Long-term outcomes in newborn surgery.

This article describes the common methods to study long-term outcomes in patients who have undergone major surgery in newborn period. It also sums up today's knowledge on the long-term outcome of some classic newborn surgical conditions. The analysis of long-term outcomes is important to pediatric surgeons. Knowledge of long-term outcome can guide the patient's management and principles of the follow-up throughout the patient's childhood. It also aims to give the parents of the patient a realistic picture on the development of their child. Recent data have shown that many patients who have undergone major surgery during early childhood have significant functional aberrations at adult age. Some of these have a profound influence on the quality of life of these patients.

Lessons learned from lower urinary tract complications of anorectoplasty for imperforate anus with rectourethral/rectovesical fistula: Laparoscopy-assisted versus posterior sagittal approaches.

PURPOSE: To report the sequelae of and preventive strategies for selected lower urinary tract (LUT) complications, i.e., posterior urethral diverticulum (PUD), intraoperative LUT injuries, postoperative dysuria, and fistula recurrence in male imperforate anus (IA) with rectourethral/rectovesical (RU/RV) fistula after laparoscopy-assisted anorectoplasty (LAARP) or posterior sagittal anorectoplasty (PSARP). METHODS: 153 boys with IA and RU/RV fistula treated 1986-2019 by LAARP (n = 56) or PSARP (n = 97) at two unrelated institutes were studied retrospectively. RESULTS: After mean follow-up of 17.0 years (range: 36.5 days-32.0 years), the overall incidences of LUT complications were: LAARP (6/56; 10.7%); PSARP (7/97; 7.2%); p = 0.55, comprising PUD: LAARP (n = 5), PSARP (n = 0); p = 0.006; injuries: LAARP (n = 0), PSARP (n = 5); p = 0.16; dysuria: LAARP (n = 1), PSARP (n = 1); p>0.999; and recurrence: LAARP (n = 0), PSARP (n = 1); p>0.999. Mean onset of PUD was 5.1 years (range: 1.0-15.1 years). TREATMENT: PUD: surgery (n = 2/5), conservative (n = 3/5); injuries: intraoperative repair (n = 5/5); dysuria: conservative (n = 2/2), and recurrence: redo PSARP (n = 1/1). CONCLUSIONS: Strategies devised to improve dissection accuracy resolved the specific technical issues causing LUT complications (remnant RU fistula dissection in LAARP and blind posterior access in PSARP). Currently, the incidence of new cases of PUD and LUT injuries is zero. LEVEL OF EVIDENCE: Level III.

Intra-articular venous malformation of the knee in children: magnetic resonance imaging findings and significance of synovial involvement.

BACKGROUND: Intra-articular venous malformations of the knee are an uncommon cause of unilateral knee pain in children. Timely diagnosis is important because lesions with intrasynovial involvement can lead to joint space hemorrhage and secondary cartilage damage. OBJECTIVE: To describe our tertiary center's experience of diagnostics and typical magnetic resonance imaging (MRI) findings. MATERIALS AND METHODS: A retrospective review of all patients ≤16 years of age managed for intra-articular venous malformations of the knee at our institution between 2002 and 2018. RESULTS: Of 14 patients (8 male), the mean age at presentation was 6 years (range: 0-14 years). The most common clinical findings were unilateral knee pain (93%), joint swelling (79%), quadriceps atrophy (50%) and a limited range of motion (29%). Cutaneous manifestations were present in four patients (29%). Contrast-enhanced MRI was available in all cases. After initial MRI, a vascular anomaly etiology had been identified in 11 cases (79%), and correctly reported as a venous malformation in 6 (55%). Three patients received entirely different diagnoses (arthritis, tumor or pigmented villonodular synovitis). Three of seven patients with intrasynovial lesions had established chondropathy at diagnosis. Two patients with lesions of the suprapatellar fat pad had intrasynovial involvement that was not visualised on MRI. CONCLUSION: Although MRI usually permits the diagnosis, clinical awareness of these lesions is important for optimal imaging, accurate interpretation and timely diagnosis. Involvement of the intrasynovial cavity carries a risk of hemarthrosis and progressive chondropathy that may be underestimated by MRI.

Long-term Single-centre Outcomes After Proctocolectomy With Ileoanal Anastomosis for Paediatric Ulcerative Colitis.

BACKGROUND AND AIMS: Childhood-onset ulcerative colitis [UC] requires total colectomy in one-quarter of patients at some point of their disease. The study objective was to evaluate long-term outcomes after proctocolectomy with ileoanal anastomosis [IAA] for paediatric UC. METHODS: Medical records of all children undergoing proctocolectomy with IAA for UC during 1985-2016 in Helsinki University Hospital were retrospectively assessed. Data on disease history, diagnostic and operative details, occurrence of surgical complications, functional outcome, postoperative diagnosis of Crohn's disease [CD] and pouch failure were collected. Risk factors for IAA failure were analysed with Cox regression. RESULTS: Of 87 patients, 85 [98%] had UC and 2 [2%] inflammatory bowel disease unclassified [IBD-U] preoperatively. Altogether 66% underwent two-stage and 34% underwent three-stage procedures. During 7.8 [4.1-14.5] years' follow-up, nine [10%] patients were diagnosed with postoperative CD. Postoperative leakages [n = 8, 9%] and strictures [n = 10, 11%] were equally common, whereas fistulas [78% vs 9%, p <0.001] and abscesses [56% vs 14%, p = 0.009] were more frequent among patients with later CD diagnosis. At latest follow-up, eight [9%] patients had been converted to a permanent ileostomy and others reported daytime stooling frequency of 5 [4-7] and 0.5 [0-1] at night. CD diagnosis (hazard ratio [HR] = 23.3, p = 0.005), postoperative abscesses [HR = 16.3, p = 0.013] and fistulas [HR = 20.9, p = 0.007] as well as three-stage surgery [p = 0.018] increased risk for ileostomy. CONCLUSIONS: For paediatric UC, long-term surgical and functional outcomes after proctocolectomy with IAA are reassuring. Need for three-stage surgery and occurrence of postoperative fistulas and abscesses, but not leakages or strictures, associate with postoperative CD diagnosis and the risk for ileostomy.

Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant.

The pathogenesis of Hirschsprung disease is complex. Although the RET proto-oncogene is the most frequently affected gene in Hirschsprung disease, rare coding sequence variants explain only a small part of Hirschsprung disease cases. We aimed to assess the genetic background of Hirschsprung disease using a genome-wide association analysis combined with sequencing all RET exons in samples from 105 Hirschsprung disease cases (30 familial and 75 sporadic) and 386 controls. As expected, variants in or near RET showed the strongest overall association with Hirschsprung disease and the most statistically significant association was observed when using a recessive genetic model (rs2435357, NC_000010.10:g.43582056T > C; genotype TT, OR = 17.31, P = 1.462 × 10-21). Previously published associations in variants in SEMA (rs11766001, NC_000007.13:g.84145202A > C; allele C, OR = 2.268, P = 0.009533) and NRG1 (rs4541858, NC_000008.10:g.32410309A > G; allele G, OR = 1.567, P = 0.015; rs7835688, NC_000008.10:g.32411499G > C; allele C, OR = 1.567, P = 0.015) were also replicated in the genome-wide association analysis. Sequencing revealed a total of 12 exonic RET rare variants. Of these, eight amino acid changing rare variants and two frameshift variants caused or possibly caused Hirschsprung disease. Only a minority of the Hirschsprung disease cases (9/30 familial; 7/75 sporadic) carried one of the rare variants. Excluding the rare variant carriers from the genome-wide association analysis did not appreciably change the association of rs2435357 with Hirschsprung disease. We estimate that approximately two thirds of the sporadic cases may be statistically attributed to the recessive action of the common non-coding RET variants. Thus, even though most cases do not carry rare RET variants, combinations of rare variants and the common non-coding RET variant cause the majority of the cases in our population.

Combined management of perianal rhabdomyosarcoma with chemotherapy, radical surgery, and irradiation: A series of three consecutive children.

BACKGROUND AND AIM: We describe a series of three successive patients with perianal rhabdomyosarcoma (PRMS) from 2014 to 2017 managed with combined chemotherapy, radical surgery, and radiotherapy. METHODS: Ethical consent was obtained. Data including tumor presentation, treatment, and survival was collected from hospital reports. RESULTS: Two girls aged 15 and 16 years (patient #1 and #2) and one boy aged five years (patient #3) were referred because of a suspected perianal abscess. MRI showed large perianal tumors from 7 to 12 cm in diameter that surrounded or infiltrated the anal sphincters and were inconsistent with abscess. Tumor biopsies showed RMS of alveolar (#1 and #2) and embryonal (#3) types. Patient #1 had lymph node and bone metastases, patient #2 lymph node metastases, and patient #3 no metastases. Pretreatment staging, IRS Clinical Group, and Risk Groups were: Stage 4, II, high; Stage 3, GII, intermediate; and Stage 3, I, low, respectively. All underwent colostomy before neoadjuvant chemotherapy (CWS-RMS 2009 program). Neoadjuvant chemotherapy failed to clear the tumors from anal sphincters preventing anus-saving surgery, and all patients underwent abdominoperineal excision. All removed specimens had free margins with negative lymph nodes. After adjuvant chemotherapy and local radiation, the patients were tumor free after 48, 13, and 18 months. CONCLUSION: In PRMS local surgical control required abdominoperineal excision. Confusion between PRMS and abscess may cause unnecessary delay in management. LEVEL OF EVIDENCE: IV (Treatment Study, Case Series with no Comparison Group).

Congenital diaphragmatic hernia: a scientometric analysis of the global research activity and collaborative networks.

Despite a growing interest to clinicians and scientists, there is no comprehensive study that examines the global research activity on congenital diaphragmatic hernia (CDH). A search strategy for the Web of Science™ database was designed to identify scientific CDH publications. Research output of countries, institutions, individual authors, and collaborative networks was analyzed. Semi-qualitative research measures including citation rate and h-index were assessed. Choropleth mapping and network diagrams were employed to visualize results. A total of 3669 publications were found, originating from 76 countries. The largest number was published by the USA (n = 1250), the UK (n = 279), and Canada (n = 215). The USA combined the highest number of cooperation articles (n = 152), followed by Belgium (n = 115) and the Netherlands (n = 93). The most productive collaborative networks were established between UK/Belgium (n = 53), Belgium/Spain (n = 47), and UK/Spain (n = 34). Canadian publications received the highest average citation rate (22.8), whereas the USA had the highest country-specific h-index (72). Eighty-five (2.3%) articles were published by international multicenter consortiums and national research networks. The most productive institutions and authors were based in North America and Europe. Over the past decades, CDH research has increasingly become multidisciplinary and numerous innovative therapeutic strategies were introduced. CDH-related research has constantly been progressing, involving today many disciplines with main research endeavors concentrating in a few high-income countries. Recent advances in prenatal interventions and regenerative medicine therapy hold the promise of improving CDH outcome in the 21st century. International collaborations and translational research should be strengthened to allow further evolution in this field.

Social Morbidity in Relation to Bowel Functional Outcomes and Quality of Life in Anorectal Malformations and Hirschsprung's Disease.

BACKGROUND: Anorectal malformations (ARMs) and Hirschsprung's disease (HD) are chronic bowel conditions associated with varying degrees of fecal incontinence. We aimed to discuss the contemporary status of social morbidity associated with ARMs and HD in the long term after contemporary treatments. MATERIALS AND METHODS: The bowel functional outcomes of our recent institutional series up to adulthood were reviewed and compared for ARMs and HD. The Rintala score was used to evaluate bowel function, which includes an assessment of the social effects of the condition. In this study, the social outcomes in our population of patients with ARMs and HD were specifically analyzed in relation to the surveyed functional outcomes, our previously collected data on quality of life (QoL) and the current literature. RESULTS: Mild ARMs were associated with a minimal risk of social morbidity consistent with good outcomes. In severe ARMs and HD, social problems were reported steadily among all age groups studied. Impairment of domains of fecal control were present among 53 to 89% of patients with social problems, including frequent symptoms (>1/week) in up to 39%. Involuntary gas leakage contributed to social morbidity in 15 to 27%. Comparison with QoL data suggested that social morbidity experienced during childhood may continue to affect emotional domains of QoL in later life, despite improvements in bowel function by adulthood. CONCLUSION: Patients with severe ARMs and HD are at risk of social restrictions from impairment of bowel function despite contemporary surgical treatments. However, the QoL outcomes in adulthood may be more influenced by self-perceptions of illness formed from childhood than disease-specific factors. Strategies to reduce the psychological morbidity associated with these conditions that includes parental involvement from the outset may improve outcomes.

Outcomes of fundoplication in oesophageal atresia associated gastrooesophageal reflux disease.

AIM OF THE STUDY: Conservative management of gastrooesophageal reflux (GORD) in oesophageal atresia (OA) is sometimes inefficient, and fundoplication is required. We assessed the outcomes of fundoplication among OA patients from 1980 to 2016. METHODS: After ethical consent, hospital records of 290 patients, including 22 referred patients, were reviewed. Included were 262 patients with end-to-end repair. Excluded were patients who underwent oesophageal reconstruction (n=23) or no repair (n=5). Primary outcome measures included survival, retaining the native oesophagus, resolution of GGORD symptoms, failure of fundoplication, and long-term endoscopic results. MAIN RESULTS: Gross types of OA in 262 patients were A (n=12), B (n=2), C (n=217), D (n=10), E (n=19), and F (n=2). Eighty-six (33%) patients, type A (n=12, 100%), B (n=2, 100%), C (n=69, 31%), D (n=3, 30%), and F (n=1, 50%), underwent fundoplication at the median age of 5.4 (IQR 3.1-16) months. Main indications included recalcitrant anastomotic stenosis (RAS) in 41 (48%), respiratory symptoms in 16 (19%), and acute life threatening events (ALTE) in 15 (17%) of patients. Associated tracheomalacia in 25 (29%) patients were treated with aortopexy. Median follow-up was 7.5 (IQR 1.8-15) years. RAS resolved in 30 (73%) patients, whereas 11 (27%) with unresolved RAS underwent oesophageal resection (n=8) or replacement (n=3). Six (7%) patients died of heart failure (n=4), bolus impaction (n=1), and ALTE (n=1). Fundoplication failed in 27 (31%) patients, and 13 (15%) underwent redo fundoplication. Fundoplication failure was predicted by long-gap OA RR=3.8 (95%CI=1.1-13), P=0.04. In total GORD associated symptoms persisted in 7 (8%) patients, including one with permanent feeding jejunostomy. Latest endoscopy showed moderate or severe oesophagitis in 7% of fundoplicated and in 3% nonfundoplicated patients and intestinal metaplasia in 3% and 1% (p=0.20-0.29). CONCLUSION: Fundoplication provided a safe and relatively effective control of OA associated symptomatic GORD and oesophagitis. The failure rate of fundoplication was high in those with long-gap OA. TYPE OF STUDY: Treatment study. LEVEL OF EVIDENCE: IV.

Long-term bowel function, quality of life and sexual function in patients with anorectal malformations treated during the PSARP era.

Anorectal malformations are an important group of congenital anomalies that vary widely in their anatomical characteristics and complexity. Understanding the long-term functional outcomes after modern treatments, and how these compare to the general population, are essential for ensuring that patients receive optimal, evidence-based care. With increasing appreciation of the wider impact of the illness on patients and their families, minimizing social disability from fecal incontinence and enabling normal social integration from the outset are key management concerns. This review summarizes the current knowledge on the functional outcomes by type of malformation, reflecting on the literature, and our institutional experience over a follow-up period of nearly 30 years.

Long-term outcomes of oesophageal atresia without or with proximal tracheooesophageal fistula - Gross types A and B.

PURPOSE: Because of an extended gap between esophageal pouches a variety of methods are employed to treat oesophageal atresia (OA) without (type A) or with (type B) proximal tracheooesophageal fistula. This retrospective observational study describes their single centre long-term outcomes from 1947 to 2014. METHODS: Of 693 patients treated for OA 68 (9.7%) had type A (n=58, 8.3%) or B (n=10, 1.4%). Hospital records were reviewed. Main outcome measures were survival and oral intake. RESULTS: Nine (13%) patients had early and 10 (15%) delayed primary anastomosis, 30 (44%) underwent reconstruction including colonic interposition (n=13), reversed gastric tube (n=11) and jejunum interposition (n=6), whereas19 (28%) had died without a definite repair. Median follow up was 35 (interquartile range, 7.4-40) years. Thirty-one (63%) of 49 patients with definitive repair survived long term. Survival was 22% for early and 80% for delayed primary anastomosis, 57% for colon interposition, 82% for gastric tube and 84% for jejunum interposition. Gastrooesophageal reflux was most common after gastric tube (80%), dysphagia after colon interposition (50%), and 3 (60%) of 5 survivors with jejunum interposition had permanent feeding ostomy because of neurological disorder. Endoscopic follow-up disclosed no oesophageal cancer or dysplasia. Repair in the most recent patients from 1985 to 2014 (n=14) included delayed primary anastomosis (n=7), jejunum interposition (n=6) and gastric tube (n=1) with 93% long-term survival. CONCLUSION: Morbidity among long-term survivors of type A or B OA is high. With modern management survival is, however, excellent and patients without neurological disorder achieve full oral intake either after primary anastomosis or reconstruction. LEVELS OF EVIDENCE: IV.

Fundoplication in Patients with Esophageal Atresia: Patient Selection, Indications, and Outcomes.

Patients with esophageal atresia (EA) suffer from abnormal and permanent esophageal intrinsic and extrinsic innervation that affects severely esophageal motility. The repair of EA also results in esophageal shortening that affects distal esophageal sphincter mechanism. Consequently, gastroesophageal reflux (GER) is common in these patients, overall approximately half of them suffer from symptomatic reflux. GER in EA patients often resists medical therapy and anti-reflux surgery in the form of fundoplication is required. In patients with pure and long gap EA, the barrier mechanisms against reflux are even more damaged, therefore, most of these patients undergo fundoplication during first year of life. Other indications for anti-reflux surgery include recalcitrant anastomotic stenoses and apparent life-threatening episodes. In short term, fundoplication alleviates symptoms in most patients but recurrences are common occurring in at least one third of the patients. Patients with fundoplication wrap failure often require redo surgery, which may be complicated and associated with significant morbidity. A safe option in a subset of patients with failed anti-reflux surgery appears to be long-term medical treatment with proton pump inhibitors.

Lower urinary tract symptoms and sexual functions after endorectal pull-through for Hirschsprung disease: controlled long-term outcomes.

BACKGROUND/PURPOSE: To define the prevalence of lower urinary tract symptoms (LUTS) and outcomes for sexual function after endorectal pull-through (EPT) for Hirschsprung disease (HD) compared to controls. To date, similar controlled studies are lacking. METHODS: Patients aged ≥4years (n=123) operated on for HD at our center between 1987 and 2011 were invited to answer questionnaires on LUTS and sexual function (aged ≥16years). Patients with an intellectual disability and patients with a definitive endostomy were excluded. Patients were matched to three controls and also invited to a clinical follow-up for urological investigations including urine flow measurement, renal tract ultrasound, and urinalysis. RESULTS: Altogether, 59 responses concerning LUTS and 24 responses concerning sexual functions were analyzed. No significant differences were demonstrated in the overall prevalence of LUTS between patients (67%) and controls (80%), nor in the prevalence of frequent LUTS (14% vs. 16%; P=NS for both). One patient (2%) had a urethral stricture after laparotomy-assisted EPT. Male patients reported sexual satisfaction and erectile function similar to controls (P>0.10). Female patients were currently less in stable relationships compared to controls (25% vs. 83%, P=0.005). CONCLUSIONS: Our results support the safety of EPT in patients with HD with regard to preservation of the integrity and functioning of the genitourinary tract.

Bowel Function and Quality of Life After Transanal Endorectal Pull-through for Hirschsprung Disease: Controlled Outcomes up to Adulthood.

OBJECTIVE: The aim of this study was to define controlled outcomes up to adulthood for bowel function and quality of life (QoL) after transanal endorectal pull-through (TEPT) for Hirschsprung disease (HD). SUMMARY OF BACKGROUND DATA: Although TEPT is the surgical standard for HD, controlled long-term follow-up studies evaluating bowel function and QoL are lacking. METHODS: Patients aged ≥4 years operated for HD with TEPT between 1987 and 2011 answered detailed questionnaires on bowel function and QoL [Pediatric Quality of Life Inventory (PedsQL, age <18 yrs) or Gastrointestinal Quality of Life Index (GIQLI) and SF-36]. Patients were compared with 3 age- and gender-matched controls each randomly selected from the general population. RESULTS: Seventy-nine patients (64%) responded (median age 15, range 4-32 years; 86% rectosigmoid aganglionosis). Compared with controls, patients reported impairment of all aspects of fecal control (P < 0.05), except constipation. In cross-section, 75% of patients were socially continent (vs 98% of controls; P < 0.001). Soiling, fecal accidents, rectal sensation, and ability to withhold defecation improved with age to levels comparable to controls by adulthood (P = NS), but stooling frequency remained higher in 44% of patients (P < 0.05 vs controls). PedsQL domains in childhood were equal to controls (P = NS), except for proxy-reports of sadness/depression. Adults exhibited lower emotional scores, limitation of personal, and sexual relationships (P < 0.05). CONCLUSION: Compared with matched peers, significant impairment of fecal control prevails after TEPT in HD patients during childhood, but symptoms diminish with age. Although overall QoL appeared comparable to controls, impairment of emotional and sexual domains may prevail in adulthood.

A Nordic multicenter survey of long-term bowel function after transanal endorectal pull-through in 200 patients with rectosigmoid Hirschsprung disease.

OBJECTIVE: Transanal endorectal pull-through (ERPT) is the most popular technique to treat Hirschsprung disease (HD). Still, there is limited knowledge on long-term bowel function. This cross-sectional, multicenter study assessed long-term bowel function in a large HD population and examined predictors of poor outcome. METHODS: Patients older than four years or their parents filled out a validated questionnaire on bowel function. Clinical details were recorded retrospectively from medical records. RESULTS: 73/200 (37%) patients reported absolutely no impaired bowel function, meaning no constipation, fecal accidents, stoma, appendicostomy or need for enemas. Seven (4%) had a stoma, and 33 (17%) used antegrade or rectal colonic enemas. Most disarrangements of fecal control and constipation were significantly less common in older age group, but abnormal defecation frequency and social problems remained unchanged. Syndromic patients (n=31) experienced frequent fecal accidents (46%) more often than nonsyndromic (14%, P<0.001). Having a syndrome (adjusted OR 5.6, 95% CI 2.1-15, P=0.001) or a complete transanal ERPT (adjusted OR 2.4, 95% CI 1.1-5.7, P=0.038) was significantly associated with poor outcome defined as having a stoma, an appendicostomy, daily fecal accidents or need of regular rectal wash outs. CONCLUSION: A significant number of HD patients experience bowel problems many years after definite surgery. Fecal control was significantly better in older than younger HD patients, but some continued to have considerable bowel problems also as adults. A total transanal ERPT was associated with poorer outcome. Long-term follow-up of HD patients is warranted. Prognosis Study: Level II.

Manometric findings in relation to functional outcomes in different types of anorectal malformations.

AIMS: To compare anorectal manometry (AM) in patients with different types of anorectal malformations (ARMs) in relation to functional outcomes. METHODS: A single-institution, cross-sectional study. After ethical approval, all patients ≥7years old treated for anterior anus (AA), perineal fistula (PF), vestibular fistula (VF), or rectourethral fistula (RUF) from 1983 onwards were invited to answer the Rintala bowel function score (BFS) questionnaire and to attend anorectal manometry (AM). Patients with mild ARMs (AA females and PF males) had been treated with minimally invasive perineal procedures. Females with VF/PF and males with RUF had undergone internal-sphincter saving sagittal repairs. RESULTS: 55 of 132 respondents (42%; median age 12 (7-29) years; 42% male) underwent AM. Patients with mild ARMs displayed good anorectal function after minimally invasive treatments. The median anal resting and squeeze pressures among patients with mild ARMs (60 cm H2O and 116 cm H2O respectively) were significantly higher than among patients with more severe ARMs (50 cm H2O, and 80cm H2O respectively; p≤0.002). The rectoanal inhibitory reflex was preserved in 100% of mild ARMs and 83% of patients with more severe malformations after IAS-saving sagittal repair. The functional outcome was poor in 4/5 patients with an absent RAIR (BFS≤11 or antegrade continence enema-dependence). Rectal sensation correlated significantly with the BFS. CONCLUSIONS: Our findings support the appropriateness of our minimally invasive approaches to the management of mild ARMs, and IAS-saving anatomical repairs for patients with more severe malformations. LEVEL OF EVIDENCE: III.

Sexual Function, Fertility and Quality of Life after Modern Treatment of Anorectal Malformations.

PURPOSE: Sexual dysfunction and impaired quality of life due to fecal incontinence are common after classic operations for anorectal malformations. We hypothesized that modern repairs may result in improved outcomes. MATERIALS AND METHODS: Following ethical approval for this single institution cross-sectional study, all patients 16 years or older treated for rectourethral, vestibular or perineal fistula from 1983 onward were sent detailed postal questionnaires on sexual function and quality of life. Each respondent was age and gender matched to 3 controls randomly selected from the general population. Penoscrotal/gynecologic abnormalities were obtained from the records. RESULTS: A total of 41 patients (62%) with a median age of 22 years participated in the study. Of the patients 20 were males with rectourethral fistula (prostatic in 60%), 10 were females with vestibular/perineal fistula and 11 were males with low malformations. Although experience of sexual relationships and orgasmic function were reported in comparable proportions to controls, age at coital debut was significantly delayed in all groups of patients (p ≤0.046). Erectile function was preserved after sagittal repair but absent ejaculations or azoospermia affected 3 males with rectourethral fistula (15%). Penoscrotal/gynecologic abnormalities affected 12% of patients. Overall quality of life scores were comparable to controls but a trend was found for lower scores on emotional items in males with rectourethral fistula (p = 0.06) and for a negative effect on sexual life in females (p = 0.03). CONCLUSIONS: While erectile and orgasmic function appear preserved after sagittal repair, further evaluation of fertility issues in males with rectourethral fistula is indicated. Larger multicenter studies are needed to confirm our findings.

Spinal cord anomalies in patients with anorectal malformations without severe sacral abnormalities or meningomyelocele: outcomes after expectant, conservative management.

OBJECTIVE The goal of this study was to determine the significance of spinal cord anomalies (SCAs) in patients with anorectal malformations (ARMs) by comparing the outcomes for bowel function, lower urinary tract symptoms (LUTS), and lower-limb neurological abnormalities to these outcomes in patients with similar ARMs and a normal spinal cord. METHODS The spinal cord MRI records of female patients treated for vestibular and perineal fistula (VF/PF) and male patients with rectourethral fistula (RUF) at a single center between 1983 and 2006 were reviewed. Bowel function and LUTS were assessed by questionnaire. Patients with extensive sacral anomalies or meningomyelocele were excluded. RESULTS Of 89 patients (median age 15 years, range 5-29 years), MRI was available in 90% (n = 80; 40 male patients with RUF), and 80% of patients returned the questionnaire (n = 64; 31 male patients with RUF). Spinal cord anomalies were found in 34%, comprising a filum terminale lipoma in 30%, low conus medullaris in 10%, and thoracolumbar syrinx in 6%. Bowel functional outcomes between patients with SCAs (n = 23) and those with a normal spinal cord (n = 41) were not significantly different for soiling (70% vs 63%), fecal accidents (43% vs 34%), and constipation (57% vs 39%; p = not significant for all). The LUTS, including urge (65% vs 54%), urge incontinence (39% vs 24%), stress incontinence (17% vs 22%), and straining (32% vs 29%) were also comparable between groups (p = not significant for all). No patients developed lower-limb neurological abnormalities. CONCLUSIONS The results suggest that the long-term functional outcomes for patients with SCAs who had VF/PF and RUF may not differ significantly from patients with the same type of ARMs and a normal spinal cord. The results favor a conservative approach to their management in the absence of abnormal neurological findings in the lower limbs.

Congenital cloaca: Long-term follow-up results with emphasis on outcomes beyond childhood.

Persistent cloaca remains a challenge for pediatric surgeons and urologists. Reconstructive surgery of cloacal malformations aims to repair the anorectum, urinary tract, and genital organs, and achieve fecal and urinary continence as well as functional genital tract capable for sexual activity and pregnancy. Unfortunately, even in most experienced hands these goals are not always accomplished. The endpoint of the functional development of bowel, urinary, and genital functions is the completion of patient's growth and sexual maturity. It is unlikely that there will be any significant functional improvement beyond these time points. About half of the patients with cloaca attain fecal and urinary continence after their growth period. The remaining half stay clean or dry by adjunctive measures such as bowel management by enemas or ACE channel, and continent urinary diversion or intermittent catheterization. Problems related to genital organs such as obstructed menstruations, amenorrhea, and introitus stenosis are common and often require secondary surgery. Encouragingly, most adolescent and adult patients are capable of sexual life despite often complex vaginal primary and secondary reconstructions. Also, cloacal malformation does not preclude pregnancies, although they still are quite rare. Pregnant patients with cloaca require special care and follow-up to guarantee uncomplicated pregnancy and preservation of anorectal and urinary functions. Cesarean section is recommended for cloaca patients. The self-reported quality of life of cloaca patients appears to be comparable to that of female patients with less complex anorectal malformations.