We report a boy with truncus arteriosus, dysmorphic features, developmental delay, passing hypotonia, short segment Hirschsprung disease (HSCR), and paroxysmal hypoventilation. FISH analysis showed an interstitial deletion in chromosome band 22q11.2 coinciding with the deletions found in DiGeorge syndrome and velocardiofacial syndrome. Mutation scanning of RET, GDNF, EDNRB, and EDN3, genes asso...

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...

Cartilage hair hypoplasia (CHH), is a rare cause of metaphyseal chondrodysplasia and short stature. Other featuresincluded hair abnormality, immunodeficiency, anemia, gastrointestinal disorders (Hirschsprung disease,celiac, …) and increased risk of cancer. The disease is an autosomal recessive disorder and previously has notbeen reported in Iran. We report a 9-year-old boy diagnosed as cartilag...

OBJECTIVES The purpose of this work was to examine changes in quality of life, disease-specific functioning, and psychosocial competencies of children and adolescents (8-16 years of age) with anorectal malformations or Hirschsprung disease and to identify predictors of change in quality of life by testing an explanatory model in which background variables explained changes in quality of life vi...

Hirschsprung disease is a heterogeneous genetic disorder, causative genes of which include the endothelin B receptor (ETB). To investigate the mutations of ETB in Hirschsprung disease, expression of the ETB gene in lymphoblastoid cells from patients and normal healthy adults was examined, and novel mutant transcripts were found. The mutant ETB gene transcripts lacked a 134-bp nucleotide sequenc...

Hirschsprung disease (HSCR) is the most frequent genetic cause of congenital intestinal obstruction with an incidence of 1:5000 live births. In a pathway-based epistasis analysis of data generated by genome-wide association study on HSCR, specific genotype of Patched 1 (PTCH1) has been linked to an increased risk for HSCR. The aim of the present study is to examine the contribution of genetic v...

objective(s) definite diagnosis of hirschsprung’s disease (hd) is based on histopathological study, but there are limitations associated with standard histology and histochemistry in this regard. the aim of this study was to investigate calretinin immunostaining patterns in both ganglionic and aganglionic hd intestinal specimens and to compare them with control specimens. materials and methods ...

Denmark, officially the Kingdom of Denmark, as it is known, is a state in the Scandinavian region of Northern Europe. The estimated population is around ,5,580,413. The national language is Danish [1]. Denmark has one of the world’s highest per capita income. For 2013, Denmark is listed 15th on the Human Development Index.Danish engineers are world-leading in providing diabetes care equipment a...