Background: Anorectal malformations (ARMs) are often associated with tethered cord syndrome (TCS). This study focused on children with ARM to explore the risk factors for the co-occurrence of TCS and to investigate the impact of untethering surgery on anorectal function among these children. Methods: A retrospective analysis was conducted on 130 children with ARM treated at Fujian Provincial Children's Hospital (Fujian Hospital of Shanghai Children's Medical Center) from May 2021 to January 2024. A total of 114 children were included in the study on the basis of the inclusion and exclusion criteria. The patients were divided into two groups according to the presence of TCS: the ARM group (n=83) and the ARM+TCS group (n=31). to explore the risk factors for the co-occurrence of ARM and TCS. All children diagnosed with TCS underwent untethering surgery regardless of symptoms. Anorectal function was compared between the ARM and ARM+TCS groups. Results: In the multivariate analysis, intermediate or high-type ARM increased the risk of children with ARM having TCS, with an OR of 3.571, 95% CI from 0.106 to 0.738, and p= 0.010. Additionally, the presence of other malformations also increased the risk of children with ARM having TCS (p=0.026). When the ARM+TCS group was compared with the ARM group, children with low-type ARM in the ARM+TCS group exhibited a significant improvement in constipation following untethering surgery (p=0.043). However, when children with intermediate or high-type ARM were compared, the anorectal function of the children in both groups was comparable. Conclusions: Intermediate or high-type ARM and the presence of other malformations are risk factors for the co-occurrence of TCS in children with ARM. In children with low-type ARM, those with TCS and ARM showed significant improvement in constipation after untethering surgery compared with those with ARM without TCS. We recommend that children with relevant conditions actively undergo untethering surgery.

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). The co-occurrence of ARMs and CSS in an individual is unexpected since both diseases are very rare. A review of the literature enabled us to identify 12 individuals with both CSS and ARMs. Among these 12 individuals, 9 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 likely a rare consequence of CSS, especially for ARID1A-related CSS.

Background: Children with anorectal malformation (ARM) require long-term follow-up, especially for fecal continence and main predictors of longer-term success are the type of ARM, associated anomalies and sacral integrity. Three-Dimensional High Resolution Anorectal Manometry (3D-HRAM) provides an image of the pressure profile of anal sphincter complex. Aim of study was to evaluate the anal sphincter function in ARM patients with 3D HRAM correlating this analysis to clinical outcome and to associated malformations. Methods: Forty ARM patients, were submitted to 3D HRAM: manometric, anatomical and clinical score were correlated to response to bowel management (BM). Results: A positive correlation between all scores and type of ARM was found: in high ARM and in patients with spinal anomalies (regardless to ARM type) lower scores were reported and even after BM they do not achieve good continence. Conclusions: 3D-HRAM provides information on the functional anatomy of the sphincter complex. Our study shows good correlation between the manometric results and clinical outcome, confirming spinal malformations and ARM type as most important prognostic risk factors for poor outcome. Specific sphincteric defects can be explored with manometry, allowing for tailored bowel management strategies.

Background: Bacteria can survive antibiotic exposure by mechanisms like tolerance without a shift in antimicrobial susceptibility. In this study, we investigated the presence of tolerance to three antimicrobials, ceftriaxone (CRO), azithromycin (AZM), and ciprofloxacin (CIP), in clinical isolates and WHO reference panel of N. gonorrhoeae and explored the prevalence between urogenital and anorectal infection sites. Methods: We examined 66 N. gonorrhoeae clinical isolates, evenly divided between anorectal and urogenital infection sites, using a modified tolerance disk (TD test) for three antibiotics. The isolates underwent a three-step incubation process wherein the isolates were exposed to an antibiotic disc for 20 hours of incubation (Step I), followed by the replacement of the antibiotic disc with a nutrient disc for overnight incubation (Step II) and additional overnight incubation with extra nutrients (Step III). Results: Four isolates were lost due to contamination. Of 62 clinical isolates, 7 exhibited tolerance to AZM, with 6 from anorectal and 1 from urogenital sites (p = 0.0496). Tolerance to CRO was observed in 11 isolates, which was significantly associated with the infection site, with 9 from the anorectum, and 2 from the urogenital site being tolerant (p = 0.02). Tolerance to CIP was found in 11 isolates, but was not significantly associated with the infection site. Tolerance was also detected in 8 (K, M, N, O, P, U, V, W) out of the 14 WHO (World Health Organization) reference strains, with varying patterns of tolerance to CRO (n=8), CIP (n=2) and AZM (n=1). Conclusion: This study identified CRO, AZM, and CIP tolerance in clinical Neisseria gonorrhoeae isolates. Significant variations in tolerance proportions between anorectal and urogenital infection sites, particularly for CRO, were observed. Additionally, tolerance was detected in WHO reference strains.