نتایج جستجو برای: mefv genotype

تعداد نتایج: 92495  

Background and objectives: Behcet's Disease (BD) is a rare severe recurrent inflammatory disorder affecting several body organs. Since Familial Mediterranean Fever (FMF) and BD affect almost a specific population, both diseases can mimic the other clinically, and these two diseases sometimes occur in the same family and the same patient, also due to the high prevalence of BD in Iran and perform...

2015
S Ugurlu AS Emekli E Tahir Turanli SG Benyakar G Çelikyapı Erdem H Ozdogan E Seyahi

Objectives Adult onset-Still’s disease (AOSD) and gout are considered as auto-inflammatory disorders. Both diseases run recurrent episodic course and respond to anti-IL 1 treatment. Additionally, increased frequency of MEFV variations in other inflammatory diseases other than FMF such as Behçet’s disease, ulcerative colitis and rheumatoid arthritis and raises the possibility that MEFV gene may ...

Journal: :Clinical genetics 2007
S Giaglis V Papadopoulos K Kambas M Doumas V Tsironidou S Rafail G Kartalis M Speletas K Ritis

Familial Mediterranean fever (FMF) is a disease characterized by recurrent, self-limiting bouts of fever and serositis and caused by altered pyrin due to mutated MEFV gene. FMF is common in the Mediterranean Basin populations, although with varying genetic patterns. The spectrum and clinical significance of MEFV alterations in Greece has yet not been elucidated. The aim of this study was to ana...

2014
DT Korkmaz PG Atak Ç Çelik

Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by fever and serosal inflammation. The reasons for the disorder are mutations in the Mediterranean fever (MEFV) gene; the most common of which are M694V, M680I, M694I and V726A. In this study, we aimed to screen these common mutations of the MEFV gene and then determine the prevalence of FMF according to these m...

2014
SERKAN CELIK FATIH TANGI CAGATAY OKTENLI

High frequencies of inherited variants in the Mediterranean fever (MEFV) gene have been identified in patients with multiple myeloma (MM). The sample size of the present pilot study was small, therefore, the actual frequency of inherited variants in the MEFV gene could be investigated in patients with MM. Twenty-eight patients with MM and 65 healthy controls were included in the study. Six hete...

2012
Serbulent Yigit Ahmet Inanir Nevin Karakus Esra Kesici Nihan Bozkurt

Ankylosing spondylitis (AS) is a common inflammatory rheumatic disease. Mediterranean fever (MEFV) gene, which has already been identified as being responsible for familial Mediterranean fever (FMF), is also a suspicious gene for AS because of the clinical association of these two diseases. The aim of this study was to explore the frequency and clinical significance of MEFV gene mutations (M694...

2013
A Soriano D Rigante L Cerrito C Fonnesu L Sicignano A Gallegos R Manna

Introduction Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among individuals of Mediterranean descent, caused by MEditerranean FeVer gene (MEFV) mutations on the chromosome 16. It is the most frequent periodic febrile syndrome among autoinflammatory syndromes. Eighty % of patients with FMF have MEFV mutations, while aro...

Journal: :Clinical and experimental rheumatology 2010
Kiyoshi Migita Takafumi Torigoshi Satoru Motokawa Masahiro Ito Taichiro Miyashita Yasumori Izumi Michio Yasunami

Sirs, It is now being recognised that familial Mediterranean fever (FMF) also occurs in non-Mediterranean populations, including Japanese (1). The arthritis of FMF consists of acute attacks of pain and swelling of one articulation at a time, most frequently affecting the large joints of the lower extremities within 2-3 days duration (2). In some cases, however, protracted arthritis develops, mo...

2016
Kiyoshi Migita Yasumori Izumi Yuka Jiuchi Nozomi Iwanaga Chieko Kawahara Kazunaga Agematsu Akihiro Yachie Junya Masumoto Keita Fujikawa Satoshi Yamasaki Tadashi Nakamura Yoshifumi Ubara Tomohiro Koga Yoshikazu Nakashima Toshimasa Shimizu Masataka Umeda Fumiaki Nonaka Michio Yasunami Katsumi Eguchi Koh-ichiro Yoshiura Atsushi Kawakami

BACKGROUND The aim of this study was to evaluate the clinical manifestations and prevalence of familial Mediterranean fever (FMF) in Japanese patients with unexplained fever and rheumatic manifestations. METHODS We enrolled 601 patients with unexplained fever or suspected FMF throughout Japan between 2009 and 2015. Patients were divided into three groups according to Tel Hashomer criteria: su...

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