Congenital Anorectal Malformations Research Articles

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

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. 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. 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. A correlation exists between pelvic floor muscle development and postoperative defecation in children with Perineal fistula.

Хірургічне лікування природженої аноректальної вади розвитку з ректовезикальною норицею в хлопчиків

Congenital rectovesical fistula (RVF) is the most complex variant of anorectal malformations (ARM) in boys, characterized by a fistula connecting the rectum with the bladder. Purpose - to evaluate the results of surgical correction of RVF in children, using a differentiated approach to the diagnosis of this defect, depending on the anatomical options, the clinical course of associated defects, and, based on this, to develop the main tactical requirements for the treatment of this complex congenital ARM in children. Materials and methods. The study included 9 boys: 7 - RVF without pouch colon and 2 - RVF with congenital pouch colon, which accounted for 5.8% of all treated anorectal anomalies (n=154). Results. In patients with RVF without pouch colon: a double-stem disconnecting colostomy was performed in 3 (33.3%) and a double-stem loop colostomy in 4 (44.4%) boys. In children with RVF and pouch colon: a longitudinal, narrowing, stapler coloplasty of the large intestinal "pouch" was performed, with removal of the terminal stoma (n=1); formation of a double-stem disconnecting stoma without separation of the RVF, and at the II stage - elimination of the RVF, removal of the large intestinal «bag» and preservation of the ileostomy - as a permanent, lifelong stoma (n=1). In 7 (100%) patients with RVF without pouch colon at the II stage, abdomino-perineal posterosagittal anorectoplasty with separation of RVF was performed (n=5). At the III stage, 5 patients with RVF without a pouch colon underwent local access stoma closure. At the stages of primary correction of RVF 55.6% (n=5) of children had coloproctological complications. Conclusions. The use of a differentiated approach to diagnosis and methods of anorectoplasty, as well as the use of a complex of rehabilitation treatment in patients with RVF without a pouch colon made it possible to obtain good results in 50% and satisfactory results in 50% of children. Congenital pouch colon - a significant expansion of part or the entire colon already in the fetus, makes it possible to suspect and diagnose this defect in the prenatal period, and to carry out delivery and surgical correction in a specialized perinatal center. The research was carried out in accordance with the principles of the Declaration of Helsinki. The research protocol was approved by the Local Ethics Committee of the institution mentioned in the work. Informed consent of the patients was obtained for the research. No conflict of interests was declared by the author.

Pediatric intensive bowel continence rehabilitation training: a retrospective study to evaluate feasibility, tolerance and effectiveness.

Pediatric continence dysfunction is not uncommon. It causes long-term disability, impairing quality of life, activities and relationships with pears and can affect until adulthood. A high-risk population are children with Hirschsprung's disease and congenital anorectal malformation. Conservative medical and surgical management of continence dysfunction in this population is deeply described, while the rehabilitation issues are still unexplored. Aim of this study is to preliminary verify the feasibility, tolerance and effectiveness of an intensive technological aided and individualized pelvic floor rehabilitation program for pediatric patients. This is a single-center, retrospective observational study. The assessment was performed by collecting demographic data, general and local physical examination and scoring assessment tools (Rintala Continence Score and Wexner Score). The study was conducted in the Rehabilitation Unit of the pediatric Giannina Gaslini Institute, a tertiary care pediatric hospital in Genoa (Italy) between September 2015 to August 2019. We enrolled 31 children; 25 male (80.6%) and six females (19%), aged between 5 and 14 years (mean age 9 years) at the beginning of the training. Twenty children (65.5%) had Hirschsprung's disease, and 11 children (34.5%) had a congenital anorectal malformation. The rehabilitation training program was customized on the compromised function, the anatomic characteristics, the child's age and compliance. The training was aimed at improving tone, strength, endurance of the pelvic floor, compliance and rectal sensitivity, and also the frequency of the bowel movements. All patients enrolled in the study underwent an intensive outpatient treatment lasted 5 days for children older than 7 years; 10 days for younger. The intensive rehabilitation treatment was followed by a continuous home training program. Twenty-nine children (96.8%) completed the training. A global improvement is observed in continence functioning in all the cohort at T1 (P<0.0001), maintained at T3 (P<0.0001) at both Rintala Continence Score and Wexner Score. No adverse effects have been referred. Our specific pediatric training program for pelvic floor rehabilitation is effective and safe for children with continence dysfunctions after pelvic surgery due to Hirschsprung's disease and anorectal malformations. The continence rehabilitation multimodal program should be integrated in the care of children with continence dysfunctions. It cooperates in the prevention of the long-term health global impairment and also in the reduction of social economic effort.

Clinical characteristics of congenital heart defects in mild congenital anorectal malformation: single-centre experience

ObjectiveTo analyze the clinical characteristics and types of congenital heart defect (CHD) in mild congenital anorectal malformation (CARM), namely the rectoperineal and rectovestibular fistulas.MethodsThe retrospective study of 183 patients with mild CARM was conducted with assessments of demographic information, color Doppler echocardiography results, and follow-up data. We performed an analysis of the clinical characteristics of CHD, grouping them based on sex and type of mild CARM.ResultsOf the 183 patients, rectoperineal fistula occurred in 133 patients (72.7%), while the frequency of CHD was 79.8% (146/183). Ventricular septal defects (VSDs) occur more frequently in patients with rectoperineal fistula compared to those with rectovestibular fistula (1.5% vs. 10%), while the opposite trend was observed for patent ductus arteriosus (PDAs) (39.8% vs. 22.0%). Additionally, males presented higher frequency of PDA (42.7% vs. 26.4%) and self-healing (6 months: 87.2% vs. 42.6%; 12 months: 91.0% vs. 63.2%) than females. However, males had a lower rate of undergoing cardiac surgery (6.4% vs. 17.6%) and a younger median diagnosis age (1 day vs. 9 days).ConclusionOur study indicates that there is a necessity for meticulous cardiac assessment and follow-up in neonates diagnosed with mild CARM.

A Predictive Model to Identify the Effects of Transcutaneous Sacral Nerve Stimulation With Pelvic Floor Exercises in Fecal Incontinence After Surgery for Anorectal Malformation.

Although the combination of transcutaneous sacral nerve stimulation (tSNS) and pelvic floor exercises (PFEs) has shown significant effectiveness in treating fecal incontinence (FI) after surgery for congenital anorectal malformation (CARM), not all patients achieve satisfactory continence. Therefore, identifying which individuals will benefit from this method is crucial. A prospective cohort study enrolled 92 children with FI. All patients underwent tSNS with PFE treatment, and an improved outcome was defined as a Wexner score ≤4. A predictive model to identify the effects of tSNS with PFEs in FI was developed based on the analysis of magnetic resonance imaging and high-resolution anorectal manometry with area under the receiver-operating characteristic curve to evaluate the predictive value of external anal sphincter (EAS) thickness index and anal squeezing pressure (ASP). tSNS with PFEs improved outcomes in 72 patients and led to poor outcomes in 20 (4 had their rectums deviate from the puborectalis muscle center or puborectal muscle ruptures while 16 lacked EAS with a lower ASP). The areas under the receiver-operating characteristic curve for EAS thickness index and ASP in predicting the effects of tSNS with PFEs were 0.915 (95% confidence interval 0.846-0.983, P = 0.000) and 0.886 (95% confidence interval 0.819-0.952, P = 0.000), respectively. By applying cutoff values of 0.076 for EAS thickness index and 21.95 mm Hg for ASP, tSNS with PFEs was found to be ineffective. tSNS with PFEs is effective for most patients with FI after CARM surgery, except when the rectum deviates from the puborectal muscle center, puborectal muscle rupture occurs, or EAS is absent with a low ASP.

Long-Term Outcomes of Transanal Irrigation for Bowel Dysfunction.

Transanal irrigation (TAI) improves bowel function and quality of life in patients with neurogenic bowel disease compared to conservative bowel care. Its use has been extended to a range of defecatory disorders. However, data on long-term benefits and compliance are lacking. We aim to evaluate the long-term efficacy of TAI by examining compliance and patient outcomes over a five-year period. This study is a five-year retrospective review of patients practising TAI in a district general hospital. Patient demographics, indications, long-term compliance, adverse events, and patient-reported Qufora bowel symptom bother scores were analysed. A cohort of 18 patients had a median age of 61 (range 23-91) and were predominantly female (83.5%). The reasons for bowel dysfunction were diverse: low anterior resection syndrome, neurogenic bowel, congenital anorectal malformations, obstructed defecation, and functional disorders. Predominant symptoms were constipation (9), faecal incontinence (7), and mixed (2). Both high-volume (catheter and cone) and low-volume (mini cone) irrigation devices were used. Fourteen patients continued regular irrigation at a median follow-up of 27.7 months (range 5.1-72.3), while four had discontinued at a median follow-up of 4.8 months. The reasons for discontinuation were inadequate rectal evacuation and spontaneous improvement of symptoms. In the compliant group, there was a significant improvement in bowel symptom scores (p=0.003). No major adverse events, such as significant rectal bleeding or perforation, were noted. In this small cohort, TAI was safe and effective for long-term use; however, a fifth of patients discontinued treatment. Further work needs to be done to identify those patients who will benefit from TAI.

Хірургічне лікування ізольованої та асоційованої природженої ректопромежинної нориці в дітей

Congenital anorectal malformations (CARM) include a number of different options that differ in their anatomical and functional features. One of these options is rectoperineal fistula (RPF). Purpose - to evaluate the results of surgical treatment of congenital RPF in children, using a differentiated approach to diagnosis and methods of correction of its isolated and associated forms. Materials and methods. The study included 28 patients with RPF, which accounted for 18.2% of all treated CARM: boys - 18 (64.3%), girls - 10 (35.7%). Verification of the main disease and associated developmental defects was carried out on the basis of clinical and instrumental research methods. Isolated anorectal malformation (ARM) was diagnosed in 15 (53.6%) children, 8 (53.3%) boys, 7 (46.7%) girls, and associated - in 13 (46.4%) patients, 10 (76.9%) boys, 3 (23.1%) girls. Results. One-stage surgical treatment was performed in 2 (7.1%) patients with associated ARM. Staged surgical treatment, with colostomy removal and anorectoplasty, was performed in 26 (92.9%) children. Anterosagittal anorectoplasty was performed in 14/26 (53.8%) of children: 10 (71.4%) boys, 4 (28.6%) girls; minimal posterior sagittal - in 26.9% (7/26): 2 (28.6%) boys, 5 (71.4%) girls; posterior sagittal according to Pen, applied in 19, 2% (5/26), and only in boys. The third stage of treatment included closing the stoma from local access. Removal of the colostomy and formation of an end-to-end anastomosis was performed in 25 (96.1%) patients without complications. Conclusions. The use of a differentiated approach to diagnostics and methods of anorectoplasty, as well as the use of a complex of rehabilitation treatment for isolated and associated forms of ARM, allowed to obtain good results - in 81.5% and satisfactory results - in 18.5% of children. The choice of tactics for surgical correction of RPF should be individual for each patient, considering the anatomical and functional features of the defect, gender and the presence of a certain range of associated malformations. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of all participating institutions. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.

Three dimension high definition manometry evaluated postoperative anal canal functions in children with congenital anorectal malformations.

We aimed to evaluate the function of the reconstructed anal canal in postoperative anorectal malformations (ARMs) patients through three dimension (3D) high-definition anorectal manometry. From January 2015 to December 2019, 3D manometry was performed as a postoperative functional assessment of patients with ARMs divided into age subgroups based on the time of manometry. Manometric parameters, such as the length of the anorectal high-pressure zone (HPZ-length), the mean resting and squeeze pressure of HPZ (HPZ-rest and HPZ-sqze), recto-anal inhibitory reflex (RAIR), and strength distribution of the anal canal, were collected and compared with age-matched controls. Their functional outcomes were analyzed with SPSS 23.0 software for statistical analysis. 171 manometric measurements were performed on 142 postoperative patients (3 months∼15 years). The HPZ-rest in all patients was significantly lower than in age-matched controls (p < 0.05). HPZ-sqze was notably decreased in patients older than 4 years, whereas other age groups were comparable to controls (p < 0.05). The proportions of asymmetric strength distribution and negative RAIR were higher in ARMs patients. The type of anorectal malformations and lower HPZ-rest were the impact factors affecting postoperative functional outcomes. The majority of the ARMs patients had acceptable functional outcomes. 3D manometry can objectively assess the reconstructed anal canal function. The patients with fecal incontinence had a high proportion of extremely low HPZ-rest and HPZ-sqze, negative RAIR, and asymmetric strength distribution. The manometric details will help the clinicians explore the causes of defecation complications and guide further management.

Getting to the Bottom of It: Reducing the Burden of Congenital Anorectal Malformation Diagnostic Testing.

1Gastroenterology and Hepatology Department, Tel Aviv Medical Center, Tel Aviv Faculty of Medicine, Tel Aviv, Israel; 2Center for Neurointestinal Health, Division of Gastroenterology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA. Correspondence: Christopher Vélez, MD. E-mail: [email protected].

Diagnosing Mild Forms of Anorectal Malformation With Anorectal Manometry: A Prospective Study.

Rectoperineal congenital anorectal malformations (CARMs) are diagnosed by examining the perineum, combined with electric stimulation (ES) of the anal sphincter performed under anesthesia. This procedure may be troublesome because it is based on the observed contractibility of the sphincter. We aimed to add 3-dimensional high-resolution anorectal manometry (3D-HRAM) to the procedure and to assess its value for diagnosing rectoperineal forms of CARM. We prospectively included 66 patients younger than 24 months who presented with constipation and were suspected of CARM, idiopathic constipation, or Hirschsprung disease. The patients were assessed between 2015 and 2021 at University Medical Center Groningen, the Netherlands. All patients underwent 3D-HRAM, followed by the standard diagnostic procedure for either CARM or Hirschsprung disease. Of the 51 patients who underwent both 3D-HRAM and ES, we observed that patients with rectoperineal CARM revealed a pressure gap along the anterior part of the anal sphincter. Based on this observation, we diagnosed 35 patients with CARM. Subsequently, all 35 diagnoses were confirmed with ES. Sixteen patients were diagnosed as not having CARM, 100% of whom were in agreement with the gold standard-ES. Both the specificity and sensitivity of 3D-HRAM for diagnosing rectoperineal CARM were 100%. We consider 3D-HRAM a reliable tool for diagnosing and excluding rectoperineal CARM. Using this method in patients suspected of CARM might keep infants from undergoing unnecessary interventions requiring anesthetics, such as ES. By providing objective insight into the functional capabilities of the anal sphincter, anorectal manometry adds to the diagnosis.

Risk factors of postoperative voiding dysfunction in children with congenital anorectal malformation

This study analyzed the clinical data of children with anorectal malformation (ARM)who underwent surgery from 2006 to 2021, and explored the related factors of postoperative voiding dysfunction (VD).A total of 60 children including 51 males and 9 females, aged 4-15 years, were enrolled. During follow up, normal voiding function were found in 43 cases, VD in 17 cases. It was found that middle to high clinical classification (OR＝6.732, 95%CI:1.854-24.443), multiple surgeries (OR＝3.712, 95%CI:1.133-12.160), associated spinal deformity (OR＝3.297, 95%CI:1.029-10.566) and abnormal postoperative defecation (OR＝4.971, 95%CI:1.387-17.816) were the risk factors of VD after ARM (all P<0.05). Urodynamic study and early intervention should be carried out in children with VD after ARM surgery.

Вибір тактики хірургічного лікування природжених аноректальних вад розвитку з ректовестибулярною норицею в дівчаток

Anorectal malformations in girls include a wide range of abnormalities, from the non-perforated anal membrane to the cloaca. The most common is rectovestibular fistula. Purpose - to improve the results of surgical treatment of congenital anorectal malformations with rectovestibular fistula in girls using a differentiated approach to the choice of treatment tactics. Materials and methods. A comprehensive examination of children was performed. Associated congenital malformations diagnosed with this type of anorectal anomaly have been diagnosed. According to the literature, a comparative analysis of different methods of treatment of this pathology was conducted, using primary anterior sagittal and posterior sagittal anorectoplasty, as well as two-stage or three-stage correction. The analysis of own results of three-stage surgical treatment at 35 girls with a rectovestibular fistula was carried out. The first stage was the formation of a colostomy. The second stage was differentiated, using anterior sagittal or posterior sagittal anorectoplasty. Results. The third was the closure of the colostomy. In patients who underwent anterior sagittal anorectoplasty, the results were good in 6 (60%) and in 4 (40%) - satisfactory, and in posterior sagittal anorectoplasty - in 14 (60.9%) good, and in 9 (39.1%) - satisfactory. There were no unsatisfactory results. Conclusions. With adequate colostomy, the results of anterior sagittal and posterior sagittal anorectoplasty in the postoperative period are not significant. The choice of tactics for the treatment of rectovestibular fistula in children should be determined by the surgeon, based on the general condition of the child, the presence of associated pathology and perfection of mastery of the method of correction. The research was carried out in accordance with the principles of the Helsinki declaration. The study protocol was approved by the Local ethics committee of the participating institution. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.

Epidemiological Comparison of Anorectal Malformation With Other Gastrointestinal Abnormalities in Patients in the Pediatric Ward.

BackgroundAnorectal malformations are congenital defects wherein there is defective development of the anus and rectum. For babies born with congenital anorectal malformations, prompt treatment is crucial which requires detection of the anomalies at the earliest. This study aimed to determine the epidemiology ofanorectal malformations in the Pediatric Unit of a tertiary care hospital in Pakistan over a period of 19 months.MethodologyAn analytical cross-sectional study was conducted retrospectively from January 2020 to September 2021 using a non-randomized consecutive sampling technique. Patients aged less than eight years were included, whereas burnt, torn, and incomplete records from the Hospital Management Information System (HMIS) were excluded. SPSS version 26 (IBM Corp., Armonk, NY, USA) was used for data entry and analysis. Binomial and multinomial logistic regression were applied for analyzing the association between explanatory and dependent variables.ResultsOf the 1,108 patients, 72 (6.5%) patients had anorectal malformations. Gastrointestinal diseases made up about 64.3% of all diseases. Among gastrointestinal causes, the prevalence of anorectal malformation was up to 10.1%. The mortality of anorectal malformation patients was low (2.85%) compared to mortalities due to other gastrointestinal abnormalities (8.25%). Anorectal malformation had significantly lower odds of mortality (adjusted odds ratio = 0.19, p < 0.05) compared to other gastrointestinal abnormalities.ConclusionsThis study has provided data about the prevalence of anorectal malformation and its mortality which were calculated as 6.5% and 2.58%, respectively. Female gender, neonates, and delayed presentation were seen to have higher mortality, highlighting the need to screen all neonates pre- and post-natally to avoid any misdiagnosis.

Characterization of complete Currarino syndrome in pediatrics-a comparison between CT and MRI.

BackgroundThis study sought to analyze the computed tomography (CT) and magnetic resonance imaging (MRI) characteristics of the classical triad elements and the associated anomalies in pediatric complete Currarino syndrome (CS) to evaluate the advantages and disadvantages of the 2 different imaging methods in displaying the abnormalities of this disease.MethodsThe clinical and radiological features of 32 pediatric patients with complete CS diagnosed histologically and/or radiologically were retrospectively analyzed.ResultsAll 32 complete CS patients presented with the classical triad of congenital anorectal malformation (ARM), sacral agenesis, and presacral mass. Anal atresia, which is the most common congenital ARM, was observed in 19 of the 32 patients (59.4%). Sacral agenesis was mainly type IV (75%). Among the presacral masses, true tumors and pseudotumors accounted for about half each. All of the 15 true tumors were presacral teratomas. Twenty-five patients had associated anomalies, including tethered cord, filum lipoma, and hydronephrosis. Twenty-four patients underwent both CT and MRI examinations. While CT was better than MRI in displaying sacral anomaly (P<0.05), MRI was more sensitive than CT at detecting presacral mass, spinal dysraphism, and congenital anal atresia (P<0.05).ConclusionsCT and MRI have different efficiencies at displaying the abnormalities of the complete CS. As a non-invasive method, MRI has significant advantages in diagnosing complete CS, especially in revealing the details of ARM, presacral mass, and associated spinal dysraphism.

Reoperative surgery in anorectal malformation patients.

Currently accepted primary repair of congenital anorectal malformations (ARMs) includes a posterior sagittal incision, which allows for optimal visualization and identification of important pelvic structures and anatomical features. Reconstructive surgery involves meticulous dissection and separation of pelvic structures, and careful reconstruction can result in good functional outcomes for many patients, who live without ongoing sequelae from their malformation. However, some patients may require reoperative procedures for anatomic or functional reasons. Males and females present with slightly different symptoms and should be approached differently. Males are most likely to require reoperations for anorectal or urethral pathologies, but the urinary system is often spared in females-they instead must contend with Mullerian duct anomalies, of which there are many varieties. Depending on the original malformation and severity of symptoms, redo surgery may be needed to optimize function and quality of life. Surgical management with reoperative surgery in ARMs ranges from straightforward to complex, depending on the issue. One must weigh the risks of reoperative surgery and potentially creating more scarring against the need for a better anatomical and functional outcome. Current management trends and practice patterns with regards to reoperative surgery in ARM patients are not widely studied or standardized but we provide an overview of the more common pathologies, preoperative evaluation and workup required to identify the issues, and options for reoperative repair in these patients.

Transanal fistulectomy for postoperative persistent rectourethral fistula in patients with ARM: is simple resection enough?

BackgroundPostoperative rectourethral fistula (RUF) in patients with congenital anorectal malformation (ARM) remains a challenge for paediatric surgeons, among them persistent fistula is the most common. Various techniques have been proposed, only a few reports based on different causes are available, and there is no consensus so far. This study is to evaluate the application, advantages and limitations of transanal fistulectomy approach in repairing persistent RUF in ARM patients.MethodsFrom January 2007 to July 2019, 78 ARM patients who received revisional surgery for RUF were reviewed, 34 persistent fistulas were identified. Examination under anaesthesia included patients with fistulas that were located within 3 cm from the anus verge, good appearance of the anus and sphincter function, and no urethral and rectoanal obstruction. Three patients were excluded because of complex urologic pathologic defects. In total, thirty-one patients underwent transanal fistulectomy to repair RUF.ResultsAll cases were approached with transanal incision and fistulectomy to repair RUF. The average operative time was 91 ± 35 min. At a minimum six-month follow-up, 29 patients healed after the first attempt, the success closure rate was 93.5%. Two patients received redo transanal fistulectomy and healed. Two patients had postoperative complications: one patient had urethral stenosis and it was managed by dilation; one patient had urethral diverticulum but it did not require revisional surgery. No patient in this study was incontinent because of the surgery.ConclusionsTransanal fistulectomy provides a simple, straightforward, and safe approach to repair persistent RUF in ARM patients, especially in those with a low-lying fistula, good anus appearance and sphincter function without obstruction in the rectum or urethra.Trial registration: Retrospectively registered.

Етапне хірургічне лікування аноректальної атрезії, асоційованої з атрезією товстої кишки ІІ типу та аномаліями сечовивідної системи, у новонародженого хлопчика (клінічне спостереження та огляд літератури)

Anorectal malformation is a congenital anomaly and can be either isolated or associated. This malformation is often combined with other congenital defects, in particular VACTERL-association (anomalies of the spine, anal region, heart, trachea, esophagus, kidneys and extremities), which requires a comprehensive diagnosis in these patients. Congenital malformations of the gastrointestinal tract except for esophageal atresia are rare. The paper presents a clinical case of associated congenital anomalies of the gastrointestinal tract and urinary system in a newborn boy: congenital anorectal malformation without fistula, type II sigmoid atresia with bowel malrotation, vesicoureteral reflux, right-sided pyelectasia and coronal hypospadias. Comprehensive diagnostics before each stage of surgical treatment made it possible to determine the method and technique of surgical correction. This made it possible to preserve a part of the intestine which was presented in the form of an enterocyst to create a neorectum as well as to diagnose the functional incompetence of the preatritic segment of the colon and carry out its removal. Atresia of the sigmoid colon is not a common concomitant malformation in congenital anorectal malformation, but it should be taken into account in the differential diagnosis in newborns with progressive abdominal distension and anorectal atresia without fistula. The proposed staging of the surgical management of these associated malformations should be regarded as organ-preserving, allowing to restore the normal function of the gastrointestinal tract and urinary system, with a good functional result. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of these Institutes. The informed consent of the patient was obtained for conducting the studies. The authors declare no conflicts of interests. Key words: anorectal atresia without fistula, sigmoid atresia, vesicoureteral reflux, coronary hypospadias, surgical management, newborn boy.

Upregulation of PPPDE1 contributes to anorectal malformations via the mitochondrial apoptosis pathway during hindgut development in rats

Congenital anorectal malformations (ARMs) are among the most prominent deformities of the gastrointestinal tract; however, their precise aetiology remains obscure. Immunohistochemistry demonstrated that, in the ARM group, the PPPDE1-positive cells were widely distributed in the hindgut epithelial tissue from GD13 to GD16. Immunofluorescence revealed that most TUNEL-, Bax-, and Cytochrome C (Cyt C)-positive cells overlapped with PPPDE1-positive cells in the urorectal septum (URS). Western blotting and quantitative real-time RT-PCR revealed that PPPDE1 levels were significantly higher in the ARM group from GD13 to GD14 (p < 0.05). IEC-6 cells were transfected with PPPDE1 overexpression plasmid/NC (negative control) or si-PPPDE1/si-NC. Flow cytometry analysis and CCK-8 assay (used to detect apoptosis and proliferation, respectively), as well as western blotting, showed that the levels of PPPDE1 were positively correlated with the pro-apoptotic molecules Bax and Cyt C. Accordingly, aberrantly high expression of PPPDE1 caused a spatiotemporal imbalance in foetal rats with ARMs during hindgut development. Therefore, the upregulation of PPPDE1 may promote epithelial apoptosis and reduce proliferation in the hindgut via the mitochondrial apoptotic pathway. This could affect the fusion of the URS and cloacal membrane, ultimately inhibiting the hindgut development and resulting in ARMs.

Morbidity of congenital heart disease in children with anorectal malformations and related treatment

To investigate the morbidity of congenital heart defects(CHDs) in children with anorectal malformation, and to summarize appropriate treatment. The clinical data and echocardiographic findings of 155 children with congenital anorectal malformations from the Third Affiliated Hospital of Zhengzhou University during January 2016 and October 2019 were reviewed. According to the surgical findings of anorectal malformations, the patients were categorized as the high/intermediate group and the low group; the CHDs were classified as minor CHDs and major CHDs. Multiple logistic regression was used to analyze the correlation of wingspread classification, and extracardiac malformations with the severity of CHDs. Out of 155 children with anorectal malformations, 47 (30.3%) had different types of cardiac structural malformations, including 18 cases of minor CHDs (11.6%) and 29 cases of major CHDs (18.7%). Sixty children (38.7%) had extracardiac malformations, of which 38 cases (24.5%) had a single extracardiac malformation, 15 cases (9.7%) had multiple extracardiac malformations, 6 had trisomy 21 syndrome, and 1 had VATER syndrome. Multivariate logistic regression analysis showed that wingspread classification of anorectal malformation and extracardiac disorders were independent risk factors for major CHDs. The probability of major CHDs in children with high/intermediate anorectal malformation was 4.709 times higher than that with low anorectal malformation (OR=4.709, 95% CI: 1.651-13.432, P<0.01). The probability of major CHDs was 3.85 times higher for increasing each additional grade of extracardiac malformations(without, with single, or multiple malformations) (OR=3.850, 95% CI: 2.065-7.175, P<0.01). According to the presence and severity of CHDs, children with anorectal malformations were classified into three categories: without CHDs, with minor CHDs and with major CHDs, for differential treatment and management. Anorectal malformations would be treated and managed in children without CHDs and with minor CHDs following the original plan; however, children with minor CHDs may require cardiac follow-up after surgery. In children with major CHDs, the personalization tactics were developed based on the principle of emergency first. There were increased perioperative infection rate (P<0.05), longer hospital days (P<0.01), reduced cure rate (P<0.05) and increased mortality (P<0.05) in children with major, compared with those without CHDs and minor CHDs. The morbidity of major CHDs is higher in severe cases with high/intermediate anorectal malformation and acute cases without fistula or with obstructed fistula and cases with multiple congenital disorders. Echocardiography can define the type and severity of CHDs, which are useful to develop the optimal diagnosis and treatment plan for children with anorectal malformation.

Актуальні проблеми класифікації аноректальних вад розвитку в дітей у сучасних умовах (огляд літератури)

Given the diversity of anatomical and functional manifestations of congenital anorectal malformations, the most relevant remains development of classification of this pathology, for the same understanding by doctors of the manifestations of this defect and developing optimal common criteria for treatment tactics and strategies. The paper presents historical and current information on the classification of anorectal malformations in children. The main contradictory issues of the existing classifications are identified. The relevance of the use of Krickenbeck classification in the treatment of these defects is highlighted. Under the influence of different colorectal schools, historically, different educational and methodological approaches to the treatment of anorectal malformations. The first International Congress of Pediatric Surgeons was held in Melbourne, Australia, in 1970. The Melbourne meeting established an international classification of anorectal malformations. It was based on the development of defects at the stages of embryogenesis and their division by sex. Also, they are divided into: low, intermediate and high anorectal malformations. The second World Meeting of Pediatric Surgeons was held in Wingspread, Wisconsin, USA, in 1984, when F. D. Stephens and E. Smith, with a group of experts from around the world, proposed a detailed PAHR classification. The advantage of the Wingspread classification was that it could be used to predict the most optimal surgical treatment for various variants of anorectal defects. The third international conference on the development of standards for the treatment of congenital anorectal malformations took place in Krickenbeck, Germany, in 2005. This conference radically changed the latter classification, removing the terms «low», «intermediate» and «high» and the differences between female and male anomalies. The assessment depended on the presence and type of fistula. The reason for adopting such a classification was the great difficulty in comparing the results of different operations according to the old Wingspread classification. The peculiarity of this classification is the great contribution of colleagues from the Indian and Asian subcontinents to the surgical treatment of several anomalies, in particular: Pouch colon, which are rare in other countries. Today, pediatric surgeons in Ukraine generally do not use the Krickenbeck classification, despite the fact that it is generally accepted in most countries. This leads to the application of different approaches to the surgical treatment of congenital anorectal malformations, which emphasizes the relevance of further study of this issue. The informed consent of the patient was obtained for conducting the studies. Key words: congenital anorectal malformation, classification, children.