نتایج جستجو برای: mediterranean mutation

تعداد نتایج: 329041  

Journal: :Respiration; international review of thoracic diseases 2010
J C Lega C Khouatra V Cottin J F Cordier

Familial Mediterranean fever (FMF) is a genetic autoinflammatory disease especially affecting populations of Mediterranean origin with an autosomal recessive inheritance. The cardinal manifestations consist of short febrile and painful attacks of peritonitis, arthritis and pleuritis developing during childhood. We report the case of a 26-year-old man of Tunisian descent who had febrile episodes...

2014
Ali Taylan Yasar Yildiz Ismail Sari Guliz Ozkok

Coexistence of familial Mediterranean fever (FMF) and other inflammatory disorders has been frequently reported, but no specific underlying factor has been identified. We report a patient with FMF who is presented with long-standing ankylosing spondylitis (AS) and cutaneous leukocytoklastic vasculitis (LV) of the lower limbs. It is the first report on combination of FMF with AS and LV. The Medi...

2011
Mehrez M. Jadaon

Venous thromboembolic disorders (VTE) are serious disorders with high morbidity and mortality rates. Many genetic and acquired risk factors were identified to cause VTE. The most common genetic risk factor is Factor V Leiden mutation (FVL). FVL was found in high percentage of populations of Caucasian origin but was almost absent in non-Caucasians. It was also reported in populations living in N...

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: :Archivos argentinos de pediatria 2015
Ünal Uluca Aydın Ece Velat Şen Salih Coşkun Ali Güneş Servet Yel İlhan Tan Müsemma Karabel Cahit Şahin

OBJECTIVE The aim of this study was to investigate the spectrum of Mediterranean fever (MEFV) gene mutations and genotype-phenotype correlation in children with familial Mediterranean fever (FMF) in southeast Turkey. METHODS A total of 507 children (274 females) with FMF and MEFV gene mutation(s) were included. A 15-year retrospective evaluation was conducted; parameters analyzed were: age, s...

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...

2015
Kwang Taek Kim Hyun Joo Jang Jae Eun Lee Mi Kang Kim Jun Jae Yoo Gye Yeon Lee Sea Hyub Kae Jin Lee

Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among populations surrounding the Mediterranean Sea. FMF is the most prevalent autoinflammatory disease; is characterized by recurrent, self-limited episodes of fever with serositis; and is caused by Mediterranean fever gene (MEFV) mutations on chromosome 16. We describe a c...

2012
Kyo Yeon Koo Se Jin Park Ji Young Wang Jae Il Shin Hyeon Joo Jeong Beom Jin Lim Jin-Sung Lee

Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by periodic episodes of fever and recurrent polyserositis. It is caused by a dysfunction of pyrin (or marenostrin) as a result of a mutation within the MEFV gene. It occurs mostly in individuals of Mediterranean origin; however, it has also been reported in non-Mediterranean populations. In this report, we describe...

2015
Morteza Jabbarpour Bonyadi Sousan Mir Najd Gerami Mohammad Hossein Somi Saeed Dastgiri

OBJECTIVES Familial Mediterranean Fever (FMF) is an autosomal recessive disorder characterized by recurrent episodes of fever accompanied by peritonitis, pleurisy, and arthritis. FMF affects mainly Mediterranean populations and is caused by mutations in the familial Mediterranean fever (MEFV) gene. The aim of this study was to identify the frequency and distribution of MEFV mutations in Iranian...

2015
Morteza Jabbarpour Bonyadi Sousan Mir Najd Gerami Mohammad Hossein Somi Saeed Dastgiri

Article type: Original article Objective(s):Familial Mediterranean Fever (FMF) is an autosomal recessive disorder characterized by recurrent episodes of fever accompanied by peritonitis, pleurisy, and arthritis. FMF affects mainly Mediterranean populations and is caused by mutations in the familial Mediterranean fever (MEFV) gene. The aim of this study was to identify the frequency and distribu...

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