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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 -
International Journal of Surgery... Aug 2023The incidence of Hirschsprung disease (HSCR) is nearly 1/5000 and patients with HSCR are usually treated through surgical intervention. Hirschsprung disease-associated... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The incidence of Hirschsprung disease (HSCR) is nearly 1/5000 and patients with HSCR are usually treated through surgical intervention. Hirschsprung disease-associated enterocolitis (HAEC) is a complication of HSCR with the highest morbidity and mortality in patients. The evidence on the risk factors for HAEC remains inconclusive to date.
METHODS
Four English databases and four Chinese databases were searched for relevant studies published until May 2022. The search retrieved 53 relevant studies. The retrieved studies were scored on the Newcastle-Ottawa Scale by three researchers. Revman 5.4 software was employed for data synthesis and analysis. Stata 16 software was employed for sensitivity analysis and bias analysis.
RESULTS
A total of 53 articles were retrieved from the database search, which included 10 012 cases of HSCR and 2310 cases of HAEC. The systematic analysis revealed anastomotic stenosis or fistula [ I2 =66%, risk ratio (RR)=1.90, 95% CI 1.34-2.68, P <0.001], preoperative enterocolitis ( I2 =55%, RR=2.07, 95% CI 1.71-2.51, P <0.001), preoperative malnutrition ( I2 =0%, RR=1.96, 95% CI 1.52-2.53, P <0.001), preoperative respiratory infection or pneumonia ( I2 =0%, RR=2.37, 95% CI 1.91-2.93, P <0.001), postoperative ileus ( I2 =17%, RR=2.41, 95% CI 2.02-2.87, P <0.001), length of ganglionless segment greater than 30 cm ( I2 =0%, RR=3.64, 95% CI 2.43-5.48, P <0.001), preoperative hypoproteinemia ( I2 =0%, RR=1.91, 95% CI 1.44-2.54, P <0.001), and Down syndrome ( I2 =29%, RR=1.65, 95% CI 1.32-2.07, P <0.001) as the risk factors for postoperative HAEC. Short-segment HSCR ( I2 =46%, RR=0.62, 95% CI 0.54-0.71, P <0.001) and transanal operation ( I2 =78%, RR=0.56, 95% CI 0.33-0.96, P =0.03) were revealed as the protective factors against postoperative HAEC. Preoperative malnutrition ( I2 =35 % , RR=5.33, 95% CI 2.68-10.60, P <0.001), preoperative hypoproteinemia ( I2 =20%, RR=4.17, 95% CI 1.91-9.12, P <0.001), preoperative enterocolitis ( I2 =45%, RR=3.51, 95% CI 2.54-4.84, P <0.001), and preoperative respiratory infection or pneumonia ( I2 =0%, RR=7.20, 95% CI 4.00-12.94, P <0.001) were revealed as the risk factors for recurrent HAEC, while short-segment HSCR ( I2 =0%, RR=0.40, 95% CI 0.21-0.76, P =0.005) was revealed as a protective factor against recurrent HAEC.
CONCLUSION
The present review delineated the multiple risk factors for HAEC, which could assist in preventing the development of HAEC.
Topics: Humans; Hirschsprung Disease; Enterocolitis; Risk Factors; Incidence; Morbidity
PubMed: 37288551
DOI: 10.1097/JS9.0000000000000473 -
Journal of Pediatric Surgery Aug 2023Hirschsprung-associated enterocolitis (HAEC) is the most common cause of morbidity and mortality in patients with Hirschsprung disease (HD). The objective of this study... (Review)
Review
BACKGROUND
Hirschsprung-associated enterocolitis (HAEC) is the most common cause of morbidity and mortality in patients with Hirschsprung disease (HD). The objective of this study was to examine the association of social determinants of health (SDOH) with HAEC.
METHODS
A review of patients who underwent primary pull through for HD at our institution from 2014 to 2021 was performed. Clinical, surgical, and SDOH data were collected. HAEC was defined by an international scoring system. Categorical variables were analyzed via Fisher's exact tests and continuous variables with Mood's median tests.
RESULTS
One hundred patients were identified with 29 patients (29%) having at least one episode of HAEC during a median follow-up of 31 months (IQR: 11.7-55.7). Children who utilized public transportation for clinic visits, had one or more missed appointments, had any reported safety concerns, were involved with Child Protective Services, had parents/guardians who were not married, lived with people other than their immediate family, or had mothers who reported drug use or lack of prenatal care were found to have a higher likelihood of developing HAEC (p<0.04 for all). Age at HD diagnosis, age at pull through, operative approach, length of aganglionic colon, and Trisomy 21 were not significant predictors of HAEC.
CONCLUSIONS
In our series of 100 patients undergoing primary pull through, there was a significant correlation of HAEC with several social determinants of health elements while anatomical and clinical factors were not associated with HAEC. Attention to social determinants of health and identifying high-risk patients may serve to prevent morbidity and mortality from HAEC.
LEVEL OF EVIDENCE
III.
Topics: Child; Humans; Infant; Social Determinants of Health; Hirschsprung Disease; Enterocolitis; Down Syndrome; Risk Factors
PubMed: 36371352
DOI: 10.1016/j.jpedsurg.2022.09.039 -
World Journal of Gastroenterology Jun 2023Robotic surgery is a cutting-edge minimally invasive technique that overcomes many shortcomings of laparoscopic techniques, yet few studies have evaluated the use of...
BACKGROUND
Robotic surgery is a cutting-edge minimally invasive technique that overcomes many shortcomings of laparoscopic techniques, yet few studies have evaluated the use of robotic surgery to treat Hirschsprung's disease (HSCR).
AIM
To analyze the feasibility and medium-term outcomes of robotic-assisted proctosigmoidectomy (RAPS) with sphincter- and nerve-sparing surgery in HSCR patients.
METHODS
From July 2015 to January 2022, 156 rectosigmoid HSCR patients were enrolled in this multicenter prospective study. Their sphincters and nerves were spared by dissecting the rectum completely from the pelvic cavity outside the longitudinal muscle of the rectum and then performing transanal Soave pull-through procedures. Surgical outcomes and continence function were analyzed.
RESULTS
No conversions or intraoperative complications occurred. The median age at surgery was 9.50 months, and the length of the removed bowel was 15.50 ± 5.23 cm. The total operation time, console time, and anal traction time were 155.22 ± 16.77, 58.01 ± 7.71, and 45.28 ± 8.15 min. There were 25 complications within 30 d and 48 post-30-d complications. For children aged ≥ 4 years, the bowel function score (BFS) was 17.32 ± 2.63, and 90.91% of patients showed moderate-to-good bowel function. The postoperative fecal continence (POFC) score was 10.95 ± 1.04 at 4 years of age, 11.48 ± 0.72 at 5 years of age, and 11.94 ± 0.81 at 6 years of age, showing a promising annual trend. There were no significant differences in postoperative complications, BFS, and POFC scores related to age at surgery being ≤ 3 mo or > 3 mo.
CONCLUSION
RAPS is a safe and effective alternative for treating HSCR in children of all ages; it offers the advantage of further minimizing damage to sphincters and perirectal nerves and thus providing better continence function.
Topics: Child; Humans; Infant; Child, Preschool; Hirschsprung Disease; Prospective Studies; Robotic Surgical Procedures; Rectum; Postoperative Complications; Treatment Outcome; Digestive System Surgical Procedures
PubMed: 37398887
DOI: 10.3748/wjg.v29.i23.3715 -
Seminars in Pediatric Surgery Apr 2022Harald Hirschsprung presented the first comprehensive and detailed description of clinical outcomes in patients with congenital megacolon. In the century following his...
Harald Hirschsprung presented the first comprehensive and detailed description of clinical outcomes in patients with congenital megacolon. In the century following his discovery, we have seen realization of the etiology, diagnosis, and treatment of Hirschsprung disease. In this article we describe the surgical management of Hirschsprung disease starting with Orvar Swenson, who pioneered the field with the first full thickness transrectal dissection followed by several additional innovative surgeons who have contributed to the modifications that have brought us to the modern surgical management of Hirschsprung Disease.
Topics: Hirschsprung Disease; Humans
PubMed: 35690466
DOI: 10.1016/j.sempedsurg.2022.151174 -
Journal of Pediatric Surgery Sep 2022Despite significant progress in our understanding of the etiology and pathophysiology of Hirschsprung disease (HSCR), early and accurate diagnosis and operative... (Review)
Review
Despite significant progress in our understanding of the etiology and pathophysiology of Hirschsprung disease (HSCR), early and accurate diagnosis and operative management can be challenging. Moreover, long-term morbidity following surgery, including fecal incontinence, constipation, and Hirschsprung-associated enterocolitis (HAEC), remains problematic. Recent advances applying state-of-the art imaging for visualization of the enteric nervous system and utilizing neuronal stem cells to replace the missing enteric neurons and glial cells offer the possibility of a promising new future for patients with HSCR. In this review, we summarize recent research advances that may one day offer novel approaches for the diagnosis and management of this disease.
Topics: Constipation; Enteric Nervous System; Enterocolitis; Fecal Incontinence; Hirschsprung Disease; Humans
PubMed: 34852916
DOI: 10.1016/j.jpedsurg.2021.10.049 -
Clinical and Translational Medicine Feb 2023Hirschsprung's disease (HSCR) is a relatively common congenital disability. Accumulating extracellular matrix (ECM) prompts intestinal fibrosis remodelling in the...
BACKGROUND
Hirschsprung's disease (HSCR) is a relatively common congenital disability. Accumulating extracellular matrix (ECM) prompts intestinal fibrosis remodelling in the aganglionic segments of HSCR. The contributions of various cellular subsets in the fibrogenesis of HSCR segments are poorly understood.
METHODS
Single-cell transcriptomics from 8 aganglionic segments and 5 normal segments of 7 HSCR subjects and 26 healthy segments of seven healthy donors were analysed. Fibrotic phenotype and alterations were explored using differential expression analysis and single-cell trajectory analysis. Fibrosis-related transcription factors were inferred through single-cell regulatory network inference. Bulk transcriptomic data, proteomic data, immunohistochemistry (IHC) and real-time polymerase chain reaction were used to validate the alterations in the HSCR intestine.
RESULTS
Various collagen, fibronectin and laminin protein-coding genes expression were up-regulated in the stromal and glial cells of the HSCR intestine. The number of fibroblasts and myofibroblasts in the aganglionic segments increased, and more myofibroblasts were activated at an earlier stage in HSCR segments, which infers that there is an intestinal fibrosis phenotype in HSCR segments. The fibrotic regulators POSTN, ANXA1 and HSP70 were highly expressed in the ECM-related cellular subsets in the transitional segments and aganglionic segments. The transcription factor regulatory network revealed that fibrosis-related and megacolon-related NR2F1 in the fibroblasts and glial subsets was up-regulated in the aganglionic segment.
CONCLUSIONS
This work identifies intestinal fibrosis and related regulators in aganglionic segments of HSCR; hence, anti-fibrotic therapy may be considered to prevent HSCR-associated enterocolitis (HAEC), relieve intestinal stricture and improve cell therapy.
Topics: Humans; Hirschsprung Disease; Proteomics; Intestines; Sequence Analysis, RNA
PubMed: 36738110
DOI: 10.1002/ctm2.1193