نتایج جستجو برای: mefv gene mutations
تعداد نتایج: 1225908 فیلتر نتایج به سال:
Familial Mediterranean Fever (FMF) is a systemic auto-inflammatory disease characterized by recurrent episodes of fever accompanied by synovial, serosal and/or cutaneous inflammation. Liver involvement has been described mainly in patients with paired FMF gene mutations, i.e. involving both alleles, and rarely in patients heterozygous for FMF mutations. These patients may present with acute or ...
Methods 86 patients who underwent cardiac surgery were studied, 45 of whom developed PPS (study group) and 41 have not (control group). Demographic data (gender, age, region of residence, ethnic origin) and type of surgery were collected. The severity of PPS was evaluated, based on a predefined scale. Genetic analysis determining carriage of one of the three most common MEFV gene mutations (M69...
Introduction The inflammasome complex and the inflammatory pathway have been implicated in the pathogenesis of familial Mediterranean fever (FMF), and recently ASC (apoptosis-associated speck-like protein containing a CARD) mRNA expression was found to be up-regulated in patients carrying MEFV mutations independent of the mutation type. Gene-expression profiling has the capacity to reveal trans...
Introduction Familial Mediterranean fever (FMF) is an autosomal recessive disease associated with a number of mutations of the MEFV gene. To date 246 variants responsible for the disease were identified, one such a variant is E148Q in exon 2. The role of E148Q variant in the development of FMF remains inconclusive. Some authors believe it causes the disease, whereas others favor the concept of ...
Introduction Familial Mediterranean Fever (FMF) is the most common hereditary autoinflammatory syndrome affecting >10,000 people in Israel. FMF is caused by mutations in the MEFV gene, which encodes for the pyrin protein that is part of the inflammation complex that activates IL-1b. Evidence from case reports/series and one controlled study supports IL-1 blockage as a potential treatment for FM...
Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent febrile polyserositis and arthritis. Although accompanying seronegative spondyloarthropathy has been reported in FMF, coexistence with rheumatoid arthritis (RA) is very rare. This case report describes a Japanese female RA patient who presented with periodic fever. Genetic analysis revealed compound he...
INTRODUCTION Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent self-limiting fever and serositis that mainly affects Mediterranean populations. Many patients with FMF have been reported in Japan due to increasing recognition of this condition and the availability of genetic analysis for the gene responsible, MEFV. The present study was perfor...
A 54-year-old Japanese man presented with recurrent abdominal pain, fever lasting >5 days, and renal failure. AA amyloidosis was proven by renal and gastric biopsy. Symptoms subsided with the administration of colchicine, but a subsequent recurrence of symptoms did not respond to colchicine. Mediterranean fever gene (MEFV) analysis showed that he was heterozygous for mutations in exon 2 (E148Q/...
Introduction Familial Mediterranean fever (FMF) is the most common of the hereditary autoinflammatory disorders. FMF is caused by mutations of MEFV gene which encodes for pyrin. It has been recently reported that frequency of FMF-like symptoms decreases from patients carrying two high penetrance mutations towards patients with a single low penetrance mutation. The effectiveness of interleukin (...
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