Mostrando 1-12 de 15 artigos, teses e dissertações.
1. 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. Publicado em: 11/10/2011
2. Avaliação morfogenética quantitativa dos plexos submucoso e mioentérico do íleo de eqüinos com aganglionose / Mophogenetic and quantitative assessment of the myenteric and submucosal plexuses of the ileums of horses with ileocolic aganglionosis
A aganglionose intestinal é a ausência congênita e hereditária dos neurônios ganglionares que formam os plexos submucoso e mioentérico, com conseqüente produção de distúrbios peristálticos. Em humanos, esta doença é denominada Doença de Hirschsprung (DH) e nos eqüinos aganglionose íleocólica (AIC). As perdas econômicas na produção eqüina
Publicado em: 2010
3. Análise morfológica do sistema digestório de recém-nascidos de ratas prenhes submetidas à ingestão de etilenotioureia / Morphological analysis on the digestive system of newborns from pregnant rats subjected to ethylenethiourea ingestion
INTRODUÇÃO: As anomalias congênitas são importantes causas de óbitos e de graves sequelas, e a melhoria do conhecimento de doenças como as aganglionoses e outras anomalias do plexo mioentérico é de grande importância. OBJETIVOS: Avaliar morfologicamente, histologicamente e por imunohistoquímica as anomalias do sistema nervoso mioentérico no trato
Publicado em: 2010
4. Hirschsprung's Disease and Congenital Deafness
An association of Hirschsprung's disease (congenital intestinal aganglionosis) and profound congenital deafness is described in four unrelated patients and another reported case which was found in the literature. It is suggested that this might represent a new syndrome.
5. Cat eye syndrome associated with aganglionosis of the small and large intestine.
A newborn male infant is presented with the characteristic phenotype of the cat eye syndrome and a small supernumerary chromosome shorter than a 22. He also had complete absence of parasympathetic ganglion cells throughout the small and large intestine.
6. Extended myectomy-myotomy. A therapeutic alternative for total intestinal aganglionosis.
OBJECTIVE: That total intestinal aganglionosis (extended Hirschsprung's disease) is uniformly incompatible with life as reported in 1985, is challenged by this series of patients treated over the last 7 years with an alternative therapy, extended myectomy-myotomy of the small bowel. SUMMARY BACKGROUND DATA: A total of 16 neonates worldwide presented with int
7. X linked recessive inheritance of agenesis of the corpus callosum.
A 2-year-old boy with psychomotor retardation, congenital unilateral ptosis, bilateral adducted thumbs, weakness of upper limbs, and Hirschsprung's disease (aganglionosis), with complete agenesis of the corpus callosum and hypoplasia of the inferior vermis and cerebellum is reported. His 24-year-old maternal uncle, with severe psychomotor retardation but non
8. A ten-year experience with ninety-two cases of Hirschsprung's disease. Including sixty-seven consecutive endorectal pull-through procedures.
From July 1974 through November 1984, 92 patients with Hirschsprung's disease (congenital aganglionosis) have been treated at the University of Michigan-Mott Children's Hospital. This series includes 67 consecutive modified endorectal pull-through (ERPT) procedures in children. Fifty-one of these 67 patients had standard rectosigmoid disease and underwent a
9. Transgenic expression of the endothelin-B receptor prevents congenital intestinal aganglionosis in a rat model of Hirschsprung disease.
The spotting lethal rat, a naturally occurring rodent model of Hirschsprung disease, carries a deletion in the endothelin-B receptor (EDNRB) gene that abrogates expression of functional EDNRB receptors. Rats homozygous for this mutation (sl) exhibit coat color spotting and congenital intestinal aganglionosis. These deficits result from failure of the neural
10. Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?
We report a patient with total colonic aganglionosis in association with a deletion of part of the long arm of chromosome 10: (del(10)(q11.2q21.2)). This deletion includes the ret proto-oncogene, which has recently been implicated in multiple endocrine neoplasia type 2A (MEN 2A). The possible links between Hirschsprung's disease and the neurocristopathies an
11. A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR) demonstrates a complex pattern of inheritance with ≈50% of familial cases being heterozygous for mutations in the receptor tyrosine kinase RET. Even when identified, the penetrance of RET mutations is only 5
The National Academy of Sciences.
12. A Rare Haplotype of the RET Proto-Oncogene Is a Risk-Modifying Allele in Hirschsprung Disease
Hirschsprung disease (HSCR) is a common genetic disorder characterized by intestinal obstruction secondary to enteric aganglionosis. HSCR demonstrates a complex pattern of inheritance, with the RET proto-oncogene acting as a major gene and with several additional susceptibility loci related to the Ret-signaling pathway or to other developmental programs of n
The American Society of Human Genetics.