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. (C) 2016 Elsevier Inc. All rights reserved.Peer reviewe

Comparison of digestate liquid treatment technologies: mass and nitrogen balances

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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 >= 7 years 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 80 cm H2O respectively; p 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. (C) 2017 Elsevier Inc. All rights reserved.Peer reviewe

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 freemargins 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. (C) 2018 Elsevier Inc. All rights reserved.Peer reviewe

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 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.Peer reviewe

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 (C) 2017 Elsevier Inc. All rights reserved.Peer reviewe

A systematic comparison of data- and knowledge-driven approaches to disease subtype discovery

bbab314Typical clustering analysis for large-scale genomics data combines two unsupervised learning techniques: dimensionality reduction and clustering (DR-CL) methods. It has been demonstrated that transforming gene expression to pathway-level information can improve the robustness and interpretability of disease grouping results. This approach, referred to as biological knowledge-driven clustering (BK-CL) approach, is often neglected, due to a lack of tools enabling systematic comparisons with more established DR-based methods. Moreover, classic clustering metrics based on group separability tend to favor the DR-CL paradigm, which may increase the risk of identifying less actionable disease subtypes that have ambiguous biological and clinical explanations. Hence, there is a need for developing metrics that assess biological and clinical relevance. To facilitate the systematic analysis of BK-CL methods, we propose a computational protocol for quantitative analysis of clustering results derived from both DR-CL and BK-CL methods. Moreover, we propose a new BK-CL method that combines prior knowledge of disease relevant genes, network diffusion algorithms and gene set enrichment analysis to generate robust pathway-level information. Benchmarking studies were conducted to compare the grouping results from different DR-CL and BK-CL approaches with respect to standard clustering evaluation metrics, concordance with known subtypes, association with clinical outcomes and disease modules in co-expression networks of genes. No single approach dominated every metric, showing the importance multi-objective evaluation in clustering analysis. However, we demonstrated that, on gene expression data sets derived from TCGA samples, the BK-CL approach can find groupings that provide significant prognostic value in both breast and prostate cancers.Peer reviewe

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 = 4 years (n= 123) operated on forHDat our center between 1987 and 2011were invited to answer questionnaires on LUTS and sexual function (aged = 16 years). 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 N 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 patientswith HDwith regard to preservation of the integrity and functioning of the genitourinary tract. (C) 2017 Elsevier Inc. All rights reserved.Peer reviewe

Prognostic utility of human complement factor H related protein test (the BTA stat® Test)

The purpose of the study was to determine, in addition to well-known prognostic factors, histological grade, stage, tumour size and multiplicity, the correlation of BTA stat Test on disease free interval (DFI) on primary superficial bladder cancer. A total of 116 patients with newly diagnosed bladder cancer were evaluated in a prospective multicentre study. A voided urine sample was obtained prior to TURB and split for culture, cytology and BTA stat testing. Follow-up data for the patients were collected until the first recurrence or the last visit and the DFI was analysed by Kaplan–Meier method and Cox analysis. Ninety-seven of the 116 (83.6%) patients were eligible for analysis. The BTA stat Test was positive in 73 (75.3%) patients, whereas cytology detected 20 (20.6%) cases. The DFI was found to be shorter among patients with a positive BTA stat Test, and also among those with intermediate or high-grade tumours. The BTA stat Test result divided patients with grade 2 tumours into two prognostic groups, in that those testing positive had 68.6% risk of recurrence during the first year compared to 42.9% risk of those with a negative test result (P = 0.041). Although the effect of tumour size on DFI was notable, the difference did not reach statistical significance (P = 0.064). Number of tumours was not related to DFI, nor was the difference between different stage of tumour of significance. BTA stat Test is not only sensitive in detection of primary bladder cancer, but also might have some independent prognostic significance. © 2001 Cancer Research Campaign http://www.bjcancer.co