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Background: Hirschsprung disease is a congenital intestinal motility disorder characterized by an absence of enteric ganglion cells. Total colonic aganglionosis and near total or total intestinal aganglionosis, defined as absence of ganglion cells in the entire colon and with variable length of small bowel involved, are life-threatening conditions which affect less than 10 % of all patients with Hirschsprung disease. The aim of this project was to develop clinical consensus statements within ERNICA, the European Reference Network for rare congenital digestive diseases, on four major topics: Surgical treatment of total colonic aganglionosis, surgical treatment of total intestinal aganglionosis, management of poor bowel function in total colonic and/or intestinal aganglionosis and long-term management in total colonic and or intestinal aganglionosis., Methods: A multidisciplinary panel of representatives from ERNICA centers was invited to participate. Literature was searched, using specified search terms, in Medline (ALL), Embase and Google Scholar. Abstracts were screened and full text publications were selected. The panel was divided in four groups that extracted data from the full text publications and suggested draft statements for each of the major topics. A modified Delphi process was used to refine and agree on the statements., Results: The consensus statement was conducted by a multidisciplinary panel of 24 participants from 10 European countries, 45 statements reached consensus after 3 Delphi-rounds. The availability of high-quality clinical evidence was limited, and most statements were based on expert opinion. Another 25 statements did not reach consensus., Conclusions: Total colonic and total intestinal aganglionosis are rare variants of Hirschsprung disease, with very limited availability of high-quality clinical evidence. This consensus statement provides statements on the surgical treatment, management of poor bowel function and long-term management for these rare patients. The expert panel agreed that patients benefit from multidisciplinary and personalized care, preferably in an expert center., Type of Study: Clinical consensus statement., Level of Evidence: 3a., Competing Interests: Declaration of competing interest All contributing authors have submitted a declaration of interest form. No competing interests were noticed, all declarations are available on request., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Background: The Clavien-Madadi classification is a novel instrument for the assessment and grading of unexpected events in pediatric surgery, based on the Clavien-Dindo classification. The system has been adjusted to better fit the pediatric population in a prospective single-center study. There is a need now to validate the Clavien-Madadi classification within an international expert network., Methods: A pediatric surgical working group created 19 case scenarios with unexpected events in a multi-staged process. Those were circulated within the European Reference Network of Inherited and Congenital Anomalies (ERNICA) and surgeons were instructed to rate the scenarios according to the Clavien-Madadi vs. Clavien-Dindo classification., Results: 59 surgeons from 12 European countries completed the questionnaire. Based on ratings of the case scenarios, the Clavien-Madadi classification showed significantly superior agreement rates of the respondents (85.9% vs 76.2%; p < 0.05) and was less frequently considered inaccurate for rating the pediatric population compared to Clavien-Dindo (2.1% vs 11.1%; p = 0.05). Fleiss' kappa analysis showed slightly higher strength of agreement using the Clavien-Madadi classification (0.74 vs 0.69). Additionally, intraclass correlation coefficient was slightly higher for the Clavien-Madadi compared to the Clavien-Dindo classification (ICC just 0.93 vs 0.89; ICC unjust 0.93 vs 0.89). More pediatric surgeons preferred the Clavien-Madadi classification for the case scenarios (43.0% vs 11.8%; p = 0.002) and advantages of the Clavien-Madadi were confirmed by 81.4% of the surgeons., Conclusion: The Clavien-Madadi classification is an accurate and reliable instrument for the grading of unexpected events in pediatric surgery. We therefore recommend its application in clinical and academic pediatric surgical practice., Level of Evidence: III., Competing Interests: Conflicts of interest None of the authors have any conflicts of interest to declare., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Background: Despite an increasing necrotizing enterocolitis (NEC) incidence, treatment strategies have failed to make major advancements towards improved NEC outcomes. Heterogeneity in outcome reporting and a lack of treatment efficacy studies potentially hamper these advancements. We aimed to analyze outcome reporting in recent interventional NEC studies., Methods: We performed a systematic review identifying interventional studies on NEC between 1st of January 2016 and 1st of June 2023 in MEDLINE, Embase, CENTRAL and Cochrane reviews. Systematic reviews, clinical trials and change-in-practice cohort studies reporting any therapeutic intervention for NEC patients (Bell's stage ≥ IIa) were eligible. We excluded studies on NEC diagnostics or prevention and non-English publications. Outcomes were categorized into five core areas and presented descriptively. The review was registered with PROSPERO (CRD42022302712)., Results: Out of 1.642 screened records, 65 were eligible for full-text review and 15 were finally included for data extraction. Median number of reported outcomes per article was six (range 1-19). We identified 66 unique outcomes, which were mapped to 53 outcome terms. Thirty-four out of the 53 of the outcome terms (64%) were only reported in a single article. Mortality was the most reported outcome (11/15 articles, 73%). Core area 'Adverse outcomes' contained the most outcome terms (n = 19), whereas 'Life impact' contained the least outcome terms (n = 4) and was represented in 3 articles (20%)., Conclusions: Considerable heterogeneity in outcome reporting and a paucity of outcomes concerning 'Life impact' exist in interventional NEC studies. Development of a NEC core outcome set may improve consistency and patient-relevance in outcome reporting., Study Type: Systematic Review and Meta-Analyses., Level of Evidence: III., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)

Purpose: The benefit of elective resection of congenital lung malformations continues to be debated. Proponents of resection endorse a decreased risk of respiratory complications as one indication for surgery. Our study aimed to compare the prevalence of respiratory infections in cases, before and after resection of congenital lung malformations, to controls without a history of congenital lung malformation., Methods: We performed a retrospective cohort study of children born from 1991 to 2007 who underwent congenital lung malformation resection. Patients were identified from Winnipeg´s Surgical Database of Outcomes and Management (WiSDOM), and a 10:1 date-of-birth matched control group was generated from a population-based administrative data repository. International Classification of Disease codes were used to assess pulmonary infection outcomes. Relative rates (RR) were calculated to compare the frequency of pneumonia, respiratory infections and influenza between cases and controls., Results: We included 31 congenital lung malformation cases and 310 controls. Cases consisted of 14 (45.16%) congenital pulmonary airway malformations, 9 (29.03%) bronchopulmonary sequestrations and 8 (25.81%) hybrid lesions. Before resection, pneumonia was more common in cases than controls (RR 6.85; 95%CI 3.89, 11.9), while the risk of acute respiratory infections (RR 1.21; 95%CI 0.79, 1.79) and influenza (RR 0.46; 95%CI 0.01, 3.22) were similar to controls. Post-resection, the risk of pneumonia (RR 9.75; 5.06, 18.50) was still higher in cases than controls, and respiratory infections (RR 1.77; 95%CI 1.20, 2.53) and influenza (RR 3.98; 95%CI 1.48, 9.36) were more common in cases than controls., Conclusion: Our study demonstrated that after resection of congenital lung malformations, children experience more frequent respiratory infections compared to the general population. Resection does not eliminate the increased risk of pneumonia., Competing Interests: Conflict of Interest None of the authors have conflicts of interest to declare., (Copyright © 2022. Published by Elsevier Inc.)

Background: Wound dehiscence (WD) of the anocutaneous anastomosis or perineal body after posterior sagittal anorectoplasty (PSARP) is common. We aimed to evaluate the efficacy of a perineal vacuum-assisted closure (VAC) for prevention of WD following repair of anorectal malformations (ARM) with rectoperineal and rectovestibular fistula., Methods: A retrospective dual-center case-control study of children undergoing PSARP without colostomy between 2011 and 2019 was performed. The VAC group received preoperative bowel preparation (PBP), postoperative application of a VAC, loperamide (only Location A), intravenous antibiotics (IA), and total parenteral nutrition (TPN). The non-VAC group underwent PBP, loperamide (Location A), IA, and TPN without VAC. Primary outcome was WD at the anocutaneous anastomosis or reconstructed perineal body within the first 14 days after surgery., Results: The study population included 18 patients (VAC group) and 20 children (non-VAG group) with rectoperineal and rectovestibular fistula. The incidence of WD in the VAC group was 0% compared to 25% in the non-VAC group (0/18 vs. 5/20, p = 0.04). No VAC related complications occurred., Conclusion: Postoperative application of a VAC embedded in a perioperative treatment protocol has the potential to prevent wound dehiscence of the neoanus and reconstructed perineal body following PSARP., Type of Study: Case-control study., Level of Evidence: Level III., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Background: Human tissue samples are an invaluable and little available source of information for translational studies of congenital lung diseases such as Congenital Diaphragmatic Hernia (CDH) or Congenital Pulmonary Airway Malformation (CPAM)., Purpose: We aimed to establish a human lung tissue biobank of CDH and CPAM patients together with age-matched controls, coupled with a clinical database., Methods: Pathology records from autopsies or surgical specimens for CDH and CPAM cases between 1980 and 2017 were reviewed. For surviving individuals, clinical patient data was obtained from corresponding pediatric surgery reports. Formalin-fixed, paraffin-embedded tissues of patients and age-matched controls were systematically stored for further translational studies. RNA integrity was determined on selected CDH blocks., Results: A total of 16 CDH and 18 CPAM and age-matched control lung tissue blocks were included in our biobank. Ages ranged from 22 to 41 weeks of gestation (GA) in CDH (33.9 ± 6.35 weeks) and 26 weeks (GA) and 12 years in CPAM (2.3 ± 3.7 y). RNA isolation from CDH and control blocks yielded good RNA quality (OD 260/280 ratio: 2.01-2.09, OD 260/230 ratio: 2.04-2.09)., Conclusion: We established a unique human biobank for CDH and CPAM tissues. The combination with clinical patient data will allow us to design future translational studies to improve our understanding of the disease pathogenesis of these congenital malformations., (Copyright © 2019. Published by Elsevier Inc.)

Aims of the Study: We aimed to assess postoperative complications prospectively on a daily basis and hypothesized that this would lead to an increase in the number of detected complications., Methods: Surgical complications were assessed prospectively during a period of 8months. Systematic documentation was carried out daily during a team meeting (period S). Data were compared to those of a preceding period of 8-months of nonsystematic assessment (period N) in which complications had been documented in a self-reporting fashion. Complications were classified according to the Clavien-Dindo classification., Results: A total of 1291 patients (mean age: 6.6years) were included. During period S complications were determined in 16% of 790 operations compared to 4% of 741 procedures in period N (p<0.01). This difference was owing to an increased detection of minor complications (grade I-III), i.e. wound infection, dysuria after hypospadias repair or postoperative bleeding. In contrast, the incidence of severe complications (grade IV+V) was not significantly different between the time periods (1.3% in period S and 0.8% in period N). Most frequent major complications were cardiopulmonary arrest, enterocolitis, and death. Severe complications accounted for 8% of complications discussed during weekly morbidity and mortality conferences in period S versus 22% in period N (p<0.05)., Conclusion: Our results indicate that a systematic documentation of complications on a daily basis reveals a more realistic picture of the incidence of pediatric surgical complications and should be the method of choice., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Purpose: The treatment of children with biliary dyskinesia (BD) is controversial. As we recently observed an increasing frequency of referrals for BD in our institution the aim of the study was to re-evaluate the long-term outcome in children with BD., Methods: Children with laparoscopic cholecystectomy (LC) for suspected BD between 8/2006 and 5/2011 were included. A pathologic ejection fraction (EF) was defined as <35%. The long-term effect of cholecystectomy was assessed via a Likert scale symptom questionnaire., Results: 82 children (median age 13.5 years, mean BMI 25.8) were included. CCK-HIDA scan was pathologic in 74 children (90.2%). Mean EF was 16.4%. Histology revealed chronic cholecystitis in 48 (58.5%) children and was normal in 30 children (36.5%). The frequency of LC for suspected BD increased by a factor of 4.3 in the last 10 years. Long term follow-up showed that only 23/52 children (44.2%) were symptom-free after LC. Patients with chronic inflammation were more likely to have persistent symptoms (p=0.017). An EF<15% was associated with a resolution of symptoms (p=0.031)., Conclusion: The frequency of LC for suspected BD in our institution has increased significantly during recent years. The long-term efficacy in our cohort was only 44.2%. We believe that laparoscopic cholecystectomy is likely helpful in patients with an EF<15%. However, in children with an EF of 15%-35%, based upon our data, we would highly recommend an appropriately thorough pre-op testing to exclude other gastrointestinal disorders prior to consideration of operative management., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Unlabelled: BACKGROUD/PURPOSE: Hirschsprung-associated enterocolitis (HAEC) represents a cause for significant pre- and postoperative morbidity and mortality in Hirschsprung disease (HD). Although multiple studies on HAEC have been performed and several mechanisms have been presumed, the pathogenesis of this condition remains unclear. As changes in colonic mucosal defense are key factors suggested in both Crohn's disease (CD) and HAEC pathogenesis, the aim of the current study was to investigate genetic alterations in the most important susceptibility gene for Crohn's enterocolitis (NOD2) to see whether carriers of polymorphisms within the NOD2 gene are predisposed to the development of HAEC., Methods: Genotyping for the NOD2 variants in exon 4 (p.Arg702Trp [rs2066844]), exon 8 (p.Gly908Arg [rs2066845]), and exon 11 (p.1007fs [rs2066847]) was performed in 52 white children with HD (41 boys, 11 girls), 152 healthy controls, and 152 children with CD (onset of disease <17 years; mean, 11.8 years). Seventeen patients with HD (32.7%) were carriers of a RET germline mutation, 35 children (67.3%) had short segment disease, and 17 (32.7%) had long segment disease., Results: Ten children (19.2%) with HD were heterozygous carriers of at least one NOD2 variant vs 17 (11.2%) in the healthy control group and 69 (45.4%) in the CD cohort. Hirschsprung-associated enterocolitis was observed in 7 children (13.5%), with 4 having short segment HD and 3 with long segment HD; but none of them were carriers of NOD2 variants., Conclusion: Our study shows that NOD2 variants described to be causatively associated with CD do not predispose to the development of HAEC. As data on the molecular basis of HAEC are limited, the distinct mechanisms involved in the pathogenesis of this complication remain unclear., (Copyright © 2010 Elsevier Inc. All rights reserved.)

Background/purpose: Three common mutations of the NOD2/CARD15 gene have been associated with Crohn disease (CD), ileal disease location, and fibrostenotic behavior. The aim of this study was to investigate the effect of these mutations on disease manifestation and the risk of surgery in a cohort of German childhood-onset CD patients., Methods: Genotyping for the NOD2 mutations p.Arg702Trp, p.Gly908Arg, and p.1007fs was performed in 171 CD children (onset of disease <17 years; mean 11.8 years) and in 253 controls. NOD2 mutation status was correlated with the need for surgery during childhood., Results: Seventy-eight children (45.6%) were carriers of at least 1 NOD2 mutation versus 36 (14.2%) in the control group (P < .0001). NOD2 mutations were highly associated with CD and stricturing behavior (P < .0001), with the p.1007fs mutation also conferring a risk for isolated ileal disease (P = .003). Thirty-two children (18.7%) needed an intestinal resection with a significant association between the need of surgery and NOD2 carrier status. Surgery occurred at an earlier stage of disease in children with p.1007fs mutations., Conclusions: In children with pediatric-onset CD, the need for surgical therapy younger than 17 years is associated with the NOD2 genotype. Genetic testing therefore may identify children with CD who are at risk., (Copyright 2010 Elsevier Inc. All rights reserved.)