نتایج جستجو برای: ژن mefv
تعداد نتایج: 16785 فیلتر نتایج به سال:
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...
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. ...
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 ...
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...
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...
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 (...
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...
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...
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 suer 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...
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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