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Purpose: The aim was to investigate sexual function and fertility in female adults operated on for anorectal malformations (ARM). Methods: This was a cross-sectional questionnaire-based study including female adult patients treated for ARM at our institution between 1994 and 2003. Sexual function in females was assessed using the Profile of Sexual Function (PFSF). Additional questions regarding fertility were answered by the participants. Patient characteristics were retrospectively retrieved from the medical records and descriptive statistics were used for analysis. Sexual function outcomes were compared to a control group from a previously published group of females. Composite outcome analysis was performed using previously published data to determine the potential impact of bowel function and health-related quality of life on sexual function. The ethics review authorities approved the study. Results: A total of 14 of 30 (46.7%) females responded to the questionnaires and had a mean age of 21.1 years (range 18–26). No association was found between PFSF and age or bowel function (Bowel Function Score), however, a strong correlation was found between PFSF and health-related quality of life (HRQoL) with a Spearman correlation of ρ 0.82 (p = 0.0011). The general satisfaction question was strongly associated with their total PFSF score (ρ = 0.71, p = 0.0092). Except for the "desire" item, the females in this cohort did not have significantly worse sexual function than the control population(p = 0.015). Ten of fourteen (71.4%) females had had their sexual debut at a mean age of 16.3 years and two of these women (20%) have been pregnant. All females had had menarche at a mean age of 12.7 years. Conclusion: Sexual function in adult females was comparable to healthy controls except for the "desire" item where the cohort reported poorer outcomes. The cohort's sexual function had a direct association with their reported HRQoL where individuals with worse HRQoL also reported poorer sexual function. Level of evidence: III [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

To evaluate the necessity of performing whole spine magnetic resonance imaging (MRI) as opposed to solely lumbosacral MRI for detecting high-level spinal lesions (in the brain, cervical, or thoracic spine) in patients with anorectal malformations (ARM). This retrospective cohort study included 69 patients treated for ARM at a medical center between January 2011 and January 2022. Before March 2021, lumbosacral MRI was used for patients with ARM. Since March 2021, anomalies in the posterior cranial fossa and whole spine were assessed using routine MRI. Both male (n = 30, 43.4%) and female patients were included in the study. Out of the 69 patients, 19 (27.5%) underwent whole spine MRI, and 50 (72.5%) underwent lumbosacral MRI. In the whole spine group, 4 patients had anomalies beyond the lumbosacral area. In the lumbosacral group, 4 patients subsequently underwent whole spine MRI due to symptoms, with 3 revealing higher-level anomalies.High-level spinal and brain anomalies, although infrequent, are present in patients with ARM. The findings suggest considering routine whole spine MRI in screening ARM patients to avoid missing high-level anomalies. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Continence issues due to organic causes including previous colorectal surgery or neurological issues might benefit from Transanal irrigation (TAI) that proved to be highly effective but with a number of limitations including a relatively high discontinuation rates. Our study was aimed at evaluating the efficacy of an advanced protocol tailored to each patient to prevent dropout and increase satisfaction, independence, and quality of life. This was a prospective, interventional, multicenter, nonrandomized study involving children aged 4–18 years with bowel dysfunction unresponsive to conventional treatments who required TAI. TAI was performed in accordance to the best standards of care with a total irrigation volume that was determined based on low emission X-Ray barium enemas performed at the very beginning of the study. All patients underwent training and assessments of continence, patients' perspectives and quality of life were performed at different timepoints from enrollment (T0) up to 6 months since TAI was introduced (T3). A total of 78 patients were enrolled. Male to female ratio was 1.4:1. Mean age at enrollment was 106.1 ± 42.8 months. Discontinuation was reported by 3 patients (3.8 %). Continence, satisfaction and a number of other outcome measures increased from baseline (T0) to the last visit (T3). In particular, mean Rintala total score increased linearly from 7.8 to 14.8 during the study period (T0 to T3 timepoints). On a multivariate analysis, the only parameter that proved to be inversely associated with continence as well as with other outcome measures was the use of laxatives at enrollment and during the study. This study has demonstrated the high efficacy of this innovative patient-tailored TAI protocol across all assessed scores. Of note, given the negative impact of laxatives, our findings suggest limiting their use in this patient population to further increase the efficacy of the procedure. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Abstract To evaluate the necessity of performing whole spine magnetic resonance imaging (MRI) as opposed to solely lumbosacral MRI for detecting high-level spinal lesions (in the brain, cervical, or thoracic spine) in patients with anorectal malformations (ARM). This retrospective cohort study included 69 patients treated for ARM at a medical center between January 2011 and January 2022. Before March 2021, lumbosacral MRI was used for patients with ARM. Since March 2021, anomalies in the posterior cranial fossa and whole spine were assessed using routine MRI. Both male (n = 30, 43.4%) and female patients were included in the study. Out of the 69 patients, 19 (27.5%) underwent whole spine MRI, and 50 (72.5%) underwent lumbosacral MRI. In the whole spine group, 4 patients had anomalies beyond the lumbosacral area. In the lumbosacral group, 4 patients subsequently underwent whole spine MRI due to symptoms, with 3 revealing higher-level anomalies.High-level spinal and brain anomalies, although infrequent, are present in patients with ARM. The findings suggest considering routine whole spine MRI in screening ARM patients to avoid missing high-level anomalies.

Background Anorectal malformations (ARMs) are complex congenital anomalies. The corrective operation is demanding and schedulable. Based on complete national data, patterns of care have not been analyzed in Germany yet. Methods All cases with ARM were analyzed (1) at the time of birth and (2) during the hospital stay for the corrective operation, based on the national hospital discharge data (DRG statistics). Patient's comorbidities, treatment characteristics, hospital structures, and the outcome of corrective operations were analyzed with respect to the hospitals' caseload. Results From 2016 to 2021, 1,726 newborns with ARM were treated at the time of birth in 388 hospitals. Of these hospitals, 19% had neither a pediatric nor a pediatric surgical department. At least one additional congenital anomaly was present in 49% of cases and 7% of the newborns had a birthweight below 1,500 g. In all, 2,060 corrective operations for ARM were performed in 113 hospitals in the same time period. In 24.5% of cases, at least one major complication was documented. One-third of the operations were performed in 56 hospitals, one-third in 20 hospitals, and one-third in 10 hospitals with median annual case numbers of 2, 5, and 10, respectively. Hospitals with the highest caseload operated cloacal defects more often than hospitals with the lowest caseload (7 vs. 2%) and had more early complications than hospitals with the lowest caseload (30 vs. 21%). This difference was not statistically significant after risk adjustment. Conclusions Children with ARM are multimorbid. Early complications after corrective surgery are common. Considering the large number of hospitals with a very low caseload, centralization of care for the complex and elective corrective surgery for ARM remains a key issue for quality of care. [ABSTRACT FROM AUTHOR]

Introduction Children with anorectal malformations (ARMs) benefit from bowel management programs (BMPs) to manage constipation or fecal incontinence. We aimed to understand the role of social determinants of health (SDOH) in outcomes following BMPs in this population. Materials and Methods A single-institution, institutional review board (IRB) approved, retrospective review was performed in children with ARM who underwent BMP from 2014 to 2021. Clinical, surgical, and SDOH data were collected. Children were stratified as clean or not clean per the Rome IV criteria at the completion of BMP. Descriptive statistics were computed. Categorical variables were analyzed via Fisher's exact tests and continuous variables with Mood's median tests. Results In total, 239 patients who underwent BMP were identified; their median age was 6.62 years (interquartile range [IQR]: 4.78–9.83). Of these, 81 (34%) were not clean after completing BMP. Children with prior history of antegrade enema procedures had a higher rate of failure. Children who held public insurance, lived within driving distance, had unmarried parents, lived with extended family, and lacked formal support systems had a significant association with BMP failure (p < 0.05 for all). Type of ARM, age at repair, type of repair, age at BMP, and type of BMP regimen were not significantly associated with failure. Conclusions There is a significant correlation of failure of BMPs with several SDOH elements in patients with ARM. Attention to SDOH may help identify high-risk patients in whom additional care may lead improved outcomes following BMP. [ABSTRACT FROM AUTHOR]

Purpose All types of cloacal malformations may be associated with anatomic variations of the external genitalia, including hypoplasia of the labia minora and enlarged clitoris; these variations could be even higher in posterior cloacas (PCs). If a careful physical examination is not performed, patients may be misdiagnosed with ambiguous genitalia (AG), leading to subsequent unnecessary testing, surgeries, or even wrong gender assignment. The aim was to analyze data of patients with PC within the ARM-Net registry, focusing on the description of the genitalia, gender assignment, and its consequences. Additionally, we investigated the presence of AG diagnosis in utero or at birth in patients with PC in the literature. Methods The ARM-Net registry was scanned for PC cases and data on diagnosis were collected. A systematic literature search was conducted using the PubMed, EMbase, and Web-of-Science databases. Descriptive statistics was used to report data. Results Nine patients with PC were identified in the ARM-Net registry. Five patients (55%) were diagnosed with AG, two (22%) were assigned as males and only two patients were correctly assigned as females and diagnosed with PC with respective variations of external genitalia. All patients diagnosed with AG had extensive blood testing including karyotype and hormonal studies. One of the patients who was diagnosed as a male, had surgery for pelvic cystic mass removal, which ultimately led to unaware salpingo-oophorectomy, hysterectomy, and vaginectomy. In the literature we identified 60 patients, 14 (23%) with AG, 1 with clitorolabial transposition and 1 with undeveloped vulva and vagina; 4 patients had normal anatomy. In 40 (67%) patients the anatomy of genitalia was not mentioned. Conclusion Patients with PC are at high risk of being diagnosed with AG or even assigned the wrong gender at birth. In our series two patients were assigned as males, and consequently one of them underwent a highly mutilating surgery. A thorough physical examination together with a high index of suspicion and laboratory workup are mandatory to identify these variations, avoiding further investigations, unnecessary surgeries, and parental stress. [ABSTRACT FROM AUTHOR]

Introduction: Reconstruction of a cloacal defect in a girl is often difficult and complicated.[1] This is most often done either by the sacro-perineal route or through the posterior sagittal route.[2] The procedures may involve total mobilization of the cloaca with or without the creation of a lower vagina with the help of a loop of vascularized bowel.[3] In our approach, such defects can be corrected using the lower anorectum for the creation of a lower vagina and abdominoperineal pull-through of the proximal divided bowel. This method can be used both in short and long common channel cloaca. Materials and Methods: We have used this procedure in one patient of posterior cloaca and four patients of anterior cloaca. These operations were done in patients of 1 year and 6 months to 4 years. Only one patient is waiting for the closure of the colostomy. Results: In all the cases, the urethra, the vagina, and the anus were successfully separated. Conclusion: This operation restores normal pelvic anatomy and physiology with minimal mutilation of the pelvic floor.

Abstract Background Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by imperforate anus, dysplastic ears, thumb malformations, and other abnormalities. Previous studies have revealed that mutations in the SALL1 gene can disrupt normal development, resulting in the characteristic features of Townes-Brocks syndrome. Spalt-like transcription factors (SALLs) are highly conserved proteins that play important roles in various cellular processes, including embryonic development, cell differentiation, and cell survival. Over 400 different variants or mutations have been reported in the SALL1 gene in individuals with TBS. Most of these variants lead to the formation of premature termination codons (PTCs), also known as nonsense mutations. The majority of these PTCs occur in a specific region of the SALL1 gene called the “hotspot region”, which is particularly susceptible to mutation. Methods In this study, we conducted whole-exome sequencing on a three-generation Chinese family with anorectal malformations. Results We identified a novel heterozygous mutation (chr16:51175376:c.757 C > T p.Gln253*) in the SALL1 gene. Molecular analysis revealed a heterozygous C to T transition at nucleotide position 757 in exon 2 of the SALL1 (NM_002968) gene. This mutation is predicted to result in the substitution of the Gln253 codon with a premature stop codon (p.Gln253*). The glutamine-rich domain forms a long alpha helix, enabling the mutant protein to interact with the wild-type SALL1 protein. This interaction may result in steric hindrance effects on the wild-type SALL1 protein. Conclusions Our findings have expanded the mutation database of the SALL1 gene, which is significant for genetic counseling and clinical surveillance in the affected family. Furthermore, our study enhances the understanding of Townes-Brocks syndrome and has the potential to improve its diagnosis and treatment.

Derya Suluhan,1 Rahma Yusuf Haji Mohamud2 1Department of Pediatric Nursing, Gulhane Faculty of Nursing,University of Health Sciences Türkiye, Ankara, Türkiye; 2Department of Education, Mogadishu Somalia-Turkey Recep Tayyip Erdo&gbreve;an Training and Research Hospital, Mogadishu, SomaliaCorrespondence: Rahma Yusuf Haji Mohamud, Department of Education, Mogadishu Somalia-Turkey Recep Tayyip Erdogan Training and Research Hospital, Mogadishu, Somalia, Tel +252615216313, Email samiihayusuf@gmail.comBackground: Treatment of anorectal malformations (ARM) and the management of clinical outcomes are challenging for families. While most studies focus on mothers suffering from care burden, high stress, and low quality of life, there is limited knowledge of what fathers of children with ARM experience; therefore, this study aimed to examine how both mothers and fathers have experience caring for children with ARM and how beliefs and cultural issues affect the perception of congenital anomalies.Methods: A qualitative design. Consolidated criteria for reporting the qualitative research guidelines were used in this study. The guidelines for thematic analysis were followed for data analysis.Results: Ten mothers and six fathers were interviewed, and their mean age was 32.5 ± 4.2 years. Of the 75% (n = 12) illiterate and 93.7% (n = 15) had an expanded family type, all their religious affiliations were Muslim. The four main themes were (1) ambiguity, (2) challenges, (3) stigma, and (4) coping, which were determined in line with the results of the data analysis of parents’ views on having and caring for children with ARM.Conclusion: In this study, many Somali parents reported that they lacked disease and treatment knowledge, physical exhaustion, and some difficulties related to a lack of access to the hospital because of living in rural areas, caring for the child, and dealing with long-term complications, colostomy, anal dilatation, and enema before or after anoplasty. While all parents mentioned that having a child with ARM was a fate, it was seen as punishment by their close social environment. Consequently, this study could serve as a foundation for planning comprehensive healthcare and physical and psychosocial support for multidisciplinary health professionals.Keywords: anorectal malformation, pediatric colorectal, parenting, quality of life, care burden, congenital abnormalities

Purpose: Early post-operative fever (< 48 h) is common in adults and children and seldom indicative of an infection. Guidance to limit excessive evaluation in adults is well-characterized but similar studies for the pediatric population is scarce. This study was performed to better clarify which infants should undergo investigation for post-operative fever after colorectal reconstructive surgical procedures. Methods: We performed a retrospective chart review of all infants under one year of age who underwent elective reconstruction for anorectal malformations (ARM) and Hirschsprung Disease (HD) between June 2018 and April 2020 at a single institution. Patient and perioperative characteristics were analyzed to evaluate for possible factors associated with infection. Results: Sixty-eight infants met study criteria – 38 (55.9%) had HD and 30 (44.1%) had ARM. Twenty-two infants (32.4%) had early post-operative fever. A definitive infectious cause was identified in only two infants. The presence of a colostomy pre-operatively and longer operative times were associated with increased risk of post-operative fever (62.5% vs. 22.7% and 175 min vs. 150 min respectively, p < 0.05). Conclusion: Early post-operative fever in infants after colorectal surgery is common and rarely associated with an infection. Further research is needed to determine which infants require further work-up and which can be safely observed. [ABSTRACT FROM AUTHOR]

Introduction: Anorectal malformation (ARM) is one of the most common congenital anomalies found in pediatric surgery. The consensus asserts that fecal continence represents the most crucial endpoint in patients with anorectal malformations post-definitive surgery. We aimed to analyze the functional outcomes in ARM patients after a definitive surgery using Rintala scoring. Methods: This study was a retrospective design using medical records of ARM patients who underwent a definitive surgery at our institution from 2012 to 2016. Results: Forty-five ARM patients were ascertained in this study, of whom 25 were males and 20 were females. There are 66.7% of patients with high lesions and 33.3% of patients with low lesions. Most patients showed the ability to withhold defecation and experience the urge to defecate (48.9%) and defecation frequency of every day or twice a day (66.7%). Soiling was identified in 11.1% of subjects, while constipation was found in 22.2% of patients. None of the patients revealed accidents and social problems. High lesion ARM patients showed worse for having the ability to withhold defecation/sensation of the urge to defecate (OR=5.29, 95% CI=1.44-19.45) than low lesion ARM subjects (p=0.010). In addition, high lesion ARM patients showed a higher risk of having abnormal Rintala score (OR=5.11, 95% CI=1.33-19.72) than low lesion ARM subjects (p=0.014). Conclusion: Our study shows relatively good functional outcomes of ARM patients following definitive surgery. High lesions of ARM might affect the ability to hold back defecation, feels the urge to defecate, and the overall Rintala score in ARM patients after definitive surgery [ABSTRACT FROM AUTHOR]

Constipation is common in childhood, and most patients can be successfully managed by their primary care provider. However, some patients will require more specialized management either due to an underlying congenital colorectal disorder such as Hirschsprung disease or anorectal malformation or due to severe functional constipation that is refractory to medical management. [ABSTRACT FROM AUTHOR]

As pediatric patients with colorectal diseases grow, it is important to address transition to adult practice. We aim to describe our center's transition process and early outcomes. We developed a standardized process for transition to adult practice. An annual survey is given to parents and caregivers starting at age 12 that assesses knowledge of disease, independence with healthcare tasks, and confidence and interest regarding transition. After multidisciplinary review, those eligible are recommended for transition. Those not referred are provided with tools to help with areas of weakness. Outcomes were analyzed with descriptive and regression analyses (significance at p ≤ 0.05). A total of 116 patients were evaluated, with 80 patients (69.0%) recommended for transition. Median age at survey was 15.5 years [IQR: 13.7–18.1], and those recommended were older (16.6 years [IQR: 14.7–19.4] vs 13.5 years [IQR: 12.5–14.9], p < 0.001)). Primary diagnosis and gender were not associated with recommendation for transition. Overall, a minority (18.1%) were able to complete healthcare tasks; this correlated strongly with transition recommendation (26.3% vs 0.0%, p < 0.0001). On regression controlling for age, diagnosis, knowledge, and confidence, age (aOR 1.98, 95% CI 1.44–2.71) and confidence (aOR 3.78, 95% CI 1.29–11.11) independently predicted transition recommendation. A standardized approach may be effective in transitioning patients from pediatric to adult colorectal surgery practice. Patients who transition are more confident and can perform healthcare tasks independently; however, these skills are not essential prior to a recommendation of transition. III. • A standardized approach to transition to adult practice can be useful in identifying pediatric patients ready for transition to adult practice and successfully transitioning these patients. • Factors that aligned with successful transition recommendation in this sample included older age, ability to perform healthcare tasks independently, and confidence with transition to adult practice. [ABSTRACT FROM AUTHOR]

Antegrade colonic enemas (ACE) can be an effective management option for defecation disorders and improve quality of life. Best practice regarding channel placement is unclear and variation may exist around preferred initial type of channel, age at placement, and underlying diagnoses. We aimed to describe practice patterns and patient characteristics around ACE channel placement. We conducted a multicenter retrospective study of children with an ACE channel cared for at sites participating in the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) from 2017 to 2022. Kruskal–Wallis test was utilized to test the age at surgery by site with significance level of 0.05. 500 patients with ACE channel were included. 293 (58.6%) patients had their ACE procedure at a PCPLC center. The median age at surgery was 7.6 [IQR 5.3–11.0] years for the overall cohort and 8.1 [IQR 5.3–11.5] years for placement at PCPLC centers. For PCPLC centers, median age at placement varied significantly across centers (p = 0.009). 371 (74.2%) patients received Malone appendicostomy, 116 (23.2%) received cecostomy, and 13 (2.6%) received Neo-Malone appendicostomy. Median age of patients by channel type was 7.7 [IQR 5.3–11.0], 7.5 [IQR 5.7–11.0], and 9.8 [IQR 4.2–11.6] years, respectively. The most common indication for cecostomy was idiopathic/refractory constipation (52.6%), whereas anorectal malformation was the most common indication for Malone (47.2%) and Neo-Malone (61.5%). Among ACE channels placed at PCPLC centers, there was variation across institutions in preferred initial channel type. The 4 highest volume centers favored Malone appendicostomy over cecostomy. There is variation in practice of ACE channel placement. At specialty pediatric colorectal centers, age at time of placement and type of channel placed varied across institutions. Further work is needed to better characterize diagnosis- and age-focused patient centered outcomes to clarify recommendations for our patients who benefit from these procedures. Retrospective comparative study. Level III. [ABSTRACT FROM AUTHOR]

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. 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. 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. 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. III. [ABSTRACT FROM AUTHOR]

This study describes the presentation and initial management of anorectal malformation (ARM); evaluating the frequency, causes and consequences of late diagnosis. 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. 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. 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. II (Prospective Cohort Study <80% follow-up). [ABSTRACT FROM AUTHOR]

Vesico-ureteral reflux (VUR) is a common associated urological anomaly in anorectal malformation (ARM)-patients. High-grade VUR requires antibiotic prophylaxis to prevent urinary tract infections (UTI's), renal scarring and -failure. The exact prevalence of high-grade VUR in ARM patients is unknown. Hence, the aim of this study was determining the incidence of high-grade VUR in ARM-patients, and its associated risk factors. A multicenter retrospective cohort study was performed using the ARM-Net registry, including data from 34 centers. Patient characteristics, screening for and presence of renal anomalies and VUR, sacral and spinal anomalies, and sacral ratio were registered. Phenotypes of ARM were grouped according to their complexity in complex and less complex. Multivariable analyses were performed to detect independent risk factors for high-grade (grade III-V) VUR. This study included 2502 patients (50 % female). Renal screening was performed in 2250 patients (90 %), of whom 648 (29 %) had a renal anomaly documented. VUR-screening was performed in 789 patients (32 %), establishing high-grade VUR in 150 (19 %). In patients with a normal renal screening, high-grade VUR was still present in 10 % of patients. Independent risk factors for presence of high-grade VUR were a complex ARM (OR 2.6, 95 %CI 1.6–4.3), and any renal anomaly (OR 3.3, 95 %CI 2.1–5.3). Although renal screening is performed in the vast majority of patients, only 32 % underwent VUR-screening. Complex ARM and any renal anomaly were independent risk factors for high-grade VUR. Remarkably, 10 % had high-grade VUR despite normal renal screening. Therefore, VUR-screening seems indicated in all ARM patients regardless of renal screening results, to prevent sequelae such as UTI's, renal scarring and ultimately renal failure. Observational Cohort-Study. III. [ABSTRACT FROM AUTHOR]

Aim: To study the published literature on robotic-assisted pull-through procedures for anorectal malformation. Method: A PubMed search was done on 10th April 2024, with the words "robotic AND Anorectal malformation". The articles were screened for relevance and the data were compiled on the safety, feasibility, technical details, and limitations of robotic-assisted procedures in children for anorectal malformation. Results: The search robotic and anorectal malformation gave ten articles. Two were excluded as they were not relevant. Two articles were added from cross-reference. Ten publications on robotic-assisted procedures for anorectal malformation were studied, describing procedures in thirty-three cases. The youngest child operated was 3 months old. All except one case were done in males. Most articles were from the US and the Kingdom of Saudi Arabia (KSA). The principles involved in robotic-assisted anorectoplasty (RAARP) were the same as that of laparoscopic procedures. Complications reported included pelvic abscess, epididymo-orchitis, and stricture of pelvic tunnel or conversion to open. The magnification and endo-wrist technology of robotics facilitated the sharp dissection and ligation at origin of fistula. The mean operating time was 228.7 min (docking and console time), shortest being 86 min and mean hospital stay was 7 days. The number of ports used varied from 3 to 4 with 8.5 mm being the most commonly used umbilical port and 8 mm as working ports, although in one article, a 12 mm port was used for telescope. The prolonged operating time and cost are the two factors to be addressed in RAARP. Conclusion: Robotic surgery is feasible in infants with ARM and safe in expert hands. Robotics is a very effective tool with its better ergonomics, tremor filtration, 3D magnification, and dexterity. Increasing awareness and referral to high-volume centers can tide over the cost factor, and good training of the surgeons can reduce the operative time. [ABSTRACT FROM AUTHOR]

Purpose: To study the published literature for various models used for simulation and training in the field of pediatric colorectal surgery. Method: A PubMed search was conducted for studies of simulation models in anorectal malformation on 24 March 2024 with the search words 'simulation pediatric colorectal surgery' followed by another search on 'simulation AND anorectal malformation' that gave 22 and 14 results, respectively (total 36). After removing 4 duplicate publications, 12 were found relevant to simulation and training in colorectal diseases. One publication relevant to the topic was added from literature, thirteen articles were studied. Results: Of these, 5; 1; 4; and 3 were on inanimate models; animate model; 3D reconstructions; and training, respectively. Simulation models are available for posterior sagittal anorectoplasty. The same inanimate model was used in five articles. The animate model was based on a chicken cadaver. 3D models have been made for personalized preoperative assessment and to understand the imaging in anorectal malformation. One 3D model was made by regeneration of organoid epithelium. Training modules were made to evaluate surgical dissection, standardize surgical techniques, and improve proficiency. Conclusion: Simulation models are an important tool for teaching the steps of surgery and discussing the nuances of operative complications among mentors and peers. With advances in this field, the development of high-fidelity models, more training modules, and consensus on surgical techniques will benefit surgical training. [ABSTRACT FROM AUTHOR]

Introduction: Women born with anorectal malformation (ARM) or Hirschsprung disease (HD) may have impaired urologic function resulting in sequelae in adulthood. This study assessed and compared self-reported urinary outcomes in adult females born with ARM or HD to a reference population. Methods: This was an IRB approved, cross-sectional study of female-born patients with ARM or HD, who completed surveys between November 2021 and August 2022. Female patients between the ages of 18 and 80 years were included. Lower Urinary Tract Symptom Questionnaires were administered through REDCap and the responses were compared to a reference population using Chi-squared or Fisher's exact tests. Results: Sixty-six born female patients answered the questionnaires, two of them identified as non-binary. The response rate was 76%. Median age was 31.6 years. The majority were born with cloaca (56.3%), followed by other type of ARMs (28.1%), complex malformation (9.4%), and HD (6.3%). A history of bladder reconstruction was present for 26.6%. Catheterization through a channel or native urethra was present in 18.8%. Two had ureterostomies and were excluded from the analysis. Seven had chronic kidney disease or end-stage renal disease, three with a history of kidney transplantation. Patients with cloaca had significantly higher rates of urinary incontinence, urinary tract infection, and social problems due to impaired urological functioning, when compared to an age-matched reference population (Table 3). Conclusion: This study emphasizes the need for a multi-disciplinary team that includes urology and nephrology following patients with ARM long term, especially within the subgroup of cloaca. Level of Evidence: III. [ABSTRACT FROM AUTHOR]

Context: Cloacal malformations are rare and are typically reported in females. There are a few scattered reports in males. It is not clear why they are so rare in males since both sexes negotiate this stage of embryonal development. Aims: The present study aims to share our experience and review all the cases of persistent cloaca and cloacal variants in males reported in the literature. Materials and Methods: The male cloaca is defined as a single common channel of varying lengths with separate inlets for the urinary tract (urethra) anteriorly and the rectum posteriorly at its cranial end and with a solitary perineal orifice/opening for external drainage. We also carried out an electronic literature search for cloaca, persistent cloaca, common cloaca, cloacal dysgenesis, cloacal malformation, cloacal membrane agenesis, urorectal malformation sequence, rectourinary perineal fistula, sirenomelia, and caudal regression syndrome. Results: After eliminating other cloacal anomalies and persistent cloaca in females, we found a total of 22 males with persistent cloaca or cloacal variant reported in the literature. In addition, we are adding two cases we have managed since our previous report. Conclusions: An effort should be made to search for the presence of the common channel in male patients with a single perineal opening. Recognition of the anomaly, width of the common cloacal channel, location of the rectal pouch with relation to the sacrum or pubis, status of the spine and sacrum, and nature of the anal sphincter are vital pieces of information to successfully manage the anomaly. It would be worthwhile if future reports on the subject also include long-term information about urinary and fecal functions and continence. [ABSTRACT FROM AUTHOR]

Introduction: Reconstruction of a cloacal defect in a girl is often difficult and complicated.[1] This is most often done either by the sacro-perineal route or through the posterior sagittal route.[2] The procedures may involve total mobilization of the cloaca with or without the creation of a lower vagina with the help of a loop of vascularized bowel.[3] In our approach, such defects can be corrected using the lower anorectum for the creation of a lower vagina and abdominoperineal pull-through of the proximal divided bowel. This method can be used both in short and long common channel cloaca. Materials and Methods: We have used this procedure in one patient of posterior cloaca and four patients of anterior cloaca. These operations were done in patients of 1 year and 6 months to 4 years. Only one patient is waiting for the closure of the colostomy. Results: In all the cases, the urethra, the vagina, and the anus were successfully separated. Conclusion: This operation restores normal pelvic anatomy and physiology with minimal mutilation of the pelvic floor. [ABSTRACT FROM AUTHOR]

There is wide variation in the language used to describe Mullerian structures. To standardize terminology, the American Society of Reproductive Medicine (ASRM) created the Mullerian Anomalies Classification (MAC) in 2021. The objective of this study was to evaluate the applicability of the MAC nomenclature to pediatric patients with cloaca. A retrospective review of all patients with cloaca was performed at a single institution. Descriptions of Mullerian structures were evaluated and compared to the ASRM MAC categories. Descriptive statistics were used to report findings. 36 patients with cloaca were identified, 13 (36%) of whom had congenital Mullerian structures that could not be adequately described by the MAC terminology. All 13 patients had two hemiuteri that were not connected in the midline and were not accurately described as uterus didelphys. Additionally, 5 of these 13 patients had reproductive anatomy that was connected by a fistula or ectopic connection to other pelvic structures. Despite the ASRM expansion of the Mullerian anomalies nomenclature, more than a third of our patients with cloaca could not have their Mullerian structures accurately described. Describing anatomy with accurate and consistent language can improve communication between healthcare providers and may allow patients and families to better anticipate fertility options. Retrospective. IV. [ABSTRACT FROM AUTHOR]

Recent advancements in pediatric surgery have embraced telehealth (TH) modalities, transitioning from traditional in-person consultations to virtual care. This shift has broadened access to healthcare, potentially enhancing affordability, patient and caregiver satisfaction, and clinical outcomes. In pediatric colorectal surgery, telehealth has been effectively utilized to support Bowel Management Programs (BMPs) for children suffering from constipation and fecal incontinence. A systematic review was conducted to assess the effectiveness of virtual BMPs, analyzing studies from January 2010 to December 2023, sourced from MEDLINE (via PubMed), Embase, and the Cochrane Library, with five studies included. Remote BMPs, implemented through video or telephone consultations, reported satisfaction rates exceeding 75% among families, indicating a strong preference for virtual interactions over traditional visits. Significant findings from the studies include improvements in Vancouver and Baylor scores, reductions in the duration of multidisciplinary consultations, enhancements in pediatric quality of life and Cleveland scores, and decreased frequency of laxative treatments. The implementation of TH has facilitated patient-led care, enabling timely adjustments in treatment and efficient distribution of medical supplies. The findings suggest that virtual BMPs are a viable and effective alternative to conventional approaches, yielding high caregiver satisfaction and superior clinical outcomes while promoting patient independence. [ABSTRACT FROM AUTHOR]

Background: Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by imperforate anus, dysplastic ears, thumb malformations, and other abnormalities. Previous studies have revealed that mutations in the SALL1 gene can disrupt normal development, resulting in the characteristic features of Townes-Brocks syndrome. Spalt-like transcription factors (SALLs) are highly conserved proteins that play important roles in various cellular processes, including embryonic development, cell differentiation, and cell survival. Over 400 different variants or mutations have been reported in the SALL1 gene in individuals with TBS. Most of these variants lead to the formation of premature termination codons (PTCs), also known as nonsense mutations. The majority of these PTCs occur in a specific region of the SALL1 gene called the "hotspot region", which is particularly susceptible to mutation. Methods: In this study, we conducted whole-exome sequencing on a three-generation Chinese family with anorectal malformations. Results: We identified a novel heterozygous mutation (chr16:51175376:c.757 C > T p.Gln253*) in the SALL1 gene. Molecular analysis revealed a heterozygous C to T transition at nucleotide position 757 in exon 2 of the SALL1 (NM_002968) gene. This mutation is predicted to result in the substitution of the Gln253 codon with a premature stop codon (p.Gln253*). The glutamine-rich domain forms a long alpha helix, enabling the mutant protein to interact with the wild-type SALL1 protein. This interaction may result in steric hindrance effects on the wild-type SALL1 protein. Conclusions: Our findings have expanded the mutation database of the SALL1 gene, which is significant for genetic counseling and clinical surveillance in the affected family. Furthermore, our study enhances the understanding of Townes-Brocks syndrome and has the potential to improve its diagnosis and treatment. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Despite surgical advances for complex congenital colorectal conditions, such as anorectal malformation (ARM) and Hirschsprung disease (HD), many adolescents require transfer from specialist pediatric to adult providers for ongoing care. A systematic review of PubMed, MEDLINE and Embase was conducted to identify what is known about the transitional care of patients with ARM and HD (PROSPERO # CRD42022281558). The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) framework guided our reporting of studies that focused on the transition care of 10–30-year-olds with ARM and HD. Eight studies were identified that included patient and parent (n = 188), and/or clinician perspectives (n = 334). Patients and clinicians agreed that transitional care should commence early in adolescence to support transfer to adult care when a suitable level of maturation is reached. There was little evidence from patients that transfer happened in a timely or coordinated manner. Patients felt that clinicians did not always understand the significance of transfer to adult services. No models of transition care were identified. Surgeons ranked ARM and HD as the most common conditions to experience delayed transfer to adult care. Beyond pediatric surgeons, patients also highlighted the importance of general practitioners, transitional care coordinators and peer support groups for successful transition. There is little research focused on transitional care for patients with ARM and HD. Given evidence of delayed transfer and poor experiences, the development of models of transitional care appears essential. • The nature of health issues faced by adolescents with congenital colorectal conditions, and the health professionals who care for them, is complex, but poorly described in the literature. We did not identify any successful models of transitional care for this surgical cohort. [ABSTRACT FROM AUTHOR]

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. 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. 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). 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 III. • Many patients who undergo anorectal malformation repair still experience functional bowel issues in childhood. • Using MRI guidance in the repair of anorectal malformations, with the goal of limiting muscle injury, shows promise in improving the functional outcomes of this complex patient population. [ABSTRACT FROM AUTHOR]

The literature on transitional care in anorectal malformation (ARM) and Hirschsprung's disease (HD) is diverse and heterogeneous. There is a lack of standards and guidelines specific to transitional care in these conditions. We aim to establish and systematically categorize challenges and solutions related to colorectal transition care. Systematic review of qualitative studies from MEDLINE, EMBASE, PubMed and Scopus databases (2008–2022) was conducted to identify the challenges and solutions of healthcare transition specific to ARM and HD. Thematic analyses are reported with reference to patient, healthcare provider and healthcare system. Sixteen studies from 234 unique articles were included. Fourteen themes related to challenges and solutions, each, are identified. Most challenges identified are patient related. The key challenges pertain to: (1) patient's lack of understanding of their disorder, resulting in over-reliance on the pediatric surgical team and reluctance towards transitioning to adult services; (2) a lack of education and awareness among adult colorectal surgeons in caring for pediatric colorectal conditions and inadequate communication between pediatric and adult teams; and (3) a lack of structured transition program and joint-clinic to meet the needs of the transitioning patients. The key solutions are: (1) fostering young adult patient's autonomy and independence; (2) conducting joint pediatric-adult transition clinics; and (3) ensuring a structured and coordinated transition program is available using a standardized guideline. A comprehensive framework related to barriers and solutions for pediatric colorectal transition is established to help benchmark care quality of transitional care services. IV. Systematic review without meta-analysis. • Standards specific to pediatric colorectal transitional care is lacking. • A framework consists of 14 challenges and 14 solutions specific to ARM and HD transition is established. They are systematically categorized into patient, healthcare provider and healthcare system related, to facilitate standards setting and guidelines development for transition programs. [ABSTRACT FROM AUTHOR]

In pediatric colorectal surgery, achieving and visualizing adequate perfusion during complex reconstructive procedures are paramount to ensure postoperative success. However, intraoperative identification of proper perfusion remains a challeng. This review synthesizes findings from the literature spanning from January 2010 to March 2024, sourced from Medline/PubMed, EMBASE, and other databases, to evaluate the role of indocyanine green (ICG) fluorescence imaging in enhancing surgical outcomes. Specifically, it explores the use of ICG in surgeries related to Hirschsprung disease, anorectal malformations, cloacal reconstructions, vaginal agenesis, bladder augmentation, and the construction of antegrade continence channels. Preliminary evidence suggests that ICG fluorescence significantly aids in intraoperative decision-making by improving the visualization of vascular networks and assessing tissue perfusion. Despite the limited number of studies, initial findings indicate that ICG may offer advantages over traditional clinical assessments for intestinal perfusion. Its application has demonstrated a promising safety profile in pediatric patients, underscoring the need for larger, prospective studies to validate these observations, quantify benefits, and further assess its impact on clinical outcomes. The potential of ICG to enhance pediatric colorectal surgery by providing real-time, accurate perfusion data could significantly improve surgical precision and patient recovery. [ABSTRACT FROM AUTHOR]

Background: Pediatric colorectal specialists care for patients with a variety of defecation disorders. Anorectal (AR) manometry testing is a valuable tool in the diagnosis and management of these children. This paper provides a summary of AR manometry techniques and applications as well as a review of AR manometry findings in pediatric patients with severe defecation disorders referred to a pediatric colorectal center. This is the first study describing multi-year experience using a portable AR manometry device in pediatric patients. Methods: An electronic medical record review was performed (1/2018 to 12/2023) of pediatric patients with defecation disorders who had AR manometry testing. Demographics, diagnostic findings, and outcomes are described. Key Results: A total of 297 unique patients (56.9% male, n = 169) had AR manometry testing. Of these, 72% (n = 188) had dyssynergic defecation patterns, of which 67.6% (n = 127) had fecal soiling prior to treatment. Pelvic rehabilitation (PR) was administered to 35.4% (n = 105) of all patients. A total of 79.5% (n = 58) of the 73 patients that had fecal soiling at initial presentation and completed PR with physical therapy and a bowel management program were continent after therapy. AR manometry was well tolerated, with no major complications. Conclusions: AR manometry is a simple test that can help guide the management of pediatric colorectal surgical patients with defecation disorders. As a secondary finding, PR is a useful treatment for patients with dyssynergic stooling. [ABSTRACT FROM AUTHOR]

Introduction: Cloacal exstrophy is a rare birth defect that affects both the genitourinary and gastrointestinal tract, with an estimated incidence between 1:200,000 and 1:400,000 live births. The exact mechanism that leads to this defect is still unknown. Our purpose is to report a case of omphalocele-exstrophy-imperforate anus-spinal defect (OEIS) complex with a rare variant to add to the literature. Case presentation: A 28-year-old female with no known medical history had a monochorionic diamniotic twin pregnancy. At 20 weeks of gestation a prenatal ultrasound demonstrated multiple fetal anomalies on twin B, including omphalocele, absent right kidney, non-visualization of bladder, and single umbilical artery. She had a scheduled Cesarean section at 34 weeks and 5 days of gestation. Twin B had a large omphalocele with an intact sac. Below the omphalocele, there was a cecal plate with a prolapsed ileum and a second small orifice corresponding to the hindgut. Two hemivaginas and hemiclitorises were appreciated inferior to the cecal plate but superior to a bladder plate bridge joining both halves. Each of the hemivaginas was connected to a hemiuterus with its own fallopian tube and ovary. The bladder was on both sides of the cecal plate and connected in the midline adopting a crescent shape with the concave side facing cephalad. Genetic testing confirmed an XX karyotype. On day-of-life 5 the patient underwent omphalocele repair and closure of the abdominal wall, tubularization of the cecal plate, and an end colostomy. Additionally, the hemivaginas and hemiclitorises were relocated to an orthotopic position and the bladder plates were joined together and used to cover part of the abdominal wall defect. She was discharged on day of life 42 with a weight of 2.72 kg. She continues to follow up outpatient. Her second stage procedure is still pending. Conclusion: The position of the genital tract superior to the bladder exstrophy observed in this case has not been described before and is not fully explained by the current theories on the development of OEIS.

Abstract Background Anorectal malformations (ARMs) are the most common congenital anomaly of the digestive tract. And colostomy should be performed as the first-stage procedure in neonates diagnosed with intermediate- or high-type ARMs. However, the most classic Pe˜na’s colostomy still has some disadvantages such as complicated operation procedure, susceptibility to infection, a greater possibility of postoperative incision dehiscence, difficulty of nursing and large surgical trauma and incision scarring when closing the stoma. We aimed to explore the effectiveness of middle descending colon-double lumen ostomy (MDCDLO) in the treatment of high and intermediate types of anorectal malformations. Methods We retrospectively reviewed the data of patients who underwent MDCDLO for high or intermediate types of ARMs between June 2016 and December 2021 in our hospital. The basic characteristics were recorded. All patients were followed up monthly to determine if any complication happen. Results There were 17 boys and 6 girls diagnosed with high or intermediate types of ARMs in our hospital between June 2016 and December 2021. All 23 patients were cured without complications such as abdominal incision infection, stoma stenosis, incisional hernia, and urinary tract infection in the postoperative follow-up time of 6 months to 6 years except one case of proximal intestinal prolapse was restored under anesthesia. Conclusion MDCDLO offers the advantages of simplicity, efficiency, safety, mild trauma, and small scarring in the treatment of high and intermediate types of anorectal malformations.

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. [ABSTRACT FROM AUTHOR]

Anorectal malformation (ARM) is a prevalent early pregnancy digestive tract anomaly. The intricate anatomy of the embryonic cloaca region makes it challenging for traditional high-throughput sequencing methods to capture location-specific information. Spatial transcriptomics was used to sequence libraries of frozen sections from embryonic rats at gestational days (GD) 14 to 16, covering both normal and ARM cases. Bioinformatics analyses and predictions were performed using methods such as WGCNA, GSEA, and PROGENy. Immunofluorescence staining was used to verify gene expression levels. Gene expression data was obtained with anatomical annotations of clusters, focusing on the cloaca region's location-specific traits. WGCNA revealed gene modules linked to normal and ARM cloacal anatomy development, with cooperation between modules on GD14 and GD15. Differential gene expression profiles and functional enrichment were presented. Notably, protein levels of Pcsk9, Hmgb2, and Sod1 were found to be downregulated in the GD15 ARM hindgut. The PROGENy algorithm predicted the activity and interplay of common signaling pathways in embryonic sections, highlighting their synergistic and complementary effects. A competing endogenous RNA (ceRNA) regulatory network was constructed from whole transcriptome data. Spatial transcriptomics provided location-specific cloaca region gene expression. Diverse bioinformatics analyses deepened our understanding of ARM's molecular interactions, guiding future research and providing insights into gene regulation in ARM development. [ABSTRACT FROM AUTHOR]

Background: Postoperative anal dilations (PAD) are the standard of care for patients after a posterior sagittal anorectoplasty (PSARP) for anorectal malformation (ARM) or a transanal pull-through (TP) procedure for Hirschsprung disease (HD). This study assessed the psychosocial impact of PAD among caregivers of children with ARM or HD, which may inform postoperative care strategies. Methods: Caregivers of patients with ARM and HD who underwent PSARP or TP within five years participated in the online survey. Questions included demographics, patient and caregiver experiences with PAD, and baseline psychosocial functioning. Quantitative results were reported descriptively, while qualitative responses were summarized as major themes. Results: The survey indicated a response rate of 26% caregivers, with most being female (91%) and biological mothers (85%). Patients were mostly male (65%), born with ARM (74%), and were five months old on average when PAD began. Caregivers reported that during PAD, children experienced distress (56%), pain (44%), and fear (41%), while a third noted no negative reactions. Over time, their child's ability to cope with PAD got easier (38%) or stayed the same (41%). Caregivers reported worry/anxiety (88%), guilt (71%), stress (62%), and frustration (35%), noting that additional coping strategies to manage the emotional and logistical challenges of daily PAD would be helpful. Conclusion: Although PAD is necessary, it can be highly stressful for the patients and their caregivers. Key findings emphasized the need for additional coping strategies and highlighted the importance of integrating psychosocial support into the postoperative care regimen. [ABSTRACT FROM AUTHOR]

Studies examining functional outcomes and health-related quality of life for patients with congenital surgical anomalies (CSA) are increasingly common. However, the prevalence of mental health disorders in this population has not been determined. The purpose of this review is to summarize the reported prevalence of mental health disorders in children born with gastrointestinal CSA. A systematic review of the literature was conducted on Medline (OVID), EMBASE (OVID), CINAHL (EbscoHost), and Scopus to identify studies reporting mental health diagnoses in children with a gastrointestinal CSA. A meta-analysis of the prevalence of anxiety disorders and depressive disorders was completed. Of 2546 manuscripts, seven met the inclusion criteria. All included manuscripts looked at patients with anorectal malformation (ARM) and/or Hirschsprung disease (HD). No studies assessed other gastrointestinal CSAs. A total of 183 psychiatric diagnoses were reported in 1167 patients. A pooled analysis of ARM patients revealed a 14.0% prevalence of anxiety disorders (N = 208; CI 95 = 4.4–23.4%) and an 18.75% prevalence of depressive disorders (N = 48; CI 95 = 7.7–29.8%). A pooled analysis of HD patients revealed a 15.8% prevalence of anxiety disorders (N = 19; CI 95 = 0.6–32.2%) and a 4.75% prevalence of depressive disorders (N = 758; CI 95 = 3.23–6.26%). There is a paucity of evidence on mental health outcomes of individuals born with gastrointestinal CSA. However, the available evidence suggested a high prevalence of mental health diagnoses in individuals born with ARM or HD with 1 in 7 having an anxiety disorder. Additionally, 1 in 5 ARM patients and 1 in 20 HD patients were diagnosed with a depressive disorder. Systematic review and meta-analysis. IV. • What is currently known about this topic? Limited studies on mental health disorders in children with congenital surgical anomalies have indicated a potential increased prevalence of these disorders. • What new information is contained in this article? Mental health disorders, anxiety, and depression occur more commonly in children born with anorectal malformations and Hirschsprung disease than the general population. [ABSTRACT FROM AUTHOR]

Anorectal malformations (ARM) are rare and heterogenous which creates a challenge in conducting research and offering recommendations for best practice. The Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) was formed in 2016 to address this challenge and created a shared national data registry to collect information about pediatric colorectal patients. There has been no external validation of the data collected. We sought to evaluate the database by performing a patient matched analysis comparing 30-day outcomes identified in the PCPLC registry with the NSQIP-P database for patients undergoing surgical repair of ARM. Patients captured in the PCPLC database from 2016 to 2021 at institutions also participating in NSQIP-P who underwent ARM repair younger than 12 months old were reviewed for 30-day complications. These patients were matched to their NSQIP-P record using their hospital identification number, and records were compared for concordance in identified complications. A total of 591 patient records met inclusion criteria in the PCPLC database. Of these, 180 patients were also reviewed by NSQIP-P. One hundred and fifty-six patient records had no complications recorded. Twenty-four patient records had a complication listed in one or both databases. There was a 91 % concordance rate between databases. When excluding complications not tracked in the PCPLC registry, this agreement improved to 93 %. Including all patients evaluated for this subpopulation, a 91 % concordance rate was observed when comparing PCPLC collected complications to NSQIP-P. Future efforts can focus on further validating the data within the PCPLC for other patient populations. V. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

To compare the anatomic variation between patients with a diagnosis of an obstructed hemivagina with an anorectal malformation (ARM) and those without an ARM. This was a retrospective chart review conducted at a single tertiary children's hospital. Patients with an obstructed hemivagina seen from 2004 to 2019 were included. We identified a total of 9 patients diagnosed with an obstructed hemivagina: 4 patients with a history of ARM and 5 patients without an ARM. Patients presented with obstructive symptoms between the ages of 11 and 20. Two-thirds of patients had a left-sided obstruction. All patients without an ARM had ipsilateral congenital anomalies of the kidney and urinary tract. Half the patients with a history of ARM had an ipsilateral renal anomaly, and the other half had a contralateral renal anomaly. Obstructed hemivagina occurs in patients with a history of ARM. However, unlike patients with isolated obstructed hemivagina and ipsilateral renal anomaly (OHVIRA), patients with an ARM and an obstructed hemivagina can present with associated renal anomalies on either the ipsilateral or contralateral side. In our small case series, patients with a history of ARM had high septa and required more complex surgical management due to the inability to access the septum vaginally. Knowledge of renal anatomy and ureteral path is important because a hysterectomy may be needed to relieve the obstruction in patients with ARMs. A larger case series is needed to better characterize the spectrum of complex anomalies in patients with ARMs. [ABSTRACT FROM AUTHOR]

Aims: Assess long-term quality of life (QoL), bowel and voiding function in anorectal malformation (ARM) paediatric patients. Method: Retrospective review of ARM patients between 2007 and 2020 was performed. QoL (all patients), bowel and voiding function (> 5 yo) were assessed using the paediatric quality of life inventory (PedsQL), paediatric incontinence and constipation score (PICS) and dysfunctional voiding scoring system (DVSS), respectively. Results: There were 122 patients (49% female, 85 > 5 yo) with ARM. Two had died, four refused, twenty-two were non-contactable, leaving ninety-four patients (65 > 5 yo) included. Mean age was 89 months (19–183), and follow-up was 86 months (13–183). Patients had significantly poorer scores for QoL, bowel and voiding function compared to published healthy controls. 57% had poor bowel function, 32% had poor voiding function and 38% required 'ancillary aids' to facilitate function. Patients using 'ancillary aids' for voiding function had a significantly lower QoL (parent: 62 vs 77; p = 0.01, patient: 66 vs 79; p = 0.05). Bowel continence was worse in those with high vs low ARM (13 vs 20, p = 0.004) and timely vs delayed diagnosis (17 vs 24, p = 0.04). Conclusion: Patients with ARM have significantly worse QoL, bowel and voiding function than normal healthy controls. There is a need for long-term monitoring of function and further support for these children. Level of evidence: III. [ABSTRACT FROM AUTHOR]

Assessment of postoperative bowel function in anorectal malformation (ARM) patients is crucial for benchmarking outcomes. We compared existing bowel function scoring systems in various aspects in patients with ARM. With ethical approval, this was a cross-sectional study involving 5 paediatric surgery referral centres in Malaysia, comparing the Kelly, Japanese Study Group of Anorectal Anomalies (JSGA), Holschneider and Krickenbeck bowel function questionnaires. We recruited patients aged 4–17 years, who had completed definitive surgery & stoma closure (where relevant) > 12 months prior to participation. We standardised outcomes of each scoring system into categories ('good', 'fair', 'poor' and 'very poor') to facilitate comparison. Parents & patients were surveyed and asked to rate the ease of understanding of each questionnaire. The difference in protocol scores rated between parents and patients were compared. Association of each bowel function scoring protocol with type of anomaly was assessed. Statistical significance was p < 0.05. Thirty-nine parents (21 mothers, 18 fathers) and 23 patients were included in this study. Fair agreement was found between Kelly and Krickenbeck protocols (κ = 0.343; p < 0.001), between JSGA constipation and Holschneider protocols (κ = 0.276; p = 0.002); JSGA constipation and Krickenbeck protocols (κ = 0.256; p = 0.004); and between Holschneider and Krickenbeck protocols (κ = 0.273; p = 0.003). Only the Kelly protocol showed significant correlation between parents and patients' answers (ρ = 0.459, p = 0.028). Krickenbeck demonstrated the best negative correlation of patients' scores with ARM types (ρ = −0.401, p = 0.001). The Kelly protocol ranked highest when comparing ease of understanding. All the questionnaires appeared comparable in assessing postoperative faecal continence in ARM patients. The Kelly questionnaire performed best in 3 key areas of assessment. Level III Cross-Sectional Study. What is currently known about this topic? While there are many scoring systems to assess bowel function, there is not much information in regard to differences in applicability of the systems, whether they are easy to understand, are reflective of the types of ARM, and can be adapted to the local setting. What new information is contained in this article? The Kelly questionnaire performed best overall in 3 key areas of assessment: parent-patient inter-rater correlation, association between type of anomaly and bowel function, and ease of use. [ABSTRACT FROM AUTHOR]

Anorectal malformations (ARM) are rare congenital anomalies characterized by a spectrum of defects resulting in the absence of a normal anal opening with or without fistula. Urogenital involvement is common, and the fistulous tract may terminate in the genitourinary system in males or within gynecological structures in females. Surgical reconstruction occurs early in life and survival of these patients to adulthood is the norm. There has, therefore, been increased focus on their long-term outcomes to better anticipate and treat the sequelae that may impact their health and well-being as this population ages. For urologists, urinary health, sexual function, and fertility outcomes are of particular interest among this population. This article aims to provide a review of urological, sexual, and fertility outcomes for individuals born with ARM with a focus on key issues that may occur later in life to ensure adequate counseling, screening, and treatment. [ABSTRACT FROM AUTHOR]

Background: Anorectal malformations (ARMs) are the most common congenital anomaly of the digestive tract. And colostomy should be performed as the first-stage procedure in neonates diagnosed with intermediate- or high-type ARMs. However, the most classic Pe˜na's colostomy still has some disadvantages such as complicated operation procedure, susceptibility to infection, a greater possibility of postoperative incision dehiscence, difficulty of nursing and large surgical trauma and incision scarring when closing the stoma. We aimed to explore the effectiveness of middle descending colon-double lumen ostomy (MDCDLO) in the treatment of high and intermediate types of anorectal malformations. Methods: We retrospectively reviewed the data of patients who underwent MDCDLO for high or intermediate types of ARMs between June 2016 and December 2021 in our hospital. The basic characteristics were recorded. All patients were followed up monthly to determine if any complication happen. Results: There were 17 boys and 6 girls diagnosed with high or intermediate types of ARMs in our hospital between June 2016 and December 2021. All 23 patients were cured without complications such as abdominal incision infection, stoma stenosis, incisional hernia, and urinary tract infection in the postoperative follow-up time of 6 months to 6 years except one case of proximal intestinal prolapse was restored under anesthesia. Conclusion: MDCDLO offers the advantages of simplicity, efficiency, safety, mild trauma, and small scarring in the treatment of high and intermediate types of anorectal malformations. [ABSTRACT FROM AUTHOR]