LUMBAR Syndrome and Bladder Exstrophy: A Case Report.

LUMBAR syndrome is rare with a multitude of features that requires a high index of suspicion for timely diagnosis and appropriate management. We present on a newborn female whose untreated segmental infantile hemangioma lead to poor healing of her bladder exstrophy closure. The objective of this report is to describe bladder exstrophy as a urogenital anomaly in patients with LUMBAR syndrome and the importance of balancing management of infantile hemangioma and time to surgery.

False-positive urine pregnancy screening tests are uncommon in the hospital setting among patients with bowel-containing urinary tract reconstruction.

PURPOSE: False-positive urine pregnancy screening tests (UPST) have been reported among patients with bowel-containing urinary reconstruction (BCUR). However, the true frequency of such inaccurate results, which have been attributed to urinary mucous or other proteins interfering with or mimicking the binding of beta-HCG in the assay, is unknown in this population. We sought to determine the incidence of false-positive pregnancy screening tests among this patient population at our institution. MATERIALS AND METHODS: Using existing databases of patients with spina bifida, bladder exstrophy, and genitourinary rhabdomyosarcoma, we identified female patients with BCUR who had UPST over a 10-year period as screening prior to procedures or imaging. Patient and test result information was recorded. RESULTS: A total of 120 patients with a history of BCUR were identified: 33 with spina bifida, 73 within the exstrophy-epispadias complex (EEC), and 14 with genitourinary rhabdomyosarcoma. Of this group, 46 patients (38%) had at least one UPST during the study period; 15 had 1 UPST, 6 had 2 UPSTs, 4 had 3 UPSTs, and 21 had greater than 3 UPSTs, for a total of 244 UPST in this cohort. UPSTs used at our institution included Sure-Vue brand and Alere brand (HCG sensitivity 20 mIU/ml). Types of BCUR included ileal enterocystoplasty in 25 patients, colon enterocystoplasty in 6, stomach enterocystoplasty in 5, composite enterocystoplasty in 7, and continent catheterizable channel alone (e.g. Yang-Monti, appendicovesicostomy) in 3 patients. Of the 244 UPSTs in patients with BCUR, zero (0%) were positive. CONCLUSIONS: Despite reports in the literature that false-positive UPST are common among patients with bowel-containing urinary diversions, we found no positive UPST among patients with BCUR in the healthcare setting. False-positive UPST in the home setting may be due to variability in sensitivity thresholds, binding agents, technical errors in test technique, kit quality control, or other factors.

Prenatal diagnosis of diphallia in association with bladder exstrophy: a case report.

BACKGROUND: Penile duplication or diphallia is a rare congenital anomaly with unclear pathophysiological cause. Most cases of diphallia are reported postnatally; however, today with the use of a high-resolution ultrasound device, in-uterine diagnosis of many congenital anomalies is possible. CASE PRESENTATION: Herein we report a multiparous mother at 25 weeks of gestation who referred due to an abnormal cystic structure protruding from a large abdominal wall defect located below the umbilicus that was noted during a routine exam. Target scan revealed two penile-like protrusions with an empty scrotal sac and double bladder in an otherwise normal fetus, which was confirmed postnatally. Neonatal microarray study and karyotype were normal. CONCLUSION: Diphallia could be detected prenatally as an isolated anomaly, associated with caudal duplication syndrome, or as an exstrophy-epispadias complex. As this is a rare congenital anomaly, all sonographers should be familiar with prenatal ultrasound features and associated anomalies, an important issue in prenatal counseling with parents, delivery planning, psychological support of the family, and postnatal management.

Bladder exstrophy with exstrophic rectal duplication in an infant: An extremely rare case.

Exstrophic rectal duplication and its association with bladder exstrophy and anorectal malformation is an extremely rare clinical entity. This is a report of the second case of an exstrophic rectal duplication associated with bladder exstrophy in English literature. However, it is the first case, where all these anomalies were accompanied by an anorectal malformation.

The role of anatomic pelvic dissection in the successful closure of bladder exstrophy: an aid to success.

INTRODUCTION: Classic bladder exstrophy is one of the rarest congenital anomalies compatible with life. Surgical treatment of bladder exstrophy has progressed, but the goal of surgery remains a successful primary bladder closure. Several factors have been identified to decrease the risk of failed closure, including appropriate use of osteotomy and adequate postoperative immobilization and analgesia. However, the role of the radical anatomic pelvic dissection, including dissection of the urogenital diaphragm fibers, in a successful closure has not yet been extensively explored. OBJECTIVE: The objective of this study was go examine the role of radical anatomic pelvic dissection, including dissection of the urogenital diaphragm fibers, in patients with classic bladder exstrophy. STUDY DESIGN: This was a retrospective study based on an institutional database. METHODS: A retrospective review from an institutional approved database of more than 1,300 patients with epispadias-exstrophy complex was performed. The inclusion criteria included patients with classic bladder exstrophy with at least one failed bladder closure and a reclosure at the authors' institution with a single senior surgeon. Data collection included demographics, clinical variables, and status of urogenital diaphragm fibers. Magnetic resonance imaging (MRI) scans, if available, were reviewed with a pediatric radiologist to identify urogenital diaphragm fibers. RESULTS: From the database, 93 patients met inclusion criteria. Of these patients, 74 had urogenital diaphragm fibers completely intact at the time of repeat closure, whereas 19 patients did not. There was no association with age or gender and status of urogenital diaphragm fibers. There was no association with osteotomy, the type of primary bladder closure, surgeon subspecialty, and the status of the urogenital fibers. Fourteen patients had at least two prior closures; surprisingly, 11 of these repeat closure patients still had intact urogenital fibers even after two prior closures. DISCUSSION: The recent development and application of 3D MRI-guided pelvic dissection in a large group of patients led the authors to investigate whether adequate pelvic floor dissection had been accomplished at primary or secondary closure. Several patients had MRI scans performed before repeat closure in which the urogenital diaphragm fibers were identified to be intact on imaging; this was corroborated with surgical findings. Approximately 80% of patients had their urogenital diaphragm fibers completely intact and, therefore, did not have an adequate pelvic dissection during their primary or secondary bladder closure, putting the success of their previous closures at risk. CONCLUSION: Inadequate pelvic diaphragm dissection, defined as intact urogenital diaphragm fibers, demonstrated in a large group of patients with failed exstrophy closure, may be a decisive factor in bladder closure failure. The use of 3D intra-operative image guidance may aid in a safer and more successful pelvic dissection.

Impact of pelvic immobilization techniques on the outcomes of primary and secondary closures of classic bladder exstrophy.

INTRODUCTION: A potential determinant of successful bladder closures in patients with classic bladder exstrophy (CBE) is the postoperative pelvic immobilization technique. This study investigates the success rates of primary and secondary bladder closures based on various immobilization techniques from a high-volume exstrophy center. METHODS: A prospectively maintained institutional exstrophy-epispadias complex database of 1336 patients was reviewed for patients with CBE who have undergone primary or secondary closures between 1975 and 2018 and subsequently had a known method of pelvic immobilization. Patients were divided into two groups: primary and secondary closures. Associations between closure outcomes and immobilization techniques were determined. RESULTS: A total of 476 patients with primary closures and 101 patients with secondary closures met the inclusion criteria. In total, 343 (72.1%) primary closures were successful. As shown in the table, the success rates of primary closures were highest in patients immobilized with modified Buck's and Bryant's traction (95.0% and 79.3%, respectively) and lowest in those with spica cast (49.6%). A propensity score-adjusted logistic regression (adjusting for osteotomy status, period of closure, location of closure, and closure type) revealed that modified Buck's traction had a 5.60 (95% confidence interval 1.74-23.1, p = 0.008) greater odds of success compared to spica casting during the primary closure. For the secondary closure group, there were 92 (92.1%) successful secondary closures. Success rates were highest in modified Buck's traction (97.3%) and lowest with spica casting (66.7%). DISCUSSION: This study confirms previous findings of better outcomes when patients are immobilized with external fixation and Buck's traction after adjusting for potential confounding factors. Immobilization with modified Buck's or Bryant's traction yielded significantly higher primary closure success rates when compared to spica casting. It is the authors' belief that despite a longer hospital length of stay, external fixation with Buck's traction provides the best chance of a successful closure and, thus, a financially responsible method to care for these children in the postoperative period. CONCLUSIONS: Success rates for primary closures were highest when using modified Buck's traction with external fixation and lowest for spica casts. Similarly, for secondary closures, the best outcomes were achieved using modified Buck's traction with external fixation and the lowest success rates were associated with spica casts.

Isolated bladder exstrophy in prenatal diagnosis.

PURPOSE: Isolated classic bladder exstrophy (CBE) is the most common variant of the bladder-exstrophy-epispadias complex (BEEC). The BEEC represents a spectrum ranging from isolated epispadias over CBE to the most severe form, cloacal exstrophy. We report on a series of 12 cases with CBE diagnosed prenatally and illustrate the spectrum of prenatal ultrasound findings with comparison to prior published reports on this entity. METHODS: This was a retrospective study involving 12 fetuses with CBE at two large tertiary referral centers in Germany over a 14-year period (2004-2018). RESULTS: Median diagnosis was made with ultrasound in 24 + 5 (IQR25,75: 21 + 2, 29 + 0) weeks of gestation. All fetuses presented with the pathognomonic findings non-visualization of the fetal bladder and protruding abdominal mass below the umbilical cord insertion. All fetuses showed normal kidney anatomy and normal amniotic fluid throughout pregnancy. Epispadia was visible prenatally on ultrasound in 6/8 male fetuses. 1/12 Parents opted for termination of pregnancy, 11/12 fetuses were live born and received reconstructive surgery. CONCLUSIONS: Isolated CBE is an extremely rare prenatal sonographic finding. Prenatal diagnostics should exclude additional malformations within the spectrum of cloacal malformations.

A Borderline Ovarian Tumour in a Patient with Classic Bladder Exstrophy; a Case Report.

A 37-year-old Romanian lady presented with a large pelvic mass, urosepsis and deteriorating renal function. She had undergone separation from her conjoined twin. Imaging revealed grossly abnormal anatomy and a suspicious pelvic mass. Examination was consistent with classic bladder exstrophy. Postoperative histology showed borderline ovarian tumour (BTO).

Early versus delayed closure of bladder exstrophy: A National Surgical Quality Improvement Program Pediatric analysis.

INTRODUCTION: Delayed closure of bladder exstrophy has become more popular; however, there is limited the evidence of its success. Existing literature focuses on intermediate and long-term outcomes, and short-term postoperative outcomes are limited by the small number of cases and varying follow-up methods. OBJECTIVE: The objectives of the current study were to: 1) compare 30-day complications after early and delayed closure of bladder exstrophy, and 2) evaluate practice patterns of bladder exstrophy closure. STUDY DESIGN: The National Surgical Quality Improvement Program Pediatric (NSQIPP) database from 2012 to 2015 was reviewed for all cases of bladder exstrophy closure. Early closure was defined as surgery at age 0-3 days, and delayed closure was defined as age 4-120 days at time of surgery. Demographic, clinical, and peri-operative characteristics were collected, as were postoperative complications, readmissions, and re-operations up to 30 days. Descriptive statistics were performed, and multivariate linear and logistic regression analyses were performed for salient complications. RESULTS: Of 128 patients undergoing bladder exstrophy closure, 62 were included for analysis, with 44 (71%) undergoing delayed closure. Mean anesthesia and operative times were greater in the delayed closure group, and were associated with more concurrent procedures, including inguinal hernia repairs and osteotomies. The delayed closure group had a higher proportion of 30-day complications, due to a high rate of blood transfusion (57% vs 11%). Wound dehiscence occurred in 6/44 (14%) delayed closures, as compared with 0/18 (0%) early closures. When compared with prior published reports of national data from 1999 to 2010, delayed closure was performed more frequently in this cohort (71% vs 27%). DISCUSSION: The NSQIPP provides standardized reporting of peri-operative characteristics and 30-day complications, allowing a comparison of early to delayed closure of bladder exstrophy across multiple institutions. Assessing short-term risks in conjunction with long-term follow-up is crucial for determining optimal management of this rare but complex condition. CONCLUSION: Delayed closure of bladder exstrophy is performed frequently, yet it carries a high rate of 30-day complications worthy of further investigation. This can be useful in counseling patients and families, and to understand practice patterns across the country.

Gradual bone transfer for the correction of the pubic diastasis using the Ilizarov technique in closure of bladder and cloacal exstrophy.

BACKGROUND: In the patient of the cloacal exstrophy, cloaca with local abdominal wall is disrupted and exposed inner surface of the bladder needs early closure. Pelvic osteotomies are required for severe cases whose bladder cannot be closed by the suture of soft tissue only. We developed a technique involving the gradual positioning of bone fragments using a light, Ilizarov external fixator. The usefulness of the technique was assessed. METHODS: We enrolled 3 patients with cloacal exstrophy and 1 with bladder exstrophy as a gradual transfer group and 6 patients who were treated by other osteotomies as a control group. The patients aged 6.7-8.4 months at the time of surgery were followed up for 4.0-8.6 years. An external fixator with carbon fiber half-rings was placed to internally rotate and anteriorly move the distal bone fragment over 2 weeks. Then, the bladder was closed. Computed tomography (CT) images were used to assess the pelvis form. Wound dehiscence and number of the surgeries after the osteotomies are also compared between the two groups. RESULTS: CT analysis of correction of the pelvic deformity achieved more and less decreasing its volumetric capacity in the gradual transfer group. No patients had wound dehiscence after the primary closure with pelvic osteotomy in the gradual transfer group but all had them in the control group. The mean number of the surgeries after the osteotomies were 2.25 in the gradual transfer group whereas 5.5 in the control group. CONCLUSIONS: Sufficient closure of the abdominal wall and bladder was achieved in all cases in the gradual transfer group. The correction of pelvic bones were more with less decreasing of their pelvic capacities, no patients had wound dehiscence after the closure and there was an effect to decrease the number of the surgeries after the treatment by this method.

Bladder exstrophy closure in the newborn period with external pelvic fixation performed without osteotomy: A preliminary report.

BACKGROUND: Successful primary bladder closure is the most crucial element for urinary continence in patients with classic bladder exstrophy (CBE). In the newborn period, bladder closure can be performed in the first 48 h without pelvic osteotomy or external fixation, but requires postoperative lower extremity immobilization (i.e., spica cast, Bryant's or Buck's traction). OBJECTIVE: To present a novel surgical approach for primary bladder closure for CBE using two-pin external fixation without pelvic osteotomy, and without postoperative lower extremity immobilization. STUDY DESIGN: A retrospective chart review of patients with CBE was performed at the current institution from 2000 to 2016, including all primary bladder closures with external fixation and without osteotomy or lower extremity immobilization. Patients were discharged with the external fixator in place, which was later removed in clinic. Baseline clinical and demographic variables, and follow-up data were recorded. RESULTS: Thirteen patients were analyzed; eight (61.5%) were male. Pre-operative intersymphysial distance was 3.68 ± 1.0 cm (2.0-5.0). Mean follow-up was 56.8 ± 40.3 months (10-131). One patient had a partial bladder neck dehiscence, due to pin displacement on postoperative day 1: he had the lowest gestational age of 34 weeks (Summary table). DISCUSSION: This approach used external fixation to bring the pubic bones together intra-operatively, and to decrease the tension in closing the pelvic ring and abdominal wall without osteotomy. External fixation with osteotomy and long-term immobilization, or using a spica cast without osteotomy offered the added advantage of improved wound care, due to lack of lower limb immobilization, less patient discomfort, and facilitation of mother/caregiver and newborn bonding. CONCLUSION: The two-pin external fixator without osteotomy as an adjunct to primary bladder closure in CBE patients was technically feasible. At the current institution this approach had an equivalent success rate to previous reports in the literature for primary bladder closure, decreased the length of hospital stay, and precluded the need for lower extremity immobilization. Early data for bladder capacity were encouraging.

Low-dose Human Chorionic Gonadotropin Stimulation Test as a Prognostic Incontinent Indicator in Boys With Bladder Exstrophy-epispadias Complex.

OBJECTIVE: To investigate the effect of low-dose human chorionic gonadotropin (HCG) administration on structural changes in the lower urinary tract in boys with urinary incontinence in the setting of bladder exstrophy-epispadias complex (BEEC). PATIENTS AND METHODS: We prospectively evaluated 30 patients (median age 7.5 years) with BEEC and randomly divided them into 2 groups. Patients in the HCG group were administered 250 IU HCG intramuscularly 3 times per week during a 4-week period. The other 15 patients served as the control group. The patients were followed up for a mean duration of 4 years. Incontinence rate, hormonal changes, penile length, prostate size, and bladder capacity were evaluated using 3D sonography or pelvic magnetic resonance imaging and uroflowmetry studies before and after HCG administration. RESULTS: The incontinence score improvement was significantly higher in the HCG group (P = .01). A significant increase was detected in the health-related quality of life score of both patients and parents at the final follow-up (P < .001). The total prostate size (P < .0001) and bladder capacity (P < .0001) increased significantly in all patients of the HCG group. Basal serum testosterone level increased significantly after the first (P = .001) and last (P < .001) injections with no significant increase 3 months after the last injection (P > .05). No major side effect was found following the administration of HCG, with no need for open surgical bladder neck reconstruction. CONCLUSION: Our preliminary results suggest the role of low-dose HCG in boys with BEEC suffering from urinary incontinence. The data also reveal the role of prostate enlargement in the improvement of urinary incontinence. Chronic treatment with HCG increases bladder capacity that may facilitate future reconstructive surgery.

Outcomes of seromuscular bladder augmentation versus standard ileocystoplasty: A single institution experience over 14 years.

INTRODUCTION: Ileocystoplasty is the standard technique used for bladder augmentation, and has been used widely for decades. However, it is known to be associated with complications such as stone formation, mucus production, metabolic acidosis, urinary tract infections, intestinal obstruction, and a long-term risk of bladder cancer. Seromuscular bladder augmentation (SMBA) is an alternative to the standard ileocystoplasty, and has been associated with a lower incidence of bladder stones. Few reports have been published on intermediate outcomes of SMBA. Herein, we report long-term outcomes of SMBA from a single institution compared with standard ileocystoplasty. METHODS: After Institutional Review Board approval, a retrospective chart review of all patients who underwent bladder augmentation at our institution over a 14-year period was performed. The status of patients after SMBA (10 patients) was compared according to age, sex, and diagnosis with patients who underwent traditional ileocystoplasty (30 patients). Parameters such as demographic information, pre- and postoperative bladder capacity as assessed by urodynamic studies, urinary tract infections (UTIs), bladder calculi, incontinence, need for secondary surgical procedures, and spontaneous bladder perforation were compared in the two groups. All the patients were on a clean intermittent catheterization (CIC) regimen. RESULTS: Over the study period, 10 patients underwent SMBA and 30 patients (according to age, sex, and diagnosis) underwent standard ileocystoplasty; the average age at surgery was 10.3 and 10 years respectively, with a mean follow up of 6.7 years in the SMBA group and 6 years in the ileocystoplasty group. There were no statistically significant differences in the rate of UTIs, urinary incontinence, subsequent surgery, or spontaneous bladder perforation. The mean bladder capacity increased significantly for both groups as assessed by pre- and postoperative urodynamic studies, although the difference in the rate of bladder calculi between the two groups (0 [0%] vs. 8 [27%], p = 0.06) did not reach statistical significance (Table). CONCLUSIONS: SMBA is safe and efficacious and may result in a lower rate of stone formation than standard ileocystoscopy. SMBA should be considered as a viable alternative to standard ileocystoplasty.

Evaluation of sexual function in females with exstrophy-epispadias-complex: A survey of the multicenter German CURE-Net.

OBJECTIVE: Standardized knowledge about genital function in adult female individuals with exstrophy-epispadias complex (EEC) is scarce. The aim of this study was to investigate sexual function using the standardized Female Sexual Function Index (FSFI), and to assess the influence of bladder and vaginal reconstruction and the presence of incontinence on FSFI results. METHOD: Sixty-one females (aged ≥18 years) recruited by the German multicenter network for congenital uro-rectal malformations (CURE-Net) were asked to complete the FSFI and a self-designed semi-structured questionnaire assessing comprehensive medical data, gynecological, and psychosocial items. Twenty-one eligible females (34%) returned both questionnaires (mean ± standard deviation [SD] age of 26 ± 5.1 years). RESULTS: In 43% of participants, a staged or single-staged approach had been used for reconstruction, and these had their bladder in use. A primary or secondary urinary diversion (UD) after cystectomy had been performed in 38% of participants. Of the participants, 57% lived in a committed partnership, and 62% had sexual intercourse on a regular basis, with a further 19% experiencing pain or discomfort thereby. Introitus plasty was done in 43%. Mean total FSFI for all participants was 21.3 (SD 1.9). Most domain scores of patients after introitus plasty were similar compared with those without an operative vaginal approach, except for satisfaction (p = 0.057) and pain (p = 0.024). Comparing incontinent with continent patients, significant differences were found for desire (mean 4.6 vs. 3.5, p = 0.021), lubrication (mean 3.1 vs. 4.2, p = 0.049), and satisfaction (mean 1.6 vs. 3.6, p = 0.0065). In contrast pain was not significant between groups. CONCLUSIONS: Sexual activity rate in the present study was similar to that reported in the literature (81% vs. 89%), whereas dyspareunia rate was lower in our cohort (19% vs. 24%). The risk for sexual dysfunction seems to be lower in patients reconstructed with primary or secondary UD than patients with bladder in use. It is surprising that lubrification was better after UD than after bladder neck surgery. Incontinence and in some parts the history of an introitus plasty may play an additional role in development of sexual dysfunction in EEC. Although most of the female EEC patients lived in a committed partnership and had sexual intercourse, total FSFI values <26.55 clearly indicate a risk of sexual dysfunction. Although continence itself played a major role, females reconstructed with UD seem to have better sexual function. Further evaluation of sexual outcome and improvement of care for these patients is mandatory.

Comparing the bulking effect of calcium hydroxyapatite and Deflux injection into the bladder neck for improvement of urinary incontinence in bladder exstrophy-epispadias complex.

OBJECTIVES: The aim of this study was to evaluate the efficacy of the endoscopic injection of calcium hydroxyapatite (CaHA) into the bladder neck (BN) region of patients with urinary incontinence and bladder exstrophy-epispadias complex (BEEC). PATIENTS AND METHODS: We designed a retrospective cohort study in which we retrospectively studied medical charts of female and male patients of BEEC who had undergone CaHA or Deflux injection for continence improvement between 2009 and 2014. Sixteen incontinent patients with a mean ± SD age of 8.09 ± 3.5 years received an endoscopic submucosal injection of 5.4 ml of pure CaHA powder with autologous plasma (group A). Patients in group B (N = 21), control group, with a mean ± SD age of 7.51 ± 2.8 years received Deflux injection (5.1 ml). The mean follow-up after injection was 38 ± 5.2 and 33 ± 4.1 months in groups A and B, respectively. RESULTS: No post-injection complication was detected in none of the patients during the follow-up. Eleven patients (68.75%) in group A became socially dry following 1-2 injections, the degree of incontinence was improved in 4 patients (25%), and there was no change in one patient (6.25%). However, Deflux injection resulted in complete dryness in 14 (66.66%), improvement in the degree of incontinence in 5 (23.81%) and no change in 2 patients (9.52%), leading to no significant difference in continence achievement between CaHA and Deflux groups (p = 0.9). The statistical analysis was not significantly different in terms of bladder capacity (p = 0.7) or Q max (p = 0.8). CONCLUSION: The preliminary results of this study revealed that CaHA may be applied as an affordable bulking agent in treatment of urinary incontinence in BEEC.

PLAGL1 epimutation and bladder exstrophy: Coincidence or concurrent etiology?

BACKGROUND: The bladder exstrophy-epispadias complex (BEEC) is characterized by a spectrum of genitourinary malformations. Both classical bladder exstrophy and the most severe phenotype, exstrophy of the cloaca, display omphaloceles, a cardinal anomaly of some disorders caused by altered imprinting. Therefore, we hypothesized that BEEC in some patients could occur on the basis of an undiagnosed imprinting disorder. Such altered imprinting is associated with changes in the parent-of-origin-specific DNA methylation. METHODS: We analyzed the DNA methylation of 54 imprinted loci in 23 selected patients with different BEEC subtypes (epispadias n = 1, classical bladder exstrophy n = 10, exstrophy of the cloaca n = 12) using the Infinium HumanMethylation450 BeadChip. A total of 471,722 not imprinted autosomal CpG loci and 891 imprinted CpG loci were investigated. Findings were corroborated by methylation-specific-multiplex ligation-dependent probe amplification (MS-MLPA) and microsatellite analysis. RESULTS: No significant differences in the DNA methylation of the not imprinted and imprinted CpG were observed depending on subtype of BEEC. Nevertheless, in 1 of the 23 patients who displayed a classical bladder exstrophy, we detected hypomethylation of the imprinted PLAGL1 locus in chromosome 6q24. We verified this hypomethylation by MS-MLPA and showed further the methylation loss to be caused most likely by a mosaic epimutation. CONCLUSION: Considering that it is highly unlikely to detect a PLAGL1 epimutation among 23 individuals given the low incidence of this alteration in the population, our observations further support a link between BEEC and imprinting disorders. Birth Defects Research (Part A) 106:724-728, 2016. © 2016 Wiley Periodicals, Inc.

[Bladder exstrophy: Quality of primary care and long-term prognosis]. / Blasenekstrophie : Qualität der Primärversorgung und Langzeitprognose.

BACKGROUND: It is universally agreed that successful and gentle initial bladder closure is decisive for favorable long-term outcome. Due to a number of reasons, including a lack of comparable multicenter studies, there are numerous concepts for initial exstrophy closure. DISCUSSION: Therefore, we describe our concept of delayed, staged reconstruction without osteotomy in classical bladder exstrophy, while taking into considerion the available literature on long-term follow-up as well as on own clinical and research data. CONCLUSION: Most notably there are multiple medical but also psychological advantages of a delayed procedure. Primary closure without osteotomy is feasible and has no disadvantages in the long-term follow-up when compared to the invasive procedure of osteotomy. Due to high intravesical pressure, initial bladder neck surgery might have negative effects on bladder development and on the upper urinary tract.

Role of routine cystoscopy and cystography in exstrophy-epispadias complex.

OBJECTIVE: Our institutional protocol for the treatment of exstrophy-epispadias complex includes routine endoscopic and cystographic evaluation of the bladder with the child under general anesthesia. The protocols briefly described in the literature include a cystographic evaluation and the measurement of bladder capacity, but there are no reports on concurrent endoscopic findings and the value of examinations in this setting. Our objective is to evaluate the role and necessity of our management protocol by reviewing the findings in our patients' medical charts. STUDY DESIGN: Cystoscopies are performed in children with exstrophy-epispadias complex during the second year of life and then every 18 months until a capacity of 90 mL has been reached and bladder neck reconstruction, the last stage of modern staged repair, is performed. Patients referred from other institutions are evaluated on presentation. The examinations are performed by means of a pediatric cystoscope with the child under general anesthesia. Cystography is performed under a pressure of 30 cm/H2O. The contribution of the findings of these periodic evaluations vis-à-vis the surgical findings were studied. RESULTS: The medical charts of 49 patients who had been surgically treated for exstrophy-epispadias complex in our institution between 2000 and 2014 were reviewed. Thirty patients underwent at least one evaluation. Eighteen underwent serial examinations: four underwent two procedures, eleven underwent three procedures, and three underwent four procedures. The findings in eight cases were significant and they were treated on detection: bladder neck stricture (n = 5), bladder scar bridge (n = 2), and bladder stone (n = 1). Vesicoureteral reflux was present in all 30 patients, and high-grade reflux was present in 10 patients, of whom four had a bladder neck stricture. Fourteen of the 30 patients had a bladder capacity of 90 mL on the first evaluation, as did an additional eight children during later evaluations. Bladder capacity decreased below 90 mL in one child. Seven children did not reach the target capacity (Figure). CONCLUSION: Cystoscopic and cystometrographic evaluation of an exstrophic bladder allows early diagnosis of treatable bladder pathologies and monitoring of bladder capacity. It is a valuable tool in the follow-up period preceding bladder neck reconstruction.