Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation

von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary cancer syndrome that predisposes to the development of a variety of benign and malignant tumours, especially cerebellar haemangioblastomas, retinal angiomas and clear-cell renal cell carcinomas (RCC). The etiology and manifestations are due to germline and somatic mutations in the VHL tumour suppressor gene. VHL disease is classified into type 1 and type 2, showing a clear genotype-phenotype correlation, as type 2 is associated with phaeochromocytoma and essentially caused by missense mutations. The aim of this study is to characterize the phenotype and genotype of families with VHL disease. Eighteen of twenty patients from ten unrelated families underwent genetic testing, nine of them fulfilled VHL disease criteria and one had an apparently sporadic cerebellar haemangioblastoma. Four different germline mutations in the VHL gene were identified: c.226_228delTTC (p.Phe76del); c.217C > T (p.Gln73X); IVS1-1 G > A and IVS2-1 G > C. The first three mutations were associated with type 1 disease and the last one with type 2B, which had never been identified in the germline. The transcriptional processing of a novel splice-site mutation was characterised. Three type 1 VHL families showed large deletions of the VHL gene, two of them encompassed the FANCD2/C3orf10 genes and were not associated with renal lesions. We also suggest that such families should be subclassified according to the risk of RCC and the extent of the VHL gene deletions. This study highlights the need for a through clinical and molecular characterisation of families with VHL disease to better delineate its genotype-phenotype correlation.

Did they read Marx? Marx reception and social democratic party members in imperial Germany, 1890-1914

Did rank-and-file members of the German Social Democratic party before 1914 bother to read Marx? A number of studies of borrowing from trade union and other workers' libraries since the 1970s have indicated that workers who read Marx were rare, although this does not mean that workers' reading habits were not influenced by socialist ideas. However, for a broader understanding of the reception of Marx's writings among rank-and-file German socialists, it is necessary to consider not only books, but the pamphlet literature produced by the SPD in huge quantities, serialisations and other treatments in the party press, and oral communication. When the full range of sources is considered, the extent of the reception of Marx's writings, albeit often in very simplified forms, can be more fully appreciated.

A questão racial pensada entre o “método científico” e a paixão : um estudo comparado entre José Ingenieros e Manoel Bomfim – Argentina e Brasil (1900-1920)

Esta dissertação de Mestrado tem como objetivo analisar comparativamente a forma pela qual a temática da Raça foi discutida pelo ítalo-argentino José Ingenieros e pelo brasileiro Manoel Bomfim nas duas primeiras décadas do século XX. A hipótese deste trabalho é que ambos os autores buscaram definir qual seria o “legítimo povo” dos seus respectivos países a partir de um critério racial. Esta pesquisa está dividida em três partes. O primeiro capítulo busca traçar o perfil intelectual de Ingenieros e de Bomfim para que os leitores possam visualizar a trajetória profissional destes homens e entendê-los melhor; o segundo capítulo demonstra as concepções de mundo em meio a qual estes autores cresceram e como elas repercutiram em seus escritos; o último capítulo é dedicado a fazer a análise das fontes Sociologia Argentina, de Ingenieros, e América Latina: males de origem, de Bomfim, para que seja possível refletir sobre como estes intelectuais pensaram a questão da raça e como eles a relacionaram às suas concepções de “povo ideal” em seus respectivos países.