Anorectal Malformations Operated at University Hospital Brazzaville

Aim: To appreciate the care of children operated for an anorectal malformation. Materials and methods: It was a retrospective study carried out from January 2014 to December 2018 (5 years) in the department of pediatric surgery of university hospital of Brazzaville. Results: We retained 35 files including 20 boys and 15 girls. The mean age of discovery of the malformation was 1.7 days (range 0 and 4 days). On physical examination, we found intestinal occlusion in 22 patients (62.9%): the absence of an anal opening (62.9%), abdominal bloating with tympanism were the most represented signs. (57.1%). There were 13 cases (37.1%) of anorectal malformations high, 12 cases (34.3%) of low and 10 cases (28.6%) of intermediate. There were 20 cases (57.1%) of anorectal malformations without fistula and 15 cases (42.9%) with fistula. The mean age at the time of the anal plasty was 12.7 months (range 2 days and 14 years). We performed the anorectoplasty according to the Peňa and De Vries technique in 26 cases (74.3%), perineal anoplasty in 5 cases (14.3%) and a transposition of the fistula in 4 cases (11.4%). Twenty-seven patients (77.1%) were reviewed with an average follow-up of 2.7 years (1 year and 5 years extremes). The anus had a normal aspect in 20 cases (74.1%). We evaluated anal continence according to the Krickenbeck criteria in 10 patients aged over 3 years, and six had good results.

Late Diagnosis of Anorectal Malformations in Children

Anorectal malformations (ARM) include a wide spectrum of congenital defects of the anus, anal canal and rectum, which are often associated with congenital anomalies of other organ systems. They appear with different clinical presentations ranging from simple imperforate anal membrane to very complex defects. They are usually detected immediately after birth or early at neonatal age, but some patients with the milder defects are diagnosed at a later age. Objectives: The aim of this study is to analyze the incidence of patients with ARM diagnosed after neonatal period, clinical features and consequences of delayed diagnosis. Materials and Methods: Since 2010 we performed a combined retrospective and prospective analysis of a total of 76 patients with anorectal malformations, diagnosed and treated at our clinic between 2005 and 2014. We analyzed patients’ age at the time of diagnosis, sex, type of defect, associated anomalies and postoperative functional outcome. Results: 18 patients with ARM (23.68%) were diagnosed beyond the neonatal period. Of them 11 were female (61.11%) and 7 male patients (38.89%). The earliest diagnosed patient was a male of three months of age, while the latest diagnosed patient was a female of 8.5 years of age. All patients had low type anomalies, presented with anal stenosis (16), perineal fistula (1) and vestibular fistula (1). Six patients (33.33%) were also diagnosed with associated anomalies. Conclusion: High incidence of delayed diagnosis of ARM highlights the importance of a careful, comprehensive clinical examination of the perineum of newborns. All patients with severe and chronic constipation must be evaluated for eventually missed diagnosis of low type anorectal malformations.

Rno_circ_0005139 regulates apoptosis by targeting Wnt5a in rat anorectal malformations

BACKGROUND The molecular mechanisms underlying anorectal malformations(ARM)are not fully established.Circular RNAs(circRNAs)are new born non-coding RNAs,and their role in ARM is unclear.We assumed that rno_circ_0005139 influences apoptosis and proliferation by acting as a miR-324-3p sponge,and downregulating Wnt5a in ARM.AIM To identify the differential expression of circRNAs and mRNAs in a rat ARM model.METHODS Sixty-six pregnant Wistar rats were randomly divided into two groups:ARM group(2-imidazolidinethione-induced)and control groups.Embryos were harvested by cesarean delivery,and anorectal tissue was taken on embryonic days 16(E16),17(E17),19(E19),and 21(E21).RNA sequencing and gene microarray analysis was used to identify differentially expressed circRNAs and mRNAs in the ARM in a rat model.We selected 6 circRNAs and 3 mRNAs in the Wnt signal pathway from the result of the RNA sequencing and gene microarray analysis,and quantitative reverse transcription polymerase chain reaction was performed to evaluate their tissue expression.According to bioinformatics prediction,rno_circ_0005139 acted as a miR-324-3p sponge to regulate the expression of Wnt5a.We chose rno_circ_0005139 and Wnt5a as the final candidates.We tested the function of rno_circ_0005139 and the binding sites between rno_circ_0005139 and miR-324-3p,miR-324-3p and Wnt5a by luciferase assays.Co-transfection of rno_circ_0005139 and miR-324-3p was to verify their functional consistency.RESULTS We identified 38 upregulated and 42 downregulated circRNAs on E17(P<0.05),and 301 mRNAs were upregulated and 256 downregulated in the ARM on E17(P<0.05,fold-change>2.0).We found that rno_circ_0006880 and rno_circ_0011386 were upregulated,whereas rno_circ_0000436,rno_circ_0005139,rno_circ_0009285,rno_circ_0014367,Wnt5a,Wnt10b,and Wnt2b were downregulated in ARM tissues.According to bioinformatics prediction,rno_circ_0005139 acted as a miR-324-3p sponge to regulate the expression of Wnt5a.We chose rno_circ_0005139 and Wnt5a as the final candidates.Because the role and molecular mechanism of rno_circ_0005139 are poorly understood,its effect on apoptosis and proliferation was investigated by in vitro plasmid transfection.A luciferase experiment showed that rno_circ_0005139 could bind with miR-324-3p,which negatively regulated Wnt5a expression.The expression of miR-324-3p was significantly higher in ARM anorectal tissues than that in control group on E17 and E19;Wnt5a expression showed the opposite trend.In addition,a miR-324-3p inhibitor attenuated the effects of rno_circ_0005139 knockdown on ARM development.CONCLUSION Rno_circ_0005139 influences cell proliferation and apoptosis by acting as a miR-324-3p sponge,thereby downregulating Wnt5a in ARM.Accordingly,rno_circ_0005139,miR-324-3p,and Wnt5a could be targeted therapeutic factors for ARM.

Treatment of adult congenital anal atresia with rectovestibular fistula:A rare case report

BACKGROUND Female anorectal malformation is a correctable congenital defect.Delayed manifestations in patients with anal deformities are uncommon,especially after adolescence.CASE SUMMARY The clinical data of a 19-year-old adult female patient with congenital anal atresia accompanied by rectovestibular fistula as the main manifestation was retrospectively analyzed.Diagnosis was made based on the patient's clinical symptoms,signs,imaging showing the fistula,X-ray and magnetic resonance imaging results.The preoperative examination was improved.Anorectoplasty was performed.The patient exhibited an improvement in quality of life and presented no evidence of fecal incontinence during the 6-mo follow-up.CONCLUSION Transfistula anorectoplasty is a reasonable and reliable surgical method for the treatment of adult congenital anal atresia and rectovestibular fistula.

Infectious Pneumonitis Revealing an Anal Imperforation with Recto-Vaginal Fistula: A Case of Late Discovery in a 70-Year-Old Woman

Introduction: Anorectal malformations concern all anomalies of the terminal part of the digestive tract often diagnosed in the perinatal period. We report a clinical case of anorectal malformation discovered incidentally and very late at 70 years, following complications from the infectious syndrome. Observation: 70-year-old female patient, housewife, uneducated was referred to the hospital for acute febrile, cough, and mental confusion associated with chronic pelvic pain. The genito-anal examination showed an anal imperforation associated with a recto-vaginal fistula complicated by cervico-vaginitis. The evolution during hospitalization was favorable, but the patient died at home, 3 weeks after discharge. Conclusion: The discovery of anorectal malformation in adults is rare and exceptional in an elderly subject. This case demonstrates once again the challenges encountered in developing countries on the socio-economic and health levels.