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The Surgical Clinics of North America Oct 2022Anorectal malformations (ARM) and Hirschsprung disease (HD) are managed with placement of normal intestine within the anal sphincter complex. Long-term complications... (Review)
Review
Anorectal malformations (ARM) and Hirschsprung disease (HD) are managed with placement of normal intestine within the anal sphincter complex. Long-term complications specific to ARM include fistula remnants, recurrence, urinary reflux with associated chronic renal insufficiency, sexual dysfunction, and fertility difficulties. Complications specific to HD include enterocolitis, persistent or acquired aganglionosis, and internal sphincter achalasia. ARM and HD patients are both at risk of stricture, bowel dysfunction and incontinence, which can have a severe impact on quality of life. Bowel management strategies should be tailored to the patient's specific category of bowel dysfunction.
Topics: Anal Canal; Anorectal Malformations; Fecal Incontinence; Hirschsprung Disease; Humans; Quality of Life
PubMed: 36209741
DOI: 10.1016/j.suc.2022.07.005 -
American Journal of Clinical Pathology Mar 2023Hirschsprung disease (HD) is a congenital condition defined by the absence of ganglion cells in the distal-most portion of the gastrointestinal tract. Biopsies and... (Review)
Review
OBJECTIVES
Hirschsprung disease (HD) is a congenital condition defined by the absence of ganglion cells in the distal-most portion of the gastrointestinal tract. Biopsies and resections for HD can be adrenaline inducing for the general surgical pathologist because specimens are infrequent; HD is 1 of only a few neuroanatomic diseases that general surgical pathologists diagnose; numerous preanalytic factors (eg, biopsy adequacy, surgeon sampling protocol, processing artifacts) can affect histologic interpretation; and most importantly, the diagnosis has high stakes.
METHODS
We provide a comprehensive overview of the background, relevant clinical procedures, and pathologic assessment of HD. Grossing and frozen section protocols, an algorithmic approach to diagnosis, and histologic pearls and pitfalls are also discussed.
RESULTS
Evaluation and recognition of the features of HD have evolved significantly in the past 2 decades with the discovery of the value of calretinin immunohistochemistry in the late 2000s and the recent development of straightforward and reproducible histologic criteria for identification of the HD transition zone.
CONCLUSIONS
These advancements have substantially improved the pathologist's ability to reliably evaluate for HD. Nonetheless, as with any high-stakes surgical pathology specimen, clear communication with the clinical team is essential.
Topics: Humans; Infant; Hirschsprung Disease; Pathologists; Rectum; Biopsy; Immunohistochemistry; Calbindin 2
PubMed: 36565211
DOI: 10.1093/ajcp/aqac141 -
Neurogastroenterology and Motility Jul 2021Mice with a recessive gene which reduces the number of ganglion cells of the distal colon and rectum and produces megacolon, imitating Hirschsprung disease, are... (Review)
Review
Mice with a recessive gene which reduces the number of ganglion cells of the distal colon and rectum and produces megacolon, imitating Hirschsprung disease, are discussed as a model for integrative control of the large intestinal smooth musculature by the enteric division of the autonomic nervous system (ie, the brain-in-the-gut). Investigative approaches, such as propulsion of artificial pellets in preparations of whole colon in organ baths in vitro and innovative approaches capitalizing on neurogenetic technologies (eg, optogenetics), are considered in view of potential application in the development of novel therapeutic mechanisms to selectively evoke and control gastrointestinal motility patterns, such as the small intestinal digestive motility pattern, interdigestive pattern, and reversed direction of powerful propulsive motility during emesis. This minireview relates to the paper titled: "Motor patterns in the proximal and distal mouse colon which underlie formation and propulsion of feces," appearing in this issue of Neurogastroenterology and Motility.
Topics: Animals; Disease Models, Animal; Gastrointestinal Motility; Hirschsprung Disease; Intestine, Large; Mice
PubMed: 34145934
DOI: 10.1111/nmo.14206 -
Pediatric Surgery International Apr 2016Hirschsprung's disease (HSCR) is a common cause of neonatal bowel obstruction and the approach to diagnosis and surgical treatment is well defined and accepted.... (Review)
Review
Hirschsprung's disease (HSCR) is a common cause of neonatal bowel obstruction and the approach to diagnosis and surgical treatment is well defined and accepted. Hirschsprung's-associated enterocolitis (HAEC) remains a frequent cause of pre-operative and post-operative morbidity and mortality, with unchanged treatment guidelines over multiple decades. Recent advances in our understanding of the genetics underlying HSCR have allowed the development of animal models, some of which recapitulate the HAEC phenotype. These animal models, along with recent translational studies, have implicated multiple facets of mucosal immunity and microbiome dysbiosis in the development of HAEC. Here, we will review the established epidemiology, modes of diagnosis and treatment of HAEC. Furthermore, we will explore emerging concepts in the pathogenesis of this disease; including animal models, alterations in mucosal immunity, dysbiosis of the intestinal microbiome, specific genetic susceptibility, and novel treatment modalities.
Topics: Animals; Disease Models, Animal; Hirschsprung Disease; Humans
PubMed: 26783087
DOI: 10.1007/s00383-016-3862-9 -
Neurogastroenterology and Motility Sep 2023In this prospective cohort study, we evaluated features of "adult-onset megacolon with focal hypoganglionosis."
BACKGROUND
In this prospective cohort study, we evaluated features of "adult-onset megacolon with focal hypoganglionosis."
METHODS
We assessed the radiologic, endoscopic, and histopathologic phenotyping and treatment outcomes of 29 patients between 2017 and 2020. Data from community controls, consisting of 19,948 adults undergoing health screenings, were analyzed to identify risk factors. Experts reviewed clinical features and pathological specimens according to the London Classification for gastrointestinal neuromuscular pathology.
KEY RESULTS
The median age of the patients with adult-onset megacolon with focal hypoganglionosis at symptom onset was 59 years (range, 32.0-74.9 years), with mean symptom onset only 1 year before diagnosis. All patients had focal stenotic regions with proximal bowel dilatation (mean diameter, 78.8 mm; 95% confidence interval [CI], 72-86). The comparison with community controls showed no obvious risk factors. Ten patients underwent surgery, and all exhibited significant hypoganglionosis: 5.4 myenteric ganglion cells/cm (interquartile range [IQR], 3.7-16.4) in the stenotic regions compared to 278 cells/cm (IQR, 190-338) in the proximal and 95 cells/cm (IQR, 45-213) in the distal colon. Hypoganglionosis was associated with CD3+ T cells along the myenteric plexus. Colectomy was associated with significant symptom improvement compared to medical treatment [change in the Global Bowel Satisfaction score, -5.4 points (surgery) vs. -0.3 points (medical treatment); p < 0.001].
CONCLUSIONS AND INFERENCES
Adult-onset megacolon with focal hypoganglionosis has distinct features characterized by hypoganglionosis due to inflammation. Bowel resection appears to benefit these patients.
Topics: Humans; Adult; Middle Aged; Aged; Prospective Studies; Megacolon; Colon; Myenteric Plexus; Colectomy
PubMed: 37392417
DOI: 10.1111/nmo.14630 -
Digestive Diseases and Sciences Oct 2019Chronic megacolon is rarely encountered in clinical practice beyond infancy or early childhood. Most cases are sporadic, and some are familial megacolon and present... (Review)
Review
OBJECTIVE
Chronic megacolon is rarely encountered in clinical practice beyond infancy or early childhood. Most cases are sporadic, and some are familial megacolon and present during adolescence or adulthood. There is a need for diagnostic criteria and identifying genetic variants reported in non-Hirschsprung's megacolon.
METHODS
PubMed search was conducted using specific key words.
RESULTS
This article reviews the clinical manifestations, current diagnostic criteria, and intraluminal measurements of colonic compliance to confirm the diagnosis when the radiological imaging is not conclusive. Normal ranges of colonic compliance at 20, 30, and 44 mmHg distension are provided. The diverse genetic associations with chronic acquired megacolon beyond childhood are reviewed, including the potential association of SEMA3F gene in a family with megacolon.
CONCLUSIONS
Measuring colonic compliance could be standardized and simplified by measuring volume at 20, 30, and 44 mmHg distension to identify megacolon when radiology is inconclusive. Diverse genetic associations with chronic acquired megacolon beyond childhood have been identified.
Topics: Adolescent; Adult; Genetic Predisposition to Disease; Humans; Megacolon
PubMed: 30953226
DOI: 10.1007/s10620-019-05605-7 -
Radiography (London, England : 1995) May 2021Toxic megacolon is a rare but life-threatening condition. Diagnosis is made when both systemic toxicity and an enlarged colon are present. We undertook a systematic... (Review)
Review
INTRODUCTION
Toxic megacolon is a rare but life-threatening condition. Diagnosis is made when both systemic toxicity and an enlarged colon are present. We undertook a systematic review of the literature to provide a list of toxic megacolon findings on computed tomography (CT) imaging along with the prevalence rate for each finding.
METHODS
PubMed, Embase, and Cochrane library were searched. After eligibility screening and quality assessment, the reported CT findings of toxic megacolon with their respective prevalence rates were extracted from the included studies. Pooled prevalence rates were calculated for each finding using random-effects model and inverse variance method. I statistics were used to estimate the heterogeneity. All statistical analyses were performed using R software. P-values less than 0.05 were considered significant.
RESULTS
Database search yielded a total of 122 records. Only 2 of these studies were finally selected following two-step eligibility screening. Most common CT features of toxic megacolon and their pooled prevalence rates [95% CI] were: colonic distension (reported in 100% of patients), abnormal haustration 96% [0.75-0.99], peri-colonic fat stranding 87% [0.29-0.99], nodular pseudo polyps 76% [0.52-0.91], multilayered appearance of colonic wall 58% [0.38-0.76], and ascites 57% [0.21-0.87]. Other reported CT features: colonic wall thickening, pleural effusion, accordion sign, small bowel/gastric distension, and segmental colonic wall thinning.
CONCLUSION
and implication for practice: Colonic distension can be accompanied by 10 other findings in CT images of patients with toxic megacolon. Although these findings are not specific, toxic megacolon should be included in the list of differential diagnoses when these findings are present.
Topics: Diagnosis, Differential; Humans; Megacolon, Toxic; Tomography, X-Ray Computed
PubMed: 33189537
DOI: 10.1016/j.radi.2020.10.019 -
Georgian Medical News Feb 2022Aim - based on the clincal experience of monitoring and treatment of teenagers with Hirschsprung's disease (HD), to study clinical aspects of the disease in older...
Aim - based on the clincal experience of monitoring and treatment of teenagers with Hirschsprung's disease (HD), to study clinical aspects of the disease in older children and to establish an adequate diagnostic and treatment policy. The paper is based on the analysis of the results of examination and treatment of 26 children with Hirschsprung's disease, who were first diagnosed with the disease at the age of 10 years and older. There were 19 (73.08%) boys and 7 (26.92%) girls. The following diagnostic methods were used: X-ray examination of the large intestine, ultrasonography of the abdominal organs and the large intestine, rectosigmoidoscopy, morphological examination of biopsy material, immunohistological examination for acetylcholinesterase (AChE). Nonparametric statistical methods were used due to the small sample and the prevalence of the analysis of qualitative rather than quantitative criteria. Hirschsprung's disease in older children has a latent course with long periods of functional compensation. The rectal form of pathology predominates (57.69%). The main diagnostic methods are anamnesis, features of the clinical course of the pathology, irrigoscopy, morphological examination of full-thickness rectal biopsies and immunohistochemical examination of the rectal mucosa for AChE. 84,62% of teenagers underwent one-stage surgery without postoperative complications; 15,38% of patients had indications for colostomy.
Topics: Acetylcholinesterase; Adolescent; Biopsy; Child; Female; Hirschsprung Disease; Humans; Male; Postoperative Complications; Rectum
PubMed: 35271479
DOI: No ID Found -
BMJ Case Reports Jan 2018
Topics: Abdominal Pain; Aged; Air; Back Pain; Chest Pain; Diagnosis, Differential; Diverticulitis; Female; Humans; Male; Megacolon, Toxic; Middle Aged; Pneumoperitoneum; Retropharyngeal Abscess; Tomography, X-Ray Computed
PubMed: 29326374
DOI: 10.1136/bcr-2017-223081 -
Seminars in Pediatric Surgery Oct 2017Hirschsprung disease is a developmental defect of the enteric nervous system characterized by lack of enteric neurons in the distal hindgut. There are numerous reports... (Review)
Review
Hirschsprung disease is a developmental defect of the enteric nervous system characterized by lack of enteric neurons in the distal hindgut. There are numerous reports on short-term outcomes indicating that impaired bowel function is common. Recently, several controlled studies show that bowel function outcomes are affected beyond childhood, in adolescents and adults, compared with healthy control subjects. Constipation and fecal incontinence are common. The impaired bowel function appears to have a negative impact on quality of life, although, a majority of patients have adapted to their symptoms. On the other hand, Hirschsprung disease seems to have limited impact on education and occupation in adult life. The aim of this review was to summarize current knowledge of bowel function outcome beyond childhood in patients with Hirschsprung disease.
Topics: Adolescent; Adult; Constipation; Fecal Incontinence; Hirschsprung Disease; Humans; Intestines; Quality of Life
PubMed: 29110829
DOI: 10.1053/j.sempedsurg.2017.09.008