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BACKGROUND: Vaginal reconstruction with autologous buccal mucosa graft offers a promising alternative to the use of skin grafts and vascularized intestinal segments. Given the novelty of this procedure, the optimal approach to postoperative wound management remains unclear with current practices often requiring many months of vaginal stents/molds. This study aims to evaluate a newly developed negative pressure intravaginal wound vacuum placed at the conclusion of the vaginoplasty with the goals of facilitating graft take and healing. METHODS: A retrospective review of patients (age 12-21 years) who underwent eight primary and secondary vaginoplasty procedures using autologous buccal mucosa coupled with intravaginal wound vacuum placement was performed. RESULTS: Vaginal reconstruction with fenestrated full-thickness buccal mucosa graft and intravaginal wound vacuum placement was successfully performed eight times in seven patients at a median age of 15.6 years. Four patients underwent robotic vaginal pull-through with buccal mucosa serving as an interposition graft, and four patients underwent vaginoplasty with buccal graft alone. All cases had excellent engraftment at time of wound vacuum removal on postoperative day seven and had healthy-appearing buccal mucosa at a mean follow-up of 148 days. Postoperatively, one patient developed a stricture at the anastomosis between native vagina and buccal mucosa graft, requiring a second buccal mucosa graft six months after the first operation. CONCLUSIONS: The use of autologous buccal mucosa graft for primary and secondary vaginal reconstruction coupled with intravaginal wound vacuum therapy offers a promising new approach. Negative pressure wound vacuum therapy may provide a more optimal wound healing environment for improved outcomes. TYPE OF STUDY: Retrospective Study LEVELS OF EVIDENCE: Level IV.
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Tratamento de Ferimentos com Pressão Negativa , Procedimentos de Cirurgia Plástica , Adolescente , Adulto , Criança , Feminino , Procedimentos Cirúrgicos em Ginecologia/métodos , Humanos , Mucosa Bucal/transplante , Procedimentos de Cirurgia Plástica/métodos , Estudos Retrospectivos , Vagina/cirurgia , Adulto JovemRESUMO
Congenital anorectal malformations are generally diagnosed and repaired as a neonate or infant, but repair is sometimes delayed. Considerations for operative repair change as the patient approaches full stature. We recently encountered a 17-year-old male with an unrepaired congenital rectourethral fistula and detail our experience with his repair. We elected to utilize a combined abdominal and perineal approach, with robotic assistance for division of his rectourethral fistula and pullthrough anoplasty. Cystoscopy was used simultaneously to assure full dissection of the fistula and to minimize the risk of leaving a remnant of the original fistula (also known as a posterior urethral diverticulum). The procedure was well tolerated without complications. His anoplasty was evaluated 60 days postoperatively and was well healed without stricture. At 9 months of follow-up, he has good fecal and urinary continence. Robotic assistance in this procedure allowed minimal perineal dissection while ensuring precise rectourethral fistula dissection. The length of the intramural segment of the fistula was longer than anticipated. Simultaneous cystoscopy, in conjunction with the integrated robotic fluorescence system, helped reduce the risk of leaving a remnant of the original fistula.
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Currently accepted primary repair of congenital anorectal malformations (ARMs) includes a posterior sagittal incision, which allows for optimal visualization and identification of important pelvic structures and anatomical features. Reconstructive surgery involves meticulous dissection and separation of pelvic structures, and careful reconstruction can result in good functional outcomes for many patients, who live without ongoing sequelae from their malformation. However, some patients may require reoperative procedures for anatomic or functional reasons. Males and females present with slightly different symptoms and should be approached differently. Males are most likely to require reoperations for anorectal or urethral pathologies, but the urinary system is often spared in females-they instead must contend with Mullerian duct anomalies, of which there are many varieties. Depending on the original malformation and severity of symptoms, redo surgery may be needed to optimize function and quality of life. Surgical management with reoperative surgery in ARMs ranges from straightforward to complex, depending on the issue. One must weigh the risks of reoperative surgery and potentially creating more scarring against the need for a better anatomical and functional outcome. Current management trends and practice patterns with regards to reoperative surgery in ARM patients are not widely studied or standardized but we provide an overview of the more common pathologies, preoperative evaluation and workup required to identify the issues, and options for reoperative repair in these patients.
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INTRODUCTION: Understanding details of anatomic relationships between the colon and surrounding structures is a critical piece of preoperative planning prior to surgical repair of anorectal malformations (ARMs). Traditional imaging techniques involve ionizing radiation, distention of the rectum with supraphysiologic intraluminal pressures, and sometimes require sedation. Recent developments in the field of contrast agents have allowed the emergence of an ultrasound-based technique that can avoid these requirements while continuing to provide high resolution structural information in three dimensions. METHODS: Fourteen children (13 male, 1 female, age 1-11â¯months) with ARMs underwent contrast enhanced colostography (ceCS) in addition to traditional preoperative imaging techniques to delineate anatomic relationships of pelvic structures. RESULTS: ceCS and traditional imaging yielded concordant anatomic information, including structural relationships and fistulous connections, in 10/14 patients (71%). ceCS detected fistulous connection in 2/13 patients (15%) that were not seen by traditional imaging. Ultrasonography failed to detect the fistulous connection in one patient. CONCLUSIONS: ceCS is a safe, effective and flexible method for defining important structural information in ARM patients. When compared with traditional methods, it provided equivalent or superior results 93% of the time and bears consideration as a standard tool in preoperative planning for this population. TYPE OF STUDY: Retrospective Comparative Study. LEVEL OF EVIDENCE: Level III.
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Malformações Anorretais , Fístula Retal/diagnóstico por imagem , Canal Anal/diagnóstico por imagem , Malformações Anorretais/diagnóstico por imagem , Meios de Contraste , Feminino , Fluoroscopia , Humanos , Lactente , Masculino , Reto/diagnóstico por imagem , Reto/cirurgia , Estudos Retrospectivos , Ultrassonografia/métodosRESUMO
Introduction: Cloaca malformation repair strategy is strongly dictated by common channel and urethral lengths. Mid to long common channel cloacas are challenging and often require laparotomy for dissection of pelvic structures. The balance of common channel and urethral lengths often dictates the approach for reconstruction. Laparoscopy has been utilized for rectal dissection but not for management of the urogenital (UG) structures. We hypothesized that laparoscopy could be applied to UG separation in reconstruction of cloaca malformations. Methods: Records were reviewed for 9 children with cloaca who underwent laparoscopic rectal mobilization and UG separation. Clinical parameters reviewed included demographics, relevant anatomic lengths, operative duration, transfusion requirements, and perioperative complications. Results: Repair was perfomed at a median (interquartile range) age of 12 (7, 15) months. Common channel length as measured by cystoscopy was 3.5 (3.3, 4.5) cm. There were no intraoperative complications. Transfusion requirements were minimal. Postoperative length of stay was 6 (5, 11) days. One patient developed a urethral web and 2 developed vaginal stenosis. One patient later underwent a laparotomy for obstruction due to a twisted rectal pull-through. Conclusions: Laparoscopic rectal mobilization and UG separation in long common channel cloaca are safe and well tolerated. Laparoscopy affords full evaluation of Mullerian structures and enables separation of the common UG wall, which may ultimately enhance long-term urinary continence.
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Cloaca/cirurgia , Laparoscopia/métodos , Reto/cirurgia , Uretra/cirurgia , Procedimentos Cirúrgicos Urológicos/métodos , Feminino , Humanos , Lactente , Masculino , Estudos RetrospectivosRESUMO
BACKGROUND: During the COVID-19 crisis, there has been widespread reporting that non-COVID-19-related medical care has been delayed, even for emergent conditions. Testicular torsion is an emergent condition with higher risk of testicular loss with longer ischemic times. We sought to investigate whether patients with testicular torsion had longer time from symptom onset to initial presentation, longer total ischemic time, and higher rate of orchiectomy during the pandemic. MATERIALS AND METHODS: Using billing data, we identified all patients age >1yo seen in our hospital from 1/1/2018 through 5/31/2020 who underwent emergent scrotal exploration for confirmed testicular torsion, comparing the COVID-19 crisis (3/1/2020-5/31/20) to the pre-COVID-19 period (1/1/2018-2/29/20). The primary outcome was time from symptom onset to initial presentation and secondary outcomes were ischemic time (time from symptom onset to entry of the OR) and orchiectomy rate. Parameters were compared with Mann-Whitney U and Fisher's exact tests; Poisson regression compared rates of torsion. RESULTS: Of 94 total cases, 77 occurred during the pre-COVID-19 period and 17 during the COVID-19 crisis. Median time from symptom onset to initial presentation was not significantly different (2.4 h [IQR 1.1 h-38.9] during COVID-19 vs. 5.6 h [IQR 1.6-16.9] during pre-COVID-19 period, p = 0.476). Time to presentation was >12 h in 5/17 patients (29%) during COVID-19 and 24/77 patients (31%) during pre-COVID-19 period (p = 1.00). Median ischemic time during COVID-19 was 7.5 h (IQR 4.7 h-45.5 h) compared to 9.4 h (IQR 5.4 h-22.5 h) during pre-COVID-19 period (p = 0.694). Incidence of orchiectomy in our center was 29% (5/17) during COVID-19 and 17% (13/77) during pre-COVID-19 period (p = 0.397). About half of patients were seen initially at outside facilities prior to arrival (47% [8/17] during COVID-19 vs. 49% [38/77] during pre-COVID-19 period, p = 1.00). The number of torsion case presentations per week to our facility increased from 0.7 cases/week in the pre-COVID-19 period to 1.3 cases/week during COVID-19 (p = 0.015); when comparing only the March 1 to May 31 calendar period, there were 0.6 cases/week during the pre-COVID-19 period and 1.3 cases/week during COVID-19 (p = 0.021). CONCLUSION: Time to presentation, ischemic times, and orchiectomy rates for testicular torsion at our center were not significantly different during the COVID-19 period compared to the preceding 2 year period. The number of torsion case per week presenting to our facility increased significantly.
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COVID-19/epidemiologia , Orquiectomia/métodos , Pandemias , Torção do Cordão Espermático/cirurgia , Adolescente , Criança , Pré-Escolar , Comorbidade , Humanos , Lactente , Masculino , Estudos Retrospectivos , SARS-CoV-2 , Torção do Cordão Espermático/epidemiologia , Fatores de Tempo , Estados Unidos/epidemiologia , Adulto JovemRESUMO
Mabry syndrome is a glycophosphatidylinositol (GPI) deficiency characterized by intellectual disability, distinctive facial features, intractable seizures, and hyperphosphatasia. We expand the phenotypic spectrum of inherited GPI deficiencies with novel bi-allelic phosphatidylinositol glycan anchor biosynthesis class O (PIGO) variants in a neonate who presented with intractable epilepsy and complex gastrointestinal and urogenital malformations.
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Anormalidades Múltiplas/genética , Epilepsia Resistente a Medicamentos/genética , Glicosilfosfatidilinositóis/deficiência , Deficiência Intelectual/genética , Proteínas de Membrana/genética , Distúrbios do Metabolismo do Fósforo/genética , Anormalidades Urogenitais/genética , Feminino , Trato Gastrointestinal/anormalidades , Variação Genética , Humanos , Recém-Nascido , FenótipoAssuntos
Assistência Ambulatorial/métodos , Analgésicos Opioides/uso terapêutico , Urologia/normas , Boston , Criança , Pré-Escolar , Feminino , Previsões , Hospitais Pediátricos , Humanos , Masculino , Pacientes Ambulatoriais/estatística & dados numéricos , Pediatria , Padrões de Prática Médica/normas , Padrões de Prática Médica/tendências , Medição de Risco , Urologia/tendênciasRESUMO
Purpose To retrospectively define the strength of association between testicular microlithiasis and testicular neoplasia in a large geographically diverse pediatric population. Materials and Methods Retrospective review of scrotal ultrasonographic (US) examination reports and pathology specimens obtained between January 2000 and May 2014 at six academic pediatric hospitals in North America was performed. Reported cases were reviewed to confirm microlithiasis. Radiology and pathology data bases were searched for pathology-proven testicular tumors (benign or malignant germ cell or stromal tumors). Association strength (risk) was expressed in terms of odds ratios (ORs) with and without adjustment for fixed study site effects based on logistic regression. Results A total of 37 863 individuals underwent scrotal US during the study period. Mean age was 11.1 years ± 4.7 [standard deviation] in boys with microlithiasis and 9.1 years ± 5.9 in boys without microlithiasis (P < .001). Microlithiasis was confirmed in 2.90% of patients (1097 of 37 863; range, 1.61%-5.25% across sites). It was unilateral in 21.97% (241 of 1097) of patients and bilateral in 78.0% (856 of 1097). Tumor was identified in 4.64% (51 of 1097) of boys with microlithiasis and 0.33% (122 of 36 766) of boys without (unadjusted OR, 14.65; 95% confidence interval [CI]: 10.29, 20.84; adjusted OR, 14.19). Malignant germ cell tumors were identified in 2.8% (31 of 1097) of boys with microlithiasis and 0.12% (45 of 36 766) of boys without microlithiasis (unadjusted OR, 17.26; 95% CI: 11.8, 25.25; adjusted OR, 22.37). Sex cord-stromal tumors were identified in 0.46% (five of 1097) of boys with microlithiasis and 0.079% (29 of 36 766) of boys without (unadjusted OR, 5.8; 95% CI: 2.1, 16; adjusted OR, 6.39). Conclusion There is a strong association between testicular microlithiasis and primary testicular neoplasia in this pediatric population. © RSNA, 2017.
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Cálculos/complicações , Cálculos/epidemiologia , Doenças Testiculares/complicações , Doenças Testiculares/epidemiologia , Neoplasias Testiculares/complicações , Neoplasias Testiculares/epidemiologia , Adolescente , Cálculos/diagnóstico por imagem , Criança , Pré-Escolar , Humanos , Masculino , Razão de Chances , Estudos Retrospectivos , Doenças Testiculares/diagnóstico por imagem , Neoplasias Testiculares/diagnóstico por imagem , UltrassonografiaRESUMO
Disorders of sex development are challenging to evaluate and diagnose in the newborn. As pediatric urologists, our goals are to (1) identify patients who should be evaluated; (2) rule out life-threatening syndromes; and (3) involve a multidisciplinary team for evaluation, diagnosis, and gender assignment. This review briefly goes over the newborn differential diagnosis in disorders of sex development, highlights the important laboratory and imaging data needed, and discusses the multidisciplinary approach to gender assignment and care of these patients. Early involvement of the family in decision-making with the multidisciplinary team is paramount to a timely evaluation and diagnosis in these patients.
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Tomada de Decisões , Gerenciamento Clínico , Transtornos do Desenvolvimento Sexual , Diferenciação Sexual , Diagnóstico Diferencial , Transtornos do Desenvolvimento Sexual/diagnóstico , Transtornos do Desenvolvimento Sexual/epidemiologia , Transtornos do Desenvolvimento Sexual/terapia , Feminino , Identidade de Gênero , Saúde Global , Humanos , Recém-Nascido , Masculino , Morbidade/tendênciasRESUMO
BACKGROUND: Pompe disease (PD) is a disorder of lysosomal glycogen storage. The introduction of enzyme replacement therapy (ERT) has shifted the focus of care from survival to quality of life. The presence of lower urinary tract symptoms (LUTS) and incontinence has not been previously described in children with PD. METHODS: Children with PD followed in the Duke Lysosomal Storage Disease Clinic completed a validated bladder control symptom score (BCSS) and additional questions regarding urinary tract infections (UTIs), giggle, and stress incontinence. Descriptive statistics were used to discriminate urinary symptoms between gender, age, and different types of PD. RESULTS: Sixteen of 23 children (aged 4-14 years) seen in our clinic participated. Seven were girls; ten had classic infantile PD, two atypical infantile PD, and four childhood presentation late-onset PD (LOPD). When stratified by PD subtype, median BCSS was worst for the classic PD subtype followed by atypical PD and LOPD. Daytime urinary incontinence accompanied by constipation was noted in six. Eight reported urinary incontinence with laughing: giggle incontinence in six and stress incontinence in two. Four girls reported a history of UTI. Longitudinal follow-up in 11 patients showed stable BCSS in six, improvement in three, and worsening in two. Worsening corresponded with changes in bowel function and improvement with increase in ERT dose or treatment of constipation. CONCLUSIONS: LUTS and incontinence are common in children with PD with greater symptoms noted with infantile-type PD. Improved bowel function and increase in ERT dose may lead to improvements in BCSS.
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BACKGROUND: Elevated body mass index (BMI) is a well-known risk factor for perioperative complications in adults, but has not been investigated in children undergoing urologic procedures. Given the low rate of complications associated with urologic surgery, a large sample is required for their characterization, but BMI is frequently not available in administrative databases. Here we report results from the first nationally based, prospectively assembled cohort analyzed with respect to the association of BMI with 30-day postoperative events for pediatric urologic procedures. OBJECTIVE: To determine the association of elevated BMI with overall 30-day postoperative events and wound complications in a large national sample of children undergoing urologic procedures. STUDY DESIGN: We queried the 2012 Pediatric National Surgical Quality Improvement Program database (NSQIP), defining obesity as a BMI above the 95th percentile and overweight above the 85th percentile, per CDC definitions. We used BMI <85th percentile as a referent group. Complications were collected within 30 days of the procedure. Comorbidity was classified on a linear scale using a validated pediatric-specific comorbidity score, and procedures were classified as genital, abdominal without bowel involvement, or abdominal with bowel involvement. Univariate and multivariate logistic models were used to test significance of associations. RESULTS: 2871 patients aged 2-18 years were analyzed. Of these, 420 (14.6%) were overweight and 440 (15.3%) were obese. A summary of 30-day events and complications is shown in the structured abstract table. On multivariate analysis adjusting for age, gender, class of procedure, and comorbidity, BMI remained a significant risk factor for 30-day events when comparing BMI ≥85th percentile to BMI <85th percentile (OR 1.36, 95% CI 1.03-1.8, p = 0.035). An exploratory subgroup analysis examining the rate of wound complications demonstrated an odds ratio of 2.36 (95% CI 1.28-4.35, p = 0.006) for BMI >85th percentile on multivariate analysis. DISCUSSION: Overweight/obese status increased the odds of overall complications by 36%, and of wound complications by 140%. In adults there is a known profound effect of body composition on wound complications, but in children this association is less clear, and has not been studied in the pediatric urologic literature on a large scale. The mechanisms linking BMI to pediatric postoperative complications are unclear, but cytokine mechanisms or changes in the response to inflammation have been postulated. Limitations of this study include restriction to those urologic procedures included in ACS-NSQIPP and sorted into broad general categories. We did not control for secondary procedures. BMI/BMI percentile may not be appropriate measures of body composition in patients with atypical body habitus or proportions (e.g. myelomeningocele). CONCLUSION: BMI in the pediatric NSQIP urologic population was found to be associated with overall complication after adjustment for case type and preoperative comorbidity in a large national sample assembled for assessment of perioperative outcomes. An exploratory analysis uncovered more than two-fold increase in odds of wound complication in obese/overweight patients compared with a normal weight referent population. These results may be useful in preoperative counseling patients regarding perioperative risk.
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Índice de Massa Corporal , Obesidade/complicações , Complicações Pós-Operatórias/epidemiologia , Medição de Risco , Doenças Urológicas/cirurgia , Procedimentos Cirúrgicos Urológicos/efeitos adversos , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino , Razão de Chances , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos , Fatores de Risco , Estados Unidos/epidemiologia , Doenças Urológicas/complicaçõesRESUMO
INTRODUCTION: Augmentation enterocystoplasty and appendicovesicostomy are complex pediatric urologic procedures. Although there is literature identifying long-term outcomes in these patients, the reporting of short-term postoperative outcomes has been limited by small numbers of cases and lack of prospective data collection. Here we report 30-day outcomes from the first nationally based, prospectively assembled cohort of pediatric patients undergoing these procedures. OBJECTIVE: To determine 30-day complication, readmission and reoperation after augmentation enterocystoplasty and appendicovesicostomy in a large national sample of pediatric patients, and to explore the association between preoperative and intraoperative characteristics and occurrence of any 30-day event. STUDY DESIGN: We queried the 2012 and 2013 American College of Surgeons National Surgical Quality Improvement Program Pediatric database (ACS-NSQIPP) for all patients undergoing augmentation enterocystoplasty and/or appendicovesicostomy. Surgical risk score was classified on a linear scale using a validated pediatric-specific comorbidity score. Intraoperative characteristics and postoperative 30-day events were reported from prospectively collected data. A composite measure of complication, readmission and/or reoperation was used as primary outcome for the multivariate logistic regression. RESULTS: There were 461 patients included in the analysis: 245 had appendicovesicostomy, 97 had augmentation enterocystoplasty and 119 had both procedures. There were a total of 110 NSQIP complications seen in 87 patients. The most common complication was urinary tract infection (see Table for 30-day outcomes by patient). The composite measure of any 30-day event was seen in 27.8% of the cohort and this was associated with longer operative time, increased number of procedures done at time of primary surgical procedure and higher surgical risk score. DISCUSSION: The ACS-NSQIPP provides a tool to examine short-term outcomes for these complex urologic procedures that has not been possible before. Although ACS-NSQIP has been used extensively in the adult surgical literature to identify rates of complications, and to determine predictors of readmission and adverse events, its use in pediatric surgery is new. As in the adult literature, the goal is for standardization of practice and transparency in reporting outcomes that may lead to reduction in morbidity and mortality. CONCLUSION: In this cohort, any 30-day event is seen in almost 30% of the patients undergoing these urologic procedures. Operative time, number of concurrent procedures and higher surgical risk score all are associated with higher odds of the composite 30-day event of complication, readmission and/or reoperation. These data can be useful in counseling patients and families about expectations around surgery and in improving outcomes.
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Apêndice/cirurgia , Colo/cirurgia , Cistostomia/métodos , Procedimentos de Cirurgia Plástica/métodos , Complicações Pós-Operatórias/epidemiologia , Bexiga Urinária/cirurgia , Derivação Urinária/métodos , Adolescente , Anastomose Cirúrgica/métodos , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Massachusetts/epidemiologia , Morbidade/tendências , Melhoria de Qualidade , Estudos Retrospectivos , Fatores de Risco , Fatores de TempoRESUMO
PURPOSE: We describe our experience with 2-stage proximal hypospadias repair. We report outcomes, and patient and procedure characteristics associated with surgical complications. MATERIALS AND METHODS: We retrospectively studied patients with proximal hypospadias who underwent staged repair between January 1993 and December 2012. Demographics, preoperative management and operative technique were reviewed. Complications included glans dehiscence, fistula, meatal stenosis, nonmeatal stricture, urethrocele/diverticula and residual chordee. Cox proportional hazards model was used to evaluate the associations between time to surgery for complications and patient and procedure level factors. RESULTS: A total of 134 patients were included. Median patient age was 8.8 months at first stage surgery and 17.1 months at second stage surgery, and median time between surgeries was 8 months. Median followup was 3.8 years. Complications were seen in 71 patients (53%), with the most common being fistula (39 patients, 29.1%). Reoperation was performed in 66 patients (49%). Median time from urethroplasty to surgery for complication was 14.9 months. Use of preoperative testosterone decreased risk of undergoing surgery for complication by 27% (HR 0.73, 95% CI 0.55-0.98, p = 0.04). In addition, patients identified as Hispanic were at increased risk for undergoing surgery for complications (HR 2.40, 95% CI 1.28-4.53, p = 0.01). CONCLUSIONS: We review the largest cohort of patients undergoing 2-stage hypospadias repair at a single institution. Complications and reoperation rates were approximately 50% in the setting of complex genital reconstruction.
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Hipospadia/cirurgia , Seguimentos , Humanos , Hipospadia/patologia , Lactente , Masculino , Complicações Pós-Operatórias/epidemiologia , Reoperação , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento , Procedimentos Cirúrgicos Urológicos Masculinos/métodosRESUMO
OBJECTIVE: To study the prevalence of lower urinary tract symptoms (LUTS) and incontinence in late-onset Pompe disease (LOPD) Methods: Adult LOPD patients seen at the Duke Pompe Clinic were prospectively recruited and asked to complete validated questionnaires on LUTS and incontinence as part of an IRB-approved study. Patient demographics as well as previous urologic history were reviewed. RESULTS: 35 patients with LOPD were included in the study (17 males and 18 females). The median age was 51.8 (range 18-72 years of age). Of these patients, 27/35 were receiving enzyme replacement therapy (ERT) with median duration of 54 months (range 5-88 months). In the male patients, 9/17 (53%) described their stream as dribbling, weak, or intermittent, and 9/17 (53%) complained of post-void dribbling. In addition 38% of the men were unable to stop their urination midstream. In the female patients, the most common complaint was urinary incontinence, reported in 14/18 (78%). In addition, 7/18 (39%) complained of post-void dribbling, and 47% were unable to stop their urination midstream. Bowel incontinence was reported in 45% of patients. There was a significant association between urinary symptoms and lower extremity function scores and duration of ERT (p = 0.005 and p = 0.04, respectively) CONCLUSIONS: This is the first study in a large cohort of LOPD patients that demonstrates LUTS and incontinence occur at a high rate. This study emphasizes the spectrum of LOPD is beyond isolated gross motor and pulmonary involvement and has a significant effect on the lower urinary tract.
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Neuronopathic Gaucher disease can present as a continuum of clinical findings, including somatic symptoms of anemia, thrombocytopenia, hepatosplenomegaly, and bone disease as well as neurologic sequelae. There is a spectrum of neurologic symptoms ranging from oculomotor apraxia to severe convulsions. The heterozygosity of phenotypes makes it difficult to predict the disease course. We describe an 8-year-old male with neuronopathic type III Gaucher disease who developed bladder dysfunction and was unable to completely void. He also presented with hypertension and acute renal insufficiency, most likely secondary to urinary retention. A complete evaluation was done for causes of urinary retention and bladder dysfunction. A renal bladder ultrasound demonstrated marked hydroureteronephrosis. There was no clinical evidence of infection and cystoscopy revealed no anatomic obstruction. In addition, MRI showed no spinal abnormalities. His bladder dysfunction was managed operatively by creating a catheterizable stoma, using his appendix, to empty his bladder, and surgical findings were consistent with neurogenic bladder. He continues to be managed for his Gaucher disease and neurogenic bladder by genetics, nephrology and urology. This is the first clinical report of neurogenic bladder dysfunction in neuronopathic Gaucher disease.
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OBJECTIVE: Diagnosis of low-grade hydronephrosis often occurs prenatally, during evaluation after urinary tract infection (UTI), or imaging for non-urologic reasons within the first year of life. Its significance in terms of resolution, need for antibiotic prophylaxis, or progression to surgery remains uncertain. We hypothesized that isolated low-grade hydronephrosis in this population frequently resolves, UTIs are infrequent, and progression to surgical intervention is minimal. PATIENTS AND METHODS: Children < 12 months old diagnosed hydronephrosis (Society for Fetal Urology [SFU] grade 1 or 2) between January 2004 and December 2009 were identified by ICD9 code. Patients with other urological abnormalities were excluded. Stability of hydronephrosis, UTI (≥ 100,000 CFU/mL bacterial growth) or need for surgical intervention was noted. RESULTS: Of 1496 infants with hydronephrosis, 416 (623 renal units) met inclusion criteria. Of 398 renal units with grade 1 hydronephrosis, 385 (96.7%) resolved or remained stable. Only 13 (3.3%) worsened, of which one underwent ureteroneocystostomy. Of 225 renal units with grade 2 hydronephrosis, 222 (98.7%) resolved, improved or remained stable, three (1.3%) worsened, of which one required pyeloplasty. Only 0.7% of patients in the ambulatory setting had a febrile UTI. CONCLUSIONS: Low-grade hydronephrosis diagnosed within the first year of life remains stable or improves in 97.4% of renal units. Given the low rate of recurrent UTI in the ambulatory setting, antibiotic prophylaxis has a limited role in management.
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Hidronefrose/diagnóstico , Hidronefrose/terapia , Fatores Etários , Antibacterianos/uso terapêutico , Estudos de Coortes , Progressão da Doença , Feminino , Humanos , Hidronefrose/etiologia , Lactente , Recém-Nascido , Masculino , Avaliação de Resultados em Cuidados de Saúde , Índice de Gravidade de Doença , Infecções Urinárias/epidemiologia , Infecções Urinárias/prevenção & controleRESUMO
OBJECTIVE: We hypothesized that cold ischemia during partial orchiectomy would lead to higher serum testosterone levels and preservation of testicular architecture than warm ischemia in a prepubescent rat model. MATERIALS AND METHODS: Eighteen prepubescent male Sprague-Dawley rats were randomized to three different surgical groups: sham surgery, bilateral partial orchiectomy with 30 min of cord compression with cold ischemia, or bilateral partial orchiectomy with 30 min of cord compression with warm ischemia. Animals were killed at puberty, and serum, sperm, and testicles were collected. Histological tissue injury was graded by standardized methodology. RESULTS: Mean serum testosterone levels were 1445 ± 590 pg/mL for the sham group, 449 ± 268 pg/mL for the cold ischemia group and 879 ± 631 pg/mL for the warm ischemia group (p = 0.12). Mean sperm counts were 2.1 × 10(7) for sham, 4.4 × 10(6) for cold ischemia, and 9.9 × 10(6) for the warm ischemia groups (p = 0.48). Histological evaluation revealed significant difference in tissue injury grading with more injury in the cold ischemia than in the warm ischemia group (p = 0.01). CONCLUSIONS: In our preclinical rat model, we found no benefit for cold ischemia over warm ischemia at 30 min.
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Isquemia Fria , Orquiectomia/métodos , Isquemia Quente , Animais , Masculino , Modelos Animais , Distribuição Aleatória , Ratos , Ratos Sprague-Dawley , Maturidade Sexual , Contagem de Espermatozoides , Testículo/patologia , Testículo/fisiopatologia , Testosterona/sangueRESUMO
OBJECTIVE: To describe our experience with the UroLume Urethral Stent, showing that it provides a viable option for the devastated, obstructed outlet after prostate cancer treatment. METHODS: We conducted an institutional review board-approved retrospective study of all men at our facility who underwent placement of the UroLume stent from January 2001 to January 2012. Records were reviewed for patient demographics, outcomes, and complications. We specifically evaluated urinary continence, ingrowth of the UroLume stent, need for repeat operations, and complications related to this treatment including artificial urinary sphincter (AUS) erosion. RESULTS: Forty-five men underwent placement of the UroLume stent with an average follow-up of 55.8 months. Of these, 41 had simultaneous or subsequent placement of an AUS with an overall continence rate of 35 of 45 (78%). Ingrowth was seen in 16 of 45 (36%) and AUS erosion in 8 of 41 (19.5%). Of the 16 patients treated for ingrowth, the average number of treatments was 2.7 per patient. There was no association between treatment for ingrowth and rate of AUS erosion (P = .92). CONCLUSION: Although no longer commercially available, our long-term data indicate that the UroLume was a reasonable minimally invasive treatment option for the devastated, obstructed outlet providing a reasonable rate of need for subsequent interventions. The UroLume maintains patency of the urethral lumen, which usually results in incontinence, but this can be managed with placement of the AUS. The alternative open operative reconstructive options have similar limitations with possibly greater morbidity.