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.

Kryptogamenflora für Anfänger : eine Einführung in das Studium der blütenlosen Gewächse für Studierende und Liebhaber / hrsg. von Gustav Lindau.

Bd.IV,pt.3 (1916)

Kryptogamenflora für Anfänger : eine Einführung in das Studium der blütenlosen Gewächse für Studierende und Liebhaber / hrsg. von Gustav Lindau.

Bd.IV,pt.2 (1914)

Kryptogamenflora für Anfänger : eine Einführung in das Studium der blütenlosen Gewächse für Studierende und Liebhaber / hrsg. von Gustav Lindau.

Bd.II,pt.2 (1922)

Kryptogamenflora für Anfänger : eine Einführung in das Studium der blütenlosen Gewächse für Studierende und Liebhaber / hrsg. von Gustav Lindau.

Bd.I (1917)

Kryptogamenflora für Anfänger : eine Einführung in das Studium der blütenlosen Gewächse für Studierende und Liebhaber / hrsg. von Gustav Lindau.

Bd.II,pt.1 (1922)

Thesaurus litteraturae mycologicae et lichenologicae ratione habita praecipue omnium quae adhuc scripta sunt de mycologia applicata quem congesserunt G. Lindau et P. Sydow.

5

Thesaurus litteraturae mycologicae et lichenologicae ratione habita praecipue omnium quae adhuc scripta sunt de mycologia applicata quem congesserunt G. Lindau et P. Sydow.

4

El cine entre la inmediatez y la memoria: los motivos de la naturaleza muerta y de la ruina a partir de Still Life (2006) de Jia Zhang Ke

Este trabajo de investigación plantea un estudio sobre los motivos de la naturalezamuerta y de la ruina en el cine a partir de la película de Jia Zhang Ke titulada Still Life (2006). Se propone establecer una continuidad con la modernidad a través de ambos motivos y llevar a cabo una relectura de los mismos desde un análisis hermeneútico que parte de la tradición pictórica y pone en diálogo la cinematografía de otros cineastas como Roberto Rossellini, Yasujiro Ozu, Robert Bresson, Abbas Kiarostami, entre otros, para reflexionar sobre la práctica cinematográfica entre la inmediatez y la memoria.

Tasavallan Presidentin radio- ja televisiopuhe Pohjolan päivän johdosta 12.4.1961

Puhe

1) Imatran Voima Oy 1/12 1956 2) Pohjolan Voima Oy

Kirje 1.12.1956