ATYPICAL REVERSE REACTION IN A MULTIBACILLARY PATIENT

A hanseníase é uma doença infectocontagiosa causada pelo Mycobacterium leprae que atinge preferen- cialmente pele e/ou nervos periféricos. Pode apresentar períodos de agudização denominados reações. Os dois tipos de reações hansênicas, tipo1 ou reversa e tipo 2 ou eritema nodoso, refletem o processo inflamatório imunomediado, envolvendo distintos mecanismos de hipersensibilidade. A reação tipo 1 corresponde a um súbito aumento da imuni- dade mediada por células sendo mais comum nas formas paucibacilares da doença e a reação tipo 2 é reconhecida como alteração na imunidade humoral, sendo mais comum nas formas multibacilares. O presente artigo tem o objetivo de demonstrar um caso de reação reversa, ou seja, tipo 1 em um paciente compro- vadamente multibacilar. PALAVRAS-CHAVE – Lepra; Mycobacterium leprae. Leprosy is an infectious disease caused by Mycobacterium leprae that primarily affects the skin and/or peripheral nerves. It can have periods of acute reactions known as type 1 or reverse and type 2 or erythema nodosum. These reactions reflect the immune-mediated inflammatory process involving different mechanisms of hypersensitivity. The type 1 reaction corresponds to a sudden increase in cell-mediated immunity is more common in paucibacillary forms of the disease and type 2 reaction is recognized as changes in humoral immunity, is more common in multibacillary. This article aims to demonstrate a case of reverse reaction in a multibacillary patient. KEYWORDS – Leprosy, multibacillary; Mycobacterium leprae.

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10-8, HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10-8, HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4×10-8, HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific associat