نتایج جستجو برای: m694v
تعداد نتایج: 202 فیلتر نتایج به سال:
familial mediterranean fever (fmf) is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen around the mediterranean sea. it is characterized by recurrent episodes of fever and polyserositis and rash. recently, mefv gene analysis determines the definitive diagnosis of fmf. in this study, we analyzed 12 mefv gene mutations in more than 200 fmf patients, pr...
Results The study group comprised 317 FMF patients (170 females, 147 males) with a mean age of 12.2 ± 5.7 years. There were 267 patients (84.3%) in group I and 50 patients (15.7%) in Group II. Median attack frequency before colchicine therapy was 24/year in Group I and 12/year in Group II (p<0,05). Although the frequency of majority of the clinical features did not differ between the groups, fe...
Familial Mediterranean Fever is an autosomal recessive disease. Major symptoms of disease are recurrent fever accompanied by serositis attacks. The disease is usually diagnosed before 20 years of age. Symptoms related to FMF are noted when children become more verbal, usually after 2 years of age. In this case report, the youngest patient with the diagnosis of FMF is presented. She was consulte...
Background Familial Mediterranean fever (FMF) is an inherited inflammatory disorder characterized by attacks of fever with polyserositis. Objective The purpose of this study was to evaluate pediatric patients with FMF who had central nervous system (CNS) findings. Materials and Methods Our medical records database for 2003 to 2014 was screened retrospectively. In total, 104 patients with FMF we...
Familial Mediterranean fever is quite prevalent among Arabs. We reviewed the files of 56 patients diagnosed with familial Mediterranean fever and followed up at King Hussein Medical Centre in Jordan over 4 years for their clinical profile, course, genotype, treatment and complications. There were 30 males and 26 females with a mean age at onset of 5.2 years. Abdominal pain (79%) was the commone...
Background: Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease accompanied by recurrent attacks of and serositis. It prevalent among populations, mainly Turks, Armenians; Jews Arabs. As genetic factors are variable in the population, environmental can also affect phenotypic characteristics. Objectives: This study aimed to determine geographic differences characteristics...
Introduction Familial Mediterranean Fever (FMF) represents an autoinflammatory disease caused be MEFV gene mutation characterized with attacks of polyserositis, commonly seen among Turks, Arabs, Armenians and Jews. Therapy with colchicine was proven to be effective in treatment of FMF polyserositis and in prevention of amyloidosis development. Colchicine resistant FMF is defined as 6 or more at...
BACKGROUND/AIM Sensitive and cost-effective detection of point mutations is important in genetics research. Denaturing high-performance liquid chromatography (DHPLC) is known to be one of the most sensitive techniques for point mutation detection. A more recent technique, high-resolution melting (HRM), is based on the melting behavior of PCR products. In this study, the efficiency and sensitivi...
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