نتایج جستجو برای: m694v
تعداد نتایج: 202 فیلتر نتایج به سال:
Results In 14 of the 26 patients, FMF and amyloidosis were diagnosed at the same time with a mean delay in diagnosis of 22 ±9.2 years. In the remaining 12, there was a mean delay of 9.6±8 years from the onset to the diagnosis of FMF and 23±9.6 years from the onset to the diagnosis of amyloidosis. These patients were on colchicine for a mean of 13±7.6 years after the diagnosis of FMF. Eight were...
Familial Mediterranean fever (FMF) is an autosomal recessive disorder primarily affecting the Mediterranean populations. It is characterized by recurrent attacks of fever and inflammation of serosal membranes and gradual development of nephropathic amyloidosis. More than 70 disease-associated mutations have been identified in the Mediterranean fever gene (MEFV) responsible for FMF. The aim of t...
Background Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder caused by mutations in the MEFV gene. The disease is especially common among Mediterranean ancestry, mostly Armenian, Turkish, Jewish and Arab populations. We aimed to describe genotype pattern of FMF in the Jordanian children and to compare it with other populations. Materials and Methods A retros...
Background: Familial Mediterranean fever (FMF) is an autosomal recessive genetic disorder characterized by recurrent episodes of self-limited fever and serosal tissues inflammation. Methods: To evaluate clinical symptoms and common genetic mutations in southwestern Iranian patients with FMF, 20 unrelated patients were enrolled in this study based on clinical criteria. A panel of 12 common ME...
Background and objectives: Behcet's Disease (BD) is a rare severe recurrent inflammatory disorder affecting several body organs. Since Familial Mediterranean Fever (FMF) and BD affect almost a specific population, both diseases can mimic the other clinically, and these two diseases sometimes occur in the same family and the same patient, also due to the high prevalence of BD in Iran and perform...
Familial Mediterranean Fever (FMF) is classified as an autoinflammatory genetic disease inherited by mutations in <em>MEFV</em>. These can affect the dysregulation of inflammatory processes human body and lead to fever pain chest abdomen. Many known missense <em>MEFV</em> are linked FMF disease. Mutations most cases located on short arm chromosome 16 impair function pyri...
background: familial mediterranean fever (fmf) is an autosomal recessive genetic disorder characterized by recurrent episodes of self-limited fever and serosal tissues inflammation. methods: to evaluate clinical symptoms and common genetic mutations in southwestern iranian patients with fmf, 20 unrelated patients were enrolled in this study based on clinical criteria. a panel of 12 common mefv ...
Objectives A 14 year-old girl was admitted to the hospital with the complaints of fever, fatique and weight loss of 12 kg in 2 months duration. She had been prescribed different antibitiocis for fever. Her laboratory work-up was as follows; Hb. 7.4 gr/dl, Hct 23%, Wbc 6000/mm, Plt 231000/mm, ESR: 112 mm/hr, C-reactive protein: 52 mg/l, differential count and bone marrow aspiration was normal. V...
BACKGROUND Familial Mediterranean fever (FMF) is an autosomal-recessive inherited inflammatory disease caused by mutations in the MEFV gene that encodes pyrin/marenostrin. It is characterized by recurrent short episodes of fever, abdominal pain and serositis affecting mainly Mediterranean and Middle Eastern populations. We determined the frequency of the compound heterozygous mutations which ha...
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