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Journal of Pediatric Surgery Oct 2019Synoptic, or standardized, reporting of surgery and pathology reports has been widely adopted in surgical oncology. Patients with Hirschsprung disease may experience... (Review)
Review
BACKGROUND/PURPOSE
Synoptic, or standardized, reporting of surgery and pathology reports has been widely adopted in surgical oncology. Patients with Hirschsprung disease may experience morbidity related to surgical factors or underlying pathology and often undergo multiple operations. Our aim is to improve the postoperative outcome and care of patients with Hirschsprung disease by proposing a standardized set of data that should be included in every surgery and pathology report.
METHODS
Members of the American Pediatric Surgical Association Hirschsprung Disease Interest Group and experts in pediatric pathology of Hirschsprung disease participated in group discussions, performed literature review and arrived at expert consensus guidelines for surgery and pathology reporting.
RESULTS
The importance of accurate operative and pathologic reports and the implications of inadequate documentation in patients with Hirschsprung disease are discussed and guidelines for standardizing these reports are provided.
CONCLUSIONS
Adherence to the principles of reporting for operations and surgical pathology may improve outcomes for Hirschsprung disease patients and will facilitate identification of correlations among morphology, function, genetics and outcomes, which are required to improve the overall management of these patients.
LEVEL OF EVIDENCE
V.
Topics: Digestive System Surgical Procedures; Enteric Nervous System; Hirschsprung Disease; Humans; Practice Guidelines as Topic
PubMed: 30935730
DOI: 10.1016/j.jpedsurg.2019.03.010 -
Diseases of the Colon and Rectum Jul 1990Hirschsprung's disease in the adolescent and adult is a rare and often misdiagnosed cause of lifelong refractory constipation. Two adolescent and three adult patients... (Review)
Review
Hirschsprung's disease in the adolescent and adult is a rare and often misdiagnosed cause of lifelong refractory constipation. Two adolescent and three adult patients with Hirschsprung's disease treated between 1973 and 1987 at the University of Michigan Medical Center are reported. Each patient presented with chronic constipation requiring enemas, cathartics, and multiple hospital admissions for management. Diagnosis in each case was made with barium enema and full-thickness rectal biopsy. Four patients underwent endorectal pull-through procedures, all with good long-term results. The fifth patient, initially treated with a Duhamel retrorectal pull-through procedure, required reoperation for constipation secondary to a retained rectal septum. Review of 199 cases of adult Hirschsprung's disease enables comparison of the various operative procedures for this disorder with respect to postoperative complications and functional outcomes. Anorectal myectomy with low anterior resection, the Duhamel-Martin procedure, and the Soave endorectal pull-through procedure are the most acceptable methods for surgical management.
Topics: Adolescent; Adult; Anal Canal; Biopsy; Constipation; Enema; Hirschsprung Disease; Humans; Methods; Muscles; Postoperative Complications; Rectum
PubMed: 2193786
DOI: 10.1007/BF02052222 -
Computational Intelligence and... 2022In this paper, we have compared and analyzed the effect of laparoscopic and open surgical treatments in children with congenital megacolon. To address this, a total of...
In this paper, we have compared and analyzed the effect of laparoscopic and open surgical treatments in children with congenital megacolon. To address this, a total of 64 children with congenital megacolon who underwent surgery in the hospital, particularly from April 2014 to December 2020, were selected as the research objects. They were divided into control and observation groups by the random number table method, with 32 cases in each group. The control and observation groups were treated with open surgical and laparoscopic treatments, respectively. The treatment effects of the two groups were compared. The enema time, operation time, blood loss, anal defecation time, and duration of postoperative hospital stay of the observation group were lower than those of the control group. The comparison between the two groups was statistically significant ( < 0.05). There was no significant difference in CRP and WBC between the two groups before surgery ( > 0.05). The CRP level and WBC of the two groups were both increased after operation, the CRP level of the observation group was lower than that of the control group, the difference was statistically significant ( < 0.05), the WBC of the two groups was not statistically significant ( > 0.05). The rate of excellent and good defecation in the observation group on the 7th day after surgery was higher than that in the control group, and the difference was statistically significant ( < 0.05). There was no significant difference in Krickenbeck scores between the two groups before surgery ( > 0.05); 6 months after the surgery, the score of Krickenbeck in both groups increased, and that of the observation group was higher than that of the control group, indicating a difference in the overall score ( < 0.05). The total complication rate within 7 days after surgery in the observation group was lower than that in the control group, and the difference was not statistically significant ( > 0.05). Laparoscopic treatment of congenital megacolon could improve surgical indicators and reduce stress response in children, improve defecation and anal function, reduce the risk of complications, and promote recovery.
Topics: Child; Hirschsprung Disease; Humans; Laparoscopy; Length of Stay; Operative Time; Retrospective Studies
PubMed: 35720885
DOI: 10.1155/2022/2669294 -
Postgraduate Medical Journal Jul 1994
Topics: Adolescent; Barium Sulfate; Chronic Disease; Constipation; Enema; Hirschsprung Disease; Humans; Male; Radiography, Abdominal; Tomography, X-Ray Computed
PubMed: 7937429
DOI: 10.1136/pgmj.70.825.503 -
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 -
International Journal of Colorectal... Nov 2017Diverticulosis and redundant colon are colonic conditions for which underlying pathophysiology, management and prevention are poorly understood. Historical papers...
BACKGROUND
Diverticulosis and redundant colon are colonic conditions for which underlying pathophysiology, management and prevention are poorly understood. Historical papers suggest an inverse relationship between these two conditions. However, no further attempt has been made to validate this relationship. This study set out to assess the correlation between diverticulosis and colonic redundancy.
METHODS
Redundant colon, diverticulosis and patient demographics were recorded during colonoscopy. Multivariate binary logistic regression was performed with redundant colon as the dependent variable and age, gender and diverticulosis as independent variables. Nagelkerke R and a receiver operator curve were calculated to assess goodness of fit and internally validate the multivariate model.
RESULTS
Redundant colon and diverticulosis were diagnosed in 31 and 113 patients, respectively. The probability of redundant colon was increased by female gender odds ratio (OR) 8.4 (95% CI 2.7-26, p = 0.00020) and increasing age OR 1.7 (95% CI 1.1-2.6, p = 0.017). Paradoxically, diverticulosis strongly reduced the probability of redundant colon with OR of 0.12 (95% CI 0.42-0.32, p = 0.000039). The Nagelkerke R for the multivariate model was 0.29 and the area under the curve at ROC analysis was 0.81 (95% CI 0.73-0.90 p-value 3.1 × 10).
CONCLUSIONS
This study found an inverse correlation between redundant colon and diverticulosis, supporting the historical suggestion that the two conditions rarely occur concurrently. The underlying principle for this relationship remains to be found. However, it may contribute to the understanding of the aetiology and pathophysiology of these colonic conditions.
Topics: Adolescent; Adult; Age Factors; Australia; Colon; Colonoscopy; Diverticulosis, Colonic; Female; Humans; Male; Megacolon; Middle Aged; Organ Size; Prospective Studies; ROC Curve; Risk Factors; Sex Factors; Statistics as Topic
PubMed: 28932890
DOI: 10.1007/s00384-017-2894-5 -
Cells Oct 2022Hirschsprung disease (HSCR) is a complex congenital disorder caused by defects in the development of the enteric nervous system (ENS). It is attributed to failures of... (Review)
Review
Hirschsprung disease (HSCR) is a complex congenital disorder caused by defects in the development of the enteric nervous system (ENS). It is attributed to failures of the enteric neural crest stem cells (ENCCs) to proliferate, differentiate and/or migrate, leading to the absence of enteric neurons in the distal colon, resulting in colonic motility dysfunction. Due to the oligogenic nature of the disease, some HSCR conditions could not be phenocopied in animal models. Building the patient-based disease model using human induced pluripotent stem cells (hPSC) has opened up a new opportunity to untangle the unknowns of the disease. The expanding armamentarium of hPSC-based therapies provides needed new tools for developing cell-replacement therapy for HSCR. Here we summarize the recent studies of hPSC-based models of ENS in 2-D and 3-D culture systems. These studies have highlighted how hPSC-based models complement the population-based genetic screens and bioinformatic approaches for the discovery of new HSCR susceptibility genes and provide a human model for the close-to-physiological functional studies. We will also discuss the potential applications of these hPSC-based models in translational medicines and their advantages and limitations. The use of these hPSC-based models for drug discovery or cell replacement therapy likely leads to new treatment strategies for HSCR in the future. Further improvements in incorporating hPSC-based models with the human-mouse chimera model and organ-on-a-chip system for establishing a better disease model of HSCR and for drug discovery will further propel us to success in the development of an efficacious treatment for HSCR.
Topics: Mice; Animals; Humans; Hirschsprung Disease; Organoids; Somatostatin-Secreting Cells; Induced Pluripotent Stem Cells; Pluripotent Stem Cells; Disease Models, Animal
PubMed: 36359824
DOI: 10.3390/cells11213428 -
Journal of Pediatric Surgery Oct 2021Hirschsprung-associated enterocolitis (HAEC) accounts for substantial morbidity and mortality in patients with Hirschsprung disease (HD). The aim of this study was to... (Observational Study)
Observational Study
INTRODUCTION
Hirschsprung-associated enterocolitis (HAEC) accounts for substantial morbidity and mortality in patients with Hirschsprung disease (HD). The aim of this study was to identify incidence of pre- and postoperative HAEC in our consecutive cohort and to identify patient and clinical characteristics that are associated with developing postoperative HAEC and HAEC-free interval.
MATERIAL AND METHODS
A retrospective cohort study was performed with all 146 HD patients treated between 2000 and 2017. Data were retrieved from the medical records. HAEC was defined as presence of clinical signs of bowel inflammation, that required treatment with intravenous antibiotics and admittance to the hospital during at least two days. To identify risk factor for HAEC, patients with and without a history of postoperative HAEC were compared. Kaplan-Meier and Cox-regression were used to assess HAEC free intervals before and after surgery.
RESULTS
Out of 146 patients, 12 patients had pre-operative HAEC (8%) and 31 patients had postoperative HAEC (21%). Median preoperative HAEC free interval was 112 days (IQR 182 days). Length of hospital stay due to readmissions was longer for patients with a history of postoperative HAEC compared to patients without a history of postoperative HAEC (9.5 vs 16 days, U = 1872.5, p = 0.047). Median postoperative HAEC free interval was 226 days. Of the patients who had postoperative HAEC, 66% had their first episode within the first year after surgery and that the incidence of HAEC declined over follow-up.
CONCLUSIONS
HAEC incidence was relatively low in our population. No patient or clinical characteristics were associated with the risk of postoperative HAEC.
Topics: Enterocolitis; Hirschsprung Disease; Humans; Postoperative Complications; Retrospective Studies; Risk Factors
PubMed: 34078551
DOI: 10.1016/j.jpedsurg.2021.04.020 -
Proceedings of the Royal Society of... Aug 1967
Review
Topics: Adolescent; Adult; Female; Humans; Male; Megacolon; Rectal Diseases
PubMed: 5342420
DOI: No ID Found -
Anatomical Record (Hoboken, N.J. : 2007) Oct 2012Hirschsprung's disease (HSCR) is a developmental disorder of the enteric nervous system, which occurs due to the failure of neural crest cells to fully colonize the gut... (Review)
Review
Hirschsprung's disease (HSCR) is a developmental disorder of the enteric nervous system, which occurs due to the failure of neural crest cells to fully colonize the gut during embryonic development. It is characterized by the absence of the enteric ganglia in a variable length of the intestine. Substantial progress has been made in understanding the genetic basis of HSCR with the help of advanced genetic analysis techniques and animal models. More than 11 genes have been found to be involved in the pathogenesis of HSCR. The RET gene is the most important susceptibility gene involved in HSCR with both coding and non- coding sequence mutations. Due to phenotypic diversity and genetic complexity observed in HSCR, mutational analysis has limited practical value in genetic counseling and clinical practice. In this review, we discuss the progress that has been made in understanding the molecular genetics of HSCR and summarize the currently identified genes as well as interactions between pathways and gene-modifying loci in HSCR.
Topics: Animals; Disease Models, Animal; Enteric Nervous System; Ganglia; Genetic Counseling; Genetic Loci; Hirschsprung Disease; Humans; Mutation; Signal Transduction
PubMed: 22815266
DOI: 10.1002/ar.22538