INHALT (Ziffern in Klammer hinter den Seitenzahlen verweisen auf die Heft-Nummer des 25Jg.)

A mutation of HIF-2 alpha has been detected in three generations of a family with erythrocytosis and the mutation co-segregated with the erythrocytosis phenotype. Functional studies revealed that Gly537Trp mutation would significantly impair the function of HIF-2 alpha thus leading to increased synthesis of Epo. In addition to VHL and PHD2 a further member of the oxygen sensing pathway, namely ...

OBJECTIVE To gather, to characterize, to analyze, to synthesize and to integrate primary studies that addressed the experiences of spouses / husbands / partners of women with breast cancer, presenting the current state of knowledge. METHOD Integrative literature review carried out in the databases of VHL, PubMed, CINHAL e SciELO. RESULTS The sample consisted of eight studies published betwe...

1 Department of Computer Science and Engineering, University of California, San Diego, CA, USA ([email protected]) 2 Department of Cognitive Science, University of California, San Diego, CA, USA ([email protected], [email protected]) 3 Frankfurt Institute for Advanced Studies, Max-von-Laue Str. 1, 60437 Frankfurt am Main, Germany 4 Los Alamos National Laboratory; CCS-1, MS-B287, Los A...

n engl j med 354;25 www.nejm.org june 22, 2006 2731 paraganglioma syndrome 1; in the extent of multifocal tumors in the group with MEN-2, the group with von Hippel–Lindau disease, and the group with paraganglioma syndrome 1; and in the extent of extraadrenal tumors in the group with MEN-2, the group with von Hippel–Lindau disease, the group with paraganglioma syndrome 1, and the group with para...

CLINICAL CASE Man carrier of the von Hippel-Lindau (VHL) gene, with long-onset loss of vision in left eye. He had a retinal capillary hemangioma (HCR) and diffuse cystic edema in posterior pole. The systemic study revealed bilateral kidney tumors. Laser photocoagulation was performed which produced a subretinal and vitreous hemorrhage that required vitrectomy. DISCUSSION Retinal capillary hem...

Q1: What family history should be explored in a 17 year old girl with multiple cerebellar haemangioblastomas and why? The development of haemangioblastoma within the central nervous system is a common first manifestation of von Hippel-Lindau disease, which is inherited in an autosomal dominant fashion. A careful family history would be expected to reveal similar features of the condition within...