نتایج جستجو برای: ژن mefv
تعداد نتایج: 16785 فیلتر نتایج به سال:
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 distribution of MEFV mutations in Irani...
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...
used test for serial distribution of airway obstruction [2] and in Background: A recent review in silica dust exposed diagnosing chronic obstructive workers focused on airway obstruction and the variables disease in surveys of air pollution used were forced vital capacity (FVC), FEV1 and FEV1%. etc. Tests of peak flow (PEF), MEFR Original Article Nellore Mohan Rao, Ramnath Takiar, Yashwant K. S...
Results 12 patients with idiopathic uveitis were enrolled in this study. 10 of them were female and 2 were male. The youngest patient was a 7-year-old child and the oldest was 57. The most common complaints of patients was blurred vision and then eye redness. One patient was heterozygous for Wt/R761H in the MEFV genetic analyses. Genetic analysis of 12 most common MEFV mutations in the patients...
The aim of this study is the investigation of one mutation carriers of MEFV gene among Armenian population. We designed and established the genetic register for proper collection of patients’ data including their ethnicity, clinical and laboratory data, as well as family cases. According to the results the frequency of FMF inheritance with only one mutation of MEFV gene among Armenian populatio...
Background: Systemic-onset Juvenile Idiopathic Arthritis (SoJIA) is an autoinflammatory disease with complex genetic trait starts in children less than 16 years of age with fever and cutaneous rash. Despite, the main genetic factors that may play a role in SoJIA have not yet been identified. High level of interleukin-1beta in the blood of SoJIA patients has been reported. The production and sec...
Background : Familial Mediterranean fever (FMF) is an autosomal recessive disease, which is characterized by recurrent short episodes of inflammation in serous membranes. It is most prevalent in Western Mediterranean population. MEFV is the only gene currently known to be associated with this disease. Previous studies revealed that 6% of Iranian Jewish residents in Israel were carriers of MEFV ...
Methods We collected clinical and laboratory data from periodic fever patients followed at our center from the beginning of 2006 to the end of 2012. Results of genetic testing for MEFV gene mutations were also collected. Genetic testing was performed in Genetic laboratory of University Children’s Hospital Ljubljana. All 10 exons and exon/ intron regions of MEFV gene were directly sequenced with...
Familial Mediterranean fever (FMF), the most frequent of the periodic fever syndromes, is an auto-somal recessive disease, predominantly affecting people of Mediterranean descent, although recently it has been described in many other populations (1-3). Linkage between the gene responsible for FMF (MEFV) and the short arm of chromosome 16 was first shown in 1992. Mediterranean Fever (MEFV) gene ...
The first major advance in understanding expiratory flow limitation of the lungs came with the description of isovolume pressure-flow curves. These curves documented the existence of a volume-dependent limit to maximal expiratory flow and led directly to the description of the maximal expiratory flow-volume (MEFV) curve. Definitive modeling of flow limitation awaited the description of a locali...
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