نتایج جستجو برای: mefv genotype
تعداد نتایج: 92495 فیلتر نتایج به سال:
F amilial Mediterranean fever (FMF) is an autosomal recessive disorder characterised by recurrent episodes of fever and serosal inflammation, which is common in Armenian, Turkish, Arab, and Sephardic Jewish populations. For many years, its diagnosis was one of exclusion, based solely on clinical criteria. However, this difficult situation was changed in 1997 by the identification of the causati...
BACKGROUND/AIMS Chronic arthritis of familial Mediterranean fever (FMF) involves weight-bearing joints and can occur in patients without a history of acute attack. Our aim was to investigate a possible causal relationship between FMF and osteoarthritis in a population in which FMF is quite common. METHODS Patients with late stage primary osteoarthritis were enrolled, and five MEFV gene mutati...
PURPOSE Airway pathology in children with atopic asthma can be reflected by the concave shape of the maximal expiratory flow-volume (MEFV) curve and high fractional exhaled nitric oxide (FeNO) values. We evaluated the capacity of the curvilinearity of the MEFV curve, FeNO, and their combination to distinguish subjects with atopic asthma from healthy individuals. METHODS FeNO and angle β, whic...
BACKGROUND The pathogenesis of PFAPA (periodic fever, aphthous stomatitis, pharyngitis, adenitis) syndrome is unknown as yet. In order to understand whether genes implicated in other auto-inflammatory diseases might be involved in the pathogenesis of PFAPA, all variants in the genes causing familial Mediterranean fever (FMF), tumor necrosis factor (TNF) receptor-associated periodic syndrome (TR...
Objective and Importance. Cyclic neutropenia (CyN) is a rare autosomal dominant inherited disorder due to the mutation ELANE primarily affecting bone marrow stem cells and is characterized by recurrent neutropenia every 2 to 4 weeks. Symptoms vary from benign to severe, including death. Postulations on the cause of wide spectrum in symptom presentation include the possibility of other genetic m...
Familial Mediterranean fever is a recessive autoinflammatory disease that is frequent in Armenians, Jews, Arabs, and Turks. The MEFV gene is responsible for this disease. We looked for MEFV gene variations (polymorphism and mutations) in a population that resides in Central Anatolia, Turkey. DNA was extracted from peripheral blood leukocytes of 802 familial Mediterranean fever patients. Th...
BACKGROUND HLA-DRB1 alleles are major determinants of genetic predisposition to rheumatic diseases. We assessed whether DRB1 alleles are associated with susceptibility to particular clinical features of adult onset Still's disease (AOSD) in a Japanese population by determining the DRB1 allele distributions. METHODS DRB1 genotyping of 96 patients with AOSD and 1,026 healthy controls was perfor...
Fabry disease (FD) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever (FMF). We examined the Mediterranean fever (MEFV) and α-galactosidase A (GLA) genes, whose mutations are responsible for FMF and FD, respectively, in 42 unrelated patients diagnosed with FMF, which revealed significant am...
OBJECTIVE Marshall Syndrome or PFAPA is an inflammatory periodic disease characterized by periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis. Although PFAPA is an auto inflammatory disease, it doesn't have genetic basis such as other periodic fevers. This study evaluates the 12 common MEFV gene mutations in patients with PFAPA syndrome. METHODS 21 patients with PFAPA syndr...
The data from a longitudinal population study in Tucson, Arizona, were used to describe the development and decline of maximal expiratory flow-volume (MEFV) measures with age. On the basis of their answers to self-administered questionnaires, in 9 of the first 10 surveys (1972-1988) and having performed at least one MEFV test, 930 nonsmoking healthy subjects were selected, providing 3,848 indiv...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید