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Background: Due to the high prevalence of posterior horseshoe anal fistula and causing numerous complications, this study aimed to investigate the clinical effect of radial incision combined with tunnel floating line drainage (RCTD) and arc incision internal drainage in the treatment of the disease and the influence on perianal flora., Methods: Ninety-six subjects treated with high posterior horseshoe anal fistula were stochastically assigned to a joint group (RCTD), and control group (arc incision internal drainage). The operation-related conditions, complication rate, anal function, and recurrence rate of 6 months after operation were compared, and perianal secretions were collected before operation and 1 day after operation to detect the changes of microbial flora., Results: After operation, it was corroborated notable difference between joint group and control group in operation time, intraoperative blood loss, wound healing time, visual analogue scale score 6 hours after operation and phase I cure rate. Chi square test analysis showed notable difference between control group (27.08%) and joint group (10.40%) in incidence of complications, in terms of number of pathogens detected around anus, significantly smaller of the incremental change for the joint subgroup versus the control subgroup 1 day after operation., Conclusion: RCTD can be the best choice for patients with high posterior horseshoe anal fistula. This operation method has the advantages of short operation time, less trauma, fewer complications, fast recovery of anal function, and can also reduce perianal pathogenic bacteria infection., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.)

Background: Anorectal malformations (ARM) with rectoperineal fistula are mainly repaired with a posterior sagittal anorectoplasty (PSARP), which can be challenging given the proximity of the fistula to the vagina and urethra. The posterior rectal advancement anoplasty (PRAA), preserves the anterior wall of the fistula without leaving an anterior or a posterior sagittal incision. It is indicated for selected cases of ARM with rectoperineal fistula in which the anterior aspect of the fistula is partially surrounded by sphincter complex., Methods: Multicentre and retrospective study of patients with rectoperineal fistula treated with PRAA. We analysed gender, associated malformations, age, operative time, short and long-term results, and complications., Results: 18 patients aged 93.5 (1.75-312) days underwent PRAA. Surgical time was 35 (25-45) minutes and feeding was started at 24 (5-48) hours postoperatively. There were no vaginal or urethral injuries, no wound infections or dehiscenses. Throughout the 38 (12.75-45.50) months of follow-up there were no anal strictures. All patients are passing stool, 11 (61%) of them with the need of a low dose stool softener., Conclusion: Selected patients with rectoperineal fistula can be treated with PRAA with a shorter surgical time and hospital stay. This technique provides good results and lower risk of injury to neighbouring structures.

Objectives: To introduce a two-dimensional sonographic method to assess the fetal anus, and to evaluate the feasibility of this method to diagnose anal atresia prenatally and identify the presence or absence of anoperineal fistula (in males) and anovestibular fistula (in females)., Methods: This was an observational study of suspected cases of anal atresia referred to a single center in Israel between August 2018 and October 2023. In addition to conventional evaluation of the perineum in the axial plane, fetuses referred to our center for suspected malformation were scanned with a new method termed the 'infracoccygeal/transperineal window'. This window consisted of a midsagittal view of the fetal pelvis, including the distal rectum and the anal canal. Normal anatomy was confirmed when the anal canal was continuous with the rectum and terminated at the expected location on the perineum. In female fetuses, the normal anal canal runs parallel to the vaginal canal and diverges posteriorly, terminating at the perineal skin, distant from the vestibule. In male fetuses, the normal anal canal diverges posteriorly in relation to the corpora cavernosa, terminating at the perineal skin, distant from the scrotum. High anal atresia was identified when a blind-ending rectal pouch was demonstrated in the pelvis without a fistula to the perineum or vestibule. Low anal atresia was determined when a rectal pouch was continuous with an anteriorly deflected fistula. In females, the fistula converges with the vaginal canal, terminating at the vestibule; in males, the fistula deflects anteriorly, terminating at the base of the scrotum. Postnatally, the diagnosis and type of anal atresia were confirmed through physical examination with direct visualization of the fistula, radiographic studies, surgical examination and/or postmortem autopsy., Results: Of the 16 fetuses diagnosed prenatally with anal atresia, eight were suspected to have low anal atresia and eight were suspected to have high anal atresia. The median gestational age at diagnosis was 23 (range, 14-37) weeks. All cases showed additional structural malformation. Eleven patients opted for termination of pregnancy, of which four had low anal atresia and seven had high anal atresia. Postnatal confirmation was not available in four cases due to curettage-induced mutilation or in-utero degradation following selective termination of the affected twin, leaving 12 cases for analysis, of which seven were diagnosed with low anal atresia and five with high anal atresia. In these 12 cases, all prenatal diagnoses were confirmed as correct, rendering 100% sensitivity and 100% specificity in this high-risk fetal population., Conclusions: The infracoccygeal/transperineal window is an effective method to detect and classify the level of anal atresia prenatally. This may improve prediction of postnatal fetal continence and optimize prenatal counseling. © 2024 International Society of Ultrasound in Obstetrics and Gynecology., (© 2024 International Society of Ultrasound in Obstetrics and Gynecology.)

Objective: Treatment of neonates with anorectal malformations (ARMs) can be challenging due to variability in anatomic definitions, multiple approaches to surgical management, and heterogeneity of reported outcomes. The purpose of this systematic review is to summarize existing evidence, identify treatment controversies, and provide guidelines for perioperative care., Methods: The American Pediatric Surgical Association Outcomes and Evidence Based Practice Committee (OEBP) drafted five consensus-based questions regarding management of children with ARMs. These questions were related to categorization of ARMs and optimal methods and timing of surgical management. A comprehensive search strategy was performed, and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were used to perform the systematic review to attempt to answer five questions related to surgical care of ARM., Results: A total of 10,843 publications were reviewed, of which 90 were included in final recommendations, and some publications addressed more than one question (question: 1 n = 6, 2 n = 63, n = 15, 4 n = 44). Studies contained largely heterogenous groups of ARMs, making direct comparison for each subtype challenging and therefore, no specific recommendation for optimal surgical approach based on outcomes can be made. Both loop and divided colostomy may be acceptable methods of fecal diversion for patients with a diagnosis of anorectal malformation, however, loop colostomies have higher rates of prolapse in the literature reviewed. In terms of timing of repair, there did not appear to be significant differences in outcomes between early and late repair groups. Clear and uniform definitions are needed in order to ensure similar populations of patients are compared moving forward. Recommendations are provided based primarily on A-D levels of evidence., Conclusions: Evidence-based best practices for ARMs are lacking for many aspects of care. Multi-institutional registries have made progress to address some of these gaps. Further prospective and comparative studies are needed to improve care and provide consensus guidelines for this complex patient population., Competing Interests: Conflict of interest None of the authors have a financial or other conflicts of interest related to the issues addressed in this manuscript., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Background: Genital malformations are frequently diagnosed in patients with VACTERL, but are currently not included in the acronym. This study aimed to analyze the frequency of genital anomalies in patients with esophageal atresia (EA) and/or anorectal malformation (ARM), with a subgroup analysis of children fulfilling the VACTERL criteria., Method: This was a cross-sectional retrospective analysis of two prospectively collected registries of patients operated on for ARM and EA between 2012 and 2022 at a specialized national center. Children were screened routinely for malformations according to the VACTERL acronym., Results: A total of 174 children were included in the study. VACTERL was diagnosed in 60 children (34%), while 114 children (66%) were defined as non-VACTERL. Genital malformations were diagnosed in 38% (23/60) of the children with VACTERL, and in 11% (13/114) of the children without VACTERL (p < 0.001). The presence of genital malformations correlated linearly with the number of diagnosed component features (CFs). In boys with VACTERL, the most common genital malformation was undescended testes present in 10/27 (21%) compared to 1/71 (1%) in non-VACTERL boys (p < 0.001). Müllerian duct anomalies were found in 26% of girls with VACTERL vs. 7% in non-VACTERL girls (p < 0.05)., Conclusion: There was a higher frequency of genital malformations in patients with VACTERL emphasizing the importance of genital assessment for these patients. We propose VACTERL-G as an extension of the current acronym aiming to reduce the risk of long-term morbidity due to delayed diagnosis of reproductive anomalies., Competing Interests: Conflicts of interest None., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Introduction: High horseshoe-shaped anal fistula (HHAF) is a complicated and challenging condition that presents considerable obstacles in treatment. We are presently investigating a novel surgical technique involving a combination of multi-incision and tube-dragging therapy, and laser closure (MITD-LaC) for the management of HHAF. Due to the current scarcity of rigorous evidence evaluating this approach, it is essential to perform a well-designed randomized controlled trial to compare the effectiveness of this new method with incision and thread-drawing therapy., Methods and Analysis: This trial is a prospective, randomized, controlled and interventional study. After preliminary screening of qualified outpatients, a total of 64 adult patients will be enrolled in the trial and randomly allocated to either the MITD-LaC group or the control group (n = 32 per group). These patients will receive either MITD-LaC or incision and thread-drawing therapy. The design aims to allow for a robust comparison between the two treatment modalities. The primary endpoint is the wound healing time, while secondary endpoints include postoperative anal pain at 1, 3, and 5 days (measured with visual analogue scale), fecal incontinence score within 30 days after operation (measured with Cleveland Clinic Florida incontinence score), and the occurrence of postoperative complications within 1 month after surgery, and quality of life up to six months postoperatively (evaluated by The Quality of Life in patients with Anal Fistula Questionnaire Score)., Discussion: This study represents the first randomized controlled trial evaluating the short-term outcomes of MITD-LaC, thereby aiming to contribute high-quality evidence to guide clinical practice. Moreover, this trial incorporates comprehensive outcome measures assessing both subjective and objective dimensions. Because of this multidimensional assessment, MITD-LaC offers a promising potential for broader application in the treatment of HHAF. Consequently, obtaining more definitive and authoritative evidence through scientifically rigorous clinical trials is of utmost importance in further validating this treatment approach., Ethics and Dissemination: We have submitted the clinical study protocol to the Ethics Committee, and it has been approved under ethical approval number 2021-1036-111-01. The results of the trial will be disseminated through peer-reviewed academic journals and presentations at professional conferences., Registration Number: ChiCTR2100053556., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Yang et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Background: Posterior sagittal anorectoplasty and laparoscopic-assisted anorectal pull-through are preferred for anorectal malformation (ARM) today, while careful pull-through procedures with sacroperineal approach yield excellent outcomes. This study focuses on a pull-through procedure emphasizing continence mechanism preservation and compares outcomes with historical studies with various procedures., Methods: Bowel function of patients with intermediate ARM followed up for over 10 years post-surgically was assessed. Data collected included ARM type with the Krickenbeck classification, comorbidities, complications, post-surgical examinations, follow-up, and bowel function at the latest clinic visit. The literature review collected original articles including more than 10 post-anorectoplasty cases which were followed for over 10 years., Results: Eleven cases were identified, with a median age at anorectoplasty and follow-up length of 6.9 months and 14.4 years. Two fistula recurrences required surgical treatment. Long-term incontinence and constipation were observed in 9% and 45% of the cohort, respectively. Good rectal angulation and a positive rectoanal inhibitory reflex were confirmed in most cases examined. A literature review identified eight studies with various outcome-measuring instruments., Conclusion: Outcomes of the introduced pull-through procedure were favorable, while the literature review highlights the variation in outcomes of various anorectoplasty., Evidence Level: Level IV., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Introduction: Anorectal malformations (ARMs) are birth defects that affect the rectum, anus, and surrounding structures. While genetic and environmental factors may contribute to the risk of developing ARMs, the exact causes are largely unknown. Notably, there is a lack of research investigating predisposing factors for ARMs within the Ethiopian population, despite the burden of this condition in the country., Objective: The research study aimed at to examine the maternal risk factors linked to the occurrence of anorectal abnormalities in children receiving treatment at designated public hospitals located in Addis Ababa, Ethiopia., Methods: An unmatched case-control study was conducted at selected hospitals on mothers and their children between August 2022 and January 2023. The sample consisted of pediatric patients admitted to pediatric surgical units. Cases were diagnosed with ARMs, while controls had no congenital anomalies. Data was collected from the mothers of both cases and controls. The data was validated and then exported to SPSS version 26 for analysis. The analysis employed descriptive statistics and binary logistic regression. In a multivariable model, an adjusted odds ratio (AOR) together with a 95% confidence interval and p-value < 0.05 was used to determine significance., Result: This study included 68 ARM cases and 136 controls. Multivariable analysis found that a family history of birth defects (AOR = 6.15, 95% CI: 1.24-30.58), maternal alcohol use (AOR = 4.71, 95% CI: 1.71-12.00), first-trimester medication use (AOR = 4.86, 95% CI: 1.29-18.32), advanced maternal age (AOR = 4.22, 95% CI: 1.21-14.69), and unplanned pregnancy (AOR = 3.701, 95% CI: 1.551-8.828) were significant risk factors for ARM., Conclusion: The study found that key risk factors for ARM include family history of birth defects, maternal alcohol use, first-trimester medication use, advanced maternal age, and unplanned pregnancy. These findings underscore the importance of tailored prevention strategies and screening programs to address the genetic, maternal lifestyle, and maternal health factors that contribute to this congenital disorder., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Solomon et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Aim: The VACTERL association or Syndrome consists of Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Renal, and Limb defects. The diagnosis relies on the presence of at least three of these structural abnormalities. This study reports a single case of a patient with VACTERL Syndrome (VS), aiming to assist dentists in recognizing the general aspects, systemic changes, and oral care related to this condition., Case Report: A 14-year-old female patient medically diagnosed with VS. The study evaluated the presence of systemic alterations, medication use, behavioral deviations, cognitive development, and oral aspects. The patient exhibited cardiovascular alterations including a ventricular septal defect (C), anal atresia (A), polydactyly (considered limb alteration-L), and scoliosis (a possible indication of vertebral anomalies-V). In the intraoral examination, findings included tooth crowding, enamel hypomineralization in several teeth, a deep and atretic palate, generalized gingivitis, bleeding, gingival hyperplasia, Class III malocclusion, and a right unilateral crossbite., Conclusion: Patients diagnosed with VACTERL syndrome experience significant systemic impairments. The research subject presented compromised oral health, challenges in dental management, delays in neuropsychomotor development, though these are not inherent to the syndrome. It is crucial to prevent oral diseases and provide early dental care for these patients to avoid the need for complex and invasive dental treatments due to systemic impairments., (© 2024 Special Care Dentistry Association and Wiley Periodicals LLC.)

Genital anomalies have been reported with VACTERL association but not considered a core feature. Acute and chronic complications stemming from unrecognized genital anomalies have been reported in adolescents and young adults with VACTERL association. We sought to determine the frequency and severity of genital anomalies in VACTERL patients and identify which core features were more frequently associated with genital anomalies. A retrospective chart review from January 2010 to October 2021 identified 211 patients with two or more core VACTERL features, 34% of whom had a genital anomaly. The majority of genital anomalies (83% of those in males and 90% in females) were classified as functionally significant (requiring surgical intervention or causing functional impairment). The frequency of genital anomalies in the VACTERL cohort was higher if anorectal malformations or renal anomalies were present in both males and females and if vertebral anomalies were present in females. Due to their functional significance, genital anomalies should be assessed in all patients with two or more core features of VACTERL association, especially in those with anorectal or renal anomalies. Most genital anomalies in males will be detected on physical examination but additional investigation is often needed to detect genital anomalies in females. The timing and type of investigation are subjects for future study., (© 2024 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

Objectives: To investigate associations between the rectoanal inhibitory reflex (RAIR), type of congenital anorectal malformations (ARMs), type of operation that patients with ARM had undergone, and objectively measured fecal incontinence and defecation problems., Methods: We retrospectively included 69 pediatric patients with ARM. All underwent anorectal function tests at the University Medical Center of Groningen during the last 10 years. We assessed anorectal physiology using the Rome IV criteria and anorectal function tests., Results: We found the reflex in 67% of patients and all types of ARMs. All patients who had not been operated on, and those who had undergone less extensive surgery possessed the reflex. In contrast, patients who underwent posterior sagittal anorectoplasty, 44% possessed it. We found no difference between mean rectal volumes in patients with and without the reflex (251  vs. 325 mL, respectively, p = 0.266). We found that over time, patients without the reflex seemed to develop significantly higher rectal volumes than patients who had it. We did not find a significant difference between the reflex and fecal incontinence; however, it seems that the absence of the reflex, resting anal sphincter pressure, and fecal incontinence are related., Conclusion: The RAIR seems present in patients with ARM irrespective of their malformation type. Corrective surgery, however, may impair this reflex. Seemingly, its absence results in constipation with enlarged rectal volumes and fecal incontinence. Every effort should be made to preserve this reflex during surgery and to use extensive surgical procedures as sparingly as possible., (© 2024 The Author(s). Journal of Pediatric Gastroenterology and Nutrition published by Wiley Periodicals LLC on behalf of European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.)

The anus is a complex structure formed from the hindgut. The anus can be further divided into the anal canal, the anal verge, and the anal margin. The anoderm is surrounded by the internal and external anal sphincters which are the distal continuation of pelvic floor muscles and the muscularis propria of the rectum. The anal canal is divided by the dentate or pectinate line with varying endothelium, bloody supply, and innervation based on location. The practicing colorectal surgeon needs to have a strong foundation in anorectal anatomy as it is integral to understanding the pathophysiology and treatment., Competing Interests: Disclosures The authors have nothing to disclose., (Published by Elsevier Inc.)

Anorectal malformations (ARM) encompass a spectrum of rare congenital defects of the rectum and anus, requiring specialized reconstructive surgery. To improve epidemiological and clinical research in rare diseases such as ARM, collaborative efforts and patient registries are key. This retrospective study pools clinical data over a 30-year period from two ARM patient registries (The Royal Children's Hospital (RCH) in Melbourne, Australia, and the ARM-Network Consortium in Europe). It aims to draw comparisons on demographics, management, and outcomes between ARM patients in Australia and Europe. A total of 2947 ARM patients were included in the analyses. The RCH cohort had more complex ARM types (including rectal atresia and recto-vaginal fistula) and more associated anomalies, specifically skeletal, cardiac, and/or trachea-esophageal, than ARM-Net patients. Other patient characteristics were similar. Treatments clearly differed between the groups. European surgeons favoured the PSARP approach for both less complex and more complex ARM types, where Australian surgeons opted more often for cutback surgery in less complex, and laparoscopic assistance in more complex types. Complications were differently distributed, with less complications after LAARP and more after PSARP at RCH, compared to ARM-Net. While RCH patients more often required a redo, ARM-Net patients more commonly underwent anal dilatations. Anorectal malformation patients in Australia and Europe had minor differences in disease characteristics, and both operative and medical approaches differed. Joint efforts such as the present study emphasize the importance of collaboration to elucidate areas of improvement where surgeons may learn from each other across the world, ultimately improving patient outcomes. TYPE OF STUDY: Original Research. LEVEL OF EVIDENCE: III., Competing Interests: Conflict of interest None to declare., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Congenital anomalies of the kidney and urinary tract (CAKUT) can be a part of the VACTERL association, which represents the non-random combination of the following congenital anomalies: vertebral anomalies, anal anomalies, cardiac anomalies, tracheal-esophageal anomalies, kidney anomalies, and limb anomalies. VACTERL association is generally considered to be a non-genetic condition. Exceptions include a patient with a heterozygous nonsense SALL4 variant and anal stenosis, tetralogy of Fallot, sacro-vertebral fusion, and radial and thumb anomalies. SALL4 encodes a transcription factor that plays a critical role in kidney morphogenesis. Here, we report a patient with VACTERL association and a heterozygous 128-kb deletion spanning SALL4 who presented with renal hypoplasia, radial and atrio-septal defects, and patent ductus arteriosus. The present report of SALL4 deletion, in addition to a previously reported patient with VACTERL association phenotype and SALL4 nonsense mutation, further supports the notion that SALL4 haploinsufficiency can lead to VACTERL association., (© 2024. The Author(s), under exclusive licence to International Pediatric Nephrology Association.)

Purpose: Congenital anorectal stenosis is managed by dilations or operative repair. Recent studies now propose use of dilations as the primary treatment modality to potentially defer or eliminate the need for surgical repair. We aim to characterize the management and outcomes of these patients via a multi-institutional review using the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) registry., Methods: A retrospective database review was performed using the PCPLC registry. The patients were evaluated for demographics, co-morbidities, diagnostic work-up, surgical intervention, current bowel management, and complications., Results: 64 patients with anal or rectal stenosis were identified (57 anal, 7 rectal) from a total of 14 hospital centers. 59.6% (anal) and 42.9% (rectal) were male. The median age was 3.2 (anal) and 1.9 years (rectal). 11 patients with anal stenosis also had Currarino Syndrome with 10 of the 11 patients diagnosed with a presacral mass compared to only one rectal stenosis with Currarino Syndrome and a presacral mass. 13 patients (22.8%, anal) and one (14.3%, rectal) underwent surgical correction. Nine patients (8 anal, 1 rectal) underwent PSARP. Other procedures performed were cutback anoplasty and anterior anorectoplasty. The median age at repair was 8.4 months (anal) and 10 days old (rectal). One patient had a wound complication in the anal stenosis group. Bowel management at last visit showed little differences between groups or treatment approach., Conclusion: The PCPLC registry demonstrated that these patients can often be managed successfully with dilations alone. PSARP is the most common surgical repair chosen for those who undergo surgical repair., Level of Evidence: III., Competing Interests: Conflict of interest Many authors are members of this consortium but have no financial or further competing interests in the outcomes of the study. All other authors have nothing to declare., (Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)

Background: This study describes the presentation and initial management of anorectal malformation (ARM); evaluating the frequency, causes and consequences of late diagnosis., Methods: A prospective, population cohort study was undertaken for newly diagnosed ARMs in the UK and Ireland from 01/10/2015 and 30/09/2016. Follow-up was completed at one year. Data are presented as n (%), appropriate statistical methods used. Factors associated with late diagnosis; defined as: detection of ARM either following discharge or more than 72 h after birth were assessed with univariable logistic regression., Results: Twenty six centres reported on 174 cases, 158 of which were classified according to the type of malformation and 154 had completed surgical data. Overall, perineal fistula was the most commonly detected anomaly 43/158 (27%); of the 41 of these children undergoing surgery, 15 (37%) had a stoma formed. 21/154 (14%, CI 95 {9-20}) patients undergoing surgery experienced post-operative complications. Thirty-nine (22%) were diagnosed late and 12 (7%) were detected >30 days after birth. Factors associated with late diagnosis included female sex (OR 2.06; 1.0-4.26), having a visible perineal opening (OR 2.63; 1.21-5.67) and anomalies leading to visible meconium on the perineum (OR 18.74; 2.47-141.73). 56/174 (32%) had a diagnosis of VACTERL association (vertebral, anorectal, cardiac, tracheal, oesophageal, renal and limb); however, not all infants were investigated for commonly associated anomalies. 51/140 (36%) had a cardiac anomaly detected on echocardiogram., Conclusion: There is room for improvement within the care for infants born with ARM in the UK and Ireland. Upskilling those performing neonatal examination to allow timely diagnosis, instruction of universal screening for associated anomalies and further analysis of the factors leading to clinically unnecessary stoma formation are warranted., Level of Evidence: II (Prospective Cohort Study <80% follow-up)., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Purpose: We investigated the postoperative renal function in persistent cloaca (PC) patients who underwent posterior sagittal anorecto-urethro-vaginopalsty (PSARUVP) and factors influencing the renal functional outcomes., Methods: A questionnaire survey was distributed to 244 university and children's hospitals across Japan. Of the 169 patients underwent PSARUVP, 103 patients were enrolled in the present study. Exclusion criteria was patients without data of renal prognosis., Results: The present study showed that renal anomalies (p = 0.09), vesicoureteral reflux (VUR) (p = 0.01), and hydrocolpos (p = 0.07) were potential factors influencing a decline in the renal function. Approximately half of the patients had a normal kidney function, but 45.6% had a reduced renal function (Stage ≥ 2 chronic kidney disease: CKD). The incidence of VUR was significantly higher in the renal function decline (RFD) group than those in the preservation (RFP) group (p = 0.01). Vesicostomy was significantly more frequent in the RFD group than in the RFP group (p = 0.04). Urinary tract infections (p < 0.01) and bladder dysfunction (p = 0.04) were significantly more common in patients with VUR than in patients without VUR. There was no association between the VUR status and the bowel function., Conclusions: Prompt assessment and treatment of VUR along with bladder management may minimize the decline in the renal function., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: Anorectal malformations (ARMs) are congenital anomalies of the anorectum and the genitourinary system that result in a broad spectrum of hindgut anomalies. Despite surgical correction patients continue to have late postoperative genitourinary and colorectal dysfunction that have significant impact on quality of life., Aim: This paper will review the current evidence and discuss the evaluation and management of postoperative patients with ARMs who present with persistent defecation disorder., Methods: A literature search was conducted using PubMed/MEDLINE/EMBASE databases applying the following terms: ARMs, imperforate anus, constipation, faecal incontinence, neurogenic bowel, posterior sagittal anorectoplasty., Results: Patients who present with postoperative defecation disorders require timely diagnostic and surgical evaluation for anatomic abnormalities prior to initiation of bowel management. Goals of management are to avoid constipation in young children, achieve faecal continence in early childhood and facilitate independence in older children and adolescents. Treatment options vary from high dose stimulant laxatives to high-volume retrograde and antegrade enemas that facilitate mechanical colonic emptying., Conclusions: Appropriate diagnostic work-up and implementation of treatment can decrease long-term morbidity and improve quality of life in postoperative patients with ARMs who presents with defecation disorders., (© 2024 John Wiley & Sons Ltd.)

Objective: Congenital heart diseases (CHD) are the most frequently associated anomalies with anorectal malformations (ARM). Nevertheless, many specific aspects of CHD in ARM patients have yet to be studied. The aims of this study were to evaluate the prevalence and distribution of CHD in neonates-infants with ARM, and to explore whether the severity of ARM, and the presence of VACTERL association, had an impact on CHD rate, severity, and timing at first cardiac surgery., Study Design: All consecutive newborn-infants with ARM managed in our tertiary center (January-1999; December-2021) were collected from a prospective database and retrospectively analyzed. Prevalence and distribution of CHD in ARM patients were assessed. Patients were divided into groups depending on ARM severity and presence of VACTERL association. Pairwise comparison for CHD prevalence, severity, and timing at first cardiac surgery was performed between groups., Results: Of 396 ARM patients identified, those with severe ARM showed a higher number of overall CHD compared to patients with non-severe ARM (36.7 % vs. 25.2 %, p = 0.032). VACTERL + patients had a significantly higher prevalence of CHD (73.4 % vs. 16.4 %; p <0.001) and major CHD (51.7 % vs. 26.9 %; p = 0.008) when compared with VACTERL-patients. Furthermore, VACTERL + patients underwent first cardiac surgery at a significantly younger age than VACTERL-patients (5.2 ± 15.2 months vs. 11.9 ± 6.3, p = 0.039)., Conclusions: Patients with severe ARM had a higher number of CHD compared to patients with non-severe ARM. VATERL + patients had significantly more CHD and more severe CHD than VACTERL-patients. Early screening for CHD is strongly recommended in all newborns diagnosed with ARM before surgery., Level of Evidence: III retrospective comparative study., Competing Interests: Declaration of competing interest The authors have no financial relationships or conflicts of interest to disclose., (Copyright © 2023 Taiwan Pediatric Association. Published by Elsevier B.V. All rights reserved.)

The Kasabach-Merrit syndrome is characterized as the association of a vascular tumor, typically a caposiform hemangioendothelioma and rarely a tufted hemangioma, and a severe consumptive coagulopathy with potentially life-threatening thrombocytopenia. The severe coagulopathy with increased bleeding tendency must be considered before invasive procedures and often requires repeated platelet concentrate substitutions. We present a case of a mature male neonate with Kasabach-Merritt- Syndrome as well as VACTERL association. The VACTERL association describes a group of malformations. Our patient presented with anal atresia combined with tethered cord, and left renal agenesis. The VACTERL association as well as Kasabach-Merritt syndrome were found to be independent pathologies within this patient. A common occurrence or an association with each other has not been described in the literature so far. The challenging coagulation setting due to severe thrombocytopenia complicated the surgical management so far. Finally, mTOR-inhibitor sirolimus was successful in terms of tumor reduction and especially reduction of platelet consumption., Competing Interests: Die Autorinnen/Autoren geben an, dass kein Interessenkonflikt besteht., (Thieme. All rights reserved.)

Background: Despite the initiation of minimally invasive laparoscopic techniques, the majority of patients who undergo anorectal malformation repair still experience functional bowel issues in childhood, including constipation and fecal incontinence. In this study, we evaluate the functional outcomes of a procedure in which magnetic resonance imaging guidance is used during initial laparoscopic repair to better locate the epicenter of the sphincter muscle complex and pelvic floor with the goal of more accurate placement of the neoanus and improved functional outcomes., Methods: A retrospective chart review evaluated demographic, operative, and outcome details for patients who underwent this procedure. A telephone survey was employed to determine levels of social continence using the validated Baylor Continence Scale and to determine what type of bowel management is used., Results: Twenty-six patients were included. Median age at operation was 7 months, and median age at follow-up was 4 years old, with a range of 1-9. Bowel management regimen results revealed that 19 % (n = 5) use no bowel management regimen, 58 % (n = 15) use laxatives only, and 23 % (n = 6) use enemas. Enema use was not associated with different spine or sacral anomalies (p = 0.77). Fifteen patients (58 %) answered the Baylor Continence Scale questions and had a median score of 14. No difference was found in scores when accounting for lesion level (p = 0.43), quality of needle placement (p = 0.46), or quality of sphincter muscles (p = 0.75)., Conclusions: Using MRI guidance in the repair of anorectal malformations shows promise in both the qualitative and quantitative functional outcomes of this complex patient population., Level of Evidence: Level III., Competing Interests: Conflicts of interest None., (Copyright © 2024 Elsevier Inc. All rights reserved.)

VACTERL association is diagnosed based on the non-random co-occurrence of at least 3 out of 6 congenital malformations. The prevalence is thought to be less than 1 in 10,000 to 1 in 40,000. There is no known link between VACTERL association and metopic synostosis in the literature. There were 122 operated cases of metopic synostosis at our institution from 1999 to 2023, with a 2.3:1 male-to-female ratio. The authors describe the co-occurrence of VACTERL association and metopic synostosis in 3 female patients with no identifiable genetic variants. Given that VACTERL association is a diagnosis of exclusion, other rare syndromes were considered but ultimately excluded. This suggests that the co-occurrence of VACTERL association and metopic synostosis is a potentially rare finding, and underlying pathogenic variants are yet to be identified., Competing Interests: The authors report no conflicts of interest., (Copyright © 2024 by Mutaz B. Habal, MD.)

Objective:  Wound dehiscence after posterior sagittal anorectoplasty (PSARP) or anorectal vaginal urethroplasty (PSARVUP) for anorectal malformation (ARM) is a morbid complication. We present a novel anoplasty technique employing para-U-stitches along the anterior and posterior portions of the anoplasty, which helps buttress the midline U-stitch and evert the rectal mucosa. We hypothesized that, in addition to standardized pre- and postoperative protocols, this technique would lower rates of wound dehiscence., Materials and Methods:  A retrospective review of patievnts who underwent primary PSARP or PSARVUP with the para-U-stitch technique from 2015 to 2021 was performed. Wound dehiscence was defined as wound disruption requiring operative intervention within 30 days of the index operation. Superficial wound separations were excluded. Descriptive statistics were calculated. The final cohort included 232 patients., Results:  Rectoperineal fistula (28.9%) was the most common ARM subtype. PSARP was performed in 75% and PSARVUP in 25%. The majority were reconstructed with a stoma in place (63.4%). Wound dehiscence requiring operative intervention occurred in four patients, for an overall dehiscence rate of 1.7%. The dehiscence rate was lower in PSARPs compared with PSARVUPs (0.6 vs. 5.2%) and lower for reconstruction without a stoma compared with a stoma (1.2 vs. 2.0%). There were additional six patients (2.6%) with superficial wound infections managed conservatively., Conclusion:  We present the para-U-stitch anoplasty technique, which is an adjunct to the standard anoplasty during PSARP and PSARVUP. In conjunction with standardized pre- and postoperative protocols, this technique can help decrease rates of wound dehiscence in this patient population., Competing Interests: None declared., (Thieme. All rights reserved.)

Anorectal malformations (ARMs) represent a wide spectrum of congenital anomalies of the anus and rectum, of which more than half are syndromic. Their etiology is highly heterogeneous and still poorly understood. We report a 4-year-old girl who initially presented with an isolated ARM, and subsequently developed a global developmental delay as part of an ARID1B-related Coffin-Siris syndrome (CSS). A co-occurrence of ARMs and CSS in an individual by chance is unexpected since both diseases are very rare. A review of the literature enabled us to identify 10 other individuals with both CSS and ARMs. Among the ten individuals reported in this study, 8 had a variant in ARID1A, 2 in ARID1B, and 1 in SMARCA4. This more frequent than expected association between CSS and ARM indicates that some ARMs are most likely part of the CSS spectrum, especially for ARID1A-related CSS., Competing Interests: Declaration of competing interest The authors declare no conflict of interest., (Copyright © 2024 The Authors. Published by Elsevier Masson SAS.. All rights reserved.)

Purpose: To describe the long-term bowel function of anorectal malformation (ARM) patients and explore the potential influence factors., Methods: ARM patients with follow-up data > 10 years were included. Cases of cloaca, Currarino syndrome, and VACTERL syndrome were excluded. Rintala score and PedsQL 4.0 were used to assess bowel function score (BFS) and quality of life (QoL). Based on the results, patients were divided into satisfactory group with BFS ≥ 17 and unsatisfactory group with it < 17. Comparisons between the groups were made., Results: Among the 81 patients were 44 males and 37 females. Follow-up time was 138 (126,151) months. 16 (19.75%) patients had associated anomalies. 23 (28.40%) patients had reoperations, and fistula recurrence was the most common reason. BFS of the patients was 20 (18,20). QoL score was 100 (100,100), which correlated positively with BFS (r = 0.648, P < 0.001). The satisfactory and the unsatisfactory groups had 69 and 12 cases, and their BFS were 20 (20,20) and 11 (8,15) respectively, which had statistical difference (P < 0.001). Total QoL score and psycho-social health score of the unsatisfactory group were lower (P < 0.001). Only reoperations were statistically different between the groups (P < 0.001)., Conclusions: Long-term (> 10 years) bowel function of ARM patients is good in this study. Defecation problems have negative impacts on QoL and mainly affects their psycho-social health. Primary anorectoplasty is extremely important. Reoperations, which are most commonly seen in recto-urethral fistula recurrence, adversely affect the outcome., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Objective: VATER/VACTERL-like association is associated with adverse pregnancy outcomes. Genetic evidence of this disorder is sporadic. In this study, we aimed to provide genetic insights to improve the diagnosis of VACTERL., Methods: We have described a Chinese family in which four members were affected by renal defects or agenesis, anal atresia, and anovaginal fistula, which is consistent with the diagnosis of a VACTERL-like association. Pedigree and genetic analyses were conducted using genome and exome sequencing., Results: Segregation analysis revealed the presence of a recessive X-linked microdeletion in two living affected individuals, harboring a 196-380 kb microdeletion on Xq27.1, which was identified by familial exome sequencing. Genome sequencing was performed on the affected male, confirming a -196 kb microdeletion in Xq27.1, which included a 28% loss of the CDR-1 gene. Four family members were included in the co-segregation analysis, and only VACTERL-like cases with microdeletions were reported in X27.1., Conclusion: These results suggest that the 196-380 kb microdeletion in Xq27.1 could be a possible cause of the VATER/VACTERL-like association. However, further genetic and functional analyses are required to confirm or rule out genetic background as the definitive cause of the VACTERL association., (Copyright © 2024 The Editorial Board of Biomedical and Environmental Sciences. Published by China CDC. All rights reserved.)

Background: Long-term urinary outcomes after anorectal malformation (ARM) repair are affected by surgical approach and sacral anomalies. This study aimed to compare laparoscopic-assisted anorectoplasty (LAARP) and posterior sagittal anorectoplasty (PSARP) in terms of urinary complications., Methods: Between 2001 and 2022, 45 patients were treated with LAARP or PSARP. The rectourethral fistula and inflow angle between the fistula and rectum was confirmed by preoperative colonography. The incidence of urinary complications and treatment were compared between the two groups., Results: Four patients (14%) had remnant fistula and five patients (17%) had neurogenic bladder dysfunction in LAARP group, while three patients (18%) had urethral injury in PSARP group. All patients with remnant fistula were asymptomatic and followed without treatment. The incidence of remnant fistula improved between earlier decade and later decade. In all cases with urethral injury, suture repair was performed and no postoperative leakage was noted. All five patients with neurogenic bladder dysfunction had spine abnormalities that required clean intermittent catheterization (CIC) and two were free from CIC finally., Conclusions: It is important to check inflow angle preoperatively to prevent remnant fistula. For PSARP, meticulous dissection is required when separating fistula from urethra because they create common wall. The most contributing factor to neurogenic bladder is sacral anomalies. Preoperative evaluation and postoperative urinary drainage are important., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Objective: Children with congenital anorectal malformation (CAM) experience challenges with defecation. This study aims to assess defecation in preschool-age children with CAM and to evaluate the correlation between pelvic floor muscle developed assessed by magnetic resonance imaging (MRI) and postoperative defecation., Methods: We collected clinical data and MRI results from 89 male children with CAM. The bowel function scores for children with Perineal (cutaneous) fistula, Rectourethral fistula(Prostatic or Bulbar), and Rectovesical fistula were computed. MRI scans were subjected to image analysis of the striated muscle complex (SMC). The association between pelvic floor muscle score and bowel function score was examined using the Cochran-Armitage Trend Test., Results: We observed that 77.4% of the SMC scores by MRI for Perineal fistula were good. The Rectourethral fistula SMC score was 40.6% for moderate and 59.4% for poor. The SMC score for Rectovesical fistula was 100% for moderate. Furthermore, 77.4% of patients with Perineal fistula had bowel function scores (BFS) ≥ 17 points. Among those with Rectourethral fistula and Rectovesical fistula, 12.5% and 0 had BFS ≥ 17 points, respectively. An analysis of muscle development and bowel function in patients with Rectovesical fistula, Rectourethral fistula, and Perineal fistula revealed a correlation between SMC development and BFS. Subgroup analysis showed that the Perineal fistula had statistical significance; however, the Rectourethral fistula and Rectovesical fistula were not statistically significant., Conclusion: A correlation exists between pelvic floor muscle development and postoperative defecation in children with Perineal fistula., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Abstract: Currarino syndrome (CS) is a rare congenital syndrome characterized by a triad of anorectal malformation, sacral deformity, and presacral mass. In about 50% of cases, it is caused by HLXB9 gene mutation in chromosome 7q36. A 13-month-male child presented with presacral discharging sinus with a history of surgery for anorectal malformation and perineal fistula at the time of birth. On detailed investigation, the child revealed to have anal atresia, hemisacrum, and presacral mass. Histopathology of presacral mass showed features of immature teratoma. The presacral mass in CS is mostly an anterior myelomeningocele or presacral teratoma. The development of immature teratoma in presacral mass is very rare. The histopathological identification of immature component of teratoma in the presacral mass of CS is important for risk stratification and further management. Suspicion of CS should be raised in any child presenting with partial phenotype of the triad., (Copyright © 2024 Copyright: © 2024 Journal of Cancer Research and Therapeutics.)

The mechanism underlying anorectal malformations (ARMs)-related VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, and renal and limb abnormalities) remains unclear. Copy number variation (CNV) contributed to VACTERL pathogenicity. Here, we report a novel CNV in 8p23 and 12q23.1 identified in a case of ARMs-related VACTERL association. This 12-year-old girl presented a cloaca (urethra, vagina, and rectum opening together and sharing a single tube length), an isolated kidney, and a perpetuation of the left superior vena cava at birth. Her intelligence, growth, and development were slightly lower than those of normal children of the same age. Array comparative genomic hybridization revealed a 9.6-Mb deletion in 8p23.1-23.3 and a 0.52-Mb duplication in 12q23.1 in her genome. Furthermore, we reviewed the cases involving CNVs in patients with VACTERL, 8p23 deletion, and 12q23.1 duplication, and our case was the first displaying ARMs-related VACTERL association with CNV in 8p23 and 12q23.1. These findings enriched our understanding between VACTERL association and the mutations of 8p23 deletion and 12q23.1 duplication. IMPACT: This is a novel case of a Chinese girl with anorectal malformations (ARMs)-related VACTERL with an 8p23.1-23.3 deletion and 12q23.1 duplication. Cloaca malformation is presented with novel copy number variation in 8p23.1-23.3 deletion and 12q23.1 duplication., (© 2023. The Author(s), under exclusive licence to the International Pediatric Research Foundation, Inc.)

BACKGROUND The VACTEREL association is an acronym that includes vertebral malformations (V), anal atresia (A), cardiac defects (C), tracheoesophageal fistula (TE), renal defects (R), and limb malformations (L). The aortic arch is the section between the ascending aorta and the descending aorta, where some variants have been described, such as the right aortic arch and bovine aortic arch, among others. A rare presentation in the Natsis classification is the "type X" where a bovine aortic arch and anomalous origin of the left vertebral artery are present. Several structural cardiac malformations have been described in the VACTEREL association. Still, there is no bovine arch or an anomalous left vertebral artery. CASE REPORT Our patient was a 3-year-old boy with a diagnosis of VACTEREL association (type III esophageal atresia, congenital hip dislocation, scoliosis, bilateral clubfoot, and grade IV biliary ureteral reflux). Echocardiographic findings showed changes in the aortic arch, and angiotomography and magnetic resonance angiography showed a bovine aortic arch and an anomalous left vertebral artery. At the time of diagnosis, there were no clinical manifestations or complications due to the anomalous origin of the left vertebral artery. CONCLUSIONS This is the first description of a bovine type X arch according to the Natsis classification in a VACTEREL association. In general, knowledge of the anatomical variants of the aortic arch and the origin and course of the vertebral arteries is of great clinical and interventional importance, mainly because of the risk of cerebral ischemia.

VACTERL association is defined as the nonrandom co-occurrence of a minimum of three of the following six key components: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. Patients presenting with two components may also belong in the same spectrum. Additional components have been associated with VACTERL defects, including single umbilical artery, tethered spinal cord (TSC), and genital malformations. We observed a significant proportion of patients with bladder dysfunction (often called neurogenic bladder in the medical record) when reviewing a cohort of patients with VACTERL defects at our clinical center. Our finding calls attention to bladder dysfunction as an additional VACTERL phenotypic component. The prevalence of bladder dysfunction is greatest in those with genital anomalies, anorectal malformations, sacral dysplasia, renal anomalies, and TSC. We propose that patients with two or more VACTERL malformations be monitored for symptoms of bladder dysfunction if one or more of the identified risk factors are present until the achievement of urinary continence., (© 2023 Wiley Periodicals LLC.)

Anorectal malformations (ARMs) of the rectoperineal and rectovestibular fistula type (RPF/RVF) generally have a good prognosis but may be accompanied by bowel dysfunction, especially constipation. Bowel dysfunction in preschoolers may persist into adolescence and adulthood, exerting a negative effect on their quality of life. This study was designed to evaluate bowel function and identify the features of bowel dysfunction in preschoolers with RPF/RVF across type and sex differences. A total of 159 preschoolers with RPF/RVF (male RPF group, n = 95; female RPF group, n = 26; RVF, n = 38) and 128 normal control preschoolers (control group, n = 128; female control group, n = 35), according to the bowel function score (BFS) obtained through a questionnaire survey, the BFS items in the questionnaire, and the clinical characteristics of patients were compared among groups. The rates of bowel dysfunction (BFS < 17) were 27.2% and 50.0% in the RPF and RVF groups, respectively. Normal rates of BFS items, namely, ability to hold back defecation, feels/reports of the urge to defecate, frequency of defecation, and constipation, in the RPF and RVF groups were significantly lower than those in the control and female control groups (all p < 0.05). After subgroup analysis among the male RPF, female RPF, and RVF groups, higher rates of normal bowel function and ability to hold back defecation were found in the male RPF group than in the female RPF and RVF groups (p < 0.05). Normal rates of feels/reports of the urge to defecate were higher in the male and female RPF groups than in the RVF group (all p < 0.05). The rate of never soiling in the male RPF group was significantly higher than that in the RVF group (p < 0.05).  Conclusions: In patients with RPF/RVF, bowel dysfunction is still prevalent, characterized by inadequate ability to hold back defecation, inability to feel/report the urge to defecate, soil, less frequent defecation, and constipation. However, male RPF patients had better overall bowel function than female RPF or RVF patients, including more adequate ability to hold back defecation and feels/reports of the urge to defecate and slighter soiling, which may be linked to early age at surgery, low occurrences of low sacral ratio, and tethered cord in male RPF.  Trial registration: This study was retrospectively registered in ClinicalTrials.gov on 09/01/2023 (NCT05716230). What is Known: • Rectoperineal and rectovestibular fistula (RPF/RVF) of the anorectal malformation (ARM) type has a good prognosis but may cause bowel dysfunction, especially constipation. • Bowel dysfunction at preschool age may lead to social and psychological disorders that undermine the quality of life in adolescence and adulthood. What is New: • Bowel function in preschoolers with RPF/RVF was deeply evaluated in a relatively large number of patients and normal control children. • Features of bowel dysfunction in RPF/RVF preschoolers across type and gender differences were identified in this study., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Anorectal malformations (ARMs) constitute a group of congenital defects of the gastrointestinal and urogenital systems. They affect males and females, with an estimated worldwide prevalence of 1 in 5000 live births. These malformations are clinically heterogeneous and can be part of a syndromic presentation (syndromic ARM) or as a nonsyndromic entity (nonsyndromic ARM). Despite the well-recognized heritability of nonsyndromic ARM, the genetic etiology in most patients is unknown. In this study, we describe three siblings with diverse congenital anomalies of the genitourinary system, anemia, delayed milestones, and skeletal anomalies. Genome sequencing identified a novel, paternally inherited heterozygous Caudal type Homeobox 2 ( CDX2 ) variant (c.722A > G (p.Glu241Gly)), that was present in all three affected siblings. The variant identified in this family is absent from population databases and predicted to be damaging by most in silico pathogenicity tools. So far, only two other reports implicate variants in CDX2 with ARMs. Remarkably, the individuals described in these studies had similar clinical phenotypes and genetic alterations in CDX2 CDX2 encodes a transcription factor and is considered the master regulator of gastrointestinal development. This variant maps to the homeobox domain of the encoded protein, which is critical for interaction with DNA targets. Our finding provides a potential molecular diagnosis for this family's condition and supports the role of CDX2 in anorectal anomalies. It also highlights the clinical heterogeneity and variable penetrance of ARM predisposition variants, another well-documented phenomenon. Finally, it underscores the diagnostic utility of genomic profiling of ARMs to identify the genetic etiology of these defects., (© 2023 Ramadesikan et al.; Published by Cold Spring Harbor Laboratory Press.)

Objective: To present a unique series of children with previously repaired anorectal malformations (ARM) with subsequent urethral pathology repaired via a posterior sagittal exposure and highlight the associated technical advantages., Methods: Using a retrospective review of all procedures performed in our pediatric colorectal and pelvic reconstruction program from January 2020 through December 2022, we compiled a case series of patients with a history of ARM and prior posterior sagittal anorectoplasty (PSARP) who had urethral pathology and concurrent indication for redo-PSARP. Clinical features, operative details, and postoperative outcomes were collected., Results: Six male patients presented at a median age of 4.3 years, all born with an ARM of recto-urinary fistula type, of which 3 were recto-prostatic, 1 recto-bladder-neck, and 2 unknown type. In addition to redo-PSARP, 2 underwent remnant of the original fistula excision and 4 had urethral stricture repair. One required post-operative Heineke-Mikulicz anoplasty. Patients underwent cystoscopy 4-6 weeks post-reconstruction, and none showed urethral stricture requiring treatment. Post-procedurally, 5 patients were able to void urethrally and 1 required additional bladder augmentation/Mitrofanoff., Conclusion: Redo-PSARP completely mobilizes the rectum, thereby providing excellent exposure to the posterior urethra for repair. This approach also allows the option of a rectal flap for augmented urethroplasty as well as harvest of an ischiorectal fat pad for interposition., Competing Interests: Declaration of Competing Interest All authors have no disclosures or conflicts of interest., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Limited data on the survival of anorectal malformation (ARM) patients from lower- and middle-income countries is available. This retrospective population-based study from the State of Johor, Malaysia, determines the incidence, mortality rate, and survival of ARM patients and factors associated with mortality. Kaplan-Meier survival analysis was used to estimate the survival of ARM patients at 1, 5, and 10 years. In addition, multivariate Cox regression analysis was used to analyze mortality-related factors. There were 175 ARM patients among 803,850 live births, giving an overall ARM incidence of 2.2 (95% confidence interval [CI], 1.9 to 2.5) per 10,000 live births. The male-to-female ratio was 1.5:1. There were 122 (69%) non-isolated ARM, of which 41 were Trisomy-21 and 34 had VACTERL association. Seventy-three (42%) had congenital heart disease (CHD), with 38 severe and 35 non-severe CHD. Overall, 33 (19%) patients died, with a median age of death of 5.7 months (interquartile range (IQR) 25 days to 11.2 months). The overall estimated 1-, 5-, and 10-year survival rate for ARM patients was 82% (95% CI, 76-89%), 77% (95% CI, 70-84%), and 77% (95% CI, 70-84%), respectively. Univariate analysis shows that non-isolated ARM, VACTERL association, and severe CHD were associated with mortality. However, only severe CHD is the independent factor associated with mortality, with a hazard ratio of 4.0 (95% CI, 1.9-8.4).  Conclusion: CHD is common among ARM patients, and one in five ARM patients had a severe cardiac defect, significantly affecting their survival. What is Known: • VACTERL association and congenital heart disease are common in patient with anorectal malformation. • Low birth weight and prematurity are associated with a lower rate of survival. What is New: • Congenital heart disease is common in ARM patients in a middle-income country. • Severe congenital heart disease plays a significant role in the survival of patients with an anorectal malformation in lower- and middle-income countries., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

This study aimed to compare and analyze the postoperative complications and anal function after 3-stage laparoscopic-assisted anorectoplasty (LAARP) and conventional posterior sagittal anorectoplasty (PSARP) in the treatment of moderate to severe anal atresia in children. A total of 27 children with moderate to severe anal atresia who underwent conventional PSARP at the Dongguan Children Hospital between 2007 and 2011 were included in the control group, and 34 children with moderate to severe anal atresia who underwent 3-stage LAARP between 2012 and 2016 were included in the observation group. The incidence of postoperative complications and Kelly score of anal function in the 2 groups were statistically analyzed and the efficacy of the 2 procedures compared. The incidence of postoperative complications such as wound infection, anal stenosis, anastomotic leakage, fecal incontinence, and constipation in the LAARP group was lower as compared with the PSARP group, and there was a statistically significant difference (P < .05). There was no significant difference in the incidence of postoperative complications such as rectal prolapse, diarrhea, and recurrent fistula between the LAARP group and the PSARP group (P > .05). The Kelly score of anal function was higher in the LAARP group than in the PSARP group, and the difference was statistically significant (P < .05). Compared to conventional PSARP, laparoscopic surgery for moderate to severe anal atresia in children has less complications, improved anal function, and a clear therapeutic impact., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.)

Due to the controversy on the feasibility of laparoscopic-assisted anorectoplasty (LAARP) for the treatment of the anorectal malformation (ARM) with rectobulbar fistula (RBF), this study aimed to compare the outcomes of LAARP and posterior sagittal anorectoplasty (PSARP) for ARM with RBF. Demographic data, postoperative complications, and bowel function of RBF patients who underwent LAARP and PSARP at 2 medical centers from 2016-2018 were retrospectively reviewed. Eighty-eight children with RBF were enrolled, including 43 in the LAARP group and 45 in the PSARP group. There were no significant differences in the sacral ratio (P = .222) or sacral agenesis (P = .374). Thirty-seven and 38 patients in the LAARP and PSARP groups were followed up for a median of 4.14 years. The postoperative complications were comparable between the groups (P = .624), with no cases of urethral diverticulum. The urination of all cases was normal and no evidence of cyst formation was found on MCU or MRI during the follow-up period. The incidence of rectal prolapse was similar between the 2 groups (9.3% vs 17.8%, P = .247). The groups had equivalent Bowel Function Score (15.29 ± 2.36 vs 15.58 ± 2.88, P = .645), but the LAARP group had better voluntary bowel movement (94.6% vs 84.2%, P = .148) by Krickenbeck classification. The intermediate-term outcomes of LAARP show that the urethral diverticulum was rare by the intraluminal incision of the fistular and the bowel function was comparable to that of PSARP in ARM with rectobulbar fistula. However, LAARP was associated with smaller perineal wounds., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.)

Purpose: First, to assess the number of patients with anorectal malformations (ARM) in whom additional urological and/or gynecological anomalies were identified through routine screening with cysto- or vaginoscopy prior to reconstructive surgery. Second, to assess potential procedure-related complications., Methods: Retrospective mono-center cohort study, including all ARM patients born between January 2019 and December 2022. Routine screening consisted of cystoscopy for male patients, with the addition of vaginoscopy for female patients. Chi-square was used to compare the screening percentages over time., Results: In total, 38 patients were included, of whom 27 (71.1%) underwent cystoscopy ± vaginoscopy, without the occurrence of complications. Nine of 13 females (69.2%) underwent cysto- and vaginoscopy and 18 of 25 males (72.0%) underwent a cystoscopy. The percentage of patients that underwent these procedures improved over the 2 time periods (50.0% in 2019-2020 vs 90.0% in 2021-2022, p = 0.011). In 15 of 27 patients (55.6%) that underwent cystoscopy ± vaginoscopy, additional anomalies were found that were not identified through physical examination or US-kidney., Conclusions: In 56% of the patients that underwent cysto- ± vaginoscopy, additional anomalies were identified that were not with imaging studies or physical examination. This study emphasizes the potential benefit of routine cysto- and vaginoscopy in the diagnostic work-up of children with ARM., Level of Evidence: III., (© 2023. The Author(s).)

Purpose: Perioperative and early post-operative outcomes of Primary Posterior sagittal anorectoplasty (P-PSARP) were evaluated., Method: Retrospective analysis of cases who underwent P-PSARP from 2004 to 2019 was done. Perioperative care, management, complications, voluntary bowel movement, soiling and constipation, graded by Krickenbeck criteria were studied., Results: One hundred fifty six patients (134 girls) underwent P-PSARP at median age of 5 months (3 months to 14 years) in girls and 5(1-10) days in 21 boys. One male cloaca was operated at 5 months age. Of 20 boys, 5, 8, 4, 3 had rectobulbar urethral fistula, rectoprostatic urethral fistula, bladder neck fistula and male cloaca. Girls had vestibular fistula, rectovaginal fistula, vulval anus, anterior ectopic anus, pouch perineal fistulae and posterior anus with H type fistula in 114, 7, 6, 5, 1 and 1. Complications included wound infection, excoriation, oedema, mucosal prolapse, anal stricture, anal retraction and mortality in 6, 4, 5, 4, 4, 1 and 1, respectively. 35/155(12 neonates) required postoperative dilatations for 5(1-12) months. At follow-up, 96/114(84.2%) had voluntary bowel movements. 46/155 (29.7%) and 9/155 had constipation and soiling. 32:14:0 had grade 1:2:3 constipation, treated with diet (grade 1) and laxatives (grade 2) respectively. 4:3:2 had grade 1:2:3 soiling for initial 3 months, treated with bowel management programme., Conclusion: P-PSARP is feasible, subject to proper case selection and good perioperative care, once learning curve is achieved., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: To provide a high-fidelity, animal tissue-based model for the advanced surgical simulation of a Posterior Sagittal Anorectoplasty (PSARP) for rectovestibular fistula in anorectal malformation (ARM)., Materials and Methods: A chicken cadaver was used to assess the feasibility of simulating a PSARP for rectovestibular fistula in ARM. No modification was required to implement the surgical simulation., Results: A detailed description of the high-fidelity surgical simulation model is provided. The PSARP can be simulated while providing realistic anatomy (e.g. common wall between rectovestibular fistula and vagina), adequate rectal size, location and placement of the rectovestibular fistula, and proximity to the vagina. Haptic conditions of the tissue resemble human tissue and operative conditions as well., Discussion: Concerning the decreased exposure of index cases of pediatric surgical trainees and pediatric surgeons in practice, simulation-based training can provide means to acquire or maintain the necessary skills to perform complex surgical procedures [1-5] Surgical simulation models for ARM are limited. Few low-cost trainers are available with predominant artificial and mostly unrealistic tissue [6-8] Animal models have the advantage of realistic multilayer tissue haptic feedback [6]., Conclusion: We provide a low-cost, high-fidelity model for correcting a rectovestibular fistula in a child with ARM, a complex operative procedure with low incidence but high-stake outcomes. The described tissue model utilizing the chicken cloaca anatomy provides a high-fidelity model for operative correction of rectovestibular ARM. For simulation purposes in the treatment of ARM, this model appears to be promising in terms of providing realistic pathology and haptic feedback in pediatric dimensions., Level of Evidence: V., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Background: In children with anorectal malformations (ARM), additional anomalies can occur within the VACTERL-association. Routine screening is of great importance for early identification and potential treatment. However, uniformity in screening protocols is lacking and only small cohorts have been described in literature. The aim of this study was to assess and describe a unique large cohort of ARM patients who underwent VACTERL screening in the neonatal period., Methods: A retrospective mono-center cohort study was performed. Included were all neonates born between January 2000 and December 2020 who were diagnosed with ARM and screened for additional anomalies. Full screening consisted of x-ray and ultrasound of the spine, cardiac and renal ultrasound, and physical examination for limb deformities, esophageal atresia, and ARM. Criteria for VACTERL-classification were predefined according to the EUROCAT-definitions., Results: In total, 216 patients were included, of whom 167 (77.3%) underwent full VACTERL-screening (66% in 2000-2006 vs. 82% in 2007-2013 vs. 86% in 2014-2020). Median age at follow-up was 7.0 years (IQR 3.0-12.8). In 103/167 patients (61.7%), additional anomalies were identified. Some 35/216 patients (16.2%) fulfilled the criteria of a form of VACTERL-association. In 37/216 patients (17.1%), a genetic cause or syndrome was found., Conclusions: The majority of ARM patients underwent full screening to detect additional anomalies (77%), which improved over time to 86%. Yet, approximately a quarter of patients was not screened, with the potential of missing important additional anomalies that might have severe consequences in the future. Forms of VACTERL-association or genetic causes were found in 16% and 17% respectively. This study emphasizes the importance of routine screening., Level of Evidence: III., (Copyright © 2022 The Author(s). Published by Elsevier Inc. All rights reserved.)

Background: VACTERL association consists of Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Renal, and Limb defects. The diagnosis depends on the presence of at least three of these structural abnormalities. Methods: The clinical presentation and diagnostic prenatal imaging of VACTERL association are comprehensively reviewed. Results: The most common feature is a vertebral anomaly, found in 60-80% of cases. Tracheo-esophageal fistula is seen in 50-80% of cases and renal malformations in 30% of patients. Limb defects including thumb aplasia/hypoplasia, polydactyly, and radial agenesis/hypoplasia are present in 40-50% of cases. Anorectal defects, like imperforate anus/anal atresia, are challenging to detect prenatally. Conclusion: The diagnosis of VACTERL association mostly relies on imaging techniques such as ultrasound, computed tomography, and magnetic resonance. Differential diagnosis should exclude similar diseases such as CHARGE and Townes-Brocks syndromes and Fanconi anemia. New insights into genetic etiology have led to recommendations of chromosomal breakage investigation for optimal diagnosis and counseling.

Purpose: To assess the number, characteristics, and functional short-, and midterm outcomes of patients with rectal atresia (RA) and stenosis (RS) in the ARM-Net registry., Methods: Patients with RA/RS were retrieved from the ARM-Net registry. Patient characteristics, associated anomalies, surgical approach, and functional bowel outcomes at 1 and 5-year follow-up were assessed., Results: The ARM-Net registry included 2619 patients, of whom 36 (1.3%) had RA/RS. Median age at follow-up was 7.0 years (IQR 2.3-9.0). Twenty-three patients (63.9%, RA n = 13, RS n = 10) had additional anomalies. PSARP was the most performed reconstructive surgery for both RA (n = 9) and RS (n = 6) patients. At 1-year follow-up, 11/24 patients with known data (45.8%, RA n = 5, RS n = 6) were constipated, of whom 9 required stool softeners and/or laxatives. At 5-year follow-up, 8/9 patients with known data (88.9%, RA n = 4, RS n = 4) were constipated, all requiring laxatives and/or enema., Conclusion: RA and RS are rare types of ARM, representing 1.3% of patients in the ARM-Net registry. Additional anomalies were present in majority of patients. Different surgical approaches were performed as reconstructive treatment, with constipation occurring in 46% and 89% of the patients at 1 and 5-year follow-up. However, accurate evaluation of long-term functional outcomes remains challenging., (© 2023. The Author(s).)

Background/purpose: Congenital megarectum (CMR) is sometimes associated with anorectal malformations (ARM), although there is no established therapeutic strategy. This study aims to clarify the clinical features of ARM with CMR, and to demonstrate the effectiveness of a surgical treatment, namely laparoscopic-assisted total resection and endorectal pull-through technique., Methods: We conducted a review of the clinical records of the patients with ARM with CMR treated at our institution between January 2003 and December 2020., Results: Seven of 33 cases of ARM (21.2%) were diagnosed with CMR, four males and three females. The types of ARM were 'intermediate' in four, and 'low' in three patients. Five of the seven patients (71.4%) required resection of megarectum for intractable constipation and underwent laparoscopic-assisted total resection and endorectal pull-through technique. Bowel function was improved after resection in all five cases. All five specimens showed hypertrophy of the circular fibers, and three of them showed abnormal location of ganglion cells within the circular muscle fibers., Conclusions: CMR often causes intractable constipation and requires resection of the dilated rectum. Laparoscopic-assisted total resection and endorectal pull-through technique for ARM with CMR considered to be an effective, minimally invasive treatment for intractable constipation., Level of Evidence for Clinical Research Papers: Level Ⅳ., Type of Study: Treatment study., (Copyright © 2023 Elsevier Inc. All rights reserved.)