Management of urinary incontinence in girls with congenital pouch colon.

PURPOSE: This study describes the management of urinary incontinence (UI) in eight girls with congenital pouch colon (CPC) associated with anorectal malformation (ARM). METHODS: From 2013 to 2015, six girls with CPC and UI underwent bladder neck reconstruction (BNR). Four girls had complete UI (CUI) and two girls partial UI (PUI). From 2019 to 2023, four girls, including two with failed BNR, underwent bladder neck closure (BNC) and augmentation cystoplasty (AC) with a continent stoma. Subtypes of CPC were Complete CPC (n = 7) and Incomplete CPC (n = 1). All girls had a double vagina; short, wide urethra; and reduced bladder capacity with an open, incompetent bladder neck (BNI). During BNR, a neourethra was constructed from a 1.5-2 cm-wide and 1.5-3-cm-long trigonal strip. During BNC, AC was performed using a 20 cm ileal segment (n = 3) and by a colonic pouch segment, preserved during earlier colorraphy (n = 1). Continent stoma included a Monti's channel (n = 3) and appendicovesicostomy (n = 1). RESULTS: BNR produced moderate improvement of UI (n = 2), while UI was still very severe (n = 4). During BNC, intraoperative complications included iatrogenic vaginal tears (n = 4). Early complications included partial dehiscence of the ileocystoplasty (n = 1), partial adhesive small bowel obstruction (n = 1), and difficulty in stomal catheterization with prolonged drainage from the pelvic drain (n = 1). Late complications included unilateral grade II vesicoureteric reflux (n = 2) and vesicovaginal fistula (VVF) (n = 2) needing trans-vaginal closure in one girl. Urinary stones (n = 2) with stomal leakage of urine in one girl needed open cystolithotomy twice (n = 1), and endoscopic lithotripsy (n = 1). At follow-up, all patients have high overall satisfaction with the procedure and their continence status. CONCLUSIONS: BNC with AC and a catheterizable stoma satisfactorily achieves continence in girls with CPC and UI, vastly improving quality of life. If lower urinary tract (LUT) anatomy is favorable, BNR with/without AC can be the initial surgical procedure. BNC should be the primary procedure in girls with unfavorable LUT anatomy and for failed BNR. LEVEL OF EVIDENCE: IV.

Late diagnosis of anorectal malformation: how good is good enough?

PURPOSE: National data from the United Kingdom reported in 2016 have suggested that almost one quarter of babies with anorectal malformation (ARM) have a delay in diagnosis. The UK's Newborn Infant Physical Examination dictates a perineal examination should be performed within 72 h of birth. We sought to describe a tertiary single-centre experience of late presentation in the most recent 5 years. METHODS: A single-centre prospective registry of ARM patients (July 2018-March 2024) was analysed. Timing of presentation with anomaly was noted. Patients presenting > 72 h or having been discharged home were defined as a delayed diagnosis. Factors associated with delayed diagnosis were noted. RESULTS: Sixty patients were included, of whom nine (15%) were diagnosed after 72 h [range 4-279 days]. This represents a non-significant improvement compared to 39/174 (22%) late diagnosed cases in the BAPS-CASS cohort from 2016 to 17 (p = 0.188). Presenting symptoms of obstruction (i.e. distension, vomiting, megarectum) were more common in late diagnosed patients (4/9 (44%) vs. 1/51(2%); p = 0.001). Anomalies producing meconium on the perineum were more likely to be diagnosed late (8/32 (25%) vs 1/28 (4%); p = 0.029). Complications and changes to clinical management for these cases are presented. CONCLUSION: Although our regional rates of late diagnosis appear to be lower than previously reported national rates, there remains a significant number of infants who are diagnosed late especially those with visible perineal openings. These infants are more commonly symptomatic; entraining additional risks associated with an emergency presentation.

Urological outcomes in adult females born with anorectal malformation or Hirschsprung disease.

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.

A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome.

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.

Management and outcomes of vestibular anorectal malformations in a low-income country hospital.

Introduction: anorectal malformations (ARM) are among the most common congenital anomalies in pediatric surgery. Early detection and management of vestibular fistulas are crucial for optimal outcomes, capitalizing on the pliability of sphincter muscles and the preservation of somatosensory integration. This study aimed to assess the incidence, clinical presentation, and management outcomes of vestibular fistula ARM in a low-income hospital setting. Methods: a retrospective audit was conducted on female pediatric patients aged up to 12 years treated for vestibular fistula ARM from January 1, 2011, to June 30, 2016. Data were collected from medical records, and patients were categorized into one of three surgical management groups. Clinical assessments, preoperative procedures, and surgical interventions were meticulously documented. Results: among 656 neonates, the incidence of vestibular fistula ARM was 8.2%. Patients presented at various ages, with 69.4% being early presenters. Notably, 11.1% of cases presented after 30 weeks of age. Functional fistula, constipation, and bowel obstruction were common presenting symptoms. Associated anomalies were relatively low. The choice of surgical approach varied, with a predominant 3-stage at 68%. Complication development did not significantly differ between surgical groups (p-value 0.083). Immediate postoperative complications were minimal, but complications at definitive anoplasty varied among the surgical groups. Anal strictures and fistula recurrence were noted. At 12 months post-surgery, anal strictures persisted in 9 participants. Conclusion: this study highlights the challenges and outcomes associated with vestibular fistula ARM in a resource-constrained setting. The 3-stage approach, despite its historical preference, demonstrated suboptimal outcomes. A 2-stage procedure appears to offer a balanced alternative, particularly suitable for low-income healthcare systems. Further research and collaborative efforts are essential to refine the management of vestibular fistula ARM and improve patient outcomes.

Bowel function, urinary tract function, and health-related quality of life in males with anorectal malformations.

PURPOSE: There is a knowledge gap regarding long-term outcomes for males undergoing surgery for an anorectal malformation (ARM). The purpose of this study was to investigate bowel function, bladder function, and health-related quality of life (HRQoL) in male patients with an anorectal malformation. METHODS: This cross-sectional questionnaire-based study included males treated for ARM at our institution between 1994 and 2017. Bowel function was assessed with bowel function score (BFS) while urinary tract function was assessed with lower urinary tract symptoms (LUTS) questionnaires. Health-related quality of life (HRQoL) was investigated using age-relevant questionnaires (KIDSCREEN and PGWBI). Patient characteristics were retrospectively collected from the medical records and descriptive statistics were used for analysis. Functional outcomes were compared with gender and age-matched controls while HRQoL was compared to normative data. The study was approved by ethics review authorities. RESULTS: A total of 58 (44.6%) of 130 males responded to the questionnaires. Regarding bowel function, 24 (42.1%) of 57 patients and 81 (95.3%) of 85 controls, respectively, reported a well-preserved bowel function represented by a BFS ≥ 17 (p < 0.001). Soiling issues and 'feels urge' items improved significantly with age. In a linear regression model, BFS increased significantly with age. For most parameters, the proportion of ARM patients with lower urinary tract symptoms was larger, though not significantly, compared to the controls. However, straining and stress incontinence were reported significantly more often by ARM patients. In patients and controls, voiding outcomes in terms of prevalence of having symptoms and the number of cumulative symptoms drop with increasing age. Children and adults reported similar or, in some domains, better HRQoL outcomes when compared to normative European data. CONCLUSION: Bowel function is impaired in male patients with ARM but significantly improves with age. Urinary tract function was affected, but overall comparable to the controls. HRQoL was unaffected. No significant association between the studied outcomes could be shown. LEVEL OF EVIDENCE: III.

The relationship between the caregiver burden and quality of life in parents of Turkish children with anorectal malformation or Hirschsprung's disease.

BACKGROUND: Anorectal malformation (ARM) or Hirschsprung's disease (HD) in children impact on parents' burden of care and quality of life (QoL). The aim of this study was to investigate the relationship between caregiver burden and QoL in parents of children with ARM or HD. DESIGN AND METHODS: This cross-sectional study was conducted with 51 parents who completed the Zarit Burden Inventory (ZBI) and World Health Organization Quality of Life Scale-Short Form Turkish Version (WHOQOL-BREF-TR). RESULTS: The mean (±SD) ZBI score was 33.6 (±12.7), and 47.1% of parents (n = 24) perceived their caregiver burden as mild, 31.4% (n = 16) as moderate, and 3.9% (n = 2) as severe. According to the multivariate linear regression, associated anomalies (ß1 = 5.912), family income (ß1 = -6.007), stoma care (ß1 = 8.287), and diagnosis were identified to be significant determinants of caregiver burden. A negative, moderate, and significant relationship was identified between the ZBI scores and the physical domain (r = -0.417, p < .01), psychological domain (r = -0.421, p < .01), social relations domain (r = -0.398, p < .01), and environmental domain (r = -0.495, p < .01) scores of the WHOQOL-BREF-TR. CONCLUSIONS: The mothers perceived their caregiver burden as mild. However, a significant number of parents suffer from moderate to heavy caregiver burden. An increase in the caregiver burden of parents reduces their quality of life. PRACTICE IMPLICATIONS: Heightened awareness of the potential for caregiver burden and its association with quality of life among parents of children with ARM and HD may contribute to improved.

Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature.

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.

Experiences of youth growing up with anorectal malformation or Hirschsprung's disease: a multicenter qualitative in-depth interview study.

PURPOSE: Patients with anorectal malformation (ARM) and Hirschsprung's disease (HD) live with long-term impact of these diseases even into adulthood. We aimed to explore the physical, social and emotional impact of these diseases in adolescents and young adults to develop best practices for transition care. METHODS: We conducted one-on-one in-depth interviews with ARM and HD patients aged ≥ 11 years who had undergone surgery at four tertiary referral centers. All interviews were audio-recorded and transcribed verbatim. We analyzed transcripts for recurring themes, and data were collected until data saturation was reached. Three researchers independently coded the transcripts for major themes using thematic analysis approach. RESULTS: We interviewed 16 participants (11 males) between October 2022 and April 2023. Ages ranged from 11 to 26 years. Five major themes emerged: (1) personal impact (subthemes: physical, emotional and mental health, social, school), (2) impact on family, (3) perceptions of their future (subthemes: relationships, career, state of health), (4) sources of support (subthemes: family, peers, partner), and (5) transition care (subthemes: concerns, expectations). Only females expressed concerns regarding future fertility. CONCLUSION: This study highlights the evolving problems faced by adolescents and young adults with ARM and HD, especially gender-specific concerns. Our findings can inform efforts to provide individualized care.

Risk factors for delayed extubation after pediatric perineal anaplasty in patients less than 1 year of age: a retrospective study.

BACKGROUND: Anorectal malformation is a common congenital problem occurring in 1 in 5,000 births and has a spectrum of anatomical presentations, requiring individualized surgical treatments for normal growth. Delayed extubation or reintubation may result in a longer intensive care unit (ICU) stay and hospital stay, increased mortality, prolonged duration of mechanical ventilation, increased tracheostomy rate, and higher hospital costs. Extensive studies have focused on the role of risk factors in early extubation during major infant surgery such as Cardiac surgery, neurosurgery, and liver surgery. However, no study has mentioned the influencing factors of delayed extubation in neonates and infants undergoing angioplasty surgery. MATERIALS AND METHODS: We performed a retrospective study of neonates and infants who underwent anorectal malformation surgery between June 2018 and June 2022. The principal goal of this study was to observe the incidence of delayed extubation in pediatric anorectal malformation surgery. The secondary goals were to identify the factors associated with delayed extubation in these infants. RESULTS: We collected data describing 123 patients who had anorectal malformations from 2019 to 2022. It shows that 74(60.2%) in the normal intubation group and 49(39.8%) in the longer extubation. In the final model, anesthesia methods were independently associated with delayed extubation (P < 0.05). CONCLUSION: We found that the anesthesia method was independently associated with early extubation in neonates and infants who accepted pediatric anorectal malformation surgery.

Spatial transcriptomics reveals gene interactions and signaling pathway dynamics in rat embryos with anorectal malformation.

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.

Long-term (> 10 years) bowel function of anorectal malformations: a retrospective single-center study.

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.

Correlation between congenital pelvic floor muscle development assessed by magnetic resonance imaging and postoperative defecation.

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.

Assessment of long-term quality of life, bowel and voiding function outcomes in patients with anorectal malformation at a single UK centre.

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.

Anorectal malformation and Hirschsprung's disease: a cross-sectional multicentre comparison of quality of life and bowel function to a healthy population.

PURPOSE: Children with anorectal malformation (ARM) and Hirschsprung's disease (HD) often experience bowel symptoms into adulthood, despite definitive surgery. This study evaluates the quality of life (QOL) and bowel functional outcome of children treated for ARM and HD in comparison to healthy controls. METHODS: Between December 2020 and February 2023, we recruited patients with ARM and HD aged 3-17 years at four tertiary referral centres, who had primary corrective surgery done >12 months prior. Healthy controls were age-matched and sex-matched. All participants completed the Pediatric Quality of Life Inventory Generic Core Scales 4.0, General Well-Being (GWB) Scale 3.0 and Family Impact (FI) Module 2.0 Questionnaires. Bowel Function Score (BFS) Questionnaires were also administered. We also performed subgroup analysis according to age categories. Appropriate statistical analysis was performed with p<0.05 significance. Ethical approval was obtained. RESULTS: There were 306 participants: 101 ARM, 87 HD, 118 controls. Patients with ARM and HD had significantly worse Core and FI Scores compared with controls overall and in all age categories. In the GWB Scale, only ARM and HD adolescents (13-17 years) had worse scores than controls. ARM and HD had significantly worse BFSs compared with controls overall and in all age categories. There was significant positive correlation between BFS and Core Scores, GWB Scores and FI Scores. CONCLUSION: Patients with ARM and HD had worse QOL than controls. Lower GWB Scores in adolescents suggests targeted interventions are necessary. Bowel function influences QOL, indicating the need for continuous support into adulthood.

Comparison of postoperative urinary complications in laparoscopic-assisted anorectoplasty versus posterior sagittal anorectoplasty for anorectal malformation with rectourethral fistula.

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.

Transition From Pediatric to Adult Healthcare for Colorectal Conditions: A Systematic Review.

BACKGROUND: 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. METHODOLOGY: 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. RESULTS: 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. CONCLUSIONS: 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.

Rack1-mediated ferroptosis affects hindgut development in rats with anorectal malformations: Spatial transcriptome insights.

Anorectal malformation (ARM), a common congenital anomaly of the digestive tract, is a result of insufficient elongation of the urorectal septum. The cytoplasmic protein Receptor of Activated C-Kinase 1 (Rack1) is involved in embryonic neural development; however, its role in embryonic digestive tract development and ARM formation is unexplored. Our study explored the hindgut development and cell death mechanisms in ARM-affected rats using spatial transcriptome analysis. We induced ARM in rats by administering ethylenethiourea via gavage on gestational day (GD) 10. On GDs 14-16, embryos from both normal and ARM groups underwent spatial transcriptome sequencing, which identified key genes and signalling pathways. Rack1 exhibited significant interactions among differentially expressed genes on GDs 15 and 16. Reduced Rack1 expression in the ARM-affected hindgut, verified by Rack1 silencing in intestinal epithelial cells, led to increased P38 phosphorylation and activation of the MAPK signalling pathway. The suppression of this pathway downregulated Nqo1 and Gpx4 expression, resulting in elevated intracellular levels of ferrous ions, reactive oxygen species (ROS) and lipid peroxides. Downregulation of Gpx4 expression in the ARM hindgut, coupled with Rack1 co-localisation and consistent mitochondrial morphology, indicated ferroptosis. In summary, Rack1, acting as a hub gene, modulates ferrous ions, lipid peroxides, and ROS via the P38-MAPK/Nqo1/Gpx4 axis. This modulation induces ferroptosis in intestinal epithelial cells, potentially influencing hindgut development during ARM onset.

Clinical application of middle descending colon-double lumen ostomy with distal stoma narrowing in the treatment of anorectal malformation.

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.