نتایج جستجو برای: mefv mutation
تعداد نتایج: 292011 فیلتر نتایج به سال:
Introduction Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among individuals of Mediterranean descent, caused by MEditerranean FeVer gene (MEFV) mutations on the chromosome 16. It is the most frequent periodic febrile syndrome among autoinflammatory syndromes. Eighty % of patients with FMF have MEFV mutations, while aro...
References 1. The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997;17:25–31. 2. The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997;90:797–807. 3. Cazeneuve C, Sarkisian T, Pecheux C, Dervichian M, Nedelec B, Reinert P, et al. MEFV-gene analysis i...
Lung function responses to inhaled cotton dust were evaluated in a group of 58 healthy subjects by spirometry (MEFV curves) and forced random noise impedance parameters. Twenty-one of these subjects were also examined by body plethysmography to assess changes in airway resistance (Raw). For the study group as a whole, alterations in lung mechanical function after exposure to cotton dust were de...
BACKGROUND AND AIMS The familial Mediterranean fever (FMF) gene (MEFV) encodes pyrin, a major regulator of the inflammasome platform controlling caspase-1 activation and IL-1beta processing. Pyrin has been shown to interact with the gene product of NLRP3, NALP3/cryopyrin, also an important active member of the inflammasome. The NLRP3 region was recently reported to be associated with Crohn's di...
Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among individuals of Mediterranean descent, caused by MEditerranean FeVer gene (MEFV) mutations on chromosome 16. It is the most frequent periodic febrile syndrome among the autoinflammatory syndromes. Clinically, FMF can be distinguished into three phenotypes: type 1, which...
Results A total amount of 50 patients (22 girls, 28 boys) were included. The median age of the patients was 8.5 years (2.5-17.5). 78% of the patients suffered from fever attacks suggestive of FMF every 1-4 weeks. The attack interval of the remaining patients was more than one month. At the time of admission, the median values for ESR and CRP were; 24.5 mm/hr (1-100) and 2 mg/dl (0-31), respecti...
Methods We describe a patient initially evaluated at 10 months of age for gross developmental delay, failure to thrive, splenomegaly, and microcytic anemia. Physical exam was significant for weight <3rd percentile, splenomegaly (down 5cm), and head lag. Initial laboratories revealed microcytic anemia (hemoglobin 8.7 g/dL); elevated platelets 499 K/uL, C-reactive protein 23.2 mg/dL (<0.2) and er...
A 35-year-old man had a 2-year history of uveitis and arterial wall thickening of an aortic branching artery detected by magnetic resonance imaging. He was admitted to our hospital because of mental exaltation. He had been treated with a moderate dose of prednisolone (30 mg/ml) plus methotrexate (6 mg/week) under the diagnosis of Takayasu arteritis for 2 years. Neurological examinations and b...
Results Within our cohort of 160 adult patients with FMF, we identified 15 patients (4 female and 11 male) who were treated with anakinra (n=13) or canakinumab (n=2). Twelve of 15 patients (80%) were of turkish-armenian ancestry. The median FMF severity score was 8 (range 5-14). Patients carrying two high-penetrance MEFV mutations (M694V or M680I) had a severity score of 9 (8/15=53%). Patients ...
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