Congenital intestinal neuronal disturbances have been classified as aganglionosis (
Hirschsprung's di sease), hyperganglionosis (Intestinal Neuronal Dys plasia), hypoganglionosis, ganglion cell immaturity, combined forms and certain unclassifiable forms.1
Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic
Hirschsprung disease.
"He was diagnosed with
Hirschsprung's when he was born and when he was six days old, he was taken to the RVI and we were told he wouldn't live.
Hirschsprung's disease is named after the 19th century doctor, Harald
Hirschsprung, who first identified it in 1886.
In light of above observations, this study was conducted to compare the in vitro contractility in the gut tissues of
Hirschsprung's disease and the other congenital gut malformations using acetylcholine and histamine as chemical mediators.
Concomitant congenital anomalies might have implications for the outcome in children with
Hirschsprung disease (HD) [1].
Hirschsprung's disease (HD) is a congenital disorder with a reported prevalence of 1: 5000 and a female to male ratio of 1:4 [1, 2].
Kriks et al., "Deriving human ENS lineages for cell therapy and drug discovery in
Hirschsprung disease," Nature, vol.
Objective: To systematically summary the updated results about the pathogenesis of
Hirschsprung's-associated enterocolitis (HAEC).
Hirschsprung's disease (HD) is a common paediatric surgical emergency encountered and it poses a great challenge to both the paediatricians as well as the paediatric surgical team.
William Meier-Ruge is credited with providing the first description of IND B in 1971.1 At the time, he had pioneered acetylcholinesterase (AChE) histochemical staining of mucosal nerve fibers as a diagnostic adjunct for
Hirschsprung disease (HSCR), and he reported on patients with HSCR-like clinical findings and HSCR-like patterns of AChE histochemical staining in their rectal (mucosal + submucosal) biopsies, but in whom the presence of enteric ganglion cells excluded HSCR.
Hirschsprung's disease (HD) is generally believed that the intestinal nervous system develops disorders during the embryonic stage that lead to the development without any ganglia of the distal intestinal mucosa and the muscular layer.[1] A recent study has suggested that this may be associated with specific chromosomal abnormalities and syndromes.[2] In 1948, Swenson et al .