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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric surgery international 12 (1996), S. 19-23 
    ISSN: 1437-9813
    Keywords: Key words Hirschsprung’s disease ; Endothelin-B receptor gene ; Endothelin-3 gene ; Mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  The endothelin-B receptor gene (EDNRB) and the endothelin-3 gene (EDN3) have recently been recognized as susceptibility genes for Hirschsprung’s disease (HD). Novel EDNRB mutations have been detected in non-syndromic HD patients with heterozygous forms, and homozygous mutations of the EDNRB or the EDN3 genes have been reported in HD patients associated with type 2 Waardenburg syndrome. These observations confirm that impaired function of the endothelin-B receptor or endothelin-3 is involved in the aetiology of some human HD cases. EDNRB mutations appear to be associated with short-segment HD, in contrast to RET mutations, which are found mainly in long-segment aganglionosis.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric surgery international 12 (1996), S. 19-23 
    ISSN: 1437-9813
    Keywords: Hirschsprung's disease ; Endothelin-B receptor gene ; Endothelin-3 gene ; Mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The endothelin-B receptor gene (EDNRB) and the endothelin-3 gene (EDN3) have recently been recognized as susceptibility genes for Hirschsprung's disease (HD). Novel EDNRB mutations have been detected in non-syndrommc HD patients with heterozygous forms, and homozygous mutations of the EDNRB or the EDN3 genes have been reported in HD patients associated with type 2 Waardenburg syndrome. These observations confirm that impaired function of the endothelin-B receptor or endothelin-3 is involved in the aetiology of some human HD cases. EDNRB mutations appear to be associated with shortsegment HD, in contrast to RET mutations, which are found mainly in long-segment aganglionosis.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric surgery international 15 (1999), S. 192-194 
    ISSN: 1437-9813
    Keywords: Keywords Internal anal sphincter achalasia ; Innervation ; PGP 9.5 ; Synapse ; Synapsin I ; Immunohistochemistry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Internal anal sphincter achalasia (IASA) is a condition with a clinical presentation similar to Hirschsprung's disease, but with the presence of ganglion cells on rectal biopsy. The diagnosis of IASA is made on anorectal manometry, which demonstrates the absence of a rectosphincteric reflux on rectal balloon inflation. In order to understand the nature of neuronal abnormalities in this condition, we performed immunohistochemistry using PGP 9.5 (a general neuronal marker) and synapsin I (a presynaptic marker) in IAS specimens from 10 patients with IASA and 8 normal controls. In the IAS of normal controls, there were many PGP 9.5 and synapsin I-positive nerve fibers. In IASA PGP 9.5-immunoreactive fibers were markedly reduced and synapsin I-positive fibers were either absent or markedly reduced. Our findings demonstrate that the IAS in achalasia patients has defective intramuscular innervation as well as defective innervation of the neuromuscular junction, thereby contributing to the motility dysfunction.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric surgery international 13 (1998), S. 243-252 
    ISSN: 1437-9813
    Keywords: Key words Infantile hypertrophic pyloric stenosis ; Pathogenesis ; Innervation ; Extracellular matrix proteins ; Growth factors
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Although infantile hypertrophic pyloric stenosis (IHPS) is the most common condition requiring surgery in the first few months of life, its pathogenesis is not fully understood. Reviews of the recent progress in the pathogenesis of IHPS show: (1) there is increasing evidence to suggest that smooth-muscle cells in IHPS are not properly innervated; (2) because non-adrenergic, non-cholinergic nerves are mediators of smooth-muscle relaxation, it is likely that the absence of these nerves in pyloric muscle is the cause of excessively contracted hypertrophic circular pyloric muscle; (3) there are abnormal amounts of extracellular matrix proteins in hypertrophic pyloric muscle. Circular muscle cells in IHPS are actively synthesizing collagen, and this may be responsible for the characteristic “firm” nature of the pyloric tumor; and (4) the increased expression of insulin-like growth factor-I, transforming growth factor-ß1, and platelet-derived growth factor-BB and their receptors in hypertrophic pyloric muscle suggests that increased local synthesis of growth factors may play an important role in smooth-muscle hypertrophy in IHPS.
    Type of Medium: Electronic Resource
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