IntroductionUreteral stents facilitate recovery and avoid external drains in pediatric ureteral reconstruction. Extraction strings avoid the need for a secondary cystoscopy and anesthetic. Due to concerns regarding febrile UTIs in children with extraction strings, we retrospectively assessed the relative risk of UTI in children with extraction strings.ObjectiveOur hypothesis was that stents with extraction strings do not increase the risk of UTI after pediatric ureteral reconstruction.MethodsRecords of all children undergoing pyeloplasty and ureteroureterostomy (UU) from 2014 to 2021 were reviewed. The incidences of UTI, fever, and hospi-talization were recorded.Results245 patients mean age 6.4 years (163M:82F) under-went pyeloplasty (n = 221) or UU (n = 24). 42% (n = 103) received prophylaxis. Of these, 15% developed UTI versus 5% of those not receiving prophylaxis (p < 0.05). 42 females had prior history of UTI, compared to 20 males (p < 0.05). 49 patients had an extraction string. Stents with extraction strings were removed on average 0.6 months post-op while others underwent cystoscopic removal on average 1.26 months post-op (p < 0.05). 9 (18.4%) required hospitalization for febrile UTI while the stent with extraction string was in place, while only 13 (6.6%) of those without extraction string did (p < 0.02). Of the 9 children with a febrile UTI in the extraction string group, 6 had history of prior UTI (46.1%), compared to only 3 (8.3%) without a prior UTI (p < 0.05). With no prior UTI, there was no difference in UTI risk between those with (3, 8.3%) and without (8, 6.4%) extraction string (p = 0.71). Females with prior UTI and extraction string were more likely to develop UTI than those with prior UTI and no extraction string (p = 0.01). There were not enough males with history of UTI to analyze alone. There were 5 (10%) stent dislodgements in the extraction string group, 2 required further intervention with cystoscopy or percutaneous drainage.DiscussionExtraction strings provide the assurance of drainage while avoiding the need for a second general anesthetic procedure. There is not an increased risk of UTI with extraction string in those without prior history of UTI, but we no longer routinely leave extraction strings if there is history of UTI.ConclusionChildren, particularly females, with prior history of UTI have a significantly increased risk of febrile UTIs associated with the use of extraction strings. Pro- phylaxis does not seem to reduce this risk. Patients with no prior UTI had no higher risk of UTI with extraction string use for pyeloplasty or UU.

INTRODUCTION:Early B-cell factor 3 (EBF3) is a transcription factor involved in neuronal differentiation and maturation. Pathogenic variants are associated with hypotonia, ataxia, and delayed development syndrome (HADDS) (MIM#617330). Urologic manifestations are common and may have implications regarding long term renal function.OBJECTIVE:To review all known patients with pathogenic variants of the EBF3 gene resulting in HADDS with urologic manifestations. We hypothesize a high rate of bladder dysfunction secondary to the EBF3 variant's impact on relaxation of the urinary sphincter leading to detrusor sphincter dyssynergia (DSD).METHODS:The PubMed database was queried for publications of the EBF3 mutation between January 2017 and January 2023. Search terms were "EBF3 mutation OR HADDS AND urology OR phenotype". Retrospective analysis of HADDS patients cared for in our institution was performed. Demographic and clinical information was collected.RESULTS:We identified 52 patients (33F:19M) through literature (28F:18M) and retrospective review (5F:1M). There was a high prevalence of genitourinary physical exam abnormalities, history of urinary tract infection, vesicoureteral reflux (VUR), and diagnosis of neurogenic bladder. Within the literature review cohort, 67% had a urologic diagnosis. Females were disproportionately affected with urologic manifestations. In our cohort, four of six children were diagnosed with VUR and severe voiding dysfunction consistent with neurogenic bladder (67%). These children were managed with a vesicostomy. Five children had bowel dysfunction requiring therapy. Urodynamics suggested a high prevalence of external sphincter dyssynergia. Less severe forms of DSD were felt to be implicated in the abnormal voiding parameters in children who presented later in life based on non-invasive flow studies.DISCUSSION:There is significant variability in the phenotypic presentation of patients with HADDS. While EBF3 plays a clear role in neurodevelopment, it also impacts muscle development and may impact muscle relaxation. The location of the genetic variant may impact the degree of DSD, with more severe forms leading to earlier presentations. Initial work-up should include a renal ultrasound (RUS) and post void residual (PVR). Consideration can be given to obtaining a VCUG, DMSA scan or urodynamic studies. Yearly screening should be pursued with an RUS and PVR in those with an initial unremarkable work-up given the variable timing and severity of presentation.CONCLUSION:Urologic manifestations of HADDS include high rates of bladder dysfunction secondary to DSD, vesicoureteral reflux, urinary tract infection, and cryptorchidism. These patients are at risk of renal deterioration if urinary abnormalities are not properly diagnosed and managed.

Clinical History: A 12-month child (10 kg) with ureteropelvic junction obstruction required ureteral stent placement during a robotic pyeloplasty. There was no history of ureteral instrumentation. We describe a novel technique for ureteral orifice dilatation in young children who cannot accommodate traditional ureteral dilators. Physical Examination: The patient had normal external genitalia. A 10F rigid cystoscope was inserted into the bladder and the ureteral orifice was located. There were no abnormalities noted within the bladder. Diagnosis: A 0.018 glide wire was passed through the ureteral orifice without resistance. A 4.8F ureteral stent would not pass beyond the ureteral orifice. Ureteral stent placement in infants can be challenging because of the small caliber of the orifice and lack of ureteral dilators smaller than 6F. This is typically discovered at time of surgery. Intervention: This technique requires the Cook salivary access dilator set, a 0.018 straight glide wire, and a rigid cystoscope. The salivary duct dilators were sequentially passed over the wire starting with the 4F dilator followed by 5F and 6F dilators. This was performed alongside a cystoscope with direct observation for educational purposes but can also be performed under fluoroscopic guidance. Finally, a ureteral stent was advanced with ease. Follow-Up/Outcomes: The patient has done well with his ureteropelvic junction repair. Salivary duct dilators offer a smaller caliber dilator that can facilitate retrograde stent placement in infants. We have used this technique with success in several infants whose ureteral orifice would not accommodate a 4.8F ureteral stent. Authors have received and archived patient consent for video recording/publication in advance of video recording of procedure. No competing financial interests exist. Runtime of video: 2 mins 11 secs

Urethrocutaneous fistula is an unfortunate but well recognized complication of hypospadias repair surgery and traumatic injury to the penis. Congenital anterior urethrocutaneous fistula of the male urethra is an exceedingly rare phenomenon, with approximately 50 cases being reported in the literature. We report a case of proximal isolated congenital anterior urethrocutaneous fistula at the penoscrotal junction.

Bladder masses are an infrequent occurrence rarely suspected in cases of pediatric hematuria. Inflammatory myofibroblastic tumors represent one differential diagnosis that is difficult to characterize as purely benign and should therefore be given special consideration. Although uncommon, this is an important entity to recognize for potential bladder sparing and minimally invasive surgical approaches.

You have accessJournal of UrologyPediatric Urology IV (MP51)1 Sep 2021MP51-07 MYOCARDIN LOSS-OF-FUNCTION VARIANTS DOWN-REGULATE SMOOTH MUSCLE DEVELOPMENT IN PRUNE BELLY SYNDROME (PBS) Alexandria N. Fusco, Jeremy A. Mathews, Caitlin T. Coco, Thomas J. Egeland, Brandi L. Cantarel, Nathalia G. Amado, and Linda A. Baker Alexandria N. FuscoAlexandria N. Fusco More articles by this author , Jeremy A. MathewsJeremy A. Mathews More articles by this author , Caitlin T. CocoCaitlin T. Coco More articles by this author , Thomas J. EgelandThomas J. Egeland More articles by this author , Brandi L. CantarelBrandi L. Cantarel More articles by this author , Nathalia G. AmadoNathalia G. Amado More articles by this author , and Linda A. BakerLinda A. Baker More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000002077.07AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: The etiology of the smooth and skeletal myopathy in PBS is incompletely understood. Here we report 5 novel DNA variants in Myocardin (MYOCD), a serum response factor transcriptional co-activator heavily expressed in developing bladder. MYOCD is a master gene regulator of smooth muscle cell (SMC) development and functions as a switch between smooth and skeletal muscle cell phenotypes. To elucidate the causal potential for PBS in these patients, we investigated the functional impact of our PBS MYOCD variants in SMCs. METHODS: Using IRB-approved methods, PBS subjects and their family members were prospectively enrolled and phenotyped. Proband DNA from blood lymphocytes underwent paired-end Whole Exome Sequencing (WES). After data analysis, variant calls were filtered for rare minor allele frequency and validated by Sanger sequencing. For cell-based analysis of Myocd function, site directed mutagenesis was performed on wild type (WT) GFP-MYOCD plasmid for each DNA variant. With endogenous Myocd siRNA silencing, A7R5 rat vascular SMCs were transfected 48hrs with WT or mutated plasmid, mRNA was extracted, and qPCR was performed for SMC markers. Similarly, MYOCD constructs were co-transfected for Sm22α-luciferase reporter assay. RESULTS: WES of 140 probands identified 5 novel MYOCD mutations on conserved residues, including 2 truncations in 2 multiplex PBS families and 3 missense in 4 sporadic PBS cases (Fig. 1). Family A, B and F have unaffected carrier females and Family A and D have the first reported unaffected carrier males. qPCR (n=2) from GFP-MYOCD transfected cells showed that 3 of 5 MYOCD mutations significantly inhibited expression of Myh11 (6, 5, and 2X) and Tagln and Acta2 (5, 2, and 3X) when N125Tfs*9, R384*, and Q647H were transfected, respectively. Sm22α-luciferase reporter assay (n=1) revealed a 12-fold inhibition of Myocd activity in all 5 PBS mutations. CONCLUSIONS: Five novel MYOCD mutations in 2 familial and 4 sporadic PBS cases highlight the genetic transmission of PBS via asymptomatic carriers, suggesting incomplete penetrance or genetic modifiers. These loss-of-function mutations affect MYOCD function in vitro, decreasing expression of genes necessary for smooth muscle development and suggesting causation for the PBS bladder phenotype. Source of Funding: NIH DK100483 and DK127589 PI: Baker, L.A © 2021 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 206Issue Supplement 3September 2021Page: e898-e899 Advertisement Copyright & Permissions© 2021 by American Urological Association Education and Research, Inc.MetricsAuthor Information Alexandria N. Fusco More articles by this author Jeremy A. Mathews More articles by this author Caitlin T. Coco More articles by this author Thomas J. Egeland More articles by this author Brandi L. Cantarel More articles by this author Nathalia G. Amado More articles by this author Linda A. Baker More articles by this author Expand All Advertisement PDF downloadLoading ...

PURPOSE OF REVIEW:Vesicoureteral reflux (VUR) management has been steadily evolving over the last several years. There is not a definitive algorithm for operative intervention, but there are some recognized patterns to follow when caring for this patient base. It is extremely relevant to review the rationale behind practice patterns as both literature and clinical practice are dynamic.RECENT FINDINGS:VUR is a common malady that is emotionally, physically, and financially draining for families. As new treatment options emerge with minimally invasive techniques and older methods are re-explored, it is imperative to re-evaluate care strategies. This article reviews the mainstays of treatment in addition to newer therapeutic modalities.SUMMARY:The decision to operate on any patient, particularly pediatric patients, must be preceded by sound clinical judgment. Thoughtful planning must be utilized to ensure every patient receives individualized and up-to-date VUR management. This article reviews indications for surgical intervention to consider when managing these patients.

Primary spindle cell sarcoma of the prostate is exceedingly rare and accounts for 0.1% of all prostatic cancers. Typically, the disease course is rapid and portends a short and dismal prognosis. We report a case of prostatic stromal sarcoma PSS) which likely lay dormant for several years after a transurethral resection of the prostate. This case is unique in that this cancer did not display the rapid growth of PSS in prior reports. Our patient received a cystoprostatectomy and an ileal conduit. This article describes a rare presentation of a rare tumor and a brief review of the literature.

ObjectiveTo describe and compare differences in perception of independence, urinary continence, and quality of life in an adult spina bifida (SB) population.MethodsWe collected data on adult neurogenic bladder patients which included demographics, relevant procedures, and quality of life (QoL) questionnaires. QoL and functional outcomes were assessed using spinal cord independence measure (SCIM) and SF‐8 health questionnaire. International consultation of incontinence questionnaire (ICIQ) was used to assess incontinence. Comparisons were drawn between patients who underwent surgical reconstruction and those who did not. Student t‐tests were used for comparisons and a P‐value <0.05 was considered statistically significant.ResultsFifty‐four patients with SB were included. A total of 43% underwent bladder augmentation (BA) and 30% underwent antegrade continence enema (ACE). Patients with BA scored 49 ± 25 on the SCIM survey while those without had higher scores of 68 ± 19 with a P‐value of 0.016. This difference remained evident when patients with ACE were excluded. When comparing ICIQ and SF‐8, no statistically significant differences were found between those who underwent surgical procedures and those who did not.ConclusionsAssessing QoL in congenital NGB patients is a complex task. In our cohort, patients who underwent BA and ACE were shown to have decreased SCIM scores. SCIM scores for BA patients were significantly higher in patients who did not receive a BA independent of ACE status. SF‐8 and ICIQ scores did not show any statistically significant difference in quality of life survey scores in those who underwent procedures versus those who did not.

Stone formation is a known long-term complications of continent urinary reservoirs. We present a rare case of a large stone in a continent cutaneous reservoir in a 56-year-old male managed with percutaneous cystolithotomy. The patient presented with recurrent urinary tract infections and stomal incontinence. CT revealed an 8-cm stone occupying the entire lumen of his reservoir. Rather than removing this large stone through an open approach, the pouch was accessed percutaneously and lithotripsy was performed. In this report, we demonstrate our operative technique and that percutaneous cystolithalopaxy may be a safe and effective alternative for the management of large stones within continent cutaneous reservoirs.

PURPOSE:Malone antegrade continence enema has been a successful and widely used procedure for achieving fecal continence in children. We present data on the previously uninvestigated issue of patient and caregiver regret following surgery for intractable constipation and fecal incontinence. MATERIALS AND METHODS:We reviewed all patients undergoing antegrade continence enema or cecostomy creation at a single institution between 2006 and 2016. Patients and caregivers were assessed for decisional regret using the Decisional Regret Scale. Results were correlated with demographics, surgical outcomes and complications. RESULTS:A total of 81 responses (49 caregivers and 32 patients) were obtained. Mean followup was 49 months. Decisional regret was noted in 43 subjects (53%), including mild regret in 38 (47%) and moderate to severe regret in 5 (6%). No statistical difference in regret was noted based on gender, complications or performance of concomitant procedures. On regression analysis incontinence was strongly associated with decisional regret (OR 4.4, 95% CI 1.1-18.1, p <0.001) and regret increased as age at surgery increased, particularly when patients were operated on at age 13 to 15 years (OR 2.6, 95% CI 1.0-6.4 for age 13 years; OR 2.9, 95% CI 1.1-7.8 for age 14 years; OR 3.1, 95% CI 1.1-8.8 for age 15 years). CONCLUSIONS:This is the first known study describing decisional regret following surgery for fecal incontinence. Surgical factors aimed at achieving continence may be effective in decreasing postoperative regret. The finding of increased regret in teenage patients compared to younger children should be shared with families since it may impact the age at which surgery is pursued.

We report a rare case of isolated penile fracture in a prepubescent male caused by an accidental fall. The patient presented with swelling and ecchymosis on the base of the penis and along the penile shaft. A flexible cystoscopy was performed, which did not reveal any concomitant urethral injury. The penis was degloved and the corporal tear was closed with absorbable suture. Due to the location of the injury, ventral mobilization of the urethra was required. The pathophysiology of penile fracture as well as the diagnosis and management of this rare injury are discussed in this report. (C) 2017 Elsevier Inc.