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  • Hirschsprung's disease  (8)
  • Key words Infantile hypertrophic pyloric stenosis  (5)
  • Immunohistochemistry  (3)
  • 1
    Electronic Resource
    Electronic Resource
    Altered messenger RNA expression of the neuronal nitric oxide synthase gene in infantile hypertrophic pyloric stenosis (1997)
    Springer
    Pediatric surgery international 12 (1997), S. 576-579 
    Details
    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
    URL: http://dx.doi.org/10.1007/BF01371902
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  • 2
    Electronic Resource
    Electronic Resource
    Altered intramuscular innervation and synapse formation in internal sphincter achalasia (1999)
    Springer
    Pediatric surgery international 15 (1999), S. 192-194 
    Details
    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
    URL: http://dx.doi.org/10.1007/s003830050552
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  • 3
    Electronic Resource
    Electronic Resource
    Increased expression of transforming growth factor-α in infantile hypertrophic pyloric stenosis (1999)
    Springer
    Pediatric surgery international 15 (1999), S. 198-200 
    Details
    ISSN: 1437-9813
    Keywords: Key words Infantile hypertrophic pyloric stenosis ; Smooth-muscle cells ; Transforming growth factor-α (TGF-α)
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Infantile hypertrophic pyloric stenosis (IHPS) is characterized by hypertrophy of the pyloric muscle. The growth of smooth-muscle cells (SMCs) is regulated by several growth factors. Transforming growth factor-α (TGF-α) is a growth-regulatory peptide found in a wide range of embryonic and adult tissues. It has been recognized that TGF-α has growth-promoting effects in vascular and visceral SMCs. The aim of this study was to investigate whether TGF-α plays a role in the pyloric-muscle hypertrophy in IHPS. Full-thickness pyloric-muscle biopsy specimens were obtained at the time of pyloromyotomy from 10 IHPS patients (age range 24–76 days). Age-matched control material included 10 pyloric-muscle specimens taken at autopsy in patients without evidence of gastrointestinal disease. Indirect immunohistochemistry was performed using the ABC method with anti-TGF-α polyclonal antibody. In-situ hybridization was performed using a digoxigenin-labelled, TGF-α-specific oligonucleotide probe. There was a marked increase in TGF-α immunoreactivity and messenger RNA (mRNA) expression in SMCs in pyloric circular and longitudinal muscle in IHPS specimens compared to controls. The increased expression of TGF-α mRNA together with increased TGF-α immunoreactivity in IHPS suggests increased local synthesis of TGF-α by pyloric SMCs, causing pyloric-muscle hypertrophy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003830050554
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  • 4
    Electronic Resource
    Electronic Resource
    Hirschsprung's disease in association with trisomy 21 and duodenal obstruction (1994)
    Springer
    Pediatric surgery international 9 (1994), S. 366-367 
    Details
    ISSN: 1437-9813
    Keywords: Hirschsprung's disease ; Trisomy 21 ; Duodenal obstruction ; Child
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The association of trisomy 21 and Hirschsprung's disease (HD) is well known. In a neonate, HD characteristically presents with delayed passage of meconium and/or intestinal obstruction. However, the presence of duodenal atreasia (DA), which may present similarly, can mask the associated HD. Over an 18-year period, 17 of 135 patients with HD had trisomy 21. Three of these 17 patients presented with duodenal obstruction in the newborn period — 2 had DA and 1 a complete duodenal web. One patient developed a perforation of the jejunum 7 days after laparotomy and duodenoduodenostomy and was found to have HD while the other 2 were later investigated because of persistent unresponsive constipation and confirmed to have HD at 1 and 2 years of age. In spite of associated Down's syndrome and DA, the possibility of HD should be considered in patients who have a complicated postoperative course or persisting abnormal stooling patterns.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01686003
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  • 5
    Electronic Resource
    Electronic Resource
    Neonatal intestinal perforation in Hirschsprung's disease (1994)
    Springer
    Pediatric surgery international 9 (1994), S. 501-502 
    Details
    ISSN: 1437-9813
    Keywords: Hirschsprung's disease ; Intestinal perforation ; Neonate
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Over a period of 18 years, 77 of 135 patients treated for Hirschsprung's disease (HD) presented in the neonatal period. Of these 77 patients, 8 had gastrointestinal (GI) perforations. Seven patients were born at full term and 1 at 32 weeks of gestation. Three patients had associated trisomy 21. The site of perforation included rectum in 1 patient, sigmoid in 1, descending colon in 1, transverse colon in 2, caecum in 2, and jejunum in 1. Perforations occurred in ganglionic bowel in 7 patients and in the aganglionic segment in 1. One patient died in the newborn period of overwhelming sepsis secondary to enterocolitis, and histology of the bowel confirmed HD. In 6 patients HD was confirmed on barium enema and suction rectal biopsy, and they subsequently underwent a definitive pull-through operation. The 1 patient in whom the initial barium enema was normal continued to suffer from constipation until the age of 7 years, when the diagnosis of HD was established. He then underwent a pull-through procedure with no further problems. An association between neonatal intestinal perforation and HD must therefore be recognised to avoid delay in the management.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00179451
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  • 6
    Electronic Resource
    Electronic Resource
    Pathogenesis of infantile hypertrophic pyloric stenosis: recent progress (1998)
    Springer
    Pediatric surgery international 13 (1998), S. 243-252 
    Details
    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
    URL: http://dx.doi.org/10.1007/s003830050308
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  • 7
    Electronic Resource
    Electronic Resource
    Mutations of the endothelin-B receptor and endothelin-3 genes in Hirschsprung's disease (1996)
    Springer
    Pediatric surgery international 12 (1996), S. 19-23 
    Details
    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
    URL: http://dx.doi.org/10.1007/BF01194795
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  • 8
    Electronic Resource
    Electronic Resource
    TheRET proto-oncogene: A challenge to our understanding of disease pathogenesis (1996)
    Springer
    Pediatric surgery international 12 (1996), S. 11-18 
    Details
    ISSN: 1437-9813
    Keywords: RET ; RET proto-oncogene ; Hirschsprung's disease ; Multiple endocrine neoplasia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract RET gene alterations as disease-causative mutations have been demonstrated in five different disease entities: Hirschsprung's disease (HD); papillary thyroid carcinoma; and three types of inherited cancer syndromes: multiple endocrine neoplasia (MEN) 2A, MEN 213, and familial medullary thyroid carcinoma. RET is expressed during embryogenesis in a temporally and spatially regulated manner, and plays an important role in the normal development of a variety of cell lineages, particularly in the establishment of the enteric nervous system.RET mutations observed in patients with HD are scattered along the gene without any hot spots, and possess a loss-of-function effect.RET mutations are detected with a higher incidence among familial cases (50%) than sporadic cases (15%–20%), and are more closely associated with long-segment HD than short-segment disease. In contrast to HD mutations, missense mutations observed in MEN 2 syndromes occur at specific codons, and gene rearrangements are characteristic in papillary thyroid carcinoma. Both missense mutations and gene rearrangements act in a dominant fashion, and cause constitutive phosphorylation on the tyrosine of RET and highly enhance RET kinase activity, leading to transforming or oncogenic activity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01194794
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  • 9
    Electronic Resource
    Electronic Resource
    Active collagen synthesis in infantile hypertrophic pyloric stenosis (1998)
    Springer
    Pediatric surgery international 13 (1998), S. 237-239 
    Details
    ISSN: 1437-9813
    Keywords: Key words Infantile hypertrophic pyloric stenosis ; Procollagen type I extracellular matrix ; Immunohistochemistry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract M-57 antibody, which is capable of distinguishing newly-synthesized type I procollagen from fully-processed, mature collagen, was used to examine the expression of collagen synthesis in hypertrophic pyloric muscle from patients with infantile hypertrophic pyloric stenosis (IHPS). Seven specimens from IHPS patients were removed at the time of operation; age-matched normal pyloric tissue of 5 post-mortem cases was obtained as controls. Immunohistochemistry was performed using antibody of the amino-terminal end of the procollagen type I propeptide (M-57). Newly-synthesized procollagen (M-57) was strongly detected in both the connective tissue septa between circular muscle bundles, and among the circular-muscle fibers in patients with IHPS. No M-57 staining was observed among the circular-muscle fibers in controls. Our findings show that the hypertrophic circular muscle in IHPS is actively synthesizing collagen, and this may be responsible for the characteristic “firm” nature of the pyloric tumor.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003830050306
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  • 10
    Electronic Resource
    Electronic Resource
    The innervation of human bowel mucosa and its alterations in Hirschsprung's disease using a whole-mount preparation technique (2000)
    Springer
    Pediatric surgery international 16 (2000), S. 277-281 
    Details
    ISSN: 1437-9813
    Keywords: Key words Mucosal innervation ; Whole-mount preparation ; Hirschsprung's disease ; Suction rectal biopsy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  The innervation of the human bowel wall and its structural and functional changes in Hirschsprung's disease (HD) are well-recognised. The luminal surface of the bowel acts as a multifunctional barrier, and modifications in its physiochemical properties can result in serious complications such as enterocolitis (EC). The whole-mount preparation (WMP) technique produces a three-dimensional (3D) picture to better demonstrate the neuronal networks and the relationship of branching and interconnecting nerve fibres to each other. The aim of this study was to investigate the innervation of the mucosal layer in normal and HD bowel using a WMP immunohistochemistry technique in order to better understand the pathophysiology of HD. Full-thickness bowel specimens were collected from 9 HD patients at pull-through operation. Normal control small- and large-bowel specimens were collected from 10 patients at the time of bladder augmentation. Suction rectal biopsies from 8 patients with chronic constipation and 2 patients with HD were also included in this study. A WMP of the mucosal layer was made and stained with various neuronal markers (S100, PGP 9.5, and LlCAM) using fluorescein immunohistochemistry. PGP 9.5, S100, and LlCAM immunofluorescence staining of the normal mucosa demonstrated a characteristic 3D meshlike neuronal network of uniform thickness surrounding the crypts. In the aganglionic bowel S100, PGP 9.5, and LlCAM-positive meshlike networks were replaced by thick nerve trunks in the muscosa without any interconnecting network. The present study demonstrates for the first time the 3D morphology of mucosal innervation in normal and aganglionic bowel. The WMP technique clearly demonstrated that the mucosal innervation in HD is morphologically abnormal, and this may adversely influence secretory and absorptive functions of the bowel. WMPs using suction rectal biopsy specimens may be a useful additional technique to diagnose HD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003830050744
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