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Colonic Aganglionosis
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1. Long-term outcomes in total colonic aganglionosis: a 32-year experience.
Match Strength: 13.055

BACKGROUND/METHODS: A 32-year retrospective review from 1972 to 2004 analyzed complications and long-term outcomes in children with total colonic aganglionosis (TCA) as they relate to the procedure performed. RESULTS: Thirty-six patients (27 boys, 9 girls) had TCA. The level of aganglionosis was distal ileum (26), mid-small bowel (8), midjejunum (1), and entire bowel (1). Enterostomy was performed in 35 of 36. Eight developed short bowel syndrome. Twenty-nine (81%) had a pull-through at 15 +/- 6 months (modified Duhamel 20, Martin long Duhamel 4, and Soave 5). Six had a Kimura patch. ... Read More »
» Published in J Pediatr Surg. 2005 Jun;40(6):955-61.

2. Hirschsprung's disease in an infant with colonic atresia and normal fixation of the distal colon.
Match Strength: 12.868

The coexistence of colonic atresia and Hirschsprung's disease presents a diagnostic and therapeutic challenge. Colonic atresia is quickly recognized, and the majority of patients are diverted shortly after birth. The diagnosis of coincident Hirschsprung's disease usually is made after anastomotic failure after restoration of intestinal continuity. A recent compilation of these patients has suggested that Hirschsprung's disease may be predicted on the basis of nonfixation of the colon distal to the atresia. However, we recently cared for an infant with transverse colonic atresia and total ... Read More »
» Published in J Pediatr Surg. 2007 Feb;42(2):e5-8.

3. Activation of neural circuitry and Ca2+ waves in longitudinal and circular muscle during CMMCs and the consequences of rectal aganglionosis in mice.
Match Strength: 12.511

In mammals that develop rectal aganglionosis, the aganglionic segment still exhibits spontaneous phasic contractions that contribute to dysmotility and pseudoobstruction in this region. However, almost nothing is known about the mechanisms that generate these myogenic contractions or the effects of aganglionosis on the generation of Ca(2+) waves that underlie contractions of the longitudinal muscle (LM) and circular muscle (CM). In a mouse model of Hirschsprung's disease [endothelin type B receptor-deficient (Ednrb(s-l)/Ednrb(s-l)) mice], the Ca(2+) indicator fluo-4 was used to simultaneously ... Read More »
» Published in Am J Physiol Gastrointest Liver Physiol. 2007 Feb;292(2):G546-55. Epub 2006 Oct 5.

4. Definitive treatment of extended Hirschsprung's disease or total colonic form.
Match Strength: 11.492

BACKGROUND: Between December 1990 and March 1999, five laparoscopic Duhamel pull-through procedures for extended or total aganglionosis were performed in our department, one of which had a rectosigmoid form with a short bowel and a colonic resection due to a volvulus. METHODS: The aim of this study was to show that even when the extended form of Hirschprung's disease or anatomic difficulties such as a short bowel and anterior colonic resection are encountered, the laparoscopic approach is possible and total colectomy is feasible. The procedure has been described previously. We used one camera ... Read More »
» Published in Surg Endosc. 2001 Nov;15(11):1301-4. Epub 2001 Sep 4.

5. Surgery for right-sided colonic diverticulitis: results of a 10-year-observation period.
Match Strength: 10.854

INTRODUCTION: In contrast to sigmoid diverticular disease, right colonic diverticulitis is a rare disease in Western countries. The clinical presentation is often similar to acute appendicitis. OBJECTIVE: The aim of this study was to analyze surgical challenge in right-sided diverticulitis. MATERIALS AND METHODS: All patients who underwent resection for both right-sided and sigmoid diverticular disease were registered prospectively in a database (observation period, 1996-2005). A retrospective analysis of all patients who underwent resection for right-sided colonic diverticulitis (ileocolic ... Read More »
» Published in Langenbecks Arch Surg. 2006 Oct 28;

6. Postoperative obstructive symptoms are common after Rehbein's procedure for Hirschsprung's disease.
Match Strength: 10.435

Rehbein's procedure for Hirschsprung's disease has been questioned because several centimetres of aganglionic bowel are left behind, considered to result in obstructive symptoms. However, the reported outcome is similar to that after operations with other techniques. The purpose of this study was to review our experience of Rehbein's procedure during an 8-year period, focusing particularly on obstructive symptoms. We retrospectively studied 44 patients operated with Rehbein's procedure for biopsy-verified Hirschsprung's disease from October 1993 to October 2001. Three patients with total ... Read More »
» Published in Eur J Pediatr Surg. 2006 Apr;16(2):100-3.

7. Is Preserving the Entire Aganglionic Colon Reasonable in the Surgical Treatment of Total Colonic Aganglionosis?
Match Strength: 9.849

Clinical reports describe an increased incidence of severe enterocolitis in infants with total colonic aganglionosis (TCA) following the Martin extended Duhamel procedure using the entire aganglionic colon. This study evaluates the efficacy of this procedure in an experimental model of TCA in comparison with an antimesenteric aganglionic colon patch in rats. TCA was produced by serosal application of 0.1% benzalkonium chloride in 18 Sprague-Dawley rats (250 g). Five additional rats served as operated controls. Ileoanal pull-through was performed in 18 TCA rats, in conjunction with the Martin ... Read More »
» Published in J Pediatr Surg. 1987 Jul;22(7):623-7.

8. Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation.
Match Strength: 9.768

Hirschsprung's disease (HSCR) is characterized by the absence of intramural ganglion cells in the distal gut, resulting in bowel obstruction shortly after birth. Congenital central hypoventilation syndrome (CCHS) results in hypoventilation, most pronounced during sleep, with relative insensitivity to hypercarbia and reduced insensitivity to hypoxia. Congenital central hypoventilation syndrome with HSCR is a rare condition with variable severity. Both CCHS and HSCR are uncommon and their co-occurrence may suggest a common etiology, probably involving a fault of neural crest development. Recent ... Read More »
» Published in J Pediatr Surg. 2007 Feb;42(2):e9-11.

9. Histopathological and immunohistochemical study of the enteric innervations among various types of aganglionoses including isolated and syndromic Hirschsprung disease.
Match Strength: 9.147

We investigated enteric innervations in 15 isolated and five syndromic cases of Hirschsprung disease (HSCR) with immunohistochemistry for the S100 protein (S100), class III a-tubulin (TUJ1), peripherin, neuronal nitric oxide synthase (nNOS) and CD34. The number of neurites per smooth muscle unit of the circular muscle layer (CML) was counted in the longitudinal sections. TUJ1 was the best marker to detect whole neuritic networks of the enteric nervous system. There were differences in the innervation patterns between isolated rectosigmoid aganglionosis (RS) and long segment aganglionosis (LS) ... Read More »
» Published in Neuropathology. 2006 Feb;26(1):8-23.

10. A New Method of Transanal Catheter Fixation for Neonates with Long Segment-Type Hirschsprung's Disease.
Match Strength: 8.687

We managed long-segment aganglionosis in two neonates by performing colonic irrigation through an indwelling transanal catheter for 65 and 30 days, respectively, until a laparoscopy-assisted primary pull-through operation could be performed. The catheter was fixed by tying it to the tubes, criss-crossed at the anus, and securing the opposite ends of the tubes away from the diaper. This form of management with our devised method of transanal catheter fixation and simple frequent tube washouts improved the preoperative quality of life of both the babies and their parents remarkably ... Read More »
» Published in Surg Today. 2007;37(2):180-2. Epub 2007 Jan 25.

11. Dynamic changes in the proximal gut neural crest stem cell population are associated with successful development of the distal enteric nervous system in rats.
Match Strength: 8.614

Loss of signaling through the endothelin-B receptor (ET(B)) leads to failure of vagal neural crest (NC) cell colonization of the developing gut and causes congenital distal intestinal aganglionosis [Hirschsprung disease (HSCR)] in humans and other mammals. Several studies suggest that cell-cell interactions and the number of NC cells behind the wavefront may play an important role in successful gut colonization. We compared the number and progression of enteric nervous system stem cells in the wild-type (WT) and HSCR rat gut using whole-mount immunohistochemistry for p75, culture and isolation ... Read More »
» Published in Pediatr Res. 2005 Oct;58(4):636-43.

12. Recurrent severe gastrointestinal bleeding and malabsorption due to extensive habitual megacolon.
Match Strength: 8.227

Dilatation of the colon and the rectum, which is not attributable to aganglionosis, is a rare finding and can be the result of intractable chronic constipation. We report a rare case of a 29-year-old male patient with impressive megacolon, in whom Hirschsprung's or Chagas disease was ruled out. In the present case, dilatation of the colon was most likely due to a behavioral disorder with habitual failure of defecation. Chronic stool retention led to a bizarre bulging of the large bowel with displacement of the other abdominal organs and severe occult blood loss. Because of two episodes of life ... Read More »
» Published in World J Gastroenterol. 2005 Dec 28;11(48):7686-7.

13. Hirschsprung's disease, a rare precipitating factor in neonatal perforated Meckel's diverticulum.
Match Strength: 8.201

Perforation of Meckel's diverticulum (MD) during the neonatal period may occur in the presence of distal colon obstruction. Herein, we describe a unique case of a 2-day-old infant that presented with pneumoperitoneum, in which a perforated MD was induced by distal intestinal obstruction secondary to total colonic aganglionosis. In the setting of neonatal perforated MD found intraoperatively, the determination of the possible precipitating etiology is necessary. The clinical history of delayed passage of meconium is emphasized, and either a rectal or colon biopsy is recommended intraoperatively ... Read More »
» Published in J Pediatr Surg. 2006 Jul;41(7):1319-21.

14. Clinicopathological features in 102 cases of Hirschsprung disease.
Match Strength: 7.623

BACKGROUND: Hirschsprung disease [HD] is a predominantly childhood disorder of intestinal motility with a multifactorial and polygenic etiology. The objective of this study was to document the clinical and pathological features of HD in Kuwait, which has an estimated consanguinity rate of 54%. METHODS: We analyzed all rectal and colonic biopsies (n=268) for suspected HD identified from the records in the Pathology Department of Al-Sabah Hospital for the period between 1994 and 2004. RESULTS: One hundred and two patients (87 males and 15 females) had histologically confirmed HD. Fifty-eight (57 ... Read More »
» Published in Ann Saudi Med. 2006 May-Jun;26(3):200-4.

15. Long-term results of bowel function after treatment for Hirschsprung's disease: a 29-year review.
Match Strength: 7.576

Although various surgical procedures have been described to treat Hirschsprung's disease (HD), few studies have evaluated the long-term results of these children. The purpose of this study was to assess the long-term clinical outcome and bowel function of patients with HD. The hospital records of 259 consecutive patients with a confirmed histological diagnosis of HD during 1975-2003 were examined. Data was assessed for age at presentation, sex, clinical presentation, associated anomalies, level of aganglionosis, surgical procedures, complications and bowel function. Follow up was carried out ... Read More »
» Published in Pediatr Surg Int. 2006 Dec;22(12):987-90.

16. Interstitial cells of Cajal in the normal gut and in intestinal motility disorders of childhood.
Match Strength: 7.250

Interstitial cells of Cajal (ICCs) are pacemaker cells which are densely distributed throughout the whole gastrointestinal tract. ICCs have important functions in neurotransmission, generation of slow waves and regulation of mechanical activities in the gastrointestinal tract, especially for the coordinated gastrointestinal peristalsis. Therefore, a loss of ICCs could result in gastrointestinal motor dysfunction. In recent years c-kit labeling has been widely used to study pathological changes of ICCs in gastrointestinal motility disorders. Paediatric gastrointestinal motility disorders such ... Read More »
» Published in Pediatr Surg Int. 2007 Dec;23(12):1139-52.

17. The identification of ganglion cells in Hirschsprung disease by the immunohistochemical detection of ret oncoprotein.
Match Strength: 7.176

The absence of ganglion cells (GCs) is the primary anatomic abnormality in Hirschsprung disease. Light microscopy is the mainstay in establishing this diagnosis. However, establishing a condition of aganglionosis may be challenging on routine H&E-stained sections of colonic biopsies and resections. We studied the identification of GCs by retinoblastoma oncoprotein (ret) immunoreactivity and routine H&E light microscopy by evaluating 53 blocks from 34 patients demonstrating GCs on original H&E-stained sections and 55 blocks from 38 patients lacking GCs on original H&E-stained sections. All ... Read More »
» Published in Am J Clin Pathol. 2006 Jul;126(1):49-54. Comment in: Am J Clin Pathol. 2006 Nov;126(5):816; author reply 816.

18. Pathophysiological role of the cholinergic and adrenergic nerves in patients with allied disorders of Hirschsprung's disease (intestinal neuronal dysplasia and hypoganglionosis)--an in vitro experiment.
Match Strength: 7.011

BACKGROUND/AIMS: There are no reports about the pathophysiological roles of cholinergic and adrenergic nerves in the intestines of patients with allied disorders of Hirschsprung's disease (HD) such as intestinal neural dysplasia (IND) and hypoganglionosis (Hypo). To clarify the significance of the cholinergic and adrenergic nerves in Hypo and IND, we investigated enteric nerve responses to acetylcholine (Ach) and noradrenaline (NA) in colonic tissues obtained from patients with these diseases. METHODOLOGY: Colonic tissue specimens were obtained from 8 patients with HD (aganglionosis; 4 boys ... Read More »
» Published in Hepatogastroenterology. 2007 Apr-May;54(75):725-8.

19. Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease.
Match Strength: 6.785

Homozygous mutations of EDNRB in human have been reported to result in Waardenburg-Hirschsprung disease (WS4), while mutated heterozygotes manifested isolated Hirschsprung disease in lower penetrance. We investigated a case of WS4 together with all members of her nuclear family for the alteration of the EDNRB gene by using PCR-SSCP and direct sequencing technique. The index patient, who was born to a family with no history of Hirschsprung disease, presented total colonic aganglionosis with small bowel extension, sensorineural hearing loss and generalized cutaneous pigmentary defects. ... Read More »
» Published in Pediatr Surg Int. 2005 Dec;21(12):960-3. Epub 2005 Oct 20.

20. Redo-endorectal pull through following various pull through procedures in Hirschsprung's disease.
Match Strength: 6.560

BACKGROUND: The purpose of this study was to analyse the outcome of redo-endorectal pull through in Hirschsprung's disease following different original pull through procedures. In the past, redo-endorectal pull through was mainly performed following endorectal pull through, but not following the Duhamel procedure. We present the outcome of eight patients after redo-endorectal pull through, including five who underwent Duhamel pull through as original procedure. MATERIALS AND METHODS: Between 2002 and 2004, eight patients underwent redo-endorectal pull through following the Duhamel procedure ... Read More »
» Published in Langenbecks Arch Surg. 2008 Jan 3

21. Hirschsprung's disease in the newborn: experience in Zaria, Nigeria.
Match Strength: 6.418

In a 10-year retrospective review of 15 newborns aged < or = 42 days presenting with Hirschsprung's disease, there were 12 boys and three girls aged 4-42 days (median 18 days). Twelve babies presented with complete intestinal obstruction. In 12 babies, there was a history of delayed passage of meconium (after 2-6 days). One baby each developed caecal and sigmoid perforation. Barium enemas in three babies without complete intestinal obstruction suggested Hirschsprung's disease in two. Following resuscitation, the two infants who had perforated had caecostomy and sigmoid repair with right ... Read More »
» Published in Ann Trop Paediatr. 2001 Dec;21(4):339-42.

22. Hirschsprung's disease: 13 years' experience in 112 patients from a single institution.
Match Strength: 6.218

Although Hirschsprung's disease is curable, a low mortality and a certain morbidity have been described by several authors. We will present our experience with the treatment of Hirschsprung's disease at Gaslini Children's Hospital. All patients who underwent a pull-through procedure since January 1993 were included. Data were obtained from a comprehensive questionnaire and from the revision of the notes. The results were subsequently described and compared with regard to age and length of aganglionosis. A total of 151 patients underwent a pull-through. One hundred and twelve of these patients ... Read More »
» Published in Pediatr Surg Int. 2008 Feb;24(2):175-82. Epub 2007 Dec 1.

23. Evaluation of the NK2 Homeobox 1 Gene (NKX2-1) as a Hirschsprung's Disease Locus.
Match Strength: 5.890

Hirschsprung's disease (HSCR, colonic aganglionosis) is an oligogenic entity that usually requires mutations in RET and other interacting loci. Decreased levels of RET expression may lead to the manifestation of HSCR. We previously showed that RET transcription was decreased due to alteration of the NKX2-1 binding site by two HSCR-associated RET promoter single nucleotide polymorphisms (SNPs). This prompted us to investigate whether DNA alterations in NKX2-1 could play a role in HSCR by affecting the RET-regulatory properties of the NKX2-1 protein. Our initial study on 86 Chinese HSCR patients ... Read More »
» Published in Ann Hum Genet. 2007 Dec 12

24. Pouch-anal anastomosis vs straight ileoanal anastomosis in pediatric patients: a meta-analysis.
Match Strength: 5.794

BACKGROUND: Restorative proctocolectomy is the treatment of choice for pediatric patients with refractory colitis, inherited polyposis syndromes, and some with colonic aganglionosis. Evidence concerning the optimal method of reconstruction is, however, sparse. METHODS: Studies comparing outcomes from ileal pouch-anal anastomosis (IPAA) and straight ileoanal anastomosis (SIAA) were identified by searching Medline, Ovid, and Embase. Suitable studies were selected and data extracted for meta-analysis. RESULTS: Of 13 studies identified by literature search, 5 satisfied the inclusion criteria, ... Read More »
» Published in J Pediatr Surg. 2006 Nov;41(11):1799-808.

25. The risk of medullary thyroid carcinoma in patients with Hirschsprung's disease.
Match Strength: 5.684

Hirschsprung's disease (HD) can be associated with the development of neuroendocrine tumours such as medullary thyroid carcinoma (MTC). The RET proto-oncogene is the major gene responsible for both HD and MTC. Mutations in exon 10 (codons 609, 611, 618, 620) were found in patients with co-occurrence of HD and MTC. The aim of the study was to screen the MTC risk in patients with HD. The prospective and retrospective genetic analyses comprised 56 HD patients (41 males, 15 females, aged 0-47). The prospective subgroup of patients consisted of 34 patients (25 boys, 9 girls) operated on between ... Read More »
» Published in Pediatr Surg Int. 2006 Dec;22(12):991-5.

26. Variability of Acetylcholinesterase Hyperinnervation Patterns in Distal Rectal Biopsy Specimens in Hirschsprung Disease.
Match Strength: 5.681

Variability in cholinergic innervation may contribute to false negative and false positive evaluations for Hirschsprung disease (HD). We compared intra-specimen variability of histochemical ACE activity in 62 distal rectal mucosal biopsy specimens from 33 patients with short segment HD (SSHD), 14 patients with short segment HD/ Down syndrome (SSHD/DS), 10 patients with total colonic aganglionosis (HDTC) and 45 ganglionated control specimens obtained because of clinical suspicion for HD. Specimens was evaluated in 1 mm linear segments for abnormal distribution and abnormal intensity of staining ... Read More »
» Published in Pediatr Dev Pathol. 2008 Jan 14;:1

27. Total colectomy and straight ileo-anal soave endorectal pull-through: personal experience with 42 cases.
Match Strength: 5.376

During the period from 1974 to June 2000 we used the straight ileo-anal Soave pull-through to treat 42 patients (24 affected by total colonic aganglionosis [TCA], 10 with ulcerative colitis and 8 with familial polyposis). The aim of this paper is to show that this operation, associated with total colectomy, is highly recommended, causing a lower number of complications when compared to the various "reservoir" techniques.The mean age of the 24 patients with TCA at the time of the pull-through was 2.8 years; in the ulcerative colitis group, it was 14.3 years and in the familial polyposis group ... Read More »
» Published in Eur J Pediatr Surg. 2001 Oct;11(5):319-23.

28. Updated results on intestinal neuronal dysplasia (IND B).
Match Strength: 4.832

BACKGROUND: Intestinal neuronal dysplasia (IND B) is still a subject of controversy. The aim of this paper is to review the present state of knowledge on IND B. A summary is given of the technical and diagnostic criteria which have to be considered in order to arrive at a reliable diagnosis. In addition, the available therapeutic interventions are discussed. METHODS: Between 1992 and 2001, 3984 colonic mucosal biopsies from 1328 children were investigated. Nerve cell staining was performed on native tissue sections: 15 microm thick cryostat sections, which, after spreading and drying on a ... Read More »
» Published in Eur J Pediatr Surg. 2004 Dec;14(6):384-91.

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