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  • Mutation  (2)
  • Neuronal nitric oxide synthase  (2)
  • Persistent pulmonary hypertension  (2)
  • Prognostic factors  (2)
  • 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 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
    Library Location Call Number Volume/Issue/Year Availability
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric surgery international 12 (1997), S. 95-100 
    ISSN: 1437-9813
    Keywords: Key words Congenital diaphragmatic hernia ; Fetal repair ; Persistent pulmonary hypertension ; Pulmonary hypoplasia ; Prognostic factors
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  The first description diaphragmatic hernia appeared in 1575. In 1848, Bochdalek described congenital diaphragmatic hernia (CDH) occurring through a posterolateral defect. Successful surgical treatment of CDH in an infant was first performed in 1902, whereas the first neonate operated within 24 hours of life was reported in 1946. However, early surgery did not improve survival rates and the mortality was in the region of 50%. One reason for this was that more neonates underwent surgery who previously would have died without the repair of the CDH. Pulmonary hypoplasia and pulmonary hypertension were early recognised as important reasons for the high mortality rate. In recent years, an enormous effort has been made by research groups all over the world to describe the pathogenesis and pathophysiology of CDH, and apply these findings to clinical practice. Attempts have been made to define prognostic factors. Extracorporeal membrane oxygenation (ECMO) has produced encouraging results. Fetal surgical therapy remains an option in selected cases despite huge technical and ethical problems. Recently, several new therapeutic methods have been suggested, such as high frequency oscillatory ventilation, partial liquid ventilation, nitric oxide inhalation, surfactant therapy, and fetal tracheal ligation. However, more experience is required before the value of these approaches is clear. Despite these efforts, the mortality remains unacceptably high. The challenge for the future is to continue development of therapeutic approaches in order to improve survival of neonates with CDH.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric surgery international 12 (1997), S. 95-100 
    ISSN: 1437-9813
    Keywords: Congenital diaphragmatic hernia ; Fetal repair ; Persistent pulmonary hypertension ; Pulmonary hypoplasia ; Prognostic factors
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The first description diaphragmatic hernia appeared in 1575. In 1848, Bochdalek described congenital diaphragmatic hernia (CDH) occurring through a posterolateral defect. Successful surgical treatment of CDH in an infant was first performed in 1902, whereas the first neonate operated within 24 hours of life was reported in 1946. However, early surgery did not improve survival rates and the mortality was in the region of 50%. One reason for this was that more neonates underwent surgery who previously would have died without the repair of the CDH. Pulmonary hypoplasia and pulmonary hypertension were early recognised as important reasons for the high mortality rate. In recent years, an enormous effort has been made by research groups all over the world to describe the pathogenesis and pathophysiology of CDH, and apply these findings to clinical practice. Attempts have been made to define prognostic factors. Extracorporeal membrane oxygenation (ECMO) has produced encouraging results. Fetal surgical therapy remains an option in selected cases despite huge technical and ethical problems. Recently, several new therapeutic methods have been suggested, such as high frequency oscillatory ventilation, partial liquid ventilation, nitric oxide inhalation, surfactant therapy, and fetal tracheal ligation. However, more experience is required before the value of these approaches is clear. Despite these efforts, the mortality remains unacceptably high. The challenge for the future is to continue development of therapeutic approaches in order to improve survival of neonates with CDH.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric surgery international 12 (1997), S. 576-579 
    ISSN: 1437-9813
    Keywords: Key words 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
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
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