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.

Metaphors of opulence and power in the life of Thomas Wolsey, the King’s Cardinal

This essay approaches the display of power and rulership both through the art of writing and the art of painting by focusing on George Cavendish's biographical account of Thomas Wolsey.

The cardinal of various monoids of transformations that preserve a uniform partition

In this paper we give formulas for the number of elements of the monoids ORm x n of all full transformations on it finite chain with tun elements that preserve it uniform m-partition and preserve or reverse the orientation and for its submonoids ODm x n of all order-preserving or order-reversing elements, OPm x n of all orientation-preserving elements, O-m x n of all order-preserving elements, O-m x n(+) of all extensive order-preserving elements and O-m x n(-) of all co-extensive order-preserving elements.

Synchronization in Von Bertalanffy’s models

Many data have been useful to describe the growth of marine mammals, invertebrates and reptiles, seabirds, sea turtles and fishes, using the logistic, the Gom-pertz and von Bertalanffy's growth models. A generalized family of von Bertalanffy's maps, which is proportional to the right hand side of von Bertalanffy's growth equation, is studied and its dynamical approach is proposed. The system complexity is measured using Lyapunov exponents, which depend on two biological parameters: von Bertalanffy's growth rate constant and the asymptotic weight. Applications of synchronization in real world is of current interest. The behavior of birds ocks, schools of fish and other animals is an important phenomenon characterized by synchronized motion of individuals. In this work, we consider networks having in each node a von Bertalanffy's model and we study the synchronization interval of these networks, as a function of those two biological parameters. Numerical simulation are also presented to support our approaches.

Tradução do conto de Peter Handke “Das Umfallen der Kegel von einer bäuerlichen Kegelbahn”

O conto aqui traduzido é um exemplo acabado de desconstrucionismo, sobretudo conseguido através da menorização do papel do narrador, constantemente desautorizado pelas personagens, que o interrompem e o contradizem. Assim, alguns segmentos aparentemente incongruentes não o são de facto. Na tarefa de tradução deste conto, mantivemos as características de descontrução do texto de partida, pelo que quaisquer aparentes incoerências são inerentes ao texto original e não erros de tradução.