Navigating Life with Posterior Urethral Valves-Sexual Health and Lower Urinary Tract Symptoms.

Background: Quality of life (QoL) is crucial for young adults with posterior urethral valves (PUV). This study investigates the impact of lower urinary tract symptoms (LUTS) on their quality of life and sexual health, including self-efficacy. Methods: Patients aged 16 and older treated for PUV completed four validated questionnaires (Sexual Self-Efficacy Scale (SSES-E), ICIQ MLUTS, ICIQ MLUTSsex, ICIQ LUTSqol) and an individual health questionnaire. Results: Eighteen (52.9%) patients responded, with a median age of 23 years (IQR 18-26). Three had terminal renal failure; two were transplanted. Thirteen urinated naturally; five used a stoma. Sixteen had mild and two had moderate LUTS. Fifteen patients completed the SSES-E, scoring an average of 80, similar to the healthy cohort (83). Renal failure or catheterization did not significantly affect the overall score. In the ICIQ MLUTSsex, patients reported no significant impact of LUTS on sexuality. However, those with moderate LUTS had lower self-efficacy than those with mild symptoms (mean 75 vs. 84). Conclusions: Although quality of life and sexual function do not appear to be significantly impaired, LUTS are common and appear to be associated with a decreased SSE in our cohort. This should be particularly considered during the transition to adult care.

Diagnoses and Treatment Recommendations-Interrater Reliability of Uroflowmetry in People with Multiple Sclerosis.

BACKGROUND: Uroflowmetry (UF) is an established procedure in urology and is recommended before further investigations of neurogenic lower urinary tract dysfunction (NLUTD). Some authors even consider using UF instead of urodynamics (UD). Studies on the interrater reliability of UF regarding treatment recommendations are rare, and there are no relevant data on people with multiple sclerosis (PwMS). The aim of this study was to investigate the interrater reliability (IRR) of UF concerning diagnosis and therapy in PwMS prospectively. METHODS: UF of 92 PwMS were assessed by 4 raters. The diagnostic criteria were normal findings (NFs), detrusor overactivity (DO), detrusor underactivity (DU), detrusor-sphincter dyssynergia (DSD) and bladder outlet obstruction (BOO). The possible treatment criteria were as follows: no treatment (NO), catheter placement (CAT), alpha-blockers, detrusor-attenuating medication, botulinum toxin (BTX), neuromodulation (NM), and physiotherapy/biofeedback (P/BF). IRR was assessed by kappa (κ). RESULTS: κ of diagnoses were NFs = 0.22; DO = 0.17; DU = 0.07; DSD = 0.14; and BOO = 0.18. For therapies, the highest κ was BTX = 0.71, NO = 0.38 and CAT = 0.44. CONCLUSIONS: There is a high influence of the individual rater. UD should be subject to the same analysis and a comparison should be made between UD and UF. This may have implications for the value of UF in the neuro-urological management of PwMS, although at present UD remains the gold standard for the diagnostics of NLUTD in PwMS.

Agony of Choice: Caudal Block versus Ilioinguinal/Iliohypogastric Nerve Block in Unilateral Orchidopexy.

Objective: This prospective study aimed to compare the efficacy of caudal block (CB) and ilioinguinal/iliohypogastric nerve block (IINB) for providing additional analgesia during unilateral orchidopexy. Methods: Seventy-one boys aged <48 months, classified as ASA I/II, were assigned into CB (n = 37) and IINB (n = 34) groups. Outcome measures included intra- and postoperative analgesic requirements, pain scores, and administration duration. Additional intraoperative analgesia was administered for a 10% increase in heart rate, while postoperative pain was assessed using the Children's and Infants Postoperative Pain Scale (CHIPPS), with scores >4 prompting supplementary analgesia. Monitoring was extended for 24 h post-surgery. Results: CB significantly reduced the need for intraoperative (p < 0.001) and early postoperative (p = 0.008) analgesia compared to IINB. However, the CB group exhibited a slightly higher but non-significant analgesic requirement on the ward. No clinically relevant side effects were observed in either group. Conclusions: Both CB and IINB are effective and safe methods for providing regional analgesia during orchidopexy. CB demonstrates superior efficacy intraoperatively and in the early postoperative period, while IINB may offer advantages in the later recovery phase. However, additional analgesia is often required for orchidopexy, especially in outpatient settings.

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.

Ureterocystoplasty in Boys with Valve Bladder Syndrome-Is This Method Still up to Date?

Boys with valve bladder syndrome (PUV) require adequate treatment of the lower urinary tract to preserve renal function and improve long-term outcomes. In some patients, further surgery may be necessary to improve bladder capacity and function. Ureterocytoplasty (UCP) is usually carried out with a small segment of intestine or, alternatively, with a dilated ureter. Our aim was to evaluate the long-term outcomes after UCP in boys with PUV. UCP had been performed in 10 boys with PUV at our hospital (2004-2019). Pre- and postoperative data were evaluated in relation to kidney and bladder function, the SWRD score, additional surgery, complications, and long-term follow-up. The mean time between primary valve ablation and UCP was 3.5 years (SD ± 2.0). The median follow-up time was 64.5 months (IQR 36.0-97.25). The mean increase in age-adjusted bladder capacity was 25% (from 77% (SD ± 0.28) to 102% (SD ± 0.46)). Eight boys micturated spontaneously. Ultrasounds showed no severe hydronephrosis (grade 3-4). The SWRD score showed a median decrease from 4.5 (range 2-7) to 3.0 (range 1-5). No conversion of augmentation was required. UCP is a safe and effective approach to improve bladder capacity in boys with PUV. In addition, the possibility of micturating naturally is still maintained.

[Between wish and reality: more efficiency through increased outpatient procedures in paediatric urology]. / Zwischen Wunsch und Wirklichkeit: Mehr Effizienz durch Ambulantisierung von Eingriffen in der Kinderurologie.

The "outpatientisation" of procedures is gaining more and more interest. According to a report published by the German research institute IGES, more than 2000 procedures will be included in the catalogue for outpatient surgery in the future. This also means a significant increase in the number of procedures that can be performed on an outpatient basis in the field of (paediatric) urology. However, the feasibility, especially in paediatric urology, depends on many specific personnel, organisational and structural conditions.

Open Pyeloplasty in Infants under 1 Year-Proven or Meaningless?

The use of minimally invasive surgery (MIS) to treat ureteropelvic junction obstruction (UPJO) in children has significantly increased. Nowadays, open pyeloplasty (OP) seems to lose importance. The aim of this study is to evaluate the safety and efficacy of OP in infants < 1 year. Medical records of patients < 1 year with UPJO who had undergone retroperitoneal OP (January 2008-February 2022) at our institution were retrospectively analyzed. Included patients were operated on according to a modified Anderson-Hynes technique. All clinical, operative, and postoperative (1 month-5 years' follow-up) data were collected. Additionally, a nonvalidated questionnaire was sent to the patients/parents. A total of 162 infants (124 boys) met the inclusion criteria. The median age at surgery was 3 months (range: 0-11 months). The median operation time was 106 min (range: 63-198 min). None of the patients had severe surgical complication (Clavien-Dindo > 3). The nonvalidated questionnaire showed a high impact of quality of life. Follow-up was in median 30.5 months (0-162 months). OP is still a reliable procedure with good long-term results especially in infants < 1 year of age, which can be performed in a variety of centers.

Genome-wide association study in patients with posterior urethral valves.

Congenital lower urinary tract obstructions (LUTO) are most often caused by posterior urethral valves (PUV), a male limited anatomical obstruction of the urethra affecting 1 in 4,000 male live births. Little is known about the genetic background of PUV. Here, we report the largest genome-wide association study (GWAS) for PUV in 4 cohorts of patients and controls. The final meta-analysis included 756 patients and 4,823 ethnicity matched controls and comprised 5,754,208 variants that were genotyped or imputed and passed quality control in all 4 cohorts. No genome-wide significant locus was identified, but 33 variants showed suggestive significance (P < 1 × 10-5). When considering only loci with multiple variants residing within < 10 kB of each other showing suggestive significance and with the same effect direction in all 4 cohorts, 3 loci comprising a total of 9 variants remained. These loci resided on chromosomes 13, 16, and 20. The present GWAS and meta-analysis is the largest genetic study on PUV performed to date. The fact that no genome-wide significant locus was identified, can be explained by lack of power or may indicate that common variants do not play a major role in the etiology of PUV. Nevertheless, future studies are warranted to replicate and validate the 3 loci that yielded suggestive associations.

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.

Urofacial (also called Ochoa) syndrome (UFS) is an autosomal recessive congenital disorder of the urinary bladder featuring voiding dysfunction and a grimace upon smiling. Biallelic variants in HPSE2, coding for the secreted protein heparanase-2, are described in around half of families genetically studied. Hpse2 mutant mice have aberrant bladder nerves. We sought to expand the genotypic spectrum of UFS and make insights into its pathobiology. Sanger sequencing, next generation sequencing and microarray analysis were performed in four previously unreported families with urinary tract disease and grimacing. In one, the proband had kidney failure and was homozygous for the previously described pathogenic variant c.429T>A, p.(Tyr143*). Three other families each carried a different novel HPSE2 variant. One had homozygous triplication of exons 8 and 9; another had homozygous deletion of exon 4; and another carried a novel c.419C>G variant encoding the missense p.Pro140Arg in trans with c.1099-1G>A, a previously reported pathogenic splice variant. Expressing the missense heparanase-2 variant in vitro showed that it was secreted as normal, suggesting that 140Arg has aberrant functionality after secretion. Bladder autonomic neurons emanate from pelvic ganglia where resident neural cell bodies derive from migrating neural crest cells. We demonstrated that, in normal human embryos, neuronal precursors near the developing hindgut and lower urinary tract were positive for both heparanase-2 and leucine rich repeats and immunoglobulin like domains 2 (LRIG2). Indeed, biallelic variants of LRIG2 have been implicated in rare UFS families. The study expands the genotypic spectrum in HPSE2 in UFS and supports a developmental neuronal pathobiology.

How the First Year of COVID-19 Affected Elective Pediatric Urology Patients: A Longitudinal Study Based on Waiting Lists and Surveys From 10 European Centers.

Introduction: COVID-19 impacted healthcare systems worldwide, and elective surgical activity was brought to a minimum. Although children were not primarily affected by the disease, pediatric urology was halted by clinical closedown and staff allocation. We aimed to document how these prioritizations affected waiting lists, and to investigate how European centers dealt with the challenge of these logistical and financial prioritizations. Materials and Methods: This was a 1-year prospective study, starting March 2020. Participants were surveyed at 3-month intervals about waiting lists for several common procedures as well as OR capacity and funding. Further, centers retrospectively reported on surgical and outpatient activity rates during 2019-2021. Waiting list tendencies were evaluated in relation to study baseline. Results: A marked decrease in surgical and outpatient activity was seen in the spring of 2020. Some included pediatric urology centers were able to increase their budget (15%) and staff working hours (20%) during part of the study period. Still, at the end of the study, the centers had increased the total number of patients on waiting lists with 11%, whereas the average days on waiting lists had accumulated with 73%, yielding a total of 6,102 accumulated waiting days in the study population. Centers with decreased resources had markedly negative effects on waiting lists. Conclusions: Correlations between COVID-19 derived burdening of healthcare systems and the availability of pediatric urology greatly depends on the prioritizations made at individual centers. Ongoing monitoring of these correlations is warranted to safely avoid unnecessary negative impact on the pediatric population.

Is Vesicostomy Still a Contemporary Method of Managing Posterior Urethral Valves?

In boys with posterior urethral valves (PUVs) the main treatment aim is to preserve long-term bladder and renal function. To determine the effectiveness of secondary vesicostomy in boys with PUVs, the medical records of 21 patients with PUV (2010-2019), divided into two groups (group I: valve ablation; group II: secondary vesicostomy), were reviewed regarding the course of serum creatinine, renal ultrasound, voiding cystourethrogram, urodynamics, postoperative complications, need of further surgery, and long-term solution. The median age of all patients at first follow-up was 11 (9-13) months and at last follow-up 64.5 (39.5-102.5) months. Despite a significant difference of the SWDR score (shape, wall, reflux, and diverticula) (p = 0.014), both groups showed no significant differences preoperatively. Postoperatively, serum creatinine (p = 0.024), grade of vesicoureteral reflux (p = 0.003), side of upper tract dilatation (p = 0.006), side of megaureter (p = 0.004), and SWDR score (p = 0.002) were significantly decreased in group II. Postoperative urodynamic measurements showed comparable results in both groups. Stoma complications were found in three (20%) patients (group II). Eight (53.3%) patients already received a closure of the vesicostomy. Seven out of eight (87.5%) patients were able to micturate spontaneously. Vesicostomy remains a reliable treatment option for boys with PUV to improve bladder function and avoid further damage to the urinary tract.

Delayed primary closure of bladder exstrophy without osteotomy: 12 year experience in a safe and gentle alternative to neonatal surgery.

BACKGROUND: Successful primary closure of bladder exstrophy is of utmost importance for bladder capacity and urinary continence. We evaluated our concept of delayed primary closure that challenges the role of neonatal surgery, pelvic osteotomy, and perioperative pain management. MATERIAL AND METHODS: We reviewed the medical records of patients with classic bladder exstrophy (CBE) who had undergone delayed primary closure without osteotomy at our institution between January 2008 and May 2020. Data to be analyzed included patient demographics, intraoperative pelvic laxity, blood transfusion, postoperative ventilation time, requirement of pain medication, time to full feeds, length of ICU stay, postoperative complications, and total hospital stay. RESULTS: 66 patients (44 boys) met the inclusion criteria. Mean age at surgery was 64.8 days (SD±24.7). Pelvic approximation < 5 mm was possible in 66 (100%) patients. Blood transfusion was required by 31 (47%) patients. 14 (21.2%) patients needed postoperative ventilation for a mean time of 2.7 h. 45 (68.2%) children required intravenous opioids in addition to an epidural catheter. Oral feeding started on average 17.6 h after surgery. Mean ICU stay was 1.3 day. The initial success rate of delayed closure was 93.9%. None of the patients had bladder dehiscence. Girls developed more often minor postoperative complications than boys (m/f: 12 [27.3%] vs. 8 [36.4%]. Mean overall time of hospitalization was 19 days (13-34 d). CONCLUSION: Delayed primary closure of CBE without osteotomy but with continuous epidural blockage is a safe and promising procedure that has crucial advantages in the pre- and postoperative management of CBE. LEVEL OF EVIDENCE: Level III.

Zinner syndrome and infertility─a literature review based on a clinical case.

Zinner syndrome (ZS) is a rare congenital malformation associated with seminal vesicle cysts, ejaculatory duct obstruction, and ipsilateral renal agenesis. The main treatment focus so far has been on symptomatic patients. Therefore, surgery has been reserved for these patients, and surgical treatment is mainly aimed at pain relief. ZS seems to be frequently associated with infertility, but diagnosing is challenging, particularly during adolescence. This literature review of ZS and infertility is based on the medical report of one adolescent patient.

[Juvenile granulosa cell tumor-Testicular tumor of the very young : Report of three cases and contemporary recommendations]. / Der juvenile Granulosazelltumor ­ der Hodentumor der Kleinsten : Aktuelle Handlungsempfehlungen anhand von drei Kasuistiken.

Juvenile granulosa cell tumor of the testis is a relevant differential diagnosis regarding testicular neoplasia of the very young. This benign lesion requires surgical treatment. Metastases or recurrences have not been described in literature. We present three different cases and give recommendations for diagnosis and treatment.