Anorectal malformation

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...

Bladder duplication (BD) is a rare malformation that is often associated to other anomalies. We report a newborn diagnosed with BD in the sagittal plane, associated to persistent urogenital sinus (UGS), given the opening of the vagina immediately below the bladder neck. It is the fourth time this association is reported. Surgical repair was made: both bladders were joined, the common channel was left as urethra and the vagina was descended with a vaginoplasty with an intestinal segment. She also presented an anterior anus, that required posterior mobilization...

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...

INTRODUCTION: To evaluate the possible impact of patients' sacral ratios (SRs) on response to biofeedback (BF) therapy in pediatric patients with lower urinary tract dysfunction (LUTD). MATERIALS AND METHODS: In this retrospective cohort conducted from 2016 to 2018 in our tertiary medical center, we included the medical records of all pediatric patients with LUTD who were nominated for BF due to having abnormal uroflowmetry patterns and simultaneous increase in electromyography (EMG) activity...

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...

BACKGROUND: Children with DS are at higher risk of developing congenital anomalies, particularly cardiac anomalies. METHODS: Medical records of 502 DS patients were reviewed. The logistic regression analyses were performed to determine independent predictors. RESULTS: Of the total 502 study subjects, 53.4% were males. Only 1.4% of the DS case diagnosis were confirmed by karyotyping. All cases were diagnosed postnatally. The median age at DS diagnosis was 5 months...

Diagnostic imaging techniques provide a new aspect of the ante-mortem and post-mortem diagnostics in fish medicine. Ultrasonography, computed tomography (CT) and magnetic resonance imaging (MRI) can provide more information about the internal organs and pathognomic lesions. The authors used diagnostic imaging techniques to evaluate and describe the neoplastic malformation in a 3-year-old female rainbow trout (Oncorhynchus mykiss). The fish was examined with Siemens Somatom Definition AS + CT scanner and Siemens Biograph mMR scanner...

INTRODUCTION: Currarino syndrome is a rare syndrome with multiple congenital anomalies including sacral agenesis, anorectal malformation, and presence of a presacral mass. Currarino syndrome is considered to be an autosomal dominant inherited disorder, with low penetrance and variable expressivity, but sporadic cases have also been reported. Mutations in MNX1 gene, mapped to 7q36, are the main causes of this syndrome. To the best of our knowledge, less than 400 cases of this syndrome have been mentioned in the literature...

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder characterised by the triad of anorectal, thumb, and ear malformations. It may also be accompanied by defects in kidney, heart, eyes, hearing, and feet. TBS has been demonstrated to result from heterozygous variants in the SALL1 gene, which encodes zinc finger protein believed to function as a transcriptional repressor. The clinical characteristics of an atypical TBS phenotype patient from a Chinese family are described, with predominant manifestations including external ear dysplasia, unilateral renal hypoplasia with mild renal dysfunction, and hearing impairment...

BACKGROUND: 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. METHODS: 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...

BACKGROUND: This study describes the presentation and initial management of anorectal malformation (ARM); evaluating the frequency, causes and consequences of late diagnosis. METHODS: A prospective, population cohort study was undertaken for newly diagnosed ARMs in the UK and Ireland from 01/10/2015 and 30/09/2016. Follow-up was completed at one year. Data are presented as n (%), appropriate statistical methods used. Factors associated with late diagnosis; defined as: detection of ARM either following discharge or more than 72 h after birth were assessed with univariable logistic regression...

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...

OBJECTIVES: Refractory functional constipation is a challenging condition to manage in children. The use of transanal irrigation (TAI) is well reported in children with neurological disorders as well as anorectal malformations but less so in children with functional disorders of defecation. The objective of our study was to evaluate the effectiveness, safety and outcomes of TAI in children with functional constipation. METHODS: PubMed, Scopus and Google Scholar were searched for publications related to the use of TAI in functional constipation...

Anorectal malformations (ARMs) are congenital diseases that lead to postoperative fecal incontinence, constipation, and soiling, despite improvements in surgery; however, their pathological mechanisms remain unclear. Here, we report the role of microRNA-141-3p in maintaining homeostasis between apoptosis and autophagy in the lumbosacral defecation center of fetal rats with ARMs. Elevated microRNA-141-3p expression inhibited YIN-YANG-1 expression by binding its 3' UTR, and repressed autophagy and triggered apoptosis simultaneously...

BACKGROUND: We aimed to compare among patients with high-type anorectal malformations (ARM): (i) short- and long-term outcomes of laparoscopic-assisted anorectoplasty (LAARP) compared to classic posterior sagittal anorectoplasty (PSARP) and (ii) the results of single-stage versus staged PSARP. METHODS: Using a defined search strategy, two independent investigators systematically reviewed the English literature. PRISMA guidelines were followed, and meta-analysis was performed using RevMan5...

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...

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...

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...

This case report presents a rare occurrence of triplication of the sigmoid, an unusual congenital anomaly, in a nine-month-old male with a known history of anorectal malformation. The patient, previously diagnosed with anal atresia and a rectourethral (prostatic) fistula, was admitted for the closure of his divided sigmoidostomy as the final step in correcting his anorectal malformation. Unexpectedly, during the release of the distal stoma, the presence of three distinct bowel lumens was discovered. To discern the native bowel, catheters were introduced into each lumen before proceeding with the excision of the triplicated sigmoid and subsequent stoma closure...

Alberto Peña's contributions to our understanding of pediatric perineal surgery and anatomy make this the rarest of anomalies both discernable and reparable. We diagnosed, managed and operated on the 24 th ever reported case of pure perineal groove. We review here the embryology, workup and surgical management necessary to successfully dispatch this disabling defect. Perineal grooves are so rare that a discussion of them is not included in Peña's masterpiece, "Surgical Management of Anorectal Malformations...