نتایج جستجو برای: ژن mefv

تعداد نتایج: 16785  

Journal: :Arthritis and Rheumatism 2008
T G Day A V Ramanan A Hinks R Lamb J Packham C Wise M Punaro R P Donn

OBJECTIVE To investigate the association of NLRP3, NOD2, MEFV, and PSTPIP1, genes that cause 4 of the autoinflammatory hereditary periodic fever syndromes (HPFS), with juvenile idiopathic arthritis (JIA). METHODS Fifty-one single-nucleotide polymorphisms (SNPs) across the 4 loci were investigated using MassArray genotyping in 950 Caucasian patients with JIA living in the UK and 728 ethnically...

ژورنال: :مجله دانشگاه علوم پزشکی زنجان 0
سینا میرزااحمدی s mirza-ahmadi صفر فرج نیا s farajnia ماندانا رفیعی m rafii محمد حسین صومی mh soumi آیلار نخلبند a nakhlband هانیه رضایی h rezaii لیلا محمدنژاد

چکیده سابقه و هدف: تب مدیترانه ای فامیلی (fmf) یک بیماری ژنتیکی اتوزومی مغلوب است که با حملات دوره ای تب دار که با دردهای شدید شکمی، التهاب ریه، آرتریت و راش های پوستی همراه می گردد، مشخص می شود. شدت علایم بالینی این بیماری در بیماران مختلف بسیار متغیر بوده اما اطلاعات کمی در مورد علت اصلی این تفاوت ها وجود دارد. این مطالعه به بررسی ژنتیکی یک بیمار آذری مبتلا به fmf شدید و والدین او می پردازد. ...

2013
Leila Mohammadnejad Safar Farajnia

OBJECTIVE Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent febrile attacks accompanied by serosal and synovial membrane inflammation. FMF is caused by mutations in the MEFV gene and are found usually among Mediterranean populations, Armenians, Turks, Arabs and Jews. The aim of this study was to determine the frequency of MEFV gene mutations among ...

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...

Journal: :Annals of the rheumatic diseases 2001
D C Poland J P Drenth E Rabinovitz A Livneh J Bijzet B van het Hof W van Dijk

BACKGROUND Familial Mediterranean fever (FMF) is a periodic febrile disorder, characterised by fever and serositis. The acute phase response during attacks of FMF results from the release of cytokines, which in turn induce increased expression and changed glycosylation of acute phase proteins. A recent study indicated that attacks in FMF are accompanied by a rise of plasma concentrations of ser...

Journal: :The European respiratory journal 2001
H G Arets H J Brackel C K van der Ent

The aim of this study was to evaluate the applicability of American Thoracic Society and European Respiratory Society criteria for spirometry in children. Maximal expiratory flow/volume (MEFV) measurements from 446 school-age children, experienced in performing MEFV manoeuvres, were studied and acceptability (start-of-test (backward extrapolated volume as a percentage of forced vital capacity (...

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...

Journal: :The European Research Journal 2022

Objectives: This study aims to investigate the effect of vascular endothelial growth factor (VEGF) gene 936C/T polymorphism (rs3025039) on appearance phenotypic characteristics familial Mediterranean fever (FMF) patients that differ with respect MEditerranean FeVer (MEFV) mutations. Here, we investigated a single functional in VEGF gene. Methods: The group consisted 223 FMF definite diagnosis a...

1998
Adam G. Polak

The maximum expiratory ̄ow±volume (MEFV) curve is a sensitive test of respiratory mechanics. Several mathematical models for forced expiration have been developed, but they su€er from various shortcomings. It is impossible to calculate the parts of the MEFV curve beyond the ̄ow limiting conditions and computational algorithms do not allow a direct calculation of maximal ̄ow. In the present work...

Journal: :JAMA dermatology 2014
María Leiva-Salinas Isabel Betlloch María Paloma Arribas Laura Francés Jose Carlos Pascual

Neutrophilic Lobular Panniculitis as an Expression of aWidened Spectrumof Familial Mediterranean Fever Familial Mediterranean fever (FMF) is considered to be an autosomal recessive disease, though it is controversial.1-3 The marenostrin-encoding fever gene (MEFV) is responsible for FMF. The most frequent mutation is M694V, which represents a genetic risk factor for development of amyloidosis1 a...

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