نتایج جستجو برای: mefv genotype
تعداد نتایج: 92495 فیلتر نتایج به سال:
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...
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...
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...
Familial Mediterranean Fever (FMF) is an autosomal recessive disease (MEFV gene) characterized by recurrent fever and inflammatory serositis. Although majority of patients have random pattern of attacks, some reports described precipitating factors. A literature review indicated that FMF attacks occurring only during menstruation are rarely seen. We report the cases of three patients with sever...
Familial Mediterranean fever (FMF) is the most common Mendelian autoinflammatory disease, characterized by uncontrolled activation of the innate immune system that manifests as recurrent brief fever and polyserositis (e.g., peritonitis, pleuritic, and arthritis). FMF is caused by autosomal recessive mutations of the Mediterranean fever gene, MEFV which encodes the pyrin protein. Although FMF pr...
In their otherwise excellent review of familial Mediterranean fever (FMF), Lidar and Livneh argue against testing for Mediterranean fever gene (MEFV) mutations both in their diagnostic algorithm and in their subsequent discussion of the case. Although the clinical criteria for FMF are highly sensitive and specific, incorporation of genetic testing will not only confirm the diagnosis but adds va...
Familial Mediterranean fever (FMF) is characterized by repeated episodes of fever, peritonitis, pleuritis, and synovitis. We describe here 3 Japanese patients (a mother and 2 children) in whom FMF was diagnosed on analysis of MEFV. A 40-year-old woman presented with fever and abdominal pain. The patient had had these symptoms on and off since childhood and consulted many hospitals. A 38-year-ol...
The last two years have been marked by many studies trying to better characterize the clinical features of FMF in children and proposal of new treatment for those who are resistant to colchicine. In addition, many studies tried to address the potential effect of genetic modifiers on FMF and the potential effect of MEFV mutations on other inflammatory diseases. The main points arose from these s...
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