نتایج جستجو برای: hereditary periodic fever syndromes
تعداد نتایج: 337589 فیلتر نتایج به سال:
Behçet's disease and hereditary periodic fever syndromes: casual association or causal relationship?
OBJECTIVE Mutations in the MEFV and the type 1 TNF receptor (TNFRSF 1A) genes have recently been linked to familial Mediterranean fever (FMF) and TNF receptor-associated periodic syndrome (TRAPS), respectively. A higher prevalence of Behçet's disease (BD) among FMF patients has been described compared to the general population. The aim of this study was to evaluate whether FMF TRAPS and BD coul...
OBJECTIVE To identify a set of clinical parameters that can predict the probability of carrying mutations in one of the genes associated with hereditary autoinflammatory syndromes. METHODS A total of 228 consecutive patients with a clinical history of periodic fever were screened for mutations in the MVK, TNFRSF1A, and MEFV genes, and detailed clinical information was collected. A diagnostic ...
Patients and methods Data from patients with genetically proven FMF, TRAPS and CAPS, who were recorded in the National Paediatric Rheumatologic Database (NPRD) in the years from 2004 to 2013 were used for this analysis. Temporal changes in patient-reported outcomes (e.g., overall wellbeing [NRS 0-10], pain [NRS 0-10], functional capacity [CHAQ], school attendance) and anti-inflammatory medicati...
Periodic fever syndromes (PFSs) are a wide group of autoinflammatory diseases. Due to some clinical overlap between different PFSs, differential diagnosis can be a difficult challenge. Nowadays, there are no universally agreed recommendations for most PFSs, and near half of patients may remain without a genetic diagnosis even after performing multiple-gene analyses. Molecular analysis of period...
Familial Mediterranean Fever (FMF) is the most frequent periodic febrile syndrome among the autoinflammatory syndromes (AS), nowadays considered as innate immunity disorders, characterized by absence of autoantibodies and autoreactive T lymphocytes. FMF is a hereditary autosomal recessive disorder, characterized by recurrent, self-limiting episodes of short duration (mean 24e72 h) of fever and ...
BACKGROUND The hyperimmunoglobulinaemia D and periodic fever syndrome is a hereditary periodic fever, caused by deficiency of the enzyme mevalonate kinase. It is unclear how this defect leads to recurrent fever episodes. AIM To assess the involvement of cysteinyl leukotrienes in the pathogenesis of fever attacks as reflected by urinary leukotriene E(4) (LTE(4)) excretion. METHODS Urinary LT...
A familial periodic fever syndromes were described and identified in the latter half of the twentieth century, there have been descriptions of periodic fever since antiquity. In this short historical study, these milestones are briefly described starting with Galen and ending with the characterisation of the Mediterranean FeVer (MEFV) gene towards the end of the twentieth century, and the eluci...
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