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  • 1
    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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  • 2
    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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  • 3
    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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  • 4
    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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  • 5
    Electronic Resource
    Electronic Resource
    What are the diagnostic criteria for intestinal neuronal dysplasia? (1995)
    Springer
    Pediatric surgery international 10 (1995), S. 459-464 
    Details
    ISSN: 1437-9813
    Keywords: Intestinal neuronal dysplasia ; Hirschsprung's disease ; Acetylcholinesterase staining ; Diagnostic criteria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The incidence of isolated intestinal neuronal dysplasia (IND) has varied from 0.3% to 62% of all suction rectal biopsies in different centres. The uncertainty regarding the incidence has resulted from the considerable confusion regarding the essential diagnostic criteria. In an attempt to clarify the diagnostic criteria for IND, we examined biopsy material from the following three groups using acetylcholinesterase (AChE) histochemistry: (1) full-thickness normal colon from 23 controls; (2) suction rectal biopsies from 9 patients who had isolated IND; and (3) full-thickness biopsies from 10 patients with Hirschsprung's disease (HD) who demonstrated IND in the proximal margin of the resected segment. Our data show that hyperganglionosis is the most consistent finding in both IND associated with HD and isolated IND. Other histochemical criteria of IND were dependent upon whether the biopsy was full-thickness or a suction rectal biopsy. Where full-thickness biopsies were available, giant ganglia and ectopic ganglion cells were seen in all cases. Increases in AChE-positive nerve fibres in the mucosa was a frequent finding in patients with IND diagnosed by suction rectal biopsies. We recommend that patients suspected to have IND on suction rectal biopsy should have a full-thickness biopsy for detailed examination of the submucous and myenteric plexuses.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00176387
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  • 6
    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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  • 7
    Electronic Resource
    Electronic Resource
    Structural immaturity of the pylorus muscle in infantile hypertrophic pyloric stenosis (2000)
    Springer
    Pediatric surgery international 16 (2000), S. 282-284 
    Details
    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
    URL: http://dx.doi.org/10.1007/s003830050745
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  • 8
    Electronic Resource
    Electronic Resource
    Intercellular adhesion molecule-1 (ICAM-1) in the pathogenesis of enterocolitis complicating Hirschsprung's disease (1994)
    Springer
    Pediatric surgery international 9 (1994), S. 237-241 
    Details
    ISSN: 1437-9813
    Keywords: Hirschsprung's disease ; Enterocolitis ; Intercellular adhesion molecule-1 (ICAM-1)
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Intercellular adhesion molecule-1 (ICAM-1) is a glycoprotein that is necessary for the transendothelial migration of leucocytes. This study was undertaken to elucidate the role of ICAM-1 in the pathophysiology of Hirschsprung's disease (HD)-related enterocolitis. Ganglionic and aganglionic portions of bowel from 18 patients with HD who did not have clinical or histological evidence of enterocolitis and 5 patients with HD who developed enterocolitis before or after a pull-through operation were stained using monoclonal antibody against ICAM-1. The bowel specimens obtained from 2 children with imperforate anus at the time of colostomy closure and 3 children at the time of bladder augmentation were similarly stained to act as controls. The ganglionic portion of bowel from patients with HD without enterocolitis and controls showed either no ICAM-I staining or occasional staining of the endothelial lining of submucosal vessels with no staining of the glandular crypt epithelium. In contrast, both ganglionic and aganglionic bowel from patients with enterocolitis complicating HD demonstrated strong ICAM-1 staining in the endothelium of submucosal vessels. Strong expression of ICAM-1 in the glandular crypt epithelium was seen in only 2 patients who had developed enterocolitis before pull-through operations. This study illustrates the importance of endothelial cell activation in the pathogenesis of HD-related enterocolitis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00832246
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  • 9
    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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  • 10
    Electronic Resource
    Electronic Resource
    Evaluation of risk factors in the development of enterocolitis complicating Hirschsprung's disease (1994)
    Springer
    Pediatric surgery international 9 (1994), S. 234-236 
    Details
    ISSN: 1437-9813
    Keywords: Hirschsprung's disease ; Enterocolitis ; Child
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Enterocolitis remains a major cause of morbidity and mortality in patients with Hirschsprung's disease (HD). Forty-one (30%) of 135 patients treated for HD from 1975 to 1992 developed enterocolitis; enterocolitis occured preoperatively in 25. It was a presenting feature in 17 infants, including 11 neonates. The proportion of patients presenting with enterocolitis in the neonatal period increased with advancing age, 6 (11%) out of 56 presenting within the 1st week and 5 (24%) out of 21 after 1 week. Episodes of enterocolitis continued in 7 of these 25 patients after a pull-through procedure. Sixteen patients had a first episode of enterocolitis after surgery: 3 after a colostomy, and 13 after a pull-through procedure. The incidence of enterocolitis was 28% in patients with rectosigmoid involvement and 38% in patients with long-segment or total colonic aganglionosis (P= 0.1). Enterocolitis occured in 8 (47%) of 17 patients with trisomy 21 as compared to 33 of 118 (28%) other patients (P= 0.1). Four of the 41 patients died as a result of enterocolitis, 3 in the neonatal period after a colostomy performed at a mean age of 22 days, although the symptoms suggestive of HD were present since birth. Prompt diagnosis and expeditious management are necessary in patients with HD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00832245
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