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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
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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 12 (1997), S. 576-579 
    ISSN: 1437-9813
    Keywords: Infantile hypertrophic pyloric stenosis ; Neuronal nitric oxide synthase ; messenger RNA ; Reverse transcription-polymerase chain reaction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Nitric oxide (NO) has been described as a mediator of smooth muscle relaxation in the mammalian gastrointestinal tract. The enzyme neuronal nitric oxide synthase (NOS) catalyzes the formation of NO. We examined the expression of the neuronal NOS gene at the messenger RNA (mRNA) level in pyloric smooth-muscle biopsy specimens from six patients with infantile hypertrophic pyloric stenosis (IHPS) using a reverse transcription-polymerase chain reaction (RT-PCR) technique. For controls, smooth-muscle layer specimens of pylorus (n = 3), ileum (n = 2), and colon (n = 2) were used. With 31 cycles of PCR reaction, control specimens revealed detectable signals for neuronal NOS mRNA. In contrast, signals of IHPS specimens were undetectable in five cases and very weak in one. By increasing the PCR to 37 cycles, detectable signals for neuronal NOS mRNA were observed in all IHPS specimens, but they were significantly weaker than those of controls. Since a low level of neuronal NOS mRNA may lead to impaired production of NO, our observations indicate that the excessively contracted, hypertrophied pyloric muscle in IHPS is a result of reduced expression of the neuronal NOS gene at the mRNA level.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric surgery international 16 (2000), S. 282-284 
    ISSN: 1437-9813
    Keywords: Key words Desmin ; Infantile hypertrophic pyloric stenosis ; Immunohistochemistry ; Fetus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Recent reports indicate that extracellular matrix and cytoskeleton plasmalemmal elements are altered in infantile hypertrophic pyloric stenosis (IHPS). Desmin is a cytoskeletal protein that is important for the organization and function of muscular fibers. It has been found to be increased in the smooth muscle in chronic intestinal pseudo-obstruction and in skeletal muscle in some forms of myopathies as well as in unexplained hypertrophic cardiomyopathies. The aim of this study was to analyze the expression of desmin in IHPS. Full-thickness muscle-biopsy specimens were obtained from 8 IHPS patients (age range 23 to 41 days) at pyloromyotomy, from 8 age-matched controls without evidence of gastrointestinal (GI) disease at autopsy, and from 2 stillborns who died at 27 and 30 weeks of gestation without evidence of GI disease. Indirect immunohistochemistry was performed using the avidin-biotin-peroxidase complex method with anti-desmin and visualized by development with 3-diaminobenzidine tetrahydrochloride. Pyloric muscle in IHPS demonstrated strong desmin immunoreactivity. The expression of desmin was also strong in the muscular layers of fetal pylorus. In the age-matched controls absent or weak desmin immunoreactivity was seen in the pyloric muscle layer. The increased amount of desmin in hypertrophied pyloric muscle in IHPS may result in inco-ordination of contraction and relaxation of the pylorus, thus causing motility dysfunction. The similar pattern of desmin expression in IHPS and fetal pylorus suggests that the organization of intermediate filaments in IHPS is in a fetal stage of development.
    Type of Medium: Electronic Resource
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