High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease.

Purpose: Hirschsprung's disease (HSCR) is the leading cause of neonatal functional intestinal obstruction, which has been identified in many familial cases. HSCR, a multifactorial disorder of enteric nervous system (ENS) development, is associated with at least 24 genes and seven chromosomal loci, with RET and EDNRB as its major genes. We present a genetic investigation of familial HSCR to clarify the genotype-phenotype relationship.

Enhanced recovery after surgery for the treatment of congenital duodenal obstruction.

Background: Enhanced recovery after surgery (ERAS) has been widely used in adult surgery. However, ERAS has not been reported in neonatal surgery. The present prospective study explored the application value of ERAS in treating congenital duodenal obstruction (CDO).

Gene expression profiling coupled with Connectivity Map database mining reveals potential therapeutic drugs for Hirschsprung disease.

Background: Hirschsprung disease (HD) is a congenital intestinal anomaly resulting from a failure to form enteric ganglia in the lower bowel. Surgery is the main therapeutic strategy, although neural stem cell transplantation has recently shown promise. However, HD remains a challenging disorder to treat.

[Timing investigation of single-stage definitive surgery for newborn with Hirschsprung's disease].

Objective: To investigate the operation timing of newborns with rectosigmoid Hirschsprung's disease (HD).

Methods: From March 2013 to September 2015, 35 newborns diagnosed as rectosigmoid HD in our department were prospectively and randomly divided into 2 groups: less than 3 months treatment group (18 cases) and more than 3 months treatment group (17 cases, conservative treatment for 3 months). They all underwent laparoscopic-assisted transanal endorectal pull-through (LATEP) (modified Soave) procedure.