Expression of the Ret receptor tyrosine kinase is a defining feature of enteric neurons. Its importance is underscored by the effects of its mutation in Hirschsprung disease, leading to absence of gut innervation and severe gastrointestinal symptoms. We report a new and physiologically significant site of Ret expression in the intestine: the intestinal epithelium. Experiments in Drosophila indi...

The transcription factor Sox10 is required for proper development of various neural crest-derived cell types. Several lineages including melanocytes, autonomic and enteric neurons, and all subtypes of peripheral glia are missing in mice homozygous for Sox10 mutations. Moreover, haploinsufficiency of Sox10 results in neural crest defects that cause Waardenburg/Hirschsprung disease in humans. We ...

Introduction: The aim of this study is to determine the incidence, morbidity and functional outcome of two techniques for Hirschsprung disease (single-stage Duhamel pull-through and tans-anal pull-through) in the neonatal age group. Method: All the neonates with Hirschsprung disease with short aganglionic segment (transition zone at recto-sigmoid junction) admitted during the last 6 years were ...

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...

Objective: To determine the frequency of nerve bundle hypertrophy in aganglionic segments relation to site biopsy, along with assessment value Calretinin immunostaining diagnosis suspected cases Hirschsprung disease. Study Design: Cross Sectional study. Setting: Department Pathology, Pakistan Institute Medical Sciences (PIMS) Islamabad. Period: September 2018 March 2019. Material & Methods:...

The neural crest is a transient population of migratory cells in the embryo that gives rise to a wide variety of different cell types, including those of the peripheral nervous system. Dysfunction of neural crest cells (NCCs) is associated with multiple diseases, such as neuroblastoma and Hirschsprung disease. Recent studies have identified NCC behaviors during their migration and differentiati...

Introdução: A doença de Hirschsprung, também conhecida como megacólon congênito, apresenta alterações na inervação entérica distal. Durante o período neonatal, apresenta-se através da tríade clássica vômitos, distensão abdominal e atraso eliminação meconial. Objetivo: Descrever quadro clínico paciente do sexo masculino diagnosticado com brida congênita má rotação intestinal. Comentário: Embora ...

Waardenburg syndrome (WS) is a rare disorder characterized by pigmentation defects and sensorineural deafness, classified into four clinical subtypes, WS1-S4. Whereas the absence of additional features characterizes WS2, association with Hirschsprung disease defines WS4. WS is genetically heterogeneous, with six genes already identified, including SOX10. About 50 heterozygous SOX10 mutations ha...

MANY theories have been postulated to account for 'congenital megacolon' since the classical description by Hirschsprung in 1888. At first the dilated bowel of the megacolon attracted most of the attention but later most features of the disease were attributed to the absence of ganglion cells in an undilated segment of distal bowel. More recently, however, morphological and physiological observ...