نتایج جستجو برای: fmf

تعداد نتایج: 1267  

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: :Proceedings of the National Academy of Sciences of the United States of America 2016
Hanne Van Gorp Pedro H V Saavedra Nathalia M de Vasconcelos Nina Van Opdenbosch Lieselotte Vande Walle Magdalena Matusiak Giusi Prencipe Antonella Insalaco Filip Van Hauwermeiren Dieter Demon Delfien J Bogaert Melissa Dullaers Elfride De Baere Tino Hochepied Joke Dehoorne Karim Y Vermaelen Filomeen Haerynck Fabrizio De Benedetti Mohamed Lamkanfi

Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease worldwide. It is caused by mutations in the inflammasome adaptor Pyrin, but how FMF mutations alter signaling in FMF patients is unknown. Herein, we establish Clostridium difficile and its enterotoxin A (TcdA) as Pyrin-activating agents and show that wild-type and FMF Pyrin are differentially controlled by ...

2011
Y Berkun A Karban S Padeh Y Shinar E Pras M Lidar A Livneh Y Bujanover

OBJECTIVE Familial Mediterranean fever (FMF) and Crohn's disease are autoinflammatory disorders, associated with genes (MEFV and NOD2/CARD15, respectively) encoding for regulatory proteins, important in innate immunity, apoptosis, cytokine processing, and inflammation. Although mutations in the MEFV gene were shown to modify Crohn's disease, the role of NOD2/CARD15 gene mutations in the FMF dis...

2014
Hatice Onur Hale Aral Vefik Arica Gamze Atalay Bercem Ozgur Kasapcopur

BACKGROUND This study aimed to determine whether vitamin D deficiency is more common in children with familial Mediterranean fever (FMF) than in healthy individuals. METHODS The study group consisted of 100 patients diagnosed with FMF and 50 healthy children. Serum baseline 25-hydroxyvitamin D levels and other related parameters were evaluated. RESULTS The mean (standard deviation [SD]) vit...

2014
Kiyoshi Migita Kazunaga Agematsu Masahide Yazaki Fumiaki Nonaka Akinori Nakamura Tomoko Toma Dai Kishida Ritei Uehara Yoshikazu Nakamura Yuka Jiuchi Junya Masumoto Hiroshi Furukawa Hiroaki Ida Chihiro Terai Yoshikazu Nakashima Atsushi Kawakami Tadashi Nakamura Katsumi Eguchi Michio Yasunami Akihiro Yachie

Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by MEditerranean FeVer gene (MEFV) mutations. In Japan, patients with FMF have been previously reported, including a mild or incomplete form. Several factors are presumed to contribute to the variable penetrance and to the phenotypic variability of FMF. We conducted the current study to investigate the correlation of varia...

2013
H Hayrapetyan G Amaryan A Yeghiazaryan T Sarkisian

Results Heterozygote carriers associated with abortive and mild FMF features is 18,72%, and 1.29% of patients with clinical features of FMF are without mutations. In some FMF patients “mild” MEFV mutations are associated with inflammatory attacks (P369S: 0.49%; E148Q: 5.09%; A744S: 0.74%). Genotypes E148Q/A744S and E148Q/P369S are found rarely. We have revealed the complex FMF cases with follow...

Journal: :Blood 2002
John Milledge Peter J Shaw Albert Mansour Sarah Williamson Bruce Bennetts Tony Roscioli Julie Curtin John Christodoulou

We describe data on a 7-year-old girl with congenital dyserythropoietic anemia (CDA), who also had familial Mediterranean fever (FMF). Repeated transfusions required since the age of 6 months to treat her CDA led to iron overload and a persistently high ferritin level. Her relapsing FMF made effective iron chelation therapy very difficult. Consequently, at the age of 4 years, she underwent allo...

2011
Oshrat E. Tayer-Shifman Eldad Ben-Chetrit

Familial Mediterranean fever (FMF) is an autosomal recessive hereditary disease which is characterized by recurrent attacks of fever and peritonitis, pleuritis, arthritis, or erysipelas-like skin disease. As such, FMF is a prototype of autoinflammatory diseases where genetic changes lead to acute inflammatory episodes. Systemic inflammation - in general - may increase procoagulant factors, and ...

Journal: :Revista medica de Chile 2015
Elbis Ahbap Tamer Sakaci Ekrem Kara Tuncay Sahutoglu Semi Ozturk Taner Basturk Yener Koc Mustafa Sevinc Cuneyt Akgol Zuhal Atan Ucar Arzu Ozdemir Kayalar Feyza Bayraktar Caglayan Seyfettin Gurbuz Abdulkadir Unsal

BACKGROUND Cardiac arrhythmias can be a part of cardiovascular involvement in some rheumatic diseases, but data about familial Mediterranean fever (FMF) are conflicting. AIM To search for abnormalities in ventricular repolarization indices in FMF patients. PATIENTS AND METHODS Seventy seven FMF patients and 30 age/gender comparable healthy controls were included. All patients were attack fr...

Objective(s):Familial Mediterranean fever (FMF), an inherited autosomal recessive disorder, is frequently present among individuals of Mediterranean origin. Differences in the clinical manifestations of FMF between different ethnic groups have been documented. The aim of the present study was to determine the most common characteristics of FMF and the relationship between clinical findings and ...

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