نتایج جستجو برای: mefv mutation

تعداد نتایج: 292011  

2015
Farhad Salehzadeh

Background. Familial Mediterranean fever (FMF) is a periodic AR autoinflammatory disorder. This comprehensive study describes FMF in Iran as a country near Mediterranean area. Materials and Methods. From the country FMF registration center 403 patients according to Tel-Hashomer criteria enrolled this study, 239 patients had MEFV gene mutations analyses. Data, if needed, was analyzed by SPSS v20...

2017
Songkiat Chantarogh Soamarat Vilaiyuk Thipwimol Tim-Aroon Suchin Worawichawong

BACKGROUND Juvenile idiopathic arthritis (JIA) is a common rheumatic disease in children and adolescents. Although JIA may cause secondary amyloidosis, this is a rare complication in patients with JIA and other rheumatic diseases. Many previous studies have revealed that common heterozygous or homozygous mutations in the MEFV gene are associated with systemic-onset JIA (SJIA). CASE PRESENTATI...

Journal: :European journal of medical genetics 2005
Myrna Medlej-Hashim Jean-Louis Serre Sandra Corbani Odile Saab Nadine Jalkh Valérie Delague Eliane Chouery Nabiha Salem Jacques Loiselet Gérard Lefranc André Mégarbané

Familial Mediterranean fever (FMF) is an autosomal recessive disease mostly frequent in Mediterranean populations. Over 50 mutations have been identified in the gene responsible for the disease, MEFV. The present study reports the frequencies of MEFV mutations in 558 Lebanese and 55 Jordanian FMF patients and points out the severity of the M694V frequently observed mutation among these patients...

2015
I Ben-Zvi Y Kassel O Kukuy C Herskovizh C Grossman A Livneh

Results Compared with the control group, more patients, homozygous for the M694 mutation, suffered from a severe disease (p=0.001), had higher frequency of attacks before and during colchicine treatment (p=0.0001 and 0.0007, respectively), had more related diseases (p=0.0373) and needed higher dose of colchicine to control their disease (p=0.0001). Most other features tested (Table 1) appeared ...

2007
Mohan Rao Ramnath Takiar Yashwant K. Sharma

used test for serial distribution of airway obstruction [2] and in Background: A recent review in silica dust exposed diagnosing chronic obstructive workers focused on airway obstruction and the variables disease in surveys of air pollution used were forced vital capacity (FVC), FEV1 and FEV1%. etc. Tests of peak flow (PEF), MEFR Original Article Nellore Mohan Rao, Ramnath Takiar, Yashwant K. S...

2013
F Salehzadeh O Yasrebi S Jahangiri S Hosseiniasl

Results 12 patients with idiopathic uveitis were enrolled in this study. 10 of them were female and 2 were male. The youngest patient was a 7-year-old child and the oldest was 57. The most common complaints of patients was blurred vision and then eye redness. One patient was heterozygous for Wt/R761H in the MEFV genetic analyses. Genetic analysis of 12 most common MEFV mutations in the patients...

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