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Papers by Jennifer Hagerty

Urology, May 1, 2019

Inverted-Y ureteral duplication is one of the rarest anomalies of ureteral branching, which has b... more Inverted-Y ureteral duplication is one of the rarest anomalies of ureteral branching, which has been found to be more prevalent in females. 2 Females commonly present with urinary incontinence often associated with distal limb ectopia to the bladder neck, uterus, or vagina. 2 We present the case of a 7-year-old female with intermittent urinary incontinence who was found to have an inverted-Y ureteral duplication with perianal ectopia. We highlight the role of Magnetic Resonance Urography in the evaluation of females with urinary incontinence and a normal renal/bladder ultrasound who are refractory to behavioral therapy.

Urology, May 1, 2019

Inverted-Y ureteral duplication is one of the rarest anomalies of ureteral branching, which has b... more Inverted-Y ureteral duplication is one of the rarest anomalies of ureteral branching, which has been found to be more prevalent in females. 2 Females commonly present with urinary incontinence often associated with distal limb ectopia to the bladder neck, uterus, or vagina. 2 We present the case of a 7-year-old female with intermittent urinary incontinence who was found to have an inverted-Y ureteral duplication with perianal ectopia. We highlight the role of Magnetic Resonance Urography in the evaluation of females with urinary incontinence and a normal renal/bladder ultrasound who are refractory to behavioral therapy.

Urology, Feb 1, 2009

Congenital bladder diverticula are rare anomalies of the bladder. Patients present with infection... more Congenital bladder diverticula are rare anomalies of the bladder. Patients present with infection, hematuria, and/or urinary obstruction. We report on the case of a 12-year-old boy who developed gross hematuria and recurrent infection owing to a 12-cm bladder diverticulum. Robotic-assisted laparoscopic diverticulectomy was performed. We describe the first reported robotic-assisted laparoscopic diverticulectomy in a pediatric patient.

Urology, May 1, 2000

The efficacy of finasteride in the treatment of gross hematuria associated with benign prostatic ... more The efficacy of finasteride in the treatment of gross hematuria associated with benign prostatic hyperplasia is well established. We evaluated a regimen of pretreatment with finasteride in decreasing perioperative bleeding associated with transurethral resection of the prostate (TURP). A prospective analysis compared 25 patients pretreated with finasteride for 2 to 4 months before TURP with 50 patients without pretreatment. Patients in each group were further separated by the amount of prostate tissue resected. Patients were then followed up for perioperative bleeding, defined as a perioperative blood transfusion requirement or a return visit to the emergency room with gross hematuria or clot retention. None of the patients with less than 30 g of prostate tissue resected experienced perioperative bleeding. In patients with 30 g or more resected, several episodes of bleeding occurred. In the patients pretreated with finasteride, 1 (8.3%) of 12 experienced perioperative bleeding; in the control group, 7 (36.8%) of 19 had an episode of bleeding. In patients with large prostate glands undergoing TURP, pretreatment with finasteride appears useful in reducing perioperative bleeding.

The Journal of Urology, Apr 1, 2008

RESULTS: Fifty four (77%) of the 70 patients had a positive study. Positive predictors were imagi... more RESULTS: Fifty four (77%) of the 70 patients had a positive study. Positive predictors were imaging showing PN (100%), prior when one or more of these risk factors was present. Of the 16 patients in one each. In the remaining 12 with negative studies we could never

The Journal of Urology, Oct 1, 2007

Intravesical electrotherapy was previously shown to be effective for improving bladder capacity a... more Intravesical electrotherapy was previously shown to be effective for improving bladder capacity and compliance. We evaluated our 22-year experience with this therapy in patients with neurogenic bladder. Materials and Methods: The charts of 405 patients who received intravesical electrotherapy were reviewed. Cystometrograms were performed at the start of each treatment series. Bladder capacity and pressure were determined for each patient before and after therapy. Patients were also questioned regarding the sensation of bladder filling. Results: From 1985 to 2006, 372 patients with an average age of 5.5 years (range 0 to 43) had followup information available and were included for evaluation. Patients received a median of 29 treatment sessions (range 2 to 197). Mean patient followup was 6.6 years (range 0 to 19.7). Of the 372 patients 286 (76.9%) had a 20% or greater increase in bladder capacity after treatment. In this subset of patients bladder storage pressure at capacity was normal (less than 40 cm water) in 74.4% (213 of 286). Of the 17.2% of patients (64 of 372) who had no change in bladder capacity 81.21% (52 of 64) had normal bladder storage pressures after treatment. Bladder sensation was developed and sustained in 61.6% of patients (229 of 372), including 33.6% in the first series. Conclusions: Bladder stimulation is effective for increasing bladder capacity without increasing storage pressure in a majority of patients. This technique is safe and effective for improving bladder compliance. Some patients also have improved sensation of bladder filling and they should be able to catheterize when feeling full rather than by the clock.

The Journal of Urology, Apr 1, 2004

Human Reproduction, Jul 24, 2015

What are the genetic loci that increase susceptibility to nonsyndromic cryptorchidism, or undesce... more What are the genetic loci that increase susceptibility to nonsyndromic cryptorchidism, or undescended testis? summary answer: A genome-wide association study (GWAS) suggests that susceptibility to cryptorchidism is heterogeneous, with a subset of suggestive signals linked to cytoskeleton-dependent functions and syndromic forms of the disease. what is known already: Population studies suggest moderate genetic risk of cryptorchidism and possible maternal and environmental contributions to risk. Previous candidate gene analyses have failed to identify a major associated locus, although variants in insulin-like 3 (INSL3), relaxin/insulin-like family peptide receptor 2 (RXFP2) and other hormonal pathway genes may increase risk in a small percentage of patients. study design, size, duration: This is a case-control GWAS of 844 boys with nonsyndromic cryptorchidism and 2718 control subjects without syndromes or genital anomalies, all of European ancestry. participants/materials, setting, methods: All boys with cryptorchidism were diagnosed and treated by a pediatric specialist. In the discovery phase, DNA was extracted from tissue or blood samples and genotyping performed using the Illumina HumanHap550 and Human610-Quad (Group 1) or OmniExpress (Group 2) platform. We imputed genotypes genome-wide, and combined single marker association results in meta-analyses for all cases and for secondary subphenotype analyses based on testis position, laterality and age, and defined genome-wide significance as P ¼ 7 × 10 29 to correct for multiple testing. Selected markers were genotyped in an independent replication group of European cases (n ¼ 298) and controls (n ¼ 324). We used several bioinformatics tools to analyze top (P , 10 25) and suggestive (P , 10 23) signals for significant enrichment of signaling pathways, cellular functions and custom gene lists after multiple testing correction. main results and the role of chance: In the full analysis, we identified 20 top loci, none reaching genome-wide significance, but one passing this threshold in a subphenotype analysis of proximal testis position (rs55867206, near SH3PXD2B, odds ratio ¼ 2.2 (95% confidence interval 1.7, 2.9), P ¼ 2 × 10 29). An additional 127 top loci emerged in at least one secondary analysis, particularly of more severe phenotypes.

The Journal of Urology, Oct 1, 2012

Introduction: Posterior Urethral Valves (PUV) constitute the most common infravesical urinary obs... more Introduction: Posterior Urethral Valves (PUV) constitute the most common infravesical urinary obstruction in boys. Bladder dysfunction, the pattern of which changes with the age and is common cause of morbidity in PUV patients. Urodynamic study provides a useful tool to identify the bladder dysfunction and allow timely and appropriate management. The aim of this study was to determine the efficacy of early use of bladder relaxant (oxybutynin) on urodynamic parameters in PUV patients and to compare our results with other authors. Material and Methods: Patients with posterior urethral valves more than 4 years of age were included in the study. After the diagnosis, oxybutynin was started prophylactically in all patients. Invasive urodynamic study was done in all patients minimum one year after start of oxybutynin. Bladder relaxant (oxybutynin) was stopped 48 hours before the study. Various urodynamic parameters which were noted in each patient include compliance, bladder stability (normal/overactivity), bladder capacity, detrusor pressure during voiding (sustained, waxing and waning or myogenic failure), detrusor sphincter dysynergia and post void residue. Results: 47 patients were included in the study. Age of patients ranged from 4 years to 14.8 years with mean age of 8.4 years. Normal detrusor pressure during filling (stable bladder) was seen in 95.7% of patients, bladder overactivity in 4.3% of patients, compliance (compliance good in 89.4% and compliance poor in 6.4%), bladder capacity (normal (70.2%), decreased (10.6%) and increased (19.1%), detrusor pressure during voiding (sustained (68.1%), waxing and waning (21.3%) and myogenic failure (10.6%)). Conclusion: Early use of oxybutynin immediately after the diagnosis of PUV, improves the urodynamic parameters in these patients possibly because of protective effect of oxybutynin on bladder function and structure.

The Journal of Urology, Sep 1, 2012

Failed pyeloplasty represents a management dilemma, with treatment options including balloon dila... more Failed pyeloplasty represents a management dilemma, with treatment options including balloon dilation, endopyelotomy and reoperative pyeloplasty. We review our experience with robot-assisted laparoscopic reoperative repair of recurrent/persistent ureteropelvic junction obstruction in children and compare this method to other approaches. We reviewed in detail all cases of failed prior ureteropelvic junction procedures, either open or laparoscopic, managed by robot-assisted laparoscopic reoperative repair between 2006 and July 2011. Robot-assisted laparoscopic repair was performed in 16 cases for persistent or recurrent ureteropelvic junction obstruction following a prior procedure involving the ureteropelvic junction (12 open pyeloplasties, 4 robot-assisted laparoscopic repairs). Additional interventions had been performed in 12 patients. Reoperative robot-assisted laparoscopic pyeloplasty was performed in 13 patients and reoperative robot-assisted laparoscopic ureterocalycostomy in 3. Patient age ranged from 12 months to 15.3 years (mean 6.1 years). Mean operative time and length of stay were 303 minutes and 1.6 days, respectively. Mean followup was 14.9 months. All symptomatic patients had resolution of symptoms postoperatively. A total of 14 patients (88%) had improved radiological findings. One patient underwent transfusion and conversion to an open procedure due to bleeding. Robot-assisted laparoscopic reoperative repair of persistent/recurrent ureteropelvic junction obstruction is a safe, highly effective procedure even in the setting of multiple prior procedures. In our series all patients improved symptomatically, 88% improved radiographically and none have required further surgical intervention. Success is greater than with endopyelotomy and comparable to open reoperative repair for this challenging condition during short-term and intermediate followup.

The Journal of Urology, Apr 1, 2010

Clinical Pediatric Emergency Medicine, Mar 1, 2009

Boys frequently present to the emergency department with the chief complaint of acute or chronic ... more Boys frequently present to the emergency department with the chief complaint of acute or chronic scrotal swelling. The emergency physician is often able to make a diagnosis based on history and physical examination alone; however, adjunctive imaging can be helpful in determining the etiology in equivocal cases. This article reviews the anatomical considerations in the pediatric patient, which predispose to the development of scrotal masses. In addition, it reviews the diagnosis and treatment of common scrotal masses, including inguinal hernias and hydroceles, and provides tips to distinguish between simple, communicating, and cord hydroceles. More unusual pediatric diagnoses, such as varicoceles and scrotal and testicular tumors, are also discussed, along with indications for urgent or emergent referral to a pediatric surgeon or urologist.

Journal of Pediatric Urology, Oct 1, 2019

Conclusion Robotic mobilization of the intra-abdominal vagina in a pediatric patient with US and ... more Conclusion Robotic mobilization of the intra-abdominal vagina in a pediatric patient with US and ARM is technically feasible and can be accomplished safely. Further comparative studies to other approaches are lacking. In this case, the robot allowed for good visualization, intra-operative collaboration between multiple specialties for complex patients with aberrant anatomy, and easy dissection in a narrow pre-pubertal pelvis and would be an approach that the study group uses in future cases. Please cite this article as: Phillips MR et al., Robot-assisted repair of a urogenital sinus with an anorectal malformation in a patient with

BJUI, Jul 1, 2009

To report our experience with ligation of the bulbar urethra for treating refractory stress incon... more To report our experience with ligation of the bulbar urethra for treating refractory stress incontinence in a selected group of young men with neuropathic bladders secondary to myelomeningocele (MM), in whom primary anti-incontinence procedures had failed. Persistent urethral incontinence leading to chronic perineal skin ulceration can occur in these patients, despite aggressive medical and surgical efforts to decrease wetting by increasing bladder capacity, compliance and outlet resistance. Four young men with MM had bulbar urethral ligation; all had undergone a previous ileocystoplasty and functioning continent catheterizable channels (CCC, three appendicovesicostomies, one Monti procedure). Three patients had primary bladder neck procedures using rectus fascia slings, and secondary attempts were made at urethral bulking in two patients. All patients had persistent incontinence through their native urethra, with dry intervals of <2 h. The bulbar urethra was ligated through a small midline perineal incision at 1 year after augmentation, and successfully resolved incontinence in all four patients. All reported satisfaction with their bladder regimen at a mean (range) follow-up of 49 (20-93) months. There were no perineal wound infections. While one patient developed bladder calculi, no patient developed urethral stones, febrile urinary tract infections, fistulae or bladder perforations. We report the results of bulbar urethral ligation for resolution of incontinence in patients with MM in whom anti-incontinence bladder neck procedures had failed. Ligation of the urethra is effective, and can be considered an alternative treatment for refractory urinary incontinence in patients with a functional CCC in whom previous bladder neck-supporting procedures have failed.

European Urology Supplements, Feb 1, 2004

Birth Defects Research, Oct 18, 2012

Background-Genetic and environmental factors likely influence susceptibility to nonsyndromic cryp... more Background-Genetic and environmental factors likely influence susceptibility to nonsyndromic cryptorchidism, a common disease presenting at birth or in later childhood. We compared cases and controls to define differential risk factors for congenital vs. acquired cryptorchidism. Methods-We compared questionnaire and clinical data from cases of congenital cryptorchidism (n=230), acquired cryptorchidism (n=182) and hernia/hydrocele (n=104) with a group of healthy male controls (n=358). Potential predictor variables (p<0.2 in univariable analysis) were included in stepwise multivariable logistic regression models. Results-Temporary (odds ratio (OR) 0.5; 95% CI 0.4, 0.8) or exclusive (OR 0.6; 95% CI 0.4, 0.9) breastfeeding was reduced and soy formula feeding increased (OR 1.8; 95% CI 1.2, 2.9) in acquired but not congenital or hernia/hydrocele groups. Highest risk estimates were observed for primary soy formula feeding with limited or no breastfeeding (OR 2.5; 95% CI 1.4, 4.3; adjusted OR 2.7; 95% CI 1.4, 5.4) in the acquired group. Primary feeding risk estimates were equivalent or strengthened when multivariable models were limited to age >2 years, full term/non-SGA or Caucasian subjects. Pregnancy complications and increased maternal exposure to cosmetic or household chemicals were not consistently associated with either form of cryptorchidism in these models. Conclusions-Our data support reduced breastfeeding and soy formula feeding as potential risk factors for acquired cryptorchidism. Although additional studies are needed, hormonally-active components of breast milk and soy formula could influence the establishment of normal testis position in the first months of life, leading to apparent ascent of testes in childhood.

Urology, Jun 1, 2022

OBJECTIVE To review the evaluation and management of urologic pathology related to mitochondiral ... more OBJECTIVE To review the evaluation and management of urologic pathology related to mitochondiral diseases (MD) in childhood. METHODS A retrospective review was performed of patients with MD from 1/1/2000 - 10/8/2020 who were referred for urologic evaluation at a single childrens hospital. Clinical and demographic information was reviewed including symptomatology, urodynamic evaluation, and medical/surgical management. RESULTS 15 patients were identified for inclusion. Median age of presentation was 5 years and median follow up was 4 years. Patients presented with numerous urologic complaints including urinary retention/incomplete emptying, incontinence, and recurrent urinary tract infection. Urodynamics demonstrated elevated median bladder capacity at 172% of expected as calculated by age. Detrusor sphincter dyssynergia (DSD) was present in 6 (50%). Progression to surgical intervention occurred in 67% at a median time of 3.5 years after initial referral. This included suprapubic tube (SPT) placement and sacral neuromodulation (SNM). CONCLUSIONS Patients in this study were found to have a spectrum of lower urinary tract dysfunction (LUTD) with elevated bladder capacity being common. No singular urodynamic feature prevailed although DSD was found in 50%. Progression of symptoms over time was also common. Most patients (67%) did go on to surgical intervention including SPT and SNM. Clinicians should be aware of the possibility of LUTD in children with MD and they should be promptly referred to pediatric urology when LUTD is suspected.

A common pediatric dilemma involves management of children with recurrent febrile urinary tract i... more A common pediatric dilemma involves management of children with recurrent febrile urinary tract infections (UTIs) who have normal voiding cystourethrograms. Vesicoureteral reflux (VUR) has been demonstrated in such cases by performing a cystogram which positions the instillation of contrast (PIC) at the ureteral orifice. We describe the evidence supporting this diagnostic test. Materials and Methods. The literature was searched to identify and subsequently evaluate all studies investigating PIC cystography. Results. In patients with febrile UTIs and negative VCUGs, the PIC cystogram has been demonstrated to identify occult reflux (PIC-VUR). When identified and treated, these patients have a significant reduction in the incidence of febrile UTIs. Conclusions. Although the current literature on PIC cystography is limited, it appears to be a clinically useful test in a select group of patients with recurrent febrile UTIs, that are not found to have VUR on a conventional VCUG. A prospective randomized trial is underway to further define its role in the treatment algorithm of febrile UTIs.

The Journal of Urology, Oct 1, 2009

Autologous sources of bone marrow mesenchymal stem cells and endothelial progenitor cells are att... more Autologous sources of bone marrow mesenchymal stem cells and endothelial progenitor cells are attractive alternatives to cells currently used for bladder tissue regeneration. To evaluate the potential use of these cells we determined whether mesenchymal stem cells have contractile protein profiles and physiological functions similar to those of normal bladder smooth muscle cells, and determined the angiogenic potential of endothelial progenitor cells. Mesenchymal stem cells and smooth muscle cells (Lonza, Gaithersburg, Maryland) underwent proliferation and Western blot analyses. Immunofluorescence imaging was performed using antibodies against smooth muscle cell epitopes. Contractility was assessed by intracellular Ca(2+) release assays and confocal microscopy after carbachol stimulation. Endothelial progenitor cells were evaluated using a chicken chorioallantoic membrane model to determine neo-angiogenic potential. Western blot and immunofluorescence data showed that mesenchymal stem cells endogenously expressed known smooth muscle cell contractile proteins at levels similar to those of smooth muscle cells. Ca(2+) release assays revealed that smooth muscle cells and mesenchymal stem cells responded to carbachol treatment with a mean +/- SD of 8.6 +/- 2.5 and 5.8 +/- 0.8 RFU, respectively, which was statistically indistinguishable. Proliferation trends of mesenchymal stem cells and control smooth muscle cells were also similar. Chorioallantoic membrane assay showed the growth of vasculature derived from endothelial progenitor cells. Data demonstrate that mesenchymal stem cells and smooth muscle cells express the same contractile proteins and can function similarly in vitro. Endothelial progenitor cells also have the ability to form vasculature in an in vivo chorioallantoic membrane model. These findings provide evidence that mesenchymal stem cells and endothelial progenitor cells have characteristics that may be applicable for bladder tissue regeneration.

Urology, May 1, 2019

Inverted-Y ureteral duplication is one of the rarest anomalies of ureteral branching, which has b... more Inverted-Y ureteral duplication is one of the rarest anomalies of ureteral branching, which has been found to be more prevalent in females. 2 Females commonly present with urinary incontinence often associated with distal limb ectopia to the bladder neck, uterus, or vagina. 2 We present the case of a 7-year-old female with intermittent urinary incontinence who was found to have an inverted-Y ureteral duplication with perianal ectopia. We highlight the role of Magnetic Resonance Urography in the evaluation of females with urinary incontinence and a normal renal/bladder ultrasound who are refractory to behavioral therapy.

Urology, May 1, 2019

Inverted-Y ureteral duplication is one of the rarest anomalies of ureteral branching, which has b... more Inverted-Y ureteral duplication is one of the rarest anomalies of ureteral branching, which has been found to be more prevalent in females. 2 Females commonly present with urinary incontinence often associated with distal limb ectopia to the bladder neck, uterus, or vagina. 2 We present the case of a 7-year-old female with intermittent urinary incontinence who was found to have an inverted-Y ureteral duplication with perianal ectopia. We highlight the role of Magnetic Resonance Urography in the evaluation of females with urinary incontinence and a normal renal/bladder ultrasound who are refractory to behavioral therapy.

Urology, Feb 1, 2009

Congenital bladder diverticula are rare anomalies of the bladder. Patients present with infection... more Congenital bladder diverticula are rare anomalies of the bladder. Patients present with infection, hematuria, and/or urinary obstruction. We report on the case of a 12-year-old boy who developed gross hematuria and recurrent infection owing to a 12-cm bladder diverticulum. Robotic-assisted laparoscopic diverticulectomy was performed. We describe the first reported robotic-assisted laparoscopic diverticulectomy in a pediatric patient.

Urology, May 1, 2000

The efficacy of finasteride in the treatment of gross hematuria associated with benign prostatic ... more The efficacy of finasteride in the treatment of gross hematuria associated with benign prostatic hyperplasia is well established. We evaluated a regimen of pretreatment with finasteride in decreasing perioperative bleeding associated with transurethral resection of the prostate (TURP). A prospective analysis compared 25 patients pretreated with finasteride for 2 to 4 months before TURP with 50 patients without pretreatment. Patients in each group were further separated by the amount of prostate tissue resected. Patients were then followed up for perioperative bleeding, defined as a perioperative blood transfusion requirement or a return visit to the emergency room with gross hematuria or clot retention. None of the patients with less than 30 g of prostate tissue resected experienced perioperative bleeding. In patients with 30 g or more resected, several episodes of bleeding occurred. In the patients pretreated with finasteride, 1 (8.3%) of 12 experienced perioperative bleeding; in the control group, 7 (36.8%) of 19 had an episode of bleeding. In patients with large prostate glands undergoing TURP, pretreatment with finasteride appears useful in reducing perioperative bleeding.

The Journal of Urology, Apr 1, 2008

RESULTS: Fifty four (77%) of the 70 patients had a positive study. Positive predictors were imagi... more RESULTS: Fifty four (77%) of the 70 patients had a positive study. Positive predictors were imaging showing PN (100%), prior when one or more of these risk factors was present. Of the 16 patients in one each. In the remaining 12 with negative studies we could never

The Journal of Urology, Oct 1, 2007

Intravesical electrotherapy was previously shown to be effective for improving bladder capacity a... more Intravesical electrotherapy was previously shown to be effective for improving bladder capacity and compliance. We evaluated our 22-year experience with this therapy in patients with neurogenic bladder. Materials and Methods: The charts of 405 patients who received intravesical electrotherapy were reviewed. Cystometrograms were performed at the start of each treatment series. Bladder capacity and pressure were determined for each patient before and after therapy. Patients were also questioned regarding the sensation of bladder filling. Results: From 1985 to 2006, 372 patients with an average age of 5.5 years (range 0 to 43) had followup information available and were included for evaluation. Patients received a median of 29 treatment sessions (range 2 to 197). Mean patient followup was 6.6 years (range 0 to 19.7). Of the 372 patients 286 (76.9%) had a 20% or greater increase in bladder capacity after treatment. In this subset of patients bladder storage pressure at capacity was normal (less than 40 cm water) in 74.4% (213 of 286). Of the 17.2% of patients (64 of 372) who had no change in bladder capacity 81.21% (52 of 64) had normal bladder storage pressures after treatment. Bladder sensation was developed and sustained in 61.6% of patients (229 of 372), including 33.6% in the first series. Conclusions: Bladder stimulation is effective for increasing bladder capacity without increasing storage pressure in a majority of patients. This technique is safe and effective for improving bladder compliance. Some patients also have improved sensation of bladder filling and they should be able to catheterize when feeling full rather than by the clock.

The Journal of Urology, Apr 1, 2004

Human Reproduction, Jul 24, 2015

What are the genetic loci that increase susceptibility to nonsyndromic cryptorchidism, or undesce... more What are the genetic loci that increase susceptibility to nonsyndromic cryptorchidism, or undescended testis? summary answer: A genome-wide association study (GWAS) suggests that susceptibility to cryptorchidism is heterogeneous, with a subset of suggestive signals linked to cytoskeleton-dependent functions and syndromic forms of the disease. what is known already: Population studies suggest moderate genetic risk of cryptorchidism and possible maternal and environmental contributions to risk. Previous candidate gene analyses have failed to identify a major associated locus, although variants in insulin-like 3 (INSL3), relaxin/insulin-like family peptide receptor 2 (RXFP2) and other hormonal pathway genes may increase risk in a small percentage of patients. study design, size, duration: This is a case-control GWAS of 844 boys with nonsyndromic cryptorchidism and 2718 control subjects without syndromes or genital anomalies, all of European ancestry. participants/materials, setting, methods: All boys with cryptorchidism were diagnosed and treated by a pediatric specialist. In the discovery phase, DNA was extracted from tissue or blood samples and genotyping performed using the Illumina HumanHap550 and Human610-Quad (Group 1) or OmniExpress (Group 2) platform. We imputed genotypes genome-wide, and combined single marker association results in meta-analyses for all cases and for secondary subphenotype analyses based on testis position, laterality and age, and defined genome-wide significance as P ¼ 7 × 10 29 to correct for multiple testing. Selected markers were genotyped in an independent replication group of European cases (n ¼ 298) and controls (n ¼ 324). We used several bioinformatics tools to analyze top (P , 10 25) and suggestive (P , 10 23) signals for significant enrichment of signaling pathways, cellular functions and custom gene lists after multiple testing correction. main results and the role of chance: In the full analysis, we identified 20 top loci, none reaching genome-wide significance, but one passing this threshold in a subphenotype analysis of proximal testis position (rs55867206, near SH3PXD2B, odds ratio ¼ 2.2 (95% confidence interval 1.7, 2.9), P ¼ 2 × 10 29). An additional 127 top loci emerged in at least one secondary analysis, particularly of more severe phenotypes.

The Journal of Urology, Oct 1, 2012

Introduction: Posterior Urethral Valves (PUV) constitute the most common infravesical urinary obs... more Introduction: Posterior Urethral Valves (PUV) constitute the most common infravesical urinary obstruction in boys. Bladder dysfunction, the pattern of which changes with the age and is common cause of morbidity in PUV patients. Urodynamic study provides a useful tool to identify the bladder dysfunction and allow timely and appropriate management. The aim of this study was to determine the efficacy of early use of bladder relaxant (oxybutynin) on urodynamic parameters in PUV patients and to compare our results with other authors. Material and Methods: Patients with posterior urethral valves more than 4 years of age were included in the study. After the diagnosis, oxybutynin was started prophylactically in all patients. Invasive urodynamic study was done in all patients minimum one year after start of oxybutynin. Bladder relaxant (oxybutynin) was stopped 48 hours before the study. Various urodynamic parameters which were noted in each patient include compliance, bladder stability (normal/overactivity), bladder capacity, detrusor pressure during voiding (sustained, waxing and waning or myogenic failure), detrusor sphincter dysynergia and post void residue. Results: 47 patients were included in the study. Age of patients ranged from 4 years to 14.8 years with mean age of 8.4 years. Normal detrusor pressure during filling (stable bladder) was seen in 95.7% of patients, bladder overactivity in 4.3% of patients, compliance (compliance good in 89.4% and compliance poor in 6.4%), bladder capacity (normal (70.2%), decreased (10.6%) and increased (19.1%), detrusor pressure during voiding (sustained (68.1%), waxing and waning (21.3%) and myogenic failure (10.6%)). Conclusion: Early use of oxybutynin immediately after the diagnosis of PUV, improves the urodynamic parameters in these patients possibly because of protective effect of oxybutynin on bladder function and structure.

The Journal of Urology, Sep 1, 2012

Failed pyeloplasty represents a management dilemma, with treatment options including balloon dila... more Failed pyeloplasty represents a management dilemma, with treatment options including balloon dilation, endopyelotomy and reoperative pyeloplasty. We review our experience with robot-assisted laparoscopic reoperative repair of recurrent/persistent ureteropelvic junction obstruction in children and compare this method to other approaches. We reviewed in detail all cases of failed prior ureteropelvic junction procedures, either open or laparoscopic, managed by robot-assisted laparoscopic reoperative repair between 2006 and July 2011. Robot-assisted laparoscopic repair was performed in 16 cases for persistent or recurrent ureteropelvic junction obstruction following a prior procedure involving the ureteropelvic junction (12 open pyeloplasties, 4 robot-assisted laparoscopic repairs). Additional interventions had been performed in 12 patients. Reoperative robot-assisted laparoscopic pyeloplasty was performed in 13 patients and reoperative robot-assisted laparoscopic ureterocalycostomy in 3. Patient age ranged from 12 months to 15.3 years (mean 6.1 years). Mean operative time and length of stay were 303 minutes and 1.6 days, respectively. Mean followup was 14.9 months. All symptomatic patients had resolution of symptoms postoperatively. A total of 14 patients (88%) had improved radiological findings. One patient underwent transfusion and conversion to an open procedure due to bleeding. Robot-assisted laparoscopic reoperative repair of persistent/recurrent ureteropelvic junction obstruction is a safe, highly effective procedure even in the setting of multiple prior procedures. In our series all patients improved symptomatically, 88% improved radiographically and none have required further surgical intervention. Success is greater than with endopyelotomy and comparable to open reoperative repair for this challenging condition during short-term and intermediate followup.

The Journal of Urology, Apr 1, 2010

Clinical Pediatric Emergency Medicine, Mar 1, 2009

Boys frequently present to the emergency department with the chief complaint of acute or chronic ... more Boys frequently present to the emergency department with the chief complaint of acute or chronic scrotal swelling. The emergency physician is often able to make a diagnosis based on history and physical examination alone; however, adjunctive imaging can be helpful in determining the etiology in equivocal cases. This article reviews the anatomical considerations in the pediatric patient, which predispose to the development of scrotal masses. In addition, it reviews the diagnosis and treatment of common scrotal masses, including inguinal hernias and hydroceles, and provides tips to distinguish between simple, communicating, and cord hydroceles. More unusual pediatric diagnoses, such as varicoceles and scrotal and testicular tumors, are also discussed, along with indications for urgent or emergent referral to a pediatric surgeon or urologist.

Journal of Pediatric Urology, Oct 1, 2019

Conclusion Robotic mobilization of the intra-abdominal vagina in a pediatric patient with US and ... more Conclusion Robotic mobilization of the intra-abdominal vagina in a pediatric patient with US and ARM is technically feasible and can be accomplished safely. Further comparative studies to other approaches are lacking. In this case, the robot allowed for good visualization, intra-operative collaboration between multiple specialties for complex patients with aberrant anatomy, and easy dissection in a narrow pre-pubertal pelvis and would be an approach that the study group uses in future cases. Please cite this article as: Phillips MR et al., Robot-assisted repair of a urogenital sinus with an anorectal malformation in a patient with

BJUI, Jul 1, 2009

To report our experience with ligation of the bulbar urethra for treating refractory stress incon... more To report our experience with ligation of the bulbar urethra for treating refractory stress incontinence in a selected group of young men with neuropathic bladders secondary to myelomeningocele (MM), in whom primary anti-incontinence procedures had failed. Persistent urethral incontinence leading to chronic perineal skin ulceration can occur in these patients, despite aggressive medical and surgical efforts to decrease wetting by increasing bladder capacity, compliance and outlet resistance. Four young men with MM had bulbar urethral ligation; all had undergone a previous ileocystoplasty and functioning continent catheterizable channels (CCC, three appendicovesicostomies, one Monti procedure). Three patients had primary bladder neck procedures using rectus fascia slings, and secondary attempts were made at urethral bulking in two patients. All patients had persistent incontinence through their native urethra, with dry intervals of &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;2 h. The bulbar urethra was ligated through a small midline perineal incision at 1 year after augmentation, and successfully resolved incontinence in all four patients. All reported satisfaction with their bladder regimen at a mean (range) follow-up of 49 (20-93) months. There were no perineal wound infections. While one patient developed bladder calculi, no patient developed urethral stones, febrile urinary tract infections, fistulae or bladder perforations. We report the results of bulbar urethral ligation for resolution of incontinence in patients with MM in whom anti-incontinence bladder neck procedures had failed. Ligation of the urethra is effective, and can be considered an alternative treatment for refractory urinary incontinence in patients with a functional CCC in whom previous bladder neck-supporting procedures have failed.

European Urology Supplements, Feb 1, 2004

Birth Defects Research, Oct 18, 2012

Background-Genetic and environmental factors likely influence susceptibility to nonsyndromic cryp... more Background-Genetic and environmental factors likely influence susceptibility to nonsyndromic cryptorchidism, a common disease presenting at birth or in later childhood. We compared cases and controls to define differential risk factors for congenital vs. acquired cryptorchidism. Methods-We compared questionnaire and clinical data from cases of congenital cryptorchidism (n=230), acquired cryptorchidism (n=182) and hernia/hydrocele (n=104) with a group of healthy male controls (n=358). Potential predictor variables (p<0.2 in univariable analysis) were included in stepwise multivariable logistic regression models. Results-Temporary (odds ratio (OR) 0.5; 95% CI 0.4, 0.8) or exclusive (OR 0.6; 95% CI 0.4, 0.9) breastfeeding was reduced and soy formula feeding increased (OR 1.8; 95% CI 1.2, 2.9) in acquired but not congenital or hernia/hydrocele groups. Highest risk estimates were observed for primary soy formula feeding with limited or no breastfeeding (OR 2.5; 95% CI 1.4, 4.3; adjusted OR 2.7; 95% CI 1.4, 5.4) in the acquired group. Primary feeding risk estimates were equivalent or strengthened when multivariable models were limited to age >2 years, full term/non-SGA or Caucasian subjects. Pregnancy complications and increased maternal exposure to cosmetic or household chemicals were not consistently associated with either form of cryptorchidism in these models. Conclusions-Our data support reduced breastfeeding and soy formula feeding as potential risk factors for acquired cryptorchidism. Although additional studies are needed, hormonally-active components of breast milk and soy formula could influence the establishment of normal testis position in the first months of life, leading to apparent ascent of testes in childhood.

Urology, Jun 1, 2022

OBJECTIVE To review the evaluation and management of urologic pathology related to mitochondiral ... more OBJECTIVE To review the evaluation and management of urologic pathology related to mitochondiral diseases (MD) in childhood. METHODS A retrospective review was performed of patients with MD from 1/1/2000 - 10/8/2020 who were referred for urologic evaluation at a single childrens hospital. Clinical and demographic information was reviewed including symptomatology, urodynamic evaluation, and medical/surgical management. RESULTS 15 patients were identified for inclusion. Median age of presentation was 5 years and median follow up was 4 years. Patients presented with numerous urologic complaints including urinary retention/incomplete emptying, incontinence, and recurrent urinary tract infection. Urodynamics demonstrated elevated median bladder capacity at 172% of expected as calculated by age. Detrusor sphincter dyssynergia (DSD) was present in 6 (50%). Progression to surgical intervention occurred in 67% at a median time of 3.5 years after initial referral. This included suprapubic tube (SPT) placement and sacral neuromodulation (SNM). CONCLUSIONS Patients in this study were found to have a spectrum of lower urinary tract dysfunction (LUTD) with elevated bladder capacity being common. No singular urodynamic feature prevailed although DSD was found in 50%. Progression of symptoms over time was also common. Most patients (67%) did go on to surgical intervention including SPT and SNM. Clinicians should be aware of the possibility of LUTD in children with MD and they should be promptly referred to pediatric urology when LUTD is suspected.

A common pediatric dilemma involves management of children with recurrent febrile urinary tract i... more A common pediatric dilemma involves management of children with recurrent febrile urinary tract infections (UTIs) who have normal voiding cystourethrograms. Vesicoureteral reflux (VUR) has been demonstrated in such cases by performing a cystogram which positions the instillation of contrast (PIC) at the ureteral orifice. We describe the evidence supporting this diagnostic test. Materials and Methods. The literature was searched to identify and subsequently evaluate all studies investigating PIC cystography. Results. In patients with febrile UTIs and negative VCUGs, the PIC cystogram has been demonstrated to identify occult reflux (PIC-VUR). When identified and treated, these patients have a significant reduction in the incidence of febrile UTIs. Conclusions. Although the current literature on PIC cystography is limited, it appears to be a clinically useful test in a select group of patients with recurrent febrile UTIs, that are not found to have VUR on a conventional VCUG. A prospective randomized trial is underway to further define its role in the treatment algorithm of febrile UTIs.

The Journal of Urology, Oct 1, 2009

Autologous sources of bone marrow mesenchymal stem cells and endothelial progenitor cells are att... more Autologous sources of bone marrow mesenchymal stem cells and endothelial progenitor cells are attractive alternatives to cells currently used for bladder tissue regeneration. To evaluate the potential use of these cells we determined whether mesenchymal stem cells have contractile protein profiles and physiological functions similar to those of normal bladder smooth muscle cells, and determined the angiogenic potential of endothelial progenitor cells. Mesenchymal stem cells and smooth muscle cells (Lonza, Gaithersburg, Maryland) underwent proliferation and Western blot analyses. Immunofluorescence imaging was performed using antibodies against smooth muscle cell epitopes. Contractility was assessed by intracellular Ca(2+) release assays and confocal microscopy after carbachol stimulation. Endothelial progenitor cells were evaluated using a chicken chorioallantoic membrane model to determine neo-angiogenic potential. Western blot and immunofluorescence data showed that mesenchymal stem cells endogenously expressed known smooth muscle cell contractile proteins at levels similar to those of smooth muscle cells. Ca(2+) release assays revealed that smooth muscle cells and mesenchymal stem cells responded to carbachol treatment with a mean +/- SD of 8.6 +/- 2.5 and 5.8 +/- 0.8 RFU, respectively, which was statistically indistinguishable. Proliferation trends of mesenchymal stem cells and control smooth muscle cells were also similar. Chorioallantoic membrane assay showed the growth of vasculature derived from endothelial progenitor cells. Data demonstrate that mesenchymal stem cells and smooth muscle cells express the same contractile proteins and can function similarly in vitro. Endothelial progenitor cells also have the ability to form vasculature in an in vivo chorioallantoic membrane model. These findings provide evidence that mesenchymal stem cells and endothelial progenitor cells have characteristics that may be applicable for bladder tissue regeneration.