نتایج جستجو برای: hereditary periodic fever syndromes
تعداد نتایج: 337589 فیلتر نتایج به سال:
PURPOSE Obtaining a detailed family history through detailed pedigree is essential in recognizing hereditary colorectal cancer (CRC) syndromes. This study was performed to assess the current knowledge and practice patterns of surgery residents regarding familial risk of CRC. METHODS A questionnaire survey was performed to evaluate the knowledge and the level of recognition for analyses of fam...
Cryopyrin-associated periodic syndrome (CAPS) is a group of rare hereditary autoinflammatory diseases caused by mutations of the NLRP3 gene, and leads to excessive production of the proinflammatory cytokine, interleukin-lβ. A 35-year-old male presented with recurrent symptoms of urticarial-like rash, periodic fever, arthralgia, headache, and eye redness. His best-corrected visual acuity was 1.0...
Over the last 10 years 25 different hereditary cancer syndromes have been identified and attributed to specific germline mutations in various inherited cancer genes. Though hereditary cancer syndromes are rare, their investigation has begun to provide unprecedented insights into the molecular origin and pathogenesis of various forms of cancer [3]. With the cloning of cancer-predisposing genes i...
OBJECTIVE The aim of this paper is to report the first case of drug-induced eosinophilic myocarditis (EM) in a patient with hereditary periodic fever syndrome (PFS). CASE A 28-year-old man with hyper-IgD syndrome, one of the PFS, developed a sulfasalazine-induced systemic hypersensitivity reaction complicated by EM. Thirteen days after sulfasalazine introduction, which had been given for arth...
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