Urinary and Fecal Incontinence During Sexual Activity Is Common and Bothersome Among Adults With Spina Bifida.

OBJECTIVE: To evaluate the prevalence of and risk factors for urinary fecal incontinence (UI, FI) during sexual activity (UIS, FIS) among adults with spina bifida (SB). METHODS: An international online survey of adults with SB was administered through SB clinics and SB organizations via social media. Adults with a history of masturbation or partnered sexual activity were included. The primary outcome was ever experiencing UIS/FIS. Nonparametric tests and logistic regression were used for analysis. RESULTS: A total of 341 adults met inclusion criteria (median age: 36years, 59% female, 52% shunted, 48% community ambulators). Baseline UI in the last 4weeks was reported by 50% and FI by 41%. Nineteen (5%) had a urostomy. Eight (2%) had a colostomy. Overall, 93% had a history of partnered genital contact. Among adults without a diversion, UIS was more common than FIS (70% vs 45%, P < .001). Among adults without a urostomy, UIS was more common among women (76% vs 62%, P = .01) and those with baseline UI (84% vs 50%, P < .001). UIS was not associated with age, shunt, ambulatory, or catheterization status (P >=.32). On bivariate analysis, female sex and baseline UI were independent predictors of UIS (P <=.001). Among adults without a colostomy, FIS was associated with female sex (50% vs 39%, P = .046), baseline FI (59% vs 32%, P < .001), community ambulation (52% vs 40%, P = .04), but not age, shunt, or MACE status (P >=.27). On multivariate analysis, baseline FI was independently associated with FIS (P < .001). Among adults with UIS/FIS, 29% experienced UIS "almost always" to "always," compared to 5% for FIS (P < .001). Virtually all adults found UIS/FIS bothersome (>=96% for each), even when incontinence occurred "almost never." UIS/FIS mostly occurred before and/or during orgasm than afterward (P < .001). UIS was reported by 53% of adults with a urostomy (100% bothersome). FIS was reported by 38% of adults with a colostomy (100% bothersome). CONCLUSION: Incontinence during sexual activity is a common problem for men and women with SB. Baseline incontinence is an independent, but not absolute, predictor of both. While FIS is less frequent than UIS, both are virtually always bothersome.

Determination of tissue tracer transit of Technetium-99m-mercaptoacetyltriglycine diuretic renography in infants with suspected ureteropelvic junction obstruction - A multicenter prospective observational study.

INTRODUCTION: There is an ongoing controversy regarding management of ureteropelvic junction obstruction in infants, with a shift towards a non-operative approach. However, precise predictors of outcome are lacking. Recent studies postulated a high prognostic value of Technetium-99m-mercaptoacetyltriglycine tissue tracer transit with regard to the development of an impaired differential renal function and its potential improvement following pyeloplasty. OBJECTIVE: To evaluate the prognostic value of Technetium-99m-mercaptoacetyltriglycine tissue tracer transit for the occurrence of changes in differential renal function in infants with suspected unilateral ureteropelvic junction obstruction in a prospective observational multicenter study. STUDY DESIGN: Infants below 3 months of age with a unilateral isolated hydronephrosis ≥ grade 3 received ultrasound and Technetium-99m-mercaptoacetyltriglycine diuretic renography at two different time points (timepoint 1 and timepoint 2). Data were analyzed at local centers and at the study center and were collected in an internet-based database system. Tissue tracer transit was determined for each diuretic renography, inter-observer variation for tissue tracer transit and standard parameters for judgement of differential renal function development were assessed. RESULTS: Thirty-seven patients were analyzed. Median age was 11 weeks (7-15) at timepoint 1 and 26 weeks (19-33) at timepoint 2. A delayed tissue tracer transit at timepoint 1 was not associated with deterioration of differential renal function at timepoint 2 in both, locally (10/37 cases) and centrally (4/37) analyzed cases. However, sensitivity and specificity were poor. The intraclass correlation coefficient comparing local and central findings of tissue tracer transit and renal drainage demonstrated poor or fair agreement. Analysis of standard parameters for differential renal function development revealed a prognostic value only for the dichotomized anteroposterior renal pelvic diameter (APD, p = 0.03, 95%-CI 1.2-22.2). DISCUSSION: Regarding the primary endpoint of our study, we could not confirm the hypothesis that delayed tissue tracer transit reliably predicts a subsequent decline in differential renal function in the cohort of patients studied. Whether the low age of the patients, technical problems in the correct assessment of tissue tracer transit by the investigator in early infancy, the study design, or the parameter itself played a role is debated. CONCLUSION: In the presented setting tissue tracer transit was not useful as a predictive parameter for deterioration of differential renal function in infants with suspected unilateral ureteropelvic junction obstruction. Sensitivity and specificity of tissue tracer transit were not sufficient for risk stratification. Improved utility of tissue tracer transit as a marker might be achieved using a different study setting.

Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.

BACKGROUND: The bladder exstrophy-epispadias complex (BEEC) is a spectrum of congenital abnormalities that involves the abdominal wall, the bony pelvis, the urinary tract, the external genitalia, and, in severe cases, the gastrointestinal tract as well. METHODS: Herein, we performed an exome analysis of case-parent trios with cloacal exstrophy (CE), the most severe form of the BEEC. Furthermore, we surveyed the exome of a sib-pair presenting with classic bladder exstrophy (CBE) and epispadias (E) only. Moreover, we performed large-scale re-sequencing of CBE individuals for novel candidate genes that were derived from the current exome analysis, as well as for previously reported candidate genes within the CBE phenocritical region, 22q11.2. RESULTS: The exome survey in the CE case-parent trios identified two candidate genes harboring de novo variants (NR1H2, GKAP1), four candidate genes with autosomal-recessive biallelic variants (AKR1B10, CLSTN3, NDST4, PLEKHB1) and one candidate gene with suggestive uniparental disomy (SVEP1). However, re-sequencing did not identify any additional variant carriers in these candidate genes. Analysis of the affected sib-pair revealed no candidate gene. Re-sequencing of the genes within the 22q11.2 CBE phenocritical region identified two highly conserved frameshift variants that led to early termination in two independent CBE males, in LZTR1 (c.978_985del, p.Ser327fster6) and in SLC7A4 (c.1087delC, p.Arg363fster68). CONCLUSIONS: According to previous studies, our study further implicates LZTR1 in CBE formation. Exome analysis-derived candidate genes from CE individuals may not represent a frequent indicator for other BEEC phenotypes and warrant molecular analysis before their involvement in disease formation can be assumed.

Sexual activity and function of adult men with spina bifida.

OBJECTIVE: Data on sexual function of men with spina bifida (SB) is limited. We aimed to assess sexual activity and erectile dysfunction (ED) in a large international sample of men with SB. METHODS: Men with SB (≥18yo) were recruited in an international online survey via clinics and social media. We collected data on demographics, ambulation (Hoffer classification), penile rigidity (Erection Hardness Score), sexual activity and ED (International Index of Erectile Function). Non-parametric tests were used. RESULTS: A total of 162 men (median age 35, 62% shunted, 38% community ambulators) reported sexual desire similar to the general population (p = 0.82), but 55% were dissatisfied with their sex life (Summary Table). Overall, 36% reported full penile rigidity with erections, more commonly with better ambulation (p = 0.01), 69% had ever experienced orgasm and 84% ejaculated. In 44 men (27%) attempting sexual intercourse in the last 4 weeks, 59% had ED (11% severe, 7% moderate, 14% mild-moderate, 27% mild). In this group, 91% of men reporting less than full penile rigidity had ED, compared to 30% with full penile rigidity (p = 0.001). Overall, partnered non-genital contact in the last 3 months was reported by 56%, solo masturbation: 62%, partnered intercourse: 48% (31% vaginal). Of 54 men who used phosphodiesterase type 5 inhibitors (PDE5I), 80% reported improved erections, 56% improved intercourse. Overall, 40% reported non-genital erogenous zones as most pleasurable, especially with poorer ambulation (p = 0.002, chest/nipples: 73%). COMMENT: Strengths of this study include anonymous, voluntary, online participation maximizing participation of a heterogenous, international population. Whenever available, we compared findings to published values for the general population. Since romantic and sexual activity is a complex intersection of interest, opportunity and ability, a more comprehensive assessment was beyond the study's scope. Future work will focus on the interplay with issues like incontinence. CONCLUSIONS: ED was frequent among men with SB, especially in men with poorer ambulation. PDE5 inhibitors may be beneficial. Partnered sexual activity was reported by half of the men, although it may not involve penetrative intercourse.

A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.

Classic bladder exstrophy represents the most severe end of all human congenital anomalies of the kidney and urinary tract and is associated with bladder cancer susceptibility. Previous genetic studies identified one locus to be involved in classic bladder exstrophy, but were limited to a restrict number of cohort. Here we show the largest classic bladder exstrophy genome-wide association analysis to date where we identify eight genome-wide significant loci, seven of which are novel. In these regions reside ten coding and four non-coding genes. Among the coding genes is EFNA1, strongly expressed in mouse embryonic genital tubercle, urethra, and primitive bladder. Re-sequence of EFNA1 in the investigated classic bladder exstrophy cohort of our study displays an enrichment of rare protein altering variants. We show that all coding genes are expressed and/or significantly regulated in both mouse and human embryonic developmental bladder stages. Furthermore, nine of the coding genes residing in the regions of genome-wide significance are differentially expressed in bladder cancers. Our data suggest genetic drivers for classic bladder exstrophy, as well as a possible role for these drivers to relevant bladder cancer susceptibility.

[Nephrolithiasis and nephrocalcinosis in children and adolescents]. / Nephrolithiasis und Nephrokalzinose bei Kindern und Jugendlichen.

BACKGROUND: Nephro- or urolithiasis is a common disease. The prevalence of the disease is increasing in both pediatric and adult patients. The genomic calculation of prevalence may reveal higher levels than the previous diagnosis rates. Monogenic kidney stone disease has been identified in 30% of pediatric and 10% of adult patients. OBJECTIVES: Even if it seems legitimate to assume that there is no specific underlying disease in the case of a one-time stone episode, such a disease must be excluded in the pediatric patient. Therefore, the present study discusses in detail the evaluation and treatment of kidney stones in children. METHODS: Repeated analysis of 24 h urine samples, or multiple spot urine samples in infants and young children, usually provides evidence of the underlying pathology. In addition, any stone removed should be analyzed. These findings are followed by directed genetic diagnostics. Ultrasonography is the preferred diagnostic method. For symptomatic stones, a minimally invasive method of stone removal is chosen if possible, but not every stone needs to be removed. Family workup must be performed, when a specific diagnosis is made in an index case. CONCLUSION: Early diagnosis is important to avoid recurrences despite the few treatment options available. Delayed diagnosis can have catastrophic consequences for patients (e.g., renal failure). Standard treatment with hyperhydration and alkali citrate treatment alone often helps prevent recurrences. New therapeutic options give hope that stone diseases will become more treatable. Finally, early diagnosis often avoids problematic courses.

Ultra-mini-PCNL using the urological Dyna-CT in small infants: a single-center experience.

PURPOSE: To analyze and share our experience with ultra-mini-PCNL using the urological Dyna-CT in small infants. METHODS: A retrospective analysis was performed on all infants younger than 3 years of age who underwent ultra-mini-PCNL at our institution since 2016. Operating time, fluoroscopy time, dose area product (DAP), stone-free status, intra- and postoperative complications and the duration of hospital stay were analyzed. RESULTS: A total of nine interventions conducted on eight children were evaluated. The mean age of infants was 22.8 ± 11.9 months. The mean operation time and the mean fluoroscopy time were 119.2 ± 51.8 min, and 190.4 ± 93.8 s, respectively. The mean DAP was 11.4 ± 6.9 µGym2 and the stone clearance at 3 months was 87.5%. No major postoperative complications were assessed, and no transfusion was given. The mean hospital stay was 4 (IQR 3-6) days. CONCLUSION: Ultra-mini-PCNL utilizing the urological Dyna-CT can safely and effectively be performed in small infants with kidney stones. In this setting, the urological Dyna-CT allows for a very low radiation exposure.

Bladder cancer in patients with neurogenic bladder disorder: a comparative study of different etiologies.

PURPOSE: The objective of this study was to conduct a comparative study of different etiologies of neurogenic bladder disorders (NBDs) in patients with bladder cancer (BC) regarding patient- and tumor-related parameters and their oncological outcome. METHODS: Out of 98 patients with bladder tumors and neurogenic disease, 23 patients with BC and NBDs from Jan 1, 2010, to Dec 31, 2020, were included. The different etiologies of NBDs were merged in three groups based on the level of the nervous system (NS)-lesion: (i) central (n = 6), (ii) spinal cord (n = 10), and (iii) peripheral lesions (n = 7). RESULTS: Patients with lesions at the spinal cord level were younger at the time of BC diagnosis compared to patients with central or peripheral NS lesions (54 vs. 68 vs. 78 years, p = 0.0219). However, the latency to malignant transformation was more than twice as long (33 vs. 15 years, p = 0.0108). Most tumors were muscle-invasive or locally advanced BCs (62%) and presented lymph node metastases (55%), resulting in a poor mean overall survival of 30.9 ± 3.6 months. No significant differences regarding histopathology, tumor stage, and oncological outcome could be observed between the groups. CONCLUSION: Patients with NBDs have a poor prognosis regardless of their etiology or the level of NS lesion. Patients with spinal cord lesions, including congenital NBDs, appear to develop BC at a young age, but compared to other etiologies latency from NBD to BC is longer.

Urinary and Fecal Continence in Adolescent and Adult Patients With Cloacal Exstrophy.

OBJECTIVE: To evaluate the prevalence of urinary (UI) and fecal incontinence (FI) and the incontinence-related quality of life (QoL) in adolescent and adult patients with cloacal exstrophy (CE) in Germany. PATIENTS AND METHODS: CE-patients of a tertiary care center and the German support group for anorectal malformations (SoMA e.V.) were included (October 2015 until September 2020). Data were assessed using a composed questionnaire consisting of 18 self-generated questions and two validated German questionnaires (King's health questionnaire, Questionnaire on Quality of Life in Fecal Incontinence (FLQAI)). RESULTS: Out of 23 included patients, 19 had continent and 3 incontinent urinary diversions (UD), 1 was unspecified; 2/23 were on dialysis. 73.7% (14/19) had undergone bladder augmentation, 4/19 had a pouch, 1/19 a neobladder. 94.7% (18/19) had a continent cutaneous channel and performed intermittent self-catheterization. UI was common (71.4%, 15/21). Neither the UD nor the involuntary loss of urine itself had a significant impact on QoL. Comparing the King's health questionnaire results, UI-related QoL of CE-patients was significantly lower than in a published reference group. 78.3% (18/23) had a bowel stoma. 34.8% (8/23) reported involuntary stool-soiling. Neither the way of bowel-emptying nor involuntary stool-soiling itself showed significant influence on FI-related QoL in the FLQAI. FLQAI items showed significant differences only for one of two published reference groups. CONCLUSION: Long-term incontinence rates in adolescent and adult CE-patients are high. Incontinence-related QoL was reduced compared to published reference groups but was minimally influenced by incontinence itself, the type of UD or the way of bowel-emptying, respectively.

Postnatal Management in Congenital Lower Urinary Tract Obstruction With and Without Prenatal Vesicoamniotic Shunt.

Purpose: Congenital lower urinary tract obstruction (cLUTO) includes a heterogeneous group of conditions caused by a functional or mechanical outlet obstruction. Early vesicoamniotic shunting (VAS) possibly reduces the burden of renal impairment. Postpartum, pediatric urologists are confronted with neonates who have a shunt in place and a potentially impassable urethra with a narrow caliber. Early management of these patients can be challenging. Here, we would like to share the approach we have developed over time. Materials and Methods: We conducted a single-center retrospective analysis from 2016 to 2020 and included all patients diagnosed with cLUTO. Data focusing on time point and type of intervention was collected. Furthermore, patients with temporary diversion via a percutaneous VAS were selected for a more detailed review. Results: In total, 71 cases of cLUTO were identified during the study period. Within this group, 31 neonates received postnatal management and surgical intervention in our center. VAS was performed in 55% of these cases (N = 17). The postnatal treatment varied between transurethral or suprapubic catheterization and early Blocksom vesicostomy. In five infants with VAS, the urinary drainage was secured through the existing VAS by inserting a gastric tube (N = 1) or a 4.8 Fr JJ-stent (N = 4). To our knowledge, this is the first report of a stent-in-stent scheme, which can remain indwelling until the definite treatment. Conclusion: Having a secure urine drainage through a VAS allows the often premature infant to grow until definite surgery can be performed. This avoids placing a vesicostomy, which requires anesthesia.

Single- vs multiple-layer wound closure for flank incisions: results of a prospective, randomised, double-blinded multicentre study.

OBJECTIVE: To compare the incidence of postoperative flank bulges between patients with multiple-layer closure and single superficial-layer closure after retroperitoneal surgery via open flank incision in the SIngle versus MUltiple-LAyer wound Closure for flank incision (SIMULAC) trial. PATIENTS AND METHODS: The study was a randomised controlled, patient- and assessor-blinded, multicentre trial. Between May 2015 and February 2017, 225 patients undergoing flank incisions were randomised 1:1 to a multiple-layer closure (SIMULAC-I) or a single superficial-layer closure (SIMULAC-II) group. The primary outcome was the occurrence of a flank bulge 6 months after surgery. RESULTS: Overall, 177 patients (90 in SIMULAC-I, 87 in SIMULAC-II) were eligible for final assessment. The cumulative incidence of a flank bulge was significantly higher in the SIMULAC-II group (51.7%) compared to the SIMULAC-I group [34.4%; odds ratio (OR) 2.04, 95% confidence interval (CI) 1.11-3.73; P = 0.02]. Rate of severe postoperative complications (4.4% SIMULAC-I vs 10.3% SIMULAC-II; P = 0.21) or hernia (6.7% SIMULAC-I vs 10.3% SIMULAC-II; P = 0.59) was similar between the groups. There was no difference in pain (visual analogue scale) and the requirement for pain medication at 6 months postoperatively. Quality of life assessed with the European Quality of Life 5 Dimensions Questionnaire was higher in the SIMULAC-I group compared to the SIMULAC-II group at 6 months postoperatively, with a (median range) score of 80 (30-100) vs 75 (5-100) (P = 0.012). CONCLUSION: The overall risk of a flank bulge after flank incision is high. Multiple-layer closure after flank incision should be performed as a standard procedure.

Bladder cancer in patients with spina bifida: a serious risk.

PURPOSE: After bladder augmentation (BA) using bowel segments, it is known that there is a risk for secondary malignancies. It remains unclear whether this also applies to spina bifida (SB) patients without BA. The aim of this study was to analyze the frequency of bladder cancer (BC) in SB at a single tertiary institution and assess the patients' oncologic outcome. METHODS: Patients with SB and BC treated from January 2016 until March 2020 were included and corresponding data were collected retrospectively. Endpoints were progression-free survival (PFS) and overall survival (OS). RESULTS: Among 132 adult patients with SB, four with a median age of 34.5 years (IQR 31.5-36.8, range 31-37) had a BC. None of the patients had undergone BA. Most common symptoms included recurrent urinary tract infections (UTI) (75%) and hydronephrosis (75%). At the time of the diagnosis, tumors were locally advanced (≥ T3) and lymph-node positive in all cases. All patients underwent radical cystectomy with adjuvant chemotherapy in two out of four cases. Histology showed squamous cell carcinomas (SCC) or at least a squamous cell component in all patients. The median PFS was 5.9 months (IQR 5.1-124.5) and the median OS was 8.7 months (IQR 6.3-125.5). CONCLUSIONS: SCC in SB can appear at a young age and is usually diagnosed in an advanced tumor stage with poor prognosis despite radical surgical resection. Patients with SB without BA with clinical symptoms, new onset of hematuria, and/or upper tract dilatation should receive a cystoscopy ± further imaging.

[Testicular tumors in prepubertal boys-organ preservation possible more often than expected]. / Hodentumoren bei präpubertären Jungen ­ Organerhalt häufiger möglich als gedacht.

In prepubertal boys, testicular tumors are rare with an incidence between 2 and 5/million. In contrast to testicular tumors in adolescents and adults, more than 2/3 of these tumors are benign. Unfortunately, in Germany in most cases, only malignant tumors (usually yolk sac tumors) are reported to the study center (MAKEI IV and now V). Therefore, the incidence in Germany is unknown. Since the introduction of polychemotherapy in the 1970s, the prognosis of malignant testicular tumors has improved enormously and has become a curable disease, even in the case of recurrence. Today the orchiectomy, which was usually carried out in the past, appears to be no longer justified in most prepubertal boys due to the high incidence of benign tumors. It has been shown in various studies that organ-sparing surgery in germ cell tumors (epidermoid cysts, teratoma); gonadal stoma tumors (Sertoli, Leydig and granulosa cell tumors) and cystic lesions (intratesticular cysts and tubular ectasia of the rete testis) is reliable and safe. In cases with preoperative significantly increased AFP (caution: norm values not valid in the first year of life) and a clear testicular tumor in the ultrasound (yolk sac tumor) or if no testicular parenchyma is sonographically detectable, orchiectomy can still be carried out. Today orchiectomies in prepubertal boys should be an exception and the reasons for an orchiectomy must be well documented.

[Scrotal orchidopexy for palpable undescended testis]. / Operative Zugangswege beim Gleithoden und tiefen Leistenhoden ­ skrotaler Zugang.

Undescended testis is the most common genitourinary disorder during childhood. The traditional inguinal approach still represents the standard technique to correct undescended testis. However, over the last decades a large number of studies have shown that the scrotal approach has a lower morbidity rate and significantly shorter operation times and offers a good cosmetic result as well as an equal surgical treatment result, which makes it a good alternative to the traditional inguinal approach in gliding and low palpable testis.

[Pediatric and adolescent varicocele - When, why and how to treat?] / Varikozele im Kindes- und Jugendalter.

The treatment of a varicocele in childhood and adolescence is considered very controversial. In the past varicocele was often diagnosed during the medical examination for military purposes, but today varicocele is common in the J1 exam and is found rather frequently. However, we are still lacking evidence-based recommendations. This means that urologists and paediatric urologists are increasingly confronted with the question of whether intervention is necessary or not.The literature on this is very contradictory. Systematic reviews and meta-analyses have recently shown that there are only modest benefits of intervention in terms of testicular size and spermiogram quality. Solid data on the impact on paternity rates are still lacking. However, it has been shown that if an intervention is to be made, the lymphatic sparing techniques have a distinct advantage.Possible indications for intervention may be the persistent difference in size of the testes (> 20 % for at least 6 months), a symptomatic varicocele (very subjective criterion), a pathological spermiogram (better 2), and possibly the presence of additional fertility-limiting factors.

[Pelviureteric junction obstruction and crossing vessels: pro "vascular hitch"]. / Subpelvine Stenose & kreuzende Gefäße ­ Pro "vascular hitch".

The vascular hitch procedure for pelviureteric junction obstruction caused by crossing lower-pole vessels is a controversial treatment option. Since this minimally-invasive technique has been introduced in patients with aberrant lower-pole vessels, multiple publications have reported successful short, intermediate and long-term outcomes. Success rates of > 90 % are similar to those of Anderson-Hynes pyeloplasty. In general, an associated intrinsic stenosis seems to be rare. Histological evidence of muscular hypertrophy may simply indicate a compensatory mechanism and may be reversible to a certain degree. To differentiate between those patients who are eligible for a vascular hitch procedure and those who should receive an initial Anderson-Hynes pyeloplasty, an intraoperative diuretic test should be performed (volume bolus plus intravenous administration of furosemide). An associated intrinsic stenosis seems to be unlikely in a funnel-like and otherwise normal-looking pelviureteric junction, decreasing hydronephrosis after mobilisation of renal pelvis and crossing vessels and effective peristalsis of the renal pelvis after intraoperative diuretic testing. The vascular hitch technique is less demanding than laparoscopic Anderson-Hynes pyeloplasty and less time-consuming with regard to the duration of the surgical procedure and anaesthesia. Further advantages are: no risk of urinary leakage or anastomotic stricture and no need for intra-luminal stenting. Therefore, in a selected group of patients with solely extrinsic pelviureteric junction obstruction, the vascular hitch procedure is a valuable alternative to classic Anderson-Hynes pyeloplasty with seemingly long-term efficiency.