نتایج جستجو برای: mediterranean fever

تعداد نتایج: 131387  

2013
B Chkirate A Dibi A Bentahila

Introduction Familial Mediterranean Fever ( FMF ) is an autosomal recessive inherited disease mostly wide spread in the Mediterranean basin. It is manifested by a fever associated with paroxystic painful attacks. The prognosis is determined by the occurrence of renal amyloidosis. The purpose of our work is to establish a genotypephenotype correlation between the MEFV gene mutation and the expre...

2013
G Keskindemirci N Aktay Ayaz E Aldemir C Aydogmus G Aydogan S Kavuncuoglu

Introduction Familial Mediterranean fever (FMF) is an autosomal recessive disease, mainly affecting Jews, Armenians, Turks, Arabs and other groups living around Mediterranean basin. Major symptoms of disease are recurrent periodic fever accompained by serositis. The disease is usually diagnosed at ages less than 20 years. Onset of the disease atolder age can rarely occur. Symptoms related to FM...

2017
Junko Yabuuchi Noriko Hayami Junichi Hoshino Keiichi Sumida Tatsuya Suwabe Toshiharu Ueno Akinari Sekine Masahiro Kawada Masayuki Yamanouchi Rikako Hiramatsu Eiko Hasegawa Naoki Sawa Kenmei Takaichi Takeshi Fujii Kenichi Ohashi Kiyoshi Migita Takao Masaki Yoshifumi Ubara

A 54-year-old Japanese man presented with recurrent abdominal pain, fever lasting >5 days, and renal failure. AA amyloidosis was proven by renal and gastric biopsy. Symptoms subsided with the administration of colchicine, but a subsequent recurrence of symptoms did not respond to colchicine. Mediterranean fever gene (MEFV) analysis showed that he was heterozygous for mutations in exon 2 (E148Q/...

Journal: :The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chi 2014
Chang Geun Lee Yun Jeong Lim Hyoun Woo Kang Jae Hak Kim Jun Kyu Lee Moon Soo Koh Jin Ho Lee Hee Jin Huh Seung Ho Lee

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent episodes of fever and serosal, synovial, or cutaneous inflammation, caused by a dysfunction of pyrin as a result of mutation within the MEFV gene. It occurs mainly among Mediterranean and Middle Eastern populations, including Jews, Arabs, and Turks. However, FMF cases have been reported outside the M...

Journal: :Case reports in medicine 2016
Yunus Ugan Atalay Doğru Hüseyin Şencan Mehmet Şahin Şevket Ercan Tunç

Familial Mediterranean fever (FMF) is an autoinflammatory disorder with autosomal recessive inheritance, characterized by recurrent fever and episodes of serositis. The condition is known to be caused by mutations in the MEFV (Mediterranean FeVer) gene, located in the short arm of chromosome 16. While more than 310 sequence variants in the MEFV gene have been described to date, the diagnosis is...

2015
L Guazzarotti M Carrabba S Beretta M Zarantonello I Sani GV Zuccotti G Fabio

Introduction Ectodermal dysplasia (ED) is a clinically heterogeneous condition characterized by the abnormal development of two or more ectoderm-derived structures. Mutations in ED1 gene, (Xq12-13.1), are the most frequent cause. X-linked Hypohidrotic Ectodermal Dysplasia (XL-HED) is characterized by association of sparse hair, abnormal or missing teeth and variable inability to sweat that may ...

Journal: :Postgraduate medical journal 2002
I H Mohammed R V Bhat

2014
Ivana Bozicevic Gabriele Riedner AliAkbar Haghdoost

The aim of the paper is to provide an overview of HIV case reporting data for the year 2011 from the countries of the World Health Organization Eastern Mediterranean Region (WHO EMR). Fourteen countries provided data for the year 2011 and reported a total of 4263 HIV cases of which 66.8% were men. The highest number of reported HIV cases in men per 100,000 population was in Oman (5.8), Somalia ...

2012
Abdulrahman O. Musaiger Hazzaa M. Al-Hazzaa Hamed R. Takruri Najat Mokhatar

1Nutrition and Health Studies Unit, Deanship of Scientific Research, University of Bahrain, Sukhair, Bahrain 2Arab Center for Nutrition, P.O. Box 26923, Manama, Bahrain 3Exercise Physiology Laboratory, King Saud University, P.O. Box 2458, Riyadh 11451, Saudi Arabia 4Department of Nutrition and Food Technology, Faculty of Agriculture, University of Jordan, Amman 11942, Jordan 5Unite Mixte de Res...

2013
E Demirkaya C Acikel A Gul M Gattorno E Ben-Chetrit H Ozdogan P Hashkes A Polat O Karadag A Livneh S Ozen

Introduction Severity is a basic feature that defines the prognosis of a disease. FMF presents with a variety of clinic and laboratory manifestations affecting severity, and evaluation of prognosis is an elusive task. Different severity scores have been previously proposed for FMF, and commonly used ones include Mor, Pras and Tel Hashomer severity scores however recent studies showed that there...

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