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Journal of Postgraduate Medicine 2000The diagnosis and therapy of Hirschsprung's disease has changed in recent times and a firm diagnosis of the entity can be made pre-operatively by immunohisto-chemistry.... (Review)
Review
The diagnosis and therapy of Hirschsprung's disease has changed in recent times and a firm diagnosis of the entity can be made pre-operatively by immunohisto-chemistry. There has been a recent trend of switching over from the conventional staged surgical procedures to primary pull-through procedures. In this article the newer concepts referring to its aetiology, pathogenesis, and the current technical advancements like stapler anastomosis, laparoscopic assisted pull-through and single one stage operation without colostomy are discussed along with a brief mention of current concepts in intestinal neuronal dysplasia, enterocolitis and total colonic aganglionosis.
Topics: Colonic Diseases; Enterocolitis; Hirschsprung Disease; Humans
PubMed: 10855083
DOI: No ID Found -
Balkan Medical Journal Jan 2021Hirschsprung's disease and sigmoid volvulus can sometimes be seen in the same patient.
BACKGROUND
Hirschsprung's disease and sigmoid volvulus can sometimes be seen in the same patient.
AIMS
To investigate the presence of Hirschsprung's disease in patients with sigmoid volvulus and to discuss the diagnosis and treatment methods.
STUDY DESIGN
Systematic review.
METHODS
This systematic review has been reported in line with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses and the methodological quality of systematic reviews guidelines. The PubMed and Scopus databases were scanned using the keywords "Hirschsprung* volvulus*" and "congenital aganglionic megacolon volvulus*". The reference list of the selected studies was reviewed for cross-checking. Two reviewers independently screened the available literature. Only the Hirschsprung's disease cases involving sigmoid volvulus were included, and cases of patients with volvulus in other sites was excluded. There was no restriction with respect to the publication language and type of writing. The primary outcome was morbidity and mortality.
RESULTS
A total of 31 cases were analyzed in 22 articles; 97% of the patients were under the age of 40, 90% were male. There was a statistically significant difference in the necessity for relaparotomy between patients who were scheduled for sigmoid volvulus therapy with the suspicion of Hirschsprung's disease and patients who were treated without suspicion of Hirschsprung's disease (0% vs 37.5%, p=0.02). While there was no postoperative death in cases with suspected Hirschsprung disease, this mortality rate was 25% in cases without suspicion (p = 0.08).
CONCLUSION
Hirschsprung's disease should be excluded with rectal biopsy if a patient with sigmoid volvulus is under 40 years of age and has complaints of constipation from childhood.
Topics: Adult; Aged, 80 and over; Child; Child, Preschool; Female; Hirschsprung Disease; Humans; Infant; Infant, Newborn; Intestinal Volvulus; Male
PubMed: 32856883
DOI: 10.4274/balkanmedj.galenos.2020.2020.4.131 -
Scientific Reports Dec 2016Heterogeneity in outcome reporting limits identification of gold-standard treatments for Hirschsprung's Disease(HD) and gastroschisis. This review aimed to identify... (Review)
Review
Heterogeneity in outcome reporting limits identification of gold-standard treatments for Hirschsprung's Disease(HD) and gastroschisis. This review aimed to identify which outcomes are currently investigated in HD and gastroschisis research so as to counter this heterogeneity through informing development of a core outcome set(COS). Two systematic reviews were conducted. Studies were eligible for inclusion if they compared surgical interventions for primary treatment of HD in review one, and gastroschisis in review two. Studies available only as abstracts were excluded from analysis of reporting transparency. Thirty-five HD studies were eligible for inclusion in the review, and 74 unique outcomes were investigated. The most commonly investigated was faecal incontinence (32 studies, 91%). Seven of the 28 assessed studies (25%) met all criteria for transparent outcome reporting. Thirty gastroschisis studies were eligible for inclusion in the review, and 62 unique outcomes were investigated. The most commonly investigated was length of stay (24 studies, 80%). None of the assessed studies met all criteria for transparent outcome reporting. This review demonstrates that heterogeneity in outcome reporting and a significant risk of reporting bias exist in HD and gastroschisis research. Development of a COS could counter these problems, and the outcome lists developed from this review could be used in that process.
Topics: Gastroschisis; Hirschsprung Disease; Humans; Outcome Assessment, Health Care; Publication Bias; Reproducibility of Results
PubMed: 27941923
DOI: 10.1038/srep38969 -
Neurogastroenterology and Motility Apr 2019We identified a pedigree over five generations with 49 members, some of whom had chronic megacolon presenting in adolescence or adulthood. We aimed to assess the genetic...
OBJECTIVE
We identified a pedigree over five generations with 49 members, some of whom had chronic megacolon presenting in adolescence or adulthood. We aimed to assess the genetic cause of chronic megacolon through clinical and DNA studies.
DESIGN
After ethical approval and informed consent, family members provided answers to standard bowel disease questionnaires, radiological or surgical records, and DNA (buccal mucosal scraping). Exome DNA sequencing of colon tissue or blood DNA from seven family members with colon or duodenal dilatation, or no megacolon (n = 1) was carried out. Sanger sequencing was performed in 22 additional family members to further evaluate candidate variants. The study focused on genes of potential relevance to enteric nerve (ENS) maturation and Hirschsprung's disease or megacolon, based on the literature (GFRA1, NKX2-1, KIF26A, TPM3, ACTG2, SCN10A, and C17orf107 [CHRNE]) and other genetic variants that co-segregated with megacolon in the six affected family members.
RESULTS
Information was available in all except five members alive at time of study; among 30 members who provided DNA, six had definite megacolon, one megaduodenum, seven significant constipation without bowel dilatation, and 16 normal bowel function by questionnaire. Among genes studied, SEMA3F (g.3:50225360A>G; c1873A>G) was found in 6/6 family members with megacolon. The SEMA3F gene variant was assessed as potentially pathogenic, based on M-CAP in silico prediction. SEMA3F function is associated with genes (KIT and PDGFRB) that impact intestinal pacemaker function.
CONCLUSION
Familial chronic megacolon appears to be associated with SEMA3F, which is associated with genes impacting enteric nerve or pacemaker function.
Topics: Colon; Enteric Nervous System; Female; Hirschsprung Disease; Humans; Male; Megacolon; Membrane Proteins; Nerve Tissue Proteins; Pedigree; Polymorphism, Single Nucleotide; Exome Sequencing
PubMed: 30663199
DOI: 10.1111/nmo.13550 -
Pediatric Surgery International Jan 2022Hirschsprung's associated enterocolitis (HAEC) is a complication of Hirschsprung's Disease (HD) with considerable morbidity and mortality. The variability in...
PURPOSE
Hirschsprung's associated enterocolitis (HAEC) is a complication of Hirschsprung's Disease (HD) with considerable morbidity and mortality. The variability in presentation leads to a wide variety of the reported prevalence pre-and postoperatively. This systematic review aimed to clarify the prevalence of HAEC in short-(S-HD), long (L-HD), TCA and the type of operation used.
METHODS
A systematic literature-based search for relevant cohorts was performed using Pubmed/Medline, Cochrane Library from its inception to May 2021. Studies reporting on pre-and postoperative enterocolitis, segment length, and surgical procedure (Soave, Swenson, Duhamel) were included. Pooled prevalence and subgroup analysis have been calculated for pre-and postoperative HAEC.
RESULTS
4738 articles were identified from the literature search, among which 57 studies, including 9744 preoperative and 8568 postoperative patients, were included. The groups were sorted by length of the aganglionic segment for further analysis. The pooled prevalence for preoperative HAEC was 18.3% for all types, 15.2% for S-HD and 26.1% for TCA. The pooled prevalence for postoperative HAEC was in total 18.2% for all segment lengths and used techniques. Subgroup analysis showed no significant difference in the occurrence of postoperative enterocolitis between the three techniques.
CONCLUSION
The prevalence of preoperative HAEC increases with segment length. However, pooled data suggest that the postoperative risk for developing HAEC, independently of the employed method and segment length, is comparable to the preoperative risk.
Topics: Enterocolitis; Hirschsprung Disease; Humans; Infant; Morbidity; Postoperative Complications; Postoperative Period; Prevalence
PubMed: 34595554
DOI: 10.1007/s00383-021-05020-y -
Genetics and Molecular Research : GMR Aug 2015We studied the survival and gene expression of glial cell line-derived neurotrophic factor (GDNF) and GDNF receptor α-1 (GFRα-1) double-genetically modified rat bone...
We studied the survival and gene expression of glial cell line-derived neurotrophic factor (GDNF) and GDNF receptor α-1 (GFRα-1) double-genetically modified rat bone marrow mesenchymal stem cells (BMSCs) transplanted into the intestinal walls of the rat models with congenital megacolon and determine the feasibility of treatment by transplantation of double-genetically modified rat BMSCs. The rat colorectal intestinal wall nerve plexus was treated with the cationic surface active agent benzalkonium chloride to establish an experimental megacolon model. The rat target genes GDNF and GFRα-1 were extracted and ligated into pEGFP-N1. Eukaryotic fluorescent expression vectors carrying the GDNF and GFRα-1 genes were transfected into BMSCs by in vitro culture. We treated congenital megacolon by transplanting double-genetically modified rat bone marrow mesenchymal stem cells. The pEGFP-EGFP-GDNF-GFRα-1 double-gene co-expressing the eukaryotic expression plasmid vector was successfully established. Protein gene protein 9.5 and vasoactive intestinal peptide-positive ganglion cells showed no positive expression in the phosphate-buffered saline transplantation group based on an immunofluorescence test at 1, 2, and 4 weeks after transplantation of BMSCs. Additionally, compared with the phosphate-buffered saline transplantation group, the expression of rearranged during transfection, GDNF, and GFRα-1 mRNA in the stem cell transplantation group increased gradually. The double-genetically modified BMSCs colonized and survived in the intestinal wall of the experimental megacolon rat model and expressed related genes, partially recovering the colonic neuromuscular regulatory functions and thus providing an experimental basis for treating congenital megacolon by cellular transplantation.
Topics: Animals; Cells, Cultured; Disease Models, Animal; Gene Expression; Genetic Vectors; Glial Cell Line-Derived Neurotrophic Factor; Glial Cell Line-Derived Neurotrophic Factor Receptors; Hirschsprung Disease; Male; Mesenchymal Stem Cell Transplantation; Mesenchymal Stem Cells; Rats
PubMed: 26345878
DOI: 10.4238/2015.August.14.8 -
Postgraduate Medical Journal Mar 1967
Topics: Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Megacolon
PubMed: 6037726
DOI: 10.1136/pgmj.43.497.135 -
Marquette Medical Review Jul 1947
Topics: Colon; Dilatation; Hirschsprung Disease
PubMed: 20248370
DOI: No ID Found -
The Practitioner Jun 1946
Topics: Colon; Dilatation; Hirschsprung Disease
PubMed: 20985032
DOI: No ID Found -
Archives of Disease in Childhood Apr 1965
Topics: Diagnosis, Differential; Hirschsprung Disease; Humans; Infant; Megacolon; Pathology; Radiography; Surgical Procedures, Operative
PubMed: 14282858
DOI: 10.1136/adc.40.210.177