Grupo de suporte como estratégia para assistência de enfermagem à família de recém-nascidos hospitalizados

RESUMO Estudo descritivo, exploratório, convergente assistencial. Objetivo: descrever o percurso metodológico do uso da tecnologia de grupo para o cuidado de enfermagem às famílias dos recém-nascidos (RN) internados em Unidade de Terapia Intensiva, oferecendo suporte emocional e informações. A coleta de dados ocorreu de fevereiro a março de 2010 e os sujeitos foram membros das famílias de RN hospitalizados na UTI de um hospital do Estado de Goiás. A condução do grupo incluía: acolhida, apresentação do grupo e contrato grupal; processo grupal; avaliação e encerramento. Conflitos, sentimentos, interações e bloqueios podem surgir durante a sessão grupal, portanto o coordenador deve estar preparado para compreender o movimento do grupo e conduzir os acontecimentos, contribuindo para o crescimento e aprendizagem de todos. O grupo pode ser usado pelo enfermeiro para acolher às famílias dos RN na unidade hospitalar, uma vez que ajuda as pessoas a enfrentarem a crise vivida e atenuar seu sofrimento. Descritores: Acolhimento; Família; Grupos de Apoio; Unidades de Terapia Intensiva Neonatal

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.Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq)Fundacao Hemocentro de Ribeirao Preto (FUNDHERP

1031-1034delTAAC (Leu125Stop): a novel familial <it>UBE3A</it> mutation causing Angelman syndrome in two siblings showing distinct phenotypes

<p>Abstract</p> <p>Background</p> <p>More than 50 mutations in the <it>UBE3A</it> gene (E6-AP ubiquitin protein ligase gene) have been found in Angelman syndrome patients with no deletion, no uniparental disomy, and no imprinting defect.</p> <p>Case Presentation</p> <p>We here describe a novel <it>UBE3A</it> frameshift mutation in two siblings who have inherited it from their asymptomatic mother. Despite carrying the same <it>UBE3A</it> mutation, the proband shows a more severe phenotype whereas his sister shows a milder phenotype presenting the typical AS features.</p> <p>Conclusions</p> <p>We hypothesized that the mutation Leu125Stop causes both severe and milder phenotypes. Potential mechanisms include: i) maybe the proband has an additional problem (genetic or environmental) besides the <it>UBE3A</it> mutation; ii) since the two siblings have different fathers, the <it>UBE3A</it> mutation is interacting with a different genetic variant in the proband that, by itself, does not cause problems but in combination with the <it>UBE3A</it> mutation causes the severe phenotype; iii) this <it>UBE3A</it> mutation alone can cause either typical AS or the severe clinical picture seen in the proband.</p

Núcleos de Ensino da Unesp: artigos 2008

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq