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  • 1
    Keywords: OUTCOMES ; ANOMALIES ; RECONSTRUCTION ; CHILDHOOD ; TERM-FOLLOW-UP ; ADOLESCENCE ; FERTILITY ; EPISPADIAS COMPLEX ; SOCIAL INTEGRATION ; PATIENTS BORN
    Abstract: BACKGROUND: The bladder exstrophy-epispadias complex (BEEC) comprises a spectrum of congenital anomalies that represents the severe end of urorectal malformations, and has a profound impact on continence as well as sexual and renal functions. OBJECTIVE: The relation between severity of BEEC and its associated functional impairments, on one hand, and the resulting restrictions in quality of life and potential psychopathology determine the patients' outcome. It is important for improving further outcome to identify BEEC-related sources of distress in the long term. Genital function and sexuality becomes an important issue for adolescent and adult BEEC individuals. Hence, the present study focused on sexual function and psychological adaption in patients with BEEC. STUDY DESIGN: In a multicenter study 52 patients (13 females, 39 males) with classic bladder exstrophy (BE) with their bladders in use were assessed by a self-developed questionnaire about sexual function, and psychosexual and psychosocial outcome. The patients were born between 1948 and 1994 (median age 31 years). RESULTS: Twelve of 13 (92%) females and 25 of 39 (64%) males with classic BE had answered the questions on sexual function. Of these, 50% females and 92% males answered that they masturbated. Females had sexual intercourse more frequently. Six (50%) females affirmed dyspareunia whereas only two (8%) males reported pain during erection. Eight (67%) females specified having orgasms. Eighteen (72%) males were able to ejaculate. Two males and none of the females lived in a committed partnership (Figure). Two (15%) females and 13 (33%) males answered all psychosocial questions. The majority of these patients had concerns about satisfactory sexuality and lasting, happy partnerships. A minority of patients of both sexes were willing to answer psychosocial questions. Sexual activity and relationships of many adult BE patients seems to be impaired. Not surprisingly, sexual activity and awareness were different in males and females even in a multi-organ anomaly. DISCUSSION: To date, one of the main goals of the medical treatment of BEEC/BE patients is to enable normal sexual life and fertility. However, only a few outcome studies have focused on these issues with contradicting results, most of them not using standardized outcome measures. In accordance with other studies, our female BE patients have dyspareunia and most of our male BE patients were able to ejaculate. But the question of normal force of ejaculation, ejaculated volume, or semen analysis remains unanswered. Despite partial confirmation of previous findings, there is inconsistency referring to the outcome measured by the available studies. This might in part be explained by the fact that, other than this study, most previous studies are the result of single-institution experience. Thus, selection bias in the patient sampling due to different a clinical collective in different hospitals may be the consequence. Furthermore, patients' honesty and self-reflection in answering difficult questions regarding their sexual and cosmetic impairments is questionable. In addition, studies include a wide range of age groups and are connected with this life period. Fears and condition-specific anxieties might change over time. Hence, the strengths of this study are the nationwide and treating physician-independent data acquisition as well as the large sample size of adult patients with a very rare congenital malformation. Unfortunately, more detailed analyses on sexual function and current psychosocial situation, for example correlation of data with clinical symptoms such as continence status, was not possible as data were mainly not answered by patients. CONCLUSION: To improve the quality of life of patients with BEEC/BE, treatment and follow-up should emphasize physical but also psychological care in these patients. Physicians should further re-evaluate their preconceptions and should take care of the patients
    Type of Publication: Journal article published
    PubMed ID: 25986209
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  • 2
    Keywords: GENES ; PROJECT ; OF-THE-LITERATURE ; FAMILIES ; EPISPADIAS COMPLEX BEEC ; imputation ; DYSREGULATION ; GUDMAP ; SALL1 ; PLAYS
    Abstract: 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 x 10(-5); follow-up: P = 0.0025; combined: 1.09 x 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.
    Type of Publication: Journal article published
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  • 3
    Keywords: PROTEINS ; DIFFERENTIATION ; SONIC HEDGEHOG ; FAMILIES ; REQUIREMENT ; progenitor ; UPSTREAM ; MALFORMATIONS ; EPISPADIAS COMPLEX ; HOMEODOMAIN
    Abstract: The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the uro-rectal malformation spectrum, and is thought to result from aberrant embryonic morphogenesis of the cloacal membrane and the urorectal septum. The most common form of BEEC is isolated classic bladder exstrophy (CBE). To identify susceptibility loci for CBE, we performed a genome-wide association study (GWAS) of 110 CBE patients and 1,177 controls of European origin. Here, an association was found with a region of approximately 220kb on chromosome 5q11.1. This region harbors the ISL1 (ISL LIM homeobox 1) gene. Multiple markers in this region showed evidence for association with CBE, including 84 markers with genome-wide significance. We then performed a meta-analysis using data from a previous GWAS by our group of 98 CBE patients and 526 controls of European origin. This meta-analysis also implicated the 5q11.1 locus in CBE risk. A total of 138 markers at this locus reached genome-wide significance in the meta-analysis, and the most significant marker (rs9291768) achieved a P value of 2.13 x 10-12. No other locus in the meta-analysis achieved genome-wide significance. We then performed murine expression analyses to follow up this finding. Here, Isl1 expression was detected in the genital region within the critical time frame for human CBE development. Genital regions with Isl1 expression included the peri-cloacal mesenchyme and the urorectal septum. The present study identified the first genome-wide significant locus for CBE at chromosomal region 5q11.1, and provides strong evidence for the hypothesis that ISL1 is the responsible candidate gene in this region.
    Type of Publication: Journal article published
    PubMed ID: 25763902
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  • 4
    Abstract: Previously genome-wide association methods in patients with classic bladder exstrophy (CBE) found association with ISL1, a master control gene expressed in pericloacal mesenchyme. This study sought to further explore the genetics in a larger set of patients following-up on the most promising genomic regions previously reported. Genotypes of 12 markers obtained from 268 CBE patients of Australian, British, German Italian, Spanish and Swedish origin and 1,354 ethnically matched controls and from 92 CBE case-parent trios from North America were analysed. Only marker rs6874700 at the ISL1 locus showed association (p = 2.22 x 10-08). A meta-analysis of rs6874700 of our previous and present study showed a p value of 9.2 x 10-19. Developmental biology models were used to clarify the location of ISL1 activity in the forming urinary tract. Genetic lineage analysis of Isl1-expressing cells by the lineage tracer mouse model showed Isl1-expressing cells in the urinary tract of mouse embryos at E10.5 and distributed in the bladder at E15.5. Expression of isl1 in zebrafish larvae staged 48 hpf was detected in a small region of the developing pronephros. Our study supports ISL1 as a major susceptibility gene for CBE and as a regulator of urinary tract development.
    Type of Publication: Journal article published
    PubMed ID: 28176844
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  • 5
    Abstract: 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.
    Type of Publication: Journal article published
    PubMed ID: 27480467
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