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Journal of Pediatric Surgery Mar 2022Little is known about psychosocial and behavioral factors that impact the quality of life of patient's with anorectal malformations (ARM) and Hirschsprung disease... (Review)
Review
INTRODUCTION
Little is known about psychosocial and behavioral factors that impact the quality of life of patient's with anorectal malformations (ARM) and Hirschsprung disease (HSCR). We aimed to highlight the psychosocial, emotional, and behavioral themes that affect these patients.
METHODS
A qualitative literature review of articles published between 1980 and 2019 was performed. Articles that reported quality of life (QoL) measures not directly related to bowel function and incorporated data on patients aged 0-21 years old were included. Data were separated based on distinct developmental time points.
RESULTS
In the neonatal period, parents relayed uncertainty about the future and feeling overwhelmed by lack of social support. Difficulties with anxiety, peer rejection, and behavioral problems were noted in primary grades, while adolescents experienced low self-confidence, poor body image, and depression. Young adults expressed hesitancy to engage in romantic relationships or sexual activity. Lack of long-term follow-up, an incomplete transition to adult healthcare, and lack of psychology services leave young adults without guidance to manage a chronic condition.
CONCLUSION
Multiple psychosocial stressors are present in the lives of ARM and HSCR patients. Provision of developmentally matched medical, psychological, and community-based supports for ARM and HSCR patients and their families can lead to improved QoL.
Topics: Adolescent; Adult; Anorectal Malformations; Child; Child, Preschool; Hirschsprung Disease; Humans; Infant; Infant, Newborn; Parents; Quality of Life; Social Support; Young Adult
PubMed: 34127258
DOI: 10.1016/j.jpedsurg.2021.05.004 -
Neurogastroenterology and Motility Nov 2021A significant proportion of children experience bowel dysfunction (including constipation and fecal incontinence) following surgical repair of Hirschsprung disease (HD)....
BACKGROUND
A significant proportion of children experience bowel dysfunction (including constipation and fecal incontinence) following surgical repair of Hirschsprung disease (HD). Persistent symptoms are thought to relate to underlying colonic and/or anorectal dysmotility. Manometry may be used to investigate the gastrointestinal motility patterns of this population.
PURPOSE
To (1) evaluate the colonic manometry equipment and protocols used in the assessment of the post-operative HD population and (2) summarize the available evidence regarding colonic motility patterns in children with HD following surgical repair.
DATA SOURCES
We performed a systematic review of the Cochrane Library, Embase, MEDLINE, and PubMed databases (January 1, 1980 and March 9, 2020). Data were extracted independently by two authors.
STUDY SELECTION
This systematic review was performed in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). Studies reporting the post-operative assessment of children with HD using colonic manometry were considered for inclusion.
RESULTS
Five studies satisfied selection criteria, providing a combined total of 496 children. Of these, 184 children with repaired HD underwent colonic manometry. Studies assessed heterogeneous populations, utilized variable manometry equipment and protocols, and reported limited baseline symptom characteristics, thus restricting comparability. All studies used low-resolution colonic manometry.
CONCLUSIONS
This systematic review highlighted the paucity of evidence informing the understanding of colonic dysmotility in the post-operative HD cohort. Current literature is limited by variable methodologies, heterogeneous cohorts, and the lack of high-resolution manometry.
Topics: Colon; Hirschsprung Disease; Humans; Manometry; Postoperative Complications
PubMed: 34214244
DOI: 10.1111/nmo.14201 -
Acta Bio-medica : Atenei Parmensis Dec 2018Shiga-toxin Escherichia coli productor (STEC) provokes frequently an important intestinal damage that may be considered in differential diagnosis with the onset of...
BACKGROUND
Shiga-toxin Escherichia coli productor (STEC) provokes frequently an important intestinal damage that may be considered in differential diagnosis with the onset of Inflammatory Bowel Disease (IBD). The aim of this work is to review in the current literature about Hemolytic Uremic Syndrome (HUS) and IBD symptoms at the onset, comparing the clinical presentation and symptoms, as the timing of diagnosis and of the correct treatment of both these conditions is a fundamental prognostic factor. A focus is made about the association between typical or atypical HUS and IBD and a possible renal involvement in patient with IBD (IgA-nephropathy).
METHODS
A systematic review of scientific articles was performed consulting the databases PubMed, Medline, Google Scholar, and consulting most recent textbooks of Pediatric Nephrology.
RESULTS
In STEC-associated HUS, that accounts for 90% of cases of HUS in children, the microangiopathic manifestations are usually preceded by gastrointestinal symptoms. Initial presentation may be considered in differential diagnosis with IBD onset. The transverse and ascending colon are the segments most commonly affected, but any area from the esophagus to the perianal area can be involved. The more serious manifestations include severe hemorrhagic colitis, bowel necrosis and perforation, rectal prolapse, peritonitis and intussusception. Severe gastrointestinal involvement may result in life-threatening complications as toxic megacolon and transmural necrosis of the colon with perforation, as in Ulcerative Colitis (UC). Transmural necrosis of the colon may lead to subsequent colonic stricture, as in Crohn Disease (CD). Perianal lesions and strictures are described. In some studies, intestinal biopsies were performed to exclude IBD. Elevation of pancreatic enzymes is common. Liver damage and cholecystitis are other described complications. There is no specific form of therapy for STEC HUS, but appropriate fluid and electrolyte management (better hyperhydration when possible), avoiding antidiarrheal drugs, and possibly avoiding antibiotic therapy, are recommended as the best practice. In atypical HUS (aHUS) gastrointestinal manifestation are rare, but recently a study evidenced that gastrointestinal complications are common in aHUS in presence of factor-H autoantibodies. Some report of patients with IBD and contemporary atypical-HUS were found, both for CD and UC. The authors conclude that deregulation of the alternative complement pathway may manifest in other organs besides the kidney. Finally, searching for STEC-infection, or broadly for Escherichia coli (E. coli) infection, and IBD onset, some reviews suggest a possible role of adherent invasive E. coli (AIEC) on the pathogenesis of IBD.
CONCLUSIONS
The current literature shows that gastrointestinal complications of HUS are quite exclusive of STEC-associated HUS, whereas aHUS have usually mild or absent intestinal involvement. Severe presentation as toxic megacolon, perforation, ulcerative colitis, peritonitis is similar to IBD at the onset. Moreover, some types of E. coli (AIEC) have been considered a risk factor for IBD. Recent literature on aHUS shows that intestinal complications are more common than described before, particularly for patients with anti-H factor antibodies. Moreover, we found some report of patient with both aHUS and IBD, who benefit from anti-C5 antibodies injection (Eculizumab).
Topics: Acute Kidney Injury; Anemia, Hemolytic; Anti-Bacterial Agents; Antibodies, Monoclonal, Humanized; Apoptosis; Atypical Hemolytic Uremic Syndrome; Combined Modality Therapy; Contraindications, Drug; Diagnosis, Differential; Diarrhea; Escherichia coli Infections; Gastrointestinal Hemorrhage; Granuloma; Hemolytic-Uremic Syndrome; Humans; Inflammatory Bowel Diseases; Necrosis; Shiga-Toxigenic Escherichia coli; Thrombocytopenia
PubMed: 30561409
DOI: 10.23750/abm.v89i9-S.7911 -
Journal of Pediatric Surgery Dec 2018The purpose of this study was to review the management of obstructive symptoms and enterocolitis (HAEC) following pull-through for Hirschsprung's disease. (Meta-Analysis)
Meta-Analysis
BACKGROUND/PURPOSE
The purpose of this study was to review the management of obstructive symptoms and enterocolitis (HAEC) following pull-through for Hirschsprung's disease.
METHODS
A systematic review and meta-analysis (1992-2017) was performed. Included studies were: randomized controlled trials (RCT), retrospective/prospective case-control (C-C), case-series (C-S). Random-effect model was used to produce risk ratio (RR) [95% CI]. P < 0.05 was considered significant.
RESULTS
Twenty-nine studies were identified. Routine postoperative dilatations (5 C-S, 2 C-C; 405 patients): no effect on stricture incidence (RR 0.3 [0.02-5.7]; p = 0.4). Routine postoperative rectal irrigations (2 C-C; 172 patients): reduced HAEC incidence (RR 0.2 [0.1-0.5]; p = 0.001). Posterior myotomy/myectomy (4 C-S; 53 patients): resolved obstructive symptoms in 79% [60.6-93.5] and HAEC in 80% [64.1-92.1]. Botulinum toxin injection (9 C-S; 166 patients): short-term response in 77.3% [68.2-85.2], long-term response in 43.0% [26.9-59.9]. Topical nitric oxide (3 C-S; 13 patients): improvement in 100% of patients. Probiotic prophylaxis (3 RCT; 160 patients): no reduction in HAEC (RR 0.6 [0.2-1.7]; p = 0.3). Anti-inflammatory drugs (1 C-S, sodium cromoglycate; 8 patients): improvement of HAEC in 75% of patients.
CONCLUSIONS
Several strategies with variable results are available in patients with obstructive symptoms and HAEC. Routine postoperative dilatations and prophylactic probiotics have no role in reducing the incidence of postoperative obstructive symptoms and HAEC.
TYPE OF STUDY
Systematic review and meta-analysis.
LEVEL OF EVIDENCE
Level II.
Topics: Anti-Inflammatory Agents; Botulinum Toxins; Enterocolitis; Hirschsprung Disease; Humans; Incidence; Intestinal Obstruction; Myotomy; Nitric Oxide; Postoperative Complications; Probiotics; Recurrence; Therapeutic Irrigation
PubMed: 30236605
DOI: 10.1016/j.jpedsurg.2018.08.024 -
Pediatric Surgery International Aug 2014The co-occurrence of Hirschsprung's disease (HSCR) and multiple endocrine neoplasia type 2 (MEN2) is a relatively rare event. The basis for this association is the... (Review)
Review
PURPOSE
The co-occurrence of Hirschsprung's disease (HSCR) and multiple endocrine neoplasia type 2 (MEN2) is a relatively rare event. The basis for this association is the presence of a "Janus" mutation in the RET proto-oncogene--a mutation that acts simultaneously as both a gain-in-function and a loss-of-function mutation. To date, four mutations in the exon 10 region of RET that are known to cause MEN2A have been implicated in this association: C620, C618, C611 and C609. We performed a systematic review of the published literature on this association to determine its incidence, the prevalence and phenotype of HSCR associated with the 4 RET mutations mentioned above.
METHODS
A systematic literature-based search for relevant articles was conducted using three online databases. After exclusion of ineligible publications, we recorded data on all patients with a diagnosis of HSCR or MEN2A with a "Janus" RET mutation, as well as those who carried the mutation but were unaffected. Statistical analysis was performed using SPSS.
RESULTS
The literature search yielded 885 publications, of which 36 articles, incorporating data on 341 individuals, were eligible for inclusion in the final analysis. Co-occurrence of HSCR and MEN2A was recorded in 84 cases (24.6 %). HSCR occurred alone in 64 carriers of a "Janus" mutation (18.8 %) and MEN2A occurred in isolation in 173 cases (50.7 %). Twenty individuals (5.9 %) were found to carry a "Janus" mutation after screening on the basis of family history but were unaffected by either MEN2A or HSCR. The most common mutation recorded was the C620 mutation [114 cases (48.1 %)]. There was a relatively high incidence of long-segment aganglionosis (29.3 %) and total colonic aganglionosis (17.3 %) in this cohort. This trend was particularly notable in those with C620 mutations, only 33 % of whom had short-segment disease.
CONCLUSION
While the overall incidence of HSCR co-occurring with MEN2A is low, both conditions occur with a relatively high frequency in families with a RET mutation at exon 10. The proportion of cases of long-segment HSCR and total colonic aganglionosis is higher than that in the general population with HSCR in those with C620 and C618 mutations. These findings reinforce the importance of RET mutation testing in HSCR when a family history of either HSCR or MEN2 is present. In families with MEN2A and known exon 10 RET mutations, the threshold for investigation for HSCR in those with gastrointestinal symptoms should be very low. High-quality prospective longitudinal studies of large HSCR populations are required to shed greater light on this rare but important phenomenon.
Topics: Child; DNA Mutational Analysis; DNA, Neoplasm; Hirschsprung Disease; Humans; Multiple Endocrine Neoplasia Type 2a; Mutation; Pedigree; Phenotype; Proto-Oncogene Mas; Proto-Oncogene Proteins c-ret
PubMed: 24972642
DOI: 10.1007/s00383-014-3538-2 -
Annals of Surgery Dec 2015Surgery for pediatric idiopathic constipation (IC) is undertaken after failure of bowel management programs. Decisions are influenced by rectal biopsy, transit studies,... (Review)
Review
OBJECTIVE
Surgery for pediatric idiopathic constipation (IC) is undertaken after failure of bowel management programs. Decisions are influenced by rectal biopsy, transit studies, megacolon/megarectum, degree of soiling/incontinence, and anorectal manometry profile(s). A systematic review of ALL published studies critically evaluates outcomes of surgery for IC.
METHODS
MEDLINE (PubMed), Google Scholar, and EMBase were searched for English-language articles only. Studies included (1) peer-review publications with 3 or more patients, and (2) clinical outcomes defined by authors.
RESULTS
Forty-five reports (1157 patients) met full inclusion criteria. Only 2 papers were randomized controlled trials. Many had small patient numbers (median n = 16; range: 3-114). Twenty-three described heterogenous populations with variant pathology. Follow-up was short (median = 1.5 years: range: 3 months-14 years). The antegrade continence enema operation (ACE)-[open/laparoscopic assisted, cecostomy, or "left sided" ACE]-was judged as successful in 82% of cases, although high morbidity and reoperations were reported. Colon resection and pull through operations had "good" outcome(s) in 79% of children with 17% reporting significant morbidity and a 10% incidence of revisional surgery. Anal dilatation did not improve outcome(s). Botulinum toxin injection scored equally effective compared to internal sphincter myectomy in short-term follow-up. Permanent colostomy was considered successful in 86% of refractory IC cases.
CONCLUSIONS
Surgical management and outcome(s) for pediatric IC are based on low-quality evidence. No single operation was considered "best practice." This study crucially highlights that surgeons must develop better care strategies.
Topics: Cecostomy; Child; Chronic Disease; Colectomy; Colostomy; Constipation; Digestive System Surgical Procedures; Humans; Laparoscopy; Treatment Outcome
PubMed: 25775070
DOI: 10.1097/SLA.0000000000001191 -
World Journal of Gastroenterology Jul 2019A large proportion of patients with Hirschsprung disease experience persistent obstructive symptoms after corrective surgery. Persistent obstructive symptoms may result... (Meta-Analysis)
Meta-Analysis
BACKGROUND
A large proportion of patients with Hirschsprung disease experience persistent obstructive symptoms after corrective surgery. Persistent obstructive symptoms may result in faecal stasis that can develop into Hirschsprung-associated enterocolitis, a potential life-threatening condition. Important treatment to improve faecal passage is internal anal sphincter relaxation using botulinum toxin injections.
AIM
To give an overview of all empirical evidence on the effectiveness of botulinum toxin injections in patients with Hirschsprung disease.
METHODS
A systematic review and meta-analysis was done by searching PubMed, EMBASE and the Cochrane Library, using entry terms related to: (1) Hirschsprung disease; and (2) Botulinum toxin injections. 14 studies representing 278 patients met eligibility criteria. Data that were extracted were proportion of patients with improvement of obstructive symptoms or less enterocolitis after injection, proportion of patients with adverse effects and data on type botulinum toxin, mean dose, average age at first injection and patients with associated syndromes. Random-effects meta-analysis was used to aggregate effects and random-effects meta-regression was used to test for possible confounding factors.
RESULTS
Botulinum toxin injections are effective in treating obstructive symptoms in on average 66% of patients [event rate (ER) = 0.66, = 0.004, = 49.5, = 278 patients]. Type of botulinum toxin, average dose, average age at first injections and proportion of patients with associated syndromes were not predictive for this effect. Mean 7 duration of improvement after one botulinum toxin injections was 6.4 mo and patients needed on average 2.6 procedures. There was a significant higher response rate within one month after botulinum toxin injections compared to more than one month after Botulinum toxin injections (ER = 0.79, ER = 0.46, Q = 19.37, < 0.001). Botulinum toxin injections were not effective in treating enterocolitis (ER 0.58, = 0.65, = 71.0, = 52 patients). There were adverse effects in on average 17% of patients (ER = 0.17, < 0.001, = 52.1, = 187 patients), varying from temporary incontinence to mild anal pain.
CONCLUSION
Findings from this systematic review and meta-analysis indicate that botulinum toxin injections are effective in treating obstructive symptoms and that adverse effects were present, but mild and temporary.
Topics: Anal Canal; Botulinum Toxins, Type A; Constipation; Digestive System Surgical Procedures; Enterocolitis; Hirschsprung Disease; Humans; Postoperative Complications; Time Factors; Treatment Outcome
PubMed: 31333317
DOI: 10.3748/wjg.v25.i25.3268 -
The American Journal of Gastroenterology Dec 2019Although systemic sclerosis (SSc) is known to affect the gastrointestinal (GI) tract, most of the literature focuses on esophageal, small intestinal, or anorectal...
OBJECTIVES
Although systemic sclerosis (SSc) is known to affect the gastrointestinal (GI) tract, most of the literature focuses on esophageal, small intestinal, or anorectal manifestations. There have been no reviews focused on large bowel SSc complications in over 30 years. The aim of this study is to perform a systematic review of colonic manifestations and complications of SSc.
METHODS
An experienced librarian conducted a search of databases, including English and Spanish articles. The search used keywords including "systemic sclerosis," "scleroderma," and "colon." A systematic review was performed using Preferred Reporting Items for Systematic Review and Meta-Analyses guidelines. Case reports/series were screened for validity by adapting from criteria published elsewhere.
RESULTS
Of 1,890 articles, 74 met selection criteria. Fifty-nine of the 77 articles were case reports/series. The most common article topics on colonic SSc complications were constipation/dysmotility (15), colonic volvulus (8), inflammatory bowel disease (7), microscopic colitis (6), megacolon (6), and telangiectasia (6). Colonic manifestations constituted 24% of articles on GI complications of SSc. There were a total of 85 cases (84% women, with a median age of onset of colon complication of 52 years). Limited cutaneous SSc phenotype (65.6%) was more common than diffuse (26.2%). Patients frequently had poor outcomes with high mortality related to colonic complications (27%). Recent studies explore contemporary topics such as the microbiome in SSc and prucalopride for chronic constipation in SSc.
DISCUSSION
Colonic complications comprise a large proportion of the published reports on GI symptoms afflicting patients with SSc and require raised diagnostic suspicion and deliberate action to avoid potentially serious complications including death.
Topics: Colitis, Microscopic; Colonic Diseases; Constipation; Humans; Inflammatory Bowel Diseases; Intestinal Volvulus; Megacolon; Scleroderma, Diffuse; Scleroderma, Limited; Scleroderma, Systemic; Telangiectasis
PubMed: 31805016
DOI: 10.14309/ajg.0000000000000397 -
Pediatric Surgery International Apr 2022Hirschsprung's disease (HD) is a rare occurrence in premature infants, and the exact prevalence varying across studies. Thus, we conducted this study to determine the... (Meta-Analysis)
Meta-Analysis
PURPOSE
Hirschsprung's disease (HD) is a rare occurrence in premature infants, and the exact prevalence varying across studies. Thus, we conducted this study to determine the prevalence of and clinical presentation of HD in preterm infants.
METHODS
The PubMed, EmBase, and Cochrane library databases were searched for eligible studies throughout May 2021. The pooled incidence with 95% confidence interval (CI) was calculated using the random-effects model.
RESULTS
Thirty studies involved 4,557 children with HD were included. The pooled proportion of HD patients who were preterm infants was 7% (95% CI 5-8%; P < 0.001); the sensitivity analysis indicated that the pooled prevalence of preterm infants with HD ranged from 5.0% to 5.6%. Moreover, the pooled incidence of abdominal distention in HD patients was 83% (P < 0.001), that of vomiting was 61% (P < 0.001), that of bilious vomiting was 54% (P < 0.001), that of delayed meconium passage was 48% (P < 0.001), that of constipation was 44% (P < 0.001), and that of enterocolitis was 13% (P < 0.001).
CONCLUSIONS
This study reported the prevalence of HD patients who were preterm infants, and the most common presentations were abdominal distention, vomiting, bilious vomiting, delayed meconium passage, constipation, and enterocolitis.
Topics: Child; Constipation; Enterocolitis; Hirschsprung Disease; Humans; Infant; Infant, Newborn; Infant, Premature; Prevalence
PubMed: 35142873
DOI: 10.1007/s00383-021-05054-2 -
The American Journal of Tropical... Jan 2024The aims of this study were to estimate the prevalence of gastrointestinal manifestations among individuals with positive serology for Chagas disease (ChD) and to... (Meta-Analysis)
Meta-Analysis
The aims of this study were to estimate the prevalence of gastrointestinal manifestations among individuals with positive serology for Chagas disease (ChD) and to describe the clinical gastrointestinal manifestations of the disease. A systematic review with meta-analysis was conducted based on the criteria and recommendations of the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines. The PubMed, Scopus, Virtual Health Library, Web of Science, and Embase databases were used to search for evidence. Two reviewers independently selected eligible articles and extracted data. RStudio® software was used for the meta-analysis. For subgroup analysis, the studies were divided according to the origin of the individuals included: 1) individuals from health units were included in the health care service prevalence analysis, and 2) individuals from the general population were included in the population prevalence analysis. A total of 2,570 articles were identified, but after removal of duplicates and application of inclusion criteria, 24 articles were included and 21 were part of the meta-analysis. Most of the studies were conducted in Brazil. Radiological diagnosis was the most frequent method used to identify the gastrointestinal clinical form. The combined effect of meta-analysis studies showed a prevalence of gastrointestinal manifestations in individuals with ChD of 12% (95% CI, 8.0-17.0%). In subgroup analysis, the prevalence for studies involving health care services was 16% (95% CI, 11.0-23.0%), while the prevalence for population-based studies was 9% (95% CI, 5.0-15.0%). Megaesophagus and megacolon were the main forms of ChD presentation in the gastrointestinal form. The prevalence of gastrointestinal manifestations of ChD was 12%. Knowing the prevalence of ChD in its gastrointestinal form is an important step in planning health actions for these patients.
Topics: Humans; Gastrointestinal Tract; Chagas Disease; Brazil
PubMed: 38052078
DOI: 10.4269/ajtmh.23-0323