P01-037 – Genetic analysis practice prior to FMF diagnosis

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منابع مشابه

P01-037 – Genetic analysis practice prior to FMF diagnosis

Results At colchicine prescription, genetic results were not available for 229/681 patients (34%). A typical phenotype was significantly more common in this subgroup than in patients with genetic testing at prescription (212/229, 92%, vs. 260/452, 58%, OR=9.2 95% CI 5.4-15.6, p=0.0001). Of note, despite the high frequency of typical phenotype in this group, the rate of 2 pathogenic variants of ...

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P01-018 – An earliest diagnosis of FMF

Introduction Familial Mediterranean fever (FMF) is an autosomal recessive disease, mainly affecting Jews, Armenians, Turks, Arabs and other groups living around Mediterranean basin. Major symptoms of disease are recurrent periodic fever accompanied by serositis. The disease is usually diagnosed at ages less than 20 years. Onset of the disease at older age can rarely occur. Symptoms related to F...

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P01-032 – Characterization of genetic-negative FMF

Methods In this observational comparative study, 47 sequential genetic negative FMF patients and 78 sequential genetic positive (for at least one allele) FMF control patients were compared using a comprehensive questionnaire completed at the time of their routine clinic visit, using direct questioning and patients’ files. The definition of FMF was based on our clinical tool, widely accepted for...

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P01-043 – Comparative characteristic of FMF and FMF with HSP

Methods Clinical studies conducted in 61 non complicated of amyloidosis FMF children in the Republican FMF Children Center, Center “Arabkir”. The age of the patients varies from 5-15. Three patients of FMF are accompanied with HSP. We are selected as a control group of 11 healthy people in practice.Biochemical studies carried out in Hematological Center of Armenia. In erythrocytes of membrane w...

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P01-031 – Anakinra for colchicine resistant FMF

Methods We plan to include patients, agreeing with clinical and genetic diagnosis of FMF, who suffer from FMF attacks, at least once per month, in one of the sites commonly involved by FMF (Chest, abdomen, lower extremity large joints, and skin), despite treatment with colchicine 2 mg/ day or less (in case of colchicine intolerance). Involvement with other diseases relevant (vasculitis, spondyl...

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ژورنال

عنوان ژورنال: Pediatric Rheumatology

سال: 2013

ISSN: 1546-0096

DOI: 10.1186/1546-0096-11-s1-a41