Title Hirschsprung ' s disease
نویسندگان
چکیده
منابع مشابه
Hirschsprung Disease Diagnosis: Calretinin Marker Role in Determining the Presence or Absence of Ganglion Cells
Background: Hirschsprung disease is a complex genetic disorder of the enteric nervous system (ENS), often called congenital aganglionic megacolon and characterized by the absence of enteric neurons along a variable length of the intestine. The definitive diagnosis of Hirschsprung disease relies on histologic and/or histochemical staining of sections fr...
متن کاملRET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family
Hirschsprung disease is a congenital form of aganglionic megacolon that results from cristopathy. Hirschsprung disease usually occurs as a sporadic disease, although it may be associated with several inherited conditions, such as multiple endocrine neoplasia type 2. The rearranged during transfection (RET) proto-oncogene is the major susceptibility gene for Hirschsprung disease, and germline mu...
متن کاملA Hirschsprung disease locus at 22q11?
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...
متن کاملThe role of training in parents of patients with Hirschsprung disease, accompaniment of the health service staff and the patient's parents
Background: Parent training is an appropriate way to increase their awareness in dealing with a sick child. Childhood illness causes parents to be worried and stressed. Lack of information about disease will increase their concern. Educational programs can reduce parental stress and postoperative complications. Methods: In this study, the mothers of Hirsc...
متن کاملA consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome).
Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family. A fourth child showed similar clinical features, with the exception of Hirschsprung disease. The association of these abnormalities in these children represents the Goldberg-Shprintzen syndrome (OMIM 235730). Mutation scanni...
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