نتایج جستجو برای: r202q
تعداد نتایج: 28 فیلتر نتایج به سال:
OBJECTIVES We investigated whether polymorphisms (SNPs) in the promoter region of TNFA, or in the autoinflammatory TNFRSF1A and MEFV genes, concur with HLA-B27 in enhancing the risk of Spondyloarthritis (SpA) and/or in predicting the response to anti-TNFα treatment. METHODS 373 controls and 137 SpA (82 with Psoriatic Arthritis-PsA and 55 with Ankylosing Spondylitis- AS; 98/137 under TNFα inhi...
Case A patient with juvenile onset recurrent febrile attacks associated with familial polyarteritis nodosa (PAN) and who carries CECR1 and MEFVgene mutations is described. The index case, a 23 year old male patient with recurrent attacks of fever and arthritis since the age of 7 was diagnosed initially as Familial Mediterranean Fever (FMF). A beneficial response to treatment with colchicine was...
The neurological disorder familial hemiplegic migraine type II (FHM2) is caused by mutations in the α2-isoform of the Na(+),K(+)-ATPase. We have studied the partial reaction steps of the Na(+),K(+)-pump cycle in nine FHM2 mutants retaining overall activity at a level still compatible with cell growth. Although it is believed that the pathophysiology of FHM2 results from reduced extracellular K(...
BACKGROUND The aim of this study was to evaluate the clinical manifestations and prevalence of familial Mediterranean fever (FMF) in Japanese patients with unexplained fever and rheumatic manifestations. METHODS We enrolled 601 patients with unexplained fever or suspected FMF throughout Japan between 2009 and 2015. Patients were divided into three groups according to Tel Hashomer criteria: su...
AIM Familial Mediterranean fever (FMF) and inflammatory bowel disease (IBD) carry similar clinical and biological properties. Both are characterized with chronic inflammation attacks and neutrophil migration and impaired apoptosis mechanism are present in the areas of damage in both conditions. In our study, we aimed to determine the frequency of association of FMF in patients with IBD, to comp...
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...
Background Familial Mediterranean Fever (FMF) is an autoinflammatory disease characterized by recurrent episodes of fever and serositis. Although it known that the attack frequency differs among patients carrying different mutant genotypes [1], whether physical environmental factors play a role in triggering attacks or they have influence on timing remains to be elucidated. Objectives We aimed ...
In this issue of Brain Thomsen and colleagues present data representing several important developments in the field of familial hemiplegic migraine (FHM) with their investigation of the genetic spectrum and prevalence of this disorder (Thomsen et al., 2006). The authors have performed the first population-based sampling strategy to obtain complete case ascertainment of this rare disease (Lykke ...
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