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Luca Cantarini Orso Maria Lucherini Rolando Cimaz Donato Rigante Cosima Tatiana Baldari Franco Laghi Pasini Mauro Galeazzi 《Rheumatology international》2012,32(12):4015-4018
Tumor necrosis factor receptor-1?Cassociated periodic syndrome (TRAPS) is the most common autosomal dominant autoinflammatory disorder and is caused by mutations in the TNFRSF1A gene encoding the 55-kDa receptor for tumor necrosis factor (TNF)-??. TRAPS is characterized by recurrent attacks of fever, typically lasting from 1 to 3?weeks. In addition to fever, common clinical features include periorbital edema, a migratory erythematous plaque simulating erysipela with underlying myalgia, and arthralgia or arthritis. Serosal membrane inflammation is also a common feature, usually in the form of polyserositis. To date, at least 40 different TNFRSF1A mutations have been identified, but few patients with symptoms highly suggestive of TRAPS with no mutations in the TNFRSF1A gene have recently been described, thus suggesting that not all mutations are yet known or that alternative mechanisms might be involved in the pathogenesis of the disease. We report on three such patients here. 相似文献
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De Nicola S Aghemo A Rumi MG Galmozzi E Valenti L Soffredini R De Francesco R Prati GM D'Ambrosio R Cheroni C Donato MF Colombo M 《Hepatology (Baltimore, Md.)》2012,55(2):336-342
Single nucleotide polymorphisms (SNPs) near the interleukin 28B (IL28B) region are the strongest baseline predictors of a sustained virologic response (SVR) to peg-interferon (PegIFN) and ribavirin (Rbv) in patients with hepatitis C virus (HCV) genotype 1 infection. Whether this holds true for HCV-4 patients too is unknown. The aim was to investigate the predictive power of the rs12979860 IL28B SNP for a response to Peg-IFN and Rbv in HCV-4 patients. All HCV-4 patients consecutively treated between September 2004 and June 2010 with PegIFN and Rbv at two liver centers at the Maggiore Hospital Milan (Italy) underwent TaqMan SNP Genotyping assays for testing rs12979860 genotype. Of 112 treated patients (98 males, 75 of Egyptian descent, 26 with cirrhosis) 103 were included in the final analysis; five discontinued treatment for nonvirologic reasons and four did not consent to genetic testing. Twenty-four (23%) were genotype CC, 65 (63%) CT, and 14 (14%) TT. Overall, 50 (49%) achieved an SVR: 21 (88%) CC patients versus 29 (37%) CT/TT (P < 0.0001). CC patients more often had a rapid virologic response (RVR) than CT/TT patients (12, 50% versus 23, 29%; P = 0.08), while also showing lower relapse rates (0% [0/21] versus 36% [16/45] P = 0.0013). In non-RVR patients, SVR rates were higher in CC than CT/TT patients (9 [75%] versus 13 [23%] P = 0.001). By logistic regression, the IL28B rs12979860 CC genotype was an independent predictor of SVR with an odds ratio of 8.0 (95% confidence interval 2.00-32.01; P = 0.003). CONCLUSION: The IL28B rs12979860 SNP may have an added value in the treatment algorithm of HCV-4 patients because it is the strongest predictor of an SVR to PegIFN/Rbv therapy. 相似文献
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A 2010 US report recently detected the presence of levamisole in greater than 77 % of seized cocaine samples. A syndrome of retiform purpura, often involving ears and flanks, with vasculopathy or vasculitis on biopsy, associated with anti-nuclear cytoplasmic antibodies as well as antiphospholipid antibodies, previously associated with therapeutic use of levamisole has now re-emerged, and is associated with cocaine adulterated with levamisole. Patients with this unusual constellation of signs and laboratory findings should be questioned about exposure to cocaine. 相似文献
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