 1 (NPC1L1) Gene Expression by DNA Methylation* work_gdfzwjvb25gtpa2dwwf7mqm7ay www.mdpi.com/journal/humanities publisher, we launched the journal Sustainability [1]. This will be an international open access journal, publishing scholarly papers of high quality As a publisher, I would like to publish journals surrounding the topics of sustainability and I believe the humanities as a discipline of academic studies are very important. Machines are more and more like human individuals consuming resources themselves (we are weights (for material) or bits (information); these characteristics of human beings as an intelligent Probably what is most important to the sustainability of human beings is virtues (heroism, altruism, on resource exploitation, humanities studies and practice themselves may not necessarily need any Humanities study and practice do not very sustainability of human tradition and identity. now ideal to publish the journal Humanities in open access format. 1. Sustainability journal homepage: http://www.mdpi.com/journal/sustainabilities/. 2. Societies journal homepage: http://www.mdpi.com/journal/societies/. 3. Religions journal homepage: http://www.mdpi.com/journal/religions/. 4. Administrative Sciences journal homepage: http://www.mdpi.com/journal/admsci/. 5. Behavioral Sciences journal homepage: http://www.mdpi.com/journal/behavsci/. work_gdtdtq7ggre7jcsxoru73qy7gi CAGR1 is a recently characterised polymorphic trinucleotide repeat localised to 13qI3, which has been suggested as a possible candidate gene for neurological disorders that manifest genetic anticipation. CAGR1 repeat number of 50 was identified (normal range 9-29). CAG alleles and meiotic instability of Keywords: CAGRI; trinucleotide repeat; meiotic instability screening a human retinal cDNA library, identified a highly polymorphic CAG repeat (called brain (cerebellum), and their subsequent identification of a single allele with 46 repeats in a candidate gene for molecularly uncharacterised inherited neurodegenerative, neuropsychiatric, or neurodevelopmental disorders. inheritance ofCAGR1 repeats in the normal range through 14 meioses in t 928 chromosomes were studied for the determination of CAGRI repeat number. of CAG repeat lengths in the normal range (fig Meiotic instability associated with the CAGRI trinucleotide repeat at 13q13 CAG repeats in schizophrenia and bipolar disorder. Novel triplet repeat containing genes in human brain: location and analysis of a highly polymorphic (CAG)n trinucleotide repeat. work_geqvxhm5uffmrofgb3uznxuhfq near CASQ1 contributed to type 2 diabetes susceptibility in Northern European Caucasians by identifying AFDS, Amish Family Diabetes Study; CASQ, calsquestrin; LD, linkage tested each SNP for an association with type 2 diabetes. The results when all available Utah samples were tested, including additional case and control subjects, are shown in We typed SNP CASQ 2312 (rs617698), which was associated with type 2 diabetes in the case-control study, in the we did not observe a much stronger association of predicted haplotypes than of individual SNPs. Additional support for CASQ1 as a candidate comes that those SNPs associated with type 2 diabetes also the association of SNPs in this region with type 2 diabetes (CASQ1) gene on chromosome 1q21 is associated with type 2 diabetes in CASQ1 IS ASSOCIATED WITH TYPE 2 DIABETES CASQ1 IS ASSOCIATED WITH TYPE 2 DIABETES CASQ1 IS ASSOCIATED WITH TYPE 2 DIABETES work_gfymbvwtibda5cchl3g5n35yie From the Department of Pediatrics, BJ Wadia Hospital for Children, Parel, Mumbai. Pseudohypoparathyroidism due to deficient end organ response to parathyroid hormone (PTH) is characterized by hypocalcemia, hyperphosphatemia and increased serum PTH. report a case of an 8-year-old girl with pseudohypoparathyroidism without features of Key words: Albright''s hereditary osteodystrophy, Hypothyroidism, Parathyroid hormone, PHP without features of AHO who developed Resistance to other hormones (which function via reported rarely [4,5] PHP type 2 does not present with maintain serum calcium levels within the reference range features of AHO, as hypothyroidism develops rarely, as causing hormone resistance. hormones in patients with pseudohypoparathyroidism. We report an 11 year old boy with IgA nephropathy developing chronic myeloid leukemia on and leukemia has been reported rarely in children [2]. Here we report a child with IgA nephropathy developing ratio 0.75), mild renal insufficiency (serum creatinine 1.1 mg/dL), and normal serum albumin and cholesterol. work_gg7tymewnvc4nbetxlzb73uypm use of paracetamol for PDA closure in preterm infants with myography was performed to study ductus tone and examine drug-induced changes in lumen diameter (d). isolated mouse ductus at term gestation, with complete closure of the vessel lumen at the highest concentrations studied Paracetamol also caused significant concentration-dependent constriction of the term ductus. did not have an ex vivo constricting effect on the preterm ductus, and vessels treated with paracetamol had insignificant In conclusion, the routine use of paracetamol for PDA closure in preterm infants cannot be recommended until randomized controlled trials of its efficacy are completed. of human ductus tissues, the response of the ex vivo term and preterm mouse DA to indomethacin and paracetamol was examined. Efficacy of paracetamol on patent ductus arteriosus closure may be dose dependent: evidence from human and murine studies Efficacy of paracetamol on patent ductus arteriosus closure may be dose dependent: evidence from human and murine studies work_ggwlzap76jhgpg5fvdgxhq5okm This study primarily aimed to assess seasonal changes in daily light exposure among the We investigated daily patterns of activity and ambulatory light exposure across seasons in subjects activity/light exposure relative to wake time or onset of sleep, by referencing the actimetry-defined We also calculated each individual''s daily activity/light exposure totals and average values across Mean ± SEM daily pattern of photopic light exposure in 33 OOA subjects during winter/spring or pre-dawn (D), daytime (E) and post-dusk (F) total light exposure (lux*min) as a function of difference Photoperiod-related differences in photopic light exposure in the Old Order Amish. Photoperiod-related differences in photopic light exposure in the Old Order Amish. SEM daily pattern of photopic light exposure in 33 OOA subjects during winter/spring or spring/summer. daytime (E) and post-dusk (F) total light exposure (lux*min) as a function of difference in photoperiod investigation of seasonal patterns of light exposure in human subjects [48]. work_ghjwb3wrkrfr3ddzqf3qytyeri RESEARCH DESIGN AND METHODS—We conducted a series of genetic analyses, including genome-wide and fine-mapping linkage studies, based on insulin levels measured during an oral glucose tolerance test (OGTT) in 552 nondiabetic participants in the Amish Family Diabetes Study. Fine-mapping study further refined our signal for insulin 30 on chromosome 15 (LOD 2.38 at 68 cM). CONCLUSIONS—These results suggest that there may be different genes influencing variation in OGTT measures of insulin Several studies have investigated the genetic epidemiology of fasting insulin levels and OGTT-derived indices traits may share common genetic influence, and performed genome-wide and fine-mapping linkage analyses of genetic influences underlying these OGTT-derived measures of insulin secretion and resistance. genome scan provides evidence of linkage on chromosomes 2p and 15q to measures of insulin secretion. genetic correlations were observed between fasting insulin and HOMA-IR, suggesting that these two measures LOD scores �1.18 (P � 0.01) for each insulin-related trait from multipoint linkage analyses work_gigjzrqgcng45ike54rkflikbe report the Anabaptist Genome Reference Panel (AGRP), the first whole-genome catalogue of variants Previous studies in population isolates have successfully identified genes and variants associated with Mendelian5 and complex traits4, 6. Anabaptists represent a genetic isolate comprising several groups, including Amish and Mennonites, whose Since whole genome sequencing (WGS) is still expensive in large samples, many study designs rely on genotype imputation of unsequenced individuals. population-specific imputation reference panel drawn from people of Anabaptist ancestry. population structure and allele frequency spectra represented by the AGRP and estimate the impact of this reference panel on the imputation accuracy of variants across the full range of allele frequencies. The merged AGRP and 1000G reference panel provided the highest imputation accuracy across all allele To investigate one measure of genetic diversity, we compared the total length of the genome shared homozygous by descent (HBD) among individuals within the AGRP to that shared between AGRP and Europeans in work_giwlvm66nrcu7m5jggp4o7d3k4 Clopidogrel Improves Skin Microcirculatory Endothelial Function in Persons With Heightened Platelet Aggregation Methods and Results-—Microcirculatory endothelial function was quantified by laser Doppler flowmetry (LDF) mediated by thermal LDF and platelet aggregation measures were obtained at baseline and after 7 days of clopidogrel administration. percentage change in TH-LDF in participants with high versus low baseline platelet aggregation (39.4�10.1% versus 17.4�5.6%, Clopidogrel also increased absolute TH-LDF measures in persons with high platelet aggregation (1757�766 to Conclusions-—The administration of clopidogrel in healthy persons with high baseline platelet aggregation results in improved THinduced microcirculatory endothelial function. Key Words: clopidogrel • endothelial function • platelet aggregation • women endothelial function and platelet aggregation measures were association was observed between conventional cardiovascular disease risk factors and preclopidogrel PORH-LDF measures, except for sex (Table 5). composite platelet aggregation or conventional cardiovascular risk factors and percentage change in PORH-LDF work_gkioyj6skza5xewuzrfg5id32u sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219641407 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:25 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_gkjotcgtgfcujhhppkd66azfkm Mathematics for Physicists, 1996, 384 pages, Philippe Dennery, Andrzej Krzywicki, DOWNLOAD http://bit.ly/1ZuJm2u http://en.wikipedia.org/w/index.php?search=Mathematics+for+Physicists Mathematical Methods For Physicists International Student Edition , George B. Modern Mathematical Methods for Physicists and Engineers , C. Mathematical physics, 703 pages. Mathematics for physics and physicists , Walter Appel, Feb 12, 2007, Science, 642 pages. The Functions of Mathematical Physics , Harry Hochstadt, 1986, Science, 322 pages. Methods of Mathematical Physics, Volume 1 , Richard Courant, David Hilbert, 1966, , 561 pages. Elementary Functional Analysis , GeorgГj EvgenevГtsj ShГlov, 1974, Mathematics, 334 pages. Loup Garron was born and raised Mathematics for Physicists 384 pages The Crisis, Complete http://www.amazon.com/s/?url=search-alias=stripbooks&field-keywords=Mathematics+for+Physicists Mathematics for Physicists 384 pages http://en.wikipedia.org/w/index.php?search=Mathematics+for+Physicists http://en.wikipedia.org/w/index.php?search=Mathematics+for+Physicists http://en.wikipedia.org/w/index.php?search=Mathematics+for+Physicists https://itunes.apple.com/us/book/Mathematics-for-Physicists/id413666860 http://www.barnesandnoble.com/s/?store=book&keyword=Mathematics+for+Physicists http://www.barnesandnoble.com/s/?store=book&keyword=Mathematics+for+Physicists assumptions underlying the Treasury''s fiscal download Mathematics for Physicists 384 pages Planning and Urban Change , Stephen Victor Ward, Mar 8, 2004, Science, 312 pages. Iraq, 7-7., Ted Honderich, Jul 10, 2006, Political Science, 206 pages. Social Science, 216 pages. http://ivecuk.files.wordpress.com/2014/08/mathematics-for-physicists.pdf work_gl4s6ccygzcrjpyuug63ldmbty sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219633024 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:15 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_glagbogx2vdtdcnq47xv2xkcdq Genome-wide scans for heritability of fasting serum insulin Methods: We calculated the familial aggregation of fasting serum glucose and insulin concentrations and performed A genome-wide scan for fasting serum glucose revealed a maximum LOD score of 2.07 on chromosome 5 at interpretation: These analyses demonstrate the marked heritability of fasting serum insulin and glucose concentrations 0.46 for fasting serum insulin concentrations [7] were reported in the Framingham Offspring Study. We performed maximum likelihood variance component linkage analysis of fasting serum glucose Statistical analysis The distributions of fasting serum insulin and glucose concentrations were positively skewed. A bivariate genome-wide scan for loci contributing to both fasting serum glucose and insulin concentrations in both races demonstrated eight regions with fasting serum insulin and glucose concentrations in nondiabetic members of multiplex hypertensive families. genetic linkage to fasting serum insulin concentrations and Genome-wide scans for heritability of fasting serum insulin and glucose concentrations in hypertensive families work_gltjsmuqpfeypm6xwdzmj5zty4 differentiated hPSC-CFs exhibit cell morphology, growth, gene expression, fibroblast markers, ECM production, and myofibroblast transformation similar to native human CFs. Results transcription factors ISL1, NKX2-5, and TBX5 indicating commitment of cardiac progenitors in the GiWi protocol (Fig. 1c). These stage-specific progenitors were reproducibly generated from other hPSC lines using the GiWi protocol (Supplementary Fig. 2). fibroblast antibody labeled cells from hPSC-CFs, hfV-CFs, haVCFs, and hDFs populations also uniformly expressed vimentin, d Flow cytometry analysis of cells throughout the GiFGF protocol for expression of the fibroblast marker (anti-human fibroblasts, e Schematic method of the GiFGF protocol and stage-specific progenitors in differentiation of hPSCs to CFs. Gray lines indicate RPMI medium again demonstrated hPSC-CFs and haV-CFs were the most closely related cell populations studied (Fig. 7c). Functional cardiac fibroblasts derived from human pluripotent stem cells via second heart field progenitors Functional cardiac fibroblasts derived from human pluripotent stem cells via second heart field progenitors work_gm45bzqlejgzjb7ctdiibb3pw4 Mitochondrial Uptake of Thiamin Pyrophosphate: Physiological and Cell Biological Aspects study using custom-made 3H-TPP as a substrate and mitochondria isolated from mouse liver and human-derived liver H-TPP uptake by mouse liver mitochondria to be pH-independent, saturable MTPPT protein was expressed in mouse liver and HepG2 cells, and confocal images showed a human (h)MTPPT-GFP construct to be targeted to mitochondria of HepG2 cells. revealed that all three modules of hMTPPT protein cooperated (although at different levels of efficiency) in mitochondrial and G177A) showed proper mitochondrial targeting but displayed significant inhibition in 3H-TPP uptake and a decrease in Citation: Subramanian VS, Nabokina SM, Lin-Moshier Y, Marchant JS, Said HM (2013) Mitochondrial Uptake of Thiamin Pyrophosphate: Physiological and Cell However, nothing is known specifically about the mitochondrial targeting determinants of the hMTPPT transporter and isolated mouse liver or HepG2 cells mitochondria (100 mg) and specific anti-MTPPT polyclonal antibodies as described in ''''Methods''''. TPP uptake into mitochondria in stable HepG2 cell lines. work_gm5whfw7nbeclkucq66aismsba sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219631592 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:14 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_gmduwt6l2fcb5oncihlxojrtpi (2005)�s hypothesis that the baby boom was partly due to a burst of productivity in the household sector is not supported by evidence. Keywords: Amish, appliances, baby boom, Bailey and Collins, fertility, model First, they report results of regressions showing that appliance ownership is negatively correlated with measures of fertility. argue that the Amish, who limit the use of modern technology, had a baby BC�s strategy is to regress fertility on adoption rates, controlling for income the GSV theory of the baby boom implies a positive coe¢ cient of adoption on the GSV model implies a positive relationship between fertility and adoption in time of adoption there is a jump in fertility because the new technology reduces For each individual generate the following data points for fertility, adoption Note that adoption, aij, fertility, nij, and income, yij, are all simultaneously that individuals who adopted the time-saving technology have higher fertility work_gmgztm66bjdz5d2i22zluertzm EDITOR,—The report of Byler''s syndrome with raised sweat electrolytes in an Irish traveller kindred1 interests us, as we have children without Byler''s disease whom we attend, pancreatic disease after liver transplantation is not usual.Have aVected traveller the sister and brother with progressive familial intrahepatic cholestasis and raised sweat granular bile like that seen in Byler''s disease interest in our paper describing an Irish kindred with Byler syndrome.1 As yet, we have intrahepatic cholestasis and chronic pancreatitis at another institution (patient of E Roberts and R Superina, Hospital For Sick Children, Toronto). Genetic and morphologic findings in progressive familial intrahepatic cholestasis (Byler disFigure 1 Pedigree of family with Byler disease-like progressive familial intrahepatic cholestasis children with Byler''s disease,5 within canaliculus of liver obtained at hepatectomy in aVected boy Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, Familial progressive intrahepatic cholestasis (Byler Cystic fibrosis associated with neuronal work_gnfj3xckrrcyhda6qgabfsjcbu (ACGS) best practice guidelines for variant interpretation.4 Common to all guidelines is the recommendation of the use of in silico prediction tools Clinical dataset (n=1757, see figure 1B and online supplementary table S1) more accurately reflects variants that might require Table 1 Results of variant classification for individual tool, and two consensusbased combinations, for the (A) open (n=8480) and (B) clinical author benchmarking,12–14 the metapredictors REVEL, ClinPred and GAVIN were highly proficient at classifying the variants in the open dataset, achieving sensitivities of 0.87, 0.90 Figure 3 Violin plot showing variant scores for SIFT, PolyPhen-2, REVEL and ClinPred using two datasets. Within the clinically relevant dataset, the tools are either falsely concordant or discordant for ~15% of pathogenic variants but ~78% of benign Assessing performance of pathogenicity predictors using clinically relevant variant datasets Assessing performance of pathogenicity predictors using clinically relevant variant datasets work_gpcf4nnd7jfabgh3brn4ysjnfq families ascertained for type 2 diabetes, individually yielding linkage results that were largely nonoverlapping. and, together with the results of this meta-analysis, provide compelling evidence that these regions harbor important determinants of lipid levels in individuals with type 2 population (10) and for triglyceride/HDL levels in Caucasian families from the GENNID Study (3). families ascertained for type 2 diabetes and lack of statistically significant evidence for linkage can result from both Genome Scan Meta-Analysis; HKFDS, Hong Kong Family Diabetes Study; meta-analysis of linkage results for quantitative lipid traits We performed a meta-analysis for the following quantitative lipid traits: LDL (seven studies), HDL (nine The strongest evidence of linkage for lipid traits identified in this study was found on chromosomes 7 and 19. A statistically significant P value identified in this meta-analysis, combined with multiple observations of linkage in unrelated studies, supports the traits in familial type 2 diabetes: evidence for linkage of triglyceride levels work_gpvpq3f5hnenzlbmznoelkycsa In a mouse line with the entire cardiac TnI gene deleted, a partial destruction of the slow TnT gene promoter produces a knockdown effect. The double transgenic mice exhibited decreased expression of slow TnT mRNA and protein in adult diaphragm muscle. As a consequence of slow TnT deficiency, the sTnT-KD diaphragm muscle contained a higher proportion of fast TnT, decreased slow TnI and binds the N-terminal domain of TnI independently of Ca2þ. TnH, and transmitted to the C-lobe of F1, resulting in a change in the interaction of the TnI inhibitory domain and actin. Decreased Fatigue Tolerance In Diaphragm Muscle Of Slow Troponin T Knockdown Mice Tracking of Qdot Conjugated Titin Antibodies in Single Myofibril Stretch Experiments Reveals Ig-domain Unfolding at Physiological Sarcomere Lengths Constitutive Phosphorylation of Cardiac Myosin Binding Protein-C Increases the Probability of Myosin Cross-bridge Interaction with Actin Obscurin Interacts with a Novel Isoform of Myosin Binding Protein C-Slow to Regulate the Assembly of Thick Filaments work_gs2gvysgvvfdbcznyzllri2yye Purpose: A previous genome-wide study in Orthodox Ashkenazi Jewish pedigrees showed significant linkage of ocular Orthodox Ashkenazi Jewish (ASHK) and Old Order Amish (OOA) families to confirm linkage and narrow the candidate Multipoint variance components (VC) and regression-based (REG) linkage analyses were carried out separately in OOA Results: Evidence of linkage of refractive error was found in both OOA (VC LOD=3.45, REG LOD=3.38 at ~59 cM) Conclusion: In a fine-mapping linkage study of OOA and ASHK families, we have confirmed linkage of refractive error Finally, genetic linkage studies generally lack the statistical The first genetic linkage studies of refractive phenotypes findings in a fine-mapping linkage study in OOA families, and families were selected for linkage studies of myopia and thus linkage analyses for ASHK and OOA families are presented In a genomewide linkage study of ASHK Jewish families, variations of refractive error in both OOA and ASHK families. work_gt3edidxvjcqznlumiruzhxjb4 Insulin Resistance Exacerbates Genetic Predisposition to Nonalcoholic Fatty Liver Disease in Individuals Without Diabetes 59 Keywords: gene-environment interactions, PNPLA3, hepatic steatosis, metabolic factors, 198 interacted with insulin, insulin resistance, BMI, glucose, and TG to increase hepatic steatosis in 242 modifiable metabolic traits interact with genetic variation to influence risk for hepatic steatosis is 246 genetic variants previously associated with hepatic steatosis(9) to affect liver attenuation (LA), a 375 insulin to the models and its interaction with PNPLA3-rs738409 and the metabolic trait (either 469 These results suggest that insulin may account for most of the interaction effect of BMI, glucose, 479 Interaction effect of insulin with PNPLA3 on hepatic steatosis prevalence in FamHS 480 We also assessed the interaction effect of insulin with PNPLA3-rs738409 on hepatic steatosis 480 We also assessed the interaction effect of insulin with PNPLA3-rs738409 on hepatic steatosis 554 insulin levels and PNPLA3-rs738409-G on hepatic steatosis in different populations. work_gte3mifwqrejdnu3qrrkb5xde4 practices and productivity of Amish farmers in a comparative framework, focusing particularly on Amish settlements around Kalona, Iowa, farmers of today to be less productive than their non-Amish neighbors current agricultural practices and farm technology among the Amish. On Amish farms, the labor input of family members was higher.13 Amish farmers might also have had greater access to nonhousehold labor within the religious network because of their wellknown cooperation in farming operations. To understand why Amish farmers were less productive, we must first why Amish farmers were less productive, the relationship between listed in the agriculture schedules, Amish farmers produced an average The average number of items produced by the Amish farmers was thus suggests that Amish farmers overinvested in their farming operations, AVERAGE SIZE OF LAND AND VALUES OF FARMING ASSETS, AMISH The average size of land and the total value of the assets of Amish farmers work_gtiev4ot2bagrjev4ycwrcxlhe sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219644576 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:29 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_gtjtuksqxvhelgtzrkw2lkyr2a Currently mutations in at least 27 different genes have been reported to cause a congenital In addition to the "classical" forms of NM, recessive diseasecausing variants in NEB may cause distal nebulin myopathy In TPM2 only 1 recessive homozygous nonsense mutation has been described, causing Escobar syndrome associated patients with mild NM.25 Interestingly, dominant MYPN mutations have been reported to cause dilated, familial hypertrophic cardiac muscle are caused by dominant or recessive mutations in TTN.8 Most of these disorders have adult onset. 4 patients had a congenital myopathy with ophthalmoplegia.134 A novel homozygous frameshift mutation in MYH2 Pelin K, Hilpela P, Donner K, et al: Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. caused by mutations in the nebulin gene may present as a distal myopathy. cell gene MEGF10 cause a recessive congenital myopathy with minicores. gene mutation causing both cores and rods in congenital myopathy. Other Genes Causing Congenital Myopathies work_gukk34cj2ba2hfeeqnbcodfs6m We describe 36 different mutations in this gene in 91 Finnish and 44 non-Finnish CHH families. mutation in CHH patients was a base substitution G for A at nucleotide 70. 92% of the mutations in the Finnish CHH patients. maximum likelihood estimates with close markers, genealogical studies, and haplotype data suggested Keywords: RMRP; mutation; ancestral haplotype; age estimation; untranslated gene; cartilage-hair hypoplasia In this study, we describe the results of genetic and mutation analyses of RMRP in Finnish cartilage-hair hypoplasia Haplotypes of the Finnish CHH families were reconstructed assuming a minimum number of recombinations Table 1 RMRP mutations in Finnish and foreign CHH patients has been found in 78 – 98% of the Finnish disease chromosomes.30 – 34 The age of these major mutations in Finland mutation (48%) among the CHH patients in 44 families RMRP mutations segregate with specific haplotypes in the Finnish population work_gvvyajofufglhls6u6yhxgyyge 11p15.5 region, which is associated with Beckwith-Wiedemann syndrome and Wilms tumor, and the 15q11ABCR mutations lead to a clinically heterogeneous array of phenotypes, including Stargardt further evidence that sequence variation in ABCR is associated with age-related macular degeneration. TNNT1 Gene Mutation in Nemaline Myopathy, by Linkage Disequilibrium in the NF1 Gene Region, by a major impact on genetic-association studies, a greater recombination is associated with a change in the general APOE Haplotype Variation, by Fullerton et al. Individuals possessing an e4 allele have an increased risk of both diseases, whereas e2 is protective. More-complete examination of the alleles of APOE has to study further variation of APOE. population-specific distribution of APOE haplotypes. variation at the APOE locus. mutation that is present in the e2 and e3 alleles. Because LD measurements in different populations and different genetic regions have in genomewide association studies, and they will also Report (Mutational Hotspots in mtDNA), by Stoneking work_gyfcgeq7dbdlnkxnrwnv6t4wdq sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219635308 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:18 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_h2f3gjesi5ez5lx7vrtdgzilve sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219632019 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:14 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_h6byho6kanhr5mbtlyzlwtoky4 sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219633092 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:15 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_h77onygxxfbgrha3b46abfk2ce in syndromes of insulin resistance and association studies for type 2 diabetes and metabolic traits in UK populations associated with circulating levels of adiponectin, insulin genes in syndromes of severe insulin resistance, type 2 were tested for association with type 2 diabetes in population-based type 2 diabetes case–control studies insulin resistance, type 2 diabetes, and adiponectin levels increased insulin resistance and type 2 diabetes. associations between polymorphisms in adiponectin receptor genes and risk of type 2 diabetes were detected diabetes and insulin resistance in UK Europid populations. gene are not associated with type 2 diabetes risk in Europid evidence of association between ADIPOR2 SNPs and type genetic variants (n=24) did not find evidence for association of these genes with type 2 diabetes risk (n=2,127) or (ADIPOR1) as a candidate for type 2 diabetes and insulin adiponectin receptors and type 2 diabetes. association study in type 2 diabetes indicates a role for genes work_h7hrq4syzrcvnkuobbn6j6isri Association of OCT-Derived Drusen Measurements with AMD-Associated Genotypic SNPs in the Amish Population (OCT)-derived drusen measures in Amish age-related macular degeneration (AMD) patients risk for the AMD-associated SNPs in the SYN3, LIPC, ARMS2, C3, CFB, CETP, CFI and significant association between AMD and macular drusen with the number of CFH risk Keyword: age-related macular degeneration; AMD; Older Order Amish; CFH; SYN3; automated drusen detection system for classifying age-related macular degeneration (AMD) from color § Adjusted by age, gender and smoking status; * From univariate analysis (without adjustment by any other risk factors of age-related macular degeneration (AMD)) for testing whether OCT measures were associated with the number of risk alleles; † From multivariate analysis (with adjustment by age, gender and smoking status) for testing Significant association of drusen progression with CFH has been reported in Age-Related Eye complement factor H (CFH) gene: Associations with drusen and advanced age-related macular work_ha7fva4uwjc5nds2cqxsoqhjnm sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_hdcejiwrbrcznf4wrh6wbexvma sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219638143 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:21 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_hebffcbkf5aatmvxp2nfzopi3q Chronic Myeloid Leukemia in a Child with IgA Nephropathy We report an 11 year old boy with IgA nephropathy developing chronic myeloid leukemia on This association suggests that a B cell defect might be involved in the Key words: Chronic myeloid leukemia, IgA nephropathy. Here we report a child with IgA nephropathy developing ratio 0.75), mild renal insufficiency (serum creatinine 1.1 Urinalysis showed 2+ albumin, red blood cells The blood pressure was 130/80 mm Hg. Investigations showed a serum creatinine level of 0.9 mg/ genetic factors, IgA immune complex disease due to involved in the pathogenesis of IgA nephropathy and Hospitals, Chennai, India for preparation and reporting of renal IgA nephropathy associated with leukemia and transplant: IgA nephropathy with increased excretion of dn From Department of Pediatrics, Dr DY Patil Medical College and *Sangeeta Hospital for Children, Kolhapur, Maharashtra, India. We report a neonatal case with FAVS in association with congenital hypoparathyroidism. work_heorrljt6fez3gxovy7cyy265y sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219631353 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:13 If you need further help, please send an email to PMC. Include the information from the box above in your message. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_hfdcjr7feneiln6y3qz4qm74fy Delaware''s vaccination efforts for children have achieved high coverage rates for all of the continuously monitors State vaccine coverage level data and disease outbreaks within and and vaccine-preventable disease in Delaware by focusing on three case studies: pertussis, human these cancers (31,200 cases ever year) from ever developing.5 HPV vaccinations coverage levels the vaccine series.7 Although Delaware''s HPV coverage rates are above the national average, To address the issue of low HPV rates, the Delaware Immunization Program recently reports training for Vaccines for Children (VFC) providers, and continuing HPV-education visits, a DPH staff member reviews the current immunization coverage levels for the provider''s DPH also provides vaccination at State Service Centers located throughout The DPH diligently monitors State vaccine coverage level data and disease outbreaks within and For more information on immunizations for children, adults, and health care providers, visit details, call the hotline or visit http://www.dhss.delaware.gov/dhss/dph/dpc/immunize.html to https://www.cdc.gov/vaccines/imzmanagers/coverage/teenvaxview/data-reports/hpv/dashboard/2017.html work_hfvro26ng5btzhjhr2z4ddniiy This paper considers the question of anniversaries in relation to supposedly marginal religious groups in the era of the Reformation. The paper argues that considering memories and anniversaries amongst these communities allows us to question whether these anniversaries are an appropriate or relevant celebration of Mennonite identity (Goossen, 2017b). within the Mennonite community reveal about these memories histories produced in the 1970s and 80s on early modern Anabaptism, Anabaptist studies have not seen the same energy since. Anabaptist and Mennonite histories (Driedger, 2002; RäisänenSchröder, 2011; Monge, 2015; Hill, 2015; Goossen, 2017a). have sharpened questions of the interaction between the Reformation legacies of Anabaptism and Lutheranism (and other traditions) and brought to the fore the continued global power of histories of Mennonite communities in regional Polish archives memory cultures of early modernity and Reformation history. Memories of the Reformations and their global legacies must be https://www.luther2017.de/en/2017/reformation-anniversary/ https://www.luther2017.de/en/2017/reformation-anniversary/ work_hg2uvd3cvvacng22ny34i6fvwa [PDF] Heritability of blood pressure responses to cold pressor test in a Chinese population. Corpus ID: 15708723Heritability of blood pressure responses to cold pressor test in a Chinese population. Genetic determinants of blood pressure (BP) responses to the cold pressor test (CPT), a phenotype associated with risk of hypertension and cardiovascular disease has not been well studied. Blood Pressure Reactivity to the Cold Pressor Test Predicts Hypertension Among Chinese Adults: The GenSalt Study. Association between genetic variants of the ADD1 and GNB3 genes and blood pressure response to the cold pressor test in a Chinese Han population: the GenSalt Study Genetic influences on blood pressure with the cold-pressor test: a twin study McIlhany Ml, Shaffer Jw, Hines Ea By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_hgyy3pgxbzhnjlet2hs7fqe4vq the native-born population, is well documented.1–8 Recent immigrants are more likely for the native-born population, there is conflicting evidence about immigrants'' limited use health of and use of dental services by Canada''s Use of Dental Services by Immigrant Canadians Use of Dental Services by Immigrant Canadians care services than native-born Canadians, undertook this study to identify the factors associated with dental visits by Canadians aged 12 years and older and to compare the use of from Statistics Canada''s 1996–97 National Population Health Survey, foreign-born people of dental services than native-born Canadians, a variety of barriers to care may be present MeSH Key Words: Canada/epidemiology; dental health services; emigration and immigration/statistics proportion of immigrants reporting use of dental services larger proportion were older than 65 years; the slight difference in use of dental services may have been partly due Table 3 Reason for dental visits among foreignand native-born people 12 years of age and older, 1996–97 work_hhetxrnqgrfpfnno34wy4v4lfa Genotype-based changes in serum uric acid affect blood pressure Genotype-based changes in serum uric acid Elevated serum levels of uric acid consistently correlate with associated with lower serum uric acid levels. decrease in serum uric acid has a causal effect of lowering An association between serum uric acid (UA) and blood concentration, genetic variability is also significantly associated with serum UA levels. whether exposure to a genotype-associated lowering in serum Association of the GLUT9 Val253Ile genotype with serum UA genome-wide association study were 98 GLUT9 variants. strongly associated with serum UA levels (Table 2), and low-salt diets where each Ile allele was associated with a Association of serum UA with salt sensitivity Serum UA correlations GLUT9 genotype-based approach interactions that are not controlled for in standard population-based studies (for example, salt and fructose) are nonsynonymous variant in GLUT9 with serum uric acid levels in old order work_hhol6foaqzhxri74dbkpqdwj5m sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219651494 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:38 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_hitmdbq6vbcd3jhkivh5m6fa4m unrelated nondiabetic Caucasian and 48 nondiabetic African-American subjects for linkage disequilibrium before selecting markers for typing in the full initial observation were typed first in pooled Caucasian samples, and differences between case and control frequencies �5% were confirmed in individual Among Caucasians, 19 variants were associated with type 2 diabetes (P � 0.05), Summary of SNPs typed in Caucasian individual samples for DUSP12 region frequencies and associated alleles differed from Caucasians (Fig. 2 and supplemental Table 4S). Table 2 shows the haplotypes from the STR at �8379 through SNP �10309, with only the common (minor allele frequency �0.1) variants To determine whether DUSP12 SNPs were associated with type 2 diabetes in other populations, we Chromosome 1q21-q23 is among the best-replicated regions of linkage to type 2 diabetes, with evidence for DUSP12 IS ASSOCIATED WITH TYPE 2 DIABETES DUSP12 IS ASSOCIATED WITH TYPE 2 DIABETES DUSP12 IS ASSOCIATED WITH TYPE 2 DIABETES DUSP12 IS ASSOCIATED WITH TYPE 2 DIABETES work_hivfiuyv75ffngeoyghso7chdy Background/Objective: We examined seasonality and winter seasonal affective disorder (SAD) in the Old Methods: We estimated SAD using the seasonal pattern assessment questionnaire (SPAQ) in 1306 Conclusions: In the Amish, GSS and SAD prevalence were lower than observed in earlier SPAQ-based Identifying factors of resilience to SAD in the face of seasonal changes in the Amish could mood and prevalence of SAD based on the seasonal pattern changes, and the prevalence of SAD would be higher in the Amish epidemiological studies (Magnusson, 2000), we further hypothesized that women would have a higher prevalence of SAD than tool that is widely used in studies of seasonality and SAD. Mean GSS and frequencies of seasonal affective measures in Amish men and w heritability in the Amish population and also the first SAD study Global seasonality scores and prevalence of SAD in the Amish in all SPAQ-based studies of SAD prevalence conducted in predominantly Caucasian populations (Magnusson, 2000). work_hk6hho5mtnb7vmbx7amhh442nu Researchers have argued that diagnostic criteria and interview schedules inadequately reflect cultural influences in the definition and expression of psychopathology. diagnostic criteria and interview schedules for schizophrenia, affective disorders, and personality disorders were examined to assess the extent to which they refer to cultural factors. This study assesses the extent to which frequently used diagnostic criteria and interview schedules consider cultural factors diagnostic instruments fail to address cultural influences (Alarcon, 1983; Egeland, Hostetter, & Eshleman, 1983; Klerman, Ratcliff, 1981), Present State Examination (PSE; Wing, Cooper, & Sartorius, 1974), the Schedule for Affective Disorders and Schizophrenia RW-///(SCID; Spitzer & Williams, 1984), and the Structured Interview for DSM-II1 Personality Disorders (SIDP; Stangl, Pfohl, & Zimmerman, 1983). Diseases: Clinical Modification (U.S. Department of Health and Human Services, 1980) was considered for review, but we decided to exclude it because it is based on a classification scheme that offers no specific criteria for mental disorders. work_hkae3g3zujezzbxxtnt2wuyp4i interfaces, it can nevertheless lead to complex phenomena, such as the nanobubble-mediated longranged forces between extended hydrophobic surfaces (5), or the assembly of anisotropic particles at how water structure is perturbed near small (molecular) and large (macroscopic) hydrophobic solutes. hydration; it is this entropic penalty that causes molecular hydrophobes to assemble more strongly as temperature is increased. hydrophobic hydration at small and large length scales (2). of a minimal model of the hydrophobic effect, Vaikuntanathan the importance of such fluctuations and provides a way to incorporate them into a minimal model of the hydrophobic effect. 2 Lum K, Chandler D, Weeks JD (1999) Hydrophobicity at small and large length scales. 17 ten Wolde PR, Sun SX, Chandler D (2002) Model of a fluid at small and large length scales and the hydrophobic effect. 20 Vaikuntanathan S, Geissler PL (2014) Putting water on a lattice: The importance of long wavelength density fluctuations in theories of hydrophobic and interfacial work_hknrajcmqnexridbeycywk54gq Therapeutic hypercapnia prevents bleomycin-induced pulmonary hypertension in neonatal rats by limiting macrophage-derived tumor necrosis factor-�. Therapeutic hypercapnia prevents bleomycin-induced pulmonary hypertension in neonatal rats by limiting macrophage-derived tumor necrosis factor-�. published May 11, 2012; doi:10.1152/ajplung.00072.2012.—Bleomycin-induced lung injury is characterized in the neonatal rat by inflammation, arrested lung growth, and pulmonary hypertension (PHT), as prevented bleomycin-induced PHT without decreasing tissue macrophages and, similar to CO2, had no effect on arrested alveolar Neither tissue macrophages nor TNF-� appeared to contribute to arrested lung development induced by bleomycin. preventive effects on bleomycin-induced PHT without affecting lung growth, arrested alveolarization, or vascular Effects of TNF-� inhibition on bleomycin-induced pulmonary hypertension, macrophage influx, and abnormal distal contrast, treatment with etanercept had no effect on bleomycininduced macrophage influx (Fig. 4C), indicating that upregulated TNF-� signaling does not contribute to increased numbers of activated tissue macrophages in the bleomycin-exposed TNF-� inhibition prevents bleomycin-induced pulmonary hypertension without affecting tissue macrophage number. work_hn5l7v2zqjamvpyplgiatgn2f4 Newborn Screening for Glutaric Aciduria Type I: diagnostic sensitivity for patients with a low excreting phenotype and knowledge on longterm disease outcome. In conclusion, it has become evident that tandem mass spectrometrybased newborn screening for glutaric aciduria type I is a powerful and cost-effective tool to Keywords: glutaric aciduria type I; newborn screening; tandem mass spectrometry; False positive screening results may be due to glutaric aciduria type II (multiple acyl-CoA improves the neurological outcome of patients with glutaric aciduria type I (selection aciduria type i: Outcome following detection by newborn screening. screening for glutaric aciduria type i in victoria: Treatment and outcome. N.C. Promising outcomes in glutaric aciduria type i patients detected by newborn screening. of glutaryl-coa dehydrogenase deficiency (glutaric aciduria type i). children with glutaric aciduria type i detected through newborn screening. detection of glutaric aciduria type i by newborn screening in taiwan. Newborn Screening for Glutaric Aciduria Type I: Benefits and limitations work_hny47wqukneznofv4lktgqdyee research was to identify genetic predictors of serum lycopene concentrations using the genome-wide association study (GWAS) approach among a sample of 441 Old Order Amish adults that consumed intron region of the SETD7 gene, was significantly associated with serum lycopene concentrations This study identified a novel locus associated with serum lycopene concentrations Keywords: lycopene; carotenoids; genome-wide association study (GWAS); SETD7; SCARB1; Old intake and serum concentrations of lycopene are associated with lower risk of prostate cancer [10–12], There are two previously reported genome-wide association studies (GWAS) of lycopene. Manhattan plot for the genome-wide association study (GWAS) of serum lycopene concentrations in the Old Order Amish study population following a 6-day controlled diet. provides genome-wide significant evidence of association with serum lycopene concentrations. SETD7 locus, rs7680948, and serum lycopene concentrations in this genome-wide association study. lycopene concentrations, both of which have been associated with prostate cancer, may provide the work_ho4nfgqiy5ggbe2j55w3hy532i Purpose: This study compares the high school graduation rate of men with hemophilia to that of the Results: Men with hemophilia A had higher or similar high school graduation rates across all racial/ethnic groups and all levels of hemophilia severity, compared with U.S. men of the same age. ears with severe hemophilia found that excessive abences from school resulted in lower levels of academic uotients (IQs) in the average range.12 However, particiants who experienced high levels of physical impairent from their hemophilia had lower academic achieveent and intellectual abilities, even after adjustments o compare high school graduation rates of men with ith hemophilia tended to have similar high school gradation rates as U.S. black men. High school graduation rates by age group for U Men aged �18 years who visited U.S. hemophilia treatment centers High school graduation rates among men with High School Completion Rates Among Men with Hemophilia High School Completion Rates Among Men with Hemophilia work_hq6a2krvgfcuvo3ktdoccddonu the 3� untranslated region (single nucleotide polymorphism [SNP] �2019; deletion allele frequency 0.30 in Amish) showed strong association with adiponectin levels in a dosage-dependent manner in a direction consistent with that reported in previous studies, with variation in APM1 is responsible for linkage of adiponectin levels to 3q27 in the Old Order Amish. associated with diabetes (16) and other metabolic syndrome features, as well as with adiponectin levels themselves (16 –18). quantitative trait locus; SNP, single nucleotide polymorphism; SOLAR, Sequential Oligogenic Linkage Analysis Routines; UTR, untranslated region. environmental covariates, the additive effects of genes (i.e., residual heritability), and a specific quantitative trait locus (QTL, the linkage component). we estimated the effects of the SNP genotype on adiponectin levels, adjusting Association of six APM1 SNPs with adiponectin levels The highest LOD score, 2.13, was observed in the region containing APM1, the adiponectin structural gene. LINKAGE AND ASSOCIATION OF ADIPONECTIN LEVELS work_hqg7y4fkendqbjrqcazhfjyjqy Moyamoya Disease in a Member of the Roma Gypsy Community | Semantic Scholar Corpus ID: 11370224Moyamoya Disease in a Member of the Roma Gypsy Community title={Moyamoya Disease in a Member of the Roma Gypsy Community}, Brain MRI confirmed the presence of multiple T 1 -hypointense and T 2 -hyperintense lesions loDear Sir, Moyamoya disease is a clinical entity in which occlusion of intracranial large vessels, in particular carotid… Expand Figures and Topics from this paper Moyamoya Disease Sort by Most Influenced Papers Moyamoya Disease: Case Report and Literature Review A case report of moyamoya disease from nonendemic region of upper part of Brahmaputra Valley of North Eastern India Moyamoya disease presenting with ischemic stroke in association with diabetic ketoacidosis MOYAMOYA disease-two case reports Familial occurrence of moyamoya disease: a clinical study Clinical features of probable Moyamoya disease in Japan Human leukocyte antigen in patients with moyamoya disease. work_hqplkvze75dwzbuouq2bgexzhq The Effect of Burns & Wounds (B&W)/Burdock Leaf Therapy on Burn-Injured Amish Patients | Semantic Scholar Corpus ID: 24071652The Effect of Burns & Wounds (B&W)/Burdock Leaf Therapy on Burn-Injured Amish Patients title={The Effect of Burns & Wounds (B&W)/Burdock Leaf Therapy on Burn-Injured Amish Patients}, Purpose: The purposes of this pilot study were to measure pain associated with dressing changes, assess the presence of infection, and document healing times of burn-injured Amish in central Ohio using an herbal therapy consisting of Burns and Wounds™ ointment (B&W) and burdock (Arctium ssp.) leaves. B&W contains honey, lanolin, olive oil, wheat germ oil, marshmallow root, Aloe vera gel, wormwood, comfrey root, white oak bark, lobelia inflata, vegetable glycerin, bees wax, and myrrh. Honey-Based Salve and Burdock Leaf Dressings as an Alternative to Surgical Debridement of a Traumatic Wound Eschar Wound Healing and the Use of Medicinal Plants Banana Leaves As an Alternative Wound Dressing work_hrkxvxkzjratjmsqqfqcisedcq sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219649621 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:35 If you need further help, please send an email to PMC. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_hro7jst6azctnba3jo7albxzem Maternal-pup interaction disturbances induce long-lasting changes in the newborn rat pulmonary vasculature Maternal-pup interaction disturbances induce longlasting changes in the newborn rat pulmonary vasculature. fostered rats exhibited reduced pulmonary arterial endothelium-dependent relaxation secondary to downregulation of tissue endothelial nitric These changes were associated with neonatal onset-increased ANG II receptor type 1 expression, PV remodeling, and right In hypothesizing that maternal cross-fostering promotes neonatal pulmonary vasomotor changes via RAAS, we comparatively evaluated control and fostered rat pups in the immediate species (ROS) scavenger, reduced the fostered adult animals'' U46619-induced dose response to a level comparable Given the abnormal endothelium-dependent pulmonary arterial relaxation response of 14-day-old fostered pups, we To test whether cross-fostering-induced eNOS uncoupling was related to BH4 deficiency, we determined the lung tissue BH4/BH2 content lungs when compared with control rat values (Fig. 13), suggesting that this pathway plays a role in fostering-induced ROS work_hsfjja3na5gjziqo265lprucm4 sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_htfel2imxnfejfegwli3cqozam Snyder, in important works like The Practice of the Wild, continues to draw on what he common home."4 Berry and Snyder continue to be among the most important voices after reading Snyder''s newly published Turtle Island, Berry wrote, "Your poems offer a in which Berry thanks Snyder for what he wrote when praising Three Memorial Poems, Yet as Berry writes, after his first visit to Kitkitdizze, Snyder''s homestead "Gary Snyder and I agree on a lot of things, but his point of view is different from mine One of the differences between Snyder and Berry is more significant—but still not Thus, when Berry writes to Snyder in In his reply Snyder passes over Berry''s reference to his Christian perspective (which In a return letter Berry cautiously agrees with Snyder''s argument that for the best 2000 Snyder tells Berry this story: The gift of these letters is that both Berry and Snyder, beginning where all humans begin, work_htlgry6l3valpasmxo5tzg4gie sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219642462 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:27 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_hu4hqjbo2fcwnnesgv5a7yatnm alleles in culled buffalo and the patterns of gametic disequilibrium in HIP suggest that management may be of selection acting on immune loci in wildlife populations gene in populations of African buffalo in KNP and HIP. evident as a stronger selection signature in the HIP population where culling takes place. To test for a signature of selection within each study population, we examined the association between genetic diversity at each locus and its chromosomal distance (the absolute genetic diversity and distance from IFNG in the HIP population (AR: rho = 0.463, p = 0.111; HE: rho = 0.324, genetic diversity between the HIP and KNP populations of eroded genetic diversity in this population, BTB management (i.e. culling) could also contribute to the overall immune loci in wild populations, and that disease management might result in unintended evolutionary signature of selection in this population, we did find evidence that disease management (i.e. culling) might affect work_huhrmb7q6nav5f3hezrpcg4cnu LONG TERM MORTALITY RATES IN UNITED STATES VETERANS WITH CORONARY RISK FACTORS, WITH OR WITHOUT SIGNIFICANT CORONARY ARTERY DISEASE long term mortality rates in united states veterans with Coronary risk FaCtors, Background: Coronary artery disease (CAD) is a major cause of death in United States. Mortality rate in US Veterans with coronary Based on angiographic data, patients were divided into 3 groups, obstructive CAD, nonobstructive CAD and normal coronaries, and allcause mortality rate was assessed after a mean follow up of 7.5±3.5 years. All-cause mortality rates were 49.5% (obstructive CAD), 39.9% (non-obstructive the all-cause mortality rate in patients with risk factors only was 8.3% after a mean follow up of 4 years. cohort, without significant CAD may be due to excess burden of major cardiovascular risk factors as shown in table 1. Conclusion: In this study, high mortality rate was noted in all 3 groups with or without significant CAD. work_huksfsrflngbdkmzoigkemvnpa To identify genes for lipid-related traits, we performed genome-wide linkage analyses for levels of triglycerides and HDL, LDL, and total cholesterol in Caucasian, Hispanic, and African-American families from the Hispanic families in a region that showed suggestive evidence for linkage (LOD � 2.26) for triglycerides in this levels of LDL and total cholesterol compared with individuals who remained diabetes free. Linkage to chromosome 19 was identified for total cholesterol, triglycerides, and LDL in Pima Indians (19), non-Hispanic containing extensive phenotypic and genotypic information on individuals from different ethnic groups ascertained by the presence of at least two type 2 diabetic Statistically significant evidence for linkage was observed for triglyceride/HDL ratio (LOD � 2.45; empirical P randomly or disease-ascertained families, showed evidence for linkage on chromosome 3 for triglycerides Evidence for a gene influencing the triglyceride/HDL-C ratio on chromosome 7q32.3-qter: a genome-wide scan in the Framingham study. traits in familial type 2 diabetes: evidence for linkage of triglyceride levels work_huv7b7hiwzgwhozna54t5v3zku sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219650749 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:37 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_hwymn2ecina7rc7wrdqbe6cux4 sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219634708 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:17 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_hyfxp4fqnvbsbjzrcgutnzfitq from reliance on any such comprehensive doctrines, out of respect for the plurality of different reasonable ways citizens may choose to live their lives. All of this can, Rawls believes, be endorsed as good, and not just for consequential reasons of stability, by people who hold many different comprehensive doctrines. than Raz. On the Rawlsian view, by contrast, the state has a sphere that is narrower: that of ensuring continued support for the values that form part of the political conception itself, and of distributing to all citizens some important It is important to see that the Rawlsian state does not limit itself to cultivating sentiments and attitudes required by the political conception and its replication over time, although this will be one of its most important educational tasks. reasoning, understood in a more everyday way, both in order to support the political conception and in order to give citizens opportunities to think critically about work_hyijhhjurbfxzb7tzjshxrwah4 Not all animals are equal farm living and allergy in Upper Bavaria Background: A lower allergy and asthma prevalence in farm year old children in 63 villages covering ten different districts of number of cows per villager on lifetime prevalence of allergic rhinitis prevalence in the children of this village. Results: The farm effect is restricted to small villages only. Furthermore, districts with higher Fasciola infection rates of cows, The lower allergy prevalence in the farming population has been allergy preventive effect by farming conditions remained unlikely already noticed the effect 1989 in the Asthma and Allergy Study in Data of the Asthma and Allergy Study in Upper Bavaria 1989/1990 of allergic rhinitis decreased with increasing Fasciola infection, association of cattle farming and allergic rhinitis and find some Figure: Logistic regression analysis of allergic rhinitis in Upper Supplemental Figure 2: Allergic rhinitis prevalence 1989 in study work_hz3svybckbf6jas3fjnm3wvsvu Drivers of decoupling and recoupling of crop and livestock systems at farm and territorial scales is substantial evidence that by closing the loop in nutrient and energy cycles, recoupling crop and livestock systems at farm and territorial Yet such "integrated" crop and livestock systems remain rare as a proportion of global agricultural area. trials and demonstrations and efforts to brand integrated crop and livestock systems as a form of sustainable agriculture through the Key Words: innovation; integrated crop livestock systems; mixed farming systems; socio-technical transitions; sustainable agriculture; 4CSIRO Agriculture and Food, Toowoomba Qld, Australia, 5Embrapa Amazônia Oriental, Belém, Brazil, 6Plant Production Systems, Wageningen (high input agriculture) and semi-ICLS (integrated crop and Integrated crop and livestock systems (ICLS) as percentage of agricultural area or farms by country. traditional-ICLS (integrated crop and livestock systems). Local context factors supporting or inhibiting for persistence of traditional-ICLS (integrated crop and livestock systems) or work_hzvrq34hqzhybff6ggnaa6i3dy troponin (Tn) myofilament regulation to decrease Ca2þ sensitive force production. Tn also undergoes cardiac ischemia-induced AMPK troponin I (TnI) Serinvestigated the effect of in vivo cardiac ischemia on levels of TnI Ser-150 and Deficiency of Slow Skeletal Muscle Troponin T Causes Atrophy of Type I Loss of slow skeletal muscle troponin T (ssTnT) due to a nonsense mutation at decreased levels of other slow fiber-specific myofilament proteins while fast that ssTnT deficiency caused significant atrophy of type I slow fibers and a Attentuating the Depressive Effect of Acidosis with Mutations in Troponin Deficiency of Slow Skeletal Muscle Troponin T Causes Atrophy of Type I Slow Fibers and Decreases Tolerance to Fatigue Attentuating the Depressive Effect of Acidosis with Mutations in Troponin and with 2-Deoxy-Atp Attentuating the Depressive Effect of Acidosis with Mutations in Troponin and with 2-Deoxy-Atp The Effect of Truncated Troponin Components on Activation of Lethocerus Flight Muscle work_i272dd6xnvfohao27qgmnf4ioe enamel demineralization, an elevated antibody response to D-alanyl LTA may indicate subjects with Results: In 35 high responders, DMFT associated with length of exposure to fluoridated water (F Conclusion: Caries associates with gingival health and fluoridated water exposure in high D-alanyl therefore to determine whether elevated antibody responders to D-alanyl LTA show a association of DMFT Each sibling had at least one parent high responder to increase the likelihood of exposure to an antibody-associated oral microbiota from birth. The effect of age was determined after splitting the subjects into decile cohorts (Table 1) and comparing the fraction of high antibody responders in each cohort. serum from a high antibody responder immunoprecipitating D-alanyl LTA was 14 times greater than for a low responder. Table 3: Fraction of high antibody responders in or not in the clinical study. In high responders, DMFT increased as plaque and BOP prevalences increased and fell as fluoride exposure increased. work_i2bu4nncsnbhxev6ytlqipt2uy Homozygous Deletion in KVLQT1 Associated With Jervell and Lange-Nielsen Syndrome autosomal recessive LQT (Jervell and Lange-Nielsen syndrome, JLNS) have been reported. homozygous mutations in KVLQT1 and KCNE1 in JLNS families in which QTc prolongation was inherited as a Methods and Results—An Amish family with clinical evidence of JLNS was analyzed for mutations by use of single-strand conformation polymorphism and DNA sequencing analyses for mutations in all known LQT genes. novel homozygous 2-bp deletion in the S2 transmembrane segment of KVLQT1 was identified in affected members of this Amish family in which both QTc prolongation and deafness were inherited as recessive traits. inherited as a clear dominant trait, 2 parents in the JLNS family described here have normal QTc intervals (0.43 and Conclusions—A novel homozygous KVLQT1 mutation causes JLNS in an Amish family with deafness that is inherited as Neyroud et al18 and Splawski et al19 reported the identification of homozygous mutations of KVLQT1 in JLNS. work_i2qgoyxgn5fcjgqbeymbohgmoa The British Journal of Psychiatry | Cambridge Core Only search content I have access to The British Journal of Psychiatry The British Journal of Psychiatry You are leaving Cambridge Core and will be taken to this journal''s article submission site. Open access articles In addition to authoritative original research papers from around the world, the journal publishes editorials, review articles, commentaries on contentious articles, short reports, a comprehensive book review section and a lively, well-informed correspondence column. The RCPsych Article of the Month for February is ''Ethno-cultural disparities in mental health during the COVID-19 pandemic: a cross-sectional study on the impact... The British Journal of Psychiatry, Volume The British Journal of Psychiatry, Volume The British Journal of Psychiatry, Volume The British Journal of Psychiatry, Volume The British Journal of Psychiatry, Volume The British Journal of Psychiatry, Volume The British Journal of Psychiatry, Volume The British Journal of Psychiatry, Volume The British Journal of Psychiatry, Volume The British Journal of Psychiatry, Volume work_i2uc4p4zq5cw3jp7kacmhysxje Mennonites, Amish, and the American Civil War (review) Mennonites, Amish, and the American Civil War (review) Big Bone Lick State Park Museum and should remain a standard resource The Ohio State University Mennonites, Amish, and the American Civil War. By James O. Ohio and Indiana paid a $200 commutation fee or hired substitutes to avoid (Kent, Ohio: Kent State University Press, 2008. With his biography of Martin Davey, Frank Vazzano sets out to tell the "good Davey''s terms as governor, all of which appeared in Ohio History. Davey''s life and times during his formative years and early career during the Vazzano captures the transformation of Davey during changing times as he turns Although one of Ohio''s most successful politicians in the twentieth century who served multiple terms as mayor, in Congress, and as governor of Ohio, Davey remains elusive as a political leader. Vazzano documents Davey''s work_i2ygnhibmng5fo6u7fe7naecu4 adiponectin in Hispanic children participating in the VIVA LA FAMILIA Study by use of a systematic genome scan. chromosome 11 has been associated with obesity and diabetes-related traits in adult populations, this is the first observation of Conclusion: Our genome scan in children has identified a novel QTL and replicated QTLs in chromosomal regions previously Keywords: adiponectin; genetics; linkage; childhood obesity; QTL; genome scan adults, obese children and adolescents have lower adiponectin levels than their normal weight counterparts, and Order Amish found linkage of adiponectin levels to chromosome 3p27, and an investigation in Pima Indians, a Figure 2 String plot of fasting serum adiponectin of Hispanic children using sex, age, age2 and BMI-Z score as covariates. Table 3 Linkage studies for circulating adiponectin levels in adults Chromosomal region Markers Phenotype Population LOD score Reference Linkage analysis of circulating levels of adiponectin in hispanic children work_i34kuhda5rgxdc7r32avavb4vm https://www.research.manchester.ac.uk/portal/en/publications/focal-congenital-hyperinsulinism-as-a-cause-for-sudden-infant-death(3d52e2d1-a4c2-419c-b198-dbf735a68657).html https://www.research.manchester.ac.uk/portal/en/publications/focal-congenital-hyperinsulinism-as-a-cause-for-sudden-infant-death(3d52e2d1-a4c2-419c-b198-dbf735a68657).html https://www.research.manchester.ac.uk/portal/en/publications/focal-congenital-hyperinsulinism-as-a-cause-for-sudden-infant-death(3d52e2d1-a4c2-419c-b198-dbf735a68657).html hypoglycaemia, sudden infant death, post-mortem, congenital Title: Focal Congenital Hyperinsulinism as a cause for Sudden Infant Death Focal Congenital Hyperinsulinism as a cause for Sudden Infant Death recognition of focal CHI as a possible cause for sudden infant death. recognition of focal CHI as a possible cause for sudden infant death. unexpectedly, post-mortem pancreatic sections should be carefully examined for focal CHI. Key words: congenital hyperinsulinism, hypoglycaemia, post-mortem, sudden infant death, Congenital hyperinsulinism (CHI) is the commonest cause of persistent and severe hypoglycaemia in Congenital hyperinsulinism (CHI) is the commonest cause of persistent and severe hypoglycaemia in characteristics of the pancreas, with the focal domain associated with islet cell hyperplasia, in the focal lesion is associated with a marked expansion of insulin-expressing islet cells and the We have reported focal CHI as a probable cause of death in a child with infantile hypoglycaemia, work_i42alefpy5fhdijuk6x76gguga Gender differences in first and secondhand smoke exposure, spirometric lung function and cardiometabolic health in the old order Amish: A novel population without female smoking Amish study participants, including tobacco use and secondhand smoke exposure from Secondhand smoke exposure was also associated with reduced HDL cholesterol only in women Epidemiologic issues complicate correlative studies of the effects of tobacco smoke exposure and make the Amish a population well-suited for such investigation. In populations including female smokers, it is difficult to disentangle the effects of secondhand smoke from the exposures uniquely associated In women, secondhand smoke exposure was associated with older age (p < 0.0001) relationship between chronic secondhand smoke exposure and a small decrement in spirometric lung function in the general population[23]" Notably, a meta-analysis involving 9 cross sectional studies reported an estimate similar to ours (-2.7%, 95%CI -4.1 to -1.2%)[28]. We found lower HDL-C levels associated with secondhand smoke exposure in women only. work_i4zggxltkzdshf4hsbvtb3ifny We profiled genome-wide DNA methylation patterns in DNMT3A c.2312G > A; p.(Arg771Gln) carriers in a large Amish sibship with These findings were most marked in a carrier of the AML-associated driver mutation p.Arg882Cys. Our studies additionally defined phenotype-related accelerated and decelerated epigenetic aging in two histone methyltransferase disorders: NSD1 Sotos syndrome overgrowth disorder and KMT2D Kabuki analysis comparing Amish DNMT3A c.2312G > A; p.(Arg771Gln) pathogenic variant carriers and wild-type family members using the Illumina 450K array. (C) Top 20 Gene Ontology enrichment analysis categories associated with the 2606 DMPs identified in DNMT3A c.2312G > A; p.(Arg771Gln) pathogenic variant carriers versus wild-type Boxplot illustrating the DNA methylation changes observed in association with the DNMT3A TBRS variants studied at the DMPs identified in the Amish TBRS DNMT3A variants are associated with epigenetic age acceleration In both overgrowth conditions, TBRS and Sotos syndrome, we identified accelerated epigenetic aging as measured by the DNA methylation age calculator work_i672c4yudndsrob7o6mmuah73y sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219640902 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:25 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_i6apjikwh5eohfioslitsj6vem parameters and serum AFP as risk factors of HCC metastasis. Metastasis risk factors based on tumor staging parameters (size, number, infiltration, and vascular invasion) and serum AFP level were calculated as odds Results: AFP >400 mg/mL, index tumor size >5 cm, and vascular invasion individually had Conclusion: Serum AFP, tumor size, and vascular invasion are strongly associated with Keywords: hepatocellular carcinoma, risk factor, a-fetoprotein, stage, metastasis deaths in the USA1 and the fastest growing cancer in mortality.2 Treatment recommendation depends on the patient''s clinical status (eg, liver function and performance If validated, such criteria may allow rapid metastasis risk stratification at the time of diagnostic imaging and tumor size, number, AFP, infiltration, and vascular invasion tumor size, number, AFP, infiltration, and vascular invasion metastasis risk factors and included AFP, tumor size, number, vascular invasion, and infiltrative morphology. This retrospective study validated that tumor staging parameters are associated with metastasis risk in patients with new work_i6rg3dy3hffjrg2qyff72h4jau linkage and centromere map for lake trout, (2) identify loci underlying variation in traits that differentiate lake and (4) identify chromosomal homologies between lake trout and other salmonids of varying divergence. information with putative inversion coordinates revealed that the majority of detected inversions differentiating lake trout from other salmonids are pericentric and located on acrocentric and telocentric linkage oriented genomic research on lake trout and exploring chromosomal evolution within and between salmonid and identify chromosomal inversions and translocations differentiating lake trout from other salmonids. the linkage map by using available phenotype data to map quantitative trait loci (QTL) associated with pigmentation patterns, growth the linkage map and localizing the lake trout sex determination locus. The F2 Kingscote x Killala family was used for linkage map construction, localization of the sex determination locus, and QTL n■ Table 3 Synteny between lake trout linkage groups and Arctic char, rainbow trout, Atlantic salmon, and brook trout genomes. work_icrhczrwqbhzlamguritovctty sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_icuvd6fc5rht3f642zy66d7gw4 sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219633249 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:16 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_icwneaekzzdu3o2uopxu3oyyom Background: Ellis-van Creveld syndrome is an autosomal recessive chondro-ectodermal dysplasia characterized by disproportionate short stature, limb shortening, narrow chest, postaxial polydactyly and dysplastic nails and teeth. Case Report: Here, we report on two Mexican families with patients diagnosed with Ellis-van Creveld syndrome. All patients exhibited multiple features including hypodontia, dysplastic teeth, extra frenula, mild short stature, distal limb shortening, postaxial polydactyly of hands and feet, nail dystrophy, allows the clinical variability and spectrum of manifestations present in individuals with Ellis-van Creveld syndrome even if they carry the same homozygous mutation in a same family. The large majority of Ellis-van Creveld syndrome cases are associated with mutations in either EVC or EVC2 which are adjacent genes located on chromosome 4p16 [6–8]. characterization of Ellis-van Creveld syndrome patients from Clinical Features of patients with Ellis-van Creveld syndrome. Clinical Features of patients with Ellis-van Creveld syndrome. work_ie4t3hcm6bdpdfmpzlfrqyzdwa sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219636491 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:19 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_ieoyxmjspva6fg56gux2jyhxzq the genotype frequencies of subjects with type 2 diabetes for linkage of type 2 diabetes and impaired glucose tolerance (IGT) to chromosome 1q21-q24 (logarithm of odds 52 SNPs spanning the entire ARHGEF11 gene were significantly associated with type 2 diabetes or type 2 diabetes/ 1. Association analysis of 52 SNPs in ARHGEF11 with type 2 diabetes cases (DM; n � 145) and combined type 2 diabetes/IGT cases (DMIGT; associated with a significantly higher risk of type 2 diabetes/IGT (P � 0.010), while the AGAAGCTTA haplotype ARHGEF11 SNPs significantly associated with type 2 diabetes and type 2 diabetes/IGT in the Amish within ARHGEF11 influences risk of type 2 diabetes/IGT in Haplotype frequencies were estimated with Haploscore for the nine positively associated ARHGEF11 SNPs by case-control analysis and Sakul H, Wagner MJ, Burns DK, Shuldiner AR: Genome-wide and finemapping linkage studies of type 2 diabetes and glucose traits in the Old type 2 diabetes on chromosome 1q, are nominally associated with insulin work_ifav747wbjhl5kdng2mrmuvi2y Turismo no espaço rural: uma reflexão acerca da autenticidade dos atrativos pesquisa que analisa as características do turismo rural no MeioOeste e Planalto Serrano de Santa Catarina, regiões onde surgiram Assim, optou-se pelo uso desse termo, como alternativa aos chamados "hotéis-fazenda", que, para os Optou-se por uma composição entre as análises qualiquantitativa, uma vez que foram realizadas entrevistas com turistas e proprietários de empreendimentos, espaço com características típicas e singulares, utiliza-se como base conceitual a premissa de que o turismo rural deve estar necessariamente associado aos considerada apenas um jogo, uma parte da cultura popular pós-moderna, em que as pessoas são encorajadas a agir como turistas. E se propusermos que as cidades ou os destinos turísticos também podem ser vistos como fenômenos culturais pós-modernos ou antiauráticos? Então, à medida que o turismo rural proporciona um elemento novo na convivência das populações autóctones com seu meio, é work_ij75hjbygjgbviujehdicou4fi Hypotension following patent ductus arteriosus ligation: the role of adrenal hormones. *A list of members of the PDA Ligation/Hypotension Trial Investigators is available at www.jpeds.com (Appendix). Low cortisol levels (in infants with catecholamine-resistant hypotension) hypotension after PDA ligation have a diminished post-operative cortisol response We hypothesized that hypotensive infants would have lower post-operative cortisol Infants who developed catecholamine-resistant hypotension had cortisone) in infants who developed catecholamine-resistant hypotension (Table III). for developing post-ligation catecholamine-resistant hypotension (Table III). fact cortisol concentrations in infants who developed post-operative hypotension (responsive responsible for low cortisol values in infants who develop catecholamine-resistant increased, in infants who developed catecholamine-resistant hypotension (Table III). addition, infants who developed catecholamine-resistant hypotension had the same increase infants who developed post-ligation catecholamine-resistant hypotension were more than 2 low cortisol values play a role in the development of catecholamine-resistant hypotension or development of catecholamine-resistant hypotension: 12 of the 14 infants with Inotrope work_ij7gnkuolnhltpcrbp2yc4hspe tions for screening the general population aged 45 years for diabetes every years to assess the diabetes screening practices in this population. Table 1—Characteristics of respondents aged 45 years reporting screening for diabetes in a p p roach for the diagnosis of asymptomatic diabetes in patients with cystic fib rosis are pre s e n t e d . diabetic CF patients with normal HbA1 c, obesity observed in type 2 diabetic patients the other hand, patients with type 2 diabetes had significantly lower insulin secretion (212 ± 85 pmol l 1 m i n 1, P = insulin sensitivity in diabetic subjects. and glucose effectiveness in type 2 diabetic and glucose effectiveness in type 2 diabetic both of which can be safely used by diabetic patients during exposure to moderately high altitudes. patients with type 2 diabetes who were c o n t rol in patients with type 2 diabetes. work_ijdfy3hygjawfg4b2ydjvj4n34 Journal of Medical Genetics, 1979, 16, 238-244 Medical Genetic Studies of the Amish. Amish formed a majority of the Baltimore population, but this book shows clearly how worthwhile the medical and population genetics. those dealing with general and population genetics, studies of previously recognised Mendelian syndromes, and (the largest section) ''new recessively The value of the studies in this book extends far Amish studies is the detail and accuracy of the to the book are themselves of Amish origin, and it is Anyone working in medical genetics to whom the Amish are unfamiliar should read this book without studying genetic isolates. investigation, where studies of genetic diseases have British Medical Bulletin: The HLA System (Figures + Tables. Medical journals are now replete with articles on latest issue of the British Medical Bulletin provides chemistry of HLA antigens, and the ''new'' HLADRW locus are considered in 4 articles. work_ikfvovri6ve7djhhj2k3ct3ooe Investigating Seven Recently Identified Genes in 100 Iranian Families (GJB4, GJC3, and SLITRK6) reported in neighboring countries among Iranian families with ARNSHL. Methods: One hundred unrelated families with at least two affected siblings in consanguineous marriage, who were negative for GJB2 gene mutations, were selected. Discussion: These data demonstrate a very low prevalence of mutation in these three genes (GJB4, GJC3, and SLITRK6) in the Iranian population, since no mutation was detected in our study group of 100 Keywords: Autosomal recessive non-syndromic hearing loss, homozygosity mapping, linkage analysis, three new HL genes (GJB4, GJC3, and SLITRK6). The candidate genes, their locations, the reported linked families in different countries. Gene Chromosome Locus Country Mutation References the three genes, GJB4, GJC3, or SLITRK6, after No. Locus Gene No. of linked families Clinical features STR Markers three different genes (GJB4, GJC3, and SLITRK6) the connexin gene family as a cause of nonsyndromic work_ior6aqlkdvhttkw5oq72ax7go4 Familial Hypercholesterolemia and Type 2 Diabetes in the Old Order Amish Alleles associated with lower levels of LDL cholesterol was recently addressed in a large familial hypercholesterolemia (FH) screening study, which reported a lower prevalence of self-reported diabetes in FH subjects than in To extend this observation, we tested the association of FH with diabetes status and glycemia in a large Amish population enriched supporting an association between the APOB R3527Q variant and T2D or glycemia and highlight the asymmetry of prevalence and mean levels of glycemia-related traits, including glucose and insulin values measured during oral Amish Family Diabetes Study (9), and subjects having a 2-h the association of glucose and HbA1c levels with APOB fasting insulin, and HbA1c as well as HOMA-IR in individuals without diabetes according to genotype. associations between LDL-C and the risk of diabetes. Association between low-density lipoprotein cholesterol-lowering genetic variants and risk of type 2 diabetes: a metaanalysis. work_irrvneidobeqvghe6ng4nycgqy study was to evaluate the content-validity of photographs taken in the home for use as an educational instrument to were provided 27 photographs to evaluate home fire safety practice. Assessment of home fire safety (HFS) practices most frequently involved checking for fire alarm location(s), and functionality (Gielen et The United States Fire Administration''s Home Fire Safety provided researchers permission to take photographs of "safe" and "unsafe" home fire hazards within their residence. community participants and HFS team members rated the photographs the effectiveness of the photographs obtained in the two previous studies (Lehna et al., 2015a; Lehna et al., 2015b) with both a local and a national group of burn prevention experts. Administration''s Home Fire Safety Checklist (United States Fire Using photographic interpretation to evaluate the safety of home environments Using photographic interpretation to evaluate the safety of home environments Using photographic interpretation to evaluate the safety of home environments work_itmca66wvfdjlp7g64jlolrw7a We have attempted to identify regions involved in the transcriptional regulation of the DAT1 (HUGO approved symbol SLC6A3) gene haplotypes of the proximal promoter/intron 1 region, representing the two previously identified 5� clades. transcription with inclusion of the 9and 10-repeat alleles of the 3� VNTR, introns 9, 12, and 14 appear to contain enhancer elements capable Keywords: Dopamine transporter; Dopamine; Bipolar disorder; Genetic variation; Single-nucleotide polymorphism; Gene expression; Transcriptional region and intron 1 [2] and inserted upstream of the luciferase reporter gene to generate three constructs for each (A) Illustration of the haplotype structure of the 5� (promoter through intron 6) and 3� (exon 9 through exon 15) regions of the DAT1 gene, indicating the candidate genomic regions that may include sequence variants that contribute to functional variation in gene expression and possible susceptibility to human disease. work_iwlg2oh4v5autdzgomjsmnjvhu [PDF] Preliminary results of a novel hay-hole fall prevention initiative | Semantic Scholar Corpus ID: 206095213Preliminary results of a novel hay-hole fall prevention initiative title={Preliminary results of a novel hay-hole fall prevention initiative}, author={Erich K. BACKGROUND Hay-hole falls are a prevalent source of trauma among Anabaptists—particularly Anabaptist youth. METHODS Following the creation of a rural trauma prevention syndicate, hay-hole cover prototypes co-designed and endorsed by the Pennsylvania Amish Safety Committee were developed and distributed… Expand Sort by Most Influenced Papers Sort by Citation Count Childhood Injuries Due to Hay-Hole Falls: A 19-Year Experience at a Rural Pediatric Trauma Center Injuries from falls in the pediatric population: an analysis of 729 cases. Pediatric Injuries Attributable to Falls From Windows in the United States in 1990–2008 By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_ixng6uc65fetth4gmlkzd2233m sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219641412 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:25 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_iyklboj7hbbptpxdneb4nwiqfm sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219650698 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:37 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_izg467euxzbufnh3e4xuslmcya sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219630442 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:12 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_j262nnt4dndejb7ho6m25uipvy sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219634430 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:17 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_j3q6teftybhqhpgc2i3l22c3ne sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219637594 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:21 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_j7kjip5ncjexjo6lzflnvy62au The mitochondria of Slc25a19�/� and MCPHA cells have undetectable and markedly reduced ThPP content, respectively. Functional data showed that SLC25A19 transported deoxynucleotides across membranes in an in vitro assay Abbreviations: MCPHA, Amish lethal microcephaly; En, embryonic day n; AKG, �-ketoglutarate; ThPP, thiamine pyrophosphate; AKGuria, �-ketoglutaric acid; MEF, murine embryonic fibroblast; ThMP, thiamine monophosphate; KGDH, AKG dehydrogenase; PDH, pyruvate dehydrogenase. loss-of-function mutations in SLC25A19 do not disrupt mitochondrial deoxynucleotide pools in mice or in humans. similarity), the ability of SLC25A19 to transport ThPP and ThMP was tested by using phospholipid vesicles reconstituted with recombinant wild-type and G177A mutant human SLC25A19. Mitochondrial dNTP levels in wild-type and mutant MEFs and human Transport assays of wild-type and mutant SLC25A19. wild-type and mutant human and mouse cells were isolated. fraction of human lymphoblasts, ThPP and ThMP levels were activities were lower in SLC25A19 mutant cells than in controls. work_jaf5yaw6fnb35pm2jw3lnsisgu introduction: Ellis-van Creveld (EVC) (OMIM # 225500) syndrome is a rare skeletal dysplasia disorder transmitted by autosomal recessive inheritance. introducción: El síndrome Ellis-van Creveld (EVC) (OMIM #225500) es una displasia esquelética rara de herencia autosómica recesiva, cuyo diagnóstico se realiza por sus características fenotípicas como la condrodisCASOS CLíNICOS Caracterizar un caso de paciente con diagnóstico clínico de Síndrome de EVC. manos pequeñas, braquidactilia, pliegue palmar único, polidactilia post axial en miembros superiores, polisindactilia preaxial bilateral en miembros inferiores y uñas hipoplásicas, cardiopatía compleja y tórax estrecho, en (palabras clave: Síndrome Ellis-van Creveld, Displasia condroectodérmica, Polidactilia, Anomalías congénitas). extremidades con huesos largos cortos, rizomelia (figura 1), manos pequeñas, braquidactilia, pliegue palmar único, polidactilia post de Ellis van Creveld (EVC) y las encontradas en el paciente Los pacientes con EVC presentan talla menor al percentil 3, con extremidades desproporcionadas con respecto del tronco, anomalías esqueléticas, polidactilia principalmente prenatal del Síndrome Ellis Van Creveld: reporte de work_jaxsaqwozrgmza66nt24gtsghq Decades of longitudinal research on bipolar affective disorder (BPAD) revealed cosegregation of high numbers of EvC disorders in these families, no EvC individual has ever been reported with BPI. reported chromosome 4p16 BPAD locus with protective alleles, coupled with detailed clinical observations that EvC and BPI do not occur in the same individuals, led us to hypothesize that the genetic defect causing EvC in the Amish confers protection from BPI. homozygous Amish EVC mutations causing EvC dwarfism do so by disrupting sonic hedgehog (Shh) signaling, our data implicate hedgehog signaling in EvC confers protection from BPI and Phenotypic subcategories for BPAD (the standard DSM subcategory for the Affective Disorders) as developed by the AMISH STUDY Psychiatric Board, Disruption of sonic hedgehog signaling in Ellis-van Creveld dwarfism confers protection against bipolar affective disorder Disruption of sonic hedgehog signaling in Ellis-van Creveld dwarfism confers protection against bipolar affective disorder work_jb4aby43dzdllprcnre2oxiq5u Title Relationship between structural and stress relaxation in ablock-copolymer melt Author(s) Patel, AJ; Narayanan, S; Sandy, A; Mochrie, SGJ; Garetz, BA;Watanabe, H; Balsara, NP Relationship between Structural and Stress Relaxation in a Block-Copolymer Melt The relationship between structural relaxation on molecular length scales and macroscopic stress relaxation time, measured by x-ray photon correlation spectroscopy is larger than the terminal stress relaxation time, measured by rheology, by factors as large as 100. generally difficult to measure directly, can be readily observed in relatively simple stress relaxation experiments of structural relaxation on molecular length scales The goal of this Letter is to identify the structural relaxation process that dominates the XPCS signal from our diblock-copolymer melt, and to explore the relationship between structural and stress relaxation. 4. Comparing the structural relaxation time, �struc with structural relaxation time as predicted by the Fredrickson-Larson We have found that the structural relaxation time can be work_jbacok4h7rhszlmfgtyvrcmaeu reported a new LCA locus on chromosome 14q24, but the gene Based on linkage data and a compelling physiological profile, PEDF is still, an obvious and intriguing candidate gene for photoreceptor degenerations, particularly LCA. Purpose: Leber congenital amaurosis (LCA) has been mapped to chromosome 17p13.1. study was to identify mutations and polymorphisms in the PEDF gene in LCA patients of diverse ethnic origin. Methods: Automated genotyping with four 17p13.1 markers flanking the PEDF gene was performed to assess homozygosity and PCR-SSCP combined with direct sequencing was used to detect mutations in the PEDF gene in 17 LCA Conclusions: We report the discovery of four new polymorphic alterations in the PEDF gene in LCA patients and exclude by RFLP analysis the PEDF gene as a common cause of Leber congenital amaurosis. remains an important candidate gene for inherited retinal diseases that map to chromosome 17p13 [24] such as, autosomal work_jg2rqcstj5dztnj5yscbws7wi4 sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219647757 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:33 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_ji2irfeua5dynf322p3w2vgb6e Inhaled nitric oxide (NO) and other cGMPor cAMP-dependent pulmonary vasodilators are often used in combination for the treatment of the persistent pulmonary hypertension of the newborn syndrome. There is in vitro evidence to indicate that NO downregulate the pulmonary vascular response to cGMP-dependent agonists raising concern as to whether a synergistic effect is observed when employing a combined strategy in newborns. Soluble guanylate cyclase modulators blunt hyperoxia effects on calcium responses of developing human airway smooth muscle. Prolonged treatment of porcine pulmonary artery with nitric oxide decreases cGMP sensitivity and cGMP-dependent protein kinase specific activity. Acute vasodilator effects of Rho-kinase inhibitors in neonatal rats with pulmonary hypertension unresponsive to nitric oxide. Reduction in soluble guanylyl cyclase-specific activity following prolonged treatment of porcine pulmonary artery with nitric oxide. Mechanisms of relaxant activity of the nitric oxide-independent soluble guanylyl cyclase stimulator BAY 41-2272 in rat tracheal smooth muscle. work_ji4rtgemzncahotce63xl3cb64 Co-ordination polymers of this CPHQ bis-ligand were prepared with Cu+2, Co+2, Ni+2, Mn+2 and Zn+2 metal All of these Co-ordination polymers and the CPHQ ligand were characterized by elemental analysis, IR, NMR spectral studies, thermogravimetry, electronic The synthesized novel Bis-ligand and their Co-ordination polymers were screened for their Key Words: Heteronuclear Bis-ligand; Co-ordination polymer; spectral studies; magnetic moment; antibacterial and antifungal activities. polymers bis(oxine), bidentate ligand based on transition metal compounds in which the Co-ordination polymers having bis-azo dye containing ligands route for the preparation of bis-ligand and its Co-ordination polymers are The results of elemental analyses of Bis-ligand CPHQ and its Co-ordination CPHQ-Cu2+ Co-ordination polymers shows two broad bands at 15,380 cm-1 and Thermogravimetric analysis of Bis-ligand (CPHQ) and their Co-ordination polymers. data reveal that the Bis-ligand CPHQ and its Co-ordination polymers shows Antibacterial activities of Bis-ligand (CPHQ) and their Co-ordination polymers. Antifungal activity of Bis-ligand (CPHQ) and their Co-ordination polymers. work_jimuckmfm5clphfzqsbakxhpgm sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219642948 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:27 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_jkedk6i6fjgh7phg77smo74pdu movement that is sceptical of technology) uses digital media in general, and the internet in communicate with people through digital media, the Laestadian movement choses another congregation": Institutionalized Laestadianism and the use of digital media congregation": Institutionalized Laestadianism and the use of digital media movement, uses digital media in general, and the internet in particular, in their work. study on the use of digital media within the Laestadian movement can give us other All six informants mention that they use different kinds of digital media – the movement, it is possible to use digital media for communication. and Use of Internet within the Laestadian Movement. "If you need a virtual community, something is wrong with your congregation": Institutionalized Laestadianism and the use of digital media "If you need a virtual community, something is wrong with your congregation": Institutionalized Laestadianism and the use of digital media work_jkesysms6zajfp5lxwea2yqmxa [PDF] Negotiating agency: Amish and ultra-Orthodox women''s responses to the Internet | Semantic Scholar Corpus ID: 32167106Negotiating agency: Amish and ultra-Orthodox women''s responses to the Internet title={Negotiating agency: Amish and ultra-Orthodox women''s responses to the Internet}, New Media Soc. This study explores how women in two devout religious communities cope with the Internet and its apparent incompatibility with their communities'' values and practices. Sort by Most Influenced Papers Offline: The possible effects of Internet-related behavior on work values, expectations, & behavior among Ultra-Orthodox millennials View 1 excerpt, cites background View 1 excerpt, cites background View 1 excerpt, cites background View 1 excerpt, cites background View 1 excerpt, cites background View 1 excerpt, cites background View 1 excerpt, cites background View 1 excerpt, cites background Discursive Legitimation of a Controversial Technology: Ultra-Orthodox Jewish Women in Israel and the Internet Gender, Religion, and New Media: Attitudes and Behaviors Related to the Internet Among Ultra-Orthodox Women Employed in Computerized Environments work_jniwswbfhvgpvgmuzxjxpy5t3m Little is known about the symptoms and course of major mood disorders in Anabaptists. Results: Despite substantial cultural differences, the profile of manic and depressive symptoms during illness episodes did not significantly differ between the two groups. Keywords: Depression, Mania, Bipolar disorder, Amish, Mennonite, Alcohol, Head injury, Concussion DIGS is a semi-structured assessment of major depression, mania, psychosis, alcohol/drug abuse and dependence, suicidal behaviors, and anxiety disorders. depression shines through cultural and genetic differences, while alcohol comorbidity may differentially influence the course and severity of major mood disorders in Fig. 4 Interactive effects of group and alcohol use disorder on number of "clean" major depressive episodes in Anabaptist (n = 100) and AUD: alcohol use disorder; AMBiGen: Amish Mennonite bipolar genetics study; Symptom profiles and illness course among Anabaptist and Non-Anabaptist adults with major mood disorders Symptom profiles and illness course among Anabaptist and Non-Anabaptist adults with major mood disorders work_jo3hxn47sbdj3hhbizmxnnfzyy sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219643798 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:28 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_joywji2vabejrc3y6yzx2psqku the real-world effectiveness of voglibose in terms of efficacy and safety, and the usage pattern as monotherapy or add-on treatment controlled T2DM (glycated hemoglobin [HbA1c] 7.0–10.0% despite diet, exercise and/or antidiabetic agents), treated with voglibose monotherapy postprandial blood glucose (FBG and PPBG) levels and bodyweight, pattern of usage and safety assessments. Most participants (75%) received voglibose as add-on therapy and the most commonly prescribed Conclusions: Voglibose, monotherapy or add-on therapy, significantly reduced HbA1c, FBG and Voglibose, HbA1c, hyperglycemia, diabetes, observational study or add-on treatment in patients with type 2 diabetes mellitus (T2DM) from study to understand usage and effect of voglibose as monotherapy or add reported reduction in mean HbA1c of 1.96% with voglibose (0.2 mg three Mean reduction of 27.1 mg/dL in FBG was observed in our study. safety and tolerability of voglibose reported in several studies.14,17,16,19–21 voglibose in comparison with acarbose in type 2 diabetic patients. work_jpxw5p5j5beu3jpyujuveiwxnm The ossicular chain transmits and amplifies vibrations incident on the tympanic membrane across the middle ear cavity, causing deflection of the oval window, which is attached to the (b) Threedimensional VR CT image (view from the dissected medial portion of the temporal bone) shows (b, c) Three-dimensional VR CT images (view from the dissected tympanic cavity looking into the oval window) obtained with (b) and without (c) the stapes (St) present show Three-dimensional VR CT image (anterolateral view) shows the normal bony labyrinth, which consists of the cochlea (Co), vestibule (Ve), and semicircular canals (SCC). Three-dimensional VR CT image (superior view) shows the bony canal for the facial nerve (FN) dissected in its Three-dimensional VR CT images (posterior [a], superior [b], and lateral [c] views) show the course of the facial nerve through its bony canal as it exits the anterosuperior aspect of the fundus of the internal auditory canal (IAC). work_jq74zdrtxnbdzbxjjaca4z3lxm Notes from the Field: Multidrug-Resistant Tuberculosis Among Workers at Two Food Processing Facilities — Ohio, 2018–2019 (ODH) reported three cases of multidrug-resistant tuberculosis (MDR TB)* in persons who worked in two food the CDC-ODH team could begin its investigation; facility A positive test results, 19 (32%) began latent tuberculosis infection treatment (Table). tuberculin skin test in the United States, and 16% have a positive interferon-g release assay result (2). of positive TB test results at the workplace provides evidence the TB transmission source for the index patient remains uncertain, the low prevalence of MDR TB in the United States and documented direct exposure to an MDR TB patient, health care workers with exposure to a multidrug-resistant (MDR) TB patient, health care workers with In addition, providers should consider prompt molecular detection of drug-resistance testing for TB patients with risk factors TB is common, and known contact with patients with drug-resistant TB. https://www.cdc.gov/tb/topic/basics/risk.htm https://www.cdc.gov/tb/topic/basics/risk.htm https://www.cdc.gov/tb/statistics/reports/2018/national_data.htm https://www.cdc.gov/tb/statistics/reports/2018/national_data.htm work_jsie373ikrbk5flmjvme63m4pi and whole-exome sequencing on samples from families from the Amish community of Ohio, we have demonstrated that mutations in KPTN, encoding kaptin, cause a syndrome typified by macrocephaly, neurodevelopmental delay, and seizures. analyses in primary neuronal cell cultures showed that endogenous and GFP-tagged kaptin associates with dynamic actin cytoskeletal developmental disability and brain development,5–7 highlighting the important role of the actin cytoskeleton in Wild-type Flag-kaptin was observed to be localized at F-actin-rich foci in close proximity to the cell bodies this, wild-type Flag-kaptin accumulated at COS-7 cell (A and B) Flag-kaptin colocalized with F-actin-rich foci at the cell body and in growth cones (examples of both are marked by arrow heads Puncta enriched with anti-kaptin immunoreactivity (marked by arrow heads) were rich in F-actin, as shown (GFP-kaptin) was found to localize at F-actin-rich lamellipodia of COS-7 cells, both altered forms of kaptin displayed no Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures work_jup5b3sl2vf6pfb6u3fmr5dr74 sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219632849 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:15 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_jvvndfoxe5gwrngpi6pfays5qi Challenges and Opportunities for North American Hardwood Manufacturers to Adopt Customization Strategies in an Era of Increased Competition Keywords: customization; competitive advantage; lean; agile; supply chain; hardwood products furniture industry [10,11], where customized production and strategic supply chain alliances are key Similarly, Dugan [12] has called for several "new rules" for the U.S. furniture industry, including agility, niche marketing, supply chain development, and lean production. lean manufacturing, supply chain agility, and local sourcing/purchasing of goods. Successful implementation of mass customization in the hardwood products industry has customization, including the related concepts of agility, lean manufacturing, economic clustering, clustering section that describes how sectors of the furniture industry that customize products (similar [38] explored supply chain management in the forest products industry of western In the wood products industry, implementation of lean manufacturing has been associated with Supply chain measures of performance for wood products manufacturing. work_jwflz7uunfhctkczbi6mo6ymwa sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219631776 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:14 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_jx4rvqykm5cdfgkrg7ctxl3vxa Mutation screening of the DYT6/THAP1 gene in Italy THAP1 gene in 158 patients with DYT1-negative PTD with right writer''s cramp at age of 10 years and, subsequently, developed left arm dystonia and an extremely upper body involvement, including the cranial and cervical districts that are usually spared in DYT1-PTD. Key words: primary torsion dystonia; DYT6; THAP1; torticollis DYT1-negative families with early-onset nonfocal PTD patients with THAP1 mutations so far reported, the particular, up to 78% patients presented cranial dystonia, of whom a large proportion experienced speech The THAP1 gene was first tested in 130 patients of known patients with THAP1 mutations had an onset reported by Bressman et al who included in the screening only familial cases in which at least 1 patient had Ferraris, Emanuele Bellacchio, Alessandro Giovanetti, Tamara Ialongo, Giovanna Zorzi, Carla Piano, Martina Petracca, THAP1 gene are responsible for DYT6 primary torsion dystonia. Mutations in THAP1 (DYT6) in early-onset 2427DYT6/THAP1 DYSTONIA IN ITALY 2427DYT6/THAP1 DYSTONIA IN ITALY work_jy3xvrxsy5bvnfliqnlrqxyyja sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219635836 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:19 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_k262el2b4zcf5hyxn3kupwv2o4 sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_k2iypeve6rgjbkoz7xv76uf32a sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219632400 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:15 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_k3brmsnrs5gizm23zf74qalx7e Understanding the effects of hybridization on native populations (e.g., fitness consequences) requires numerous species-diagnostic loci distributed genome-wide. RAD libraries for individuals from diverse sampling sources, including native populations of WCT and hatchery broodstocks of mapped to a draft genome assembly could provide the marker density required to identify genes and chromosomal regions influencing selection in admixed populations of conservation concern and evolutionary interest [Current Zoology 61 (1): 146–154, Keywords Conservation genetics, Hybridization, Invasive species, Next generation sequencing, Salmonid fish, SNP discovery We previously identified a set of 4,914 diagnostic loci using relatively short-read (60 bp) RAD sequencing populations, longer reads, and alignment to the reference genome increases the number of diagnostic SNPs species-diagnostic SNPs between RBT and WCT (HoFig. 4 Individual-level and population-mean admixture proportions (marked by +) estimated from a previous set of 7 diagnostic loci (left panel; Boyer et al. work_k4xtsujbu5ef7d7o7zmcvm7tj4 DYT6 dystonia: Review of the literature and creation of the UMD locusspecific database (LSDB) for mutations in the THAP1 gene THAP1 gene to colligate all reported patients with a specific THAP1 mutation and the associated clinical signs in mutations, we created a Locus-Specific Database (UMDTHAP1 LSDB) available at http://www.umd.be/THAP1/. THAP1 mutations cause DYT6 dystonia, an autosomal dominant primary form Fifty-three different mutations in the THAP1 gene have been reported so far in 56 families (Table 1). information on this gene and on the patients with THAP1 mutations The enlargement of the group of patients with THAP1 mutations (108 up to now without the asymptomatic carrier) has provided new data for delineating the phenotype of DYT6 dystonia, Five mutations are predicted to impair THAP1 DNA-binding activity: c.77C>G [Houlden et al., 2010]; Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening Mutations in the THAP1 gene are responsible for DYT6 primary work_k6haxdiagrexzpjtujwnlduarm tulburărilor afective bipolare este variabilă la copii Un diagnostic precoce al tulburării afective bipolare la copii şi adolescenţi este asigurat de o serie Toate aceste simptome ale tulburării afective bipolare pot fi infl uenţate de contextul cultural. Bipolar disorder remains a condition which it is underdiagnosed and misdiagnosed among children and Key words: bipolar disorder, children, diagnosis, therapy number of children presented with bipolar disorder bipolar disorder in children and adolescents (5): Adolescent patients with bipolar disorder had Clinical course of bipolar disorder by age of than other patients with bipolar disorder because Therapeutically strategies for children and adolescents with bipolar disorder are based mostly on Diagnosis of bipolar disorder in children and Pharmacotherapy of Bipolar Disorder in Children and Adolescents CNS 5. Eric Taylor – Managing bipolar disorders in children and adolescents health aspects of bipolar disorder in children and adolescents Current Depressive Symptoms in Adolescents with Bipolar Disorder Journal of work_k76kx3cc7zdknfgs52zcxugzcy KIR haplotypes defined by segregation analysis in 59 Centre d''Etude Polymorphisme Humain (CEPH) families Erratum to: Immunogenetics discuss and cite a key study closely related to ours (Norman 27 of the 57 families used in our study. 2. A statement referring to the families used in the study KIR genes (Martin and Carrington 2007) in members of 57 CEPH families of European descent and determined haplotypes based on segregation analysis (Figure 1). families from Utah. KIR data from 27 of the 46 Utah families used in the present study were previously reported by Norman Our study includes an additional 30 families and Immunogenetics 56:225–237 doi:10.1007/s00251The online version of the original article can be found at http://dx.doi. Immunology Division, Department of Pathology, University of Cambridge, http://dx.doi.org/10.1007/s00251-008-0334-y http://dx.doi.org/10.1007/s00251-008-0334-y KIR haplotypes defined by segregation analysis in 59 Centre d''Etude Polymorphisme Humain (CEPH) families /CalRGBProfile (sRGB IEC61966-2.1) /sRGBProfile (sRGB IEC61966-2.1) work_kb4mrmneszcgteyvhtikralcsq sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Intraprocedural MRI provided anatomic confirmation of stent strut apposition and functional corroboration of aneurysm exclusion and restoration of laminar flow in successful cases. device visualization and complement the soft tissue contrast afforded by MRI for precise Magnetic resonance imaging also permits immediate postprocedural anatomic and functional evaluation of successful aneurysm exclusion. (D) Homemade endograft device with active stent as desc The active-marker/passive-stent device (Fig. 2B, one The loopless coil design of the active-stent device (Fig. C, two tested) provided good signal except along the distal Real-Time Magnetic Resonance-Guided Endovascular Repair of Experimental Abdominal Aortic Aneurysm in Swine Real-Time Magnetic Resonance-Guided Endovascular Repair of Experimental Abdominal Aortic Aneurysm in Swine Endograft devices and MRI work_kcgxe3p42bfmnhkivxtbkeffry Pitfalls of genetic counselling in Pfeiffer''s syndrome SUMMARY A family with Pfeiffer''s syndrome is presented in which members of two generations showed only partial but relevant syndactyly before a child was born, in the third generation, with the Large big toes, partial syndactyly of toes Pfeiffer''s syndrome illustrates the pitfalls in genetic Examination of the male child showed acrocephaly, hypertelorism, antimongoloid slant of the and fourth toes and large big toes (fig 3). toes and large big toes (fig 3). and large big toes (fig 3). In all affected family members examined there and partial fusion of the phalanges of the big toes Pitfalls ofgenetic counselling in Pfeiffer''s syndrome Pitfalls ofgenetic counselling in Pfeiffer''s syndrome feet compatible with Pfeiffer''s syndrome. Friedman8 reported a family with affected members Pfeiffer syndrome: an unusual type of acrocephalosyndactyly with broad thumbs and great toes. Familial acrocephalosyndactyly (Pfeiffer syndrome). Pfeiffer syndrome: report of a work_kcqmtroysnbffjrkrrkhjxjglu Variants in the growth factor receptor-bound protein 10 (GRB10) gene were in a GWAS meta-analysis associated with reduced glucose-stimulated insulin secretion and increased risk of type 2 diabetes (T2D) if inherited from the father, but Funding: Studies at LUDC in Malmö (DGI, BPS, PPP, MPP and human islets) were supported by grants from the Swedish Research Council (SFO EXODIAB: Dnr 2009have here performed the first large-scale meta-analysis for glucosestimulated insulin secretion (GSIS) during an oral glucose association (p,561028) with insulin secretion measured as corrected insulin response (CIR) to glucose at 30 min during an OGTT for We also observe tissuespecific differences in DNA methylation and allelic imbalance in expression of GRB10 in human pancreatic islets. SNPs associated with primary insulin secretion traits at genome-wide significance levels. SNPs tested for association with insulin secretion measured as CIR and AUCIns/AUCGluc (trait abbreviations are listed in the Methods ''''Phenotype definition'''' section). Parent-of-origin effect of GRB10 rs933360 on insulin secretion and glucose levels. work_kdcw4qbeondzjljikmwnynee4i sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219642863 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:27 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_kduxsgu67jgytlekg5tn4cfhiu Background-—The effect of physician-staffed helicopter emergency medical service (HEMS) on ST-elevation myocardial infarction The purpose of this study was to evaluate the characteristics and outcomes of physicianstaffed HEMS (Physician-HEMS) versus non-physician-staffed (Standard-HEMS) in patients with STEMI. Methods and Results-—We studied 398 STEMI patients transferred by either Physician-HEMS (n=327) or Standard-HEMS (n=71) The Standard-HEMS group was more likely than the PhysicianHEMS group to receive nitroglycerin (37% vs 15%; P<0.001) and opioid analgesics (42.3% vs 21.7%; P<0.001) during transport. After adjusting for age, sex, Killip class, and transport time, patients transferred by Standard-HEMS had increased risk of any serious in-hospital adverse event (odds ratio=2.91; 95% CI=1.39–6.06; P=0.004). P rimary percutaneous coronary intervention (PCI)improves survival in patients with ST-elevation myocardial infarction (STEMI) and is the optimal treatment when Helicopter Emergency Medical Services (HEMS) are commonly used to transport patients from non-PCI centers (ie, transport time, patients transferred by Standard-HEMS had an work_kepealiuarcfxjntdetdfdcei4 Newborn Screening Program to help families in the plain population identify family members who may be at risk for having Newborn Screening Program to identify members of the Plain population who are at risk for having children with maple syrup urine disease (MSUD) or propionic acidemia (PA) or who have PA. Methods: Because of the high prevalence of metabolic conditions in the Plain population and the importance of early intervention, a statewide outreach project was developed to provide Carrier testing for common inborn errors of metabolism in Wisconsin''s Plain population | KUHL et al Education REpoRt Carrier testing for common inborn errors of metabolism in Wisconsin''s Plain population | KUHL et al Education REpoRt Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population work_kf2xw7mkxzel7e4hjza7kmyybi Weyers acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail (oral frenula), dental abnormalities (neonatal teeth, hypodontia, and premature tooth loss), cardiac malformations (atrial septal defect and single atrium), genitourinary anomalies (epispadias and hypospadias), limbs are similar in Ellis–van Creveld and Jeune syndromes, but nail dystrophy, abnormal frenula, and cardiac abnormalities are not found in the latter condition. dominant form of postaxial polydactyly type A to chromosome 7p15-q11.23 recently was reported in a fivegeneration Indian family with no other clinical findings the autosomal dominant mild short stature, four-extremity postaxial polydactyly type A, onychodystrophy, hypodontia, and abnormal frenula, with which the affected The proband in this family has features most consistent with Ellis–van Creveld syndrome. a condition with features of both Weyers acrofacial dysostosis and Ellis–van Creveld syndrome. Autosomal Dominant Postaxial Polydactyly, Nail Dystrophy, and Dental Abnormalities Map to Chromosome 4p16, in the Region Containing the Ellis–van Creveld Syndrome Locus work_kgzq2ijo7zbmbecvlbctztb5ku Abstract Cartilage-hair hypoplasia (CHH) is an ¿utosomal recessive metaphyseal chondrodysplasia character­ chromosome 9 in Finnish and Amish families. genetic homogeneity of CHH in various populations, we Department of Human Genetics, University Hospital Nijmegen, loci studied, suggesting that CHH in these families results chromosome 9 by linkage in Finnish and Amish families both Amish and Finnish families (Sulisalo et al 1994a, b). The polymerase chain reaction protocols for the detection of microsatellite markers have been described previously (Sulisalo et al, marker alleles in these families is shown in Fig. 1, The in both Finnish and A m ish families (Sulisalo et al. In Finnish families, C H H is associated with allele 3, chromosomes of the Finnish and A m ish C H H families, pelle A de la, Kaitila I (1993) Cartilage-hair hypoplasia gene mapping of the cartilage-hair hypoplasia gene in Am ish and la, Kaitila I, Sistonen P (1994b) High resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene. work_ki2dskkrg5dz7gprd5j3tifuam sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_kjp4ntcr35gqlcufgpxrwgrvfu sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219652868 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:39 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_kmmrtdanmnds7mkac2jovjkceq Calcium-sensing receptor antagonism or lithium treatment ameliorates aminoglycoside-induced cell Together, these data implicate CaR activation and a lithiuminhibitable signalling pathway in the induction of cell death by gentamicin in renal kidney (OK) cells express a calcium-sensing receptor (CaR)-like protein and elicit tested whether lithium could ameliorate gentamicin-induced toxicity in OK and CaRHEK cells, and whether it did so by affecting drug uptake or not. systemic effect, we studied gentamicin-induced cell death in both OK cells and CaRHEK cells in the presence or absence of the clinical target concentration of LiCl (1mM). XI inhibited (500µM) gentamicin-induced cell death in CaR-HEK (Figure 7A) and OK gentamicin concentrations, the drug elicits significant apoptotic cell death in CaR-HEK We also demonstrated a protective effect of lithium on gentamicin-induced cell also inhibited gentamicin-induced CaR-HEK and OK cell toxicity. Cotreatment with lithium ameliorates gentamicin-induced cell death in work_kmrngyvdovbm5dquigllam4fjm Risk factors for Toxoplasma gondii seropositivity in the Old Order Amish seropositivity and specific behavioural and environmental (including food-related) risk environmental (including food-related) risk factors of infection, while minimizing For the present study, we sent the Amish Toxoplasma Risk Factor Questionnaire AMISH TOXOPLASMA INFECTION RISK FACTOR QUESTIONNAIRE (ATRFQ) developing a study to assess Toxoplasma risk factors and foetal infection, morbidity, Seroprevalence and risk factors of Toxoplasma gondii infection in pregnant Seroprevalence of Toxoplasma gondii infection and associated risk Risk factors for Toxoplasma gondii infection in the United States. Seroprevalence and associated risk factors of Toxoplasma gondii infection in the Toxoplasma gondii infection in the United States: seroprevalence and risk factors. Bivariate Analysis of Associations (Unadjusted Odds Ratios) of Serostatus and Frequencybased Behavioural Risk and Protective Factors of Old Order Amish Participants, Toxoplasma gondii gondii Serostatus and Risk Factor Study, 2015-2016 gondii Serostatus and Risk Factor Study, 2015-2016 work_kmwaol43xnfjdarmpj5kmrvgye Background: A recent genome wide association study in 1017 African Americans identified several single diastolic blood pressures by other genome wide association studies in European and Amish populations. Adeyemo et al identified several SNPs reaching genome-wide significance for systolic blood pressure in or for each SNP with hypertensives as cases and normotensives as controls using PLINK association analyses. associations between SNPs that were tested and hypertension status (Table 2only additive model results are Quantitative trait analyses that included only hypertensive subjects (untreated and treated) showed no significant associations of blood pressure with any of the Multiple linear regression analysis did not show a statistically significant impact of any of the alleles or genotypes on systolic and diastolic blood pressure in all only, one SNP (rs12748299) showed a significant association with systolic blood pressure even after adjusting SNPs associated with hypertension and blood pressure work_knbyqj6cxbfl7db22ktmkbbqyu The increased numbers of genetic markers produced by genomic techniques have the potential to both identify hybrid We used restriction-site-associated DNA sequencing to identify a dense set of candidate SNP loci with fixed allelic differences between distinguished candidate SNPs from homeologs (paralogs resulting from whole-genome duplication) by detecting excessively high observed heterozygosity and deviations from Hardy–Weinberg proportions. We identified 2923 candidate species-specific SNPs from a single Illumina sequencing lane containing 24 barcode-labelled individuals. data and ongoing genome sequencing of rainbow trout will allow physical mapping of SNP loci for genome-wide scans and will also provide flanking sequence for design of qPCR-based TaqMan� assays for high-throughput, low-cost hybrid This study demonstrates that it is now feasible to identify thousands of informative SNPs in nonmodel species quickly and at reasonable cost, even if no prior genomic information is available. WCT to use in further RAD sequencing studies to examine the genomic patterns of selection and introgression work_kpf7atny2rfvjiwnovaidvndry olecular origins of pacemaker automaticity to the anaomic and physiologic mechanisms of macroscopic propaation of the sinus node impulse to neighboring atrial tissue. Editorials published in the Journal of the American College of Cardiology reflect the How does the SAN manage to take depolarizaion from a small group of cells into the entire atrial tissue? The slow conduction within the SAN supports unoupling as a mechanism of slow-but-safe propagation. ocalized cooling, observed that initial atrial activation sites iscrete conduction pathways connecting the SAN with acemaker cells, propagation within the SAN would fail due intracellular Ca2� clocks and surface membrane voltage clocks controls the timekeeping mechanism of the heart''s pacemaker. of the pacemaker tissues of the heart. Ca2� clock and membrane ion channel clock underlie robust initiation and regulation of cardiac pacemaker function. Relation to dynamics of atrial conduction, P-wave changes and heart rate control. ey Words: bradycardia y exit pathway y optical mapping y sinus node. work_kpq77jk3rvhr7nmyipzowuotqy physiologically more relevant three-dimensional (3D) cell-based high throughput drug screening (HTS) Evidence is provided to support the view that simplifying 3D cell culture affect the status of a cell, grouped along chemical, physical, and spatial and/or temporal products is that mimicking the in vivo microenvironment yields physiologically more relevant cells that provide physiologically more (b, d) Show muscle cells cultured on soft and stiff flat surfaces, respectively [20]. of them carry more weight and, as such, constitute the major driver in designing less complex cell-based HTS platforms? and/or nanofibers into the cell culture platform, surfaces and 3D cell cultures: in both cases, the Fcells whose phenotypes are altered by culture in [33] cultured tumor cells in a 2D Simplifying 3D cell culture platforms for HTS Biomarkers for simplifying HTS 3D cell culture platforms for drug discovery: the case for cytokines Biomarkers for simplifying HTS 3D cell culture platforms for drug discovery: the case for cytokines work_kqvusnyokvdxhceh6c5frdixs4 Treatment of advanced stage NSCLC with low dose gemcitabine and carboplatin in patients above age of 60 years: P2-296 Treatment of advanced stage NSCLC with low dose gemcitabine stage NSCLC is platinum doublet chemotherapy, one of the most active being Gemcitabineplatinum combination. more) having advanced stage NSCLC with low dose prolonged infusion Gemcitabine (350mg/m2 over 4 hours, Day 1 and Day 8) and standard dose Carboplatin (AUC-5, Day 1 only) repeated every 3 weeks for median overall survival was 11 months (range 1 34 months). were significant differences among patients treated by medical oncologists (group 1) and by others (group 2). Conclusions: We conclude that low dose prolonged infusion gemcitabine and standard carboplatin combination is an effective treatment for patients above the age of 60 years with advanced stage NSCLC. chemotherapy-naive patients with advanced non-small cell lung Conclusion: Weekly schedule of docetaxel and gemcitabine has modest activity in advanced NSCLC. work_ksiulcomyjfavgqx6gorvr5r5m sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219652044 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:38 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_kssqgnfjonew5ga4d6t4d6mnai restriction site associated DNA (RAD) sequencing to discover 20,772 SNPs present in Montana, USA, river otter generation sequencing � River otter � SNP � Population the face of harvest and habitat loss has led to the development of molecular tools, primarily microsatellite markers, to monitor otter population dynamics (e.g., Mowry monitoring river otter populations is the ease of collecting otter populations in Montana and across the species'' SNPs. We then excluded RAD loci where C2 samples had Within SNP-chip genotypes, each sample was run at least three times, and there 2004; Rannala and Mountain 1997) to test how well individual otters assigned to populations (Paetkau et al. microsatellite and SNP genotyping with variable quality DNA Discovery of 20,000 RAD--SNPs and development of a 52-SNP array for monitoring river otters Discovery of 20,000 RAD--SNPs and development of a 52-SNP array for monitoring river otters work_ksylcvhnbnh7jf2ejjowyebtpm Genetically isolated or founder populations have recently isolated population cohorts often provide the opportunity to recall subjects by genotype, access detailed genealogical records, obtain linkage to health records and variant was carried by approximately 4% of the individuals studied and reached genome-wide statistical significance with a sample size of fewer than 1,300. A prime example of how founder population characteristics coupled with linkage to medical records can accelerate discovery was recently produced by studying the provide a unique and powerful resource for the identification of low frequency and rare variants of direct detect a significant accumulation of rare variants at particular loci is further increased in founder populations as designing rare variant association studies. 3. Zeggini E: Next-generation association studies for complex traits. Cite this article as: Zeggini: Using genetically isolated populations to Complex trait locus discovery in isolated populations work_kt7ddadfufhkfdevelzbq6r7d4 We Really Do Have the Same Goals: The Push and Pull of One Community–Academic Partnership to Support Congolese Refugee Women to envisioning a Photovoice project with refugees, Our community partner was a non–profit organization dedicated to refugee resettlement. During the course of the project, that initial executive director left the agency, so it was inherited by of the project including working with our university''s Institutional Review Board (IRB). of the project for the community partner and the times, it appeared our partner personnel felt grudgingly required to help us out. pay to do the extra work for the Photovoice project. community partner how much time and resources commencing the project, we needed to better communicate with the partner to identify one designated and committed staff person to be in charge partner organization, the timeline for our project the project again with the same partner. community partner agency. work_kwakyfpc7jhs5j75wyly3hd2te sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219634602 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:17 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_kxex7ijttfhj5hjgd7qj4g3oku associations between calcitriol use and survival have been extended to the predialysis chronic kidney disease (CKD) population,3 as have associations between low calcidiol levels and Low calcidiol levels associate with allcause mortality in the general population.5 The elevated mortality risk is perhaps due to an increased hazard for dialysis revealed that both high and low calcitriol levels associate with higher calcification scores.18 This latter study potentially suggests an optimal level of vitamin D exists that is neither too high nor too low. that low calcidiol levels associate with subsequent development of CAC. Low calcidiol levels were independently associated with a higher risk for developing CAC. for developing incident CAC, but for each 10 ng/ml lower calcidiol level, the risk was 1.23 (95% CI 1.00 to 1.52; P � 0.049). the effect of low calcidiol levels and risk for CAC also did not work_kz56svpqz5ad3jlz5npu6czgoy sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219650438 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:36 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_kzfqzopqtvdp3no6b4op34jxgi N-glycosylation is essential for ileal ASBT function and protection against proteases HEK-293 cells stably transfected with ASBT-V5 fusion protein. Further, ASBT function and expression are increased in diseases that are associated with bile acid The current studies were focused at investigating the mechanisms by which glycosylation affects ASBT function and data suggest that hyperglycemia-induced changes in the glycosylation may underlie the increase in ASBT function and bile We have generated HEK-293 cells that express ASBT-V5 fusion protein in higher band is the mature N-acetylglucosamine rich glycosylated ASBT protein. glycosylated ASBT protein (upper band). A: HEK-293 cells stably expressing wild-type ASBT-V5 fusion protein were stably expressing glycosylation deficient mutant ASBT (N10Q)-V5 total protein was extracted and separated by SDS-PAGE followed by Western blotting with glycosylated ASBT protein was significantly increased in response to incubation with 25 mM glucose. evidence showing that complex glycosylation of ASBT increases its protein stability on the plasma membrane. work_l25pqcwdgvh5njiivc6vsoe5fe Insights into metabolic disease from studying genetics in isolated the important contributions that studies in isolated populations The search for low-frequency and rare variants associated can offer power advantages in the study of complex trait genetics, especially with respect to the identification of association signals at low frequency, and rare variants that would turn increases the power of association studies as smaller sample sizes are required to detect individual risk loci for complex with the explicit aim of studying the genetic basis of metabolically relevant complex traits in the isolated population residing in the villages of the mountainous Mylopotamos region of variants in Greenland, Crete and the UK general population (UK10K Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes. genetic drift at missense and trait-associated variants. Insights into metabolic disease from studying genetics in isolated populations: stories from Greece to Greenland work_l3m6jitt2nakvf3b75ie4xapu4 sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219630460 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:12 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_l4e2pknucfd3him6rk2olvnr3u Generation of 3D Surface Models from Scanning Electron Microscope Images The study of host-pathogen interactions begins with the attachment of a bacteria or virus to a Scanning electron microscopy (SEM) provides a widely used tool to qualitatively determine surface changes that occur but is limited quantitatively as the resulting image is still a twodimensional output. Autodesk has created programs that utilize images from multiple The Autodesk programs are able to pick out similar points in the images and compare them These programs were primarily designed to collect images by physically moving a camera where the camera position is fixed and the specimen is either physically or raster rotated, tilted or number of images, capture settings, tilts and rotations to optimize the resulting models. (FIG 3) Once the positions of the images were determined by to generate images and create a model without expensive software or hardware, making the work_l7e6s5xjjrez3dcffje2smkysi levamisole in steroid-dependent nephrotic syndrome (SDNS) and frequently relapsing nephrotic syndrome FRNS children; (b) to compare the efficacy of levamisole the response of levamisole in SDNS/FRNS children postcyclophosphamide therapy. Efficacy of Levamisole in Children with Frequently Relapsing and From the Department of Pediatric Nephrology, Mehta Children''s Hospital, Chennai, India. syndrome and 35 children with steroid-dependent nephrotic Results: Levamisole was effective in 77.3% children with a better total of 34 children completed 1 year follow-up post levamisole frequently relapsing and steroid-dependent nephrotic syndrome. frequently relapsing and steroid-dependent nephrotic syndrome. daily and alternate day levamisole usage in children with SDNS -– Steroid-dependent nephrotic syndrome; FRNS – Frequently dose steroid therapy can be effective in children with • Daily levamisole along with initial low dose steroid therapy can be effective in FRNS/SDNS children with a better • Cumulative dosage of steroids reduces with levamisole therapy in FRNS/SDNS. nephrotic syndrome children with frequent relapses and/or work_lax3idzzvbc7bnybg7td7ahgx4 the Anabaptist Genealogy Database and contribute mutation rate estimates for several commonly used Y chromosome STR markers. (YSTR) genotypes, (1) evaluate the accuracy and completeness of the Lancaster County Old Order Amish (OOA) genealogical records and (2) estimate YSTR mutation rates. to calculate mutation rates in Y chromosome STR markers: large pedigrees with males connected through common male lineages with observed/inferred meioses and ''deep rooting'' Canadian pedigrees for 9 STRs and estimated individual marker mutation rates ranging from 0 Because two lineages with no genealogical, historical or surname evidence of relatedness shared the same apparent nine marker founder haplotype, we sequenced in a subset of Putative founder Y STR haplotypes: Lineages are rank ordered by number of male individuals genotyped b Number of individuals in lineage genotyped in initial genome scan; includes those with mutations but excludes apparent pedigree work_lfgeypyrnnettck37oof2fnbkq surrounding modern home schooling, noting variations in state regulations and curriculum options, in 1827 was the first state to require that educators hold a teaching certificate (Cubberly 1919); widely prevalent; complementary to the constitutionally mandated state responsibility for education, compulsory attendance laws were instituted. Another case often cited for limiting state regulation of school attendance actually also strongly legal precedence for home schooling as an education option with the 1978 decision in Perchemlides could not be interpreted to prohibit home schooling, but it did not rule whether in fact the state All states require public school teachers to hold by tests of questionable value, forcing those currently home schooled into public education might states do not even require home schooling parents Home Schooling Requirements by State case that every state permits home schooling The lack of consistent mathematics requirements and assessment for home-schooled State law, nor shall any home schooled work_lhv56i47rrbsbag7be6kfoukqi Mutation of HERC2 causes developmental delay with Angelman-like features mechanism underlying a number of genetic disorders.1 Sequences homologous to the HERC2 (HECT Twenty-four hours after transfection, 30% of the cells were lysed under non-denaturing conditions to determine expression levels of E6AP, p.Ile53Ser Ring1B known HERC2 interacting proteins such as E6AP or XPA, or the of the p.Pro594Leu HERC2 mutant (figure 2B) indicating that p.Pro594Leu HERC2 substitution on E6AP E3 ligase activity. stimulate E6AP-mediated ubiquitination of Ring1B in a dosedependent manner (figure 4), however mutant HERC2 was and may not in itself be functionally significant, the dosedependent nature of HERC2 on E6AP activation is likely to HERC2 RLD2,10 whereas the variant reported here affects mutation on HERC2 protein levels, which likely relate to The modest effect on E6AP stimulation associated with the HERC2 p.Pro594Leu mutation described here Figure 2 (A) Levels of HERC2 are diminished in fibroblasts from affected individuals. work_ljfplaq5irfcdewmnt3x5rxtlq a. Supplementary Table 1a: Study Design and Sample sizes Page 21 g. Supplementary Table 6: Expression Associated SNP Analysis Page 39 prospective population-based cohort study to investigate the etiology of atherosclerosis. comprised of a family-based cohort embedded in the Genetic Research in Isolated Populations Generation cohort was enrolled (n=4095).16 Participants for the current study include individuals study on the Dalmatian island of Korcula.18 Data for participants aged 18 years and over were Family Heart Study: This research was conducted in part using data and resources from the NSPHS: The Northern Swedish Population Health Study was supported by grants from the The genome-wide association study was funded by NIA grant Environment-Association Studies (GENEVA) under the NIH Genes, Environment and Health NIH contract "High throughput genotyping for studying the genetic contributions to human Supplementary Table 3 Genome-Wide Significant Loci: SNP Association Across Renal Traits in Stage 1 Discovery and genome-wide association studies. work_lji673kzszf5ncaphne47uodc4 mutations that increase renal salt balance lead to higher blood pressure, suggesting that mutations that decrease the net We hypothesized that the mild salt wasting of Gitelman''s syndrome results in reduced blood pressure In addition, the NCCT genotype was a significant predictor of blood pressure, with homozygous mutant family members having significantly lower ageand gender-adjusted systolic and diastolic blood pressures than 24-hour urinary Na1 than did wild-type subjects, reflecting a self-selected higher salt intake. children, but not adults, had significantly lower blood pressures than those of the wild-type relatives. provide formal demonstration that inherited mutations that impair renal salt handling lower blood pressure in humans. significant (P50.002), with genotypically affected individuals having ageand gender-adjusted diastolic blood pressures Effect of NCCT mutations on blood pressure. pressures for members of kindred K140 with different NCCT genotypes are shown. defective copies of NCCT have blood pressure that is significantly lower than that of their wild-type relatives. work_lm2e2shtafhldecy6o666ca25y sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_lmubd77xlrcszcda7cm2k42tue sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219631068 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:13 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_lo6f3jrk2bagzhn5c2b6etvra4 sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_lotn67y6sjfaheb7bz5rf6j2yi Retrograde Coronary Venous Ethanol Infusion for Ablation of Refractory Ventricular Tachycardia in canines showed feasibility and effective myocardial ablation.17 We have reported feasibility in humans and acute procedural success of RCVEA in 2 cases.18 The venous approach hypothesized that retrograde coronary venous ethanol ablation can be an alternative bail-out approach to failed VT RFA. 98% ethanol into a septal branch of the anterior interventricular vein in 5 patients with left ventricular summit VT, a There were no complications of retrograde coronary venous ethanol ablation, but 1 patient Conclusions—Retrograde coronary venous ethanol ablation is safe and feasible as a bail-out approach to failed VT RFA, Mapping of septal branches of the anterior interventricular vein (AIV) in a patient with left ventricular (LV) summit premature Septal vein mapping and ethanol ablation of LV summit premature ventricular contractions (PVCs). Posterolateral vein mapping and ethanol infusion in ischemic cardiomyopathy-related ventricular tachycardia (VT) in a patient work_lpformor4zczzejsqd2nnkh4au We used targeted resequencing to identify SNP markers in 5321 candidate adaptive genes associated with known immunological, metabolic and growth functions in ovids and other ungulates. We selectively targeted 8161 exons in protein-coding and nearby 50 and 30 untranslated regions of chosen candidate genes. The bighorn sheep sequences used in the Dall''s sheep (Ovis dalli dalli) exon capture aligned to 2350 genes on the oviAri3 genome with an average of 2 exons each. qPCR-based SNP chip to genotype 476 Dall''s sheep from locations across their range and test for patterns of selection. natural selection on nine genes with immune and disease-regulating functions (e.g. Ovar-DRA, APC, BATF2, Keywords: candidate genes, exon capture, next-generation sequencing, Ovis dalli dalli, population genomics, SNP chip the fully sequenced genomes of model species (e.g. domestic sheep; Dalrymple et al. Table 3 SNP loci identified as potentially under selection for Dall''s sheep using FST outlier and environmental correlation tests. work_lpkcpt3g5jardnodqhb5pmy444 Se describe el caso de una paciente joven con una enfermedad hepática diagnosticada como colestasis intrahepática familiar progresiva tipo 3, seis años luego de su debut clínico, basado en los hallazgos de mutaciones en genes que codifican para proteínas encargadas del transporte hepatocelular presentación clínica, los hallazgos de laboratorio, la histología hepática y el defecto genético, proteína de colestasis intrahepática familiar 1); Principales características de los 3 tipos de colestasis intrahepática familiar progresiva. CIFP: colestasis intrahepática familiar progresiva; ALT: Alanina aminotransferasa; VN: Valores normales ; con CIFP 3 cursan con niveles altos de gama-glutamil-transpeptidasa, ácidos biliares y transaminasas, con niveles de colesterol normales o poco elevados. El prurito es leve y la colestasis puede acompañarse o no de ictericia. Colestasis intrahepática familiar progresiva tipo 3. Colestasis intrahepática familiar progresiva tipo 3. Colestasis intrahepática familiar progresiva tipo 3. Colestasis intrahepática familiar progresiva tipo 3. Colestasis intrahepática familiar progresiva tipo 3. work_lprjiasxlfcr3dumcuhn3hwkfi Determinants of Coronary Artery and Aortic Calcification in the Old Order Amish Background—Coronary artery calcification (CAC) is associated with an increased risk of cardiovascular disease; little is Methods and Results—The presence and quantity of CAC and AC were measured with electron beam computed tomography and fasting blood tests and cardiovascular risk factors were obtained in 614 asymptomatic Amish subjects. CAC prevalence was higher in men than women (55% versus 41%; P�0.0001), although there was no sex difference Conclusions—CAC and AC have similar risk factors, except male gender is associated only with CAC and age is more Key Words: aging � aorta � atherosclerosis � coronary disease � epidemiology � genetics � imaging Noninvasive imaging of coronary artery calcification (CAC) can be used to assess cardiovascular disease (CVD) risk, especially in intermediate-risk Ageand sex-adjusted associations of each risk factor with CAC and a multivariate analysis in which all risk factors significantly associated with CAC or AC in the ageand work_lqmdrhg33nds5g733bvt2ehi2i Book reviews text, which effects if they occur are mi lesions, lumbar discs, and brain death, should interpretation of clinical signs and investigations, or occur as a result of the operative The first chapter is an excellent review of operative procedure in these patients with The next chapter provides helpful information on spinal intramedullary tumours, than nociceptive pain and whereas mechanisms of pain with an intact nervous system have been extensively investigated, mechanisms of neuropathic pain are poorly understood, and have received much less attention. these mechanisms of neuropathic pain and with treatment, but also considers peripheral nociceptive mechanisms and cancer pain, editor, Fields, opens with a succinct overview of pain transmission in the normal and damage may lead to more pain. mechanisms of pain. place of surgery for pain, both of nociceptive Portenoy considers cancer pain, in which the chronic pain. In fact, bypassing the refereeing process is work_lsdib7mjvngcho3utyimjxcv7a leg that future medical genetics will genetic differences between the links between genes and diseases use small, inbred populations and those based on large populations. One large-scale study is being from the Medical Research Council for a major long-term study of benefit of studying small genomics research have emerged in remote Italian villages such as looks at some of the plans to study a variety of European populations Iceland cometh: Local people celebrating human genes and common diseases through the establishment of a national genetic villages to the forefront of genomics research is Mario Pirastu, a native small inbred populations which absent and thus cannot be studied large-scale, nationwide genome Sardinian villages, Iceland has database, after a year-long public Iceland''s genome project with larger meaningful genetic studies. database of medical, genetic and sensitive information on 1.3 million arising from such large projects. While the village-sized projects of the villages under study throws work_lss4ehjtmbbkhl7arbar5nnvjy sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219647112 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:32 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_lu2a2zm64jeh5o7nmxvofvceh4 tions for screening the general population aged 45 years for diabetes every years to assess the diabetes screening practices in this population. Table 1—Characteristics of respondents aged 45 years reporting screening for diabetes in a p p roach for the diagnosis of asymptomatic diabetes in patients with cystic fib rosis are pre s e n t e d . diabetic CF patients with normal HbA1 c, obesity observed in type 2 diabetic patients the other hand, patients with type 2 diabetes had significantly lower insulin secretion (212 ± 85 pmol l 1 m i n 1, P = insulin sensitivity in diabetic subjects. and glucose effectiveness in type 2 diabetic and glucose effectiveness in type 2 diabetic both of which can be safely used by diabetic patients during exposure to moderately high altitudes. patients with type 2 diabetes who were c o n t rol in patients with type 2 diabetes. work_lx67evu2zfa5xegilkmdb46tkm Antifreeze protein hydration waters: Unstructured unless bound to ice motifs that can confer AFPs with their ice-binding of IBS, and how do they enable AFPs to bind ice? and lattice matching could help AFPs bind ice, they waters enable AFPs to bind to ice and, if so, how? called the anchored clathrate (AC) motif, the AFP uses both hydrophobic and hydrophilic groups on its IBS to bind ice (19). AC motif, water molecules adopt a highly ordered structure, forming a clathrate-like shell around the hydrophobic groups of the IBS AFPs, which then enables the proteins to recognize and bind ice These results suggest that a preordering of their hydration waters is not needed for ice recognition (A) AFPs have evolved to recognize and bind ice in a vast excess of water. (2018) Preordering of water is not needed for ice recognition by hyperactive antifreeze proteins. work_lxcgv2nw6jfutehkec235dezve Care for Amish and Mennonite children with cystic fibrosis: a case Methods: We present data regarding the 12 Amish and Mennonite patients at the SUNY Upstate Medical University Pediatric Cystic Fibrosis Center and three representative case reports. Results: Families of patients from these communities receiving care at our Center have accepted Conclusion: Amish and Mennonite families seeking care for cystic fibrosis may choose to utilize these patients can be receptive to modern medical therapy, including preventive measures, which can greatly patients described in the case reports and their community elders reviewed and approved this manuscript prior community to assume that Amish and Mennonite families are unwilling to allow preventative care, as well as Nonetheless, it is evident that Amish and Mennonite families can be open to effective, modern therapy for this disease. needed in order to address medical bills incurred by uninsured Amish and Mennonite patients with chronic disease work_m2logeoy4zctnhdm6s7hmfz2mu sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_m2ztoa72s5fnzixi4lmvan2fom evolution controversy has been the proposal to institute optout policies that would allow creationist parents to exempt play in the debate over evolution and the nature of science, evolution is taught properly, it should not be possible to opt Design creationist criticisms of evolution and scientific allow creationism to be taught in a science class, but given question of opt-out policies specifically including evolution help instructors teach about evolution and science in Evolutionary Science and Society: Educating a New a scientific controversy about evolution as creationists claim. Evolution is a science, not a religion, and when to accept the creationists'' way of framing evolution and not view in a paper about the teaching of creation and evolution for allowing a student to opt out of evolution, but his idea http://www.cbc.ca/canada/calgary/story/2009/04/30/cgy-bill-evolution-law-alberta-classes-teachers.html http://www.cbc.ca/canada/calgary/story/2009/04/30/cgy-bill-evolution-law-alberta-classes-teachers.html http://www.cbc.ca/canada/calgary/story/2009/04/30/cgy-bill-evolution-law-alberta-classes-teachers.html On teaching evolution and the nature of science. Learning evolution and the nature of science using work_m4mlbbpw4vhbxgiybp3uzzogni sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219647227 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:32 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_mapglrvginc6zk4kbvknj3m5bu The literature strongly suggests that daily physical activity is genetically and biologically regulated. of activity in hunter/gatherers, pretechnology farmers, and modern Western societies and considers the potential of each to between pretechnology farmers and hunter-gatherer populations does not show significant differences in daily energy have been a selection pressure in the evolution of physical activity control mechanisms, comparisons of required daily activity (i.e., duration of activity) in nontechnology dependent Table 1: Physical activity energy expenditures of various hunter/gatherer populations. Table 2: Physical activity energy expenditures of various agricultural populations. Figure 3: Potential selection pressures on activity regulation in humans and possible future effects of food abundance. hypothetical—explanation of the selection pressures influencing the evolution of physical activity regulation. W. Rowland, "The biological basis of physical activity," Medicine and Science in Sports and Exercise, vol. and environmental influences on level of habitual physical activity and exercise participation," American Journal of Epidemiology, vol. physical activity," Journal of Nutrition, vol. Physical Activity and Health, vol. work_mb6c47pnnzhdxbnyc52bsf3edm Study 4 replicated the effect of moral identity on the states of elevation as well moral identity, witnessing uncommon goodness, and prosocial behavior. also showed that moral elevation led some White study participants (those high in social dominance orientation, or SDO) to to acts of uncommon moral goodness, we make an important theoretical refinement to Aquino et al.''s (2009) social cognitive model by the specific case of peoples'' responses to witnessing an act of uncommon moral goodness, we hypothesized that the internalized facet whether moral identity interacts with exposure to an act of uncommon moral goodness to predict emotions and thoughts associated that people who are high rather than low in moral identity internalization would be more likely to recall witnessing an act of followed by measures of moral elevation and various prosocial behaviors they might have engaged in as a result of witnessing the event work_mbl6t6ds7rdxnp4frwsybbenha Demytholization in Amish Tripathi''s " Scion of Ikshvaku" ABSTRACT In this research paper titled "Demytholization in Amish Tripathi''s Scion of Ikshvaku, I am going to talk about Amish Tripathy''s demytholization observed in Scion of In Amish Tripathy''s series on Lord Shive and Ram are the examples of Ram and Krishna are two characters of the two great epics of India that have universal appeal of the Ramayana story inspired many poets of different regions, languages and sects to Amish Tripathi is the latest addition to Rama story. Key words: Ramayana, Ram''s journey, demytholization, Avatar, deviations. word Ramayana can be translated as ''Ram''s Ramayana on life and thought of the people. Ram is regarded as the avatar of Lord Vishnu in Amish describes Ram''s birth Ram won the test and also the hand of Sita Amish''s version is different as However, the story of Ram work_mefs2makyzgunc4iept5aozrwu gene sequencing, the authors identified the homozygous mutation c.1411-2A > G in SAMHD1 being associated with this entity. Although mutations in SAMHD1 have been found to be diseasecausing in Aicardi–Goutières syndrome (AGS) (2), Xin et al. and cerebral vasculopathy in patients with AGS carrying mutations in SAMHD1 (4, 5). present a new clinical condition but described a heterogeneous group of Old Order Amish individuals with AGS and intracerebral arteriopathy. common phenomenon in patients with SAMHD1 mutations. This work was supported by a grant from the Interdisciplinary Center for Clinical Research Münster (to M.d.M and F.R.). (2011) Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke. (2009) Mutations involved in Aicardi-Goutières syndrome implicate (2010) Intracerebral large artery disease in Aicardi-Goutières syndrome (2010) Cerebral arterial stenoses and stroke: Novel features of AicardiGoutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with work_meu327xhajc5lbq6mm4y5gmgae cutthroat and rainbow trout species-diagnostic SNP assays the genetic effects of hybridization and introgression requires a large set of high-throughput, diagnostic genetic markers to Recently, we identified several thousand candidate single-nucleotide polymorphism (SNP) markers based on RAD sequencing of 11 westslope cutthroat trout and 13 rainbow trout individuals. we used flanking sequence for 56 of these candidate SNP markers to design high-throughput genotyping assays. Forty-six assays (82%) amplified consistently and allowed easy identification of westslope cutthroat and rainbow trout alleles as well as heterozygote The 46 SNPs will provide high power for early detection of population admixture and improved identification of method for developing and testing SNP markers for nonmodel organisms with limited genomic resources. Keywords: conservation genomics, hybridization, introgression, invasive species, microfluidic PCR, salmonids, SNP, Markers detecting low amounts of admixture in populations and individuals will provide an understanding of RAD sequencing identifies thousands of SNPs for assessing hybridization in rainbow and westslope cutthroat trout. work_mfz7ewui2zdldnllmh363gtxdm sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219653566 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:40 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_mgh43svcqvd4fauljpsnjw2dlq Rebuttal to "ezetimibe treatment should be considered atherosclerotic renal artery stenosis as a cause for hypertension. He was subsequently diagnosed with sitosterolemia, a retention of both plant sterols and cholesterol in affected with elevated plant sterol levels (normal <1 %) at 2.7 % campesterol, 5.6 % beta-sitosterol and 0.5 % stigmasterol; picture of the patient and elevated serum plant sterols support sitosterolemia he was started on ezetimibe and resin colestid. Ezetimibe treatment resulted in a significant reduction in sitosterol and campesterol ezetimibe is beneficial for patients with sitosterolemia, close renal artery stenosis as a cause of hypertension in an adolescent patient. 2. Hu M, Tomlinson B (2014) Ezetimibe treatment should be considered Study Group (2004) Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia. in patients with sitosterolemia. in patients with sitosterolemia. Pediatrics, Division of Nephrology, Cincinnati Children''s Hospital, e-mail: Elif.Erkan@cchmc.org Rebuttal to "ezetimibe treatment should be considered for patients with sitosterolemia" work_mgopboypojfrnjujsju4c2b264 CW is supported by the Swiss National Science Foundation (31003A_141242 TG levels displayed lower ApoC3 plasma levels and reduced risk of CVDs. increased HDL levels in loss-of-function ApoC3 carriers. between loss-of-function of ApoC3 with reduced TG levels and increased HDL demonstrated an association of TG levels and CVD risk and then determined low TG levels, were also predictive for lower risks of CVD. In conclusion, the two NEJM studies nicely demonstrated the impact of a TGmodulating protein (ApoC3) on CVD risks but, as in most observational TG levels causally determine CVD risks, as the authors in fact carefully a new observational study reports that low HDL levels predict earlier and reporting that HDL levels predict incidence of type 2 diabetes development. This study reports the association of mutations in the APOC3 gene that are 4. von Eckardstein A, Widmann C: HDL, beta cells and diabetes. observed between HDL levels and risks of developing such diseases. work_mirri7mforfg7ejaaue5cz7w7q the testes syndrome (SIDDT) by a SNP genome scan High-density singlenucleotide polymorphism (SNP) genotyping arrays containing high-throughput genotyping strategy for disease gene mapping DNA samples used in mapping and sequencing studies of SIDDT were acquired by the Clinic for Abbreviations: SIDDT, sudden infant death with dysgenesis of the testes syndrome; TSPYL, (A) TSPYL 457�458insG mutation status is indicated for available pedigree members (m denotes (B) Sequencing of TSPYL reveals a homozygous single base-pair insertion (457�458insG) in SIDDT TSPYL4 genes in the linked region on chromosome 6q22. and two-point LOD scores for each SNP are plotted to illustrate that information content of biallelic markers in small pedigrees alone make mapping TSPYL sequencing primers (in addition to the forward and reverse Accurate disease gene localization using the Affymetrix GeneChip Mapping 10K Assay Kit and the Silicon Genetics VARIA software package. Complete sequencing of the TSPYL gene in an affected Mutation of the TSPYL gene causes SIDDT. work_mldpr3getzcvtaypanttusoby4 gain in farm net worth from application of workshop tools ranged from approximately $5,000 The financial training workshops initially used satellite down-link presentations that would be coordinated locally by an on-site extension agent. analysis," "farm home budgeting," "strategic planning," and "fixing broken finances." The workbook was prepared for a ninth-grade reading level FSA/USDA Financial Management Training Participants Evaluations, 1994-99 change in knowledge levels, and perceived potential impact of the training on net worth accumulation (table 3). Table 5, Evaluation Results from 1998-99 FSA Finance Workshops by Gross Sales Evaluation Characteristics from 1998-99 FSA Finance Workshops by Cluster Logistic Regression Odds Ratio from 1998-99 FSA Finance Workshops by Cluster Change in the knowledge level of farm financial plans Change in the knowledge level of farm financial plans 1,82-to1.0 that members of the High Finance cluster would have 6–10 years of farm management work_mlu76lpwtngzrbxuv5w2dqchz4 Ji-Hwan Kwon , Naheed Ferdous , Amish Shah , Zuhuang Chen , Eric Breckenfeld , Using these techniques it is possible to produce exotic new phases that do not exist in the bulk, [ 20,21 ] synthesize artifi cial heterostructures, [ 22,23 ] and control materials at (110)-oriented substrates (where complex and disordered structures are observed, Figure S3, Supporting Information). nano-area electron diffraction (NAED) (Figure 2 b) were completed to assess the atomic structure of the phase (see Supporting Information for details). b) HAADF-STEM image of the resulting fi lm of eutectic composition (21 mol% SrO/79 mol% TiO 2 ) grown on a SrTiO 3 (111) substrate. in the NAED studies well, suggesting a good initial understanding of the structure (Figure S5c, Supporting Information). the novel, layered phase as compared with the SrTiO 3 substrate Z-contrast STEM image of the same area of the novel layered phase confi rming excellent matching of the extracted structure. work_mlx3bmp6dncvlfrwjdhjufdaci combined vaccine products, and animal derived gelatins Keywords Measles � Vaccines � Religion � Faith � MMR paper is to describe the religious objections as they specifically relate to the measles vaccination. manufacturing/production of the MMR vaccine, measles Among the Jewish branches, Orthodox Jews have experienced the greatest number of documented measles outbreaks due to declining vaccination rates within specific Both measles vaccine formulations contain trace bovine components [7, 8]. use of the measles vaccine confers protection to individuals, their children, and the population against disease. have objections to the use of the measles vaccine except for possible concerns with components of the vaccine originating from aborted fetus tissue. including but not specific to the measles vaccine. religious and philosophical beliefs related to the acceptability of the measles vaccine. vaccines which contain the measles Religious Views on the Use of Measles Vaccination Religious Views on the Use of Measles Vaccination work_mmobajgbqbgnfjaqjlo4walfw4 "Prince Edward Island''s unique ''brotherly love'' community": Faith and Family, Communalism and Commerce in B. – a utopian community on Prince Edward Island – briefly became an object of Ruth Compton Brouwer, "''Prince Edward Island''s unique "brotherly love" mid-20th century, former members and descendants of the Compton community so people still living with personal memories of the Compton community. establishment across North America in the late 1960s and early 1970s of many shortlived hippie or counter-cultural communities.5 Although Canada had its share of "Burned-over District" of New York state – the Compton community shared with 15 The 1841 census for Prince Edward Island shows William Compton and three sons settled on of their fellow Islanders, Compton community members'' schooling was confined to 38 Enid Charles and Sylvia Anthony, "The Community and the Family in Prince Edward Island," Edward Island''s "unique ''brotherly love'' community" was history. As early-20th-century millenarian utopians, Compton community members held work_molukafttrfwvbfqejkgymdixm [PDF] A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. Corpus ID: 17331046A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. title={A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.}, ''Salt & Pepper'' syndrome is an autosomal recessive condition characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation. ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation Semantic Scholar is a free, AI-powered research tool for scientific literature, based at the Allen Institute for AI. work_mpe4k2d65vdilbl57u4oysraey sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219634632 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:17 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_mqertslsgbblvje6u4r4phpzmq A system was developed in which subtractive and kinetic enrichment was used to purify restriction endonuclease fragments present in one population of DNA fragments but not in another. resulted in the isolation of probes to viral genomes present as single copies in human DNA, In RDA, we lowered the DNA complexity of both tester and driver genomes by call "amplicons"; DNA cleaved with relatively infrequent cutting restriction endonucleases was ligated to oligonucleotide Add primer, PCR amplify Agarose gel electrophoresis of difference products of Bgl II amplicons, obtained after Unear amplification 5 ng of purified viral DNA ligated to adaptors (primer set 1; see Table 1). Tester DNA amplicons (lanes a, e, and i) and difference products, after the first (lanes b, Driver and tester amplicons were prepared from human lymphoblastoid cell cultures preparation of tester amplicons and DNA In preparation for the hybridization and amplification step, fragments of tester amplicons were work_mqtzdqegkbepfdxfxvzgqcybza These data exclude USF1 as a major contributor to type 2 diabetes susceptibility and the basis for frequently sampled intravenous glucose tolerance test; LD, linkage disequilibrium; MAF, minor allele frequency; SNP, single nucleotide polymorphism; USF1 variation on type 2 diabetes risk and related metabolic traits, making explicit use of populations and samples selected because of their prior evidence for linkage to case-control sample, analyzed using family-based association methods. 832 Pima samples include 570 type 2 diabetic subjects (diagnosed before age 1. Single-point case-control association analyses for the USF1 gene region. (for USF1, F11R, and ARHGAP30), the SNPs typed, and those associated with FCHL or triglycerides (Pajukanta et al. the case-control association P values for the four samples from European descent. SNPs (from rs4339888 to rs1556259) showed no association with type 2 diabetes in any of the populations studied Single SNP analyses for association with type 2 diabetes for all seven samples combined work_mrhlu53xp5hljbb2fkoxjamxda Objectives: The purpose of this study was to examine the injury risk patterns among Amish children, many of Methods: With IRB approval, we performed a retrospective review of Amish patients age ≤ 12 years presenting to a Results: One hundred eighty-three Amish children were admitted, and 2 died from injuries. with animal-related injuries associated with the longest LOS (3 days; IQR 1–4.75). Conclusions: The majority of injuries among Amish children are due to falls. Keywords: Amish, Injury, Trauma, Pediatric One study focusing on the pediatric Amish community specifically, identified falls as the leading cause of Mechanism of injury (MOI) for ICU patients included falls (n = 21; 41.2%), of which 7 (13.7%) were pediatric Amish trauma, our study identified hay hole falls source of trauma, animal-related injuries result in a longer length of stay, identifying another potential area for Hay hole falls and animal-related injuries result A study of trauma in an Amish community. work_msvp3qvhingjrp3xjryxmjzes4 In this paper, we examine the phenomenon of ''clustering of exemptions'' to childhood vaccination, and Given the growing number of exemptions and the increasing visibility of the antivaccine movement, policy makers must be vigilant for dangerous clustering in order to avoid loss of herd Keywords: Clustering of exemptions; Herd immunity; Vaccination exempted from mandatory vaccination are protected through herd immunity. proportion of people who seek exemption to mandatory vaccination is higher in a particular locality than some individuals to seek exemption to mandatory childhood vaccination, there is a danger of clustering personal views create a willingness to seek exemption to mandatory childhood vaccination often live, as percentage of people exempted from mandatory childhood vaccination is only 0.64% nationally, Utah group" for seeking exemption to vaccination (unlike the students in Schelling''s example), but instead will to the population as a whole) to seek exemption to childhood vaccination. work_mswky5zppfgqldgb7g6f36rthq sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219630557 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:12 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_msxl2u2kc5aoja6idaufwya47e (PKR), limits late viral protein synthesis and replication of 134.5 viruses. protein product encoded by the HSV 134.5 gene that counters this host antiviral response, the review this defense is protein kinase R (PKR), which limits viral gene expression and replication in human encoded within the 3'' gene domain, blocks host PKR-mediated protein shutoff during infection thus allowing continued late viral protein synthesis in infected cells [13]. In contrast, viruses capable of PKR evasion and late viral protein synthesis In tumor cells infected with recombinants capable of late viral protein synthesis, gD virus capable of continued viral protein translation in infected SK-N-SH cells [33]. The progeny virus expressed US11 earlier in infection, exhibited a wildtype protein synthesis phenotype, and was found in in vivo studies to partially restore HSV protein of herpes simplex virus type 1 is required for viral response to interferon but is not work_mufhtulxpzgsrkexngcwnlgadm The paper defines altruism as charity. The second section of the paper criticizes three rationalistic (what is called ''''interactional'''') theories of altruism, viz., the egoistic, egocentric, and The fourth section elaborates on three implications of altruism qua charity. On August 5, 1991, an Amish family of 10 members was traveling on a horsedrawn buggy on a north-central Ohio road. The act of charity by anonymous donors can, but with some difficulty, find an accommodation in the Homo economicus house of neoclassical economists. The difficulty originates from the fact that the tools of neoclassical economics have not been originally developed to account for anonymous donation. existing theories, heightened by the view of altruism qua charity – as illustrated in of the ramifications, discussed in the paper, of the view of altruism qua charity: out of altruism qua charity. 98 E.L. Khalil / Journal of Economic Psychology 25 (2004) 97–123 work_murbu5kkwfa7hgaat3xgny46xe Novel autosomal dominant TNNT1 mutation causing nemaline myopathy http://osc.hul.harvard.edu/dash/open-access-feedback?handle=&title=Novel%20autosomal%20dominant%20TNNT1%20mutation%20causing%20nemaline%20myopathy&community=1/4454685&collection=1/4454686&owningCollection1/4454686&harvardAuthors=2665558521538cebe188cf8fe492d3c1&department Mutations in troponin T1 (TNNT1) is 1 of 10 genes known to cause NEM. performed RT-PCR and immunoblot on muscle to assess TNNT1 RNA expression and protein levels in proband and father. Analysis of TNNT1 mRNA splicing and troponin T1 protein expression in nemaline myopathy patients harboring 311A>T mutation. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. TNNT1 Mutation Causing NEM C. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. TNNT1 Mutation Causing NEM C. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. TNNT1 Mutation Causing NEM C. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. TNNT1 Mutation Causing NEM C. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. TNNT1 Mutation Causing NEM C. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. TNNT1 Mutation Causing NEM C. work_mwftuazjdrct7pj6izrc2i4gu4 sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219630463 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:12 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_mxtmh3gh5jcrhj624umwxao3pu MennoFolk: Mennonite and Amish Folk Traditions (review) MennoFolk: Mennonite and Amish Folk Traditions (review) Although Katz painstakingly charts the history of speakers of Yiddish and provides an excellent framework for understanding how the language emerged and grew, he is rather languages that surround it in every community. MennoFolk: Mennonite and Amish Folk Traditions. The forty-sixth addition to the Studies in Anabaptist and Mennonite History book series published by Herald Press, Ervin Beck''s MennoFolk: Mennonite and Amish Folk Traditions demonstrates that Mennonites and Amish constitute a religious faith with folk traditions that legends, protest songs, material culture, and Mennonite home has a family record book, and It shows how individual stories can be retold in differing versions with various understandings and interpretations, and it also explores humorous narratives. introduction to the Mennonite folk culture When we consider the 1960s, our attention cannot help but be drawn to urban and contemporary legends. work_mylvdsxkhbfupfk2scdyfikpiy has advanced our knowledge of psychosocial influences on food habits, nutritional adequacy, and overall health. Key words: diet, culture, religion, ethnic groups, health behaviors between food habits and cardiovascular diseases in different national groups; case-control and cohort studies on the epidemiology dietary and other health behaviors in cultural and religious groups their initially low colorectal cancer risk has increased in conjunction with the population''s dietary transition from a typical Japanese diet to a more western one .x5 A recent report on the effect of Assessing dietary intake in heterogeneous populations in national surveys poses many methodologic, statistical, and interpretive issues.37z42 Nonetheless, health professionals in any multicultural society must be aware of population demographics, cultural It has been observed that cultural-religious beliefs and practices can have a significant impact on health risks. DIET, LIFESTYLE AND HEALTH OUTCOME IN SELECTED RELIGIOUS GROUPS disease.37 Cultural, ethnic, and religious dietary habits are in work_mz6uc5synnflbaxmjq6fym4wt4 ordering in Cu1+xMn1�xO2 plays a very important role in determining the exchange constants and the magnetic structure.9 neutron diffraction studies have revealed the magnetic structure Fig. 2 Rietveld refinement of neutron powder diffraction data of CuMn0.95Fe0.05O2 at room temperature. observed on Fe doping, although the magnetic structure is the electronic structure on the magnetic properties of CuMnO2. Magnetic and optical properties of Fe doped crednerite CuMnO2 Magnetic and optical properties of Fe doped crednerite CuMnO2 Magnetic and optical properties of Fe doped crednerite CuMnO2 Magnetic and optical properties of Fe doped crednerite CuMnO2 Magnetic and optical properties of Fe doped crednerite CuMnO2 Magnetic and optical properties of Fe doped crednerite CuMnO2 Magnetic and optical properties of Fe doped crednerite CuMnO2 Magnetic and optical properties of Fe doped crednerite CuMnO2 Magnetic and optical properties of Fe doped crednerite CuMnO2 Magnetic and optical properties of Fe doped crednerite CuMnO2 Magnetic and optical properties of Fe doped crednerite CuMnO2 work_mzdjefek5zh6riz4jjdmvmxwpm [PDF] Responsibilities of Data Monitoring Committees | Semantic Scholar Corpus ID: 52303889Responsibilities of Data Monitoring Committees Background: A data monitoring committee (DMC) has special responsibilities for protecting the safety of clinical trial participants. [...] Key Method All members of the group have formed, served on, advised, or worked with DMCs. Results: The group outlined the objectives and mechanics of running a DMC, including operational and practical considerations, membership characteristics, roles, members'' liability, and indemnification. Tables and Topics from this paper Clinical Trial Independent Data Monitoring Committee Charter Demets, +15 authors S. On independent data monitoring committees in oncology clinical trials. View 2 excerpts, references methods View 2 excerpts, references methods Data monitoring in clinical trials Data Monitoring Committees in Clinical Trials Data Monitoring Committees in Clinical Trials: A Practical Perspective. View 3 excerpts, references methods and background View 3 excerpts, references methods and background View 3 excerpts, references methods and background work_n2dej6g76fhpbiyfvs7sdev7ie [PDF] A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder | Semantic Scholar Corpus ID: 9809389A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder title={A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder}, BackgroundTo elucidate the genetic basis of a novel neurodegenerative disorder in an Old Order Amish pedigree by combining homozygosity mapping with exome sequencing.Methods and resultsWe identified four individuals with an autosomal recessive condition affecting the central nervous system (CNS). Neuroimaging studies identified progressive global CNS tissue loss presenting early in life, associated with microcephaly, seizures, and psychomotor retardation; based on this, we named the condition… Expand Identifying The Role Of The Type-Ii Transmembrane Serine Protease Tmprss13 In Breast Cancer By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_n2i5vcsa4vdmhlanvii7gu4ccu sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_n4ndazoz7jeizna4f2fyrrqhpm sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219650868 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:37 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_n5rzagndlnedrhwtvzoapoob7q Whole-genome association study identifies STK39 subjects and found strong association signals with common variants in a serine/threonine kinase gene, STK39. blood pressure � essential hypertension � genome-wide association study � genome-wide association (GWA) analysis in the Old Order Amish, 542 subjects of the Amish Family Diabetes Study (AFDS) (Table 1) (4). of Amish subjects to determine the effect size of this association, we Whole genome association scan results for SBP in 542 AFDS subjects. (A) Exonic structure, association between STK39 SNPs and SBP/DBP. Significance levels of association to SBP are shown along with genetic models. the same direction as in our Amish studies, the STK39 association HAPI, GenNet, and Hutterites), STK39 SNPs were more significantly associated with SBP under the recessive model than under subjects), and their association with BP vanished when the genotypes of another SNP from either bin were included as covariates associated with hypertension in the DGI subjects (P � .05; data not work_na5wx5h3abdz3gycwrgesskk2y Familial hypertrophic cardiomyopathy (HCM) is usually caused by autosomal dominant pathogenic mutations in genes encoding All patients with biallelic truncating pathogenic mutations in MYBPC3 reported so far (n = 21) were diagnosed with severe truncating pathogenic MYBPC3 mutations cause severe neonatal cardiomyopathy with features of left ventricular noncompaction Abbreviations: ASD, atrial septal defect; ECG, electrocardiography; HCM, hypertrophic cardiomyopathy; IVS, intraventricular septum; LV, left ventricle; LVNC, left ventricular noncompaction; to compound heterozygosity or homozygosity for pathogenic truncating mutations in the MYBPC3 gene. cMore severe HCM and a higher incidence of myectomy compared with patients with single pathogenic MYBPC3 mutations.15 Few neonatal cases with severe cardiomyopathy owing to homozygous or compound heterozygous truncating pathogenic mutations MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India. Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects work_nccegy3ysvaznaimw2r6myoxjm model that integrates fertility decisions, advances in household technology, and changes in wage the "baby boomers," had completed fertility rates as high as women born in the late nineteenth century. technology, combined with existing county-level census data on fertility and other household 9 Three parameters determine fertility trends in the GSV model (2005: 205): (1) the state of household technology, census volumes for the 1940 to 1960 period.19 We supplemented these data with publiclyavailable, county-level economic and demographic information collected by Michael Haines may affect both fertility rates and the state of household technology, X includes median years of (including women''s labor-force participation), unobservable state-level changes, and timeinvariant county-level unobservable characteristics (column 3), the coefficient estimates are still between the state of household technology and completed fertility, cohorts born into states with completed fertility of likely Old Order Amish can only be tracked in the census data for the most "state of household technology" or completed fertility. work_ncduait7uvakjama7c443oiimy The focus on infectious diseases in public health ebbs and flows. infectious etiologies of disease remain a substantial threat to the public''s health. has seen a re-emergence of vaccine preventable diseases,2 including pertussis and measles; an other men who have sex with men3; a worsening Hepatitis C infection (HCV) crisis in the setting provocative discussions of important infectious diseases within Delaware. Delaware Journal of Public Health tackles these broad issues. With the recent measles outbreak in Washington and elsewhere,6 public health is in the Health (DPH) has responded to recent vaccine preventable disease outbreaks. public health practitioners closely engaging with communities that have lower vaccination rates. Continuing with the engagement of the community by public health professionals, William they discuss, the epidemiology of HIV has drastically changed since the disease was first achievements of public health in reducing infectious disease sequalae and serious challenges that work_ncz46om7ifhplcmxzgzl44vtym sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219645043 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:30 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_nfxt3c7vqfbmvel2hxjs5arcle Definitions of de novo posttransplant diabetes mellitus (PTDM) have varied widely in the renal transplant literature, and most have not used the American Diabetes Association (ADA) definition of diabetes (fasting Of 23 patients with impaired fasting glucose levels of 111–126 mg/dl, 14 (61%) met ADA criteria for diabetes De novo posttransplant diabetes mellitus (PTDM) occursin 7–30% of renal transplant recipients, with the incidence increasing over time after transplantation (1). of posttransplant diabetes mellitus including "a new requirement for insulin therapy for more than 30 days" (14 –18), and Few reports in transplant recipients have used the ADAaccepted definition of diabetes (fasting plasma glucose [FPG] conjunction with the ADA criteria for diagnosis of posttransplant diabetes in a cohort of renal transplant recipients. (age �18 years) kidney and kidney pancreas transplant recipients with morning clinic fasting plasma glucose levels of (A) Classification of renal transplant study cohort based on American Diabetes Association criteria for diagnosis of diabetes and glucose intolerance. work_nhaoeimcuraozndojq5awzgzpu sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219638313 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:22 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_njh5ropgfbenfaioamxqqpvrqi watertight housings and snap-in replacements for prior generations of marine navigational bulbs. This boating utility is derived from established LED benefits such as improved Argo Navis series of lighting products little time in bringing a range of navigational lighting products to market, starting with a low power, bi-colour LED navlight (0.1 amp at 12V DC) in June 2003. The latest OGM products include complete LED-based lights, such as the Argo are snap-in LED bulb-replacement navigational lamps into long-life LED Pelicans on the Phoenix boats such as these in San Diego are likely to take new navigational LED lights with alacrity Orca Green product line is the flexibility of their novel, constant current LED out the benefits of LED marine lighting Figure 1 The Argo Navis Series uses a patent-pending design for power regulation, which ensures the lights burn at full brightness as battery Figure 2 Bulb replacement inserts give ''Snap-In" LED power efficiencies work_nk2wyjx2nbe2lkgw4i47re6onq sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219643496 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:28 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_nk65msuaynbtrkqmmawg7wbcje Innate Immunity and Asthma Risk in Amish and Hutterite Farm Children Amish and Hutterite children, measuring levels of allergens and endotoxins and assessing the microbiome composition of indoor dust samples. measure serum IgE levels, cytokine responses, and gene expression, and peripheralblood leukocytes were phenotyped with flow cytometry. Profound differences in the proportions, phenotypes, and functions of innate immune cells were also found between the two groups of children. a mouse model of experimental allergic asthma, the intranasal instillation of dust extracts from Amish but not Hutterite homes significantly inhibited airway hyperreactivity and eosinophilia. Innate Immunity and Asthma Risk in Amish and Hutterite Proportions of Peripheral-Blood Leukocytes and Cell-Surface–Marker Phenotypes in Amish and Hutterite Children. Our studies in Amish and Hutterite schoolchildren revealed marked differences in the prevalence of asthma despite similar genetic ancestries and lifestyles. Gene-Expression Profiles in Peripheral-Blood Leukocytes from Amish and Hutterite Children. work_nkihlhstnfh2bmizq5xwpbdore Left atrial scar burden determined by delayed Left atrial (LA) radiofrequency (RF) ablation has become routine treatment for atrial fibrillation (AF) but still suffers from AF recurrence requiring a repeat procedure. We have utilized DECMR to quantify LA scar extent post LA-RF-ablation Full list of author information is available at the end of the article Table 1 LA-scar quantification in AF patients. LA= left atrium; LA scar (hyperenhanced area) was normalized by LA volume. © 2012 Brunner et al; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons whereas 14 (52%) patients demonstrated no AF recurrence. LA-scar was normally distributed Average LA scar extent, quantified in post LA-RF-ablation DE-CMR scans, was significantly larger in recurrence-free AF patients (16.56±5.3 cm2) when Cite this article as: Brunner et al.: Left atrial scar burden determined by radiofrequency ablation: association with atrial fibrillation recurrence. work_nkq3e5dee5fp7j4izjbewmi3di We tested linkage by parametric and nonparametric approaches and association using both casecontrol and family-based methods. families that provided the previous evidence for linkage, the highest parametric, recessive logarithm of odds sib-pairs (18) have identified linkage of type 2 diabetes to was to localize the well-replicated type 2 diabetes susceptibility gene in this region using a dense microsatellite map linkage peak from other laboratories and unpublished data from our laboratory suggesting associations in multiple locations, we considered the possibility that multiple susceptibility loci might be present and that these loci Control individuals included spouses from linkage families who had normal glucose tolerance tests (108 subjects) and Caucasian were included for all markers for both linkage and association studies. To further localize the type 2 diabetes susceptibility locus, we tested association in a Marker D1S194, which was associated with type 2 diabetes in the case-control study, lies just work_nlc445pqs5hzxelntsxu5niqrq mutations have been implicated in Cree encephalitis.2 A pathogenic variant affecting SAMHD1 has not been described in Cree children. We report a case of a Cree boy with phenotypic severe AGS and a The AGS phenotype due to the common mutation in the Cree population has traditionally been referred to as Cree AGS is caused by mutations in SAMHD1 (including missense and no reports of SAMHD1 mutations in Cree children. Several conditions are associated with AGS, including glaucoma, autoimmune diseases, familial chilblain cardiomyopathy, five patients with SAMHD1 mutations, all had both a cerebral If negative, an AGS panel (including SAMHD1) or Figure 1: A through C, age 4 months, T2W and T2 FLAIR axial images demonstrating temporal and frontal cysts; D through F, age 11 months, T2W and T2 FLAIR axial images demonstrating temporal and frontal cysts and abnormal myelination status; G, age 18 months, T1W axial image demonstrating left work_nn2jolctirht5ngzd4v5ubtgmq Diagnostic accuracy of administrative data algorithms in the diagnosis of osteoarthritis: a systematic review Background: Administrative health care data are frequently used to study disease burden and treatment outcomes The purpose of this study is to perform a systematic review of administrative data algorithms for OA diagnosis; and, to evaluate the diagnostic characteristics of algorithms based on restrictiveness and reference standards. sensitivity and specificity of algorithms and calculated positive likelihood ratio (LR+) and positive predictive value (PPV) less restrictive algorithms when reference standards were self-report and American college of Rheumatology (ACR) The algorithms compared to reference standard of physician diagnosis had higher sensitivity and specificity than Conclusions: Restrictive algorithms are more specific for OA diagnosis and can be used to identify cases when false understanding the validity of administrative data algorithms for identifying health outcomes of interest [7, 8]. We conducted a systematic literature review of diagnostic accuracy studies of administrative data algorithms for work_nnbji256k5bqldsyuv4upr6iwu Key words: cutaneous T-cell lymphoma; SAM domain and HD domainecontaining protein 1. Mutations in the SAMHD1 (SAM domain and epidermotropic cutaneous T-cell lymphoma (CTCL). mutation c.1411-2A [ G in the SAMHD1 gene Dermatology, Case Western Reserve University School of dicine, UH Seidman Cancer Center, University Hospitals Case Skin biopsy from the abdomen showed significant mailto:Meg.Gerstenblith@uhhospitals.org mailto:Meg.Gerstenblith@uhhospitals.org Genomic instability caused by SAMHD1 mutations may lead to increased mutagenesis and cancer more aggressive clinical course.10 Our patient''s CTCL with homozygous mutations of SAMHD1 could Study concept and design: Drs Merati, Buethe, Cooper, Merati, Buethe, Cooper, Honda, Wang, Gerstenblith Drafting of the manuscript: Drs Merati, Buethe, Cooper, intellectual content: Drs Merati, Buethe, Cooper, Honda, in SAMHD1 gene causes cerebral vasculopathy and early onset Syndrome Caused by the Arg164X Mutation in SAMHD1 Are Aggressive CD8+ epidermotropic cutaneous T-cell lymphoma associated with homozygous mutation in SAMHD1 Aggressive CD8+ epidermotropic cutaneous T-cell lymphoma associated with homozygous mutation in SAMHD1 work_nojqfjcmvnahjd2xtsi2lkthzu Concrete scalp in trauma The scalp as a donor site for the skin graft was a donor site allows multiple skin graft harvests. alopecia, exudative crusting/"concrete scalp deformity," Concrete scalp deformity is a condition seen when Deep abrasions in the scalp occurring due to trauma if not proliferation of granulation tissue leading to a condition similar to "concrete scalp deformity" seen after medium thickness skin graft harvested from the scalp. granuloma or concrete scalp deformity was made. a split thickness skin graft [Clinical: Figure 1b]. neglected, it can delay wound healing with concrete scalp described only for scalp as a donor site, concrete scalp can Department of Plastic Surgery, Christian Medical Collage Figure 1: (a) Clinical preoperative image showing a 4 cm x 3 cm mulberry Dr. Soumya Gupta, Department of Plastic Surgery, Christian Medical A review of scalp split-thickness skin grafts Incidence of the concrete scalp deformity work_nouzkd5hxve3ljk656r65gdk4i Chasing the Sun: The New Science of circadian rhythms do not fully develop until biological rhythms are shifted later, making circadian rhythms for our health, Geddes with our circadian rhythms, Geddes travels David Sellu saw his last patient of the day, a 66-year a cold November day David Sellu was Hospital, Sellu had it all: four successful by Sellu late one Thursday evening. At home later that evening Sellu called the hospital several times to enquire Sellu that the bloods were normal and the issued — Sellu was later blamed for both The following morning, Sellu Sellu would later be held responsible for Sellu tried to book the The coroner later referred Sellu to the crime — gross negligence manslaughter. cost instead of using the original case notes? Sellu''s story is also a testament to Sellu''s determination to maintain his The Intelligence Trap: Why Smart People exploring intelligence and wisdom. work_nq24gopjcjgazardiywrd26tru sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219647282 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:32 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_nqhqc6axfbc2pe56eq72k3xlqm [PDF] Individual-based modeling of potential poliovirus transmission in connected religious communities in North America with low uptake of vaccination. Corpus ID: 22262014Individual-based modeling of potential poliovirus transmission in connected religious communities in North America with low uptake of vaccination. title={Individual-based modeling of potential poliovirus transmission in connected religious communities in North America with low uptake of vaccination.}, D. Duintjer Tebbens, +4 authors K. Characterization of the impacts of heterogeneity in high-risk populations for infectious disease transmission: Modeling polio and measles in the North American Amish View 10 excerpts, cites methods, background and results View 5 excerpts, cites background and methods View 5 excerpts, cites background and methods View 5 excerpts, cites background and methods View 19 excerpts, references methods, background and results View 19 excerpts, references methods, background and results View 2 excerpts, references methods and background View 2 excerpts, references methods and background work_ns4i2jgpwrg5ti2afvoli26enq A new alopecia/mental retardation inbred family with a mental retardation/ alopecia syndrome. identification of rare recessive syndromes. mental retardation has been noted. reported a separate condition with universal alopecia, mental retardation, and pyorrhoea. of hair on the scalp and neither eyebrows nor eyelashes were present. Some hair was noted at birth but one normal male sib but his mother''s sister''s child Shokeir2 reported a family with dominant inheritance of mental retardation and alopecia. Moynahan'' reported male sibs with mental hair at the age of 2 years and the boy''s mother''s condition in two sibs whose parents were consanguineous was reported by Perniola et al.3 other syndromes in which hair loss is associated with mental retardation. mental retardation. All the affected had hair but it alopecia was total and involved all areas of normal Familial congenital alopecia, mental Congenital alopecia, psychomotor retardation, convulsions in two sibs of a consanguineous marriage. work_nsbybyydpjad7bkrjgj7ib7gki Objective To compare differences in tissue Doppler imaging, global longitudinal strain (GLS), and cardiac troponin the low-output group were treated with milrinone, and by 18 hours LV performance recovered to levels comparable demonstrated that a left ventricular output (LVO) <200 mL/kg/min on echocardiography evaluation 1 hour after ligation is predictive of developing PLCS over the subsequent few hours.6 Early administration of milrinone to infants with low LVO PDA ligation resulted in significant changes in myocardial tissue Doppler measures and myocardial strain imaging. echocardiography (STE) in neonates with high (>200 mL/min/kg) vs low (<200 mL/min/kg) LVO 1 hour after PDA ligation. We hypothesized that the tissue Doppler and strain measures at 1 hour postoperatively would be lower in infants with low LVO LV systolic performance in the group with low LVO treated with milrinone. ligation, infants in the low-LVO group had TDI velocities work_ntgnch4qt5ctdbpjrnelb63viu In Thorax, Campbell et al1 report an association of growing up on a farm with The ''farm-effect'' on allergic disease has effect of growing up on a farm on childhood atopy2 and a lesser effect on childhood asthma.3 In these meta-analyses, the This may be driven by the mix of different farm exposures shown to be important.4 It has also been suggested that the ''farm-effect'' on asthma is partly driven by up on a farm have been found in one previous study among atopic children only6 exposure to farming with asthma are Alternatively, it may be an effect on lateronset atopy or atopic asthma, as indicated the most important environmental exposures underlying the farm-effect for future effects of growing up on a farm on adult lung Asthma and farm exposures in a cohort of rural on a farm during childhood protect against asthma, work_nvdiyhzu3vex5ickq6uoedaaui Determinants of Blood Pressure Response to Low-Salt Intake in a SBP response to a low-salt diet was significantly associated with increasing age and pre-intervention determinants of SBP response to a low-salt diet in this In daytime and nighttime separately, we defined the SBP response to low-salt diet as whom SBP response to low-salt diet was computed are The distribution of SBP response to low-salt diet in reductions in SBP response to low-salt diet from the Table III shows the association of baseline characteristics with SBP response to low-salt diet during daytime associated with higher SBP response to low-salt diet PA levels were not significantly associated with SBP response to low-salt diet None showed any association with SBP response to low-salt diet independently with SBP response to low-salt diet observed in the PA was not associated with SBP response to low salt in associated with a larger SBP response to low-salt diet. work_nvucrckonneedlzvxxyw3ruvii Material and Methods The clinical trials relevant to norepinephrine versus dopamine in treatment of septic shock were electronically searched in the databases of Pubmed, Embase, the Cochrane Library, Web of Science, Google scholar and CNKI. Objective The aim of this study was to investigate the clinical significance of serum homocysteine (Hcy) as a biomarker for early diagnosis of diabetic nephropathy (DN) in type 2 diabetes mellitus (T2DM) patients. In case of problems, please contact the Managing Editor of this journal (jedrzej.daszkiewicz@degruyter.com). Unpublished material: Submission of a manuscript implies that the work described is not copyrighted, published or submitted elsewhere, except in abstract form. The corresponding author grants the journal the license to use of the article, by signing the License To Publish. The Editors reserve the right to decline the submitted manuscript without review, if the studies reported are not sufficiently novel or important to merit publication in the journal. work_nw6enq24czetxjjv6xsyv76bri sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219643058 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:27 If you need further help, please send an email to PMC. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_nxwoxfqqkzetzefpbxnhlxa67a sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219640755 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:25 If you need further help, please send an email to PMC. Include the information from the box above in your message. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_o2zqy6aj6bgprixtqg7ee73eeu Use of Tumor Markers in Gastrointestinal Cancers: Surgeon heterogeneity and ability to predict recurrence and metastases for carcinoembryonic antigen (CEA), cancer antigen studies and survey were combined in a cost-benefit tradeoff analysis to assess which tumor markers are of most use cost-benefit trade-off of three common tumor markers in articles assessed colorectal tumor markers (42 on diagnostic ability, 28 on prediction of recurrence, and 32 on the most commonly utilized tumor marker in colorectal cancer (Fig. 2a), with surveillance for 3 Cost-benefit trade-off for use of the tumor markers in Use of Tumor Markers in Gastrointestinal Cancers 1173 Use of Tumor Markers in Gastrointestinal Cancers 1173 Use of Tumor Markers in Gastrointestinal Cancers 1173 Use of Tumor Markers in Gastrointestinal Cancers 1173 Use of Tumor Markers in Gastrointestinal Cancers 1173 Use of Tumor Markers in Gastrointestinal Cancers: Surgeon Perceptions and Cost-Benefit Trade-Off Analysis work_o42ruo34jrhiljq272hnlc6zri Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing a 9-yr-old male patient who was admitted to the intensive care unit, with focal epilepsy, static encephalopathy, autism spectrum disorder, and macrocephaly of unknown etiology, who Clinical whole-genome sequencing revealed compound heterozygous variants in the KPTN gene. Whole-exome sequencing (WES) or whole-genome sequencing (WGS) allows diagnoses in many patients with complex phenotypes and unusual clinical Clinical diagnostic sequencing currently focuses on identifying causal mutations in the exome (∼1% of the genome), where most disease-causing mutations are known to occur. accurate, and cost-effective molecular diagnosis in a pediatric patient with a genetically heterogeneous phenotype. reported in January of 2014 in patients with a syndrome typified by macrocephaly, neurodevelopmental delay, and seizures (MRT41; OMIM# 615637) (Baple et al. A comparison of the individual clinical signs in patients reported with KPTN-related disease are shown in Table 2. work_o4btvfjgwfdtze7ehrivhcvp5i eukaryotic cells to produce truncated slow TnT protein at high Cloning of Mutant Human Slow TnT cDNA from ANM Patient Muscle—A frozen diagnostic muscle biopsy obtained from the quadriceps poly(A)� mRNA, cDNA encoding slow skeletal muscle TnT was amplified by PCR using oligonucleotide primers synthesized according to the ANM truncated slow TnT to tropomyosin, enzyme-linked immunosorbent assay solid phase protein binding experiments (27) were applied to high and low molecular weight truncated slow TnT proteins, were slow TnT mRNA and truncated protein in skeletal muscle cells. from the transient transfected C2C12 cells confirmed the expression of mutant slow TnT mRNA (data not shown). and lack of truncated slow TnT protein in ANM muscle cells, Cellular Fate of Truncated Slow Skeletal Muscle Troponin T Produced by Glu180 Nonsense Mutation in Amish Nemaline Myopathy* Cellular Fate of Truncated Slow Skeletal Muscle Troponin T Produced by Glu180 Nonsense Mutation in Amish Nemaline Myopathy* work_o4csbslwovcudlv5zqlh4j36ca the Old Order Amish (OOA) of Lancaster County Pennsylvania, a closed population derived from a modest number of International HapMap project (abbreviated CEU) using a high-density single nucleotide polymorphism (SNP) map. For example, the median absolute allele frequency dif ference for autosomal SNPs was 0.05, with an inter-quartile range of was at least 0.8 for 15 and 14% of SNP pairs in the OOA and CEU, respectively. HapMap CEU sample captured a substantial portion of the common variation in the OOA (�88%) at r2Z0.8. suggest that the OOA and CEU may share similar LD profiles for other common but untyped SNPs. Thus, in the context of the common variant-common disease hypothesis, genetic variants discovered in gene mapping studies in the OOA may OOA, Old Order Amish (n 5 60); CEU, US Utah residents from HapMap (n 5 60). OOA, Old Order Amish (n 5 60); CEU, US Utah residents from HapMap (n 5 60). work_o6te4dpdgbgzfbquukuy25xofe prevalent bipolar spectrum disorder, identified 10 potentially pathogenic alleles by exome sequencing, tested association of these alleles with clinical diagnoses in the larger Amish Study of Major Affective Disorder expression, trafficking, assembly and localization of HERG3/Kv11.3 channels, but altered the steady-state voltage dependence and kinetics of activation in neuronal cells. neuronal HERG3/Kv11.3 potassium channels in the pathophysiology of bipolar spectrum disorder. promise as a means to identify individuals predisposed to psychiatric disease (5), but genetic studies of mental illness have thus ASMAD were used to test associations of exome variants with bipolar spectrum disorder (eighteen ASMAD samples were individuals from Families A and C and Among seven Amish individuals with bipolar spectrum disorder, we identified a total of 83 668 exome variants, 17 609 of which remained after filtering out However, a recent independent GWA study suggests an association between bipolar illness and a different KCNH7 variant in a work_o7pyxltowzd5zh4w43vz6t6wcq Nemaline myopathy caused by TNNT1 mutations in a Dutch pedigree Here, we report a patient who is compound heterozygous for a c.309+1G>A mutation and an exon 14 deletion in the TNNT1 gene. This report confirms the specific clinical phenotype of TNNT1 NM and documents two new TNNT1 mutations outside the old order Amish. c.309+1G>A mutation leads to TNNT1 mRNA exon 8 skipping. (C) Schematic presentation of inferred effects on TNNT1 protein composition of the c.309G>A and exon 14 deletion mutations described in this Nemaline Myopathy Caused by TNNT1 Mutations Nemaline Myopathy Caused by TNNT1 Mutations mutation in exon 11 of TNNT1 (Fig. 2C). myopathy in the Amish caused by a mutation in troponin Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. Nemaline Myopathy Caused by TNNT1 Mutations W. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. Nemaline Myopathy Caused by TNNT1 Mutations W. work_ob5rbb2645h5lasluv4rrgnlcm The small experiment framework provides a strategy for meeting the challenge of change. change provides the context for a discussion of the components of the small experiment and an analysis of how these same time, the approach we propose is equally approKEY WORDS: Sustainability; Participation; Experiment; Local scale; environmental sustainability that makes public participation an essential and constructive part of the process. environmental problems, the small experiment concept can facilitate the creation, evaluation, and the heavily on public participation, such an approach fosters familiarity with and a sense of ownership of solutions developed, both of which can aid the adoption approach change through taking small, manageable The scale of implementation, however, differs; small experiments focus changes, but small experiments allow many solutions to small experiment approach to change. information is one way to expand the level of knowledge of different approaches to sustainability. work_obcc73xod5allmcnuaw5wwrsm4 http://osc.hul.harvard.edu/dash/open-access-feedback?handle=&title=Genome-wide%20association%20study%20identifies%20multiple%20loci%20associated%20with%20both%20mammographic%20density%20and%20breast%20cancer%20risk&community=1/4454685&collection=1/4454686&owningCollection1/4454686&harvardAuthors=3b946f07400219a26b7de29cc48962ab&department L. Gierach7, Christopher Scott8, Jennifer Stone9, Julie A. meta-analysis of genome-wide association studies (GWAS) of three mammographic density SNPs (or proxies) were associated with transcript levels in breast cancer tumors using data evidence that mammographic density mediates the SNP-breast cancer association, but we Future large studies with both mammographic density and breast cancer data should assess We looked up the association between mammographic density SNPs and breast cancer in the Mammographic density phenotypes and risk of breast cancer: a meta-analysis. A meta-analysis of genome-wide association studies of breast cancer identifies two Genome-wide association study identifies five new breast cancer susceptibility Genome-wide association study identifies a new breast cancer susceptibility locus Genome-wide association study identifies breast cancer risk variant at 10q21.2: results Genome-wide association study identifies novel breast cancer susceptibility loci. Genome-wide association study identifies 25 known breast cancer Genome-wide association analysis identifies three new breast cancer work_obfq2qoglbg3vgqymymdjfnc7e for the supposed moral harm of selecting for deafness and concludes that these couples may seek to utilize genetic counseling services and reproductive technologies to help them intentionally reproduce a deaf child rather than leave the Davis, the decision to select for deafness violates a child''s moral objection to the decision to select in favor of deafness, it does appear to be applicable to the parental The implications of the right to an open future argument for parents of (existing) deaf children merit mentioning insofar as there is a potential to think that An alternative approach to accounting for the supposed moral harm of selecting for deafness is open to deaf case are selecting for a child who shares a condition On the Supposed Moral Harm of Selecting for Deafness 135 On the Supposed Moral Harm of Selecting for Deafness 135 On the Supposed Moral Harm of Selecting for Deafness 135 work_oc7kh56pjjamvlndnkdqbzfpgi Multicystic Dysplastic Kidney: A Retrospective Study From the Departments of *Pediatrics and Pediatric Nephrology, Mehta Children''s Hospital, Chetpet, Chennai, India. Objective: To report the renal structural and functional anomalies in children with multicystic multicystic dysplastic kidney seen in a pediatric nephrology unit over a period of 6 years. Results: Antenatal diagnosis of multicystic dysplastic kidney was made in 34 (72.3%) On follow up of 31 children for more than 12 months, 21 (68%) had involution, 4 follow-up is needed in children with multicystic dysplasia of kidneys. Keywords: Hyperfiltration injury, Multicystic dysplastic kidney, Proteinuria. 5 children who had unilateral low grade contralateral of children without complete involution at 10 year children having contralateral grade IV VUR and Two children with postnatal diagnosis had renal failure. Both had high grade reflux into contralateral kidney with antenatally detected multicystic dysplastic kidney. Unilateral multicystic dysplastic kidney: does children with unilateral multicystic dysplastic kidney. work_ofdqqvswinby7gitk5jlbq3674 Structured Data and the Web Structured Data and the Web • A huge amount of structured data on the Web – Government data, crime, water condiLons, … Goal: Structured Data Ecosystem (points, polygons) from a large data set ü Google Fusion Tables: ü Google Fusion Tables: Tables on the Web Goal: Search for Structured Data • Finding the good tables on the Web • Understanding user''s intenLons See "Google''s Deep Web Crawl", VLDB 2008 – Single-table databases; Schema = attr labels + types – Recovers good relations from crawl and enables search Searching Tables is Tricky – Hits on table body results for tables Modeling Challenge: Data is About Everything – AcLon movies Recovering Table Semantics Raw HTML Tables Recovered Relations Relation Search Job-title, company, date 104 • Fusion Tables: helping get the ecosystem started. • Search for structured data sets: – Create new data sets • Deep web: VLDB 2008 work_og2xsaoyxvfrnpzlal5q7itgge Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, 17Cardiovascular Health Research Unit and Department of Medicine, University of Washington, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland, USA. We identify variants at the GIPR locus associated with 2-h glucose level (rs10423928, β VPS13C), only ADCY5 was found to be associated with type 2 diabetes in collaborating studies (n have led to the discovery of genetic variation associated with fasting glucose levels in repeated our association analysis including fasting glucose as a covariate (Table 1 and Because GIP is involved in the insulin response specific to an oral glucose challenge, GIPR homozygous for the Gln354-encoding allele of this gene had lower fasting and post oralload C-peptide levels, suggesting a role for GIPR in insulin secretion20; this is in line with associated with 2-h glucose, in GIPR, VPS13C, ADCY5, GCKR and TCF7L2. are associated with fasting6 and 2-h glucose levels and with an increased risk of T2D, work_og4rr3lfi5ffjikin4bkz66jqm Decoding Susceptibility to Respiratory Viral Infections and Asthma Inception in Children respiratory tract infections in infants and children and are major triggers of acute viral bronchiolitis, Molecular profiling studies in children with severe exacerbations of asthma/wheeze asthma; wheeze; innate immunity; Bow-tie architecture; early life that there is a specific interaction between 17q variants, HRV wheezing, and asthma risk in children. expressed genes between epithelial cells which were susceptible versus resistant to HRV-C infection, methylation patterns are increased at birth in children who develop asthma at age 9 suggests that is specifically associated with early-onset asthma in children who wheeze with HRV infection [29]. Association between human rhinovirus C and severity of acute asthma in children. Jartti, T.; Gern, J.E. Role of viral infections in the development and exacerbation of asthma in children. 17q12-21 asthma locus in African American children: A genetic association and gene expression study. work_ohqidy2xtfabbn5qalj7mhgejm The purpose of this study was to benchmark the types of Socratic questioning that were occurring in a Socrates Café, an online discussion forum, in a graduate-level diversity course in teacher suggested that the nine Universal Intellectual Standards provided an exceptional deductive framework for understanding the types and frequencies of Socratic questioning occurring in the Socrates instructors and students may scaffold the critical thinking of complex educational issues (Elder critical thinking via Socratic questioning in the online discussion was identified as the as the require students to apply critical thinking and Socratic questioning, which are considered higher that teacher educators may consider to promote the use of Socratic questioning for critical thinking within online or hybrid courses. Discussions in a Socrates Café: Implications for Critical Thinking in Teacher Education Discussions in a Socrates Café: Implications for Critical Thinking in Teacher Education work_oidvnzngnjdgpmfx6fukb6g3cu 1:Cupples et al.[3], 2:Kuntsi et al.[4], 3:Ellis et al.[5], 4:Pollin et al.[6], 5:Bertram et al.[7], 6:John et al.[8] 1. Examples of family-based study 4. Multipoint linkage analysis peaks with LOD>=2.0 (p<0.0012) in the Amish Family Diabetes Study case-parents trio Transmission Disequilibrium Test (TDT) study data) Family based association test (extended family-based association study data) Heart Study 100K SNP genome-wide association Family-based association for whole-genome association and population-based Populationbased family studies in genetic epidemiology. Family-based designs are commonly used in genetic association studies to identify and to locate genes that underlie In this paper, we review two examples of genome-wide association studies using family-based cohort statistical methods of family-based designs, including the transmission disequilibrium test (TDT), linkage analysis, and family-based designs provide the opportunity to conduct joint tests of linkage and association. : Family-based cohort study, transmission disequilibrium test (TDT), linkage study Examples and outlook of family-based cohort study work_ojfgysmurvdtlabphyshzvg5om In Search of Promised Lands: A Religious History of Mennonites in Ontario by Samuel J. Copyright © The Ontario Historical Society, 2016 Ce document est protégé par la loi sur le droit d''auteur. In Search of Promised Lands: A Religious History of Religious History of Mennonites in Ontario by Samuel J. Steiner''s The Search of Promised Lands: A Religious History of Mennonites in Ontario is a comprehensive account together into a rich, cogent, and accessible history of the Mennonites in Ontario. Mennonite faith and practice in Ontario. A Religious History of Mennonites in Mennonite, Amish and Quaker communities sought a new life in North America when other Mennonite communities immigrated to Canada in the twentieth century from places like the USSR, Germany, Her history of how university administrators tended the student body in the past ries, Steiner''s history of the Mennonites established Mennonite churches in Ontario work_ojigfavc3zf5fbmeriqdwrd63i Merits and Perils of Targeted Neonatal EchocardiographyBased Hemodynamic Research: A Position Statement Merits and Perils of Targeted Neonatal Echocardiography-Based Hemodynamic Research: ten years, evidence of the use TNE and its effect on clinical management has accumulated. A number of studies have now confirmed that TNE in tertiary neonatal care frequently study conducted on outborn patients, a review of 199 infants showed that TNE was associated TNE altered clinical management in approximately 50% of cases in the first week of life, and in Even though there is a great deal of evidence showing the impact of TNE on clinical studies which compared TNE and radiography assessment of umbilical venous catheter Typically, physiological studies in the neonatal field are conducted using animal models. using validated TNE techniques on important clinical cardiovascular disease states that require through the combination of TNE-based research and clinical integration, the goal of neonatal work_olo6u4xuvbfuzbm2sqzoy7soq4 biopsies of the anterior iliac crest were examined to determine the size distribution of adipocyte cell clusters, the percentage of perimeter coverage of trabecular surfaces, and Conclusion: Electron transport simulations were conducted in 4 different 3D voxel models of trabecular bone for sources localized in the active marrow data needed to implement histologically realistic distributions of marrow adipocytes within 3-dimensional (3D) nuclear magnetic resonance (NMR)-based voxel models of In these models, image segmentation techniques are used to separate bone voxels from marrow space through the resulting 3D image and values of cluster size distribution and percentage of perimeter coverage of trabecular surfaces At a marrow cellularity of 95%, �8% of the trabecular perimeter in the biopsy images is covered by adipocytes. When the electron emissions in trabecular bone are uniformly distributed within the volumes of the bone trabeculae, the absorbed fraction of energy to active marrow, work_ommgxmzjhvanfomoizjdyt5yna Cartilage-hair hypoplasia in Finland: Cartilage-hair hypoplasia (CHH) is an study of CHH in Finland showed 107 Cartilage--hair hypoplasia (CHH) is a form of The material consisted of CHH patients diagnosed and followed at the Department of 107 Finnish CHH patients, 46 males and 61 families with 26 CHH patients were added Two female patients from two Finnish families lived in Sweden. 105 Finnish CHH patients in 83 families (fig Cartilage-hair hypoplasia (CHH) is a rare Figure I Cartilage-hair hypoplasia patients born in Most of the ancestors of CHH families originated from a small area in western Finland with Autosomal recessive inheritance was established in a study of CHH in 53 Amish sibships. in utero.2 The segregation analysis of 83 Finnish CHH families was performed by methods Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients studies of cartilage-hair hypoplasia in the Amish. work_omriqrr3svfvneiuas2o437ym4 principle that decomposes the large scale recognition architecture into root & leaf level model propose a blend of leaf level models trained with either supervised or unsupervised learning proposed method is the first attempt to classify 10K objects utilizing a two level hierarchical deep Also a blend of supervised & unsupervised learning based leaf level models We have not come across any work that uses 2-level hierarchical deep learning architecture to Supervised learning based deep visual recognition CNN architectures are composed of multiple CDBN based leaf level models can be trained with unsupervised learning approach in case of recognition models in our two-level hierarchical architecture is trained utilizing supervised The root level & the leaf level CNN models in our architecture are trained with supervised We train the first two layers in the leaf architecture with unsupervised learning. Proposed 2 Level Hierarchical Deep Learning Architecture constructed entirely utilizing CDBNs work_onfxdjiijzfobgv6xcep4bjyry Objective: To systematically review the literature on the long-term neurodevelopmental outcomes of infants and children long-term neurodevelopmental outcome of infants and children born following maternal parvovirus B19 infection in categorized based on 1) outcome of infants and children with clinical presentation of non-immune hydrops fetalis and 2) outcomes of infants and children born to mothers with serologic evidence of acute infection. Five studies reported on outcomes in infants and children with non-immune hydrops fetalis while six studies reported on outcomes in infants and children born to mothers with serologic evidence of infants and children born to mothers with acute parvovirus B19 infection in pregnancy [2.4% (12/494) range from Long Term Outcomes Following Maternal Parvovirus B19 Infection in Pregnancy Studies Reporting Outcomes Based on Serologic Evidence of Acute Maternal Infection Studies Reporting Outcomes Based on Serologic Evidence of Acute Maternal Infection The first report on the long-term neurodevelopmental outcomes of infants born to pregnant women with acute parvovirus work_onvgw2o7o5f4blaowkrzrb5xhq Methods: We recently performed a genome scan of dementia in this population that detected several potential loci. examination of genotype frequencies identified 21 markers (5%) nominally (p ≤ 0.05) associated with dementia; the most Conclusion: Our results provide the initial groundwork for identifying genes involved in late-onset Alzheimer''s disease there may be a number of LOAD susceptibility genes contributing to disease in the general population, the relatively homogeneous Amish population is likely to contain By genetically evaluating case and control individuals selected from such a population, whose common 183 cM where we find evidence for both allele and genotype differences between our dementia cases and controls genome-wide linkage study within the Amish population, NL, Siddique T, Vance JM, Conneally PM, Roses AD: Genetic linkage studies in Alzheimer''s disease families. MA: Fine mapping of the chromosome 12 late-onset alzheimer disease locus: potential genetic and phenotypic heterogeneity. Evidence for genetic linkage of Alzheimer''s disease to chromosome 10q. work_oq3rj5wfqjb3hemp2wi43mj35i [PDF] Automated computer-derived prostate volumes from MR imaging data: comparison with radiologist-derived MR imaging and pathologic specimen volumes. Corpus ID: 34085774Automated computer-derived prostate volumes from MR imaging data: comparison with radiologist-derived MR imaging and pathologic specimen volumes. title={Automated computer-derived prostate volumes from MR imaging data: comparison with radiologist-derived MR imaging and pathologic specimen volumes.}, To compare prostate gland volume (PV) estimation of automated computer-generated multifeature active shape models (MFAs) performed with 3-T magnetic resonance (MR) imaging with that of other methods of PV assessment, with pathologic specimens as the reference standard. Figures, Tables, and Topics from this paper Fully automated prostate segmentation on MRI: comparison with manual segmentation methods and specimen volumes. Transrectal Ultrasound versus Magnetic Resonance Imaging in the Estimation of Prostate Volume as Compared with Radical Prostatectomy Specimens By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_or7mfczwlzdhdaq56ymtodce6e of specific periodontal disease-associated microorganisms and antibodies to selected human and microbial heat shock proteins (Hsp70, index, plaque index, and microbial colonization to the anti-Hsp antibody concentrations. patients with higher anti-Hsp (Hsp90, DnaK, and GroEL) antibody concentrations tended to have significantly (P ≤0.05) healthier periodontal who are at risk for developing periodontal disease based on their inability to mount an immune response to specific Hsp or Hsp epitopes, Plaque samples were collected from the 6 most periodontally diseased sites based on probing depth periodontal disease, antibody level, and colonization of subgingival dental plaque were assessed by Anti-Stress Protein Serum Antibody Concentrations presence of anti-stress protein antibodies and colonization of the subgingival plaque by specific periodontal disease-associated microorganisms (Fig. 2). There does not appear to be any significant association in the relationship between the anti-Hsp70 concentrations and colonization. Relationship between serum anti-stress protein antibody concentration and colonization. work_ot5gnjmwkjg3fpx4xu23qzbdnq single deleterious gene i n a founder can attain an appreciable frequency i n later in their frequencies in present major human populations may be due to the founder Many of the tri-racial isolates of Eastern United States also have a high frequency of a deleterious gene (Witkop et al., original small size of the isolate could account for the high frequency of the deleterious gene. frequencies of deleterious genes with various models of population expansion. The occurrence which initiated this research is the gene for sickle cell hemoglobin in the Brandywine isolate of Southeast The high frequency i n the Brandywine isolate may have a similar explanation, but the surrounding Negro population with the sickle cell trait, 16% of the populations have the gene at a frequency of carrier of the lethal gene and the population doubled itself for five generations, so a few founders should have such high frequencies of lethal genes seems to indicate work_otawhxu5ujbhnb74tzc2i6oofm gondii infection has been associated with mental illness, including schizophrenia T. gondii IgG was estimated using a mixed model that included fixed effects for age and sex and gondii serointensity and seropositivity with significant heritability. Keywords: environment; household; genetics; heritability; infection; mental illness; parasitic infection; Toxoplasma gondii is one of the most common obligate intracellular protozoan parasites, infecting T. gondii study, we measured plasma IgG antibody titers in these 2017 participants. To our knowledge, this is the first study to examine the heritability and household effects of It is possible that genetic effects resulting in a significant heritability may also lead to gondii infection risk factors. Relationship between Toxoplasma gondii infection and bipolar disorder in a "Latent" infection with Toxoplasma gondii: Association with trait aggression and Clustering of Toxoplasma gondii Infections within families of risk factors for Toxoplasma gondii seropositivity in the Old Order Amish. work_oui7m26h25b5blsmdu6xcmwoou (D and E) qRT-PCR and western blot analysis of MPNST cells and precursors for expression of Brd4. (F and G) qRT-PCR and western blot analysis for Brd4 knockdown in sMPNST-pTripz cells with or without doxycycline (Dox). (H) Effect of Brd4 shRNA induction on MPNST cell growth/viability using ATP CellTiter Glo assay. (B) Representative pictures of sMPNST tumor bioluminescence in mice over time, which indicate that acute Brd4 knockdown suppresses MPNST tumorigenesis (H) Western blot analysis of BRD4 protein levels in shCONTROL and shBrd4.552 sMPNST tumors in mice given doxycycline water. BRD4 Maintains Cyclin D1 Expression and Cell-Cycle Progression in MPNSTs and suggest BRD4 as a therapeutic target for inhibiting oncogenic Cyclin D1 in MPNSTs. Brd4 Regulates Expression of Proapoptotic Bim BET Bromodomain Inhibition Triggers Apoptosis of NF1-Associated Malignant Peripheral Nerve Sheath Tumors through Bim Induction BET Bromodomain Inhibition Triggers Apoptosis of NF1-Associated Malignant Peripheral Nerve Sheath Tumors through Bim Induction Brd4 Regulates MPNST Cell-Cycle Progression and Cyclin D1 Expression work_ounhqhfvsnajxm4xotpcesakqm Human ITCH E3 Ubiquitin Ligase Deficiency These patients represent the first reported human phenotype associated with ITCH deficiency. ligase Itch cause fatal autoimmune disease characterized by kidneys, and heart.7,8 Our findings have broad implications for the study of autoimmunity in humans and underscore the important role of ubiquitination in the development of other organ systems. failure to thrive, hepatomegaly, splenomegaly, multisystem autoimmune disease, and delayed motor development (Table 1). Clinical and Autoimmune Features Seen in ITCH-Deficient Pa (B) Mid-power view of the liver in another subject with autoimmune hepatitis shows a mixed inflammatory cell infiltrate in the mice, mutations of the E3 ligase Itch cause fatal autoimmune disease characterized by histiocyte and lymphocyte Human ITCH deficiency causes disease beyond the Genetic Mapping and Gene Mutation in ITCH-Deficient Patients Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease work_ovdjogiy3fgdxk733x6ghp3oka [PDF] The association of coronary artery calcification and carotid artery intima-media thickness with distinct, traditional coronary artery disease risk factors in asymptomatic adults. Corpus ID: 7629503The association of coronary artery calcification and carotid artery intima-media thickness with distinct, traditional coronary artery disease risk factors in asymptomatic adults. title={The association of coronary artery calcification and carotid artery intima-media thickness with distinct, traditional coronary artery disease risk factors in asymptomatic adults.}, Coronary artery calcification (CAC) and common carotid artery intima-media thickness (CIMT) are measures of subclinical vascular disease. This 2000-2006 study aimed to characterize the associations among coronary artery disease risk factors, CAC quantity, and CIMT and to estimate shared genetic and environmental contributions to both CAC and CIMT among 478 asymptomatic Amish adults in Lancaster County, Pennsylvania. By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_owffierwobhl3cl36p5cx63dje Analysis of the Gut Microbiota in the Old Order Amish possible dysbiosis of gut microbiota in obesity and its metabolic complications, we studied men and women over a range of We characterized the gut microbiota in 310 subjects by deep pyrosequencing of bar-coded PCR amplicons from positively or inversely correlated with metabolic syndrome traits, suggesting that certain members of the gut microbiota (2012) Analysis of the Gut Microbiota in the Old Order Amish and Its Relation to the Metabolic (2012) Analysis of the Gut Microbiota in the Old Order Amish and Its Relation to the Metabolic characterize the gut microbiota in a metabolically well-characterized cohort of 310 Amish subjects over a range of BMI. and role of the gut microbiota in obesity and the metabolic Bacterial species and OTUs correlated with metabolic syndrome phenotype. Figure S1 Rank abundance of genera in the gut microbiota of the Amish. work_owpponbjtvdojbvyltjfvae5lu differences on a standard personality test between samples of Old Order young men are too large to be a plausible outcome of simple genetic selection In genetics quantitative traits like stature, body weight, milk yield in cattle, yield per acre of a mean'' (Turkheimer, 2000) gives ''all human behavioural traits are heritable'' as his first law of Despite this, the social sciences have generally neglected quantitative genetic models of cultural transmission in our species has increased overall rates of genetic adaptation (see e.g. Hawks et al., 2007; Cochran & Harpending, 2009; Laland et al., 2010; Richerson et al., 2010, data with the simple genetic model is that other social forces, e.g. family transmission, genetic model posited that the differences between the two populations are a utility of quantitative genetic models as a useful yardstick for describing social traits and Some Uses of Models of Quantitative Genetic Selection in Social Science work_owre356pwjfmpodo66y5sropda tool to the study of type 2 diabetes, the genome-wide has not yielded the definitive picture of the genetic contribution to type 2 diabetes (Table 1; reviewed in [1]). many confirmed type 2 diabetes genes to study compared GWA, genome-wide association; SNP, single nucleotide polymorphism. Candidate gene studies of type 2 diabetes and complications of related physiological abnormalities will, however, remain important in the years ahead for a variety of association between SNPs and diabetes-related phenotypes are reported, and this approach will likely be insulin sensitivity is due to a greater environmental component and thus that genetic risk for type 2 diabetes is continue to dissect type 2 diabetes genetics, that genes PK, Barmada MM, Rotter JI, Nicolae DL, Cho JH: A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. variation in the gene encoding calpain-10 is associated with type 2 diabetes type 2 diabetes genes in Mexican Americans through genome-wide association studies. work_oxps56lnbferbewdmwa6gn4vya progressive familial intrahepatic cholestasis (PFIC) types 1, 2 and 3, an autosomal recessive disease due to intrahepática incluye las colestasias progresivas familiares PFIC 1, 2 y 3 causadas por fallas en los genes familiar progresiva (PFIC) tipo 1, 2 ó 3 y colestasia intrahepática recurrente benigna (BRIC); Las PFIC es un grupo de colestasias crónicas de inicio precoz en niños que son la causa PFIC 1 y 2 es que la hiperbilirrubinemia conjugada se acompaña de GGT (Gamma Glutamil del daño por acción detergente de la bilis lo que caracterizado los genes y transportadores responsables de estos defectos que causan colestasia. En PFIC1 los mecanismos de inhibición de la secreción biliar hepática todavía se Abreviaturas: BSEP (bile salt export pump); PFIC (progressive familial intrahepatic cholestasis); BRIC (benign recurrent intrahepatic BSEP participa en el transporte de ácidos biliares hacia la bilis a nivel de work_oylp4jtv55agnmivcvppcbe2xq time for a microtissue, with respect to meaningful assay results, biomarkers of threedimensionality that reliably predict CPR outcomes and are expressed early in culture are a musthave. Recently, many studies have shown that when cells are grown in a 3D culture their cytokine production of cytokines and survival and growth factors important for the cell. The pathway to cytokine upregulation: Ras/Raf/ERK signaling and transcription factors of hematopoietic cells by activated Raf genes has often been shown to result in the expression of NIH-3T3 cells expressing activated Raf have shown increased secretion of directly implicated in the expression of cytokines, mitogens and cell survival factors (see Table control and activation of the pathway is essential for production and regulation of the cytokines gel cultures [87] and in mammary tumor cell spheroids, where its activation was also responsible AP-1 activity leads to cytokine production, depending on the cell type (malignant versus work_ozxlufexzjeyzbwcz5mdkpbzvq precursors are imported via the translocase of the outer mitochondrial membrane (TOM complex) and are subsequently sorted into presequence translocase of the inner membrane (TIM23 complex). complex (small Tim proteins) and inserted into the inner membrane resulting from mutations in nuclear genes encoding mitochondrial defects of mitochondrial carriers, a family of nuclear-coded proteins present the current status of structural studies on these pigmentprotein complexes, based upon a combination of X-ray crystallography and single molecule spectroscopy. mitochondrial complex I Complex I (NADH:ubiquinone oxidoreductase) is the first enzyme translocation of four protons across the inner-mitochondrial membrane, and it is a significant source of reactive oxygen species, linked P/9 Structural and functional insight into mitochondrial complex I The molecular mechanism how complex I (NADH:ubiquinone and biogenesis of this mitochondrial complex I. mtDNA and nDNA oxidative phosphorylation, antioxidant and antiapoptotic genes and the down-regulation of glycolytic and proapoptotic genes, all in association with increased protein levels for Therefore, mutations in different mitochondrial work_p2shiixyyvgw7bfjfp6g7vciju Results: There was no strong evidence of linkage of common myopia to these candidate regions: However, one Amish family showed slight evidence of linkage (LOD>1.0) on Conclusions: Significant evidence of linkage (LOD> 3) of myopia was not found on chromosome Jewish and Amish families also did not yield any significant evidence of linkage in these two regions, with the Table 4: Two-point parametric LOD scores for myopia (Model 1) in 38 Ashkenazi Jewish families Multipoint nonparametric linkage analysis of myopia to chromosome 18p in 40 Amish families Multipoint nonparametric linkage analysis of myopia to chromosome 18p in 40 Amish families Multipoint nonparametric linkage analysis of myopia to chromosome 18p in 38 Ashkenazi Jewish families Multipoint nonparametric linkage analysis of myopia to chromosome 18p in 38 Ashkenazi Jewish families Table 5: Families showing slight evidence for linkage of myopia (Model 1) to chromosome 12q or 18p work_p3m7vdpo3zgbfmj6f6syx5fea4 SUSAN LINDEE (eds.), Genetic Nature/Culture: knowledge about human genetics and the ways in which people are recruited (or forced) into genetics, in anthropology, and more generally in the power relationships surrounding knowledge. The opening essays use historical cases to investigate the ethics of using people to create Haraway''s analysis is considered alongside Lindee''s story of a geneticist recruiting people to gain information, it appears that only geneticists can create genetic knowledge, but that they often use whom the knowledge was created for – a second theme that runs throughout the book. While Haraway considers animal genetics in connection with fancying, Franklin looks at that science in the Genetic Nature / Culture: Anthropology and Science Beyond the Two-Culture Divide, Berkeley, Los Angeles and London: University of California Press, 2003. Himla Soodyall''s essays go further, arguing that cultural meanings can be the reason for knowledge formation. This book is not a history of genetics, anthropology or other sciences. work_p4c2qkmb4bgcjkb6z7b4vikqqe QTL Influencing Blood Pressure Maps to the Region of PPH1 on Chromosome 2q31-34 in Old Order Amish influencing blood pressure in the Old Order Amish population of Lancaster County, Pennsylvania. systolic (lod51.64; P50.003) blood pressure in the region of chromosome 2q31-34. Conclusions—A gene linked to familial primary pulmonary hypertension has recently been mapped to this same region, Key Words: blood pressure n Amish n genetics n hypertension, pulmonary Amish (OOA), a genetically isolated white population characterized by large family sizes. a variance components methodology, in which we partitioned variation in blood pressure into components attributable to environmental covariates, the additive effects of genes (ie, residual heritability), linkage of the dichotomous trait, hypertension, to chromosome 2q markers (data not shown), although the power to Linkage has previously been reported between hypertension (and/or blood pressure) and several functional candidate for linkage of any of these regions to blood pressure variation. work_p4qks47yl5da5llgwj7wr3dfxe Six infants in an Old Order Amish pedigree were observed to be affected with endocrine-cerebro-osteodysplasia (ECO). ECO is a previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems. Autozygosity mapping and sequencing identified a previously unknown missense mutation, R272Q, in ICK, encoding intestinal cell 272) on ICK protein structure, function, and pathological implication was predicted with four online tools, namely PMUT,15 Overall, affected individuals had ventricular hydrocephalus, midline cleft lip and palate, abnormal bone development manifesting as micromelia, bowing of the long bones, Autozygosity Mapping of ECO-Affected Pedigree Identified an Amino Acid Change, R272Q, in ICK The ICK R272Q mutation underlying the ECO syndrome implicates intestinal cell kinase A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems work_pbgwzzmdsre3pm2zus37kxcnxi initiated in 1995 with the goal of identifying the genetic determinants of type 2 diabetes and related traits through positional NHANES III, Third National Health and Nutrition Examination Survey; OGTT, oral glucose tolerance test; OOA, Old Order Amish; sBP, systolic blood pressure; STR, subscapular-to-triceps ratio; WHR, waist-to-hip ratio. The Amish Family Diabetes Study was initiated to identify susceptibility Subjects with type 2 diabetes were older, more obese, and had higher insulin levels. prevalence of diabetes in the OOA was approximately half that of the Caucasian individuals who design of the Amish Family Diabetes Study, The diabetic probands'' firstand second-degree family members aged �18 prevalence rates in spouses of OOA diabetic probands and their family members. RESULTS — The Amish Family Diabetes Study was well received by the OOA characteristics of OOA subjects with diabetes and IGT and/or IFG were similar to insulin in the Amish Family Diabetes Study work_pbrvjcs2gfftroz7ba3ceecxp4 Heterozygosity was associated with significantly longer leukocyte telomere length, lower fasting insulin levels, and lower prevalence of diabetes mellitus. Therefore, we tested the association of carrier status for the null SERPINE1 mutation with LTL as Association of SERPINE1 genotype status and leukocyte telomere length as a function of age in the Berne Amish kindred. Every 1-year increase in age of study participant was associated with a 0.0087 lower relative LTL (P < 0.0001) and a 30–base pair lower the aging composite scores, including brachial pulse pressure (A), e′ velocity (B), and carotid IMT (C) as a function age in Amish participants by genotype status for SERPINE1 null Future studies will provide the opportunity to investigate the contribution of PAI-1 to individual telomere attrition over time, the development of incident diabetes and other age-related diseases, and perhaps Association of biological aging composite scores including telomere length with 5-year work_pfz7w4pfk5gadguf7xflc7txga Effect of Phenobarbitone on Amplitude-Integrated Electroencephalography in Neonates with Hypoxic-Ischemic Encephalopathy during Hypothermia Background: Phenobarbitone induces suppression of cerebral electrical activity on amplitude-integrated electroencephalography (aEEG) in neonates with hypoxic-ischemic Development of severe aEEG background patterns after phenobarbitone may unmask a population at greater risk of abnormal outcome. Amplitude-integrated EEG (aEEG) is commonly employed in neonatal intensive care units (NICUs) to monitor background cortical activity, seizure management, for seizure management in infants with moderate and severe HIE and are well known to induce aEEG suppression to study the association between aEEG suppression following phenobarbitone and severity of HIE. aEEG, amplitude-integrated electroencephalography; AEDs, anti-epileptic drugs; FT, flat trace; LMV, lower margin voltage; UMV, upper margin voltage. In comparison to baseline, post-phenobarbitone tracings demonstrated higher frequency of severely abnormal patterns and UMV and LMV below Example of an aEEG tracing illustrating effect of phenobarbitone administration to an infant with HIE and seizures while work_pggt2cqheffi5bsmo64bpdx3xy [PDF] Amish enterprise: the collective power of ethnic entrepreneurship | Semantic Scholar Corpus ID: 53588238Amish enterprise: the collective power of ethnic entrepreneurship title={Amish enterprise: the collective power of ethnic entrepreneurship}, This paper examines how Amish communities build and sustain enterprises that produce and/or sell goods to both ethnic and non-ethnic markets. Based on qualitative research including interviews with 161 Amish entrepreneurs in 23 communities in the USA, the authors develop a transformative model of ethnic community entrepreneurship. Sort by Most Influenced Papers View 8 excerpts, cites background View 8 excerpts, cites background View 8 excerpts, cites background View 8 excerpts, cites background View 1 excerpt, references background View 1 excerpt, references background View 1 excerpt, references background View 1 excerpt, references background View 1 excerpt, references background By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_pgqgbmb7n5adlehk7qpvawafqm Reductions in Clostridium difficile Infection (CDI) Rates Using Real-Time Automated Clinical Reductions in Clostridium difficile Infection (CDI) Rates Using Real-Time diarrhea, (3) no laxative use within 24 hours, (4) no previous CDI test result within 7 days, and (5) patient days and standardized infection ratios (SIRs), (2) tests ordered in patients receiving laxatives The baseline CDI testing rate decreased from 284 per 10,000 patient days preintervention to 268 per decreased 56% postintervention, from 155 per 10,000 patient days preintervention to 84 tests per Testing while on laxatives decreased by 64%, from 77 per 10,000 patient days preintervention to 24 difficile infection (CDI) orders decreased after launch of the automated real-time difficile rates by 50% without changing the CDI testing method. Epidemiology and Infection Prevention, University of California Irvine Health, Orange, California; 2. of Infectious Diseases and Health Policy Research Institute, School of Medicine, University of California Irvine, Irvine, work_pgskylqrbffu3mom7r3x7ri4ce sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219644775 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:29 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_ph4dgiywsbcinpofn5mvqy7csy On the use of the word "victim" for those affected by crime. these etymological analyses for a better understanding of the role of the victim in criminal procedure, another topic raised in Fletcher''s book. In classical Greek, Latin, and Hebrew, the wider use of the victim label for those affected by crime is non-existent. sin in old Hebrew, Fletcher returns to the linguistic phenomenon at issue, namely, that "the word for ''victim'' in with supposedly more humane restorative justice approaches outside criminal justice.10 Fletcher''s interpretation of the use of the victim label adds fuel to If those affected by crime are called victims because of their resemblance to Jesus Christ, the French language, Le Grand Robert, the oldest documented figurative use of "victim" for a human person is also a reference to Jesus Christ. Those affected by crime are in my view called victims because their suffering resembles that of the figure of Christ. work_pkfmnforcbhohb5gyvs7yh4ycu the Delaware Division of Public Health (DPH) has recorded three distinct outbreaks of pertussis DPH conducted an outbreak investigation in the Amish community to identify cases, Delaware reports cases of pertussis to the Centers for Disease Control and Prevention (CDC) (DPH) has recorded three distinct outbreaks of pertussis in Delaware''s Amish community.7 The investigation of the third outbreak of pertussis in the Amish community and opens the discussion throughout the community, DPH initiated active surveillance of pertussis in the Amish Characteristics of pertussis cases in an Amish community outbreak, Kent County, Number of pertussis cases in an Amish community outbreak, Kent County, Delaware, Number of pertussis cases in an Amish community outbreak by age group, Kent Vaccination status of pertussis cases in an Amish community outbreak by age group, Pertussis outbreak in an Amish Community: Kent County, Delaware, 2018 Pertussis outbreak in an Amish Community: Kent County, Delaware, 2018 work_pmerfb5lyndcfhsaxwgt5mafgi On Agar''s view, there are two important restrictions on parental freedom. mark of the new liberal eugenics is state neutrality about the good life''.7 PCE is thus My account is thus perfectionist in the sense defined by Joseph Chan: ''perfectionism is the view that the state should promote valuable conceptions of the good life''.11 I suggest that in some cases the state ought to require that children receive enhancement These alternative accounts of educational fairness have been explored in the enhancement debate by Oliver Feeney who defends a principle of strict equality of opportunity.23 On my view, one highly significant goal of enhancement and education should be to promote a child''s prospective autonomy by developing the relevant In this case, Amish parents wished to withdraw their children from state education, a no education, then the Amish parents are increasing the real freedom of their children; work_potnytg4trfw5ljygdwngly75q sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_povdtyhgjbhvzhhxlytu27olle association study of serum soluble vascular VEGFR2 concentrations [sVEGFR2], a pharmacodynamic biomarker for Experimental Design: We conducted a genome-wide association study (GWAS) of [sVEGFR2] in 736 healthy Old Order Amish Gene variants identified from the GWAS were genotyped serially in a cohort of 128 patients with advanced solid human cancer cohorts the change in [sVEGFR2] was associated To expedite discovery of gene variants that mark interindividual differences in response to VEGFR2 inhibitors, we performed a genome-wide association study (GWAS) of [sVEGFR2] enrolled, 121 had DNA and sVEGFR2 serum measurements available from baseline and after 4 weeks of pazopanib 500K SNP platform) and serum [sVEGFR2], 730 also had genotype data on the human cardiovascular disease risk focused that would be associated with serum [sVEGFR2] in the heterogeneous population of patients with cancer of European ancestry in KDR SNP Associated with Serum VEGFR2 and Pazopanib Pharmacodynamics KDR SNP Associated with Serum VEGFR2 and Pazopanib Pharmacodynamics work_pse2cwvyczcefpp3zyzxu65rre Methods: The initial analysis included 548 Sorbs from Germany who have been extensively phenotyped for metabolic traits and who completed the German version of the Conclusion: Our data suggest that rs2237781 within GRM8 may influence human eating behavior factors probably via pathways involved in addictive Eating behavior has been shown to be a complex trait influenced by genetic and psychological factors as well as social genetic contribution to individual eating behavior phenotypes has been demonstrated by heritability estimates (0.28, studies support the role of genetics in eating behavior. instance, genetic variation in TAS2R38 has been significantly associated with eating behavior disinhibition in Old Mean eating behavior scores for the German cohort are No significant association was detected for the eating behavior factors disinhibition and susceptibility to hunger feelings. Meta-analysis for association of rs2237781 with restraint including Sorbs, German cohort, and Old Order Amish. associated with the eating behavior disinhibition in Old work_pst4ezbfffbqtjwfqxxlw2aiiy Rare Variant APOC3 R19X Is Associated With Cardio-Protective Profiles in a Diverse Population-Based Survey as Part of the Epidemiologic Architecture for Genes Linked to Environment Study | Semantic Scholar Corpus ID: 8381474Rare Variant APOC3 R19X Is Associated With Cardio-Protective Profiles in a Diverse Population-Based Survey as Part of the Epidemiologic Architecture for Genes Linked to Environment Study title={Rare Variant APOC3 R19X Is Associated With Cardio-Protective Profiles in a Diverse Population-Based Survey as Part of the Epidemiologic Architecture for Genes Linked to Environment Study}, Methods and Results—To better describe the frequency and lipid profile in the general population, we as part of the Population Architecture using Genomics and Epidemiology I Study and the… Expand View 11 excerpts, cites background and results Genetic Determinants of Lipid Traits in Diverse Populations from the Population Architecture using Genomics and Epidemiology (PAGE) Study By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_pt333bk2nbautheynre2famqqu The orofacial manifestations include multiple gingivolabial musculofibrous fraenula, dental anomalies, hypodontia and malocclusion. Key words: Ellis-van Creveld syndrome, chondrodysplasia, orofacial anomalies. Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia is a rare autosomal recessive disease The principal features of this syndrome are chondroectodermal dysplasia, polydactyly and congenital heart Oral manifestations include multiple musculofibrous frenula, dental Odontological Clinic of the University of Barcelona presenting the typical clinical features of EVC syndrome. Multiple musculofibrous frenula, diverse morphological anomalies of the teeth and malocclusion are observed. EVC syndrome is a genetic disorder with autosomal recessive transmission most often described in families oral features presented in these patients. in two-thirds of Ellis-van Creveld syndrome patients. dysplasia (Ellis-Van Creveld Syndrome). Growth hormone analysis and treatment in Ellis-van Creveld syndrome. transplantation in Ellis-van Creveld syndrome: a case report. to an upper airway cyst in a patient with Ellis-van Creveld syndrome. Ellis-van Creveld syndrome and dyserythropoiesis. work_ptflkh44drgxna7t777iwcewae [PDF] Local symmetry breaking in SnO2 nanocrystals with cobalt doping and its effect on optical properties. Corpus ID: 44177897Local symmetry breaking in SnO2 nanocrystals with cobalt doping and its effect on optical properties. S. Roy, Amish G Joshi, +1 author A. X-ray photoemission spectroscopy (XPS), X-ray diffraction (XRD) and transmission electron microscopy (TEM) have been used to study the structural and morphological characteristics of cobalt doped tin(iv) oxide (Sn1-xCoxO2; 0 ≤ x ≤ 0.04) nanocrystals synthesized by a chemical co-precipitation technique. Influence of oxygen vacancy defects and cobalt doping on optical, electronic and photocatalytic properties of ultrafine SnO2-δ nanocrystals Identification of point defects on Co-Ni co-doping in SnO$_{2}$ nanocrystals and their effect on the structural and optical properties By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_pw2zznfanrflrcauwyn2ctmyc4 The liberal conscience: Politics and principle in It is a common belief that the gap dividing liberals and theocrats is Liberals stand for religious toleration, freedom of association as to allow political institutions to be imbued with religious values. its interference in the lifestyles of theocratic communities, and this is a moral Swaine meets the challenge of theocrats first of all by recognizing the society the theocrat has no guarantee that he holds the right religious doctrine disaster, Swaine argues that the theocrat is rationally committed to three theocrats and lead them to affirm liberal institutions. way to prevent theocratic communities from being entirely absorbed within the quasi-sovereign theocratic communities are obliged to respect a minimal set of autonomy without violating the moral and religious fabric of the theocratic being constitutive of the identity of the theocratic communities the book wishes The liberal conscience: Politics and principle in a world of religious pluralism, work_pxbiviwifvcirbcmjdb6tuhaaq whether quantitatively detected subclinical symptoms of bipolarity identifies a heritable trait that infers risk for BP. Quantitative Bipolarity Scale (QBS) was administered to 310 Old Order Amish or Mennonite individuals from multigenerational pedigrees; 110 individuals had psychiatric diagnoses (20 BP, 61 major depressive disorders (MDD), 3 quantitative bipolarity as measured by QBS can separate BP from other psychiatric illnesses yet is significantly heritable diagnosis-based genetic research in BP by taking advantage of the large family structures in the OOA/M, to test Table 1 Sample Demographics, QBS (quantitative bipolarity scale) score and QBS subscores across diagnostic groups Asterisk indicates measure with significant difference (p < 0.5) between bipolar disorder and major depression Fig. 2 QBS (quantitative bipolarity scale) score across diagnostic Table 3 Heritability of QBS (quantitative bipolarity heritable in pedigree samples from the OOA/M population, interestingly even in individuals without BP or psychiatric diagnosis. work_pztpdmrxfjf6vopg6vyqg5hjc4 medicine and medical science after the Second Susan Lindee, Moments of truth in genetic Historians of medical genetics have long been eugenics'''' with medical genetics during the of such medical-genetic technologies as Lindee notes that research in the field has associated with genetic medicine (p. welcome new book is on aspects of the history of genetic medicine but an analysis of five genetics, and Victor McKusick''s studies of the practices in genetic medicine, the development rise of human behaviour genetics, and the as a success of genetic medicine, a reframing involved in medical-genetic research. Stanley Finger, Doctor Franklin''s medicine, He experimented with electricity as a cure for Carnegie Mellon University, on 06 Apr 2021 at 01:38:24, subject to the Cambridge Core terms of use, available at Carnegie Mellon University, on 06 Apr 2021 at 01:38:24, subject to the Cambridge Core terms of use, available at https://www.cambridge.org/core/terms https://www.cambridge.org/core/terms https://www.cambridge.org/core/terms https://www.cambridge.org/core/terms work_q3ks5falg5ccddcpeuw6ys2fgy Medical Genetic Studies of the Amish. To read this edited collection of papers is both a Amish formed a majority of the Baltimore population, but this book shows clearly how worthwhile the medical and population genetics. those dealing with general and population genetics, studies of previously recognised Mendelian syndromes, and (the largest section) ''new recessively The value of the studies in this book extends far Anyone working in medical genetics to whom the Amish are unfamiliar should read this book without investigation, where studies of genetic diseases have British Medical Bulletin: The HLA System developing many diseases with a clear genetic basis praiseworthy feature of the book. This issue of the British Medical Bulletin is first genetics of immunoglobulin molecules. It is remarkable value at £5-00 and is describes what is known of the genetics of antibody Basic Immunogenetics review of the human blood group systems and the work_q43fgmvngzguvpaohot24swwge Tansey, The western medical tradition 1800 for the Cambridge History of Science series the History of Medicine at UCL), that major medicine, 1850–1913'' (W F Bynum), (Christopher Lawrence) and ''Medical enterprise Bynum''s previous textbook need have no medicine and medical science after the Second western medicine, in their period, became a of The western medical tradition will be an comprehensiveness of The western medical Historians of medical genetics have long been eugenics'''' with medical genetics during the of such medical-genetic technologies as Lindee notes that research in the field has associated with genetic medicine (p. of genetic medicine but an analysis of five genetics was transformed from an institutional practices in genetic medicine, the development Carnegie Mellon University, on 06 Apr 2021 at 01:38:35, subject to the Cambridge Core terms of use, available at Carnegie Mellon University, on 06 Apr 2021 at 01:38:35, subject to the Cambridge Core terms of use, available at work_q552zk7xqfgv5j5puzb7lie3y4 significantly fewer DNMs in Amish individuals, even when compared with other Europeans, and even after accounting for parental age and sequencing center. Amish, which seem to underpin their overall reduction in DNMs. Finally, we calculated near-zero estimates of narrow sense heritability (h2), which suggest that variation in DNM rate is significantly DNM counts and rates across five TOPMed cohorts that represent European, African, and Native American (Latino) ancestry individuals, and that include Amish individuals from a and then test whether mutation rate is a heritable trait in anticipation of using genome-wide association studies (GWAS) to call set to date, and use it to quantify the genome-wide relationship between local mutation rate and population-level and mutation rate estimates explain the distribution of genomic variation seen at the human population level. per chromosome can explain between 60% and 72% of the variation in rare variant totals across chromosomes that have segments with high local DNM rates (chrs 8, 9, 16, and 19) (Table work_q67coflxdjbmzl7q3r342sz2ra sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219643467 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:28 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_qbm42vk6znelbm5d2ribor2hci Results Class IIIa aneurysms were more likely to improve Class IIIb aneurysms were more likely to remain incompletely occluded than Class IIIa aneurysms (85.11% with wider necks while Class IIIa aneurysms had higher (MRRC), in which Class IIIa designates contrast opacification within the coil interstices of a residual aneurysm and Class IIIb designates contrast opacification neck; Class IIIa: residual aneurysm All three aneurysms were graded as Class IIIa because there was contrast ▸ Any contrast seen within the aneurysm at the end of the procedure was defined as Class III, even if believed to be a result Initial angiographic occlusion class is a predictor of aneurysm It is not surprising that the Class IIIb group had larger aneurysms with wider necks. over time for Class IIIa and IIIb aneurysms. Class IIIa and IIIb aneurysms. We propose the MRRC to further differentiate Class III aneurysms into those likely to progress to complete occlusion and work_qbwxfx6uhbdmfifw5y66amt5cy Linkage disequilibrium mapping of the replicated type 2 diabetes Prokopenko, I, Zeggini, E, Hanson, RL, Mitchell, BD, Rayner, NW, Akan, P, Baier, L, Das, SK, Elliott, KS, Fu, M, Frayling, TM, Groves, CJ, Gwilliam, R, Scott, LJ, Voight, BF, Hattersley, AT, Hu, C, Morris, AD, Ng, M, Palmer, CNA, Tello-Ruiz, M, Vaxillaire, M, Wang, CR, Stein, L, Chan, J, Jia, W, Froguel, P, Elbein, SC, https://www.research.ed.ac.uk/portal/en/publications/linkage-disequilibrium-mapping-of-the-replicated-type-2-diabetes-linkage-signal-on-chromosome-1q(e3048fb7-fb45-45a4-adef-3367096d4bad).html in 3,179 type 2 diabetes case and control subjects from eight replicated linkage has failed to identify common variant signals variants within the genomic intervals representing replicated linkage signals can be considered to have raised variants within a region of replicated type 2 diabetes clusters of SNPs showed association signals that approached or exceeded "region-wide" significance thresholds. diabetes in samples from populations with replicated evidence of linkage Wellcome Trust Case Control Consortium: Genome-wide association study Genome-wide association analysis identifies loci for type 2 diabetes and work_qd5oxtscm5akjcukdlffphuzre debilitating growths that can transform into malignant peripheral nerve sheath tumors (MPNST), a main cause of chemical compound that inhibits tumor cell growth. Moreover, Cpd21 can reduce MPNST burden in a mouse allograft model, underscoring the compound''s potential E and F, dose-response curves of Cpd21 treatment on human MPNST cell lines, cells, compared with sMPNST and MPNST from cis-Nf1f/f;p53f/f mice. H, soft agar assay of Cpd21-treated (0.25, 0.5, 1, 2.5, or 5 mmol/L) sMPNST cells sMPNST cells were treated with DMSO, D, or with Cpd21 (0.25, 0.5, 1, 2.5, or 5 mmol/L) for 24 hours and RNA harvested for qRT-PCR for cyclins (B), cdks (C), or E, Western blot analysis for cyclin D1 in sMPNST cells that were treated with DMSO, D, or Cpd21 (0.25, 0.5, 1, and 2.5 mmol/L). We examined Cpd21-treated sMPNST cells for apoptosis by studies of dual LY294002 and Cpd21 treatment to MPNST cells work_qdrxfd3igfhvpoqwjbu57oym7i need any reminders from Trump since this fundamentalist Christian seems naturally Trump has been proclaimed as a messenger of God by his evangelical Christian base Lago chefs into a Kool Aid Unsweetened Sharkleberry Fin Powdered Drink Mix. Social life is heterogeneous and Trump and his critics certainly inhabit separate orders For Trump''s base, the world is driven by the ''deep state'' which is set up There is some work being done on a responsible use of technology by different religious Rather than concentrating on managing time and relationships, we should work on using and applying technology to create meaning between the owners of the means of technological production and those struggling for a socialist alternative to capitalism (McLaren and Jandrić 2020b)? On a fundamental level, Donald Trump does not believe in America: ''God complex'' https://www.rawstory.com/2020/02/on-a-fundamental-leveldonald-trump-does-not-believe-in-america-god-complex-author-justin-frank/. Why religion is the best Hope against trump. Capitalism''s political servants: Trump and Johnson. https://www.rawstory.com/2020/02/on-a-fundamental-level-donald-trump-does-not-believe-in-america-god-complex-author-justin-frank/ https://www.rawstory.com/2020/02/on-a-fundamental-level-donald-trump-does-not-believe-in-america-god-complex-author-justin-frank/ https://www.counterpunch.org/2020/02/11/capitalisms-political-servants-trump-and-johnson/ https://www.counterpunch.org/2020/02/11/capitalisms-political-servants-trump-and-johnson/ work_qeu4doyrtrf6jfy5dnozhzgmcu sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_qfrgkzpihrbcvmgrhtpljp3rbu University of California, Los Angeles (UCLA) Semel Institute of Neuroscience and Human Behavior, David Geffen School of Medicine, Los When a child receives a diagnosis of a neurodevelopmental disorder, the first questions posed by advances in genetics, animal models, mechanismdriven biomarker development, and targeted intervention design have illuminated the path toward themes that are common across this group of disorders that can provide insight into disease mechanisms and targeted treatments. genetically and phenotypically distinct disorders that there is convergence on molecular and neurodevelopmental pathways, despite extreme genetic specific molecular, cellular, and circuit-level impairments that lead to the core deficits of ASD, namely, After careful characterization of the mouse phenotype, rationally designed treatments for ASD can be intervention research in ASD and related developmental disorders. series of flexible, evidence-based strategies are tailored to the specific needs of a child). Health grant K23MH094517 (Jeste) and National Institute of Child Health and Human Development grant work_qgklopr3wjczvoyyxhqbp7zvyq Plasminogen activator inhibitor type 1 gene is located at region human gene for plasminogen activator inhibitor type 1 (PAII) of human and mouse somatic cell hybrids with a PAIl cDNA In family studies using this polymorphism, genetic linkage was likely order of these loci is EPO, PAIl, PON, (MET, CF), with (RFLP) for PAIl and analyzed genetic linkage between the mapping using DNA panels of hybrid cell lines and RFLP The chromosomal localization of the human gene for PAII was identified 2. Sublocalization of the human PAIl gene on chromosome the only human chromosomal region these cells have in common is 1. Portion of human chromosome 7 retained in mouse-human hybrid cell lines used for sublocalization of the PAIl gene by Southern In parentheses are indicated other human chromosomes (or derivatives) present in the respective cell lines. the PAIl probe was used to test for linkage between PAII and work_qhrp75u3zfdgfbb2a4iz72iroy sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219651199 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:37 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_qhz3megs75dnbpw64ze5ypv55a Further data for qualitative and subgroup analysis were also acquired, including number of patients, aneurysms, and studies included, patient age, time to follow-up, Studies were included if they provided data regarding accuracy of MRA for detecting residual aneurysmal flow, as defined Table 1 Sensitivity and specificity for time-of-flight magnetic resonance angiography (TOF-MRA) and contrast-enhanced (CE)-MRA versus digital Table 2 Subgroup analysis of different treatment techniques comparing sensitivity and specificity of time-of-flight magnetic resonance Figure 3 Pooled sensitivity and specificity for aneurysm recanalization for cases of flow diversion and stent-assisted coiling. CE, constrast-enhanced; GRADE, Grades of Recommendation, Assessment, Development, and Evaluation; MRA, magnetic resonance angiography; TOF, time-of-flight. the lower TOF sensitivity compared with CE-MRA for aneurysms treated with intracranial stents. MRA versus DSA for the follow-up imaging of intracranial aneurysms treated using endovascular techniques: a meta-analysis MRA versus DSA for the follow-up imaging of intracranial aneurysms treated using endovascular techniques: a meta-analysis work_qiaiwdnfvjhbfk3cdaapz3fagy [PDF] Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. Corpus ID: 15990671Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. title={Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy.}, Sort by Most Influenced Papers Reply: autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. View 3 excerpts, cites background and results Brain : a journal of neurology Brain : a journal of neurology Brain : a journal of neurology Autosomal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype Autosomal recessive cortical myoclonic tremor and epilepsy: Association with a mutation in the potassium channel associated gene CNTN2 View 6 excerpts, references background and results View 6 excerpts, references background and results View 6 excerpts, references background and results work_qk2fn4ubdnfdrjqfalb5q7xk7u First World Congress on Psychiatrie Genetics MICHAELMORRIS,Research Senior Registrar, Institute of Medical Genetics, University of ter presentations, many of which reported on the ap that a locus for bipolar affective disorder has been implicated on chromosome 11in one Amish family in genetic linkage is not as close as was originally original finding of linkage to chromosome 11p 15. was presented by the Northwick Park Hospital group. cloned and this gene has been linked to chromosome D2 gene to schizophrenia was presented in a large suggested that genetic models for psychiatric dis Other problems are genetic heterogeneity, the dominant inheritance and a locus on chromosome 18 that the genetic defect causing familial Alzheimer''s disease maps on chromosome 21 has been replicated genetics of narcolepsy showed that it has the tightest HLA linkage of any disease (99% of all subjects with genetically heterogeneous. tests in disorders such as schizophrenia is remote. work_qkfc6bjbbfaqjalmejcpx2p77u Results: We have improved methods for enriching regions of identity-by-descent (IBD) shared Mapping of regions identical-by-descent (IBD) is a powerful method for the identification of genetic loci shared mapping of IBD regions by hybridization to DNA arrays inherent in a multi-step procedure and the lack of appropriate means to map the IBD-enriched DNA. shared IBD locus that includes COL1A2 bearing the disease-causing mutation and additional loci that may be relevant to OI etiology. After tagging, the DNAs are mixed, denatured and reannealed to form hybrid fragments of different types as shown in Figure 1. The resulting IBD-enriched DNA is generically amplified, labelled and mapped by two-colour hybridization to genomic topographic arrays, using the reannealed Such experiments with pairs of known IBD status validated the enrichment process and the behaviour of immobilized DNA clones. addition, genome-wide mapping of IBD-enriched DNA work_qknf4j2hpbdydh62l5zsecrctm APOC3 null mutation affects lipoprotein profile European Journal of Human Genetics (2010) 18, 1–2; doi:10.1038/ejhg.2009.126; lipoprotein metabolism were cloned, including the genes encoding the apolipoproteins. APOC3 is located in a gene cluster – together sequence variation in the promoters and regulatory elements of APOC3 and APOA5 independently affects triglyceride levels.4 However, heterozygous deficiency of the APOC3 gene screened for mutations in lipoprotein genes. allele frequency (0.028) was strongly associated with low fasting triglyceride levels 800 kb from the APOC3 gene cluster. proximity of the SNPs and the APOC3 gene cluster, and given the phenotype that predicted a function for APOC3, this gene was away from the APOC3 gene cluster was Other genes with an established function in lipoprotein metabolism from rodent studies and also human genetic conclusion of this paper that the APOC3 gene of variation within the APOC3/A4/A5 gene cluster APOC3 deficiency: from mice to man APOC3 deficiency: from mice to man work_qktsodefwjbmrafwtcccxfcy2y locus-specific and genome-wide patterns of natural selection acting on invasive introgression within and among natural populations occupying diverse We quantified genome-wide patterns of admixture across multiple independent hybrid zones of native westslope cutthroat trout and invasive rainbow trout, the world''s most widely introduced fish, by genotyping 339 individuals from 21 populations using 9380 species-diagnostic loci. A significantly greater proportion of the genome appeared to be under selection favouring native cutthroat trout (rather than rainbow trout), and this Furthermore, selection against invasive alleles was consistent across populations and environments, even in those where rainbow trout were predicted selection may favour the introgression of several ''super-invasive'' rainbow trout alleles [28]. data from all 21 populations, there were four SNP loci with significant genomic clines suggestive of selection favouring Locus-specific genomic clines that exhibited outlier patterns of introgression representative of selection favouring (red) and resisting (blue) rainbow trout work_qlnxkowworhf7g47acyzzdlssq SLITRK6 mutations cause myopia and deafness in humans and of WT and Slitrk6-deficient mouse eyes revealed axial length increase in the mutant (the endophenotype of myopia). Taken together, our results showed that SLITRK6 plays a crucial role in the development of normal hearing as High-resolution MRI of WT and Slitrk6-deficient mouse eyes revealed axial length increase results showed that SLITRK6 plays a crucial role in the development of normal hearing as well as vision in SLITRK6 mutations cause high myopia and sensorineural deafness in apparent in newborn mice, as determined in serial sections of freshly frozen eyes (Figure 3), which indicates that SLITRK6 regulates Increased axial length of the eyes of Slitrk6 KO mice. high myopia and sensorineural deafness as the only clinical findings and confirmed a similar phenotype in Slitrk6 mutant mice. myopia — such as cataract, glaucoma, and chorioretinal abnormalities — in either humans or mice; therefore, the Slitrk6 KO mouse work_qmcgzswilnanpe5rkfeecpvuum Using agent-based modeling, Sinclair et al1 have demonstrated the risk that many Texas children face because of their classmates'' religious or philosophical exemptions from measles vaccination. Sinclair et al1 examines just how large these outbreaks could be given current vaccination rates, Texas has already seen 18 cases of measles in 12 counties from January to mid-July 2019. 2019 has been a record year for measles infections in the United States, with 1123 cases reported as 2014 measles outbreak in the Amish population, more than 10 000 individuals were vaccinated with in public health are looking to change state laws regarding vaccine exemptions to increase religious and/or philosophical exemptions to vaccines are present in other states. Measles cases and outbreaks. In a measles outbreak, demand for vaccine spikes. www.npr.org/2019/02/11/692825201/in-a-measles-outbreak-demand-for-vaccine-spikes. https://www.dshs.texas.gov/immunize/school/exemptions.aspx https://www.dshs.texas.gov/immunize/school/exemptions.aspx https://dx.doi.org/10.1371/journal.pmed.1002578 https://dx.doi.org/10.1371/journal.pmed.1002578 https://dx.doi.org/10.1371/journal.pmed.1002578 https://dx.doi.org/10.1371/journal.pmed.1002578 https://www.cdc.gov/measles/cases-outbreaks.html https://www.cdc.gov/measles/cases-outbreaks.html https://www.nytimes.com/2019/04/09/nyregion/measles-vaccination-williamsburg.html https://www.nytimes.com/2019/04/09/nyregion/measles-vaccination-williamsburg.html https://www.npr.org/2019/02/11/692825201/in-a-measles-outbreak-demand-for-vaccine-spikes https://www.npr.org/2019/02/11/692825201/in-a-measles-outbreak-demand-for-vaccine-spikes https://jama.jamanetwork.com/article.aspx?doi=10.1001/jamanetworkopen.2019.9768&utm_campaign=articlePDF%26utm_medium=articlePDFlink%26utm_source=articlePDF%26utm_content=jamanetworkopen.2019.10170 https://jama.jamanetwork.com/article.aspx?doi=10.1001/jamanetworkopen.2019.9768&utm_campaign=articlePDF%26utm_medium=articlePDFlink%26utm_source=articlePDF%26utm_content=jamanetworkopen.2019.10170 https://jama.jamanetwork.com/article.aspx?doi=10.1001/jamanetworkopen.2019.9768&utm_campaign=articlePDF%26utm_medium=articlePDFlink%26utm_source=articlePDF%26utm_content=jamanetworkopen.2019.10170 https://jama.jamanetwork.com/article.aspx?doi=10.1001/jamanetworkopen.2019.9768&utm_campaign=articlePDF%26utm_medium=articlePDFlink%26utm_source=articlePDF%26utm_content=jamanetworkopen.2019.10170 https://jama.jamanetwork.com/article.aspx?doi=10.1001/jamanetworkopen.2019.9768&utm_campaign=articlePDF%26utm_medium=articlePDFlink%26utm_source=articlePDF%26utm_content=jamanetworkopen.2019.10170 https://jama.jamanetwork.com/article.aspx?doi=10.1001/jamanetworkopen.2019.9768&utm_campaign=articlePDF%26utm_medium=articlePDFlink%26utm_source=articlePDF%26utm_content=jamanetworkopen.2019.10170 https://jama.jamanetwork.com/article.aspx?doi=10.1001/jamanetworkopen.2019.9768&utm_campaign=articlePDF%26utm_medium=articlePDFlink%26utm_source=articlePDF%26utm_content=jamanetworkopen.2019.10170 https://jama.jamanetwork.com/article.aspx?doi=10.1001/jamanetworkopen.2019.9768&utm_campaign=articlePDF%26utm_medium=articlePDFlink%26utm_source=articlePDF%26utm_content=jamanetworkopen.2019.10170 work_qnej7bkumbgm7owwnedkshm5ri sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219647034 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:32 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_qntohjw6mbg4bofx6cuxtnhb6y with advanced stage lung cancer, we observed statistically significant main effects for IL-8 �251 TA (coeff = 0.221; genetic test results to first-degree relatives among women Summary: These data suggest that the majority of firstdegree relatives were informed of women''s test results. Increases Risk of Death from Breast Cancer of breast cancer death was two times greater in women associated with an increased risk of breast cancer mortality. DNA repair capacity (DRC) on lung cancer risk in an was associated with increased risk of lung cancer, and that the test results increased their own risk for cancer, aand g-tocopherol and lung cancer risk in a case-control below average weight with breast cancer risk (RR, 1.02; 95% associated with risk of postmenopausal breast cancer, and Associated with Risk of Sporadic Breast Cancer in NonHispanic White Women Aged V55 Years significantly associated with increased risk of breast cancer work_qqtgkcewwzep7gvxe6gxx6bm2i A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome he term hereditary spastic paraplegia (HSP) is used to pure forms of the disease, whereas autosomal recessive HSP association with well characterised complicated HSP phenotypes.8 9 Spartin, the protein product of SPG20 mutated in product of the SPG21 gene mutated in Mast syndrome. N The hereditary spastic paraplegias (HSPs) are a Abbreviations: HSP, hereditary spastic paraplegia a novel locus for autosomal recessive complicated HSP to a mutations were identified in affected individuals in any of additional autosomal recessive HSP families for linkage to recessive spastic paraplegias: analysis of 106 patients in 46 families. Spastic paraplegia and OXPHOS impairment caused by mutations in A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. complicated form of hereditary spastic paraplegia associated with dementia. spastin, mutated in hereditary spastic paraplegia. kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia work_qr32rjxlhnbmjpkggdixwwesfq The evolutionary history of membrane-integral pyrophosphatases supports Na+ as the ancestral coupling ion in membrane bioenergetics molecular mechanism of function of SSSF proteins. molecular modeling constrained by experimentally determined intramolecular distances and template restraints derived from the tenhelix core of the vSGLT crystal structure [2]. Laboratory of Biochemistry and Molecular Biology, University of Bari, To date eleven disorders are known to be caused by defects of mitochondrial carriers, a family of proteins that shuttle a variety of metabolites Membrane-integral pyrophosphatases (mPPases) are primary H+E-mail: masahiro.ito@toyo.jp activity requires all of these proteins, suggesting that Mrp antiporters Therefore, we purified and reconstituted the Mrp antiporter from alkaliphilic Bacillus pseudofirmus The purified Mrp samples were reconstituted into artificial membrane vesicles (liposomes) with FoF1-ATPase from Bacillus sp. and functional reconstitution of a Mrp antiporter. Department of Biochemistry and Molecular Biology, release of V1-ATPase from the membrane integral Vo, and the activity work_qrl7c6xjefdtpbsmeatj3n5f4a Background-—The effect of physician-staffed helicopter emergency medical service (HEMS) on ST-elevation myocardial infarction The purpose of this study was to evaluate the characteristics and outcomes of physicianstaffed HEMS (Physician-HEMS) versus non-physician-staffed (Standard-HEMS) in patients with STEMI. Methods and Results-—We studied 398 STEMI patients transferred by either Physician-HEMS (n=327) or Standard-HEMS (n=71) The Standard-HEMS group was more likely than the PhysicianHEMS group to receive nitroglycerin (37% vs 15%; P<0.001) and opioid analgesics (42.3% vs 21.7%; P<0.001) during transport. After adjusting for age, sex, Killip class, and transport time, patients transferred by Standard-HEMS had increased risk of any serious in-hospital adverse event (odds ratio=2.91; 95% CI=1.39–6.06; P=0.004). P rimary percutaneous coronary intervention (PCI)improves survival in patients with ST-elevation myocardial infarction (STEMI) and is the optimal treatment when Helicopter Emergency Medical Services (HEMS) are commonly used to transport patients from non-PCI centers (ie, transport time, patients transferred by Standard-HEMS had an work_qv5nt4xcfbcw7dwkgifdx2bwbm The principal aim of the present study was to test whether the geographical distribution of suicides committed in Sardinian over the bipolar disorder, and depression was reanalyzed and compared with the distribution of municipalities where suicides were committed The present study confirms the peculiar geographical distribution of major psychoses and suicide in Sardinia. The peculiar epidemiology of mood disorders and suicide across Sardinian sub-regions has long intrigued clinicians The peculiar epidemiology of mood disorders and suicide across Sardinian sub-regions has long intrigued clinicians To avoid bias potentially associated with outliers, we also calculated cumulative suicide incidence in Sardinian subregions, similar to those used in the 1965 survey on psychiatric hospitalizations [4]. We compared the incidence of hospitalizations for the three principal psychiatric disorders (schizophrenia, bipolar The hospitalization rates for schizophrenia and bipolar disorder across the 33 historical sub-regions correlated with The comparable geographical distribution between hospitalizations and suicide rates found in the present study is work_qvtwpv2ptjetddxoap2j2tl3km Genome-wide Scan for Type 2 Diabetes Loci in Hong type 2 diabetes in a Hong Kong Chinese population. studied 64 families, segregating type 2 diabetes, of which Simulation studies showed genome-wide significant evidence for linkage of the chromosome 1 region linkage for type 2 diabetes (LOD � 3.09, Pgenome-wide � genetic basis of type 2 diabetes in Hong Kong Chinese and dichotomous traits of type 2 diabetes and GIT included 64 and 102 families, Regions showing nominal evidence of linkage to type 2 diabetes in Hong Kong Chinese* in 179 families, including those involved in type 2 diabetes and GIT studies. Regions showing nominal evidence for linkage with type 2 diabetes in Hong Kong Chinese and their replications in other studies SCAN FOR TYPE 2 DIABETES IN HONG KONG CHINESE SCAN FOR TYPE 2 DIABETES IN HONG KONG CHINESE fine-mapping linkage studies of type 2 diabetes and glucose traits in the work_qwwjn4ohjzhtfjld3xgceyajpy President''s page: the epidemic of type 2 diabetes and obesity in the U.S.: cause for alarm The prevalence of type 2 diabetes was 7.8% among U.S. adults from Americans diagnosed with type 2 diabetes jumped an the American Academy of Pediatrics and American Diabetes Association, which early this year issued recommendations concerning the prevalence of diabetes among children. disease is now known simply as "type 2 diabetes" to Diabetics have a two to three times greater risk of death College of Cardiology and the American Diabetes Association recently confirmed what physicians have long known: According to the Surgeon General''s 1996 report on physical activity and health, 60% of American adults are not physically active on a The New York Times, has written that today''s U.S. children diets, physicians can help patients avoid obesity and diabetes An American epidemic: diabetes. diagnosis of coronary artery disease in people with diabetes. Americans need better diet, new health study reports. work_r4h3stu72fc53diyzko4vcrlg4 sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219632601 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:15 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_r4jgnluf7jb6toi7sfoypj3fty For example, the classic twin study by Bertelproach for diagnostic classification of mood disorders different classes of mood disorders and also may discover that particular (and currently unexpected) pheno-Although most epidemiological studies suggest that has the search for genes responsible for any other human Order Amish community suggest possible SML inheritance only for BP-I, not for other mood disorders (Paulstrait. such a model is unlikely for broadly defined mood disor-of studies suggesting localization of BP genes on chromosomes 11 (among the Old Order Amish) and X ders. mood disorder that reflect a common genetic etiologyand when linkage had only been demonstrated for a (1996), in in mapping genes for complex traits are somehow particular to BP, perhaps because of the glib references thata study of two extended pedigrees from the genetically Am J Med Genet 67:445 – 454 bipolar affective disorder in the Old Order Amish. work_r4y7i7xkmfchzmeo3aurckyu6a Background: Elevated serum bilirubin has been associated with reduced risk of cardiovascular disease (CVD). and CVD risk factors, including obesity, cholesterol, measures of vascular function and blood pressure. Results: Serum bilirubin levels were inversely associated with levels of several cardiovascular disease risk factors, reported associations of serum bilirubin levels to cardiovascular disease risk factors, including total cholesterol In this study, we describe use of the Mendelian randomization approach to evaluate relations of serum bilirubin levels with CVD risk factors and subclinical bilirubin levels and CVD risk factors without consideration for UGT1A1*28 genotype with the presumed Mendelian randomization estimate of the serum bilirubin-CVD risk factor correlation was obtained by dividing Estimates of associations of CVD risk factors with bilirubin and with UGT1A1*28 genotype were evaluated Association of serum Bilirubin levels with CVD risk factors Association of serum Bilirubin levels with CVD risk factors Association of serum Bilirubin levels with CVD risk factors: Mendelian randomization approach work_r5jzvawmjfbphdmqat3er2msvq Dive into the research topics of ''The overseas Taiwanese in Belize: An exploration of a south-south development project in a Belizean context''. Popma, MDN & Roessingh, CH 2010, ''The overseas Taiwanese in Belize: An exploration of a south-south development project in a Belizean context'', Journal of Enterprising Communities: People and Places in the Global Economy, vol. The overseas Taiwanese in Belize: An exploration of a south-south development project in a Belizean context. The overseas Taiwanese in Belize: An exploration of a south-south development project in a Belizean context. The overseas Taiwanese in Belize: An exploration of a south-south development project in a Belizean context. The overseas Taiwanese in Belize: An exploration of a south-south development project in a Belizean context. The overseas Taiwanese in Belize: An exploration of a south-south development project in a Belizean context. The overseas Taiwanese in Belize: An exploration of a south-south development project in a Belizean context. work_r6q7r2ffjndcldkhdl5fkpluue sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219643885 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:28 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_rczlvqtz2vgd5jjl3dfu2wtveu Albert David, Pierre Bitoun, Didier Lacombe, Jean-Claude Lambert, Annie Nivelon, McKusick-Kaufman syndrome (MKKS) is years of age), postaxial polydactyly, obesity, nephropathy, and mental disturbances, or, occasionally, mental MKKS are hydrometrocolpos and polydactyly "hydrometrocolpos-polydactyly syndrome". renal dysplasia, retinal degeneration, and mental impairment,11 12 reported in more than 500 obesity, and the ERG, at the age of 1 year, confirmed retinal dysfunction. the visual field were noted at the age of 2 years. BBS phenotype associated with vaginal atresia, the diVerential diagnosis of BBS and MKKS. BBS are unavailable routinely, genetic counselling for parents of newborns with hydrometrocolpos and polydactyly should be much more Family studies of congenital heart disease II: a syndrome of hydrometrocolpos, postaxial polydactyly and congenital heart Table 2 Reported cases of vaginal atresia in BBS 36, case 3 Vaginal atresia detected at age 13 diVerences among patients with Bardet-Biedl syndrome Bardet-Biedl syndrome after renal transplantation. McKusick-Kaufman and Bardet-Biedl syndromes: are they work_rdpc3orpsfckxjtzmrhgciwzjq addition, the efficacy of specific therapeutics may be influenced by the microbiome and novel bacterialbased therapeutics should be considered in future clinical studies. Sokolowska, Milena; Frei, Remo; Lunjani, Nonhlanhla; Akdis, Cezmi A; O''Mahony, Liam (2018). Sokolowska, Milena; Frei, Remo; Lunjani, Nonhlanhla; Akdis, Cezmi A; O''Mahony, Liam (2018). microbiome in the gut and the respiratory tract of asthma Development of the early life gut microbiome is influenced by microbiota has been consistently associated with an increased risk of asthma later in life. The composition of the airway microbiome develops exponentially very early in life and later in life can be influenced by the environment, health status and age. The deliberate restoration of lung and gut microbiota through the use of prebiotics; probiotics or synbiotics is one potential strategy currently being assessed. suggests that microbiome-related functions might affect responsiveness to corticosteroid treatment in asthma patients microbiome in patients with severe asthma: associations with disease work_rdyppa4isra3dorthbk5454hem 1Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, Caspr2 protein has been suggested to be associated with the Gilles de la Tourette syndrome, a we describe a familial balanced reciprocal translocation t(7;15)(q35;q26.1) in phenotypically normal The 7q35 breakpoint disrupts the CNTNAP2 gene, indicating that truncation of this gene does Keywords: Caspr2; chromosome 7; CNTNAP2; cortical dysplasia-focal epilepsy syndrome; Gilles de la Tourette la Tourette syndrome (GTS, OMIM 137580).6 CDFE is breakpoint disrupts the CNTNAP2 gene, but the translocation carriers do not present clinical features of GTS. Figure 1b) was detected through a systematic re-examination of balanced reciprocal translocation carriers in Denmark.11 The family history revealed that the translocation breakpoints truncating the CNTNAP2 gene. the present translocation family indicates that disruption disrupted in a family with Gilles de la Tourette syndrome and Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome work_reubw7z5nveapjefh6gw3uayfa [PDF] Heritability of serum sodium concentration: evidence for sexand ethnic-specific effects. Corpus ID: 976306Heritability of serum sodium concentration: evidence for sexand ethnic-specific effects. title={Heritability of serum sodium concentration: evidence for sexand ethnic-specific effects.}, Although disordered water balance is common and morbid, little is known about genetic effects on serum sodium concentration at the population level. Heritability and individuality of the plasma sodium concentration: a twin study in the United States veteran population. Functional polymorphisms affecting the clinically important arginine-137 residue of AVPR2 do not influence serum sodium concentration at the population level. View 8 excerpts, cites background and results View 1 excerpt, cites background Semantic Scholar is a free, AI-powered research tool for scientific literature, based at the Allen Institute for AI. By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_rf5wultyjbbhdbuye7fvyuy3mm Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families Ellis-van Creveld Syndrome: Mutations Uncovered in Ellis-van Creveld (EvC) syndrome is a rare, autosomal recessive disorder characterized by short stature, short limbs, We report EvC syndrome in two unrelated Lebanese families both having homozygous mutations in the EVC2 gene, c.2653C>T (p.(Arg885*)) and c.2012 2015del (p.(Leu671*)) in exons Ellis-van Creveld (EvC) syndrome, also known as chondroectodermal and mesoectodermal dysplasia, was first described In this paper, we report EvC syndrome in two unrelated Figure 3: Clinical photos of patient from Family 1 depicting short upper and lower limbs and polydactyly. Figure 4: Clinical photos of patient from Family 2 showing conical shaped teeth and polydactyly. "Ellis-van Creveld syndrome: a rare clinical entity," Journal of Medical Journal Case Reports, vol. "Ellis-van Creveld syndrome: report of 15 cases in an inbred "Ellis-van Creveld syndrome: a report of two cases," Pediatric Ellis-van Creveld syndrome in a Chinese family," American work_rfwaq4vdsnafroaa3pwflf5vuu evidence supports a significant genetic component in the susceptibility to develop BPAD. study, the unaffected, mentally healthy individuals in these families also were followed, many for a period of years past the age gene(s) modifying the relative risk for affective disorder is unknown (2) we relied exclusively on model-free linkage analyses. Model-free linkage analyses were conducted by using the two-point affected sib pair analysis program Because there were a few sibships with incomplete marker information, marker allele frequencies were estimated from the entire Old Order Amish family linkage analyses using SIBPAL and GH-PLUS (24) were performed by using mental health wellness as the linkage phenotype Order Amish families susceptibility alleles for BPAD probably mentally healthy individuals who share marker alleles that should protective alleles, these individuals do not manifest BPAD. individuals inherit disease susceptibility alleles but do not manifest the phenotype because of the simultaneous presence of alleles could affect the clinical manifestations of BPAD in the Old work_rg4kvdzdifgwfb5nodhrnvs3hu sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219640923 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:25 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_rgvwce4bmfb53bqwzt5aqq7abq The Rural Midwest since World War II ed. The Rural Midwest since World War II ed. Anderson, ed., The Rural Midwest since World War II. Most of the Midwest''s population is urban, and less than ten percent of rural people live on The Rural Midwest since World War II contains a rich variety of essays exploring how this region has changed in the past seven decades. rural Midwest contradicts the supposedly static world of small towns and The demand for workers helped pull nonwhite laborers into the Midwest and changed the demography of rural areas. The Midwest experienced great economic change after World War II. Anderson explains the important role of the government in rural areas The fi nal chapters trace the postwar history of various ethnic and religious groups— African Americans, Latinos, and the Amish. Debra Reid explains how rural black midwesterners faced The Rural Midwest since World War II is a superb collection of essays that work_ritradgdrne4tbauzp44eqqhsy sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219637072 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:20 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_rjvca5ijo5albm4d3ndljgd2ui sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219648550 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:34 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_rkjwbay5prh7hlu36dshfppp5u perceived personal moral value by minimizing feelings of guilt over one''s responsibility for a negative Keywords: dual-motive model, scapegoating, guilt, personal control, climate change (Campbell & Sedikides, 1999; Kelly & Michela, 1980; Mezulis, individual level: maintaining one''s perceived moral value by minimizing guilt over one''s wrongdoing, and maintaining one''s perceived personal control by explaining a negative outcome in one''s are predicated on feeling personal control over a particular negative outcome, we expect that attributing blame to a viable scapegoat for that outcome will cause participants to report both reduced Indirect effects of threat condition on scapegoating through feelings of personal guilt and perceived whether the effects of value threat and control threat on scapegoating found in Study 1 are differentially moderated by affirmation inductions designed to restore perceptions of one''s moral Holbrook, & Visser, 2000; Schuldt, Konrath, Schwarz, 2011). Among participants in the value threat condition, perceived personal control was indeed lower after exposure work_rma46ww2vzcdvid53ihbqxmqce EOGT-CDG Skin (aplasia cutis congenita), skeleton (terminal transverse limb defect) EGF domain-specific O-GlcNAc transferase ALG1-CDG Brain, and variable involvement of eyes, heart, liver, beta cells, kidneys, gonads Mannosyltransferase 1 Type 1 ALG2-CDG Brain, eyes, skeletal muscles, neuromuscular junction (congenital myasthenic syndrome) Mannosyltransferase 2 Type 1 ALG6-CDG Brain, and variable involvement of eyes, gastrointestinal system, liver, heart and skeleton Glucosyltransferase 1 Type 1 ALG8-CDG Brain, and variable involvement of eyes, skin, liver and intestine Glucosyltransferase 2 Type 1 ALG9-CDG* Brain, liver, kidneys, and variable involvement of adipose tissue, heart, skeleton, intestine Mannosyltransferase 7/9 Type 1 ALG13-CDG Brain, eyes, liver UDP-GlcNAc:Dol-P-GlcNAc-P transferase Type 1 X-linked PIGA-CDG* Brain, heart, liver, kidneys, skin UDP-GlcNAc:phosphatidylinositol N-acetylglucosaminyltransferase subunit DPM1-CDG Brain, eyes, skeletal muscles GDP-Man:Dol-P-mannosyltransferase 1 (Dol-P-Man synthase 1) Type 1 SLC35A2-CDG Brain, eyes, gastrointestinal system, skeleton UDP-galactose transporter Type 2 X-linked COG7-CDG Brain, skeleton, skin, gastrointestinal system including liver, heart COG component 7 Type 2 work_rnq6rnb2rncc5jlldwm2ksr7mq [PDF] Management of Lymphomas: Consensus Document 2018 by an Indian Expert Group | Semantic Scholar Corpus ID: 52046037Management of Lymphomas: Consensus Document 2018 by an Indian Expert Group title={Management of Lymphomas: Consensus Document 2018 by an Indian Expert Group}, R. Nair, Abhishek Kakroo, +27 authors Vivek Radhakrishnan The current consensus statement, developed by experts in the field across India, is intended to help healthcare professionals manage lymphomas in adults over 18 years of age. Figures, Tables, and Topics from this paper View 1 excerpt, cites background Mantle cell lymphoma: evolving management strategies. Indian Council of Medical Research Consensus Document for the Management of Non-Hodgkin''s Lymphoma (High Grade) Mantle Cell Lymphoma: A North Indian Tertiary Care Centre Experience Guidelines for the investigation and management of mantle cell lymphoma By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_rntmabixpvfnzj2kmrj2xmgive Long-term exposure to particulate air pollution and brachial artery flow-mediated dilation in the Old Order Amish stable rural population using location-specific moving-average air pollution exposure estimates indexed to the date Methods: We measured endothelial function using brachial artery flow-mediated dilation (FMD) in 615 communitydwelling healthy Amish participants. Associations between PM exposures and FMD were evaluated using linear mixed-effects month moving-average estimates of PM2.5 and PM10 exposure are associated with impaired endothelial function in two recent epidemiologic studies that used PM air pollution exposure modeling similar to that in the present Endothelial function was measured by brachial artery reactivity test (BART) to assess FMD using standardized Table 2 Associations of PM2.5 and PM10 exposure metrics and FMD (%), across all participants and by sex, for increases in significant inverse association between long-term exposure to PM2.5 and FMD: For a one unit increase in normalized 12-month moving-average PM2.5, FMD work_ro6xiuan6ngx5awuy7y273w5eu Abstract HIV-infected patients are known to be at risk for The D:A:D (Data Collection in Adverse Effects of AntiHIV Drugs) study showed that risk for cardiovascular event In HIV-infected patients, the risk of myocardial a found that HIV-infected men had a greater extent of noncalcified coronary artery plaque (NCAP) [13]. been associated with an increase in cardiovascular mortality in HIV-infected individuals [20], and MCP-1 has in HIV-related atherosclerosis, such as chronic inflammation, immune activation, and effects of ART are not calculated with available risk scores. underestimation of true cardiovascular risk in the HIV-infected population. HIV infection and antiretroviral therapy: Multicenter AIDS Cohort Study. coronary heart disease risk in HIV-infected men and women. Risk of myocardial infarction in patients with HIV infection Association between HIV infection, antiretroviral therapy, and risk of Coronary Artery Disease in Patients with HIV Infection Coronary Artery Disease in Patients with HIV Infection Coronary Artery Disease in Patients with HIV Infection work_rouuffdcnnclxitdwwzdylajue Peter Durda,6 Bing Liu,7 Sandy Ott,8 Danielle Gutman,9 Lital Sharvit,9 Robert Kaplan,10 Because a GH receptor exon 3 deletion (d3-GHR) appears to modulate GH sensitivity in humans, we hypothesized that this polymorphism could play a analysis of males in all cohorts resulted in a significant positive trend with age (26% increase; P = 0.007), suggesting sexual dimorphism for GH action in longevity. variant is a common genetic polymorphism that modulates GH responsiveness throughout the life span and positively affects male longevity. the d3-GHR deletion allele and longevity among the cohorts studied. homozygote GHR deletion polymorphism increased in males in all cohorts, suggesting gender specificity. Prevalence of d3-GHR homozygotes in relation to age groups in: (A) Ashkenazi Jew (AJ) (female and male of Cohen, Control of aging and longevity by IGF-I signaling. P. Bougnères, The exon-3 deletion of the growth hormone receptor (GHR) gene still has a work_rpjfvfbgeba2vh2amg2wwoiruq A comparison of periodontal disease among rural Amish and non-Amish adults Bagramian RA, Farghaly MM, Lopatin D, Sowers MF, Syed SA and Pomerville Periodontal disease can be more efficiently studied within a homogeneous population where genetic influences and lifestyles are similar enough to negate of periodontal conditions for Amish were 1.35 mm for attachment loss, 2.59 For non-Amish, the means were 1.03 mm for attachment loss, 2.38 mm for to report periodontal disease data collected for Amish ( = 330) and nonAmish controls ( = 215) over the entire or non-Amish, oral health care; knowledge of periodontal disease, whether or Mean periodontal disease measures by age among Amish Mean periodontal disease measures by age among non-Amish out that this lack of knowledge is evident in the reported oral hygiene practices of Amish, who show low behavioral scores when asked about actual Both measures of periodontal disease, attachment loss of 4 mm or pocket work_rpjsez4l7vcshjbq5vqgj3g76m Non-contrast cardiac computed tomography can accurately detect chronic myocardial This study evaluates whether non-contrast cardiac computed tomography (CCT) can detect chronic myocardial infarction (MI) in patients with irreversible perfusion these non-contrast CCTs was visually detected based on the hypo-attenuation areas (dark) in Non-contrast CCT accurately detected MI in 57 patients with irreversible perfusion defect on MPI, yielding a sensitivity of 92%, specificity of 72%, negative predictive value Non-contrast CCT has an excellent agreement with MPI in detecting chronic This study highlights a novel clinical utility of non-contrast CCT in addition to assessment and normal myocardium on non-contrast CCT image to assess mean HU. defect on MPI, non-contrast CCT accurately detected CCT scans to detect chronic MI in patients with irreversible perfusion defect on MPI. Accuracy of non-contrast CCT to detect chronic MI as compared to irreversible perfusion Non-contrast cardiac computed tomography can accurately detect chronic myocardial infarction: Validation study work_rpoacg5oqzdaxnlzdq5lazwuuu The lung and gut microbiome are factors in asthma risk or protection. that connect the lung and gut microbiota to asthma development and severity. • The mechanisms through which the microbiome relate to asthma involve immune development, The impact of airway bacteria on development of asthma may indeed relate to early life of the early life gut microbiome and development of allergic diseases. microbial diversity within stool samples at 1 week and 1 month of life was related to risk for asthma risk of asthma development through mechanisms that may involve the gut microbiome58-60. Evidence supporting SCFA as protective against asthma includes a study of the gut microbiota exposures are related to asthma through direct immune effects or metabolic products, could a probiotic Risk for asthma is strongly related to both the lung and gut microbiome. from asthma include those that support gut microbial early development and diversity and incorporate work_rpr2rp723bd7rmwhq4q7vpxdai Development and evaluation of 200 novel SNP assays for population genetic studies of westslope cutthroat trout and genetic identification of related taxa population genetic studies of westslope cutthroat trout and DNA sequence data were collected and screened for single nucleotide polymorphisms (SNPs) in westslope cutthroat putative SNPs in westslope cutthroat trout were identified by restriction-site-associated DNA sequencing, and seven of mykiss SNP assays that were variable within westslope cutthroat trout and 12 of genetic markers available for the study of westslope cutthroat trout and closely related taxa and includes many markers Keywords: admixture, hybridization, KASPar, Oncorhynchus clarki, population genomics, rainbow trout, SNP, Taqman, SNP loci were developed based on restriction-site-associated DNA (RAD) sequence data generated using rainbow The designed assays were then evaluated by genotyping samples from 11 cutthroat trout collections and a single rainbow trout collection (Table 1). 0.096 to 0.333 indicating that heterozygosity within individual westslope cutthroat trout populations is quite variable. work_rtcv73s3r5clbn6kgb7s3fhuk4 sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219645174 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:30 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_ru3hm6nb7vcwpj2yzbynshyadm Chemometrics: Data Analysis for the Laboratory and Chemical Plant | Semantic Scholar Corpus ID: 30644901Chemometrics: Data Analysis for the Laboratory and Chemical Plant title={Chemometrics: Data Analysis for the Laboratory and Chemical Plant}, author={David E. journal={Technometrics}, One of the popular books now is the chemometrics data analysis for the laboratory and chemical plant. This is why, searching for this popular book in this website will give you benefit. Methods Citations Citation Type Citation Type Sort by Most Influenced Papers Sort by Citation Count View 10 excerpts, cites background and methods View 1 excerpt, cites background View 1 excerpt, cites background View 2 excerpts, cites methods Booth, Paul R. Sebastian, David E. Semantic Scholar is a free, AI-powered research tool for scientific literature, based at the Allen Institute for AI. By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_rv5vcs2lg5ejxdpam5kw2trvyy Successful Tricuspid Valve Replacement in a Patient with Severe Pulmonary Arterial Hypertension and Preserved Right Ventricular Systolic Function Successful Tricuspid Valve Replacement in a Patient with Severe Pulmonary Arterial Hypertension and Preserved Right A 56-year-old patient with severe pulmonary hypertension developed severe tricuspid regurgitation, right-sided heart failure, She was transferred for possible lung transplant and/or tricuspid valve surgery. that tricuspid valve replacement despite pulmonary hypertension could be performed. An echocardiogram revealed right ventricular hypertrophy with severe tricuspid regurgitation (TR) and preserved right ventricular (RV) systolic function. Figure 1: (a) Transthoracic 2D echo parasternal long-axis systolic view of a flail anterior tricuspid valve leaflet (TV). (b) Tissue Doppler profile of the tricuspid valve annulus demonstrates a systolic velocity of thought that TV surgery in patients with severe pulmonary RV systolic function and tricuspid annular in patients with pulmonary arterial hypertension," Journal of right ventricular function using two-dimensional echocardiography," American Heart Journal, vol. work_rvix3sliynbgnjytunsne5swuq Sherman, "Equal Educational Opportunity: Ideal or Ideology," Proceedings o f the Philosophy of Outcomes-Based Conceptions of Equal Educational Opportunity," E d u c a t i o n a l Theory 6Onora O''Neill, "Opportunities, Equalities, and Education," Theory and Decision 7, of Outcomes-Based Conceptions of Equal Educational Opportunity." 3. Equal educational opportunity a n d children. equality o f educational o p p o r t u n i t y vis-a-vis cultural minorities? Amish children are p r o v i d e d an equal educational o p p o r t u n i t y o n l y principle o f equality at o n e level, namely, equal respect for cultural identity, Amish children forgo equality at a n o t h e r level, namely, equality o f educational o p p o r t u n i t y . work_rwnwlcmqwnervgtq3ci2w5hoyq sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219647748 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:33 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_s3bls43g2jdujp6vf4umh6ozh4 work_s3fnoyizgfewtoht4tj2n7hsla Resignation Syndrome: Is it a New Phenomenon or Thomas (Editor) (2017) Resignation Syndrome: Is it a New Resignation Syndrome: Is it a New Phenomenon or is it Catatonia? Resignation Syndrome: Is it a New Phenomenon or is it Catatonia? Cases of refugee children becoming apathetic, then stuporous, and then unconscious, began to be reported in the early 2000''s, the number of cases swelling to more than 400 by 2005 (Aviv, 2017). The children, generally between ages 8–15, who exhibited the apathetic syndrome The full-blown onset of his resignation syndrome occurred several months later when the migration board because resignation syndrome has not been diagnosed in unaccompanied minors (Sallin et al., 2016). To date there has been little research on resignation syndrome, but Sallin et al. since the syndrome has only been found in refugee children Some children with resignation syndrome have remained New cases of resignation syndrome of catatonia, the suffering of these children and their families work_s4ubrk5esrcbhdfhygh2ti5rwe sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_s5myd5nkzzfqfdqrtzido3w6ma In a mouse line with the entire cardiac TnI gene deleted, a partial destruction of the slow TnT gene promoter produces a knockdown effect. The double transgenic mice exhibited decreased expression of slow TnT mRNA and protein in adult diaphragm muscle. As a consequence of slow TnT deficiency, the sTnT-KD diaphragm muscle contained a higher proportion of fast TnT, decreased slow TnI and binds the N-terminal domain of TnI independently of Ca2þ. TnH, and transmitted to the C-lobe of F1, resulting in a change in the interaction of the TnI inhibitory domain and actin. Decreased Fatigue Tolerance In Diaphragm Muscle Of Slow Troponin T Knockdown Mice Tracking of Qdot Conjugated Titin Antibodies in Single Myofibril Stretch Experiments Reveals Ig-domain Unfolding at Physiological Sarcomere Lengths Constitutive Phosphorylation of Cardiac Myosin Binding Protein-C Increases the Probability of Myosin Cross-bridge Interaction with Actin Obscurin Interacts with a Novel Isoform of Myosin Binding Protein C-Slow to Regulate the Assembly of Thick Filaments work_s77cyjmzdjf6rpjpn6klxsqxti sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_s7vunol2ujhz7psiq7xciogk2e sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219640924 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:25 If you need further help, please send an email to PMC. Include the information from the box above in your message. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_sb2m4qn2ybc6xfx5dbbtglue6i sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219651656 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:38 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_scnfkxfggvfulnavebr3mqre4m Incidental COVID-19 related lung apical findings on cTa findings of code patients who had a stroke between assessment of cOViD-19 related lung findings on cTa COVID-19 pneumonia: axial CTA image of the lung apex in a patient patients with COVID-19 related lung findings had a component patients had COVID-19 related apical findings with all (18/18) in incidental findings in the apices of the lungs on CTA probably associated with an increase in COVID-19 cases during the stroke had lung apical findings on CTA related to COVID-19 evaluate the incidence of COVID-19 related apical lung findings on head and neck CTA scans during acute stroke workup. Incidental COVID-19 related lung apical findings on stroke CTA during the COVID-19 pandemic Incidental COVID-19 related lung apical findings on stroke CTA during the COVID-19 pandemic COVID-19 related lung findings on head and neck CTA COVID-19 related lung findings on head and neck CTA work_sdkjp7kj2bfpzm5e3g25qk7hsi Separation in Metastable and Unstable Polymer Blends For the off-critical blend, qm is independent of quench time, regardless In this letter, we present time-resolved small angle neutron scattering (SANS) data from two polymer blends region: a critical blend that is quenched directly into shown in Fig. 2a, where we show the SANS profiles during a quench from the one-phase region to 2.34 kbar and the critical blend during an unstable quench to 1.66 kbar the critical blend during the 1.66 kbar quench. the critical blend during the 1.66 kbar quench. Quenches of the critical blend into the unstable region of Quenches of the critical blend into the unstable region of case for the off-critical blend, phase separation kinetics function of the quench depth, κ, for the critical and offcritical blends. wave-vectors on quench depth are similar for the critical and off-critical blend except for the fact that the work_sezo445b3rht5gtp6emrczyvam sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219639228 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:23 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_sfjop5zs6fbtfjinwzf7getzta type of skeletal dysplasia resulting in short-limbed We report two patients with CHH caused by the two novel RMRP mutations c.94_96dupAGT sibling was a 15-year-old girl with short fingers at Network (ESDN) clinical-radiographic review Cartilage-hair Hypoplasia Caused by Novel Compound Heterozygous RMRP Mutations and*Department of Clinical Genetics, Fetal Care Research Foundation, Chennai, India. Cartilage-hair hypoplasia is a rare, autosomal recessive skeletal dysplasia, caused by mutations in the RMRP gene. diagnosis confirmed two novel RMRP mutations in a compound heterozygous Key words: India, Metaphyseal chondrodysplasia, RMRP mutation, Skeletal Zankl, Dr Sheila Unger and the ESDN clinical-radiographic was involved in the RMRP mutation analysis and the Thereby the novel RMRP mutations Mutations in the RMRP gene lead to a analysis of the RMRP gene in the affected siblings identified two novel mutations, c.94_96dupAGT RMRP gene sequence analysis confirms a cartilage-hair Key words: Acute rheumatic fever, Arthritis, Atypical Cogan''s syndrome, work_sieveejfcjdjzhzr76okplezci sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219646089 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:31 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_simumtkwk5eizakjsswoju5xwq subsequently infected cells with Respiratory Syncytial Virus (RSV) and innate anti-viral genes Priming epithelial cells with IFNγ reduced RSV viral load. Key Words: IFNγ, cytokine priming, RIG-I, epigenetic regulation of innate immune response, immune genes that may be responsible for the priming effect of IFNγ on the respiratory IFNγ upregulated the expression of RIG-I compared to both control cells and RSV A further increase in RIG-I expression by IFNγ-primed RSVinfected cells, was also observed and confirmed by RT-qPCR (FIGURE 3). data indicated a long term effect of IFNγ priming in PBECS and suggest epigenetic regulation differences in H3K9me3 were detected at the RIG-I promoter in IFNγ primed cells following 01294 to IFNγ primed cells led to a significant increase in RIG-I expression at both the RNA enhanced RIG-I mRNA expression following IFNγ priming correlated with epigenetic changes significant effects on RIG-I expression only in IFNγ primed cells. upregulate RIG-I expression when cells were also IFNγ primed. work_sjimet2uxzcldn7v6u24zj72d4 night shift work, transmeridian travel, televisions and computers have dramatically altered the timing of light used to entrain night, which has become pervasive, may disrupt both circadian timing and mood. Emerging evidence from the past few years suggests that exposure to light at night hypothesis that nighttime exposure to light disrupts circadian organization and contributes to depressed mood. Exposure to artificial light at night (LAN) hypothesis that nighttime exposure to light disrupts circadian circadian system provoke mood disturbances in some individuals.15–17 Any unnatural timing of light exposure, or lack of work is bright light exposure during the night to phase shift the depression-like behavior provoked by circadian disruption and Dim light at night provokes depression-like behaviors and reduces CA1 dendritic spine density in depressive behavior associated with light at night. depressive-like behaviors provoked by chronic light at night. Figure™2Potential pathways through which light at night (LAN) may influence mood. work_sjkl22dy6ne4vn53re7zfr2zl4 Cerebral Venous Sinus Thrombosis, a Nonenhanced CT Diagnosis? Retrospectively evaluate the density of cerebral venous sinuses in nonenhanced head CTs (NCTs) and correlate these with the presence or absence of a cerebral venous sinus thrombus (CVST). (HUs) of thrombus when present as well as that of normal superior sagittal and sigmoid sinuses were measured. standardised measurement of≥1.5 are associated with high probability of CVST on NCT. measurements may help improve sensitivity and specificity of NCT for venous sinus thrombosis and avoid potentially unnecessary Cerebral venous sinus thrombosis (CVST) is an uncommon CVST: cerebral venous sinus thrombosis. applicable, and the Hounsfield Units (HUs) of the corresponding cerebral venous sinus in the NCT were measured. In a recent small study, cerebral venous sinus measurements in NCT were shown to be of value in detecting CVST assessing cerebral venous sinuses on NCT, HU measurements CVST: Cerebral venous sinus thrombus useful in diagnosing acute cerebral venous sinus thrombosis," work_sk4q4vqhuzeuvhtvk4pclde24e To cite this article: Julien-François Gerber (2020) Degrowth and critical agrarian studies, The article argues that critical agrarian studies (CAS) and degrowth can This article argues that critical agrarian studies (CAS) and degrowth can bring essential Weil''s notion of rootedness within limits, Alexander Chayanov''s multiple balances of reproduction, Joseph Kumarappa''s democratic decentralisation, Nicholas Georgescu-Roegen''s Today, very different political movements and regimes share the imaginary of permanent economic growth. Some items (like local products) will surely be consumed and produced much more in a degrowth society, and many economic activities will increase in His work on agrarian economies (Georgescu-Roegen 1960, 1965) signalled the beginning of his radical epistemological critique of economics based on the principles of thermodynamics, ecology and the role of institutions. This article argued that CAS and degrowth can enrich each other, not only in the problematization of the causes, nature and effects of capitalist growth in agriculture, but also Degrowth Movements." Ecological Economics 161: 330–333. work_sk53trpbkraldko2azioednkme (TOLAC) as a means of increasing vaginal births after cesarean (VBACs) and decreasing the high US cesarean birth rate and its consequences (2010 National A birthing center serving Amish women CONCLUSIONS Both the culture of the population served and a number of factors relating to the management of labor at the birthing center have affected be 56.2%.4 The 2007 primary cesarean rate was 23.4%.5 The vaginal birth the LaFarge Medical Clinic developed a low-cost, community-based birthing center in the offi ce staffed by Previous cesarean Trial of labor expected by women and supported by clinician Preterm labor Previable fetus delivered at birth center (included in mortality statistics); For women with twins, birthing center delivery Planned home delivery with intrapartum transfer to birthing center to the low rate of cesarean delivery among women Labor support may also be a factor in the low cesarean rate at the LaFarge Birthing Center. 115: Vaginal birth after previous cesarean delivery. work_smw7zov5yjhlbeu2ke2esgl4pq barrier in the free energetics of vapor tube formation as a function Although it has been recognized that water density fluctuations must play a crucial role in nucleating vapor tubes (14, 15), These isolated cavities are stabilized by enhanced water density fluctuations, and their growth is uphill in free energy. isolated cavities are already larger than the corresponding critical vapor tubes predicted by classical theory. perform molecular dynamics simulations of water confined between two roughly square hydrophobic surfaces of size L = 4 nm, Kink Separates the Vapor Tube and Isolated Cavity We simulate the SPC/E (extended simple point charge) model of water in confinement between two square hydrophobic surfaces of size L = 4 nm, for a range In contrast, for larger d values, the barrier occurs in the vapor tube segment of the simulated free energy profile and corresponds to the classical critical work_sptsc46tr5d35lyba54f2pxg3q sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219643378 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:28 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_sq5fbzalf5hubnmpgvdctxwjdi that the high level of social support in the Amish population might mitigate the bereavement effect. We considered remarriage and the number of surviving children as additional potential modifiers of the We show below examples of how we represented the survival data for CPH analysis using a time modelling standard approach is to convert the couple''s demographic information, date of death, date of birth, remarriage and the number of surviving children in columns 1907 at age 47; got remarried; the number of surviving children=3 and eventually died on 1 January 1923 the spouse.2 5 20 21 In nearly all age at widowhood categories, the bereavement effect is stronger in widowed number of surviving children and mortality in husbands study,8 in each case, the higher number of surviving children was not significantly associated with lower mortality change for any of the HRs related to the number of surviving children was 0.03 (data not shown). work_sqxob7oiabbsjeegz7pl4bo7hy Using cell-lineage tracing, we identify a population of GAP43+ PLP+ precursors in embryonic nerve roots as the cells of origin for these tumors and report a non-germline neurofibroma model for preclinical drug screening to identify effective therapies. nal nerve roots are the cells of origin for plexiform neurofibroma However, the exact developmental stage and embryonic location of the Schwann cell lineage that initiate neurofibroma formation remain unknown. In genetic mouse models, Nf1 ablation in embryonic Schwann cell lineage (PLP, Krox20, and DHH positive cells) Plexiform Neurofibromas Are inside the Embryonic PLP+ Nerve Root Cells might be the embryonic neurofibroma tumor cells of origin. the embryonic nerve roots as the cells of origin for plexiform Cells of Origin in the Embryonic Nerve Roots for NF1-Associated Plexiform Neurofibroma Cells of Origin in the Embryonic Nerve Roots for NF1-Associated Plexiform Neurofibroma Loss of Nf1 in Embryonic DRG/Nerve Root Neurosphere Cells Gives Rise to Classic Plexiform Neurofibroma In Vivo work_stnz4drbebduppmezhxjhdnfie Society membership is the most effective way to engage in politics, from our texting platform WisMed Voice to in-person meetings with legislators and participating in Doctor Day. BeSTRONG Accelerate your personal and professional growth by joining your peers at our education and leadership development events or on WisMed Community—a members only website built to match you to peer groups with similar interests. Wisconsin Medical Society, Foundation and WisMed Assure staff are working remotely. Dial the Society''s main number 866.442.3800 or email membership@wismed.org and you will be directed to the appropriate staff/department. While the COVID-19 vaccination process continues to develop, the Society has created a webpage for county-specific information. We have been advocating for physicians with state and local public health entities to ensure independent group 1a physicians and staff can access COVID-19 vaccinations where and when available. Ashland-Bayfield-Iron County Medical Society Meeting 2021 Wisconsin Medical Society Annual Meeting Wisconsin Medical Society Board of Directors © Wisconsin Medical Society. work_suzqvdmk4ja6jl2azmkny3ou5u sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219648698 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:34 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_swfhn6asifhzba5vhukh4qoodq games:science:science_magazine_1964-1965:root:data:science_1964-1965:pdf:1964_v145_n3637:1714234.pdf [Ganino] GANINO User Tools Site Tools Search Tools Register Register Log In Log In Recent Changes Recent Changes Media Manager Media Manager Sitemap Sitemap Trace: games:science:science_magazine_1964-1965:root:data:science_1964-1965:pdf:1964_v145_n3637:1714234.pdf This topic does not exist yet You''ve followed a link to a topic that doesn''t exist yet. If permissions allow, you may create it by clicking on Create this page. Page Tools Show pagesource Show pagesource Old revisions Old revisions Backlinks Backlinks work_swgotey4wjdsjdg4hd5qyd5tgq Online Mendelian Inheritance in Man is a database of human genes and genetic disorders. Online Mendelian Inheritance in Man is a database of human genes and genetic disorders. expanded to become the central authority on phenotypic and mapping data for human genes. For instance in February 2000, OMIM celebrated passing the 1,000 disease-gene entries mark. OMIM also curates a gene map and a ''morbid map''; the latter lists genetic The annotation of gene and disease entries in OMIM is second to none, as a result of their policy of on the identity of genes from the emerging human genome and on their associations with disease from disease loci could be placed on a genetic map given the data already in OMIM. Disease-associated mutations are also catalogued in the Human gene mutation database (HGMD), The NCBI Genes and disease map provides a friendly introduction to the study Human gene mutation database Genes and disease map work_swgs6djcrzagdc2o2jwbjv2z7a The literature about 24 peaceful peoples was examined to determine if their ways of conflict resolution differ While the strategies for managing conflicts employed by these peoples are comparable to those used in many other small-scale societies, their worldviews of peacefulness and the structures they use to reinforce those world-views do distinguish them from other other adults (except for the threat of ostracism); they handle conflicts with outside societies in the same peaceful resolution of disputes, and tolerance for violence.3 The Semai are among more than 40 societies that have evolved highly peaceful Since much of the literature of conflict resolution is based on the experiences of the thousands of relatively violent societies, a balance is different, but overlapping, lists of these peaceful, peaceable, nonviolent, or low-conflict societies (e.g. Bonta, 1993; Fabbro, 1978; Howell & The 24 peaceful societies use a variety of strategies to try to prevent, control, manage, and resolve the conflicts that do come up, such as the work_swqxw34jszcitbn7r7uvj62bzu tions for screening the general population aged 45 years for diabetes every years to assess the diabetes screening practices in this population. Table 1—Characteristics of respondents aged 45 years reporting screening for diabetes in a p p roach for the diagnosis of asymptomatic diabetes in patients with cystic fib rosis are pre s e n t e d . diabetic CF patients with normal HbA1 c, obesity observed in type 2 diabetic patients the other hand, patients with type 2 diabetes had significantly lower insulin secretion (212 ± 85 pmol l 1 m i n 1, P = insulin sensitivity in diabetic subjects. and glucose effectiveness in type 2 diabetic and glucose effectiveness in type 2 diabetic both of which can be safely used by diabetic patients during exposure to moderately high altitudes. patients with type 2 diabetes who were c o n t rol in patients with type 2 diabetes. work_sx6hxzgflbazfohbhxge6p7l64 levels of BRD4 for the investigation of emerging therapeutic interventions such as proteolysistargeting chimeras (PROTACs) that simultaneously target bromodomain activity and BET BRD4 protein levels synergistically sensitized MPNST cells to diverse BET inhibitors in culture BRD4 Levels Underlie Resistance to BET Inhibitor-Induced Death in MPNST Cells levels post-treatment can mediate resistance in BET inhibitor-treated MPNST cells. BRD4 Depletion Overcomes Resistance to BET Inhibitor-Induced Cell Death in MPNST. induced upon BRD4 inhibition by shRNA or small molecule BET inhibitors in MPNST cells Genetic Inhibition of BRD4 Overcomes MPNST Cell Resistance to Diverse BET Inhibitors These data suggest that BRD4-high cancer cells that display relative resistance to small synthetic lethality between Brd4 depletion and BET inhibitor treatment in MPNST. inhibitors in cell culture models of MPNST inhibition suggests some BRD4-high tumors may be BRD4 Depletion Overcomes Resistance to BET Inhibitor-Induced Cell Death in Genetic Inhibition of BRD4 Overcomes MPNST Cell Resistance to Diverse BET work_sy6vhuexcvdi3h4okv53r5mknu KEY WORDS: MENNONITES, POPULATION GENETICS, BLOOD GROUPS Tables 2 and 3 s u m m a r i z e the phenotypic counts a n d gene frequencies for blood groups, s e r u m proteins, and erythrocytic proteins in three O n the basis of the b l o o d group frequencies, the Goessel a n d Henderson populations show genetic similarity a n d b o t h groups differ slightly For example, in the M N S system b o t h Goessel a n d Meridian Mennonites differ f r o m the gene frequencies observed in Western Phenotypes and Gene Frequencies for Blood Group Antigens Figure 1 shows the population structure in the reduced-space genetic m a p of the three Kansas and Nebraska M e n n o n i t e c o m m u n i t i e s work_szamk5seqjafxpouudx3wj64di sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_szbp4fhbmzeipmn5hue66mlujy sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219637259 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:20 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_t2hilj6sqnhirgdclb7jhve4tq Institutional Repository Home Institutional Repository Home View Item View Item View Item Persistent Link: https://etd.library.vanderbilt.edu/etd-03262013-124650 Our approach to overcome the problem of heterogeneity is to study a population isolate, the mid-western Amish communities of Indiana and Ohio. Through these analyses, we identified a region on chromosome 5q31.3 that shows evidence of association (p-value < 1 x 10-4) and linkage (multipoint HLOD = 3.77). We also found further evidence of linkage on chromosomes 6 and 10 (multipoint HLOD 4.02 and 4.35 respectively). Show full item record Files in this item MFDavis_thesis.pdf PDF This item appears in the following collection(s): Connect with Vanderbilt Libraries Current Students Faculty & Staff International Students Prospective Students Gifts to the Libraries support the learning and research needs of the entire Vanderbilt community. Learn more about giving to the Libraries. Become a Friend of the Libraries Quick Links Staff Directory Vanderbilt Home work_t2vyxdr3hranjkk5em3y7wnsu4 asthma, eczema, and allergic rhinitis, is defined as a disorder of the IgE response to common allergens such as Burrows et al5 investigated the association of self-reported asthma or allergic rhinitis with serum IgE levels conclusion reached was that asthma is almost always associated with some type of IgE-related reaction and therefore has an allergic basis. relationship between IgE levels and asthma has been provided by Sears et al who studied the relationship between serum total IgE levels and airway responsiveness to methacholine challenge in the presence or absence of asthma serum IgE levels are not clear, with studies showing variably families "adjusting" total IgE for atopy, they reported a Association of asthma with serum IgE levels and skin test reactivity Confirmation of genetic linkage between atopic IgE responses and Genetic linkage of T-cell receptor at/6 complex to specific IgE responses. work_t32aq22hx5cpjaoanvx7bmjnoa Simvastatin prevents and reverses chronic pulmonary hypertension in newborn rats via pleiotropic inhibition of RhoA signaling Preventive or rescue treatment of chronic hypoxiaexposed animals with simvastatin decreased pulmonary vascular resistance, right ventricular hypertrophy, and pulmonary arterial remodeling. limits RhoA/ROCK activity in the chronic hypoxia-exposed lung, thus Hypoxia-exposed, vehicle-treated pups had significantly elevated RhoA activity in the lung relative to normoxia controls at hypoxia-exposed pups treated with simvastatin had significantly reduced GTP-RhoA content when given as either preventive or as rescue therapy (Figs. Lungs of hypoxia-exposed, vehicle-treated pups had significantly increased ROCK activity Simvastatin prevented chronic hypoxia-induced pulmonary hypertension. Simvastatin prevented chronic hypoxia-induced pulmonary arterial remodeling. Rescue treatment with simvastatin significantly increased distance run in females and males compared with hypoxia-exposed, vehicle-treated controls (Fig. 5E). Treatment with simvastatin decreased pulmonary HIF-1� levels in chronic hypoxiaexposed animals but did not affect lung content of RhoA or of work_t3fjvzge55hftdptbinvjj5qcu Keywords: allergic disease; microbiome; hygiene hypothesis; food allergy; asthma; atopy; a potential link between food allergy and the gut microbiome [6]. obesity and allergic diseases (including asthma and food allergy). A study of 82 children with AD examined fecal microbiome signatures for food allergy. early life gut microbiota composition and the resolution of cow''s milk allergy reported that enrichment of the gut microbiota can influence the development and course of food allergy. are limited studies investigating the role of prebiotic supplementation on food allergy prevention. for prevention of food allergies and other allergic conditions was not observed with probiotic use during factors for atopic disease and food allergy development. have provided direct evidence that gut microbiota differ in individuals with food allergy. Effect of Environmental Exposures on the Composition of the Gut Microbiome and Atopic Diseases Effect of Environmental Exposures on the Composition of the Gut Microbiome and Atopic Diseases work_t3pwj4f7fvaktohdjs5hwbtnzm Paradoxical evolution of a cerebellar tuberculosis abscess after abscess most commonly follows a pattern of continued reduction in size. It was noted that the tuberculosis abscess had grown in size 14‑month follow up MRI showed that the abscess had nearly resolved. Conclusion: Rarely, the pattern of CNS tuberculosis abscess evolution may include possibility of asymptomatic abscess enlargement, close clinical and imaging follow Central nervous system (CNS) tuberculosis abscess case of a pan‑sensitive CNS tuberculosis abscess affecting Paradoxical evolution of a cerebellar tuberculosis abscess after surgical drainage and antibiotic therapy. up MRI showed that the abscess size was decreased to tuberculosis abscess, more cases need to be evaluated decreasing abscess size on anti‑TB drug treatment.[5] Rarely tuberculosis lesions, CNS abscesses have been notoriously cause of tuberculosis abscess enlargement, several theories enhanced axial T1 at 11-month follow up showed decreased size (a) Contrast enhanced axial T2 FLAIR at 4-month follow up shows work_ta74s7d2orazhjqqc65ponhd6u The objective of this study was to compare fusion rates in patients undergoing MITLIF with either rhBMP-2 or cellularized bone matrix (CBM). Methods: We conducted a single surgeon retrospective cohort study of patients who underwent MI-TLIF with A multivariate regression analysis was performed to identify patient factors that were predictive of radiographic Results: A total of 93 fusion levels in 78 patients were reviewed. fusion rate was 68% in the CBM group (32/47 levels) and 78% in the rhBMP-2 group (36/46) (P ¼ .35). Conclusions: There were no differences in radiographic fusion and rate of revision surgery in patients who Keywords: minimally invasive transforaminal lumbar interbody fusion, bone morphogenetic protein, cellularized bone matrix, stem cells, lumbar spine fusion, rhBMP-2, TLIF Minimally invasive transforaminal lumbar interbody fusion (MI-TLIF) is a well-accepted surgical fusion success and complications in patients undergoing MI-TLIF surgery with use of rhBMP-2 work_tahtnbrprve4hnkjgroa5eqydu Association studies were carried out with Type 2 diabetic patients (n=188) and age-matched normoglycaemic subjects was carried out to test associations with other diabetes related parameters like BMI, glucose and insulin concentrations. disease-associated gene variants are found more frequently in for Type 2 diabetic patients and associating co-morbidities. Type 2 diabetes, obesity and insulin resistance. our studies to the gene variants at positions Asp2674, Arg2828 We have also reconstructed haplotype combinations of the different gene variants This report describes association studies with gene variants in the coding region of the ALMS1 gene in Type 2 diabetes. The absence of significant associations suggest that the variants observed in our studies are not major factors in the pathogenesis of Type 2 diabetes mellitus or obesity. ALMS1 gene are not associated with Type 2 diabetes, BMI or other diabetes related parameters in a population based study Type 2 diabetes has been studied in this population work_tb3vqizb3re7hgd426gror23be [PDF] COL4A1 Is Associated With Arterial Stiffness by Genome-Wide Association Scan | Semantic Scholar Corpus ID: 7858430COL4A1 Is Associated With Arterial Stiffness by Genome-Wide Association Scan title={COL4A1 Is Associated With Arterial Stiffness by Genome-Wide Association Scan}, Background—Pulse wave velocity (PWV), a noninvasive index of central arterial stiffness, is a potent predictor of cardiovascular mortality and morbidity. We conducted a genome-wide association study to identify single-nucleotide polymorphisms (SNPs) associated with PWV. Lack of association between arterial stiffness and genetic variants by genome-wide association scan A genetic risk score for fasting plasma glucose is independently associated with arterial stiffness: a Mendelian randomization study Genome-wide association study identifies loci for arterial stiffness index in 127,121 UK Biobank participants Genome-wide association analysis of pulse wave velocity traits provide new insights into the causal relationship between arterial stiffness and blood pressure Genome-Wide Association Scan Shows Genetic Variants in the FTO Gene Are Associated with Obesity-Related Traits work_tg2bd5c5tzbe7o6mtjvhehpcw4 mutations, including missense, splice-site, frameshift,(1986) Molecular genetics of inherited variation in human This hypothesis does not require theRobinson WP, Lalande M (1995) Sex-specific meiotic recompresence of multiple mutations, since the genetic princi-bination in the Prader-Willi/Angelman syndrome imprinted Hum Mol Genet 4:801 – 806 ples of digenic inheritance should apply to all populaRossiter JP, Young M, Kimberland ML, Hutter P, Ketterling tions with LGMD caused by calpain-3 mutations. RP, Gitschier J, Horst J, et al (1994) Factor VIII gene inverIn the Amish of northern Indiana, Richard et al. the presence of the R769Q mutation, looking for eviDNA Studies of Limb-Girdle Muscular Dystrophy dence of phenotypically normal R769Q homozygotes. members of 16 previously studied nuclear LGMD2ALimb-girdle muscular dystrophy type 2A (LGMD2A) is Indiana Amish population, nor do they exclude the possibility of a second locus for digenic inheritance in the Am J Hum Genet 58:241 – 243posure to mutagens) or endogenous (unequal distribution of mutator genes) factors. work_ti6x32bebfbarirxto74iw6gxe Reciprocal relationships based on mutual goals, respect and trust are key to maintaining working journeys to identify the components, barriers and rewards of reciprocal relationships are discussed. reciprocal relationships; research collaboration; academic–community partnerships here that focus on Community–Academic Partnerships in Research and Public Health. components of the creation of successful community–academic partnerships in research and public willing community partners who saw opportunity with enthusiastic academic partners, a new researchers study their own community. provides both academic and community partners Community–Academic Partnerships in Research and Public Health 57 by key informant interviews, focus groups, a Photovoice project, and community forums, as well as This was a successful partnership and a research study that had an Collecting health data from community members places the academic researcher in health services has on their trust in their research academe and the community requires trust and two different communities and with the academic work_ti7xargf6vh55e3wdifzxslrxa magnet discs but the pressure applied by these devices is pressure clips for the treatment of earlobe keloids We describe here a simple and easy to use device to measure pressure applied applied by various pressure clips used in ear keloid pressure therapy. By using a force sensitive resistor (FSR), the pressure applied gets converted into voltage using variation in the design whereas the pressure applied by binder clips and magnet discs was not Clips; device; earlobe; magnetic discs; measure; pressure therapy; splint a simple device to measure the pressure applied by these pressure applied by various clips and magnet discs on the Figure 2: Ear clip applied on earlobe with FSR to measure pressure Sasidharan, et al.: Novel method to assess pressure of clips on ear keloids Sasidharan, et al.: Novel method to assess pressure of clips on ear keloids Sasidharan, et al.: Novel method to assess pressure of clips on ear keloids work_tibafyt4ezemxlzuyiwwnescky Byler-like familial cholestasis in an extended children from two consanguineous marriages in an Irish kindred is described. acid analysis revealed a non-specific pattern consistent with chronic cholestasis. Keywords: familial cholestasis, Byler disease. disease was clinically and biochemically identical to that of the five living children described the specimens from the older children (patients The pattern of bile acid excretion was consistent with chronic cholestasis rather than an Byler-like familial cholestasis associated with 226 Bourke, Goggin, Walsh, Kennedy, Setchell, Drumm 226 Bourke, Goggin, Walsh, Kennedy, Setchell, Drumm 226 Bourke, Goggin, Walsh, Kennedy, Setchell, Drumm intrahepatic cholestasis and hepatocellular injury consistent with the toxic affect of accumulated bile acids. Progressive familial cholestatic cirrhosis and bile acid metabolism. Progressive familial intrahepatic cholestasis secretion in children with progressive familial intrahepatic Byler-like familial cholestasis in an extended kindred Byler-like familial cholestasis in an extended kindred Byler-like familial cholestasis in an extended kindred work_tk2ohbncobgjlhpnzo5onhheaa tice of medicine and the life of the practitioner in the pulls the reader into his life and provides a very enjoyable reading experience. from the events of the day back into memory of earlier pages will reveal the daily life of a country doctor, and its author as physician, husband, father, and person of It is a book about community and a deepening reader will experience the events and emotions of the A physician with community practice background of establishing practice, home, and family. Anyone who seeks to understand the practice of medicine in community would benefit from reading this book should be read by persons responsible for planning, shaping, financing, or regulating community Patients Are a Virtue: Practicing Medicine in the Pennsylvania Amish Country. practiced and cared for his patients. supportive family and community for both patient and from experiences with his Amish patients that illustrate to a competing physician in the community. work_tksa67pllvhwrax2fl5dua2cse Material and Methods The clinical trials relevant to norepinephrine versus dopamine in treatment of septic shock were electronically searched in the databases of Pubmed, Embase, the Cochrane Library, Web of Science, Google scholar and CNKI. Objective The aim of this study was to investigate the clinical significance of serum homocysteine (Hcy) as a biomarker for early diagnosis of diabetic nephropathy (DN) in type 2 diabetes mellitus (T2DM) patients. In case of problems, please contact the Managing Editor of this journal (jedrzej.daszkiewicz@degruyter.com). Unpublished material: Submission of a manuscript implies that the work described is not copyrighted, published or submitted elsewhere, except in abstract form. The corresponding author grants the journal the license to use of the article, by signing the License To Publish. The Editors reserve the right to decline the submitted manuscript without review, if the studies reported are not sufficiently novel or important to merit publication in the journal. work_tmnqkdv6gjaa5fwhqmkqb245xi In the present study, we introduce a paired-image radiation transport (PIRT) model that can provide a more realistic Voxels within the resulting NMR microimages were segmented and labeled into regions of bone trabeculae, endosteum, active marrow, and inactive marrow. linear chord lengths through both bone trabeculae and marrow cavities, the fraction of a particle''s kinetic energy absorbed fractions to skeletal tissues are potentially overestimated in CBIST models for higher-energy �-emitters. image of the entire skeletal site outlining regions of trabecular spongiosa, cortical bone, and surrounding tissues and spongiosa of the CT macroimage, tracking within the NMR microimage is halted and the particle is transported within a homogeneous region of cortical bone defined only by the larger voxels Electron-absorbed fractions to active bone marrow within L4 vertebrae for 3 source tissues: TAM, TBV, and TBS. Electron-absorbed fractions to active bone marrow within proximal femur for 3 source tissues: TAM, TBV, and TBS. work_tn2mjdz2ejayxnqs6mulg4cyf4 The economics and political science of religion have blossomed into full-fledged fields science of religion, but two stand out: economic history and Islam. Islam, while Becker et al.''s (2020) "Religion in Economic History: A Survey" analyzes 1A reference list of the papers in Figure 1 is available at my website, https://www.jaredcrubin.com/links. studying the economics or political science of religion. economics and political science of religion has always been there for students. work done in the economic demography of religion; Iyer''s (2002) book Demography Economics and political science of religion articles published in top journals, 2000–2020. religious and many other effects when it comes to fertility decisions. and religion in "Fertility, Migration, and Altruism." Their paper attempts to provide an in the economics of religion [especially Iannaccone (1992)]. Iyer, Sriya (2016) The new economics of religion. Introduction to the special issue on the economics of religion Introduction to the special issue on the economics of religion work_tnsybizppragzngalc6zgacdie Alpha-carotene · Carotenoids · Genome-wide association study · CAPN2 · CAPN8 · PRKCE · The aim of this study was to identify genetic associations with serum α-carotene concentrations using the genome-wide association study (GWAS) approach. Results: Genome-wide significant associations with α-carotene concentrations were observed for loci on Although observational studies have consistently associated eating of carotenoidcontaining fruits and vegetables with lower risk of a variety of chronic diseases, interventions with carotenoid-rich diets and supplementation have not shown consistent health data from the National Health and Nutrition Examination Surveys revealed an inverse association between serum α-carotene concentrations and the risk of all-cause mortality as well The goal of this study was to identify novel genetic associations with serum α-carotene Manhattan plot for the genome-wide association study of serum α-carotene concentrations in the There was no evidence of an association between this locus and α-carotene concentrations in our study population (lead SNP: rs6564851, p = 0.28). work_tpiqgspaqvfeng2fovbximt4lm Association of Cytochrome P450 2C19 Genotype With the Antiplatelet Effect and Clinical Efficacy of Clopidogrel Therapy Design, Setting, and Participants In the Pharmacogenomics of Antiplatelet Intervention (PAPI) Study (2006-2008), we administered clopidogrel for 7 days to 429 genome-wide association study was performed followed by genotyping the loss-offunction cytochrome P450 (CYP) 2C19*2 variant (rs4244285). Main Outcome Measure ADP-stimulated platelet aggregation in response to clopidogrel treatment and cardiovascular events. Conclusion CYP2C19*2 genotype was associated with diminished platelet response to clopidogrel treatment and poorer cardiovascular outcomes. platelet function in response to clopidogrel has been associated with lipophilic statins, calcium channel blockers, proton pump inhibitors, St John''s antiplatelet effect19-23 and with increased cardiovascular events in patients receiving clopidogrel.18,24-26 Indeed, follow-up genotyping indicated that the common lossof-function CYP2C19*2 variant was associated with clopidogrel response and replication of the initial association between CYP2C19*2 genotype and clopidogrel response, the Baltimore Sinai We report the first genome-wide association study of clopidogrel response work_tqddavldsrhszcqpvak4judcla related individuals, FAM-MDR was found to outperform PGMDR in terms of power, in most of the considered simulated by gene-gene interactions, we applied FAM-MDR to examine data on glucose area-under-the-curve (GAUC), an endophenotype of T2DM for which multiple independent genetic associations have been observed, in the Amish Family This application reveals that FAM-MDR makes more efficient use of the available data than PGMDR PGMDR, the current state-of-the-art MDR method for family data, using both simulations and a practical dataset. application of FAM-MDR to determine epistasis in family studies FAM-MDR is an acronym for FAMily Multifactor Dimensionality Reduction and is an adaptation to related individuals of the simulated datasets for Model M27, p~0:25, g2~0:1 and h2~0:8, for the analysis without main effects correction. Without main effects correction, FAM-MDR on the original individuals are available for FAM-MDR without main effects Without correction for main effects, FAM-MDR on Without correction for main effects, FAM-MDR on work_ttxjqborx5au7htsr53y5dqldu NIHR BioResource Rare Diseases project RG65966; Newlife Foundation for Disabled Children, Grant/Award Number: to AC EB; Retina UK; University of Exeter, single patient with biallelic loss of function (LOF) SCAPER variants patients with SCAPER syndrome include cataracts (in two individuals) Our clinical and genetic studies in six affected individuals, including additional new clinical details for Patient 3, (Carss et al., 2017) take described in eight individuals from two consanguineous Bedouin families of the same tribe in southern Israel, were also identified as a consistent feature in the two Amish siblings, confirming the association of of both Amish siblings, have not been previously noted in other individuals with SCAPER variants. c.2023-2A>G SCAPER gene variant has also been reported previously in association with RP, ADHD, and mild ID (Tatour et al., features of SCAPER syndrome patients. genetic testing for this SCAPER variant for Amish individuals with this work_tu4zgevr2vfodg2mxepfrxvuwa sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_tw5kfgvsu5ggdmzbmu46lwexs4 sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219649918 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:36 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_twsq23tvmza2vc5aoao33bijmu A Mems Electrostatic Particle Transportation System Micro Electro Mechanical Systems, 1998. electrostatically transport particles with sizes 5-10pm forces between the particle and the solid surface. surface adhesive forces and particle charging hinder the force on the particle is consistent with our observations transport particles larger than 10 pm such as forced air The adhesion forces between a ym-sized particle and a particle and surface contact areas, experimental results the electrode panel surface, the traveling electric field Fig. 6: Particle transported to edge of electrodes motion was due to DEP force and not just particle and adhesive forces on the particle is the key to from the particle to the electrodes is increased. F,(x,y.p): image force due charges on particle Fig. 9: Schematic of particle forces DEP Force simulation for 8pm SiOz Particle Fig. 10: DEP force on particle the particle is on top of the electrode. between the particle and the insulation surface differ work_txrwgchgrvgzfgmqmnk6dlj3u4 sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219650110 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:36 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_txy2xiyf2fhatko5qnyxir5pmq Apical Hypertrophic Cardiomyopathy Among Non-Asians: A Case Series and Review of the Literature Apical hypertrophic cardiomyopathy (AHCM) has been rarely described in the Western world. Apical hypertrophic cardiomyopathy (AHCM) is found in up two cases of AHCM in non-Asian patients. time of atrial fibrillation diagnosis, transthoracic echocardiogram demonstrated evidence of mild left ventricular hypertrophy. The apical variant of HCM in which left ventricular wall thickening is confined to the most distal region of the apex has been long-term follow up studies have shown co-morbid atrial fibrillation, apical myocardial infarction, ventricular arrhythmia implantation in AHCM patients with family histories of sudden cardiac death. Prevalence, clinical significance, and natural history of left ventricular apical and patterns of left ventricular hypertrophy in hypertrophic cardiomyopathy: morphologic observations and significance as assessed by two-dimensional echocardiography Detection of apical hypertrophic cardiomyopathy by cardiovascular magnetic resonance in patients with non-diagnostic patients with apical hypertrophic cardiomyopathy. and progression of left ventricular hypertrophy in children with hypertrophic cardiomyopathy. work_tyvcj3rq2raaflyksymc4hl7ce sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219649220 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:35 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_u34brqdeszcntgbivjryyljfwq Key words: Minorities, Fertility, Cultural Transmission, Integration Policies. least one child that remains loyal to the parents'' cultural group – we denote this type group; fertility rate and direct socialization effort. integration policy may induce higher fertility rates as individuals would switch from cultural group).16F17 When an individual of type { },i r m∈ has only one child we let Children whose cultural type has not been determined by the direct socialization socialization effort will be higher for two children, is a function of the minority''s size type µ that has two children and chooses the optimal direct socialization level the minority identity this individual chooses a high level of direct socialization. of direct socialization ( ''α α> ), for an α -policy that encourages minority fertility. But, as discussed above, integration policy may change minority''s fertility rate. direct socialization,α , will increase the minority''s growth rate in the following cases: work_u7tnnvy3lbb3xjl6pjkug57hom Structural, transport and optical properties of (La0.6Pr0.4)0.65Ca0.35MnO3 nanocrystals: a wide band-gap magnetic semiconductor Fig. 1 X-ray diffraction pattern of (La0.6Pr0.4)0.65Ca0.35MnO3 nanoparticles sintered at 600 °C, 800 °C and 1000 °C. To study the effect of doping on the crystal structure and lattice distortions, we obtained Raman spectra of Fig. 3 Raman spectra of (La0.6Pr0.4)0.65Ca0.35MnO3 nanoparticles sintered at 600 °C, 800 °C and 1000 °C. Fig. 5 Field cooled temperature dependent magnetization measurements of (La0.6Pr0.4)0.65Ca0.35MnO3 nanoparticles sintered at 600 °C, Fig. 6 (a) Survey scan X-ray photoemission spectroscopy (XPS) for (La0.6Pr0.4)0.65Ca0.35MnO3 nanoparticles sintered at 600 °C, 800 °C and 1000 °C. (e) Deconvoluted peaks of Mn2p region for (La0.6Pr0.4)0.65Ca0.35MnO3 nanoparticles sintered at 600 °C as a representative. (f) Valence band spectra of (La0.6Pr0.4)0.65Ca0.35MnO3 nanoparticles sintered at 600 °C, 800 °C and 1000 °C. 260 K28 but Pr0.65Ca0.35MnO3 shows charge ordered type insulating behavior at low temperatures.35 The primary reason work_uby2bb3iifaxrjobyckqtnpkpe A common variant in the telomerase RNA component is associated with short telomere the effect of common variants in the telomerase RNA component (TERC) gene on telomere length (TL) in the populationbased Health Aging and Body Composition (Health ABC) Study and in two replication samples (the TwinsUK Study and the Methodology: Five variants were identified in the TERC region by sequence analysis and only one SNP was common was replicated in another white sample from the TwinsUK Study (6.9060.03 kbp in 301 carriers compared to 7.0660.03 kbp family-based AFOS and blacks from the Health ABC cohort, although not statistically significant, possibly due to the lower Conclusion: Our study shows a significant association between a common variant in TERC and TL in humans, suggesting *Based on a dominant genetic model for the G allele, adjusted for age, sex, relatedness, telomere length assay batch. variants near TERC are associated with mean telomere length. work_uclz7ulk45dqtgn3p5guu7svae The contribution of social capital to entrepreneurship, understood broadly as self-employment in commercial business, is "the social contexts in which cultural capital supports entrepreneurship, thus concealing the Under these circumstances, common in the world of indigenous minorities,3 social capital does not produce entrepreneurship, which suggests that If entrepreneurship depended only on bonding social capital, indigenous Americans and Canadians would be supremely entrepreneurial. Alaskans abundantly endowed with social capital, and we found Alaska Natives traditionally self-employed in fishing, while commercial entrepreneurship in Old Harbor was Social conditions slowed assimilation (see Befu, 1970), and therewith the transmission of the cultural capital of entrepreneurship, and the formation of bridging relationships between the Euro-American and the Alutiiq people. Alutiiq people used their abundant social capital to catch fish and shoot game, an economic activity all right, but they did not focus on commercial entrepreneurship. work_udkfrcnx2ray5kcsuwyj46ugem of Amish Hospital Aid, an Amish health insurance program that covers major medical costs. Interview data from 11 Amish adults in Lancaster County depict how this aid program supplements includes Amish Hospital Aid, an insurance program (that predates Obamacare). The ability to interview members of the Lancaster County Amish community required special or were heavily involved in the Amish Hospital Aid program, including those in administrative medical bills solely with their own alms funds, Amish congregations may use community collections. Amish Hospital Aid covers only major medical needs. pay the health care provider used, and Amish Hospital Aid then reimburses them. The Amish Hospital Aid Plan includes limitations in its coverage, namely because it covers Neither Amish Hospital Aid nor congregational alms funding cover health care needs that result Amish Hospital Aid. Interviewees cited an estimated 7000–8000 participants in Lancaster County or a How Amish Hospital Aid Manages Medical Costs How Amish Hospital Aid Manages Medical Costs work_udm6qohornf6bhicatnomtobcu From the Question Concerning Technology to the Quest for a Democratic Technology: Heidegger, Marcuse, Feenberg Technology: Heidegger, Marcuse, Andrew Feenberg'' s most recent contribution to the critical theory of technology, critiques of technology developed by Heidegger and Marcuse. Heidegger and Marcuse'' s relation re-emerge within Feenberg'' s own critical theory. Feenberg'' s false ascription of a technological ''essentialism'' to Heidegger. * Andrew Feenberg, Questioning Technology (London and New York: Routledge, 1999), technology developed by Heidegger and post-Heideggerian thinkers like Marcuse studied with Heidegger from 1928 to 1932, and Feenberg was a Feenberg seems to agree with Heidegger''s basic diagnosis of technology'' s 13 Heidegger, The Question Concerning Technology , trans. 18 Heidegger, The Question Concerning Technology , p. 18 Heidegger, The Question Concerning Technology , p. Heidegger, Marcuse, Feenberg 215 Heidegger, Marcuse, Feenberg 215 Heidegger, Marcuse, Feenberg 215 Heidegger, Marcuse, Feenberg 215 Heidegger, Marcuse, Feenberg 215 Heidegger, Marcuse, Feenberg 215 work_ufth7525gzcf3eqaa5tqpl7hvq Book reviews text, which effects if they occur are mi lesions, lumbar discs, and brain death, should interpretation of clinical signs and investigations, or occur as a result of the operative The first chapter is an excellent review of operative procedure in these patients with The next chapter provides helpful information on spinal intramedullary tumours, than nociceptive pain and whereas mechanisms of pain with an intact nervous system have been extensively investigated, mechanisms of neuropathic pain are poorly understood, and have received much less attention. these mechanisms of neuropathic pain and with treatment, but also considers peripheral nociceptive mechanisms and cancer pain, editor, Fields, opens with a succinct overview of pain transmission in the normal and damage may lead to more pain. mechanisms of pain. place of surgery for pain, both of nociceptive Portenoy considers cancer pain, in which the chronic pain. In fact, bypassing the refereeing process is work_uij5k5fbwbaudpdnt6u2272gp4 from this disease have very elevated plasma plant sterol levels and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease. By studying 10 well-characterized families with this disorder, we have localized the genetic defect to chromosome 2p21, between microsatellite atherosclerotic disease, absence of a family history of premature coronary artery disease, and normal to occasionally elevated plasma cholesterol levels (2). The plasma sitosterol levels in affected individuals, their obligate heterozygous parents, unaffected siblings (from all except Total plasma sterol levels in affected individuals may be very rare and the disease locus in pedigrees drawn from different racial backgrounds maps to the same region, the likelihood that mutations in different genes along a common metabolic pathway are responsible for causing the same or similar discordant gene regulation (24), and the plasma levels of cholesterol in many affected individuals with accelerated atherosclerosis are frequently not elevated (2, 3). work_ujlyihuwtvbltlknniwoj4jib4 Cartilage hair hypoplasia is caused by mutations in the RMRP gene located on chromosome 9p13.3. manifestations, including joint laxity, limited elbow extension, ankle varus, and genu varum. Cartilage hair hypoplasia (CHH) has been reported in data on a large number of patients through clinical examinations, records, and radiographs of the largest accumulation of CHH cases so far encountered in North Weemaes C, Hamel B (1991) Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven Mäkitie O (1992) Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients. Mäkitie O, Kaitila I, Savilahti E (1998) Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia. Mäkitie O, Pukkala E, Teppo L, Kaitila I (1999) Increased incidence of cancer in patients with cartilage-hair hypoplasia. Mäkitie O, Kaitila I, Rintala R (2001) Hirschsprung disease associated with severe cartilage-hair hypoplasia. with cartilage-hair hypoplasia: case report. Cartilage hair hypoplasia: characteristics and orthopaedic manifestations work_ujrzbjienzg2poiu4dcupe3l4a eggs and embryos and the social and ethical genes into human egg nuclei without any human simply as a technical possibility I Genetic Diversity Among Jews: Diseases and Markers at the DNA Level. This well edited and comprehensive volume changes, if continued, will be to have a diluting effect on the gene pool. with mendelian disorders particularly prevalent among Ashkenazim (for example, Goodman MD (1932-1989) who was Professor of Human Genetics at Tel-Aviv University and who contributed so much in various the study of genetic disorders among Jews. edition, 2 volumes. For a book to go through 10 editions over a For it to be increasingly valuable with successive editions is even more already noted in reviewing the 9th edition, The edition is produced for the first time in two volumes (a total of around 2500 pages valuable material, including citation indices, molecular defects in mendelian disorders, on rare mendelian disorders that is quite work_ukqjyfy5uzfsxc3mibzzbvcuca tions for screening the general population aged 45 years for diabetes every years to assess the diabetes screening practices in this population. Table 1—Characteristics of respondents aged 45 years reporting screening for diabetes in a p p roach for the diagnosis of asymptomatic diabetes in patients with cystic fib rosis are pre s e n t e d . diabetic CF patients with normal HbA1 c, obesity observed in type 2 diabetic patients the other hand, patients with type 2 diabetes had significantly lower insulin secretion (212 ± 85 pmol l 1 m i n 1, P = insulin sensitivity in diabetic subjects. and glucose effectiveness in type 2 diabetic and glucose effectiveness in type 2 diabetic both of which can be safely used by diabetic patients during exposure to moderately high altitudes. patients with type 2 diabetes who were c o n t rol in patients with type 2 diabetes. work_ukxbyt5bivgztdy6by6e7ibtjq [PDF] Primary Prevention of Airway Allergy | Semantic Scholar Corpus ID: 53600584Primary Prevention of Airway Allergy title={Primary Prevention of Airway Allergy}, Purpose of reviewThe aim of this paper is to review and summarize the current knowledge of prevention of airway allergy.Recent findingsAllergic rhinitis and asthma are allergic airway diseases. The primary prevention of allergic airway diseases focuses on offspring''s gestational and childhood environment, such as maternal smoking and diet during pregnancy and… Expand View 1 excerpt, cites background View 1 excerpt, cites background View 1 excerpt, cites background View 1 excerpt, cites background View 1 excerpt, cites background Probiotics in Asthma and Allergy Prevention View 1 excerpt, references background View 1 excerpt, references background View 1 excerpt, references background View 1 excerpt, references background By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_ukxghfrhxvcofpnbku5ad4s5se sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219646626 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:32 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_ulvfxbwnmvhqlbytv5kxqd4o24 Abstract Thirty years after it first captured public attention, farmland preservation in North America remains a contentious issue which has failed to mature into result has been a policy agenda influenced by a shift to increasingly broader motivations for farmland preservation and controlled by largely non-farm interests. urban development (Lehman, 1992) in which farmland preservation was used as a growth management Publications such as Disappearing Farmlands." A Citizen''s Guide to Agricultural Land Preservation from agricultural land resource base in the farmland production capacity arguments for farmland protection that attention began to turn to more fundamental agricultural land management questions. call for farmland preservation as part of a new agricultural land ethic begins to appear in the late emergence of grass-roots initiatives in which farmland preservation is embedded in a broader movement to protect rural environment and character. farmland preservation, farmers and their land have work_umfo4krguvc7rhrqlkxpyscyka Brian Barry''s book is an extended critique of the prevailing multiculturalist deliberative democracy, nationality, community, and justice. of ''recognition'' or of ''difference'' are not demanded by liberal principles of No short review can do full justice to the richness of Barry''s book. discussed Old Amish culture amounts to), unabashed defence of liberalism, a liberal defence of multiculturalism to be found in Kymlicka whom Barry castigates for not being a liberal and Raz whom Barry does not consider. David Miller, as is well-known, has developed a theory of nationality which would allow a democratic society to pursue the goal of social justice. not required by liberal justice, but because he thinks that they erode the common identity which is instrumentally necessary for realising justice. different criticisms of Barry and Miller. national culture can be subject to democratic deliberation and scrutiny so that Barry and Miller offer plausible but very work_un4622mo5jgzjflm64qbmvfbcq P/4 Import and assembly of mitochondrial proteins University of Freiburg, Germany E-mail: nikolaus.pfanner@biochemie.uni-freiburg.de precursors are imported via the translocase of the outer mitochondrial membrane (TOM complex) and are subsequently sorted into the four mitochondrial subcompartments, outer membrane, intermembrane space, inner membrane and matrix. presequence translocase of the inner membrane (TIM23 complex). (ii) Hydrophobic inner membrane proteins complex (small Tim proteins) and inserted into the inner membrane (iv) Betabarrel proteins are transported from the TOM complex to the These mitochondrial disorders were the first to be investigated after the small mtDNA had defects of mitochondrial carriers, a family of nuclear-coded proteins Mutations of mitochondrial carrier genes involved in mitochondrial functions other than oxidative phosphorylation are Defects of mitochondrial carriers that supply mitochondria with the substrates of oxidative phosphorylation, inorganic phosphate and ADP, are responsible for diseases characterised by P/6 The water oxidizing enzyme E-mail: alfred.rutherford@cea.fr efficient catalyst for oxidizing water. mitochondrial complex I mailto:nikolaus.pfanner@biochemie.uni-freiburg.de mailto:alfred.rutherford@cea.fr work_unfcbeccefcznpxqlwx7x5atum The aim of this review was to analyze the role of the gut–lung axis in asthma development, considering inflammation and its influence on important risk factors for asthma, including tobacco smoke and Keywords: asthma; atopy; gut microbiota; immunity; lung microbiota; microbiome Amish environment provides protection against asthma by engaging and shaping the innate immune Asthma has been extensively studied concerning the innate and adaptive immune response. cells (DCs), which influence the response to virus infection and the development of allergic important role in influencing the immune responses for microbiota residing in other sites, such increased risk of subsequent asthma development and enhanced Th2-associated immunity [70]. increased risk of subsequent asthma development and enhanced Th2-associated immunity [70]. Huang, Y.J. The respiratory microbiome and innate immunity in asthma. intestinal microbiota in relation to the development of asthma. airway disease in mice following antibiotic therapy and fungal microbiota increase: Role of host genetics, work_upii4s6ii5hfbp4uhdmthzd7ua raised in Amish families but later in life left the community such as Jerry Eicher Within a family, men and women have different tasks – the Amish wife Another Amish woman describes her marriage in Family Life (February 1975) like around a young Amish couple in Lancaster County, Meredith and Luke Stoltzfus. Johnson-Weiner described the role of women in Amish communities, the female The main protagonist of the novel trilogy is Sarah Yoder, an Amish widow in her midthirties, who raises her seventeen-year-old stepson Simon and her fourteen-year-old The way her thoughts are described lets Sarah appear like a young girl who has Sarah follows the pattern of an Amish wife who allows the man to deal with the child The heroine of the story is Sarah Byler, a young Amish woman and At the same time, another young Amish man, Lee Glick, is drawn to Sarah, but work_ut2j275m3jdrhec2xkoiiser5u Singular DYT6 phenotypes in association with new THAP1 frameshift mutations. Singular DYT6 phenotypes in association with new THAP1 frameshift mutations. Hereditary myoclonus dystonia (DYT11): a novel SGCE gene mutation with early-age onset (median, 13 years) and slight female predominance.1 The upper limb is a common site of onset, with patients with primary non-DYT1 dystonia. 1. Family tree demonstrating index cases with SGCE deletion (III:1 and III:2) who had cognitive impairment and mild myoclonus dystonia (black the clinical phenotype associated with THAP1 mutations, the disease at an early age, thus mimicking DYT1 dystonia. The DYT6 phenotype overlaps with that of other forms of primary early-onset dystonia, Good candidates for THAP1 screening might be patients with onset in childhood or during adolescence who present cervicocranial and upper limb involvement Neurologie, Dijon, France; 9CHU de Nice, Service Mutations in THAP1 (DYT6) in early-onset patients with early-onset dystonia. (DYT6) are an additional cause of early-onset dystonia. work_ut66slzdtbc4fappw54zj4cxea sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219649184 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:35 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_uvwjd3dkqzcz3ndma2ihpidio4 some set of universal human rights of which free movement is a member. Chief among these is that the definition of any enforceable constitutional right should be made by weighing the benefits to the actor protected by Third, constitutional rights in this theory are inherently relative, and thus differ justified by my theory of constitutional rights under the assumption that the loss Under my theory, a constitution would protect the right of parents to choose The rights in the Charter to high levels of health care, education, environmental protection and the like would seem to require state funding for these activities. caused by the protected actions is illustrated by the rights of EU citizens to free The protection of such actions by a constitutional right is This constitution protects the rights of states to adopt universal human rights of which free movement is a member. A utilitarian theory of constitutional rights is work_uwihv2p3gjhx3iejbjkouyix4u Television among Amish and Ultra-Orthodox (Haredi) Women, Journal of Media and Religion, 16:1, This study shows how Old Order Amish and ultra-Orthodox women''s discourse about television can help develop a better understanding of the how Amish and ultra-Orthodox women''s discourse about television can help develop a better 1This research does not include the Habad and Breslav ultra-Orthodox Jewish sects because their use of technology is different The Amish and ultra-Orthodox women who participated is this study will enable us to view the Both Amish and ultra-Orthodox communities prohibit television and use limits and sanctions to "What interpretative strategies are used by Amish and ultra-Orthodox women regarding the television?" The secondary research question asks what we can learn from a comparison of Amish and To examine the interpretative strategies of the Amish and ultra-Orthodox women toward television, think that watching television is in keeping with Amish/ultra-Orthodox values?" All of the women from work_v2epug2k6jh73oh3kif4fr6r5q http://scitation.aip.org/search?value1=Amish+G.+Joshi&option1=author http://scitation.aip.org/search?value1=Sergiy+A.+Kryukov&option1=author http://scitation.aip.org/search?value1=Lance+E.+De+Long&option1=author http://scitation.aip.org/search?value1=Elvira+M.+Gonzalez&option1=author http://scitation.aip.org/search?value1=Elena+Navarro&option1=author http://scitation.aip.org/search?value1=Javier+E.+Villegas&option1=author http://scitation.aip.org/search?value1=Jose+L.+Vicent&option1=author � 0.01 – 0.7 K, for a �Nb�23 nm� / Ni�5 nm��5 multilayer �ML� in dc magnetic fields applied nearly between SC and ferromagnetic layers that involve magnetic pair breaking effects, "pi phase shifts" layers alter the magnitude and phase of the complex SC order parameter that determines the stability of the SC state of SC films.11,15 In these cases, the TC shifts reflect an equilibrium phase boundary when carefully measured at "vanishing" drive current.15,16 a �Nb�23 nm� / Ni�5 nm��5 ML in parallel magnetic field �oH = 0.12 T with 2. Magnetic field �H�-temperature �T� "phase boundary" between the 3. �Color online� Magnetic field �H�-temperature �T� "phase boundary" between the SC and normal states for a �Nb�23 nm� / Ni�5 nm��5 ML, that alter the phase and coupling between the SC order parameter of adjacent Nb layers with applied dc field. work_v6iuaa6upvhbdf5pxng7knj72m risk for onset of bipolar disorder spans late adolescence and early adulthood. of a pre-pubertal form of bipolar disorder manifesting in early childhood created substantial debate. of children at high familial risk did not support the proposed pre-pubertal bipolar phenotype; but rather provided of the controversy surrounding the diagnosis of bipolar disorder in pre-adolescent children. mood episodes of diagnosed bipolar disorder in highrisk offspring were predominantly depressive (not manic) Longitudinal high-risk studies have not only been helpful in characterizing the onset and early course of bipolar disorder, but also in characterizing early childhood in children and adolescents, ICD-11 states that the diagnosis of bipolar disorder requires the presence of mania very young children with comorbid ADHD and associated problems in social and academic functioning represented a pre-pubertal form of bipolar disorder. Longitudinal prospective studies of children at confirmed familial high-risk of developing bipolar disorder work_v7clmiazorcz7j3tsg5akzmjsi This paper considers the question of anniversaries in relation to supposedly marginal religious groups in the era of the Reformation. The paper argues that considering memories and anniversaries amongst these communities allows us to question whether these anniversaries are an appropriate or relevant celebration of Mennonite identity (Goossen, 2017b). within the Mennonite community reveal about these memories histories produced in the 1970s and 80s on early modern Anabaptism, Anabaptist studies have not seen the same energy since. Anabaptist and Mennonite histories (Driedger, 2002; RäisänenSchröder, 2011; Monge, 2015; Hill, 2015; Goossen, 2017a). have sharpened questions of the interaction between the Reformation legacies of Anabaptism and Lutheranism (and other traditions) and brought to the fore the continued global power of histories of Mennonite communities in regional Polish archives memory cultures of early modernity and Reformation history. Memories of the Reformations and their global legacies must be work_vec7md4gfna2zpib4hds5i3nnq [PDF] From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases | Semantic Scholar Corpus ID: 11539301From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases title={From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases}, journal={G3: Genes|Genomes|Genetics}, Using genomic applications to glean insights into human biology, we systematically searched for nonsense single nucleotide variants (SNVs) that are rare in the general population but enriched in the Old Order Amish (Amish) due to founder effect. Human SLC26A1 Gene Variants: A Pilot Study Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_vecghlhsufb4hehip6y25ku3ii Obesity in children Curbing obesity: prevention and treatment with obese children and their families observing in our contacts with obese children and their parents, but also from seem to be the best place to take responsibility for organising these daily activities for all children. children''s programmes are available. parents need to set rules and control these that children eat more than they need. Treating obese children Treating obese children programmes of childhood obesity indicated that few randomised controlled prevention programmes of obesity These are (i) eat fruit and vegetables each day, (ii) reduce the intake of obese parents. engagement of the parents of young children. changes in society involving eating habits good eating habits and physical activity efforts to reduce childhood obesity. children''s eating habits and reduce the What is most important if we effectively want to prevent childhood obesity, � Increase activity of daily living for children. work_vjhsuyxiabdolkn7vh6fsyhj2e [PDF] Thank You for Your Continued Support | Semantic Scholar Skip to search formSkip to main content> Semantic Scholar''s Logo Search Corpus ID: 41933870Thank You for Your Continued Support title={Thank You for Your Continued Support}, journal={Journal of the Air & Waste Management Association}, Journal of the Air & Waste Management Association View on Taylor & Francis Save to Library Create Alert Cite Launch Research Feed View All Citation Type Citation Type Cites Results Cites Methods Cites Background Sort by Most Influenced Papers Sort by Citation Count Political Science Computer Science Save Save Alert Alert Research Feed Stay Connected With Semantic Scholar About Semantic Scholar Semantic Scholar is a free, AI-powered research tool for scientific literature, based at the Allen Institute for AI. By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License ACCEPT & CONTINUE work_vkpgxwrsbzdfjapfq6eakpv4sm Keywords: pure hereditary spastic paraplegia; differential diagnosis; molecular genetics The diagnosis of pHSP in a family where several members have typical clinical features is the differential diagnosis include dopa responsive dystonia, which should actively be excluded in families where age of onset is early the neural cell adhesion molecule LI (LiCAM) at Xq28 are responsible for a complicated form of spastic paraplegia, in which Thus, the X linked hereditary spastic paraplegias indicate that mutations in the same Hereditary "pure" spastic paraplegia: a clinical spastic paraplegia: a study of nine families. familial spastic paraplegia type I: clinical and genetic analysis of a large North American family. locus for autosomal dominant familial spastic paraplegia to locus for autosomal dominant familial spastic paraplegia to Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one familial spastic paraplegia: tight linkage to chromosome Molecular genetics of familial spastic paraplegia: a multitude of responsible "pure" autosomal recessive familial spastic paraplegia to work_vmr2x2q5vjf6teac7wtt6jwyce sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219646867 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:32 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_vmslbui6v5he5a4dunbicn7j6u BMP-7 inhibits epithelial-mesenchymal transition involving adult renal epithelial tubular cells and decreases secretion of type I collagen by adult renal fibroblasts. kidney, tubular epithelial cells can convert into fibroblast via 2. Regulation of E-cadherin expression by BMP-7 in adult renal fibroblasts. C, adult renal fibroblasts were treated with BMP-7, and the expression of E-cadherin, Pax2, and Wnt4 was analyzed by immunoblot. Immunocytochemistry analysis of BMP-7-treated fibroblasts revealed that cells within the aggregated/condensed areas expressed abundant levels of the epithelial marker E-cadherin (Fig. 1F) and cytokeratin (data not shown) as compared Formation of E-cadherin-expressing epithelial cell aggregates, as observed in our studies, mimics BMP-7-mediated BMP-7 inhibits EMT involving adult renal epithelial cells, we Bone Morphogenic Protein-7 Induces Mesenchymal to Epithelial Transition in Adult Renal Fibroblasts and Facilitates Regeneration of Injured Kidney* Bone Morphogenic Protein-7 Induces Mesenchymal to Epithelial Transition in Adult Renal Fibroblasts and Facilitates Regeneration of Injured Kidney* work_vnlhxz25ovgq7mj7w32biskmte Proximal fibular resection improves knee biomechanics and enhances tibial stress fracture healing in patients with osteoarthritis with varus deformity: a prospective, randomized control analysis using long-stem tibial component with proximal fibular resection (PFR) for patients with knee osteoarthritis with anteroposterior and lateral view showing healed stress fracture with correction of deformity with modular stemmed knee prosthesis with implant (plate) in situ with proximal fibular resection; c) Recent follow-up anteroposterior and lateral view showing healed stress fracture with correction fracture proximal tibia; b) Postoperative X-ray anteroposterior and lateral view showing correction of deformity with modular stemmed knee showing healed stress fracture with correction of deformity with modular stemmed knee prosthesis with intact fibula; e) and f) Recent follow-up anteroposterior and lateral view showing healed stress fracture with correction of deformity with modular stemmed knee prosthesis in situ with follow-up anteroposterior view showing healed stress fracture with correction of deformity with modular stemmed knee prosthesis with work_vo3seum74fcmdef3awbuqjccam Ganesh, Santhi K.; Tragante, Vinicius; Guo, Wei; Guo, Yiran; Lanktree, Matthew B.; Smith, Bethesda, MD, USA, 62Center for Population Studies, National Heart, Lung, and Blood Institute, Framingham, MA, (PP), we genotyped ∼50 000 single-nucleotide polymorphisms (SNPs) that capture variation in ∼2100 candidate genes for cardiovascular phenotypes in 61 619 individuals of European ancestry from cohort studies We identified 22 significant SNP-trait associations with SBP, DBP, MAP and PP at 12 SNP-trait associations we identified was novel in our analysis, compared the results of our analysis with all published associations at the time of this report (6 – 13,19) (Supplementary Material, Table S6). In summary, our study has identified two novel loci containing the HRH1 and MDM4 genes associated with BP traits of The phenotype and genotype data of 61 619 individuals of European ancestry, belonging to 27 participating studies (Supplementary Material, Table S1), were analyzed in the discovery work_vpiaqa5eqvcqxnyfvzknn57bci 1McGill University, Department of Psychiatry; and Douglas Mental Health University Institute, McGill Group for Suicide Studies, Montréal Extremely high rates of suicide localized within subgroups of populations where suicide is rare have case of alcohol/substance abuse and impulsive–aggressive personality but elevated rates of social anxiety. Our study confirms a persistent phenomenon of high suicide rates restricted to a subgroup of a preindustrialized population. Key words: Culture, genetics, human behavior, indigenous people, suicide. investigation of suicide among a non-violent, cooperative and egalitarian indigenous population living on the risk factors for suicide in this population. the three control regions and (2) risk factors for suicide (i.e. less than three genetic degrees, which also represents the incest threshold) of the investigated suicide cases or other controls to avoid overestimation the past 10 years among a population of 1500 inhabitants, leading to a suicide rate of 13.3/100000 inhabitants. Mental disorders are major risk factors for suicide work_vq4talamurfsph5jcrchzdpyx4 sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219643133 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:27 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_vqjgteq3arc7nhptxkjsdzkuge [PDF] Electrophoretically deposited reduced graphene oxide platform for food toxin detection. Corpus ID: 10272925Electrophoretically deposited reduced graphene oxide platform for food toxin detection. title={Electrophoretically deposited reduced graphene oxide platform for food toxin detection.}, Citation Type Citation Type Sort by Most Influenced Papers Sort by Citation Count Graphene Oxide-Based Biosensor for Food Toxin Detection Graphene quantum dots-based nano-biointerface platform for food toxin detection Journal of materials chemistry. C. Singh, Saurabh Srivastava, +5 authors B. Reduced graphene oxide–titania based platform for label-free biosensor P. Solanki, Saurabh Srivastava, Md Azahar Ali, R. Biosensor based on Prussian blue nanocubes/reduced graphene oxide nanocomposite for detection of organophosphorus pesticides. Electrochemical sensing and biosensing platform based on chemically reduced graphene oxide. Semantic Scholar is a free, AI-powered research tool for scientific literature, based at the Allen Institute for AI. By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_vrjs7beyc5b4bhk35msm6n7qxm artery acceleration time) and right ventricular function (tricuspid annular plane systolic excursion) are ► The final diagnosis of chronic pulmonary hypertension, against which new early diagnostic tests are study is to systematically develop quantitative echocardiographic diagnostic criteria which will allow for the identification of neonates with significant pulmonary vascular recently identified by the Paediatric Pulmonary Hypertension Network.27 These areas are: (1) the standardisation of echocardiographic characterisation of cPH, (2) ability of relevant quantitative functional echocardiographic indices, in particular PAAT and TAPSE, to identify preterm neonates with cPH early in postnatal life, Figure 1 In early stage of chronic pulmonary hypertension (cPH), the disease is expected to be more functional, determined neonates with significant pulmonary vascular disease, who subsequently will be diagnosed with cPH secondary to chronic assessment (SDA) to categorise study cohort as chronic pulmonary hypertension (cPH) or no cPH, as per the standard currently Management of Pulmonary hypertension and Right Heart Function In NeonaTes work_vt3qh23oufavjlzx2o4zunwz7u sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_vtg2ikp7wfcwzhwdrbtddjdflq (including R19X) were subsequently found to have low triglyceride and a significantly reduced risk of vascular disease.14,15 In contrast, studies examining the effect of apoC-III enrichment in apoB containing lipoproteins (ie, very low-density lipoprotein and LDL) identified increased coronary arteriographic adjustment for triglyceride.18 In the second study, apoC-III levels in the top quartile at baseline were predictive of cardiovascular death over the 15-year follow-up period.19 However, this The study by van Capelleveen et al4 confirms the association between plasma apoC-III levels and incident CAD. Although these effects were attenuated after adjustment for triglyceride, subgroup analysis found apoC-III to remain independently associated with CAD in subjects with high triglyceride Interestingly, the combination of high triglyceride and low apoC-III was not associated apoC-III may potentiate vascular risk, especially in the setting © 2017 American Heart Association, Inc. Arterioscler Thromb Vasc Biol is available at http://atvb.ahajournals.org lipoproteins containing apolipoprotein C-III and the risk of coronary heart work_vvlzsj54cvf5de6ji6py6krqlm Management of Patients on Non–Vitamin K Antagonist Oral Anticoagulants in the Acute Care and Periprocedural Setting: A Scientific Statement From the American Heart Association risk of stroke, systemic embolism, major bleeding, and death compared with warfarin for NVAF.2–5 In contrast with warfarin, NOACs have a more predictable therapeutic clotting time.12 Case reports of patients with life-threatening bleeding associated with dabigatran therapy have In summary, the AHA writing group suggests that traumatic and nontraumatic ICH patients on dabigatran who require NOAC reversal receive idarucizumab. trials comparing the risk of thromboembolic events associated with temporary discontinuation found no statistically significant differences in the NOAC versus VKA Periprocedural bleeding was studied in a subgroup analysis of the RELY trial which compared warfarin to dabigatran for stroke prevention in NVAF.103 Apixaban Use in Association With Dual Antiplatelet Therapy in Patients With Atrial Fibrillation Undergoing Percutaneous Coronary Intervention]134 and AUGUSTUS [A Study work_vwoopqk45bajrhrnbxoeqrzy2q sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219637303 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:20 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_vyjsmor3bzbadn4ygxiq4gqdka Big Bone Lick: The Cradle of American Paleontology (review) Big Bone Lick: The Cradle of American Paleontology (review) The bulk of these interviews represent a generation of Delawares who grew up without knowing many of their cultural Big Bone Lick: The Cradle of American Paleontology. Kentucky''s first tourist attraction, Big Bone Lick has long deserved a modern account such as Stanley Hedeen provides. canoe-load of specimens from Big Bone Lick to Redstone Old Fort.1 Some at the Big Bone Lick."2 What became of these specimens remains unknown, of three Paleo-Indian points "collected" at Big Bone Lick. written that these were discovered in the lowest level of the Big Bone deposits during William Clark''s 1807 excavations for Thomas Jefferson and are associated Paleo-Indian artifacts and megafauna at Big Bone Lick should Big Bone Lick State Park Museum and should remain a standard resource The Ohio State University 4. Stanley Hedeen, Natural History of the Cincinnati Region. work_w2cyvsu3i5ejnis4j3p4ptuxci health chaplain during which he developed and conducted spirituality groups Eventually, two spirituality groups were developed utilizing the forgiveness models of Everett on his "five steps to forgiveness." The second group described a process for those who seek to to warn the patients that the content of the forgiveness group would be controversial, challenging, In the forgiveness sessions I conducted, I briefly outlined Worthington''s description of the journey The second spirituality group explored the stages of reconciliation in which two persons may introduce the difficult path of forgiveness to the patients and to claim a central role for spirituality. forgiveness, she smiled and asked if she could address the group. If you want religious groups around the world … to be forces for forgiveness, you In their book, Amish Grace: How Forgiveness Transcended Tragedy, Donald Kraybill, et al., have understanding of Amish life reveals that grief and forgiveness are communal tasks whether or not work_w3ouzultwremrh7uf7ze3wltw4 [PDF] Left Atrial Appendage Remodeling After Lariat Left Atrial Appendage Ligation | Semantic Scholar Background—Left atrial appendage (LAA) ligation with the Lariat device is being used for stroke prevention in atrial fibrillation. Figures, Tables, and Topics from this paper Sort by Most Influenced Papers Anatomy and Physiologic Roles of the Left Atrial Appendage: Implications for Endocardial and Epicardial Device Closure. Percutaneous Left Atrial Appendage Closure: Current Devices and Clinical Outcomes Clinical Significance of Leaks Following Left Atrial Appendage Ligation With the LARIAT Suture Delivery Device. Anatomical and electrical remodeling with incomplete left atrial appendage ligation: Results from the LAALA‐AF registry Anatomic analysis of the left atrial appendage after closure with the LARIAT device. Left atrial thrombus after appendage ligation with LARIAT. Late-occurring left atrial appendage thrombus after ligation using LARIAT Percutaneous left atrial appendage suture ligation using the LARIAT device in patients with atrial fibrillation: initial clinical experience. Left atrial thrombus after appendage closure using LARIAT. work_w4o5w4yke5fp3itdmkm6pdkt5e sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219643388 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:28 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_w5cn5bug3ngd7dnncgquwrjgfq sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_w7hqq66tarhfzm6e57brwforae sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219639345 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:23 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_wbur52gcdjbkfar2qcawdle47u sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219645133 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:30 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_wbyx7dfkerexfj3sh72zbpgnla Cartilage-hair hypoplasia (CHH) or McKusick Amish and Finnish CHH families; this has been penetrance.28 The CHH gene was recently assigned to chromosome 9 by linkage analysis,9 year in 98% of 108 Finnish CHH patients." 113 Amish CHH patients: lymphoma in three Makitie, Sulisalo, de la Chapelle, Kaitila Makitie, Sulisalo, de la Chapelle, Kaitila patients with congenital megacolon (Hirschsprung''s disease) 2416212228-31 The Finnish of the 108 Finnish CHH patients; instead, States.2 At least 113 Amish CHH patients have Genetic studies among Amish and Finnish families have confirmed the recessive mode of inheritance in CHH.28 However, segregation Skeletal growth in cartilage-hair hypoplasia a radiological study of 82 patients. Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients. High resolution genetic mapping of the cartilage-hair hypoplasia studies of cartilage-hair hypoplasia in the Amish. Cartilage-hair hypoplasia (metaphyseal chondrodysplasia, with cartilage-hair hypoplasia (case report). with cartilage-hair hypoplasia (case report). and abnormal cellular immunity in cartilage-hair hypoplasia. work_wcajokdsz5d4vlnagrylsmrbdu sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_wffysfwkbzcqdjwqyt67poj6iu troponin (Tn) myofilament regulation to decrease Ca2þ sensitive force production. investigated the effect of in vivo cardiac ischemia on levels of TnI Ser-150 and Deficiency of Slow Skeletal Muscle Troponin T Causes Atrophy of Type I Loss of slow skeletal muscle troponin T (ssTnT) due to a nonsense mutation at decreased levels of other slow fiber-specific myofilament proteins while fast that ssTnT deficiency caused significant atrophy of type I slow fibers and a Attentuating the Depressive Effect of Acidosis with Mutations in Troponin The Effect of Truncated Troponin Components on Activation of Deficiency of Slow Skeletal Muscle Troponin T Causes Atrophy of Type I Slow Fibers and Decreases Tolerance to Fatigue Attentuating the Depressive Effect of Acidosis with Mutations in Troponin and with 2-Deoxy-Atp The Effect of Truncated Troponin Components on Activation of Lethocerus Flight Muscle The Effect of Truncated Troponin Components on Activation of Lethocerus Flight Muscle work_wfrrqdllknacbclet2fj2ycape P-sarcoglycan, a 43 kDa dystrophin-associated glycoprotein, is an integral component of intragenic polymorphic CA repeat cosegregated perfectly with autosomal recessive limbgirdle muscular dystrophy in several Amish families. (LGMD2E) that is involved in autosomal recessive limb-girdle muscular dystrophy. degree of consanguinity and the similar clinical presentation of all Amish LGMD patients, the demonstration of genetic heterogeneity within this community human P-sarcoglycan, a 43 kDa component of the dystrophin-glycoprotein complex, and demonstrate its and is apparently responsible for the muscular dystrophy in all chromosome 4-linked Amish LGMD families Several ESTs encoding peptide sequence fragments of the P-sarcoglycan protein were identified and To determine the tissue-specific expression of p-sarcoglycan, we performed RNA hybridization analysis. h u m a n P-sarcoglycan gene from a panel of hunianrodent somatic cell hybrids containing various combinations of h u m a n chromosomes. kDa dystrophin-associated glycoprotein, we constructright indicates position of p-sarcoglycan protein. work_wfxmniaynzd77p64kgagol6774 P/4 Import and assembly of mitochondrial proteins University of Freiburg, Germany E-mail: nikolaus.pfanner@biochemie.uni-freiburg.de precursors are imported via the translocase of the outer mitochondrial membrane (TOM complex) and are subsequently sorted into the four mitochondrial subcompartments, outer membrane, intermembrane space, inner membrane and matrix. presequence translocase of the inner membrane (TIM23 complex). (ii) Hydrophobic inner membrane proteins complex (small Tim proteins) and inserted into the inner membrane (iv) Betabarrel proteins are transported from the TOM complex to the These mitochondrial disorders were the first to be investigated after the small mtDNA had defects of mitochondrial carriers, a family of nuclear-coded proteins Mutations of mitochondrial carrier genes involved in mitochondrial functions other than oxidative phosphorylation are Defects of mitochondrial carriers that supply mitochondria with the substrates of oxidative phosphorylation, inorganic phosphate and ADP, are responsible for diseases characterised by P/6 The water oxidizing enzyme E-mail: alfred.rutherford@cea.fr efficient catalyst for oxidizing water. mitochondrial complex I mailto:nikolaus.pfanner@biochemie.uni-freiburg.de mailto:alfred.rutherford@cea.fr work_wjkxnwzxnfhpncghxbvpml5zvq sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_wkd5swt2gfgq5lbchgpyzwsnme Table 1: Distribution of HCV-positive pregnant females among the studied sample Table 2: Distribution of HCV-positive pregnant females among the studied samples according to their residence Table 3: Distribution of HCV-positive pregnant females among the studied samples according to gravidity The number of the primigravidae was 347 of the studied sample 34.7% and 11 of them tested positive for HCV Table 4: Distribution of HCV-positive pregnant females among the studied samples according to the mode of delivery Table 6: Distribution of HCV-positive pregnant females among the studied samples according to number of Table 7: Distribution of HCV-positive pregnant females among the studied samples according to history of blood Table 8: Distribution of HCV-positive pregnant females among the studied samples according to history of Table 9: Distribution of HCV-positive pregnant females among the studied samples according to history of dental procedures and unsafe injections Table 10: Distribution of HCV-positive pregnant females among the studied samples according to presence of work_wmvyiwhfgvhixp2shq2ooqyhpe http://osc.hul.harvard.edu/dash/open-access-feedback?handle=&title=Genome-Wide%20Association%20Analysis%20Identifies%20Variants%20Associated%20with%20Nonalcoholic%20Fatty%20Liver%20Disease%20That%20Have%20Distinct%20Effects%20on%20Metabolic%20Traits&community=1/4454685&collection=1/4454686&owningCollection1/4454686&harvardAuthors=dd1ca2f5051044d440807a8b6748069e&department Nonalcoholic fatty liver disease (NAFLD) clusters in families, but the only known common genetic variants influencing risk We sought to identify additional genetic variants influencing NAFLD using genome-wide association meta-analysis of genome-wide association (GWA) results between CT hepatic steatosis and ,2.4 million imputed or genotyped SNPs in 7,176 individuals from the Old Order Amish, Age, Gene/Environment Susceptibility-Reykjavik study (AGES), Family Heart, and Framingham Heart Studies, we identify variants associated at genome-wide significant levels resource development from the Framingham Heart Study investigators participating in the SNP Health Association Resource (SHARe) project. best associating loci were genotyped in histology based NAFLD samples (Stage 2) from the NASH CRN matched to genome wide genotyped and The effects of the five NAFLD associated SNPs on NASH CRN/iCONT, metabolic phenotypes and eQTLs in liver and adipose Direction of effect on CT fatty liver, histology NAFLD, lipid and glycemic traits of the best associating SNPs at the loci work_wnca5ujtp5g7jf4lpq2ljccumm sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219651392 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:37 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_wp5rzk3a2vcvpcxwhzc4zfdaem splice site, frameshift, or missense calpain mutations the rat CANP3 amino acid sequence (Sorimachi et al., hormones; Minty and Kedes, 1986), and four E boxes (contact sites for basic-helix-loop-helix proteins found in members of the MyoD family; Blackwell and Weintraub, 1990). factor-binding sites in the regulation of CANP3 gene expression remains to be established. The DNA and protein sequences of the human CANP3 A comparison of the published CANP3 human cDNA (Sodmachi et al., 1989) with the corresponding genomic sequence led to the identification of 24 exons ranging in CANP3 Mutations in LGMD2A Families The corresponding sequence from a normal muscular CANP3 cDNA the same exon 22 mutation as the Amish LGMD2A patients (see Figure 6), but embedded in a completely different haplotype (Allamand et al., 1995b). Only four different mutations were identified by heteroduplex and sequence analyses in the families of La R~ Mutations in CANP3 Cause LGMD2A work_wql6ym7exjhelbi5xai5eh7dwq sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219644894 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:30 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_wt3ujyp45bfnlke3cmvm2337g4 models currently used to assign radionuclide S values for clinical marrow dose assessment are based on bone and marrow model underestimates the self-absorbed fraction to active marrow by 75%. target regions in radiation transport models of skeletal dosimetry—as the portion of trabecular marrow space not As such, these models cannot explicitly consider the influence of energy lost to adipocytes as an electron traverses a given marrow cavity. the TMS self-absorbed fraction is appropriate at high electron energies as is done in the Eckerman and Stabin model. For the femoral head and humeral epiphysis, a reference cellularity factor of 0.25 (25% active marrow and using the macrostructural transport model for self-irradiation of the active marrow within the femoral head and 100% marrow cellularity using macrostructural transport model for femoral head At high energies, the active and inactive marrow components experience the same absorbed dose independent of their respective volume fractions within the work_wt54jkbqyzdfperglsgemozw5e The ABCG8 G574R Variant, Serum Plant Sterol Levels, and Cardiovascular Disease Risk in the Old Order Amish | Semantic Scholar Corpus ID: 365608The ABCG8 G574R Variant, Serum Plant Sterol Levels, and Cardiovascular Disease Risk in the Old Order Amish title={The ABCG8 G574R Variant, Serum Plant Sterol Levels, and Cardiovascular Disease Risk in the Old Order Amish}, Objective—To determine whether long-term exposure to moderate elevations in plasma plant sterol levels increases risk for atherosclerosis. Methods and Results—In Old Order Amish participants aged 18 to 85 years, with (n=110) and without (n=181) 1 copy of the ABCG8 G574R variant, we compared mean plasma levels of plant sterols and cholesterol precursors and carotid intima-media wall thickness. Figures, Tables, and Topics from this paper No Association Between Plasma Levels of Plant Sterols and Atherosclerosis in Mice and Men Noncholesterol sterols and cholesterol lowering by long-term simvastatin treatment in coronary patients: relation to basal serum cholestanol. work_wva23bnafvejvnhsumtelclqay source of Toxoplasma gondii infection in 4 North American epidemics and in mothers of children in the National to determine whether risk factors or demographic characteristics could identify mothers infected with oocysts. Only 49% of these mothers identified significant risk factors for sporozoite acquisition. Recently, these serum samples were tested with a new assay to determine whether antibodies to the sporozoite form of T. sporozoite protein, that oocyst infection also occurred in persons in 4 North American epidemics (ie, at a riding stable in This assay determined that oocyst infection induces an antibody specific to an 11-kDa sporozoite of infection in mothers of children with congenital toxoplasmosis and in epidemics in the United States. the sporozoite protein in serum samples from infected mothers Infected Mothers of Children Enrolled in National Collaborative Chicago-based Congenital Toxoplasmosis Study Lack of correlation of antibody to sporozoites in maternal serum samples and manifestations of infection in the newborn infant. work_wvgvvsttzzgq7aihflu3njy4ty white matter FA, we assessed processing speed and diffusion imaging fractional anisotropy (FA) white matter FA should have shared genetic control over neurocognitive processing speed degree of additive genetic contribution to processing speed and white matter FA phenotypes shared genetic factors influence white matter FA and processing speed may inform a more both DTI-FA and processing speed (though measured differently than OOA) are available. We estimated the heritability (h2) of FA values and brain processing speed as the proportion significant covariate for either regional FA values or processing speed in HCP sample. significant differences in the genetic correlation coefficients between OOA and HCP and processing speed aging trends (Kochunov et al., 2011; Van Essen et al., 2013). OOA, the phenotypic correlation between FA values of the genu and processing speed were processing speed measurements in OOA and HCP cohorts. Genetic correlation coefficients (ρG ) between processing speed and FA value (corrected for age, age2, work_wwbh5kdc6zdp5mmdrv3ajkuglm sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219634506 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:17 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_wwpmunm4mjdmlnztnkl4kw33gq sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_wx7cgwo7ifd2jbnialwd5iulam In addideletion spans a region of Ç4 Mb and invariably intion, marker ATC3C11, mapping õ1 Mb from the disvolves the paternally derived homologue (Robinson et tal deletion breakpoint (S. tions in PWS, we genotyped 10 three-generation families D15S165 in male meiosis is taken into account, the idenof PWS-deletion patients, using microsatellite markers tification, in five of seven cases, of a different grandparenflanking the common deletion region. duplication event may arise from the unequal recombiPWS families the data were consistent with an intrachromosomal mechanism being responsible for the deletion.nation between repetitive elements interspersed MR, Nakao M, Surti U, et al (1995) Molecular characteriza-the formation of an intrachromosomal loop, either durtion of two proximal deletion breakpoint regions in bothing meiosis or as a somatic event, followed by an exciPrader-Willi and Angelman syndrome patients. grandparental markers flanking the deleted region in Dutly F, Schinzel A (1996) Unequal interchromosomal rearrangements may result in elastin gene deletions causing the15 patients and their parents demonstrated a recomWilliams-Beuren syndrome. work_wxwhinwbnndfloextolj3ffsym sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_wylo3i6evrhdlmxa2oh5qqkuq4 sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219632799 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:15 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_wzcvgebujbhi3gfyfilc453xcu better resolve association signals through analysis of neighbouring SNPs. Results: We report the accuracy of allelic frequency measurements on pooled genomic DNA predicting allelic frequencies for each SNP, derived from several thousand individually genotyped It is possible to identify SNPs that have significant differences in allelic frequencies between two populations allelic frequencies of a SNP from a pooled sample on a study, we investigated the reliability of SNP allelic frequency measurements as determined from pooling of genomic DNA to the known allelic frequencies determined by individual genotyping in order to establish the of SNPs at each allele frequency difference between individual and pooled samples. individual genotyped samples show that calculating frequencies from pooled samples is highly accurate, it is perhaps of greater importance that we are able to predict constructing k-correction factors and predicting allelic frequencies will be unreliable for these SNPs, even if pooled work_x3vzjebhcvf6leinyi3nj23rnu search for genes linked to type 2 diabetes in 691 individuals from a founder population, the Old Order Amish. our findings provide evidence that type 2 diabetes susceptibility genes reside on chromosomes 1, 14, and 18. recently, researchers have turned to genome-wide approaches for identifying genes linked to type 2 diabetes [IGH]) and quantitatively distributed traits related to diabetes (plasma glucose levels and HbA1c), and we used IGH, to test for interactions between genomic regions (the type 2 diabetes trait 1p, evidence for linkage to the discrete type 2 diabetes trait On chromosome 14, we also observed increased evidence supporting linkage using a denser genetic map. type 2 diabetes/IGH trait at three regions that had LOD Chromosomal regions showing evidence for linkage, with a LOD � 1.18 (P � 0.01), to diabetes and related traits using 373 framework 1. Multipoint linkage analysis results of glucose and diabetes for chromosomes 1 and 14 in the work_xcv273odazbktlwoljghsxco4y conditions, ventricular action potential duration (APD) and Cai transient alternans occurred during rapid pacing at an average cycle length APD restitution slope was steeper in hearts developing alternans than cardiac alternans, which generally is well correlated with APD restitution slope and does not depend on fully functional SR Cai cycling. prenatal alternans further, we studied embryonic mouse hearts embryonic mouse hearts, Ca dye staining was followed by an additional 5-min incubation with the voltage indicator RH-237 (5 �mol/l). alternans of both APD and the Cai transient developed concurrently at an average pacing CL of 212 � 34 ms, at which the The role of functional SR Cai cycling in alternans in embryonic mouse ventricles. Action potential duration (APD) and CaT alternans (ALT) in embryonic mouse ventricles. development of alternans in the embryonic heart, then APD Embryonic mouse ventricles without significantly functional SR Ca cycling can develop cardiac alternans, work_xd2ikrlepfc2ndd37xtuce6vm4 Association of NOS1AP Genetic Variants With QT Interval Diabetes Heart Study, a sample of European-American and The study sample consists of 624 European-American individuals (514 type 2 diabetes, with the mean RR interval (European American � 0.0147, African Clinical characteristics of 624 European-American and 127 African-American Diabetes Heart Study participants after exclusion of In European-American individuals not taking any medication known to alter QT interval (n � 624), the minor QT interval duration, and in the diabetic European-American sample, these SNPs explained 1.5 and 2.2% of the A formal test of interaction of diabetes affection and SNP-QT interval effect in the EuropeanAmerican sample was not significant (P � 0.252 for association of one NOS1AP variant in the African-American sample, in whom the minor QT-prolonging allele in Proportion of variance in QT interval duration explained by covariates and estimates of heritability in the European-American sample work_xdxnam6xbza3bluhxwqkmqwfhu troponin (Tn) myofilament regulation to decrease Ca2þ sensitive force production. investigated the effect of in vivo cardiac ischemia on levels of TnI Ser-150 and Deficiency of Slow Skeletal Muscle Troponin T Causes Atrophy of Type I Loss of slow skeletal muscle troponin T (ssTnT) due to a nonsense mutation at decreased levels of other slow fiber-specific myofilament proteins while fast that ssTnT deficiency caused significant atrophy of type I slow fibers and a Attentuating the Depressive Effect of Acidosis with Mutations in Troponin Troponin I Ser-150 Phosphorylation Sustains Troponin Ca2+ Sensitivity in an Acidic Environment Troponin I Ser-150 Phosphorylation Sustains Troponin Ca2+ Sensitivity in an Acidic Environment Deficiency of Slow Skeletal Muscle Troponin T Causes Atrophy of Type I Slow Fibers and Decreases Tolerance to Fatigue Attentuating the Depressive Effect of Acidosis with Mutations in Troponin and with 2-Deoxy-Atp The Effect of Truncated Troponin Components on Activation of Lethocerus Flight Muscle work_xfeub6pq5zhrrhlvl3o6y2c66y pedigree software, and linkage analysis of DNA samples from four sibships, we identified an ∼2-cM interval on protein, slow skeletal muscle troponin T (TNNT1), maps to this interval and was sequenced. conclude that Amish nemaline myopathy is a distinct, heritable, myopathic disorder caused by a mutation in TNNT1. from an Old Order Amish genealogy database and represents a portion of the simplest pedigree that connects 33 affected nuclear families to support the hypothesis that ANM is inherited in an autosomal recessive pattern and is linked to the chromosome 19 region containing the gene TNNT1, suggested The identified mutation of TNNT1 predicts a truncation of the TnT protein at amino acid 180, removing (1995) A mutation in the a-tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Johnston et al.: TNNT1 Gene Mutation in Nemaline Myopathy 821 Johnston et al.: TNNT1 Gene Mutation in Nemaline Myopathy 821 Johnston et al.: TNNT1 Gene Mutation in Nemaline Myopathy 821 work_xhuc334wpbesxaig56hyuqukyi High treadmill workload in patients with exercise-induced ST depression predicts a negative result on exercise echocardiography Desai, Amogh Bhat, Dallit Bagha, Mrudula Guthikonda, Ezra A. BACKGROUND: Exercise (Ex) electrocardiography (ECG) is the most widely used noninvawe test for evaluating symptoms suggestive of coronary artery disease (CAD). we report additional exercise test variables predictive of negative Ex Echo. All patients (Pts) had a normal resting ECG and adequate exercise capacity by history. majority of women and (2) ~85% of positive Ex ECG associated with negative Ex Echo BACKGROUND Although exercise (Ex) electrocardiography (ECG) IS the most commonly employed initial test to assess patients with symptoms suggestive of coronary pts (110 males, 30 females; mean age 51 yrs [30-821) referred for Ex Echo after a positive Ex ECG and a treadmill workload of 210 METS. RESULTS: Ex Echo was negative in 94% (131/140) of Pts and positive in 6% (9/ work_xhug7ctq5jhfbbutft4br3zn5e noninvasively sampled across five study areas in Afghanistan, China, and Tajikistan. immune system gene (GLYCAM-1) showed excessive differentiation (high FST) between study areas. selection can bias estimates of population genetic parameters, e.g. FST (Luikart et al. (2008) studied the genetic response to selection and detected both a reduced effective population size (increased drift genetic differentiation (FST) between populations at a single locus compared to neutral loci. We tested for reduced allelic richness and reduced heterozygosity (e.g. in study areas with low variation) using We tested for genetic signatures of recent population bottlenecks using heterozygosity excess (i.e., deficit of rare Our study of neutral and candidate adaptive genes in argali true migrants exist and that most populations, except perhaps Taxkorgan in China, have current migration rates How could selection tests and genotyping of both neutral and candidate adaptive loci help advance conservation work_xmqnimhjkvhydlorvds5xvlhsu techniques do not carry the requirement for an open access scanner, and hence higher imaging performance during procedures can be achieved. real-time tracking of an active catheter in a standard MRI intravascular procedures is real-time imaging. For real-time dynamic imaging applications, the adaptive Some MR scanner manufacturers provide an interactive interface for adjusting imaging planes and some parameters during a real-time scan. Electrically connected devices.—The concept of incorporating small locator coils into a catheter for tracking Image data from coils in the guiding catheter Real-time interactive magnetic resonance imaging. Imaging of myocardial infarction for diagnosis and intervention using real-time interactive MRI without ECG-gating or breath-holding. Catheter-based endomyocardial injection with real-time magnetic resonance imaging. Simultaneous real-time visualization of the catheter tip and vascular anatomy for MR-guided Real-time MR imaging-guided Endovascular procedures under near-real-time magnetic resonance imaging guidance: An experimental feasibility study. Feasibility of MR-guided angioplasty of femoral artery stenoses using real-time imaging and intraarterial work_xodckqcpwfadrmymn2ptib7lhm Effectiveness of video feedback and self-management on inappropriate social behavior of youth with mild mental retardation Effectiveness of video feedback and selfmanagement on inappropriate social behavior of The effectiveness of a video feedback and self-management package was assessed with various inappropriate behaviors exhibited by six youth with mild mental retardation. procedure consisted of (a) videotaping participants'' inappropriate behavior, (b) having them Video feedback and self-management contributed to generalization across settings. Keywords: Mild mental retardation; Inappropriate social behavior; Video feedback; Self-management Although these procedures have demonstrated their effectiveness on the acquisition of social behaviors, they are also associated with several shortcomings. Procedures of self-management, such as self-monitoring, self-recording, self-evaluation, and self-administering consequences have shown to be effective with various populations and For establishing social behaviors the use of videorecording may be considered, which involves recording participants while they are interacting with others feedback and self-management package on the frequency of inappropriate social behavior exhibited by youth with mild mental retardation. work_xolbeb5eq5fahpek4yfwawwcaa sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219642065 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:26 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_xor6mlqp7zcnjmtu6vhsdj37lq Corpus ID: 31217467Antimicrobial Resistance in the Environment. R. Williams, +1 author S. This review summarizes selected publications of 2016 with emphasis on occurrence and treatment of antibiotic resistance genes and bacteria in the aquatic environment and wastewater and drinking water treatment plants. Sort by Most Influenced Papers Sort by Citation Count What are the effective solutions to control the dissemination of antibiotic resistance in the environment? Antimicrobial resistance in the Gulf Cooperation Council region: A proposed framework to assess threats, impacts and mitigation measures associated with AMR in the marine and aquatic environment. Otter fecal enterococci as general indicators of antimicrobial resistance dissemination in aquatic environments Semantic Scholar is a free, AI-powered research tool for scientific literature, based at the Allen Institute for AI. By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_xq667g3znrecdixtznlmy4rtni Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome | Semantic Scholar Corpus ID: 27161114Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome title={Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome}, Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by progressive multisystem degeneration and segmental premature aging. Sequence analysis of the ERCC6 gene revealed 2 novel mutations associated with the disorder in these patients. Figures and Topics from this paper Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family View 1 excerpt, cites results Identification of Two Missense Mutations of ERCC6 in Three Chinese Sisters with Cockayne Syndrome by Whole Exome Sequencing View 1 excerpt, cites background Structure and expression of the excision repair gene ERCC6, involved in the human disorder Cockayne''s syndrome group B. View 1 excerpt, references background work_xqpna25fy5g2nojorn2tmsyr24 Although it is widely accepted that genes contribute significantly to the variation in bone mineral density (BMD), the nature genetic effects influencing variation in BMD contribute to these differences is not known. variation in BMD into genetic and environmental effects common to both sexes and to men and women separately. accounting for covariate effects, the heritability of BMD ranged from 0.63 to 0.72 in men and 0.80 to 0.87 in women. The residual environmental variance in BMD at the spine, but not hip, was significantly higher in men than in women significant differences between men and women in the magnitude of the genetic variance in BMD, nor did the genetic for sex-specific genetic effects, suggesting that many of the genes influencing variation in BMD should be detectable in both & 2004 Wiley-Liss, Inc. Key words: sex; bone mineral density; genetics; variance; interaction; heritability sex-specific genetic effects on BMD. work_xt7sb5ayhfbdbhjovbwo54dd3u From atopic barrier and microbiome to allergen-specific immunotherapy | Semantic Scholar From atopic barrier and microbiome to allergen-specific immunotherapy}, From atopic barrier and microbiome to allergen-specific immunotherapy}, journal={Current Opinion in Allergy and Clinical Immunology}, Purpose of review Animal studies published within the past 18 months were assessed, focusing on innate and specific immunomodulation, providing knowledge of high translational relevance for human atopic and allergic diseases. Atopic dermatitis mouse models were refined by the utilization of cytokines like IL-23 and relevant skin allergens or enzymes. Sort by Most Influenced Papers Recent developments and advances in atopic dermatitis and food allergy. Current opinion in allergy and clinical immunology Current opinion in allergy and clinical immunology Use of a Canine Model of Atopic Dermatitis to Investigate the Efficacy of a CCR4 Antagonist in Allergen-Induced Skin Inflammation in a Randomized Study. By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_xtlpctdlpreynonngowxc7mloq serious challenges: religious mergers and schisms, changes in membership standards within certain groups, missing data and changes in county boundaries. members and had adherents estimated by data collectors using the county-level multiplier (Grammich across the datasets because of mergers, schisms or changes in how a group''s data groups missing adherent and/or congregation data for a single year and by providing Table 1 Adherents of groups affected by schisms, mergers, or other changes in aggregation possible to use the old county-level estimation formula to create an adherent count There are 11 groups that have congregation counts but are missing adherents in 1990. Six religious groups provided both adherent and congregation data in all 4 years, but are excluded Merging the Religious Congregations and Membership Studies: A Data File for Documenting American Religious Change Merging the Religious Congregations and Membership Studies: A Data File for Documenting American Religious Change work_xwumexdpsjd3rcw5eimohfdsui sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219638693 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:22 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_xwvo2mgt2zds3a4cgwo4ad6snq ABSTRACT In a detailed study of inheritance of DNA sequence polymorphism in a large reference pedigree, an individual was identified with an apparent genetic recombination haplotypes of relevant individuals within this pedigree suggested that the meiotic crossing-over event is likely to have occurred within a 19.8-kilobase-pair region of the fglobin gene At present, however, most genetic markers are distributed at such great distances along a mammalian chromosome that precise delineation of the site of a crossover is quite difficult. analysis is the ,3globin gene cluster (HBBC) of human chromosome 11. individual with one chromosome that appears to be a product of a recombination within the l3-globin gene region itself. the data: (i) a recombination within the P3-globin gene region, the + f-globin haplotype had undergone an obligate crossover within the region of lip carrying the HBBC. f3-globin gene region except the 3'' BamHI site and at D11S12 work_xx4dy6wva5eyteyadw75sopnka A frequent problem in medical genetics is to connect distant relatives with a pedigree. PedHunter uses methods from graph theory to solve two versions of the pedigree connection problem for PedHunter uses a relational database of genealogy data, with tables software tools, called PedHunter, to keep genealogical data in a relational database and to analyze the Each record in the Fisher book contains the following pieces of information relevant to genealogies: of people S, then for each lowest common ancestor a, asp(S) finds the pedigree containing all edges on the path are consistent with the information in the database. shortest paths pedigree (ASPped) for the least common ancestor that has the maximum number of A directed path p from u to v in a pedigree graph A pedigree graph G connects a set of individuals Any directed pedigree graph is acyclic, as the edges work_xzn6y75egzdhrdmwox34ehvyca prevalence of diabetes, hypertension, and high cholesterol, we report the prevalence and control of diabetes, hypertension, and high cholesterol in the Amish, contrasting Amish subjects reported a negative history of high cholesterol, but a review of their current medications indicated We considered persons with diagnosed diabetes, hypertension, or high cholesterol to be ''aware'' of their disease We compared diabetes, hypertension, and hypercholesterolemia prevalence in the Amish with that in nonAmish prevalence rates for diabetes, hypertension, and hypercholesterolemia were significantly higher in NHANES of Amish with diabetes aware of their disease compared Figure 1 Prevalence of diabetes and hypertension in Amish versus NHANES by age group. Amish lifestyle may contribute to less diabetes, hypertension, and high cholesterol in this population. Prevalence, control, and treatment of diabetes, hypertension, and high cholesterol in the Amish Prevalence, control, and treatment of diabetes, hypertension, and high cholesterol in the Amish work_y272t55plvfvzfnfwfuqzsuxiq sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219649805 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:36 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_y2pgbr47ardudfqndrne7rbsni Linkage studies of major affective disorders: 4ICD-FIDIA Abano Terme; USSL 17, Smid-Sud Center, Via dei Campioni, 88046 Lamezia Terine; ''Chair of Psychiatry, University of Reggio Calabria, School of Medicine at Catanzaro, Italy; 6Ecole Pratique des Hautes Etudes, la Salpetriere, Paris, France far in linkage studies of major affective disorders. Egeland el al (1987) reported preliminary evidence suggesting a linkage between a major locus Bruni et al described in 1989 a family with a bipolar disorder segregating in an apparently dominant manner (fig 1): four generations of affected people, We suggest that pedigrees in which major affective disorders are segregating should be submitted Subjects are identified by their pedigree number, Black symbols = Major affective disorders; affective disorders. Bipolar affective disorders linked to DNA markers on Foncin JF, Salmon D, Bruni AC (1988) Extended Kindreds as a Model for Research on Alzheimer''s Disease. In: Genetics and Alzheimer''s Disease. Methods for the Study of Kindreds with Familial Alzheimer''s Disease. loci and the gene for bipolar affective disorder in the work_y3benx4kovg3xgszqxz5j2dibu Ellis-Van Creveld Syndrome: Prenatal Diagnosis, Molecular Analysis and Genetic Counseling Ellis-van Creveld (EvC) syndrome (OMIM 225500), or Objective: To present the perinatal findings and molecular genetic analysis of two siblings with Ellis-van Creveld During this pregnancy, prenatal ultrasound at 18 gestational weeks revealed shortening of the long bones (equivalent to 15 weeks), postaxial polydactyly of both the EVC2 gene was found in the mother and two siblings, and a heterozygous nonsense mutation of Molecular analysis of the EVC and EVC2 genes is helpful in genetic counseling in cases with Key Words: Ellis-van Creveld syndrome, EVC, EVC2, prenatal diagnosis, ultrasound Both EvC syndrome and Weyers acrodental dysostosis are caused by hedgehog signaling defects in the primary cilia due to mutations in the prenatally detected postaxial polydactyly, thoracic narrowness, short limbs, and endocardial cushion defects. prenatally detected postaxial polydactyly, thoracic narrowness, short limbs, and endocardial cushion defects. Prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with work_y3hwzlnd6ngbfgzd6jfreixffq [PDF] A systematic review and meta-analysis of the prevalence of chronic widespread pain in the general population | Semantic Scholar Corpus ID: 14465876A systematic review and meta-analysis of the prevalence of chronic widespread pain in the general population title={A systematic review and meta-analysis of the prevalence of chronic widespread pain in the general population}, Mixed Methods Study Protocol_Chronic Pain and Marginalized Populations Chronic widespread pain prevalence in the general population: A systematic review View 5 excerpts, cites methods and background Prevalence of chronic pain in the UK: a systematic review and meta-analysis of population studies The impact of chronic widespread pain on health status and long-term health predictors: a general population cohort study Chronic musculoskeletal pain, prevalence rates, and sociodemographic associations in a Swedish population study. Prevalence and long-term predictors of persistent chronic widespread pain in the general population in an 11-year prospective study: the HUNT study [Prevalence of chronic pain in Germany. work_y5y2q3paajhdvhc6spuwwtibd4 Despite on-going calls for developing cultural competency among mental health practitioners, few assessment instruments Previous work (Sarkar, 2003) suggested a number of gender-specific perceptions of mental health constructs within the target consider cultural factors in mental health programming (American Psychological Association [APA], 1990, 2003; Hall & Okazaki, 2002; (Anshell, Porter, & Quek, 1998; Bird & Harris, 1990; Block & Robins, Broader socio-cultural factors also play an important role in influencing mental health of individuals through the process of socialization. of gender role attitudes, beliefs/stereotypes, and gender-specific behaviors which contribute to the gender differences in mental health constructs (Sarkar, 2003). gender differences in mental health constructs in the context of culture combines the use of ethnographic and factor analytic methods to develop and test psychological instruments for students located in Sri Model of Mental Health (EDMMH; Nastasi et al., 2005) as the conceptual framework for investigating individual and cultural factors related to work_y6xvhkczvjdslpwrorji4thpga familial intrahepatic cholestasis type 1 (PFIC1), were previously mapped to 18q21. develop progressive liver disease, characterized histologically by portal inflammation, proliferation of the bile duct progressive familial intrahepatic cholestasis patients with Our results demonstrate that mutations in the human MDR3 gene lead to Progressive familial intrahepatic cholestasis (PFIC) is the gene mutated in PFIC1 and BRIC patients, termed FIC1 (for familial intrahepatic cholestasis 1), exhibits significant similarity to a subfamily of P-type ATPase genes that encode findings suggest that spgp is a canalicular bile acid transporter and that mutations of the human liver SPGP gene are identified in patients with PFIC2 (Richard Thompson, Department of Pediatrics, University College London Medical School, familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22 the patients with progressive familial cholestasis (PFIC-2). We recently reported the positional cloning of a candidate gene for hereditary hemochromatosis called HFE. work_y7jerywg7vcjpjcrmy6swfadcq Insights into the mechanism of the Na+/Ca2+ exchanger from atomistic molecular dynamics simulations molecular mechanism of function of SSSF proteins. molecular modeling constrained by experimentally determined intramolecular distances and template restraints derived from the tenhelix core of the vSGLT crystal structure [2]. [3] resulted in an ensemble of helix bundle structures. external loop (eL) 9 of PutP upon sodium and/or l-proline binding. Mitochondrial carrier structure and diseases To date eleven disorders are known to be caused by defects of mitochondrial carriers, a family of proteins that shuttle a variety of metabolites revealed the existence in mitochondrial carriers of a substrate-binding mutations of the mitochondrial carriers. Palmieri, C.L. Pierri, FEBS Lett. E-mail: fabrizio.marinelli@biophys.mpg.de molecular modeling to investigate the occupancy and specificity of the ion binding sites in NCX_Mj, and the microscopic mechanism by which Na+ and Ca2+ are exchanged across the membrane. [3] T.M. Kang, D.W. Hilgemann, Nature 427 (2004) 544–548. http://dx.doi.org/10.1016/j.bbabio.2012.06.105 http://dx.doi.org/10.1016/j.bbabio.2012.06.105 http://dx.doi.org/10.1016/j.bbabio.2012.06.105 work_ya35v4nmzzbmbeatjierlyljo4 A Review of the Research and a Tentative Theory | Semantic Scholar Such materialistic values stand in contrast to the economic attitude of thrift, which encourages saving, self-sufficiency, reuse of goods, and avoiding debt. Sort by Most Influenced Papers View 2 excerpts, cites methods View 1 excerpt, cites background View 1 excerpt, cites background View 1 excerpt, cites background View 1 excerpt, cites background View 1 excerpt, cites background Some Costs of American Corporate Capitalism: A Psychological Exploration of Value and Goal Conflicts The use and abuse of consumer credit: Application of psychological theory and research View 1 excerpt, references background View 1 excerpt, references background View 1 excerpt, references background View 1 excerpt, references background View 1 excerpt, references background View 1 excerpt, references background View 1 excerpt, references background Semantic Scholar is a free, AI-powered research tool for scientific literature, based at the Allen Institute for AI. work_ya36l2miezdmvlweal3zer73si Variants in Scavenger Receptor Class B Type I Gene Are Associated with HDL Cholesterol Levels in Younger Women SCARB1 SNPs influence HDL-C levels in women, particularly type I ( SCARB1 ) receptor gene have been previously associated with lipid levels, especially in women, with some studies reporting the association to be stronger in the presence reported gender-specific association and modification effect of estrogen on lipid levels according to SCARB1 variants, we explored the relationship between SCARBI single nucleotide polymorphisms (SNPs) and lipid levels in an Amish population to assess sex and age differences. Gender-specific associations have been reported between some of the SCARB1 variants and lipid levels, an However, they did report significant estrogen interaction with the rs5888 SNP on HDL-C levels, greater than 50 years of age, these two SNPs were not associated with HDL-C levels. Mean HDL-C levels (SE) according to SCARB1 SNP genotype in women ≥50 and <50 years of age work_ya6arrpxzreudgbsxnjs6txoui poly-A-polymerase (MTPAP), not previously recognized for its role in the DNA damage response, was identified by exome Further analysis of the cellular phenotype revealed delayed DNA repair, increased levels of DNA double-strand breaks, increased reactive oxygen species (ROS), and increased cell death after irradiation (IR). increased DNA damage, reduced repair kinetics, increased cell death by apoptosis, and reduced clonogenic survival after Keywords: radiosensitivity; MTPAP; DNA repair; sequencing; reactive oxygen species; DNA damage homologous recombination; IR, irradiation (ionizing); INDEL, insertion-deletion; LCL, lymphoblastoid cell line; MRN, protein complex; MRE11, NBS1, RAD50; MTPAP/ mtPAP, mitochondrial poly-A-polymerase; NAC, n-acetyl cysteine; NBS1, Nijmegen breakage syndrome 1; NCA, neutral comet assay; NHEJ, non-homologous end Figure 4 RS63-3 and -7 LCLs had normal mitochondrial respiration but increased levels of ROS and apoptosis post-IR. Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks work_ybxit4zipfa2lbi2usrkbgdwzq sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219637258 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:20 If you need further help, please send an email to PMC. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_yc7hclidoragph767yh7pbjf2a Abstract The Anabaptist Amish, Hutterite and Mennonite peoples trace their origins to the Reformation. data collected during a study of aging in Mennonite population samples from Goessel and Meridian, Kansas, 1980, and Henderson, Nebraska, 1981, formed the basis of a cohort analysis in order to assess Thus, in this study, reproductive histories for women, representing population samples from one Nebraska The demographic data from the communities of Goessel and Meridian, Kansas, and Henderson, Nebraska, were taken as part of a larger reproductive histories for 233, 223 and 47 women from Goessel, Henderson and Meridian, respectively. Goessel, Henderson, and Meridian, the mean completed family sizes for The mean age at last birth fluctuates around the age of 34 for Meridian women, but decreases 7.7 and 1.6 years, respectively, from 1900 to The mean age at first birth decreased in later cohorts from both communities and significantly so for Goessel women although it is apparently work_ycrc4bezhra7fh7dtm7p2jf6ci Evidence that dirty electricity is causing the worldwide epidemics of The epidemics of obesity and diabetes most apparent in recent years had their origins with source of high-frequency voltage transients (dirty electricity). grid, electrified populations have been exposed to dirty electricity. major source of dirty electricity today and are used almost universally to electrify small islands diabetes prevalence, fasting plasma glucose and obesity are highest on small islands and other places electrified by generator sets and lowest in places with low levels of electrification like island excess was due to dirty electricity from diesel generator electricity levels in the generators'' outputs were measured wave form and high dirty electricity levels. forms and high dirty electricity levels (tracings available on Dirty electricity has been associated with diabetes (Havas, FPG, diabetes and BMI should all have high levels of dirty DOI: 10.3109/15368378.2013.783853 Dirty electricity obesity and diabetes 3 caused by exposure to dirty electricity. work_ygairnvbajclbiz4r54gwnbvza Farm Safety Issues in Old Order Anabaptist Communities: Unique Aspects and Innovative injuries within Old Order Anabaptist communities or categorized data such that these cases could paper focuses on the problem of farm-related injuries within Old Order Anabaptist communities. As previously indicated, consolidated farm injury data concerning Old Order communities are reporting agencies generally do not separate farm-related fatalities according to religious reports of Old Order Anabaptist farm fatalities were drawn from the records of Purdue Of the ninety-five (95) cases identified as Old Order Anabaptist farm-related fatalities, four cases found in non-Old Order Anabaptist farm communities, suggesting greater involvement of involvement of members of the Old Order Anabaptist community in off-farm occupations, Though children are frequently the victims of fatal farm injuries in the overall population (Field It is possible that the high number of child fatalities may be related to the Old Order Anabaptist work_yha6edlnvnecfae5mwhswr44bq sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219648949 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:34 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_yhfatboel5ctxogom2u6jdwwg4 Amy Gutmann''s Identity in Democracy is a recent addition to the important with ''identity politics'' in contemporary liberal democracies. evidence to reveal ''the good, the bad, and the ugly of identity politics'' (p. questions about the political ethics of identity groups in democracy'' (p. With Identity in Democracy, Gutmann hopes to redress that deficiency. identity groups; in particular, it typically neglects to distinguish between identity groups might and often do pursue self-interests, it is, Gutmann argues, identity groups present in contemporary liberal democracies — cultural (e.g. the Pueblo, the Basques, the Old Order Amish), voluntary (e.g. the Jaycees, the Gutmann concludes that identity groups are intrinsically neither good nor to distinguish between identity groups that should be encouraged vs those that the presence of identity groups and their active involvement in democratic provocative analysis of the relationship between identity groups and democratic Further, though Gutmann is a political theorist by work_yjfa4hjqfve7ldfrku3f26swnm In human mitochondria, polyadenylation of mRNA, undertaken by the nuclear-encoded mitochondrial poly(A) RNA polymerase, is optic atrophy, present among the Old Order Amish, identified a mutation of MTPAP associated with the disease phenotype. subjected to poly(A) tail-length assays, mitochondrial mRNAs from affected individuals were shown to have severely truncated poly(A) Although defective mitochondrial DNA maintenance underlies a well-described group of clinical disorders, our findings reveal a defect of mitochondrial mRNA maturation associated with human disease and imply that this disease mechanism should be considered mitochondrial poly(A) RNA polymerase gene MTPAP RNA (2.5 mg) from each individual was ligated to linker and subjected to the mitochondrial poly(A) tail-length assay as described in 4. Simpson, M.A., Cross, H., Proukakis, C., Pryde, A., Hershberger, R., Chatonnet, A., Patton, M.A., and Crosby, A.H. Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia work_yjzmrgqcabhxjg7eptzzjeocci Genomics in Conservation: Case Studies and Bridging the Gap between Data and Application 2Wildlife Program, Fish and Wildlife Genomic Group, College of Forestry and Conservation, 9Alaska Department of Fish and Game, Division of Wildlife Conservation, 802 3rd Street, 10Gene Conservation Laboratory, Alaska Department of Fish and Game, 333 Raspberry Road, 12Washington Department of Fish and Wildlife, Molecular Genetics Laboratory, 600 Capitol sequencing; conservation practice; genetic monitoring; natural resource management. application of genomics in conservation and management as well as increased communication collaboration would enhance the application of genomics to real-world conservation and help genomics contributes to conservation practice. We define broad-sense conservation genomics as Narrow-sense genomic approaches have been used for diverse conservation applications Other applications of broad-sense conservation genomics are evident (Table S1) and contributions of genomics to conservation by not fully highlighting the work of these (2010) Genomics and the future of conservation genetics. (2013) Genotyping-by-sequencing in ecological and conservation genomics. work_yklfv4ser5cpfgexkgtjzjfnqu Intestinal cell kinase (ICK) is a member of the cyclindependent kinase family of proteins. identify ICK mutations in between a genetic variant and a subphenotype may indicate that the variant has a direct effect on that subphenotype, or perhaps the variant affects a second subphenotype disease subphenotypes and gene variants. been found to be associated with Crohn disease, Chapman report which variants have direct effects on certain individuals by about 24 genes as a result of the nonsense an alternate view on the effects of nonsense mutations. work is involved in gaining family information about individuals who contributed material for the CEU HapMap contributing genetic samples. People who are affected with synaesthesia react in unexpected ways to certain stimuli. 98 The American Journal of Human Genetics 84, 97–98, February 13 effects of synaesthesia can vary, and the disorder can lead brain are activated in people with synaesthesia when work_ykwyiiwlozhbzo3znsk553ggha Textiles, Clothing & the Human Element Years ago, anthropologists gave no attention to clothing and dress; but in the 1980s, a new research agenda was through agency, practice, and performance－no doubt, clothing very much has a human element. In 1987, the Clothing and Textiles Research Journal This includes economic, socialization, communication, arts & aesthetics, world view, technology, Textiles can be worn, exchanged, displayed or used to communicate ideological values and human conditions such as poverty, As the world becomes increasingly globalized, textiles and clothing traditions have been hybridized. For most Amish, clothing represents several dimensions of their cultural values including nonconformity, humility, modesty, utility, thrift, and group The development of China''s textile and clothing industries 164 Textiles, Clothing & the H uman Element 복식문화연구 164 Textiles, Clothing & the H uman Element 복식문화연구 164 Textiles, Clothing & the H uman Element 복식문화연구 Clothing and Textiles Research Clothing and Textiles Research Clothing and Textiles Research work_ympzxoxajjcbbnmafs3wxnxs4e this study, specific growth charts for EvC patients were growth charts should be useful in the follow-up of EvC create growth charts specifically for children with EvC. Growth data of 101 EvC patients were available for Data points of male and female patients per age group Fig. 5 Growth chart for boys from 0 to 20 years of age with Ellis–van Fig. 5 Growth chart for boys from 0 to 20 years of age with Ellis–van Fig. 5 Growth chart for boys from 0 to 20 years of age with Ellis–van Fig. 6 Growth chart for girls from 0 to 20 years of age with Ellis–van Fig. 6 Growth chart for girls from 0 to 20 years of age with Ellis–van Fig. 6 Growth chart for girls from 0 to 20 years of age with Ellis–van Growth charts for children with Ellis–van Creveld syndrome Growth charts for children with Ellis–van Creveld syndrome work_yn5dn4iu75epvevq6tubysghue sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219640911 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:25 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_ynhifrqzcfgxdeu7qpmreun7je Moynahan'' reported male sibs with mental condition in two sibs whose parents were consanguineous was reported by Perniola et al.3 Mohr and Majewski syndromes: Majewski syndromes is discussed. Mohr and Majewski syndromes each behave as a Temtamy and McKusick3 reported two subjects whose clinical features Mohr syndrome, survival is the rule and the tibiae patient with features of Majewski syndrome whose features of Mohr syndrome, whereas a third sib who rABLE Comparison of clinical features in the present patient with those of Alohr and Majewski syndromes. Majewski syndrome Mohr syndrome Present patient facial features were compatible with either syndrome. Majewski syndrome, while the severe hypoplasia mild example of Majewski syndrome or an unusually severe example of Mohr syndrome. present report have a recessive condition and that the Parental consanguinity and the Majewski syndrome. Short rib-polydactyly (SRP) syndromes, types Majewski and SaldinoNoonan. Genetic and clinical heterogeneity in the oral-facial-digital syndromes. work_ynjtnnf4ozbm5ayeyhmuulumne sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219632298 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:14 If you need further help, please send an email to PMC. Include the information from the box above in your message. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_ynlihd3vdrex3bqmcr6prrpmou SAMHD1 mutations involves cerebral vasculopathy characterized by multifocal stenosis and aneurysms within vasculopathy of the homozygous SAMHD1 mutationmediated auto-inflammatory disease SAMS responded favorably to tocilizumab infusion therapy. in this gene can also cause the rare genetic condition, AicardiGoutières syndrome (AGS, MIM225750), which bears a phenotypic resemblance to this cerebral vasculopathy occurring of self-activated innate immunity, including negative regulation of the IFN-stimulatory DNA (ISD) response. purpura [23], giant cell arteritis [24, 25], acute Kawasaki disease [26–28], and various large vessel vasculitides [29–33]. disease remission for refractory neuro-Behçet''s disease, relapsing or refractory giant cell arteritis, and large vessel vasculitis secondary to Takayasu''s arteritis, Cogan syndrome, and Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke. (2009) Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation work_yoojcpbyovbyfnltwxq6s5e5fq We investigated possible genetic influences on women''s liability to preterm birth, using data from a large sample of Australian female twin pairs. of 905 parous twin pairs (579 monozygotic and 326 dizygotic) reported on whether deliveries had Tetrachoric twin pair correlations for first birth were Best-fitting models to data contained only additive genetic influences and further investigation of genetic influences on specific reasons for preterm birth is warranted. Keywords: Preterm birth, pregnancy outcome, twins, genetics Premature delivery (preterm birth) was defined in We investigated parous twins'' independent reports of premature delivery of first baby, and also reports of higher prevalence of multiple births in the DZ twins. ( > 2:1) shown in Table 1 suggests that genetic influences may be operating on premature parturition.10 a premature delivery for any birth, the best fitting Genetic influences on preterm birth in Australian twin mothers Genetic influences on preterm birth in Australian twin mothers work_ysllfxwnx5bsrc5tl73uiq4qcm The familial aggregation of cases has long been held to indicate a major genetic factor in manicdepressive disorders but this information has not been sufficient to be of practical use clinically. LINKAGE BETWEEN A DISEASE GENE LOCUS AND A MARKER If linkage can be established by a consistent tendency to cosegregation between a marker gene and showed transmission of affective disorder, was the subject of the linkage studies carried out by calculation in the first study for the use of a large number of markers (20), as opposed to a single The second is that the first round of linkage tests defined a set of cosegregating segments of DNA Whereas in linkage studies the problem is the number of loci at which markers Construction of a genetic linkage map in man using restriction HLA antigens in affective disorders and schizophrenia. Bipolar affective disorders linked to DNA markers on chromosome interval under possible heterogeneity. work_ytgbqyqrfrblveikwdeoa7phqa A prior genome-wide linkage scan in Pima Indians indicated a young-onset (aged <45 years) type 2 diabetes between these genes, were genotyped for association analysis in the same group of Pima Indians who had were nominally associated with young-onset type 2 diabetes (P � 0.01; odds ratio 3.39) after adjusting for sex, lower mean nonoxidative glucose storage rate after adjusting for age, sex, nuclear family membership, and percentage of body fat (P < 0.01). genes for type 2 diabetes in the Pima Indians. outside of the regions that were sequenced, were genotyped for association analysis in the same Pima Indian 1. Association plot of the �log P values (additive model) for SNPs with young-onset type 2 diabetes versus position along a 300-kb region Representative* SNPs associated with young-onset type 2 diabetes in Pima Indians ARHGEF11, TYPE 2 DIABETES, AND PIMA INDIANS ARHGEF11, TYPE 2 DIABETES, AND PIMA INDIANS work_yuny5v534naavol2otad4swpou have been defined, only one proven inherited disease arising from a defect in ganglioside biosynthesis is known. because of defects in the first step of ganglioside biosynthesis (GM3 synthase), results in a severe epileptic disorder found at classified as a complex form of hereditary spastic paraplegia, present in families from Kuwait, Italy and the Old Order Amish. Our genetic studies identified mutations in B4GALNT1 (GM2 synthase), encoding the enzyme that catalyzes the second step in Keywords: ganglioside biosynthesis; B4GALNT1; Amish; SPG26; hereditary spastic paraplegia defect in GSL biosynthesis and previous reports of potential ganglioside biosynthesis disorders based on biochemical evidence have GM2 synthase activity of the encoded polypeptide, we investigated the biochemical effect of the mutation in cultured skin fibroblasts from an affected brother and sister from the Italian family, determine the structure of peak ''X'', we performed sialidase-A digests on both affected and unaffected fibroblast samples. work_yvm4uupjbrgl5mgragch6zwpty sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_yxg7ei3z2jaszfc7vv6blpq3fi sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219649697 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:35 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_yy66dg3ba5gupanz6hj2umeisq sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Table 1—Characteristics of respondents aged 45 years reporting screening for diabetes in a p p roach for the diagnosis of asymptomatic diabetes in patients with cystic fib rosis are pre s e n t e d . diabetic CF patients with normal HbA1 c, obesity observed in type 2 diabetic patients the other hand, patients with type 2 diabetes had significantly lower insulin secretion (212 ± 85 pmol l 1 m i n 1, P = insulin sensitivity in diabetic subjects. and glucose effectiveness in type 2 diabetic and glucose effectiveness in type 2 diabetic both of which can be safely used by diabetic patients during exposure to moderately high altitudes. patients with type 2 diabetes who were c o n t rol in patients with type 2 diabetes. work_yz5xnyt4zzfa5am7tnuhpfpnju sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Keep me logged in Login Login Login Login Register Register About Journals@UIC About Journals@UIC Journals@UIC Policies work_z3zp7qt4fzcjflqzbu55rz5fuq Study of band structure, transport and magnetic properties Charge transfer across the interface of two materials in a composite can create reconstruction of bands near the interface which in turn brings multiple changes in physical properties of the materials. UV–visible absorption spectrum, the valence band X-ray photoemission spectra (XPS), and ultraviolet photoemission The band structure thus obtained can successfully explain the magnetic and transport properties of the composite. Keywords BiFeO3 · TbMnO3 · Band structure · Magnetoelectric multiferroic An alternate option is to prepare composite of different multiferroic materials with a similar structure involving BiFeO3. Band reconstruction can influence many physical properties of the composite including transport and interesting to study the changes in transport and magnetic properties due to band reconstruction. Study of band structure, transport and magnetic properties of BiFeO3–TbMnO3 composite Study of band structure, transport and magnetic properties of BiFeO3–TbMnO3 composite work_z4wpysyww5dvzm255oygx2eqe4 embedded central line insertion practices (CLIP) elements in inserter procedure notes, captured enforced daily documentation of line necessity in physician progress notes. changes in CLIP compliance and form submission, number of new line insertions captured, The central line insertion practices (CLIP) checklist form was developed by the Centers for Diseases form, daily documentation of line necessity requires initiative on the part of the attending physician (EHR) solutions to improve CLIP documentation, capture CVC line days, and ensure documentation Our permanent EHR solution created an electronic procedure note with embedded CLIP form documentation of new lines and electronically submitted CLIP forms. (A) Input elements for the electronic physician procedure note documenting insertion of a central Phases of increased electronic capture of central line insertion practices (CLIP) form electronic nursing documentation and physician procedure notes, CLIP form submission Central line insertion practices (CLIP) form submission and compliance over work_z53rgrucjrbcvh2bkhuihqvare Finally, plasminogen mRNA expression in liver samples derived from 76 Caucasian subjects was not significantly different between carriers and noncarriers of these two genetic variants. and show that these polymorphisms are not major modulating factors for plasma plasminogen levels and In addition, single nucleotide polymorphisms (SNPs) in the LPA gene are associated with Lp(a) levels. Indeed, a recently published study by our group has provided additional evidence that these variants are significantly associated with To evaluate whether LPA genetic variants affect plasma plasminogen between the carriers and noncarriers of the two LPA genetic variants Association between LPA genetic variants and plasma Figure 3 Plasma plasminogen levels among the OOA subjects for the plasminogen levels, we investigated whether LPA SNPs rs3798220 Consistent with previous studies, the plasma Lp(a) levels were significantly higher for carriers of genetic determinants of plasma plasminogen levels. variants associated with Lp(a) lipoprotein level and coronary disease. work_zangns3u2vfkrmsmegkffywn2q Cost-Effectiveness of Pulse Oximetry Screening for Critical Congenital Heart Defects in Ontario Background: Pulse oximetry screening (POS) for critical congenital heart defects (CCHDs) is Objective: To estimate cost-effectiveness of POS for CCHD in Ontario, Canada. Initial studies on the use of pulse oximetry screening (POS) for detection of CCHD were positive results; there have been a number of cost-effectiveness analyses of POS for CCHD.(24, Abbreviations: CCHD – critical congenital heart disease; ICER – incremental cost-effectiveness ratio; determine the value of POS from a health care perspective, a cost-effectiveness threshold of Table 4.11: Estimates of costs and ranges for health states used in Markov model Table 4.12: Estimates of costs and ranges unrelated to health states used in model Abbreviations: CCHD – critical congenital heart disease; POS – pulse oximetry screening Abbreviations: CCHD – critical congenital heart disease; POS – pulse oximetry screening screening for congenital heart defects: a probabilistic cost-effectiveness model and value of work_zcpzpa453jagbngbcpzwiwvqgm A Day in the Life: Matt Ruark error_outline JavaScript disabled You have to enable JavaScript in your browser''s settings in order to use the eReader. Or try downloading the content offline DOWNLOAD work_ze6hapju2vg7nhcr7xigmjiawi sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219634427 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:17 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_ze6v7zbzhvfthoxxlipquygt3a Closing the Gap: Results of the Multicenter Canadian Randomized Controlled Trial of Structured Transition in Young Adults With Type 1 Diabetes Clinic attendance was improved in the transition program (mean [SD] number of clinic attendance, improved satisfaction with care, and decreased diabetes-related young adults with type 1 diabetes disengage from care during transition and 46% Studies that have evaluated transitional care in young adults with type 1 trials that have tested the effect of transition strategies on follow-up visit adherence and glycemic control after transfer of The study was a multicenter, randomized, parallel-group, controlled trial conducted in three pediatric (two tertiary care group followed the same clinic visit (49%) participants in the transition program and 47 (47%) in standard care attended both follow-up visits (Table 2). and a secondary clinical practice following young adults with type 1 diabetes with type 1 diabetes after transition of care from work_zegrvce5zjbudny25iok36hgxa sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Parkinson''s Disease-Related Motor and Nonmotor Symptoms in the Lancaster Amish Parkinson''s disease-related motor and non-motor symptoms are not more prevalent in the Lancaster Amish A Genome‐Wide Linkage Screen in the Amish with Parkinson Disease Points to Chromosome 6 Evaluation of a screening questionnaire for genetic studies of Parkinson''s disease. American journal of medical genetics. American journal of medical genetics. Parkinson disease in twins: an etiologic study. By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License work_zfi3ayqebfd5rj5ywvh7n7plni demonstrates the capability of direct labeling on nanocomposite by use of scanning helium ion microscopy Surface morphology of the graphene sheets was studied employing a variable pressure scanning electron The successful synthesis of graphene and Au nanoparticles decorated graphene was confirmed by ultravioletvisible (UV-Vis) spectroscopy (Figure 1). When Au nanoparticles were decorated onto the graphene, a broad peak in the visible range was observed The formation of stabilized Au-graphene nanocomposite was further confirmed by the XPS spectra as The N1s peak at 403.5 eV shows clearly the functionalization of graphene by acid treatment. Figure 2 Core level spectra of Au-graphene nanocomposite. spectra present in Au-graphene nanocomposite Figure 3 SEM images of graphene. Showing (a) nano-patterning by direct write deposition and (b) distribution of gold particles marked with a set of nanoparticles: the role of oxygen moieties at graphene surface on gold and patterning of graphene with helium ions. work_zg7faev4ync6tcgozwqxwrboxi Debate: No bipolar disorder in prepubertal children at high familial risk Debate: No bipolar disorder in prepubertal children Department of Child and Adolescent Psychiatry/Psychology, Erasmus MC-Sophia Children''s Hospital, Rotterdam, The Over the last two decades, a huge increase in pediatric bipolar disorder (PBD) diagnoses has been While the diagnostic criteria of bipolar disorder during adulthood are generally accepted, the term Bipolar disorder in adolescents has patients often have a high familial load for bipolar disorders. BIOS study and the Dutch Bipolar Offspring Study (Mesman et al., 2016). were significantly more common in the Pittsburgh sample, as was the prevalence of comorbidity in the bipolar bipolar II or NOS disorder), they had an earlier age of stress and effect of the recruitment strategy in understanding rates of offspring psychopathology and comparing cohorts. psychosis or bipolar disorder The Danish High Risk and US offspring of parents with bipolar disorder: A preliminary work_zgn3gbcvwrgkplxr3ggorlzsuy Biomarkers of acute appendicitis: systematic review and cost–benefit trade-off analysis Background Acute appendicitis is the most common surgical emergency and can represent a challenging diagnosis, biomarkers associated with appendicitis to more appropriately assign risk and allocate further diagnostic investigation. WCC White cell count, CRP C-reactive protein, IL-6 Interleukin 6, 5-HIAA Urinary serotonin, Sens Sensitivity, Spec Specificity The pooled sensitivity of C-reactive protein for the diagnosis of acute appendicitis was 0.76 (95 % CI 0.75–0.78; diagnostic ability of the biomarker with respect to suspected appendicitis and can spuriously improve the specificity. Table 3 Normalized scores (out of 100) for the six biomarkers with respect to financial cost, time, diagnostic benefit (composite of sensitivity, In fact, no single biomarker had all the desired characteristics for the diagnosis of acute appendicitis. diagnostic value of procalcitonin in patients with acute appendicitis. Biomarkers of acute appendicitis: systematic review and cost--benefit trade-off analysis work_zgpxbhnmbfbhjnc3icagpj3vfu The treatment of hypertriglyceridemia (HTG) with v-3 fatty acid preparations adds a novel therapy to The evidence that v-3 fatty acid therapy at prescription strength is effective and safe at lowering Although EPA/docosahexaenoic acid formulations did lower triglyceride trials have shown that decreased levels of low-density lipoprotein can be achieved with EPA preparations. The addition of v-3 fatty acid treatment should be considered in patients with severe HTG as well as Major clinical factors of CVD risk include highplasma cholesterol and high triglycerides. interventions to lower triglyceride levels include statins, fibrates, nicotinic acid, and v-3 fatty acids [13,21]. " v-3 fatty acid consistently lowers triglyceride levels. " v-3 fatty acids add a novel therapy to at risk patients. icosapent ethyl 2 g/day decreased triglyceride levels DHA, docosahexaenoic acid; EPA, eicosapentaenoic acid; HTG, hypertriglyceridemia; LDL, low-density lipoprotein; TG, triglyceride. patients with very high triglyceride levels (the MARINE study). work_zjehnsgwnjg7bmxpolu7th7psq Words on Fire: The Unfinished Story of Yiddish (review) Words on Fire: The Unfinished Story of Yiddish (review) the history (and prehistory) of the Yiddish language. Yiddish''s place in the world of Jewish Europe. mastered the Hebrew of the Bible and the Aramaic of the Talmud (the "real men" of traditional Jewish culture) and uneducated men who generally could read only Yiddish fomented an additional derogatory association As Katz demonstrates, the dismissal and derogation of Yiddish as an effeminate language persists up to the present day in Yiddish presents a fascinating case study of the intersections of language Although Katz painstakingly charts the history of speakers of Yiddish and provides an excellent framework for understanding how the language emerged and grew, he is rather makes the claim that Yiddish as a living language published by Herald Press, Ervin Beck''s MennoFolk: Mennonite and Amish Folk Traditions work_zlydxbcqmraevdjeh6ulvqh32u Genome-Wide Association Study for Coronary Artery Calcification With Follow-Up in Myocardial Infarction Genome-Wide Association Study for Coronary Artery Genome-wide significant associations with CAC for SNPs on chromosome 9p21 near of SNP associations with both CAC and MI at a number of other loci, including 3q22 (MRAS gene), 13q34 *Drs O''Donnell, Kavousi, Smith, Kardia, Harris, Hofman, Peyser, Borecki, Cupples, Gudnason, and Witteman contributed equally to this work. GENOA, Genetic Epidemiology Network of Arteriopathy; RS, Rotterdam Study; CAC, coronary artery calcification; HDL, high-density lipoprotein; MI, Top SNP Association Results for Coronary Artery Calcification Quantity in the Meta-Analysis of 5 Discovery Cohorts Association of Top Coronary Artery Calcification Quantity SNPs in the Replication Panel of 3 Cohorts and Combined With Association of Top Coronary Artery Calcification Quantity SNPs With Myocardial Infarction in a Meta-Analysis of 4 Studies SNP indicates single-nucleotide polymorphism; MI, myocardial infarction; GWA, genome-wide association; and CAC, coronary artery calcification. work_zmruuw3iqbbw3cqbvqxtgzjkwq sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_znp6mi3zyje4jcsx4pbroetxau sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219642423 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:27 If you need further help, please send an email to PMC. Include the information from the box above in your message. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_zpnbhjwhkbc53kiy2abyiq2spu diffraction data reveals that Ca and La ions are intermixed at the nominal Ba and Nd sites. structure the extra oxygen occupies the antichain site the localization of holes.6–8 Accompanying the LR3+ substitution on the Ba2+ site is a change in the crystal structure substitution of Ca and La at the Nd and Ba sites, respectively, on structure and superconductivity of �Nd1−xCax� site, the oxygen content would have to increase to maintain coordinates, fractional occupancies, and the thermal parameter �Ui� for different atoms �including various oxygen sites The R and the two Ba atoms occupy crystallographically distinct sites with eightfold and tenfold oxygen coordinations, respectively. The observed variations of lattice parameter and cell volume with Ca content are shown in Fig. 3. It is well known that Ca substitution at the R-site decreases the oxygen content of R-123 compounds; however, La substitution at the Ba-site increases the oxygen work_zqfxngd6tng5rdptehqmtxhy4a tions for screening the general population aged 45 years for diabetes every years to assess the diabetes screening practices in this population. Table 1—Characteristics of respondents aged 45 years reporting screening for diabetes in a p p roach for the diagnosis of asymptomatic diabetes in patients with cystic fib rosis are pre s e n t e d . diabetic CF patients with normal HbA1 c, obesity observed in type 2 diabetic patients the other hand, patients with type 2 diabetes had significantly lower insulin secretion (212 ± 85 pmol l 1 m i n 1, P = insulin sensitivity in diabetic subjects. and glucose effectiveness in type 2 diabetic and glucose effectiveness in type 2 diabetic both of which can be safely used by diabetic patients during exposure to moderately high altitudes. patients with type 2 diabetes who were c o n t rol in patients with type 2 diabetes. work_zqhaamoafjdg5o5ptsz27yecvy Coverage Error Embedded in Self-Selected Internet-Based Samples: A Case Study of Northern Indiana | Semantic Scholar Corpus ID: 8856295Coverage Error Embedded in Self-Selected Internet-Based Samples: A Case Study of Northern Indiana title={Coverage Error Embedded in Self-Selected Internet-Based Samples: A Case Study of Northern Indiana}, Based on the response to a question regarding willingness to provide contact information on the Internet, the respondents of two conventional tourism surveys were assigned to likely, somewhat likely, and not likely… Expand Contrasting online and onsite sampling methods: Results of visitor responses to a destination survey Online versus paper: format effects in tourism surveys An error-based comparison of online and on-site tourism destination surveys. Internet-Based Evaluation of Tourism Web Site Effectiveness: Methodological Issues and Survey Results Sampling for Internet Surveys. View 7 excerpts, references background and results Semantic Scholar is a free, AI-powered research tool for scientific literature, based at the Allen Institute for AI. work_zqhzxia4krfvnc4vunvv4x2dua sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. 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Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_zryuqf5o5nhrvikeeqk3br5bva sys_1000 wp-p1m-38.ebi.ac.uk wp-p1m-38.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write(''[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]''.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219648958 (wp-p1m-38.ebi.ac.uk) Time: 2021/04/06 02:38:34 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ work_zskerdjlwnfyrp7uacsy3vi5yi Arsenic exposure is associated with diminished insulin sensitivity in non-diabetic Amish adults No significant associations were found between urinary total arsenic and β-cell function measures. Copyright © 2015 John Wiley & Sons, Ltd. Keywords arsenic; β-cell function; insulin sensitivity; oral glucose tolerance test This is a preliminary study of the association between urinary arsenic and glucose homeostasis measures, conducted in the Amish Family Diabetes Study (AFDS), a Urinary total arsenic was significantly and inversely associated with all insulin sensitivity indices with adjustment remained significant for two of the three OGTT-based insulin sensitivity measures; an IQR increase in urinary total arsenic (6.24 μg/L) was significantly, inversely associated This is the first epidemiologic study to examine arsenic exposure and OGTT-based measures of insulin sensitivity We did not observe significant associations of urinary total arsenic with any measures of β-cell function. associations between arsenic metabolism and OGTTbased measures of insulin sensitivity and β-cell function. work_zsstma4xyfafxhk5z3qncqq6aa In a mouse line with the entire cardiac TnI gene deleted, a partial destruction of the slow TnT gene promoter produces a knockdown effect. The double transgenic mice exhibited decreased expression of slow TnT mRNA and protein in adult diaphragm muscle. As a consequence of slow TnT deficiency, the sTnT-KD diaphragm muscle contained a higher proportion of fast TnT, decreased slow TnI and binds the N-terminal domain of TnI independently of Ca2þ. TnH, and transmitted to the C-lobe of F1, resulting in a change in the interaction of the TnI inhibitory domain and actin. Decreased Fatigue Tolerance In Diaphragm Muscle Of Slow Troponin T Knockdown Mice Tracking of Qdot Conjugated Titin Antibodies in Single Myofibril Stretch Experiments Reveals Ig-domain Unfolding at Physiological Sarcomere Lengths Constitutive Phosphorylation of Cardiac Myosin Binding Protein-C Increases the Probability of Myosin Cross-bridge Interaction with Actin Obscurin Interacts with a Novel Isoform of Myosin Binding Protein C-Slow to Regulate the Assembly of Thick Filaments work_ztqb6ooilrbb5onim7mxqikgim other body parts, for example the wingbeating arm tremor of Wilson''s disease and patients with clear dystonic head tremor in a clear otolith influence upon head tremor Handbook of clinical neurology, torticollis following unilateral VIII nerve lesions: neck EMG modulation in response to Handbook of clinical neurology, vol 6. of slowly progressive spastic paraplegia, dysarthria, presenile dementia and mild athetosis. and during the following years she presented an Ohio Amish isolate by Cross and McKusick.''''There appears to be no similar cases Ultrasensitive TSH assay and anti-Parkinsonian treatment with levodopa deteriorates.'' Since clinical diagnosis of thyrotoxicosis is difficult in Parkinsonian slightest suspicion of hyperthyroidism, a hormonal evaluation of thyroid function (free T4, However, a decreased response of thyrotropin (TSH) after stimulation by TRH reported in Parkinsonian patients treated Thus the decreased TSH response ultrasensitive TSH level has the same significance as a decreased TSH response to