نتایج جستجو برای: m694v

تعداد نتایج: 202  

Journal: :Turk pediatri arsivi 2014
Ömer Faruk Beşer Fügen Çullu Çokuğraş Tufan Kutlu Ethem Erginöz Didem Gülcü Özgür Kasapçopur Tülay Erkan

AIM Familial Mediterranean fever (FMF) and inflammatory bowel disease (IBD) carry similar clinical and biological properties. Both are characterized with chronic inflammation attacks and neutrophil migration and impaired apoptosis mechanism are present in the areas of damage in both conditions. In our study, we aimed to determine the frequency of association of FMF in patients with IBD, to comp...

Journal: : 2023

Objective: We aimed to evaluate MEFV mutation frequency and the effects of mutations on clinical course including renal involvement in children with Henoch-Schonlein Purpura (HSP).
 Methods: Children a diagnosis HSP who were evaluated for presence enrolled this study. Patients primarily assigned into two groups based as Group 1 patients without 2 at least one allele (heterozygous, homozygo...

2016
Morteza BONYADI Gholamreza NIAEI Reza ABDOLMOHAMMADI

Familial Mediterranean fever (FMF), the most frequent of the periodic fever syndromes, is an auto-somal recessive disease, predominantly affecting people of Mediterranean descent, although recently it has been described in many other populations (1-3). Linkage between the gene responsible for FMF (MEFV) and the short arm of chromosome 16 was first shown in 1992. Mediterranean Fever (MEFV) gene ...

2012
Hala Salah El-Din Talaat Mohamed Farouk Mohamed Nihal Mohamed El Rifai Mohamed Ali Gomaa

BACKGROUND Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by self-limiting recurrent attacks of fever and serosal inflammation, leading to abdominal, thoracic or articular pain. OBJECTIVE To detect variable clinical presentations and genotypic distribution of different groups of FMF patients and the efficacy of colchicine therapy in treatment of these group...

Journal: :Clinical chemistry 2003
Isabelle Touitou

Familial Mediterranean fever (FMF) is an autoinflammatory disease mainly affecting populations surrounding the Mediterranean basin, with a genetic prevalence reaching 1–6% (1 ). Patients suffer from seemingly unprovoked bouts of fever, peritonitis, and arthritis, which resolve spontaneously. FMF has long been recognized as the sole “periodic fever”. Diagnosis often took years to establish after...

Journal: :Arthritis & rheumatology 2014
Riva Brik Yonatan Butbul-Aviel Sari Lubin Eliad Ben Dayan Tamar Rachmilewitz-Minei Lillian Tseng Philip J Hashkes

Familial Mediterranean fever (FMF), the most common monogenic autoinflammatory disease, is characterized by recurrent self-limited attacks of fever and serositis. Between 5% and 10% of patients are resistant to or intolerant of colchicine, the current standard of care (1). Pyrin, the mutated protein in FMF, has an important role in the regulation of interleukin-1 (IL-1 ) activation. This knowle...

Journal: : 2021

Amaç: Ailesel Akdeniz Ateşi (AAA), kökenli popülasyonlarda sıklıkla görülen otoinflamatuvar bir hastalıktır. MEFV genindeki mutasyonların, FMF'nin gelişiminin temelini oluşturduğu saptanmıştır. Bu nedenle, bu çalışmada mutasyonlarının tespitinde yeni nesil dizileme ve polimeraz zincir reaksiyonu yöntemlerinin olası farklılıklarını araştırmayı amaçladık. Gereç yöntem: çalışma 01.08.2018 - 12.03....

Journal: :Annals of the Rheumatic Diseases 2022

Background Familial Mediterranean Fever (FMF) is an autoinflammatory disease characterized by recurrent episodes of fever and serositis. Although it known that the attack frequency differs among patients carrying different mutant genotypes [1], whether physical environmental factors play a role in triggering attacks or they have influence on timing remains to be elucidated. Objectives We aimed ...

Journal: : 2023

Purpose: Familial Mediterranean Fever (FMF) is a hereditary auto inflammatory disease (MIM#249100). The most common symptoms are high fever, abdominal pain and arthralgia. FMF the result of variations in MEditerraneanFeVer (MEFV) gene, which located on chromosome 16p13.3, consists 10 exons encodes pyrin (marenostrin) protein. frequency MEFV gene variants that cause varies according to ethnic gr...

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