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1.
J Urol ; 211(1): 37-47, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-37871332

RESUMO

PURPOSE: We sought to determine if the addition of liposomal bupivacaine to bupivacaine hydrochloride improves opioid-free rate and postoperative pain scores among children undergoing ambulatory urologic surgery. MATERIALS AND METHODS: A prospective, phase 3, single-blinded, single-center randomized trial with superiority design was conducted in children 6 to 18 years undergoing ambulatory urologic procedures between October 2021 and April 2023. Patients were randomized 1:1 to receive dorsal penile nerve block (penile procedures) or incisional infiltration with spermatic cord block (inguinal/scrotal procedures) with weight-based liposomal bupivacaine plus bupivacaine hydrochloride or bupivacaine hydrochloride alone. The primary outcome was opioid-free rate at 48 hours. Secondary outcomes included parents' postoperative pain measure scores, numerical pain scale scores, and weight-based opioid utilization at 48 hours and 10 to 14 days. RESULTS: We randomized 104 participants, with > 98% (102/104) with complete follow-up data at 48 hours and 10 to 14 days. At interim analysis, there was no significant difference in opioid-free rate at 48 hours between arms (60% in the intervention vs 62% in the control group; estimated difference in proportion -1.9% [95% CI, -20%-16%]; P = .8). We observed no increased odds of patients being opioid-free at 48 hours with the intervention compared to the control group (OR 0.96 [95% CI 0.41-2.3]; P = .9). The trial met the predetermined futility threshold for early stopping. There was no difference in parents' postoperative pain measure scores, numerical pain scale scores, or opioid utilization at 48 hours or 10 to 14 days. No difference in adverse events was observed. CONCLUSIONS: The addition of liposomal bupivacaine to bupivacaine hydrochloride did not significantly improve opioid-sparing effect or postoperative pain compared with bupivacaine hydrochloride alone among children ≥ 6 years undergoing ambulatory urologic surgery.


Assuntos
Anestésicos Locais , Bupivacaína , Adolescente , Criança , Humanos , Masculino , Analgésicos Opioides , Bupivacaína/uso terapêutico , Lipossomos , Dor Pós-Operatória/prevenção & controle , Estudos Prospectivos
2.
Pediatr Surg Int ; 39(1): 138, 2023 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-36820882

RESUMO

PURPOSE: Circumcision is one of the most frequently performed surgical procedures. Complications are infrequent, including bleeding, though can be significant such as shaft skin excision. The aim of this study was to identify mechanism of injury and reconstructive techniques for skin excision using a full thickness skin graft (FTSG) or with the novel application of tissue expanders (TE). METHODS: Patients who underwent penile reconstruction following shaft skin excision from an overzealous circumcision were retrospectively reviewed. The penis was covered using a FTSG, harvested from the groin/hip, or using TE, with expanders placed in residual shaft skin. RESULTS: Twelve patients experienced significant skin loss (range 65-95%) including 2 with partial glans loss. Ten were reconstructed using a FTSG and 2 with TE. Injury was most frequently from a Mogen clamp (n = 9), or from a Gomco clamp, Plastibell device, and electrocautery burns. Six FTSG patients experienced complications with lymphedema (n = 3) most common. CONCLUSION: Shaft skin excision is a devastating complication with risk greatest from Mogen clamp use. TE is preferred as this avoids donor site morbidity which reassures parents but requires sufficient residual skin that can be expanded. Both techniques effectively provide soft tissue coverage with acceptable appearance and long-term function.


Assuntos
Circuncisão Masculina , Procedimentos de Cirurgia Plástica , Masculino , Humanos , Estudos Retrospectivos , Pênis/cirurgia , Circuncisão Masculina/métodos , Transplante de Pele/métodos
3.
J Urol ; 205(5): 1460-1465, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33347773

RESUMO

PURPOSE: The authors examined the urothelium of exstrophy-epispadias complex spectrum patients for histological differences and expression of terminal markers of urothelial differentiation. MATERIALS AND METHODS: Between 2012 and 2017 bladder biopsies were obtained from 69 pediatric exstrophy-epispadias complex patients. These specimens were compared to bladder specimens from normal controls. All bladder specimens underwent histological assessment followed by immunohistochemical staining for uroplakin-II and p63. Expression levels of uroplakin-II and p63 were then assessed by a blinded pathologist. RESULTS: Forty-three classic bladder exstrophy biopsies were obtained (10 newborn closures, 22 delayed closures, and 11 repeat closures). Additional biopsies from 18 cloacal exstrophy patients and 8 epispadias patients were also evaluated. These specimens were compared to 8 normal control bladder specimens. Overall, uroplakin-II expression was lower in exstrophy-epispadias complex patients compared to controls (p <0.0001). Among classic bladder exstrophy patients, there was reduced expression of uroplakin-II in the delayed and repeat closures in comparison to newborn closures (p=0.045). Expression of p63 was lower in patients with exstrophy-epispadias complex compared to controls (p <0.0001). Expression of p63 was similar among classic bladder exstrophy patients closed as newborns when compared to delayed or repeat closures. Classic bladder exstrophy patients had a higher rate of squamous metaplasia when compared to controls (p=0.044). Additionally, there was a higher rate of squamous metaplasia in the patients undergoing delayed closure in comparison to those closed in the newborn period (p <0.001). CONCLUSIONS: The urothelium in the exstrophy-epispadias complex bladder is strikingly different than that of healthy controls. Uroplakin-II expression is greatly reduced in exstrophy-epispadias complex bladders and is influenced by the timing of bladder closure. Reduced uroplakin-II expression and increased rates of squamous metaplasia in exstrophy-epispadias complex patients undergoing delayed closure suggests that exposure of the urothelium may induce these changes. These findings shed light on the molecular changes in exstrophy-epispadias complex bladders and may have implications on the appropriate timing of primary bladder closure, as those closed in the newborn period appear to have a greater potential for growth and differentiation.


Assuntos
Extrofia Vesical/patologia , Extrofia Vesical/cirurgia , Epispadia/patologia , Epispadia/cirurgia , Bexiga Urinária/patologia , Urotélio/patologia , Biomarcadores/análise , Biópsia , Extrofia Vesical/metabolismo , Criança , Pré-Escolar , Epispadia/metabolismo , Humanos , Lactente , Masculino , Estudos Retrospectivos , Fatores de Transcrição/análise , Fatores de Transcrição/biossíntese , Proteínas Supressoras de Tumor/análise , Proteínas Supressoras de Tumor/biossíntese , Bexiga Urinária/química , Bexiga Urinária/metabolismo , Uroplaquina II/análise , Uroplaquina II/biossíntese , Urotélio/química , Urotélio/metabolismo
4.
J Urol ; 205(3): 880-887, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33026935

RESUMO

PURPOSE: Male patients with exstrophy-epispadias complex have a congenitally short penis. Adolescent and adult patients often desire penile reconstruction to enable penetrative intercourse. When penile lengthening using local tissue and/or skin graft is unsuitable, phalloplasty is performed. We provide updated experiences using radial forearm free flap and pedicled anterolateral thigh flap phalloplasty techniques over a 6-year period in exstrophy-epispadias complex patients. MATERIALS AND METHODS: Consecutive patients who underwent radial forearm free flap or pedicled anterolateral thigh flap phalloplasty between 2013 and 2019 were reviewed. A total of 11 patients were identified, including 8 with classic bladder exstrophy and 3 with cloacal exstrophy. In each case, flap dimensions, donor and recipient vessels and nerves, complications, outcomes and subsequent surgical procedures are reported. RESULTS: A radial forearm free flap was performed in 6 patients and a pedicled anterolateral thigh flap in 5. Flap survival was observed in all cases and 5 patients subsequently received an inflatable penile prosthesis. Among patients undergoing a pedicled anterolateral thigh flap, there was 1 mortality from acute pulmonary embolism, and the other 4 required at least 1 debulking procedure. CONCLUSIONS: Phalloplasty is an important procedure in patients with exstrophy-epispadias complex with severe penile inadequacy. Both techniques have favorable long-term outcomes, although the pedicled anterolateral thigh flap frequently requires a later debulking procedure. The radial forearm free flap is preferred but if the radial forearm is overly thin and the risk of inflatable penile prosthesis extrusion is high, the pedicled anterolateral thigh flap is an acceptable alternative.


Assuntos
Extrofia Vesical/cirurgia , Epispadia/cirurgia , Retalhos de Tecido Biológico , Pênis/anormalidades , Pênis/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Adolescente , Adulto , Antebraço/cirurgia , Humanos , Masculino , Prótese de Pênis , Estudos Retrospectivos , Coxa da Perna/cirurgia
5.
J Pediatr Orthop ; 41(2): e181-e187, 2021 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-33136931

RESUMO

BACKGROUND: It has been posited that the osseous pelvic anomalies seen in patients with classic bladder exstrophy (CBE) result from disruption of the pubic symphysis. This hypothesis, however, has not been tested. In the present animal study, our objective was to determine whether the tension of the pubic symphysis helps maintain the shape of the pelvic ring, or whether the growing bones maintain a ring shape even without the tension of the symphysis. METHODS: In total, 12 neonatal New Zealand White rabbits underwent pubic symphysiotomy (experimental group, n=9) or sham surgery (control group, n=3) on days 3 or 4 of life. Rabbits were scanned with cone-beam computed tomography at 1, 4, 12, and 20 weeks postoperatively to monitor changes in the following pelvic parameters, which are known to be altered in CBE: anterior segment angle, anterior segment length, intertriradiate distance, interpubic distance, and posterior segment angle. Changes within the experimental and control groups were evaluated using repeated-measures analysis of variance and post hoc Tukey honest significant difference testing. Two-tailed t tests were used to compare treatment groups at each time point. RESULTS: Both groups showed increases in anterior segment length and intertriradiate distance during the study period; rabbits in the experimental group also showed a steady increase in interpubic distance (F=43.9; P<0.001). Experimental rabbits had significantly larger mean values for anterior segment angle, intertriradiate distance, interpubic distance, and posterior segment angle than did control rabbits at all time points. We found no difference in mean anterior segment length between control and experimental groups at any time point. The difference in interpubic distance was particularly pronounced by 20 weeks (experimental group, 13±2.7 mm; control group, 1.1±0.1 mm; P<0.001). CONCLUSIONS: The pubic symphysis is essential for normal pelvic development. Its absence led to early pelvic angulation and progressive pubic separation in a rabbit model. However, we found no significant difference in the mean anterior segment length, and it is likely that other factors are also implicated in the growth disturbance seen in CBE. LEVEL OF EVIDENCE: Level V.


Assuntos
Extrofia Vesical/patologia , Sínfise Pubiana/anormalidades , Animais , Animais Recém-Nascidos , Modelos Animais de Doenças , Coelhos , Distribuição Aleatória
6.
J Urol ; 203(1): 200-205, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31437120

RESUMO

PURPOSE: We investigated surgical approaches to urinary incontinence and long-term continence outcomes after successful bladder reconstruction in a heterogeneous patient population with classic bladder exstrophy. We hypothesized that while most patients will achieve urinary continence after surgery, only a select group will void volitionally per urethra. MATERIALS AND METHODS: An institutional database of 1,323 patients with exstrophy-epispadias complex was reviewed for patients with classic bladder exstrophy who underwent successful bladder closure and a subsequent continence procedure between 1975 and 2017. Procedures included bladder neck reconstruction, bladder neck reconstruction with augmentation cystoplasty or continent catheterizable stoma, and bladder neck closure with continent catheterizable stoma. Cloacal exstrophy, epispadias and variant exstrophy cases were excluded from analysis. Continence at last followup was defined as a dry interval of 3 or more hours without nighttime leakage. Those patients with more than 3 months of followup were assessed. RESULTS: Overall 432 patients underwent successful bladder closure (primary 71.5%, repeat 28.5%) and a urinary continence procedure. At last followup 162 (37%) underwent bladder neck reconstruction, 76 (18%) underwent bladder neck reconstruction with augmentation cystoplasty or continent catheterizable stoma, 173 (40%) underwent bladder neck closure with continent catheterizable stoma and 18 underwent other procedures. Median followup from the first continence procedure was 7.2 years (IQR 2.3-13.7). Continence was assessed in 350 patients. After isolated bladder neck reconstruction 91 of 142 patients were continent (64%, 95% CI 56-72). After bladder neck closure with continent catheterizable stoma 124 of 133 patients evaluated were continent (93%, 95% CI 87-97). CONCLUSIONS: Most patients with classic bladder exstrophy require multiple reconstructive procedures to achieve continence. Only about 25% of patients are expected to void normally per urethra without reliance on catheterization or urinary diversion.


Assuntos
Extrofia Vesical/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Incontinência Urinária/cirurgia , Procedimentos Cirúrgicos Urológicos/métodos , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino
7.
J Urol ; : 101097JU0000000000004054, 2024 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-38787769
8.
J Urol ; 202(2): 406-412, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30840542

RESUMO

PURPOSE: We determined the safety and efficacy of intraoperative magnetic resonance imaging guided surgical reconstruction of bladder exstrophy for the identification of the urogenital diaphragm fibers and the thickened muscular attachments between the posterior urethra, bladder plate and pubic rami. MATERIALS AND METHODS: Institutional review board and U.S. Food and Drug Administration approval was obtained for the use of Brainlab (Munich, Germany) intraoperative magnetic resonance imaging guided navigation of the pelvic floor anatomy during closure of classic bladder exstrophy and cloacal exstrophy at our institution. Preoperative pelvic 3-dimensional magnetic resonance imaging was obtained 1 day before closure in patients undergoing pelvic osteotomies. Intraoperative registration was performed after preoperative planning with a pediatric radiologist using 5 anatomical landmarks immediately before initiation of surgery. Accuracy of pelvic anatomy identification was assessed by 2 pediatric urological surgeons and 1 pediatric radiologist. RESULTS: In 43 patients with classic bladder exstrophy and 4 patients with cloacal exstrophy closed at our institution, Brainlab technology was used successfully to navigate and guide the dissection of the pelvic floor intraoperatively. In all patients there was 100% accuracy in the correlation of gross anatomical landmarks with 3-dimensional magnetic resonance imaging identified landmarks intraoperatively, and all patients had successful closure without any major complications. CONCLUSIONS: Brainlab intraoperative 3-dimensional magnetic resonance imaging guided pelvic floor navigation and dissection is an effective way to accurately identify pelvic anatomy during classic bladder exstrophy and cloacal exstrophy closure. This technology offers a unique opportunity for surgical skill education in this complex reconstructive operation.


Assuntos
Extrofia Vesical/diagnóstico por imagem , Extrofia Vesical/cirurgia , Imageamento Tridimensional , Imageamento por Ressonância Magnética , Diafragma da Pelve/diagnóstico por imagem , Diafragma da Pelve/cirurgia , Cirurgia Assistida por Computador , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética/métodos , Masculino , Resultado do Tratamento , Procedimentos Cirúrgicos Urológicos/efeitos adversos , Procedimentos Cirúrgicos Urológicos/métodos
10.
J Urol ; 200(6): 1354-1361, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-29906437

RESUMO

PURPOSE: We used magnetic resonance imaging to define the innate pelvic neurovascular course and prostatic anatomy in infants with classic bladder exstrophy before the pelvis was altered by surgery. MATERIALS AND METHODS: Pelvic magnetic resonance imaging was performed in male infants with classic bladder exstrophy and compared to a group of age matched controls. Data collected included prostatic dimensions as well as course of the prostatic artery, periprostatic vessels and pudendal neurovasculature. RESULTS: The prostate was larger in the transverse (p <0.001) and anteroposterior (p <0.001) dimensions in patients with classic bladder exstrophy compared to those with normal prostates but was smaller in the craniocaudal dimension (p <0.001). This finding resulted in a larger calculated prostate volume in patients with classic bladder exstrophy compared to controls (p = 0.015). The pelvic vasculature and prostatic artery followed a similar course in patients with classic bladder exstrophy and controls. Relative to each other, the lateral to medial course of the prostatic arteries in males with classic bladder exstrophy was less pronounced than in normal males. A similar externally rotated pattern was seen when both sides of the pudendal vasculature were compared in males with classic bladder exstrophy. CONCLUSIONS: The prostate in infants with classic bladder exstrophy has a consistent configuration and dimensions that differ from those in normal infants. When both sides are compared, the periprostatic vasculature and penile sensory neurovascular bundles are externally rotated in infants with classic bladder exstrophy. However, these components course along the same landmarks as in normal patients.


Assuntos
Extrofia Vesical/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Pênis/diagnóstico por imagem , Próstata/diagnóstico por imagem , Pontos de Referência Anatômicos , Extrofia Vesical/cirurgia , Estudos de Casos e Controles , Pré-Escolar , Humanos , Lactente , Recém-Nascido , Masculino , Pelve/irrigação sanguínea , Pelve/diagnóstico por imagem , Pênis/irrigação sanguínea , Período Pré-Operatório , Estudos Prospectivos , Próstata/irrigação sanguínea
11.
J Urol ; 200(4): 882-889, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-29723567

RESUMO

PURPOSE: Understanding the distinct female anatomy in classic bladder exstrophy is crucial for optimal reconstructive and functional outcomes. We present novel quantitative anatomical data in females with classic bladder exstrophy before primary closure. MATERIALS AND METHODS: 3-Dimensional reconstruction was performed in patients undergoing pelvic magnetic resonance imaging, and pelvic anatomy was characterized, including measurements of the vagina, cervix and erectile bodies. RESULTS: We examined magnetic resonance imaging of 5 females (mean age 5.5 months) with classic bladder exstrophy and 4 age matched controls (mean age 5.8 months). Mean distance between the anal verge and vaginal introitus was greater in patients with classic bladder exstrophy (2.43 cm) than in controls (1.62 cm). Mean total vaginal length in patients with classic bladder exstrophy was half that of controls (1.64 cm vs 3.39 cm). All 4 controls had posterior facing cervical ora, while 4 of 5 females with exstrophy had anterior facing cervical ora located in the anterior vaginal wall. Lateral deviation of the cervical ora was also seen in all 5 patients with classic bladder exstrophy but in only 1 control. Clitoral body length was comparable in both groups (26.2 mm and 28.0 mm). However, the anterior cavernosa-to-posterior (pelvic rami associated) cavernosa ratio was much greater in patients with classic bladder exstrophy (6.4) compared to controls (2.5). CONCLUSIONS: This study uncovers the uniquely novel finding that contrary to their male counterparts, females with classic bladder exstrophy have the majority of the clitoral body anterior to the pelvic attachment. This discovery has surgical and embryological implications.


Assuntos
Extrofia Vesical/diagnóstico por imagem , Extrofia Vesical/cirurgia , Genitália Feminina/diagnóstico por imagem , Imageamento Tridimensional , Imageamento por Ressonância Magnética/métodos , Procedimentos de Cirurgia Plástica/métodos , Estudos de Casos e Controles , Feminino , Genitália Feminina/anatomia & histologia , Humanos , Lactente , Estudos de Amostragem , Sensibilidade e Especificidade
12.
J Urol ; 197(4): 1138-1143, 2017 04.
Artigo em Inglês | MEDLINE | ID: mdl-27720781

RESUMO

PURPOSE: Successful primary bladder exstrophy closure provides the best opportunity for patients to achieve a functional closure and urinary continence regardless of the method of repair. Use of osteotomy during initial closure has significantly improved success rates. However, failures can still occur. We identify factors that contribute to a failed primary exstrophy closure with osteotomy. MATERIALS AND METHODS: We reviewed a prospectively maintained institutional database for classic bladder exstrophy cases primarily closed with osteotomy at our institution or referred after primary closure between 1990 and 2015. Data were collected regarding patient gender, closure, osteotomy, immobilization, orthopedics and perioperative pain control. Univariate and multivariable analyses were performed to determine predictors of failure. RESULTS: A total of 156 patients met inclusion criteria. Overall failure rate was 30% (13% from our institution and 87% from referrals). On multivariable analysis use of Buck traction (OR 0.11, 95% CI 0.02-0.60, p = 0.011) and immobilization time greater than 4 weeks (OR 0.19, 95% CI 0.04-0.86, p = 0.031) had significantly lower odds of failure. Osteotomy performed by general orthopedic surgeons had significantly higher odds of failure (OR 23.47, 95% CI 1.45-379.19, p = 0.027). Type of osteotomy and use of epidural anesthesia did not significantly impact failure rates. CONCLUSIONS: Proper immobilization with modified Buck traction and external fixation, immobilization time greater than 4 weeks and undergoing osteotomy performed by a pediatric orthopedic surgeon are crucial factors for successful primary closure with osteotomy.


Assuntos
Extrofia Vesical/cirurgia , Osteotomia , Feminino , Humanos , Recém-Nascido , Masculino , Análise Multivariada , Estudos Prospectivos , Fatores de Tempo , Falha de Tratamento
13.
BJU Int ; 120(3): 422-427, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28371167

RESUMO

OBJECTIVES: To identify the long-term sexual health outcomes and relationships in men born with classic bladder exstrophy (CBE). MATERIALS AND METHODS: A prospectively maintained institutional database comprising 1248 patients with exstrophy-epispadias was used. Men aged ≥18 years with CBE were included in the study. A 42-question survey was designed using a combination of demographic information and previously validated questionnaires. RESULTS: A total of 215 men met the inclusion criteria, of whom 113 (53%) completed the questionnaire. The mean age of the respondents was 32 years. Ninety-six (85%) of the respondents had been sexually active in their lifetime, and 66 of these (58%) were moderately to very satisfied with their sex life. The average Sexual Health Inventory for Men score was 19.8. All aspects of assessment using the Penile Perception Score questionnaire were on average between 'very dissatisfied' and 'satisfied'. Thirty-two respondents (28%) had attempted to conceive with their partner. Twenty-three (20%) were successful in conceiving, while 31 (27%) reported a confirmed fertility problem. A total of 31 respondents (27%) reported undergoing a semen analysis or post-ejaculatory urine analysis. Of these, only four respondents reported azoospermia. CONCLUSION: Patients with CBE have many of the same sexual and relationship successes and concerns as the general population. This is invaluable information to give to both the parents of boys with CBE, and to the boys themselves as they transition to adulthood.


Assuntos
Extrofia Vesical/epidemiologia , Saúde Reprodutiva/estatística & dados numéricos , Comportamento Sexual/estatística & dados numéricos , Adulto , Extrofia Vesical/fisiopatologia , Extrofia Vesical/psicologia , Epispadia/epidemiologia , Fertilidade/fisiologia , Humanos , Masculino , Estudos Prospectivos , Análise do Sêmen , Inquéritos e Questionários , Adulto Jovem
14.
Hum Mol Genet ; 23(20): 5536-44, 2014 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-24852367

RESUMO

Bladder exstrophy-epispadias complex (BEEC), the severe end of the urorectal malformation spectrum, has a profound impact on continence as well as sexual and renal functions. It is widely accepted that for the majority of cases the genetic basis appears to be multifactorial. Here, we report the first study which utilizes genome-wide association methods to analyze a cohort comprising patients presenting the most common BEEC form, classic bladder exstrophy (CBE), to identify common variation associated with risk for isolated CBE. We employed discovery and follow-up samples comprising 218 cases/865 controls and 78 trios in total, all of European descent. Our discovery sample identified a marker near SALL1, showing genome-wide significant association with CBE. However, analyses performed on follow-up samples did not add further support to these findings. We were also able to identify an association with CBE across our study samples (discovery: P = 8.88 × 10(-5); follow-up: P = 0.0025; combined: 1.09 × 10(-6)) in a highly conserved 32 kb intergenic region containing regulatory elements between WNT3 and WNT9B. Subsequent analyses in mice revealed expression for both genes in the genital region during stages relevant to the development of CBE in humans. Unfortunately, we were not able to replicate the suggestive signal for WNT3 and WNT9B in a sample that was enriched for non-CBE BEEC cases (P = 0.51). Our suggestive findings support the hypothesis that larger samples are warranted to identify association of common variation with CBE.


Assuntos
Extrofia Vesical/genética , Proteínas Wnt/genética , Proteínas Wnt/metabolismo , Proteína Wnt3/genética , Proteína Wnt3/metabolismo , Animais , Sequência de Bases , Extrofia Vesical/patologia , Estudos de Casos e Controles , Sequência Conservada , Predisposição Genética para Doença , Genitália/embriologia , Genitália/metabolismo , Estudo de Associação Genômica Ampla , Humanos , Camundongos , Polimorfismo de Nucleotídeo Único , Fatores de Transcrição/genética , População Branca/genética
16.
Can J Urol ; 23(5): 8476-8479, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27705734

RESUMO

Bladder exstrophy and cloacal exstrophy are rare congenital defects of the genitourinary tract that require complex surgical reconstruction. Malrotation of the bony pelvis causes a characteristic diastasis of the pubic symphysis, which is surgically reduced at the time of initial bladder closure. For a successful primary closure without tension such that the bladder can be placed deep within the pelvis, pelvic osteotomy is often used. However, alternative techniques have been utilized to bring the pubic rami into apposition. The authors present four bladder/cloacal exstrophy patients in which an intrapubic wire was used for pubic apposition, resulting in significant genitourinary complications.


Assuntos
Fios Ortopédicos/efeitos adversos , Osteotomia , Complicações Pós-Operatórias , Diástase da Sínfise Pubiana , Suturas/efeitos adversos , Procedimentos Cirúrgicos Urológicos , Extrofia Vesical , Criança , Pré-Escolar , Cloaca/anormalidades , Feminino , Humanos , Lactente , Masculino , Osteotomia/efeitos adversos , Osteotomia/métodos , Ossos Pélvicos/cirurgia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/cirurgia , Diástase da Sínfise Pubiana/etiologia , Diástase da Sínfise Pubiana/cirurgia , Procedimentos de Cirurgia Plástica/efeitos adversos , Procedimentos de Cirurgia Plástica/métodos , Reimplante/métodos , Resultado do Tratamento , Procedimentos Cirúrgicos Urológicos/efeitos adversos , Procedimentos Cirúrgicos Urológicos/métodos
17.
J Urol ; 194(4): 1091-5, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25916676

RESUMO

PURPOSE: Complete male epispadias is a rare congenital anomaly characterized by failed closure of the entire penopubic dorsal urethra. Epispadias repair is typically performed during infancy, and resultant genitourinary abnormalities can have a marked impact on adult life. We assess long-term post-reconstruction sexual health and fertility outcomes in adults with complete male epispadias. MATERIALS AND METHODS: A total of 132 patients 18 years or older with complete male epispadias who had undergone reconstruction were identified from a prospectively maintained, institutionally approved database. Patients who could be contacted were asked to complete a telephone survey regarding sexual function. Reconstructive history and clinical details were obtained by chart/database review. RESULTS: Of 132 patients with complete male epispadias 74 met inclusion criteria and 15 (20%) completed the questionnaire. Seven patients (47%) reported currently being in a relationship. Although 12 patients (80%) reported overall satisfactory sexual intercourse, 11 (73%) admitted to 1 or more problems with sexual function, including abnormal ejaculation (53%), diminished sensation (20%) and difficulty maintaining an erection (20%). When questioned regarding the importance of fertility on a scale of 0 to 5 using a Likert-type item the response of 10 patients (67%) was 4 points or greater. Five patients (33%) reported having impregnated a sexual partner. Although 4 patients (27%) had suspicion of fertility problems, only 2 (13%) reported having abnormal semen analyses. CONCLUSIONS: This is one of few studies examining post-reconstruction sexual health and function in adults with complete male epispadias. Although small, our study demonstrates that patients are able to engage in relationships, participate in sexual intercourse and impregnate their partners. These results highlight sexual concerns and outcomes that may be of use when counselling patients with complete male epispadias and their families.


Assuntos
Epispadia/cirurgia , Saúde Reprodutiva , Adulto , Fertilidade , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento , Procedimentos Cirúrgicos Urológicos Masculinos , Adulto Jovem
18.
Birth Defects Res A Clin Mol Teratol ; 100(6): 512-7, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24764164

RESUMO

BACKGROUND: Classic bladder exstrophy (CBE) is the most common form of the bladder exstrophy and epispadias complex. Previously, we and others have identified four patients with a duplication of 22q11.21 among a total of 96 unrelated CBE patients. METHODS: Here, we investigated whether this chromosomal aberration was commonly associated with CBE/bladder exstrophy and epispadias complex in an extended case-control sample. Multiplex ligation-dependent probe amplification and microarray-based analysis were used to identify 22q11.21 duplications in 244 unrelated bladder exstrophy and epispadias complex patients (including 217 CBE patients) and 665 healthy controls. RESULTS: New duplications of variable size were identified in four CBE patients and one control. Pooling of our previous and present data (eight duplications in 313 CBE patients) yielded a combined odds ratio of 31.86 (95% confidence interval, 4.24-1407.97). Array-based sequence capture and high-throughput targeted re-sequencing established that all breakpoints resided within the low-copy repeats 22A to 22D. Comparison of the eight duplications revealed a 414 kb phenocritical region harboring 12 validated RefSeq genes. Characterization of these 12 candidate genes through whole-mount in situ hybridization of mouse embryos at embryonic day 9.5 suggested that CRKL, THAP7, and LZTR1 are CBE candidate genes. CONCLUSION: Our data suggest that duplication of 22q11.21 increases CBE risk and implicate a phenocritical region in disease formation.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Extrofia Vesical/genética , Proteínas Cromossômicas não Histona/genética , Duplicação Cromossômica , Cromossomos Humanos Par 22 , Epispadia/genética , Proteínas Nucleares/genética , Fatores de Transcrição/genética , Animais , Extrofia Vesical/patologia , Estudos de Casos e Controles , Embrião de Mamíferos , Epispadia/patologia , Feminino , Humanos , Hibridização In Situ , Masculino , Camundongos , Razão de Chances , Análise de Sequência com Séries de Oligonucleotídeos , Análise de Sequência de DNA , Uretra/anormalidades , Uretra/metabolismo , Bexiga Urinária/anormalidades , Bexiga Urinária/metabolismo
19.
J Pediatr Urol ; 20(2): 157-164, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37451916

RESUMO

With continued improvements in medical care and surgical reconstruction, more patients with classic bladder exstrophy (CBE) are living into adulthood, than ever before. With improved survival, a greater emphasis on adult issues and improving quality of life (QOL) for these individuals is of increasing importance. This review aims to summarize data on long-term considerations for the adult with exstrophy and to highlight areas of future research and collaboration. Key conclusions are that continence or dryness are achievable alongside the ability to enjoy sexual relationships and a good quality of life.

20.
Res Rep Urol ; 16: 39-44, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38370509

RESUMO

Purpose: This study examines the readability of online medical information regarding cloacal exstrophy (CE). We hypothesize that inappropriate levels of comprehension are required in these resources, leading to poor understanding and confusion amongst caregivers. Methods: The Google and Bing search engines were used to search the terms "cloacal exstrophy" and "cloacal exstrophy treatment". The first 100 results for each were collected. Each webpage was analyzed for readability using four independent validated scoring systems: the Gunning-Fog index (GFI), SMOG grade (Simple Measure of Gobbledygook), Dale-Chall index (DCI), and the Flesch-Kincaid grade (FKG). Results: Forty-seven unique webpages fit the inclusion criteria. Mean readability scores across all websites were GFI, 14.6; SMOG score, 10.8; DCI, 9.3; and FKG, 11.8, correlating to adjusted grade levels of college sophomore, 11th grade, college, and 11th grade, respectively. There were significant differences across all readability formulas. Non-profit websites were significantly less readable than institutional and commercial webpages (GFI p = 0.012, SMOG p = 0.018, DCI p = 0.021, FKG p = 0.0093). Conclusion: Caregiver-directed health information regarding CE and its treatment available online is written at the 11th grade reading level or above. Online resources pertaining to CE must be simplified to be effective.

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