BACKGROUND In a subset of patients with Hirschsprung's disease (HSCR), gastrointestinal motor dysfunction persisted long after surgical correction. Gastrointestinal motility is achieved through the coordinated activity of the enteric nervous system, interstitial cells of Cajal, and smooth muscle (SMC) cells. Inhibition of four-and-a-half LIM protein-1 (Fhl1) expression by siRNA significantly de...

The enteric nervous system of vertebrates is derived from neural crest cells that invade the gut wall and generate a highly organised network of enteric ganglia. Among the genes that play an important role in ENS development is c-Ret, mutations of which result in failure of formation of enteric ganglia (intestinal aganglionosis). To further understand the development of the mammalian ENS in gen...

Enteric nervous system progenitor cells isolated from postnatal human gut and cultured as neurospheres can then be transplanted into aganglionic gut to restore normal patterns of contractility. These progenitor cells may be of future use to treat patients with Hirschprung's disease, a congenital condition characterized by hindgut dysmotility due to the lack of enteric nervous system ganglia. He...

The effects of the abnormal innervation in Hirschsprung's disease on colonic ion transport were examined in vitro using Ussing chambers. The response of the mucosal/submucosal preparations to different secretagogues were investigated in aganglionic and ganglionic rectosigmoid and transverse colon from children with Hirschsprung's disease and compared with normally innervated colon from children...

Differences in the release and content of acetylcholine and the alpha 2 adrenoceptor mediated interaction between noradrenergic and cholinergic neurons were investigated by neurochemical and pharmacological methods in aganglionic and ganglionic segments of isolated human colon taken from children suffering from Hirschsprung's disease. Both at rest and during transmural stimulation the release o...

An antibody directed against Kit protein was used to investigate the distribution of interstitial cells of Cajal (ICC) within the murine colon. The ICC density was greatest in the proximal colon and decreased along its length. The distribution of the different classes of ICC in the aganglionic colons of lethal spotted (ls/ls) mice was found to be similar in age-matched wild-type controls. There...

OBJECTIVE To present our experience of patients with Hirschsprung disease (HD) operated by transanal endorrectal descent (TED). METHODS A retrospective study performed of TEDs. We correlate fundamentally the aganglionic segment length with: Complications, need for colostomy and surgical approach. RESULTS Between 2003 and 2012 we performed 73 TED (57 men), 78.6% diagnosed in the neonatal per...

Mast cells (MC) are source of many biological active compounds like cytokines, arachidonic acid derivates, proteoglicanes, prostaglandins, proteases, free oxygen radials, NGF, PAF and many more. The role of MC in pathogenesis of Hirschsprung's disease (HD) is not clear. Substances produced by MC may exert an important effect on embryology, growth, differentiation and regeneration of intestinal ...

Hirschsprung disease (HSCR, OMIM 142623) is a developmental disorder characterized by the absence of ganglion cells along variable lengths of the distal gastrointestinal tract, which results in tonic contraction of the aganglionic colon segment and functional intestinal obstruction. The RET proto-oncogene is the major gene associated to HSCR with differential contributions of its rare and commo...

The morbid anatomy of Hirschsprung's disease is now firmly established. Swenson and Bill (1948) noted that the dilated colon which figures so largely in the earlier description of the disease terminated at a point proximal to the anus and was followed by a spastic segment. They concluded that the obstruction was due in some way to this segment and that the hypertrophy and dilatation of the bowe...