Congenital Megacolon
Mostrando 1-6 de 6 artigos, teses e dissertações.
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1. RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family
Hirschsprung disease is a congenital form of aganglionic megacolon that results from cristopathy. Hirschsprung disease usually occurs as a sporadic disease, although it may be associated with several inherited conditions, such as multiple endocrine neoplasia type 2. The rearranged during transfection (RET) proto-oncogene is the major susceptibility gene for
Clinics. Publicado em: 2012
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2. Análise do proto-oncogene RET em pacientes com carcinoma medular de tireóide e megacólon congênito de uma família com mutação germinativa p.C620R / Analysis of the RET proto-oncogene in patients with medullary thyroid cancer and congenital mega-colon in a family with germline mutation p.C620R
As Neoplasias endócrinas múltiplas (NEMs) são síndromes herdadas de modo dominante e causadas por mutações germinativas em genes específicos. Caracterizam-se pela presença de tumores em um conjunto de glândulas endócrinas, conjunto este típico de cada tipo-específico de NEM. Dentre os diferentes tipos de NEMs, há a neoplasia endócrina múltipla
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 11/10/2011
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3. Avaliação clínica, manométrica e profilométrica dos pacientes portadores de megacolo congênito submetidos à cirurgia de abaixamento de colo pelas técnicas de Duhamel modificado ou Retossigmoidectomia Transanal. / Clinical, manometric and prophilometric evaluation of patients with Hirschsprungs Disease underwent to pull-through techniques of modified Duhamel or transanal rectosigmoidectomy.
Objective: Several techniques are being proposed for a definite treatment using surgery for the Hirschsprungs disease or congenital megacolon (CM). This study aims to evaluate the differences in the surgery results obtained with manometric anorectal procedure and profilometric analysis, as well as verify its correlation with clinical parameters of patients f
Publicado em: 2007
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4. Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease
The spontaneous mouse mutant Dominant megacolon (Dom) is a valuable model for the study of human congenital megacolon (Hirschsprung disease). Here we report that the defect in the Dom mouse is caused by mutation of the gene encoding the Sry-related transcription factor Sox10. This assignment is based on (i) colocalization of the Sox10 gene with the Dom mutat
The National Academy of Sciences.
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5. Null mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat color.
Mutations in the gene encoding the endothelin receptor type B (EDNRB) produce congenital aganglionic megacolon and pigment abnormalities in mice and humans. Here we report a naturally occurring null mutation of the EDNRB gene in spotting lethal (sl) rats, which exhibit aganglionic megacolon associated with white coat color. We found a 301-bp deletion spannin
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6. Clinical features of idiopathic megarectum and idiopathic megacolon.
BACKGROUND: Dilatation of the rectum and/or colon, in the absence of demonstrable organic disease, is an uncommon and poorly characterised condition. AIMS: To characterise the clinical and diagnostic features, and response to treatment, of patients with idiopathic megarectum (IMR) and idiopathic megacolon (IMC). METHODS: A retrospective review was undertaken