Gêneses urbanas do colonialismo: síntese de encontros culturais

Investigações sobre a gênese das vilas litorâneas de Cananeia, Iguape, São Vicente, Santos, São Sebastião e Ubatuba, no atual estado de São Paulo, evidenciam a significativa contribuição das sociedades indígenas nas ocupações do colonialismo. Presentes alguns séculos antes da chegada dos europeus, elas elegeram essa frente atlântica como habitat, estabelecendo em nichos ecológicos seus lugares de vivência. Tais escolhas balizaram as futuras instalações. Uma recorrência simboliza o encontro cultural entre indígenas e europeus: a articulação do módulo espacial da Matriz com a contiguidade da "rua direita".

Wilson’s disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene

OBJECTIVE: Wilson's disease (WD) is an inborn error of metabolism caused by abnormalities of the copper-transporting protein encoding gene ATP7B. In this study, we examined ATP7B for mutations in a group of patients living in southern Brazil. METHODS: 36 WD subjects were studied and classified according to their clinical and epidemiological data. In 23 subjects the ATP7B gene was analyzed. RESULTS: Fourteen distinct mutations were detected in at least one of the alleles. The c.3207C>A substitution at exon 14 was the most common mutation (allelic frequency=37.1%) followed by the c.3402delC at exon 15 (allelic frequency=11.4%). The mutations c.2018-2030del13 at exon 7 and c.4093InsT at exon 20 are being reported for the first time. CONCLUSION: The c.3207C>A substitution at exon 14, was the most common mutation, with an allelic frequency of 37.1%. This mutation is the most common mutation described in Europe.