Hirschsprung’s disease

This retrospective descriptive study was conducted to evaluate the outcomes of laparoscopicassisted surgery for total colonic aganglionosis (TCA) using the Duhamel technique at the National Children's Hospital from 2013 to 2018.

8p vibecca 01-10-2024 0 0   Download

Hirschsprung's disease is a congenital condition characterized by the absence of ganglion cells in the colon. While approximately 90% of cases are diagnosed before the age of five, the occurrence of Hirschsprung's disease in adults is rare and frequently overlooked.

7p vibecca 01-10-2024 3 2   Download

The transanal one-stage endorectal pull-through (TOSEPT) procedure sometimes requires assistance by an abdominal approach to complete the operation. This study aims to rectify this by evaluating the impact of an assisted abdominal approach in the outcomes of the TOSEPT in children with HD.

5p vinatisu 29-08-2024 2 1   Download

While most autosomal dominant inherited cancer syndromes are due to mutations in tumor-suppressor genes (Table 79-1), there are a few interesting exceptions. Multiple endocrine neoplasia type II, a dominant disorder characterized by pituitary adenomas, medullary carcinoma of the thyroid, and (in some pedigrees) pheochromocytoma, is due to gain-of-function mutations in the protooncogene RET on chromosome 10. Similarly, gain-of-function mutations in the tyrosine kinase domain of the MET oncogene lead to hereditary papillary renal carcinoma.

5p konheokonmummim 03-12-2010 113 7   Download