Fertility concerns and outcomes in females with anorectal malformations.

PURPOSE: To assess fertility concerns and to describe pregnancy outcomes in patients with anorectal malformations (ARM). METHODS: This is an IRB approved, cross-sectional study of patients in the Adult Colorectal Research Registry who completed reproductive health surveys between November 2021 and August 2022. Patients assigned female at birth with age 18 or older and ARM were included. RESULTS: Sixty-four patients with ARM, age 18 or older, were included. Fertility concerns were reported in 26 (40.6%) patients, 11 of which had seen a fertility specialist, including four who had not yet tried to conceive. Fertility concerns were highest amongst cloaca patients who had not yet tried to conceive (37.5%). 26 (40.6%) patients had tried to conceive, of which 16 (25%) reported fertility problems, most frequently uterine abnormalities and damaged or blocked fallopian tubes. 22 (34.4%) participants were able to conceive and 18 (28.1%) had at least one live birth. Patients with ARM who had concerns of fertility, had better FertiQoL when compared to published reference scores for patients experiencing fertility issues. CONCLUSION: Providers should be aware of fertility concerns in patients with ARM. Proactive counseling with referrals to a fertility specialist should be considered in patients who desire future fertility.

Gastrointestinal quality of life and bowel function in adults born with anorectal malformation and hirschsprung disease.

PURPOSE: To assess the quality of life and disease-specific functioning of adults with anorectal malformations (ARM) or Hirschsprung disease (HD) compared to healthy reference scores. METHODS: Patients with the diagnosis of ARM or HD from the Adult Colorectal Research Registry completed the Short Form 36 Health Survey (SF-36), the Gastrointestinal Quality of Life Index (GIQoLI), and the Bowel Function Score (BFS) between October 2019 and August 2022. One-sample Wilcoxon test compared the results to reported healthy references with a significance level of < 0.05. RESULTS: The response rate was 67%. All three surveys were completed by 133 adults with a slight preponderance of males (51%). Median age was 31 years, 117 were born with ARM and 16 with HD. All subgroups had significantly lower BFS than healthy references. ARM patients scored significantly lower than the healthy reference population when assessed for GIQoL. All showed significant impairment with the mental component summary (MCS) of SF-36. Patients with a successful bowel management had significantly higher scores on all three questionnaires than those with fecal accidents. CONCLUSION: Our results emphasize the importance of a successful bowel management and its impact on the quality of life and bowel function. Long-term follow-up is recommended with attention to mental health.

Radiologically supervised bowel management program outcome in patients with chronic idiopathic constipation.

PURPOSE: This study aimed to analyze our radiologically supervised bowel management program (RS-BMP) outcomes in patients with chronic idiopathic constipation (CIC). METHODS: A retrospective study was conducted. We included all patients with CIC who participated in our RS-BMP at Children´s Hospital Colorado from July 2016 to October 2022. RESULTS: Eighty patients were included. The average time with constipation was 5.6 years. Before our RS-BMP, 95% had received non-radiologically supervised treatments, and 71% had attempted two or more treatments. Overall, 90% had tried Polyethylene Glycol and 43% Senna. Nine patients had a history of Botox injections. Five underwent anterograde continence procedure, and one a sigmoidectomy. Behavioral disorders (BD) were found in 23%. At the end of the RS-BMP, 96% of patients had successful outcomes, 73% were on Senna, and 27% were on enemas. Megarectum was detected in 93% of patients with successful outcomes and 100% with unsuccessful outcomes (p = 0.210). Of the patients with BD, 89% had successful outcomes, and 11% had unsuccessful. CONCLUSION: Our RS-BMP has been proven to be effective in treating CIC. The radiologically supervised use of Senna and enemas was the appropriate treatment in 96% of the patients. BD and megarectum were associated with unsuccessful outcomes.

Reproductive and Family Building Considerations for Female Patients with Anorectal And Urogenital Malformations.

BACKGROUND: Little is known about fertility and pregnancy outcomes in patients with anorectal malformations (ARM), particularly those with long common channel cloaca and cloacal exstrophy who may have impaired fertility. The purpose of this study is to describe pregnancy and offspring data from a cohort of patients with ARM. METHODS: A retrospective review of female patients with ARM from our database, which includes patients operated on since 1980, was performed as well as a review of the literature. Demographic, operative, and self-reported fertility, obstetric, and offspring data were collected. RESULTS: There were 37 females identified in our database who reported any pregnancy or having children. There were 59 pregnancies, 48 (81.3%) of which resulted in live birth. The most common mode of delivery was cesarean delivery. There were five patients with long channel cloaca (>3 cm) and one with cloacal exstrophy that reported 11 total pregnancies, eight of which resulted in live birth. Four cloaca patients in which the native vagina was pulled through were able to conceive spontaneously. Three patients with cloacal anomalies required in vitro fertilization to conceive; one was unsuccessful. No patients who underwent bowel partial vaginal replacement became pregnant. Women with ARM face many unique challenges in assisted reproduction, pregnancy, and delivery owing to their anatomy and associated anomalies. CONCLUSIONS: Women with recto-perineal, recto-vestibular, and cloacas in which the native vagina was pulled through are capable of spontaneous pregnancy. Assisted reproduction, however, may be needed those with more complex anomalies and surgical repairs. LEVEL OF EVIDENCE: IV.

Long-term outcomes of adult patients following surgery for congenital colorectal conditions: analysis of psychosocial functioning.

PURPOSE: This study aimed to obtain information about the psychosocial functioning of adults with various congenital colorectal conditions (e.g., anorectal malformation, Hirschsprung disease). METHODS: A research registry of adult patients with colorectal conditions was developed. Items included demographics, medical diagnosis/treatment, and measures of anxiety and depression. Descriptive and inferential statistical approaches were applied to summarize data and determine significant differences in the average scores for depression and anxiety between various groupings of diagnoses, gender, race, and the use of psychotropic medication. RESULTS: Study measures were completed by 131 adults. Depression and anxiety scores were significantly higher for women than men and those self-identified as non-binary (p = 0.012, < 0.001, respectively). No significant differences in depression and anxiety scores were found due to colorectal diagnosis (p > 0.05). Participants who identified as Asian had significantly higher depression scores than participants of other races (p = 0.002); but no significant difference was noted for anxiety scores (p = 0.065). CONCLUSIONS: Results suggest that depression and anxiety scores were significantly influenced by gender and race. However, colorectal diagnosis was not a predictor of depression or anxiety. It is important for colorectal providers to be aware of the psychosocial implications of congenital colorectal conditions and consider how to provide adequate support to address patients' psychosocial needs.

Stricture rate in patients after the repair of anorectal malformation following a standardized dilation protocol.

PURPOSE: The aim of this study was to determine and analyze the stricture rate in patients who underwent a PSARP or PSARVUP and followed a postoperative protocol of anal dilation (Fig. 1). METHODS: A retrospective review of patients with anorectal malformation (ARM) who underwent a primary PSARP or PSARVUP from February 2016 to October 2021 was performed. Data collected included patients' demographics, type of ARM, age at the time of operation, postoperative complications, with emphasis on whether there were any strictures or any difficulties during dilations, and on follow-up. During the surgical repair, emphasis was placed on preserving the blood supply of the bowel and performing a tension-free bowel-to-skin anastomosis. RESULTS: Eighty-four patients met the inclusion criteria. Forty-four patients were females: 21 recto-perineal fistula, 12 cloaca, 9 recto-vestibular fistula, one imperforate anus without fistula, and one patient had a complex anorectal and vaginal malformation with an anal stricture and a rectovaginal fistula. Forty patients were males: 14 recto-perineal fistula, 11 recto-urethral bulbar fistula, 6 recto-urethral prostatic fistula, 6 imperforate anus without fistula, and 2 bladder neck fistula. One patient had an anal stenosis with sacral agenesis, without a presacral mass. Patient ages ranged from 0 to 79 months (mean 7.5 months, median 5 months) at the time of surgery. Follow-up time ranged from 7 to 73 months (mean 38 months, median 35 months). No patient suffered of a postoperative anal stricture. Six patients suffered of a rectal prolapse that required a surgical repair. CONCLUSION: Post-operative anal stricture after PSARP and PSARVUP can be avoided with proper surgical technique and postoperative care. Namely, by preserving adequate blood supply of the bowel and avoiding tension at the anoplasty, and by adhering to a structured protocol of anal dilations.

Pelvic exams and cervical cancer screening in patients with anorectal malformations.

PURPOSE: Congenital or acquired anatomic differences of the genital tract in patients with anorectal malformations (ARM) may make pelvic exams more challenging. The purpose of this study was to describe office-based pelvic exams and cervical cancer screening among female patients with a history of ARM. METHODS: This was an IRB approved, cross-sectional study of female patients with ARM who completed our Reproductive Health Surveys from November 2021 to March 2022. RESULTS: Fifty-four patients with ARM were included in the study. Ages ranged from 22 to 80 years (mean age 34.5 years). Thirty-four patients had a cloaca, 16 had an ARM other than cloaca, and four patients had a complex malformation. Most patients (79.6%) reported having had a pelvic exam in the office. On a scale of 0-100, the mean pain score with pelvic exam was 42. Pain scores were higher for patients with complex malformations and neo-vagina. Forty-three participants (79.6%) had cervical cancer screening. Fifteen participants (28%) had a didelphys uterus but only two patients specified that both cervices were screened for cervical cancer. CONCLUSION: The majority of female patients with ARM had cervical cancer screening in clinic, those with complex malformations reported greater discomfort. Providers should be aware of barriers to performing pelvic exams in patients with ARM as well as the need to screen both cervices in didelphys uterus.

The success rate of antegrade enemas for the management of idiopathic constipation.

PURPOSE: Most patients with idiopathic constipation achieve daily voluntary bowel movements with stimulant laxatives after a "Structured Bowel Management Program" (BMP). A small percentage require rectal enemas. One week in a BMP to find the right enema recipe results in a success rate great than 95%. Once the enema is radiologically and clinically effective, antegrade continent enema procedures (ACE) can afford patients an alternative route of enema administration. This study summarized the outcomes of children with idiopathic constipation who receive antegrade enemas (AE) with or without a prior BMP. METHODS: This was a single institution, retrospective cohort study of children with idiopathic constipation who underwent ACE procedures indicated by different providers from 2015-2020. We categorized the outcomes with AE after the ACE procedure as: "successful outcome" when the AE produced a daily bowel movement, no involuntary bowel movements, and no more fecal impactions, "unsuccessful outcome" was defined when the patient continued having involuntary bowel movements or fecal impaction requiring cleanouts despite a daily AE, and "unnecessary outcome" was defined when the patient was no longer doing AE, but had daily bowel movements, and no involuntary bowel movements or fecal impactions. RESULTS: Thirty-eight children with idiopathic constipation had an ACE. The most frequent indication for ACE was a failure of medical treatment. The most common medical treatment was polyethylene glycol. Before ACE, 34 (89%) patients did not have a BMP; 18 patients were on rectal enemas and 16 on laxatives. All four with BMP (100%) had a successful rectal enema. After ACE, 12 (31%) patients had successful antegrade enemas, including the four with previous successful BMP with rectal enemas. Twenty patients (52%) had unsuccessful antegrade enemas, and in 6 (15%), the ACE was unnecessary (Fig. 1). CONCLUSION: Using antegrade enemas without a previously successful formula for rectal enemas has resulted in a high rate of unsuccessful and unnecessary procedures. BMP for children with idiopathic constipation who needs rectal enemas offers a high possibility to find the proper rectal enema recipe and ensures higher rates of successful AE.

The effect of an enhanced recovery protocol in pediatric patients who undergo colostomy closure and Malone procedures.

PURPOSE: Pediatric colorectal studies have shown enhanced recovery after surgery (ERAS) protocols can safely improve outcomes. This study sought to determine the impact of an ERAS pathway on the outcomes of children with colorectal conditions who underwent colostomy closure or Malone procedure. METHODS: A single-institution, retrospective cohort study of children who underwent colostomy closure or Malone procedure between 2016 and 2020 was performed. Differences in outcomes between pre-ERAS and ERAS cohorts were tested. A sub-analysis based on procedure type was performed. RESULTS: There were 96 patients included: 22 prior to ERAS implementation and 74 after. Patients who underwent ERAS had shorter mean time (hours) to oral intake, mean days until regular diet, post-operative opioid volume, and median length of stay (p < 0.05). There was no difference in complication rates in the ERAS and pre-ERAS cohort (12.2 vs 9.1%, p = 0.99). Patients who underwent colostomy closure after ERAS had lower post-operative opioid use, but no differences were seen in those who underwent Malone. CONCLUSION: Implementation of an ERAS protocol resulted in quicker time to oral intake, normal diet, and decreased opioid use without increasing complication rates. Differences seen based on procedure type may reflect that the effect of an ERAS protocol is procedure specific.

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.

Patient-reported urinary outcomes in adult males with congenital colorectal conditions.

PURPOSE: Long-term urinary outcomes for patients born with Hirschsprung disease (HD) and anorectal malformations (ARM) may impact their health and wellbeing into adulthood. This study describes self-reported long-term urinary outcomes in males with HD and ARM. METHODS: This was a prospective study of male patients in the Adult Colorectal Research Registry who completed surveys on urinary function between October 2019 and March 2022. Self-reported health and functional outcomes were summarized, and differences based on type of condition were compared. RESULTS: Sixty-seven patients completed the questionnaire (response rate: 59.1%), of which 17.9% (12) had HD and 82.1% (55) had an ARM. Rates of urinary incontinence and stress urinary incontinence were 16.4% (11) and 4.5% (3), respectively. On sub-analysis of patients with ARM, patients with sacral ratio (SR) of 0.4-0.69 reported higher UTI rates compared to those with SR ≥ 0.7 (57.9 vs 25.8%, p = 0.023). Renal failure rates were highest among patients with recto-bladder neck fistulas (66.0%, p = 0.012). CONCLUSION: Patients with HD and ARM report a variety of urological sequelae in adulthood. Outcomes appear to be more common in patients with ARM and may be impacted by both anatomy and sacral ratios. Transitional care to monitor and manage renal and urological function is imperative.

Transanal proximal rectosigmoidectomy. A new operation for severe chronic idiopathic constipation associated with megarectosigmoid.

BACKGROUND: At the severe end of the idiopathic constipation spectrum exist patients with chronic idiopathic constipation associated with an enormous megarectosigmoid, among whom few require surgery. We performed transanal proximal rectosigmoidectomy, involving preservation of a 5 cm rectal reservoir, to ameliorate inconsistent and unpredictable outcomes and fecal incontinence occurring in some patients operated on with other techniques. METHODS: We retrospectively observed patients with chronic idiopathic constipation with megarectosigmoid who underwent transanal proximal rectosigmoidectomy during July 2017-May 2018. We analyzed sex, age, operation indication, complications, functional outcome, and time of follow-up. We statistically compared the dosage of laxative before and after the procedure. RESULTS: Thirteen patients were included in the study. Median age during surgery was 8 years. In 9 cases, the indication for surgery was chronic intake of a daily high dose of Senna with failed weaning trials, and 4 had persistent fecal impaction with laxative-intolerance and refusal of rectal enemas. No intra/postoperative complications occurred. Currently, all 13 patients have daily voluntary bowel movements and no fecal accidents. Laxative dosage was significantly reduced (p = 0.007). Follow-up ranged 6-16 months. CONCLUSION: Preliminary results suggest transanal proximal rectosigmoidectomy as an adequate alternative for patients requiring surgery for chronic idiopathic constipation with megarectosigmoid. TYPE OF STUDY: Clinical research. LEVEL OF EVIDENCE: Level III.

Transanal endorectal approach for the treatment of idiopathic rectal prolapse in children: Experience with the modified Delorme's procedure.

BACKGROUND: Persistent or recurrent idiopathic rectal prolapse in children requires surgical intervention. Several techniques have been used to repair this problem. However, recurrence and complications continue to be a challenge in the management of this condition. Here we report our experience in using the modified Delorme's procedure to treat such patients. METHODS: We conducted a retrospective observational study of patients with idiopathic rectal prolapse who underwent the modified Delorme's procedure during 2013-2017. We analyzed the clinical characteristics of the patients and the recurrence and complication rates during a follow-up of 15-68 months. RESULTS: We included 14 patients. The age at operation ranged from 2 to 17 years, and the length of the prolapse was 3-15 cm. There were no intraoperative or postoperative complications. All patients achieved postoperative fecal control, and there were no recurrences. CONCLUSION: The modified Delorme's procedure was effective for the treatment of idiopathic rectal prolapse. There were no recurrences or complications. Because it is a perineal technique, the procedure avoids the risk of nerve injury that exists for transabdominal methods.

Non-classical karyotypic features in relapsed childhood B-cell precursor acute lymphoblastic leukemia.

Karyotype analysis of acute lymphoblastic leukemia (ALL) at diagnosis has provided valuable prognostic markers for treatment stratification. However, reports of cytogenetic studies of relapsed ALL samples are limited. We compared the karyotypes from 436 nonselected B-cell precursor ALL patients at initial diagnosis and of 76 patients at first relapse. We noticed a relative increase of karyotypes that did not fall into the classic ALL cytogenetic subgroups (high hyperdiploidy, t(12;21), t(9;22), 11q23, t(1;19), <45 chromosomes) in a group of 29 patients at relapse (38%) compared to 130 patients at presentation (30%). Non-classical cytogenetic aberrations in these 29 patients were mostly found on chromosomes 1, 2, 7, 9, 13, 14, and 17. We also describe six rare reciprocal translocations, three of which involved 14q32. The most frequent abnormalities were found in 9p (12/29 cases) and were associated with a marked decrease in the duration of the second remission, but not of the probability of 10-year event-free survival after relapse treatment. From 29 patients with non-classical cytogenetic aberrations, only 8 (28%) had been stratified to a high risk-arm on the first treatment protocol, suggesting that this subgroup might benefit from the identification of new prognostic markers in future studies.