{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,15]],"date-time":"2025-12-15T14:00:08Z","timestamp":1765807208539},"reference-count":28,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,10,8]],"date-time":"2014-10-08T00:00:00Z","timestamp":1412726400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J of Rheum Dis"],"published-print":{"date-parts":[[2016,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>The aim of the current study is to investigate the prevalence of familial <jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>editerranean fever gene (<jats:italic><jats:styled-content style=\"fixed-case\">MEFV<\/jats:styled-content><\/jats:italic>) mutations in a cohort of <jats:styled-content style=\"fixed-case\">E<\/jats:styled-content>gyptian children with inflammatory bowel disease (<jats:styled-content style=\"fixed-case\">IBD<\/jats:styled-content>), and to characterize familial <jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>editerranean fever (<jats:styled-content style=\"fixed-case\">FMF<\/jats:styled-content>)\u2010<jats:styled-content style=\"fixed-case\">IBD<\/jats:styled-content> patients, helping better understanding of <jats:styled-content style=\"fixed-case\">IBD<\/jats:styled-content> pathogenesis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The study enrolled 17 patients with ulcerative colitis (<jats:styled-content style=\"fixed-case\">UC<\/jats:styled-content>), 15 with Crohn's disease(<jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>), 10 with indeterminate colitis (<jats:styled-content style=\"fixed-case\">IC<\/jats:styled-content>) and 33 healthy children as controls. All cases and controls were tested for 12 <jats:styled-content style=\"fixed-case\">FMF<\/jats:styled-content> gene mutations by reverse hybridization after multiplex polymerase chain reaction amplification and <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> sampling.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Eighty\u2010eight percent of the <jats:styled-content style=\"fixed-case\">IBD<\/jats:styled-content> patients carried the mutations, with <jats:styled-content style=\"fixed-case\">S<\/jats:styled-content>equence variant <jats:styled-content style=\"fixed-case\">V<\/jats:styled-content>627<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content> being the commonest versus 42.4% of controls. No associations were found between <jats:italic><jats:styled-content style=\"fixed-case\">MEFV<\/jats:styled-content><\/jats:italic> gene mutations, and phenotypic characteristics of <jats:styled-content style=\"fixed-case\">IBD<\/jats:styled-content> patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">IBD<\/jats:styled-content> patients, in populations with a high background carrier rate of <jats:italic><jats:styled-content style=\"fixed-case\">MEFV<\/jats:styled-content><\/jats:italic> variants, should be screened for <jats:italic><jats:styled-content style=\"fixed-case\">MEFV<\/jats:styled-content><\/jats:italic> gene mutations, especially those diagnosed as indeterminate colitis. Testing larger numbers of healthy <jats:styled-content style=\"fixed-case\">E<\/jats:styled-content>gyptian children for <jats:italic><jats:styled-content style=\"fixed-case\">MEFV<\/jats:styled-content><\/jats:italic> gene mutation is important to further determine the allele frequency in <jats:styled-content style=\"fixed-case\">E<\/jats:styled-content>gypt.<\/jats:p><\/jats:sec>","DOI":"10.1111\/1756-185x.12482","type":"journal-article","created":{"date-parts":[[2014,10,8]],"date-time":"2014-10-08T08:51:16Z","timestamp":1412758276000},"page":"806-813","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Detection of <scp>M<\/scp>editerranean fever gene mutations in <scp>E<\/scp>gyptian children with inflammatory bowel disease"],"prefix":"10.1111","volume":"19","author":[{"given":"Samia","family":"Salah","sequence":"first","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine Cairo University Cairo 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