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Hirschsprung's
Principal
modifications of the Duhamel procedure in the treatment of
Hirschsprung's disease
A
Laparoscopic Pull-Through Operation for Hirschsprung's Disease: Report
of Two Infant Cases
Rectal
biopsy for Hirschsprung's disease: what is the optimum method?
Hirschsprung's
Disease in an Adult Patient with familial Occurrence
Congenital
central hypoventilation syndrome and Hirschsprung's disease
Oncological
implications of RET gene mutations in Hirschsprung's disease
Expression
of endothelin 3 by mesenchymal cells of embryonic mouse caecum
Rectal
biopsy in the investigation of constipation
Long-term functional, manometric, and endosonographic evaluation of patients operated upon with the Duhamel technique
K. Bjørnland (1)(2), T. H. Diseth (1), R. Emblem (1)
(1) Department of Pediatric Surgery, The National Hospital, Oslo, Norway
(2) Department of Pediatric Surgery, Surgery Department B, The National Hospital-Rikshospitalet, Pilestredet, N-0027 Oslo, Norway
Accepted: 16 December 1996
Abstract Long-term functional results, anal endosonography (AES), and anal canal manometry were recorded in 48 patients aged 10 to 24 years (median 18) operated upon with the Duhamel technique for Hirschsprung's disease; 60.4% had perfect fecal control, 31.3% occasional staining and/or gas incontinence, and 8.3% constant fecal soiling, and 10.4% complained of constipation. Compared to normals, the patients had significantly reduced anal canal resting and squeeze pressures. AES visualized scar tissue in both the internal and external anal sphincter. Key words Anal endosonography & #183; Anal manometry & #183; Hirschsprung's disease & #183; Continence
Pediatric Surgery International
ISSN: 0179-0358 (printed version) ISSN: pending (electronic version)
Table of Contents Abstract Volume 13 Issue 2/3 (1998) pp 125-132
Principal modifications of the Duhamel procedure in the treatment of Hirschsprung's disease
Analysis based on results of an international retrospective study of 2,430 patients
P. Vrsansky, D. Bourdelat, R. Pagès Service de Chirurgie Pédiatrique, Hôpital Delafontaine, B.P. 279, 2 rue Pierre Delafontaine, F-93205 Saint-Denis, France
Accepted: 16 May 1997
Abstract In the literature, many articles refer to the DUHAMEL technique or some of its modifications in the treatment of Hirschsprung's disease, however, no complete review of all of them has been published to date. The authors present an analysis of the principal modifications of this technique based on the results of an international retrospective survey that evaluated a series of 2,430 patients as well as data from the literature. The important role of the internal anal sphincter in the physiology of continence is emphasized; understanding its function is an imperative prerequisite for a successful Duhamel procedure. The original technique, which used two crushing Kocher clamps as proposed by Duhamel in 1956, as well as a majority of the modifications with various spur-crushing instruments are no longer in use. At present, surgeons generally use staplers for the colorectal anastomosis.
Abstract Volume 29 Issue 4 (1999) pp 371-374
A Laparoscopic Pull-Through Operation for Hirschsprung's Disease: Report of Two Infant Cases
Ryuichiro Hirose, Yosuke Adachi, Toshio Bandoh, Takanori Yoshida, Koichi Sato, Seigo Kitano Department of Surgery I, Oita Medical University, 1-1 Idaigaoka, Hasama-machi, Oita 879-5593, Japan (
Received for publication on Dec. 12, 1997; accepted on July 7. 1998)
Abstract: We describe herein a primary laparoscopic pull-through procedure that was successfully employed to treat two infants with Hirschsprung's disease. Mobilization of the rectum and sigmoid colon was performed laparoscopically, and the rectal mucosa was removed via a transanal submucosal resection. After inducing the rectal prolapse intussusceptically, the rectum was circumferentially transected, and the mobilized colon was pulled down through the rectal muscle cuff. Resection of the aganglionic bowel and the coloanal anastomosis, using the Soave-Denda method, was performed outside the anus. Both infants had an uneventful postoperative course with early recovery of bowel movement. Our experience demonstrates that this minimally invasive surgical procedure is feasible for young infants, and we believe that Hirschsprung's disease may be a definite indication for laparoscopic surgery.
Pediatr Surg Int (1998) 13: 121-124
Rectal biopsy for Hirschsprung's disease: what is the optimum method?
N. K. Alizai á G. Batcup M. F. Dixon á M. D. Stringer
Department of Paediatric Surgery, Clarendon Wing, Leeds General Infirmary, Leeds LS2 9NS, UK
G. Batcup M.F. Dixon Department of Histopathology, United Leeds Teaching Hospitals Trust, Leeds LS2 9NS, UK
Abstract During a 3-year period, 258 infants and children underwent rectal biopsy to exclude Hirschsprung's disease (HD) and related disorders; 32 (12%) were found to have HD. Major morbidity occurred in 3 (2%) of 148 patients undergoing rectal suction biopsy (RSB) and 22 (13%) of 168 suction biopsies were inadequate for diagnosis. In 102 children over 6 months of age, Storz rectal cup biopsy forceps were used with no significant morbidity and adequate biopsies were obtained in 96% of cases. Open rectal biopsy was performed in 8 patients. The RSB tube is safe and reliable, but attention to technique is important. For children over 6 months of age undergoing rectal biopsy for HD, the Storz rectal cup biopsy forceps yields superior results.
Hirschsprung's Disease in an Adult Patient with familial Occurrence
Toru Nagashima, Fumio Konishi, Tsutomu Sato, Tomoyuki Sato, Shunichi Makino and Kyotaro Kanazawa
Depat. of Surgery, Jichi Medical School Hospital, 3311-1 Yakushiji, Minamikawachi-machi, Kawachi-gun, Tochigi 329-04 Japan
Abstract: Hirschsprung's disease is almost always associated with newborns or infants; how ever, we report herein the unusal case of a 46 year old woman in whom the symptoms of Hirschsprung's emerged in later life.
Publisher: BMJ Publishing Group
Congenital central hypoventilation syndrome and Hirschsprung's disease
ARCHIVES OF DISEASE IN CHILDHOOD, April 1998, vol. 78, no. 4, pp. 316-322(7)
Croaker G.D.H.[1]; Cartmill T.[1]; Cass D.T.[1]; Shi E.[2]; Simpson E.[3]
[1] Royal Alexanda Hospital for Children, Sydney, Australia
[2] Sydney Children's Hospital, Sydney, Australia
[3] Woden Valley Hospital, Canberra, Australia
[*]Dr G D H Croaker, Department of Surgical Research, Royal Alexandra Hospital for Children, Westmead, NSW 2145, Australia.
Abstract:
Five cases of the Hirschsprung's disease-congenital central hypoventilation syndrome (CCHS) association are presented and 41 other published cases reviewed. These children have a distinct pattern of associated features, an equal sex incidence, and a characteristic spectrum of disease severity which suggests that the condition is genetically distinct from other cases of Hirschsprung's disease. While approximately 1.5% of Hirschsprung's disease patients, and 10% of those with total colonic aganglionosis, will have CCHS, up to 50% of CCHS patients will have Hirschsprung's disease. Approximately 20% of CCHS/Hirschsprung patients will also have neuroblastoma or ganglioneuroma, usually multiple. Abnormalities of the eye and autonomic nervous system are also common. The ventilatory abnormality is usually evident on the first day of life. The aganglionosis is also severe, with more than half (59%) of the patients having aganglionosis extending into the small bowel.
Keywords: Hirschsprung's disease; congenital central hypoventilation syndrome; total colonic aganglionosis; neurocristopathy
Language: English Document Type: Original article ISSN: 0003-9888
Publisher: BMJ Publishing Group
Oncological implications of RET gene mutations in Hirschsprung's disease
GUT, October 1998, vol. 43, no. 4, pp. 542-547(6)
Brouwers-Smalbraak G.J.[1]; Sijmons R.H.[2]; Maas S.M.[3]; Hofstra R.M.W.[2]; Tan-Sindhunata G.[2]; Buys C.H.C.M.[2]; Wijburg F.A.[4]; Links T.P.[5]; Zwierstra R.P.[6]; Vermey A.[6]; Aronson D.C.[7]
[1] Clinical Genetics Centre, Utrecht
[2] Department of Medical Genetics, University of Groningen, The Netherlands
[3] Department of Human Genetics, Academic Medical Centre, Amsterdam, The Netherlands
[4] Department of Paediatrics, Emma Children's Hospital, Academic Medical Centre, Amsterdam
[5] Department of Endocrinology, University Hospital, Groningen, The Netherlands
[6] Department of Surgery, University Hospital, Groningen, The Netherlands
[7] Department of Paediatric Surgery, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands
[*]Prof. Dr C H C M Buys, Department of Medical Genetics, University of Groningen, A. Deusinglaan 4, NL-9713 AW Groningen, The Netherlands.
Abstract:
Background Germline mutations of the RET proto-oncogene identical to those found in the tumour predisposition syndrome multiple endocrine neoplasia type 2A (MEN2A), were detected in 2.5-5% of sporadic and familial cases of Hirschsprung's disease. Some patients with Hirschsprung's disease may therefore be exposed to a highly increased risk of tumours. Aims To define clinical use of RET gene testing in Hirschsprung's disease and related patient management from an oncological point of view. Methods Sixty patients with Hirschsprung's disease were screened for RET mutations. In three, MEN2A type RET mutations were detected. Case reports for these three patients are presented. Results and conclusions Only 22 families or sporadic patients with Hirschsprung's disease and MEN2A type RET mutations have been reported. Therefore, it is difficult to predict tumour risk for patients with familial or sporadic Hirschsprung's disease, and their relatives, who carry these mutations. For these mutation carriers, periodic screening for tumours as in MEN2A is advised, but prophylactic thyroidectomy is offered hesitantly. RET gene testing in familial or sporadic Hirschsprung's disease is not recommended at present outside a complete clinical research setting. In combined MEN2A/Hirschsprung's disease families RET gene testing, tumour screening, and prophylactic thyroidectomy are indicated as in MEN2A.
Keywords: DNA analysis; Hirschsprung's disease; multiple endocrine neoplasia type 2A; RET
Language: English Document Type: Original article ISSN: 0017-5749
Publisher: BMJ Publishing Group
Expression of endothelin 3 by mesenchymal cells of embryonic mouse caecum
GUT, February 1999, vol. 44, no. 2, pp. 246-252(7)
Leibl M.A.[1]; Edgar D.H.[1]; Woodward M.N.[2]; Kenny S.E.[2]; Lloyd D.A.[2]; Vaillant C.R.[3]; Ota T.[4]
[1] Department of Human Anatomy and Cell Biology, The University of Liverpool, Ashton Street, Liverpool L69 3GE, UK
[2] Department of Child Health, The University of Liverpool, UK
[3] Department of Veterinary Preclinical Sciences, University of Liverpool, UK
[4] Department of Pathology, Kanazawa Medical University, Ishikawa, Japan
[*]Dr D H Edgar.
Abstract:
Background Mutations in endothelin 3 (EDN3) and endothelin B receptor (EDNRB) genes cause terminal colonic aganglionosis in mice, and mutations in these genes have also been linked to the terminal aganglionosis seen in human Hirschsprung's disease. However, details of EDN3 expression during embryogenesis are lacking, and consequently the cellular mechanism by which EDN3 regulates innervation of the terminal gut is unclear. Aims To localise the expression of EDN3 and EDNRB in the embryonic mouse gut. Methods Expression of EDN3 and EDNRB mRNA was analysed by reverse transcription polymerase chain reaction and in situ hybridisation. Results High levels of EDN3 mRNA expression were restricted to mesenchymal cells of the caecum before and after the arrival of neural crest cells. In contrast, EDNRB expression along the gut displayed a time dependent pattern similar to those of the protein tyrosine kinase ret and the neural crest cell marker PGP9.5. Conclusions Mesenchymal cells of the caecum express high levels of EDN3 mRNA during embryogenesis and hence the production of EDN3 at the caecum is likely to act on neural crest cells as a paracrine factor necessary for subsequent innervation of the terminal gut. Keywords: endothelin 3; embryogenesis; enteric nervous system; neural crest cells; gene expression
Language: English Document Type:
Original article ISSN: 0017-5749
Publisher: BMJ Publishing Group
Rectal biopsy in the investigation of constipation
ARCHIVES OF DISEASE IN CHILDHOOD, September 1998, vol. 79, no. 3, pp. 266-268 (3)
Ghosh A.[1]; Griffiths D.M.[1]
[1] Wessex Regional Centre for Paediatric Surgery, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK
[*]Mr Griffiths. email: mervgrif@rmplc.co.uk
Abstract:
Aims To develop criteria to prevent unnecessary rectal biopsies in constipated children. Methods A retrospective review of 186 rectal biopsies from 141 children, comparing the age at onset of symptoms with the diagnosis of Hirschsprung's disease. Results All of the 17 children with Hirschsprung's disease had the onset of symptoms before the age of 4 weeks. Twenty seven children had delayed passage of meconium (more than 48 hours) of whom 10 had Hirschsprung's disease. Three children with Hirschsprung's disease were referred after the neonatal period (2 months, 11 months, and 3 years) but all had the onset of symptoms before 4 weeks of age. Conclusion If the age at onset of constipation is after the neonatal period, a rectal biopsy is unnecessary.
Keywords: Hirschsprung's disease; constipation; rectal biopsy
Language: English Document Type:
Original article ISSN: 0003-9888