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  • Digitale Medien  (4)
  • Hirschsprung's disease  (3)
  • RET proto-oncogene  (2)
  • 1
    Digitale Medien
    Digitale Medien
    Springer
    Pediatric surgery international 3 (1988), S. 269-274 
    ISSN: 1437-9813
    Schlagwort(e): Hirschsprung's disease ; Aganglionic segment ; Alpha-naphthylesterase ; Histochemistry ; Pseudo-Hirschsprung's disease
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract The authors present their experience with the histotopochemical alpha-naphthylesterase reaction for intraoperative evaluation of the length of the aganglionic segment in Hischsprung's disease (HD). The activity of nonspecific esterases (Davis and Ornstein technique [1]) was used to demonstrate the presence or absence of intramural ganglion cells in seromuscular intestinal biopsies taken at various levels in 50 patients with the preoperative diagnosis of HD; in 44 cases the biopsies were taken during a radical HD operation (endorectal pull-through, Soave technique). In the remaining 6 cases, which presented with intestinal obstruction, the biopsies were taken during laparotomy. The authors consider this histochemical technique a reliable, quick, simple, and economical method for intraoperative evaluation of the length of the aganglionic segment. It is also useful for confirming the diagnosis of HD and is of great help in the study of so-called pseudo-HD.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    ISSN: 1437-9813
    Schlagwort(e): Total colonic aganglionosis ; Hirschsprung's disease ; Neurocristopathies ; Pathogenesis ; Chromosome 10
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract We present the case of a patient with total colonic aganglionosis and small-bowel involvement (TCSA) associated with a 46, XX, del 10 (q11.21 q21.2) karyotype. Seromuscular biopsies were taken from the rectum, colon, cecum, and terminal ileum. The alpha-naphthylesterase technique was applied to demonstrate intestinal ganglia of the myenteric plexus. The patient did not have associated anomalies. The association of TCSA with 10 long-arm interstitial deletion has not been reported in the literature. Molecular studies in cases of TCSA might reveal whether chromosome 10 plays a role in the pathogenesis of the disease.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 3
    Digitale Medien
    Digitale Medien
    Springer
    Pediatric surgery international 12 (1996), S. 2-10 
    ISSN: 1437-9813
    Schlagwort(e): Hirschsprung's disease ; Neurocristopathies ; RET proto-oncogene
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Recent molecular-genetic and histochemical studies of intestinal aganglionosis have confirmed the initial classification established by Bolande, who considered Hirschsprung's disease (HD) a neurocristopathy. This paper is a critical review of the results of molecular-genetic studies carried out from 1992 to date. In particular, the author focuses on the possible clinical impact of the identification ofRET as a causative gene for HD.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 4
    Digitale Medien
    Digitale Medien
    Springer
    Pediatric surgery international 12 (1996), S. 2-10 
    ISSN: 1437-9813
    Schlagwort(e): Key words Hirschsprung’s disease ; Neurocristopathies ; RET proto-oncogene
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract  Recent molecular-genetic and histochemical studies of intestinal aganglionosis have confirmed the initial classification established by Bolande, who considered Hirschsprung’s disease (HD) a neurocristopathy.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
    BibTip Andere fanden auch interessant ...
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