نتایج جستجو برای: hirschsprung disease
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hirschsprung's disease, also known as congenital aganglionic megacolon, is a congenital disorder which develops due to an absence of neural ganglia in a segment of large bowel. most commonly, the rectum or rectosigmoid, and rarely other areas or the entire colon are involved. in this disease, all three neural plexi, i.e., the myenteric (auerbach's) plexus, the superficial submucosal (...
Familial predisposition to neuroblastoma, a common embryonal cancer of childhood, segregates as an autosomal dominant trait with high penetrance. It is therefore likely that neuroblastoma susceptibility is due to germ line mutations in a tumor suppressor gene. Cytogenetic, functional, and molecular studies have implicated chromosome band 1p36 as the most likely region to contain a suppressor ge...
Hirschsprung disease (HSCR) is a partially penetrant oligogenic birth defect that occurs when enteric nervous system (ENS) precursors fail to colonize the distal bowel during early pregnancy. Genetic defects underlie HSCR, but much of the variability in the occurrence and severity of the birth defect remain unexplained. We hypothesized that nongenetic factors might contribute to disease develop...
Introduction: Constipation is one of the most common complaints of individuals, which may present with complication like hemorrhoid and fissure. Hirschsprung is a disease presenting with chronic constipation and its diagnosis may be delayed until adulthood. It is diagnosed by biopsies from anorectal transitional zone. This study aimed to evaluate the association between Hirschsprung and anorect...
A four month old male infant was referred to the pediatric clinic of Afshar Hospital in Yazd city because of cyanosis. On physical examination, patient had central cyanosis, single second heart sound, A grade III/VI continuous murmur in left clavicular area, abdominal distension and large sized smooth and movable abdominal mass in right upper quadrant of abdomen. Transthoracic echocardiograp...
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