Sexual function and fertility of adult males with anorectal malformations or Hirschsprung disease.

PURPOSE: The long-term impact of anorectal malformations (ARM) and Hirschsprung disease (HD) on sexual function is well recognized but understudied. This study evaluated self-reported sexual and fertility outcomes in adult males with ARM and HD. METHODS: This was an IRB approved, prospective study of males in the Adult Colorectal Research Registry who completed surveys between October 2019 and March 2022. Electronic surveys were administered after consenting to being contacted for research. Patients completed the International Index of Erectile Function (IIEF) questionnaire and provided information on fertility outcomes. RESULTS: Sixty-five patients completed outcome questionnaires: 11 (16.9%) had HD and 54 (83.1%) had an ARM. Nineteen patients reported some degree of erectile dysfunction per IIEF criteria, a greater proportion of whom have ARM (p = 0.046). Twenty (30.7%) have reported having children; there were no differences in rates between HD and ARM patients. Most patients had not attempted to conceive, but eight patients, all of whom have ARM, have pursued fertility investigation or treatments. CONCLUSION: More patients with ARM reported some degree of erectile dysfunction compared to those with HD. Additionally, some have required fertility treatments. Further investigation is warranted to ensure true low rates of sexual and fertility dysfunction in patients with HD.

Laparoscopic surgical technique to enhance the management of anorectal malformations: 330 cases' experience in a single center.

PURPOSE: Laparoscopic-assisted anorectoplasty (LAARP) is considered to benefit the patients with vesico-prostatic fistula. The aim of this study is to present the details of our LAARP technique for improving the short- and long-term outcomes in the patients with high and intermediate types of anorectal malformations (ARMs). METHODS: 330 patients with high-type (174 cases) and intermediate-type (156 cases) anorectal malformation (aged 8 days to 15 years) underwent LAARP from 2001 to 2019. LAARP was performed for full mobilization and resection of the dilated rectum, intra-rectal closure of the fistula, visualization, and enlargement of the center of the longitudinal muscle tube (LMT) from pelvic and perineal aspects. RESULTS: LAARP was performed in all patients and no patient was converted to open procedure. The urethral diverticulum was found in three patients (1.02%, 3/294) according to postoperative protocol voiding cystourethrogram but was not associated with any symptoms such as urinary tract infection and dysuria. Rectal prolapse requiring surgical intervention developed in 25 (7.6%) of 330 patients. Anal stricture occurred in three patients and re-do anoplasty was performed 5 months after LAARP. Anal retraction occurred in two patients and re-pull-through was conducted at 5 and 6 days, respectively, after LAARP. 228 patients who were older than 3 years were followed up. The median follow-up period was 5.8 years (range 3-15 years). 217 patients (95.2%) had voluntary bowel movements; 202 patients (88.6%) were free from soiling or with grade 1 soiling; 30 patients (13.6%) and 25 patients (11.3%) suffered from grade 1 and grade 2 constipation, respectively, while no patient had grade 3 constipation. CONCLUSION: Our experience demonstrates that the LAARP has advantages on rectal mobilization and resection, intra-rectal fistula closure and accurate tunnel formation in the LMT with minimal trauma. The improvement of the short-term and long-term outcomes after LAARP has been shown not only for high-type ARM but also for intermediate-type ARM.

Scientific solution to a complex problem: physiology and multidisciplinary team improve understanding and outcome in chronic constipation and faecal incontinence.

PURPOSE: There is a lack of diagnostic credibility to direct focused management for children with chronic constipation (CC) and faecal incontinence (FI). The aim is to assess the impact of an innovative Children's Anorectal Physiology Service (CAPS) focusing on improving outcomes in children with CC/FI. METHODS: Prospective data: demographics, bowel and quality of life (QoL)/risk of distress questionnaires. Diagnostics: awake high-resolution anorectal manometry (AHRAM), endoanal ultrasound and transit marker studies (TMS). RESULTS: Total patients: 112; 66 males (59%); median 9 years (17 months to 16 years). Patient groups included: 89 (79%) had functional CC/FI; 9 (8%), Hirschsprung's disease; 12 (11%), anorectal malformations and 2 (2%), trauma. St Marks Incontinence score (SMIS) abnormal in 91 (81%) and Cleveland Constipation Score (CCS) in 101 (90%) patients. Anorectal manometry: 94 (84%) awake and 18 (17%) under anaesthesia. Play specialist input 37 (33%) patients. AHRAM abnormal 65 (58%): sphincter dysfunction 36 (32%) and altered rectal sensation: hyposensitive 22% (20/91); 21% (19/91) hypersensitive. TMS normal in 64 (57%), 17 (15%) slow transit and 27 (24%) rectal evacuatory disorder. Risk of distress in 38% and poor QoL in 55% patients which correlated with abnormal SMIS (p = 0.02). Patient/parent satisfaction improved significantly (p < 0.05). CONCLUSIONS: Scientific investigations combined with multidisciplinary team improve patient satisfaction and reduces patient self-report illness severity. A complex problem requires a scientific solution.

Quality of life and defecative function 10 years or longer after posterior sagittal anorectoplasty and laparoscopic-assisted anorectal pull-through for anorectal malformation.

PURPOSE: In our center, patients with anorectal malformation, including males with recto-vesical (RV)/recto-bladder neck (RBN)/recto-prostatic urethral (RU) fistulas, and females with recto-vaginal (RV) fistulas have been treated by posterior sagittal anorectoplasty (PSARP) before 2000, and by laparoscopic-assisted anorectal pull-through (LAARP) thereafter. We would like to compare the quality of life (QOL) and long-term defecative function between these two groups of patients 10 years after reconstructive surgery. METHODS: Patients who underwent LAARP between 2001 and 2005 were compared with historical controls treated with PSARP between 1996 and 2000. Degrees of continence were graded by the Krickenbeck classification and Kelly's score. QOL was assessed by Hirschsprung's disease/Anorectal Malformation Quality of Life (HAQL) questionnaire. Results were compared using Chi-square test and t test. RESULTS: There were 14 LAARP and 7 PSARP patients. All attained voluntary bowel movements. Moderate to severe soiling (Krickenbeck Grade 2 and 3) was found in 3/14 LAARP (21.4%) and 1/7 PSARP (14.3%) patients, p = 1.00. Constipation requiring use of laxatives was present in 3/14 LAARP (28.6%) and 1/7 PSARP (14.3%) patients, p = 0.62. Mean Kelly's scores were 3.79 ± 0.98 (LAARP) and 4.71 ± 1.25 (PSARP), p = 0.12. No patient required Malone antegrade continence enema (MACE). The QOL scores based on the HAQL questionnaire were comparable between the two groups in all areas except social functioning, in which the LAARP patients attained a significantly lower mean score (26.4 vs 71.7, p = 0.0001). CONCLUSION: The 10-year outcome between LAARP and PSARP patients in terms of QOL and defecative function is comparable. Impairment in social functioning in these patients is reflected by the self-reported lower level of functioning.

Quality of life and functional outcome in Swedish children with low anorectal malformations: a follow-up study.

PURPOSE: The aim was to investigate the quality of life and bowel function in children with low anorectal malformations (ARM). ADDITIONAL AIM: To evaluate the Swedish version the Hirschsprung's Disease/Anorectal Malformation Quality of life Questionnaire (HAQL). METHODS: Forty-four children and their parents were invited to complete the HAQL and the Bowel Function Score (BFS). Healthy children participated as controls and completed the HAQL. RESULTS: Seventeen children and 18 mothers completed the HAQL. The children reported impaired function in the physical symptom (PH) fecal continence (FC) and laxative diet (LD) domains compared to controls. Compared with their mothers, they reported impaired physical function and more symptoms in the emotional functioning (EMF) and PH domains. 27 families completed the BFS; 63% reported normal bowel function, 33% moderate outcome and one patient, comprising 4%, poor outcome. Evaluation of the HAQL, FC, EMF and PH domains showed no obvious conflicts. CONCLUSIONS: The children did not differ much regarding their QoL, even though they appeared to have impaired bowel function and worse emotional functioning compared to controls. The mothers underestimated their children's physical symptoms and overestimated their emotional functioning. Evaluated domains in the HAQL appear to work as intended, but the questionnaire needs further development.

The change over time in the postoperative bowel function in male anorectal malformation patients who underwent sacroperineal anorectoplasty and sacroabdominoperineal anorectoplasty.

PURPOSE: Many kinds of operative procedures have been proposed for anorectal malformation (ARM) patients. At our institution, sacroperineal or sacroabdominoperineal anorectoplasty (SP-SAP) have been performed from 1984 to 2007. The aim of this study is clarify the change over the time in the postoperative bowel function in male ARM patients. METHODS: Patient data were collected from 1984 to 2007. Fifty-two male patients with high- and intermediate-type ARM were enrolled. The patients' characteristics and bowel function were reviewed and analyzed retrospectively. The bowel function was evaluated according to the evacuation score (ES) of the Japan Society of ARM Study Group. RESULTS: The operative procedures were SP-SAP in 52 male patients. The total ES improved chronologically and significantly until 11 years of age. Regarding the clinical stratification of the ES, the ratio of "excellent" and "good" results was over 91.9% at 11 years of age. A satisfactory bowel movement score was achieved by 9 years of age. The constipation, incontinence and soiling scores improved slowly but continuously until 11 years of age. CONCLUSION: The ES showed continuous improvement after a definitive operation. An understanding of the characteristics of improvement is very important in managing the postoperative bowel function in ARM patients.

Impaired growth outcomes in children with congenital colorectal diseases.

BACKGROUND: Cloaca, Hirschsprung disease, and anorectal malformations (CHARM) are congenital anomalies of the hindgut. Small series have suggested that children suffering from one of these anomalies may be at risk for growth impairment. We sought to expand on these findings in a comprehensive cohort, hypothesizing that patients with Medicaid insurance or African-American (AA) race would be at higher risk for poor growth. METHODS: Following Institutional Review Board (IRB) approval, single-institution retrospective review of children with CHARM anomalies was performed (2009-2016). Body mass index (BMI) value Z-scores were obtained using the 2006 World Health Organization (age 0-24 mo) and 2000 Centers for Disease Control (CDC) (age >2 y) growth charts and calculators (statistical analysis system). Patient factors and BMI Z-scores were analyzed with descriptive statistics and Fisher's exact test. RESULTS: One hundred sixty-six patients (Cloaca n = 16, Hirschsprung disease [HD] n = 71, anorectal malformation [ARM] n = 79) were identified. The BMI Z-score distribution for the entire CHARM cohort was lower than controls (P < 0.0001). HD and ARM BMI Z-scores were also lower versus controls (P < 0.0007, P < 0.0037). Requiring more or less than the average number of surgeries did not impact BMI Z-score [P = non-significant (NS)]. Patients with Medicaid had lower Z-scores versus private or commercial insurance (P < 0.0001). AA race BMI Z-score distribution was lower than controls (P < 0.0002), but there was no statistical difference in BMI Z-scores when comparing AA versus non-AA CHARM patients (P = NS). CONCLUSIONS: Patients born with CHARM anomalies are at risk for impaired growth. Furthermore study is warranted to identify modifiable risk factors contributing to this impairment. Longitudinal follow-up should include interventions to mitigate these risks.

Current treatment of pelvic organ prolapse correlated with chronic pelvic pain, bladder and bowel dysfunction.

PURPOSE OF REVIEW: The purpose of this review is to critically analyze the relationship between symptoms of abnormal emptying of the bladder, urgency, pelvic pain, anorectal dysfunction and pelvic organ prolapse (POP) and to present evidence in order to show how many of the above mentioned symptoms can be cured or substantially improved by repair of specific pelvic ligaments. RECENT FINDINGS: In this review, we provide evidence to show how often these dysfunctions occur and how they can be cured in 42-94% by appropriate pelvic floor surgery in the longer term, up to 2 years. Laxity in ligaments and/or vaginal membrane due to damaged connective tissue may prevent the normal opening and closure mechanism of urethra and anus, because muscles need finite lengths to contract properly. Hypermobility of the apex can irritate the pelvic plexus causing chronic pelvic pain. In consequence, dysfunctions as abnormal emptying of the bladder, urgency, pelvic pain, fecal incontinence and obstructed defecation can occur in women with different degrees of POP. SUMMARY: In conclusion, it has to be recognized that women bothered by these symptoms should be examined for POP and appropriately advised for possibility of cure by pelvic floor surgery after careful selection. VIDEO ABSTRACT.

More than fetal urine: enteral uptake of amniotic fluid as a major predictor for fetal growth during late gestation.

UNLABELLED: The purpose of our study was to investigate the importance of amniotic fluid (AF) for fetal growth during late gestation using esophageal atresia (EA) patients as a model. In this retrospective cohort study, we compared the z-scores adapted for birth weights (BW z-scores) for each of 517 European newborns with congenital pre-gastric intestinal atresia, i.e., EA, to a European reference population. To account for the influence of the intestinal atresia on fetal growth per se, we compared adapted birth weights for each of 504 European newborns with post colonic intestinal atresia (anorectal malformation (ARM) with atresia of the anus) to the same European reference population. Analysis of the complete cohort showed (i) a significantly higher rate of small for gestational age newborns among EA compared to ARM newborns (p < 0.001) and (ii) significantly lower BW z-scores among EA compared to ARM newborns (p < 0.001). BW z-scores of EA newborns were significantly lower in term compared to preterm newborns with an inverse correlation with gestational age (GA) (Spearman correlation coefficient, r = -0.185, p < 0.001). CONCLUSIONS: Enteral uptake of AF seems to play a pivotal role in fetal growth during late gestation. WHAT IS KNOWN: • Peak velocity of fetal weight gain occurs at 33 weeks of gestation and continues until birth. During this period, fetal growth is mainly characterized by cellular hypertrophy. • Amniotic fluid (AF) comprises large amounts of hormones and growth regulators. What is New: • A significantly higher rate of small for gestational age and lower birth weights and z-scores are observed among newborn infants with congenital pre-gastric intestinal atresia. • These findings suggest that enteral uptake of AF is a major predictor for fetal growth during late gestation.

Experience with the management of anorectal malformations in Ibadan, Nigeria.

INTRODUCTION: anorectal malformation is a multi-systemic birth defect of the distal gastrointestinal tract, the management of which is challenging to the surgeons, the patients and the parents. The presence of associated congenital malformations may worsen the outcome with consequent psychosocial effects on the patients and the parents. The characteristics of anorectal malformations with the challenges associated with their management and the outcomes are therefore presented here. METHODS: all patients managed for anorectal malformations from January 2003 to December 2017 were studied. Patients´ demography, clinical presentations, types of malformations, associated anomalies, procedures performed, post-operative complications and management outcome were obtained and analysed. RESULTS: eighty-eight children with anorectal malformations comprising 61 (69.3%) boys and 27 (30.7%) girls were studied with 76 (86.3%) patients presenting within the first year of life. Low anorectal malformation was observed in 14 (15.9%) patients, 71 (80.7%) patients had intermediate or high malformations and cloacal malformation was present in 3 (3.4%) patients. Associated congenital malformations were observed in 18 (20.5%) patients with 10 (55.6%) patients associated with intermediate or high malformations and urogenital system was the most common system whose anomalies were associated with anorectal malformations in 12 (13.6%) patients. Anoplasty was performed on 14 (15.9%) patients, posterior sagittal anorectoplasty was performed on 67 (76.1%) patients, abdominosacroperineal pull through on 4 (4.6%) patients and posterior sagittal anorectovaginourethroplasty on 3 (3.4%) patients. Six (6.8%) neonates died. CONCLUSION: immediate post-operative outcome was good; however, good functional outcome can only be assessed in an atmosphere of good follow-up which is still a problem in our environment.

Cardiorespiratory performance and locomotor function of patients with anorectal malformations.

The aim of this study was to assess whether adolescents following anorectal malformation repair have a decreased cardiorespiratory performance capacity and impaired motor skills. All eligible children treated for ARMs between 2000 and 2014 were invited to participate in a prospective study consisting of a clinical examination, evaluation of Bowel function and Quality of Life, spirometry, spiroergometry and assessment of the motor activity. The results were compared to a healthy age- and sex-matched control group. There was no statistically significant difference in height, weight, BMI, muscle mass or body fat percentage between the study and the control group. Nine out of 18 patients (50%) had an excellent functional outcome with a normal Bowel Function Score. Spirometry revealed no significant differences between ARM patients and controls, four patients showed a ventilation disorder. Spiroergometry revealed a significantly lower relative performance capacity and the overall rating of the motor activity test showed significantly decreased grades in ARM patients. ARM patients were affected by an impaired cardiopulmonary function and decreased motor abilities. Long-term examinations consisting of routine locomotor function evaluation and spiroergometry are advisable to detect impaired cardiopulmonary function and to prevent a progression of associated complications and related impaired quality of life.

Ongoing care for the patient with an anorectal malfromation; transitioning to adulthood.

Planned health care transition can improve the ability of young adults to manage their own health care to effecively use health services and ultimately maximize life-long functioning and well-being. Transitional care is a purposeful, planned process that addresses the medical, psychosocial and educational needs of adolescents and young adults with chronic physical and medical conditions as they move from child-centered to adult-oriented healthcare systems. Unsuccessful surgical transtion may result in physical and mental health implications for young patients, negative long-term outcomes and suboptimal use of health care resources. Anorectal malformation and Hirschsprung patients are an especially vulnerable patient population with ongoing surgical, physiologic and pyschosocial challenges.

Transperineal Intracath Meconiolysis and Evacuation Technique of "Distended" Bowel Evacuation for One-Stage Laparoscopic Anorectoplasty for High Anorectal Malformations in Males.

Introduction: One-stage anorectoplasty provides maximum potential for "normal" defecation reflexes right at birth and avoids complications and problems of colostomy. One-stage laparoscopic anorectoplasty (OSLARP) for rectourinary fistula (RUF) is restricted by distended bowel obscuring the working space for laparoscopy. This study describes transperineal intracath meconiolysis and evacuation (TIME) technique for OSLARP in the treatment of RUF in neonates. Materials and Technique: High male anorectal malformation (ARM) admitted from January 2016 to March 2019 were included in the study. Diagnosis of level of ARM was made on the basis of invertogram. Patient presenting with lethal comorbidities were excluded who underwent colostomy. The technique involved placement of a 16G intracath in the perineum through the site of future neo-anus, which was identified using muscle stimulator. Meconiolysis and evacuation was done using warm saline and 2% N-acetyl. The creation of enough abdominal space was achieved after evacuation and two working instruments were placed in paraumbilical positions. The laparoscopic dissection and division of fistula was done as followed in standard laparoscopic anorectoplasty. Results: Seventeen patients were selected for TIME technique but on laparoscopy 2 patients had severe necrotizing enterocolitis hence they underwent laparoscopy-assisted high sigmoid colostomy. Fifteen patients underwent OSLARP successfully. Mean weight was 2.5 ± 0.4 kg, mean gestational age was 36 ± 5 weeks, and mean age of presentation was 3.5 ± 1 days after birth. The TIME technique was successful decompressing bowel in all the patients. Out of 15 patients of OSLARP, 14 had rectoprostatic urethral fistula and 1 had rectovesical fistula. Mean total operative duration of OSLARP was 46 ± 15 minutes. Patients who could be followed for 3 years had good results in terms of continence and bowel movements. Discussion: TIME technique is a very simple and effective way to overcome the problem of associated colonic distention in neonatal one-stage laparoscopic anoplasty.

Upregulation of miR-92a-2-5p potentially contribute to anorectal malformations by inhibiting proliferation and enhancing apoptosis via PRKCA/ß-catenin.

Anorectal malformations (ARMs) is one of the most common gastrointestinal anomalies. Previous research revealed that miR-92a-2-5p was upregulated in ARMs. However, the underlying roles remains unknown. The current study was to further investigate the spatiotemporal expression patterns of miR-92a-2-5p and its target gene protein kinase C alpha (PRKCA) predicted by bioinformatic method, and to explore their potential functions in anorectal malformations (ARMs). Rat models with ethylenethiourea-induced ARMs were made for subsequent experiments. Direct target relationship between miR-92a-2-5p and PRKCA was validated using a luciferase reporter assay. The spatiotemporal expression pattern of miR-92a-2-5p was evaluated using fluorescence in situ hybridization (FISH), while the expression of PRKCA was revealed by immunohistochemical staining and western blotting. IEC-6 cells were transfected with mimics/mimics NC (Negative control)/inhibitor/inhibitor NC of miR-92a-2-5p or si-PRKCA/si-PRKCA NC, respectively. Then the downstream molecules of miR-92a-2-5p, PRKCA and ß-catenin, were subsequently detected. Meanwhile, apoptosis and viability assays were measured. Dual luciferase assay confirmed the direct regulatory relationship between miR-92a-2-5p and PRKCA. FISH revealed that miR-92a-2-5p was expressed with a higher level in ARMs fetuses. Further analyses of PRKCA showed lower protein expression level in ARMs group, which was opposite to miR-92a-2-5p. In vitro experiments revealed that overexpression of miR-92a-2-5p or knockdown of PRKCA can down-regulate PRKCA, up-regulate and facilitate nuclear localization of ß-catenin, increase apoptosis and decrease proliferation of IEC-6. Taken together, these findings suggest that aberrantly high expression of miR-92a-2-5p potentially contribute to ARMs by inhibiting proliferation and enhancing apoptosis of intestinal cells via negatively regulating PRKCA/ß-catenin.

Testicular function and sexuality in adult patients with anorectal malformation.

PURPOSE: To collect data on sexual and fertility issues in adult male patients with history of anorectal malformations (ARM). MATERIALS AND METHODS: Thirty adult males born with ARM, cared for at the Pediatric Surgery of Treviso and Padua Hospitals, were enrolled and interviewed about sexual habits and relationships. Testicular ultrasound, evaluation of male sex hormones and semen analysis were performed to assess testicular function and compare data with 15 fertile controls. Presence of erectile dysfunction was evaluated with IIEF-5 questionnaire. RESULTS: Cryptorchidism and recurrent orchiepididymitis were reported in 33% and 40% of patients, respectively. Average testicular volume resulted significantly lower than fertile controls (11.1 vs 14.3 mL, p = 0.002) and 53.5% presented testicular hypotrophy (<10 mL). Erectile dysfunction was reported by a single patient and ejaculatory anomalies by 46.5%. Thirteen patients were azoospermic/cryptozoospermic; 6 of them presented a reduced peripheral sensitivity to androgens (ASI > 139). Coital debut resulted delayed at 18 years old (vs 15 years in the control group). Overall 63.5% reported their condition did not affect their sexual sphere. CONCLUSIONS: Evaluation of testicular function is recommended in ARM patients to detect and treat possible infertility disorders, to recognize the clinical conditions which could affect the spermatogenesis since childhood, and to guarantee psychological support. LEVEL OF EVIDENCE RATING: Prognosis study. Level III (case-control study).

Rectal Prolapse After Laparoscopically Assisted Anorectoplasty for Anorectal Malformations.

Aim: To clarify the characteristics of patients with rectal prolapse after laparoscopically assisted anorectoplasty (LAARP), estimate the causes, and evaluate its impact on postoperative bowel function. Methods: The medical records of patients who underwent LAARP for high- or intermediate-type anorectal malformation between 2000 and 2019 were retrospectively reviewed. Clinical data were compared between patients with (Group P) and without prolapse (normal, Group N). Fecal continence was evaluated using the clinical assessment score for fecal continence developed by the Japanese Study Group of Anorectal Anomalies. For patients who underwent pelvic magnetic resonance imaging (MRI) before LAARP, atrophy, or asymmetry of the anal sphincter and levator ani was evaluated by a radiologist. Results: Of the 49 patients, 29 (59%) had rectal prolapse after LAARP (Group P) and 20 did not (Group N). We found no significant difference in gender, type of malformations, incidence of associated spinal or lumbosacral anomalies, procedure time, and postoperative bowel function at ages 4, 8, 12, and 16 years. However, LAARP was performed significantly earlier in Group N (median [range], 180 [123-498] days) than in Group P (210 [141-570] days). In Group P, 18 patients (62%) developed prolapse before colostomy takedown. Eight of 26 patients who underwent surgical prolapse repair required redo procedures. Twenty-five patients who underwent preoperative pelvic MRI showed no significant relationship between the muscular abnormalities and the incidence of postoperative rectal prolapse. Conclusions: Although recurrence is common, performing LAARP at a younger age might prevent postoperative prolapse development.

Does clinical score accurately support fecoflowmetry as a means to assess anorectal motor activity in pediatric patients after anorectal surgery?

PURPOSE: We investigated the relationship between Krickenbeck score (KS) and fecoflowmetry (FFM) parameters and assessed the characteristics of this new questionnaire test by comparing Kelly's clinical score (KCS) in pediatric patients with anorectal surgery for anorectal malformation (ARM) and Hirschsprung's disease (HD). METHODS: We enrolled pediatric patients who underwent anorectal surgery for ARM or HD. Bowel function was assessed with KS and KCS thereafter, FFM and anorectal manometry (AM) were conducted. Patients were divided into subgroups according to each parameter of the scoring system and each FFM parameter was compared among the KCS or KS subgroups, respectively. Moreover, correlation analyses were conducted between FFM and AM parameters. RESULTS: The comparison of FFM parameters among the subgroups of KCS showed that Fmax in the KCS staining 2 group was significantly higher than that in KCS staining 1 group and the Fmax in KCS sphincter squeeze 1 group was significantly higher than that in KCS sphincter squeeze 0 group. Moreover, Fmax in the KCS "good" group was significantly higher than that in the KCS "fair" group. The comparison of FFM parameters among the subgroups of KS parameters showed that TR in the no soiling group was significantly higher than that in the KS grade 2 soiling group. FFM and AM parameters showed a significant positive correlation between Fmax and voluntary squeezing anal pressure. CONCLUSION: FFM clarified the different characteristics of two scoring systems, namely, KCS reflects the anal sphincter performance, whereas the KS soiling score might reflect the tolerance and evacuation ability.

Experiences of Rectovaginal Fistula in Anorectal Malformation.

BACKGROUND: Rectovaginal fistulas (RVFs) are very rare malformations in females with anorectal malformations (ARMs). Here, we share the clinical features of RVF and report the long-term outcomes. METHODS: RVF patients were classified using a retrospective analysis of ARM patients who underwent operations at Seoul National University Hospital between January 1999 and May 2017. The Krickenbeck continence scoring system was used to evaluate bowel function 5 and 10 years after surgery. RESULTS: Of the total 460 ARM patients, 203 were female, 7 of whom were diagnosed with RVF. The median age and weight at the time of anorectoplasty were 292 days (range, 140-617) and 8.2 kg (range, 5.5-12), respectively. Six patients had associated anomalies and three patients underwent redo-anorectoplasty. Voluntary bowel movements were observed in 6 out of 7 patients at 5 and 10 years of age. Soiling was observed in all patients at the age of five years and in 6 out of 7 patients at the age of ten years. Constipation was observed in 6 out of 7 patients at both five and ten years of age. CONCLUSIONS: An RVF is a very rare malformation, accounting for 1.5% of total ARMs and 3.4% of ARMs in females. Long-term counseling, education, and guidance are needed for effective management of patients' bowel movements. TYPE OF STUDY: Prognosis study LEVEL OF EVIDENCE: Level IV.

Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature.

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of short stature, microtia and absent or small patellae. We report on a patient with MGS secondary to biallelic mutations in CDC45 detected on whole exome sequencing (WES). Patients with MGS caused by mutations in CDC45 display a distinct phenotype characterized by craniosynostosis and anorectal malformation. Our patient had craniosynostosis, anorectal malformation and short stature, but did not have the microtia or patella hypoplasia. Our report also highlights the value of WES in aiding diagnosis of patients with rare genetic diseases. In conclusion, our case report and review of the literature illustrates the unique features of CDC45-related MGS as well as the benefits of WES in reducing the diagnostic odyssey for patients with rare genetic disorders.

Impact of Spinal Defects on Urinary and Sexual Outcome in Adults With Anorectal Malformations-A Cross-sectional Study.

OBJECTIVE: To examine the impact of spinal defects on urinary function, sexual outcome and quality of life in adult patients born with anorectal malformations. MATERIALS AND METHODS: A prospective cohort study at Odense University Hospital in Denmark was conducted. From 1985 to 2000, 93 patients were found eligible for participation. Twenty-seven (29%) consented to participate. One patient refrained from clinical examinations. Patients were examined with magnetic resonance imaging, uroflowmetry, and validated questionnaires on urinary function, sexual function, and quality of life. RESULTS: There were 14 were females and 13 were males, median age of 25 (range 19-31) years and 23 (18-32) years, respectively. The type of anorectal malformations in females were vestibular fistula (n = 6), anocutaneous fistula (n = 4), anal stenosis (n = 3), and cloaca (n = 1). In males the type of malformations were anocutaneous fistula (n = 4), bulbar fistula (n = 4), rectovesical fistula (n = 2), anal stenosis (n = 1), rectal atresia (n = 1), and anal atresia with no fistula (n = 1). Patients with spinal defects had a lower average voiding rate compared to patients with normal spinal anatomy (P .03), a lower voiding-related quality of life (P .02), and a tendency was observed toward a worse total urinary incontinence-related quality of life score (P .06). Moreover in patients with spinal defect a tendency was seen toward a worse general quality of life (P .09). CONCLUSION: Spinal defects detected by magnetic resonance imaging in adults with anorectal malformations were found to be associated with urinary voiding function.