Probability of Bladder Augmentation, Diversion and Clean Intermittent Catheterization in Classic Bladder Exstrophy: A 36-Year, Multi-Institutional, Retrospective Cohort Study.

PURPOSE: We assessed the probability of bladder augmentation/diversion and clean intermittent catheterization in classic bladder exstrophy in a multi-institutional cohort. MATERIALS AND METHODS: We included children born from 1980 to 2016 with bladder exstrophy and treated across 5 centers (exclusion criteria less than 1 year followup after birth, isolated epispadias, bladder exstrophy variants etc). Outcomes were probability of bladder augmentation/diversion after bladder closure and proportion of patients performing clean intermittent catheterization at last followup. Survival analysis was used. RESULTS: Of 216 patients 63.4% were male (median followup 14.4 years). Overall 4 patients (1.9%) underwent primary diversion and 212 underwent primary closure (72.6% in first week of life). After primary closure 50.9% underwent augmentation, 4.7% diversion and 44.8% neither. By age 18 years 88.5% underwent a bladder neck procedure (synchronous augmentation 27.3%). On survival analysis the probability of bladder augmentation/diversion was 14.9% by age 5 years, 50.7% by 10 years and 70.1% by 18 years. Probability of bladder augmentation/diversion varied significantly between centers (p=0.01). Probability of bladder augmentation/diversion was 60.7% 10 years after bladder neck procedure. At last followup of the entire cohort 67.4% performed clean intermittent catheterization. Among 95 patients with intact native bladders 30.5% performed clean intermittent catheterization (channel 72.4%). Among 76 adults without a diversion 85.5% performed clean intermittent catheterization (augmented bladder 100.0% clean intermittent catheterization, native bladder 31.3%). Fifteen patients underwent diversion (continent 8, ureterosigmoidostomy 5, incontinent 2). CONCLUSIONS: On long-term followup probability of bladder augmentation/diversion increased with age, with 1 in 2 patients by age 10 years and the majority in adulthood. Probability of bladder augmentation/diversion differed among institutions. Almost a third of patients, including adults, with a closed native bladder performed clean intermittent catheterization. Considering all adults only 14% did not perform clean intermittent catheterization.

Aplicación de las plaquetas en la extrofia vesical / Use of platelet in bladder exstrophy

La extrofia vesical es una anomalía congénita grave del tracto urinario inferior que afecta la vejiga, los huesos pelvianos, la pared abdominal, los genitales externos, el perineo y, en algunos casos, el intestino. Los tratamientos convencionales están basados en técnicas quirúrgicas, para lograr reconstruir la vejiga, los genitales y cerrar el defecto de la pared. Se presenta el caso de una niña de 3 años de edad, en la que el tratamiento quirúrgico se había aplicado en 6 ocasiones sin resultados. Se decidió combinar el tratamiento quirúrgico con la aplicación de medicina regenerativa. Se le aplicó lisado de plaquetas en la pared de la vejiga y los bordes de la pared abdominal a razón de 1 mL semanal, durante 4 semanas. Se logró la regeneración de los tejidos que permitió afrontar los bordes de dichas estructuras y realizar la técnica quirúrgica convencional. Como resultado se logró cierre total de vejiga, uretra y pared abdominal, sin fístulas entre estas estructuras ni al exterior. La utilización del lisado de plaquetas favorece el crecimiento y regeneración de los tejidos que componen el tracto urinario. La cirugía puede ser una solución definitiva, después de haber aplicado los factores de crecimiento plaquetarios, que preparan el tejido en cuanto a calidad y cantidad, favoreciendo el afrontamiento de los bordes, la cicatrización y disminuyendo las complicaciones posquirúrgicas(AU)

Bladder exstrophy is a severe congenital anomaly of lower urinary tract that affects the bladder, pelvic bones, abdominal wall, external genitalia, perineum and in some cases intestine. Conventional treatments are based on surgical techniques, in order to reconstruct bladder, genitals and close wall defect. We present a case of a 3 year old girl, in which surgical treatment was applied 6 times without results. It was decided to combine the surgical treatment with application of regenerative medicine. It was applied platelet lysate in the bladder wall and the edges of the abdominal wall at the rate of 1 mL weekly for 4 weeks, achieving tissue regeneration. It enabled to face the edges of those structures and perform conventional surgical technique. As a result, we achieved a total closure of bladder, urethra and abdominal wall, without fistulas either between these structures or outside. Therefore the use of platelet lysate promotes growth and tissue regeneration comprising the urinary tract, decreasing number of interventions, time exposition structures of the abdominal cavity, and post surgical complications such as fistulas(AU)

[The German research network CURE-Net : A benefit for patients with rare diseases]. / Das deutsche Forschungsnetzwerk CURE-Net : Ein Gewinn für Patienten mit seltenen Erkrankungen.

With the help of the media, there is growing public awareness for the problems associated with rare diseases and their impact on the lives of those affected and their families. Bladder exstrophy-epispadias complex (BEEC) is also a part of the group of rare diseases within the urological field. The German network CURE-Net was founded in 2009 to systematically collect data regarding the epidemiological and molecular causes, and clinical and psychosocial effects of congenital urorectal malformations. With the help of self-help groups a national registry could be established for systematic data retrieval. This research can help to improve existing medical care and follow-up for affected individuals with BEEC.

Psychosocial screening at paediatric BEEC clinics: a pilot evaluation study.

INTRODUCTION: Bladder Exstrophy and Epispadias Complex (BEEC) is associated with an increased risk of impaired mental health, quality of life, and psychosocial functioning. Therefore, screening patients to help identify and evaluate potential psychosocial difficulty is arguably an important consideration for BEEC Services. OBJECTIVE: To screen paediatric BEEC patients for a range of general psychosocial difficulties in a multi-disciplinary out-patient clinic setting. STUDY DESIGN: This cross-sectional evaluation was conducted between April 2012 and July 2013. Families attending BEEC multi-disciplinary out-patient clinics were asked to complete a range of standardised psychosocial questionnaires, including the Paediatric Quality of Life Inventory (PedsQL 4.0 Generic Core and Family Impact Module), the Strengths and Difficulties Questionnaire (SDQ), the Paediatric Index of Emotional Distress (PI-ED), and the Hospital Anxiety and Depression Scale (HADS). 108 children attended clinic of which 80 (74.1%) patients and their parents/carers completed some or all of the questionnaires. The mean patient age was 8.41 years (SD = 4.46, range = 1-18 years). There were more boys (N = 50, 62.5%) and the majority had a diagnosis of classic bladder exstrophy (N = 51, 63.8%), followed by primary epispadias (N = 22, 27.5%) and cloacal exstrophy (N = 7, 8.7%). RESULTS: Mean total scores fell within the average/normal range on all questionnaires used (See table below). However, variation around these means was high. Age, gender and diagnosis were found to significantly influence certain questionnaire responses with older-age groups, males, and those with classic bladder exstrophy particularly at risk across some domains. The children/adolescents self-reported better health related quality of life (HRQoL) scores than published results for a range of paediatric chronic health conditions. Differences between parent and child responses on both the PedsQL and SDQ favoured a more positive response on the child self-report questionnaire but were not statistically significant. DISCUSSION: Mean scores on the measures used suggest a relatively optimistic picture of general psychosocial well-being, especially for HRQoL, in the BEEC population studied. Positive HRQoL outcomes have recently been reported for BEEC paediatric populations. Our results reflect this trend with better mean HRQoL scores than paediatric patients with a range of other chronic health conditions. However, this optimism is cautious given the limitations of this evaluation study and the high variation around the means. Limitations included the small sample size (especially for patients with cloacal exstrophy), the lack of a control group, the limited sensitivity of generic questionnaires in respect of BEEC-specific issues, and the low mean age of patients in the study. Future screening programmes may wish to consider measuring BEEC-specific variables (e.g. satisfaction with genital appearance/function); collecting information on medical aspects, such as continence, pubertal stage and frequency/timing of medical intervention; and asking both parents/carers (where possible) to complete the questionnaires. CONCLUSIONS: Screening questionnaire responses were used in conjunction with clinical psychology consultations to evaluate a range of psychosocial aspects in BEEC paediatric patients. Whilst mean scores on the measures used suggest a relatively optimistic picture, certain individual scores did fall within the clinical ranges, highlighting the potential need for further assessment. Developmentally tailored consultations with a clinical psychologist can provide detailed information around questionnaire responses and further assess BEEC specific aspects.

A short history of bladder exstrophy.

The first description of bladder exstrophy was noted on Assyrian tablets nearly 4000 years ago. Since then various papers has been published with an increasing rate. According to the available historical data, almost all operative techniques had been described during the last two centuries. We believe, the pioneers put a lot of work in this field and passed on their theoretic knowledge and surgical experience to the current era. Our duty is keep this treasure and add the benefits of recent new technological developments for the future care of our bladder exstrophy patients.

Tratamento da extrofia de bexiga: osteotomia posterior dos ossos ilíacos e fechamento da pelve com cinta de náilon / Treatment of bladder exstrophy: posterior osteotomy of iliac bones and closing of the pelvis with a nylon braces

Objetivo: Avaliou-se o resultado obtido em nove correções cirúrgicas de extrofia de bexiga em pacientes pediátricos. Métodos: Foi utilizada osteotomia posterior dos ossos ilíacos seguida pelo fechamento da pelve com cinta de náilon. Os procedimentos foram realizados em dois tempos cirúrgicos distintos com 48h de intervalo. Resultado: A média de idade foi de 17,6 meses. Cinco pacientes eram do sexo masculino. O seguimento médio foi de 32 meses. Conclusão: Os resultados finais foram animadores, mesmo nos pacientes que apresentaram complicações pós-operatórias como infecções e deiscência.

Objective: The authors evaluated the results obtained in nine surgical correction of bladder exstrophy in pediatric patients. Methods: We used posterior osteotomy of pelvic iliac bones followed by closing with a nylon brace. The procedures were performed in two different surgical times with intervals of 48 hours. Results: The mean age was 17.6 months. Five patients were male. The mean follow-up was 32 months. Conclusion: The final results were encouraging even in patients who had postoperative complications such as infection and dehiscence.

Management of difficult cases in female urology and neurourology at the Reed M. Nesbit society meeting. Festschrift in honor of Edward J. McGuire, MD.

This is a panel discussion of seven complex urologic cases in female urology and neurourology. Differences in diagnosis and management are discussed by this international panel of experts.

Our initial experience with the technique of complete primary repair for bladder exstrophy.

OBJECTIVE: We reviewed our initial results with complete primary repair of exstrophy in regard to continence status and the need for subsequent continence procedures. PATIENTS AND METHODS: We performed a retrospective review of our surgical records from 1996 to 2008 to identify all patients with bladder exstrophy managed at our center. RESULTS: Sixteen children were closed successfully. Six patients (37.5%) experienced complications: umbilical hernias in two, transient penopubic fistula in three, and subcoronal fistula due to meatal stenosis in one. Of the 12 males, seven (58.3%) were left with a hypospadias at the time of primary closure. Two (22.2%) children required a formal bladder neck reconstruction to achieve continence. Bladder augmentation and continent catheterizable stoma was performed in four cases (44.4%), and bladder neck injection in one case (11.1%). Bladder neck closure was also performed in another child following primary closure. Three of these children are continent and void spontaneously (33.3%). The remaining six require clean intermittent catheterization four to six times a day, resulting in four (44.4%) being continent. The number of continence procedures and mean number per patient were 15 and 1.66, respectively. CONCLUSION: Our early experience with this technique has been encouraging, with few major complications, a highly successful closure rate and a cosmetically normal result.

Bladder exstrophy masquerading as a pelvic fracture.

Bladder exstrophy-epispadias complex is a rare spectrum of congenital anomalies that includes a midline abdominal wall defect and a widened pelvis with an anterior diastasis. Our patient was involved in a motorcycle accident with severe multiple injuries and concomitant bladder extrophy. In a unique and urgent clinical setting, his congenital pubic diastasis was initially misdiagnosed as a traumatic finding. A 21-year-old man presented with pelvic and extremity injuries following a motorcycle accident. Multiple fractures in the lower and upper extremities were diagnosed. Marked deformity and diastases of the pubic bones were observed on pelvic inspection. Ninety minutes later, hemodynamic deterioration ensued and was thought to be related to internal pelvic bleeding. The patient was prepared for immediate pelvic stabilization with an external fixator; however, after reevaluation, an intact posterior pelvic complex and lack of a hematoma was observed on a computed tomography scan. The stability of the pelvis was tested under an image intensifier. No instability was present, and pelvic injury was ruled out. Exstrophy-epispadias syndrome constitutes a potential pitfall in emergency trauma medicine. As demonstrated in the present case, in the emergency management of an unstable trauma patient, nontraumatic etiologies are often not considered in the differential diagnosis of pelvic diastasis. Avoiding false diagnosis and needless procedures necessitates familiarity with this condition.

The exstrophy-epispadias complex.

Patients with the exstrophy-epispadias complex are one of the most challenging groups encountered by pediatric urologists. They generally require surgery involving several reconstruction techniques, usually performed after the first week of life. Common problems in subsequent years include issues related to continence, sexual function, and the appearance of the lower abdomen and genitals. This article reviews major publications over the last few years related to managing patients with this rare, complex, congenital genitourinary anomaly.

Gender identity outcome in female-raised 46,XY persons with penile agenesis, cloacal exstrophy of the bladder, or penile ablation.

This review addresses the long-term gender outcome of gender assignment of persons with intersexuality and related conditions. The gender assignment to female of 46,XY newborns with severe genital abnormalities despite a presumably normal-male prenatal sex-hormone milieu is highly controversial because of variations in assumptions about the role of biological factors in gender identity formation. This article presents a literature review of gender outcome in three pertinent conditions (penile agenesis, cloacal exstrophy of the bladder, and penile ablation) in infancy or early childhood. The findings clearly indicate an increased risk of later patient-initiated gender re-assignment to male after female assignment in infancy or early childhood, but are nevertheless incompatible with the notion of a full determination of core gender identity by prenatal androgens.

[Genetic and molecular biological aspects of the bladder exstrophy-epispadias complex (BEEC)]. / Genetische und molekularbiologische Aspekte des Blasenekstrophie-Epispadie-Komplexes (BEEK).

The bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia. The incidence varies with regard to ethnical background, sex, and phenotypic expression, and an incidence of 1:20,000 to 1:80,000 has been observed in the middle European population. No gene defect has been attributed to BEEC thus far and chromosomal aberrations or genetic syndromes associated with BEEC have only rarely been reported. According to epidemiological data, a complex genetic as well as a multifactorial mode of inheritance could underlie BEEC. However, no single teratogenic agent or environmental factor has been identified, which could play a dominant role in the expression of the BEEC.A risk of recurrence of 0.5-3% has been described in families with one affected subject. These values correspond to an increased recurrence risk estimated to be as high as 200- to 800-fold when compared to the common population. Due to the paucity of affected sib pairs and suitable multiplex families, conventional linkage analysis to identify candidate genes causally related with BEEC appears to be unfeasible. Large association studies and consecutive linkage disequilibrium mapping should therefore lead to the identification of candidate genes. Also new methods including matrix-based comparative genomic hybridization (CGH) are promising and have successfully been used in the past (e.g., CHARGE association). Moreover, the low incidence of the BEEC requires close cooperation between clinicians in the operative and nonoperative specialties as well as geneticists for successful gene search.

Twin pregnancy achieved through TESE in an adult male exstrophy.

Bladder exstrophy is a rare anomaly, it compromises bladder functions, and in males it occurs with an impairment of reproductive functions, because of erectile and ejaculatory deficit. Advancements in the surgical treatment of bladder exstrophy have allowed an improvement of the bladder functions while spontaneous conception is still impaired. This is a case report of a pregnancy and subsequent birth of twins following testicular sperm extraction, on a man born with classical bladder exstrophy with infertility due to an ejaculation.

New methods of bladder augmentation.

Gastrointestinal segments are commonly used for bladder replacement or repair. However, when gastrointestinal tissue is in contact with the urinary tract, several complications may ensue. Recent surgical approaches have relied on native urological tissue for reconstruction. These are based on sound surgical principles, allowing for the exclusion of tissue that is not urological. De-epithelialized bowel segments, either alone or over native urothelium, have also been used. An experimental system of progressive dilatation for ureters and bladders has been proposed. This appears promising, although it has yet to be attempted clinically. There has been a resurgence of interest in the use of acellular collagen-based matrices as scaffolds for bladder regeneration; experimental work is currently underway. Recently, functional bladder tissue has been engineered using selective cell transplantation. This technique uses autologous cells, so avoiding rejection. Tissue is obtained from the host, the cells then dissociated and expanded in vitro, re-attached to a matrix and implanted into the same host. Clinical trials are currently being arranged. Even though the use of bowel for bladder tissue replacement was first proposed over 100 years ago, it remains the gold standard, despite its associated problems. It is evident that urothelial-urothelial anastomoses are preferable functionally. Experience is currently being gained with the recent clinical and experimental approaches to augmentation cystoplasty. It is hoped that this will result in more technologies and methods for bladder augmentation.

Hip configuration and function in bladder exstrophy treated without pelvic osteotomy.

Nine children with congenital bladder exstrophy treated without pelvic osteotomy were analyzed clinically and radiologically at a mean age of 13 years (range 9-16 years). The acetabular and femoral version angles were measured by computed tomography (CT) imaging. Two of the children had a slight waddling gait, but none of them had any pain and they could participate in sports without problems. They had a normal range of hip movements and a normal foot progression angle. The acetabulum was retroverted by an average of 5 degrees, but was balanced by an increased anteversion of the femur which on the average was 10 degrees-20 degrees higher than normal. The femoral head in all hips was spherical, and no hip showed dysplasia. In bladder exstrophy, retroversion of the acetabulum was balanced by an increased anteversion of the femur, resulting in a normal range of hip movements and a normal gait in later childhood.

[Use of hypnosis in multimodal treatment of children with urologic diseases]. / Primenenie gipnoza v kompleksnom lechenii detei s urologicheskimi zabolevaniiami.

Experience in the use of hypnosis in complex treatment of 75 children with urological diseases at an in-patient hospital is generalized. In patients with total epispadias, exstrophy and trauma of the urinary bladder postoperative hypnotherapy helped in training and restoration of micturition as a result of which a second operative intervention was not needed. After removal of a drain which had been inserted for a long time for urethral stricture suggestions made during hypnosis allayed fear and pain during micturition and thus significantly contributed to the restoration of this act. In children with neurogenous urinary bladder and valve of the posterior urethra hypnotherapy was successfully applied after dissection or cauterization of the valve to remove the syndrome of day and night urinary incontinence. Thus, the function of micturition may be restored most fully only by an effect exerted on all links of the pathological process.