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Laysa Toschi Martins Henrique Ravanhol Frigeri Caio Cesar Silva de Castro Marcelo Távora Mira 《Experimental dermatology》2020,29(6):535-538
The aetiology of vitiligo has not been fully elucidated, and several hypotheses have been investigated; among them, the most explored assumes an autoimmune basis for the disease. Supporting this hypothesis is the frequent co-occurrence of autoimmune diseases with vitiligo. In addition, various genetic loci associated with vitiligo harbour key immune response genes. Our general hypothesis is that autoimmunity-associated genes participate in the control of vitiligo susceptibility. To investigate this hypothesis, we tested for association between vitiligo and genes CYP27B1, REL, TNFAIP3 and IL2/IL21, all previously related to autoimmune diseases associated with vitiligo. The study was performed using two independent population samples: a family-based discovery set (211 trios) and a replication set (131 cases/119 controls). Statistically significant association with vitiligo was detected between markers of the REL and IL2 gene in the family-based sample. Both association signals were concentrated among patients displaying autoimmune comorbidity and non-segmental vitiligo. Evidence for validation was detected for IL2 marker. Our findings suggest REL and IL2 as new vitiligo susceptibility genes and reinforce the hypothesis of a shared genetic mechanism controlling vitiligo and other autoimmune diseases. 相似文献
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Mariana Spitz Alexandre Aluízio Costa Machado Rodrigo do Carmo Carvalho Fernanda Martins Maia Monica Santoro Haddad Dagoberto Calegaro Milberto Scaff Egberto Reis Barbosa 《Movement disorders》2006,21(9):1520-1522
We report on 3 patients with pseudoathetosis, which are involuntary, slow, writhing movements due to loss of proprioception. 相似文献
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A case of testicular cancer in 2 brothers is reported and a review of the literature about testicular malignancies and etiologic factors in closely related family members is given. The familial incidence of testicular tumor is found to be 3% in twins and 0.6-2.1% in less closely related men. Tumors were of the same histology in 70-77% of the twins, whereas in brothers and in other degrees of relationship tumors of different histology mostly occur. Following the diagnosis of the tumor in the first man, the average interval to presentation of the tumor in the relative was 3.7 years in twins, 7.7 years in nontwin brothers and 13.5 years for less closely related men. The need for a thorough checkup of other family members is advised. 相似文献
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Milena Soares Santos Guilherme de Sousa Ribeiro Tainara Queiroz Oliveira Renan Cardoso Nery Santos Edilane Gouveia Kátia Salgado Daniele Takahashi Cleuber Fontes Leila Carvalho Campos Mitermayer Galvão Reis Albert Icksang Ko Joice Neves Reis 《International journal of infectious diseases》2009,13(4):456-461
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