Search results for "epispadias"
showing 10 items of 23 documents
SLC20A1 Is Involved in Urinary Tract and Urorectal Development
2020
Previous studies in developing Xenopus and zebrafish reported that the phosphate transporter slc20a1a is expressed in pronephric kidneys. The recent identification of SLC20A1 as a monoallelic candidate gene for cloacal exstrophy further suggests its involvement in the urinary tract and urorectal development. However, little is known of the functional role of SLC20A1 in urinary tract development. Here, we investigated this using morpholino oligonucleotide knockdown of the zebrafish ortholog slc20a1a. This caused kidney cysts and malformations of the cloaca. Moreover, in morphants we demonstrated dysfunctional voiding and hindgut opening defects mimicking imperforate anus in human cloacal exs…
Murine expression and mutation analyses of the prostate androgen-regulated mucin-like protein 1 (Parm1) gene, a candidate for human epispadias.
2012
Abstract Background Epispadias is the mildest phenotype of the human bladder exstrophy–epispadias complex (BEEC), and presents with varying degrees of severity. This urogenital birth defect results from a disturbance in the septation process, during which separate urogenital and anorectal components are formed through division of the cloaca. This process is reported to be influenced by androgen signaling. The human PARM1 gene encodes the prostate androgen-regulated mucin-like protein 1, which is expressed in heart, kidney, and placenta. Methods We performed whole mount in situ hybridization analysis of Parm1 expression in mouse embryos between gestational days (GD) 9.5 and 12.5, which are e…
Sexual function in adult patients with classic bladder exstrophy: A multicenter study
2015
Summary 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 stu…
Treatment strategies and outcome of the exstrophy–epispadias complex in germany: data from the german CURE-Net
2020
Introduction: To evaluate the impact of reconstructive strategies and post-operative management on short- and long-term surgical outcome and complications of classical bladder exstrophy (CBE) patients' comprehensive data of the multicenter German-wide Network for Congenital Uro-Rectal malformations (CURE-Net) were analyzed. Methods: Descriptive analyses were performed between 34 prospectively collected CBE patients born since 2009, median 3 months old [interquartile range (IQR), 2–4 months], and 113 cross-sectional patients, median 12 years old (IQR, 6–21 years). Results: The majority of included individuals were males (67%). Sixty-eight percent of the prospectively observed and 53% of the …
Epidemiological survey of 214 families with bladder exstrophy-epispadias complex.
2007
We sought to identify causative nongenetic and genetic risk factors for the bladder exstrophy-epispadias complex.A total of 237 families with the bladder exstrophy-epispadias complex were invited to participate in the study, and information was obtained from 214 families, mainly from European countries.Two families showed familial occurrence. Male predominance was found among all subgroups comprising epispadias, classic bladder exstrophy and cloacal exstrophy, with male-to-female ratios of 1.4:1, 2.8:1 and 2.0:1, respectively (p = 0.001). No association with parental age, maternal reproductive history or periconceptional maternal exposure to alcohol, drugs, chemical noxae, radiation or infe…
Association Between Exstrophy-epispadias Complex And Congenital Anomalies: A German Multicenter Study
2018
To further investigate associated anomalies in exstrophy-epispadias complex (EEC) patients congenital uro-rectal malformations network (CURE-Net) database was systematically screened. In literature the EEC comprises a spectrum of anomalies, mainly occurring "isolated" without additional congenital defects. Nevertheless, previous epidemiological studies indicated a higher association with renal, anorectal, and lower neurotubular anomalies, which may originate from the same developmental morphogenetic fields.Seventy-three prospectively (born since 2009) and 162 cross-sectional recruited EEC patients (born 1948-2008) were analyzed. Associated anomalies were derived from patient's medical data …
Social integration, sexual behavior and fertility in patients with bladder exstrophy--a long-term follow up.
1996
After primary bladder closure or urinary diversion, other factors apart from the reconstruction itself gain importance for individuals with the exstrophy-epispadias complex: social integration and, after reaching puberty, sexuality and fertility. Between 1968 and July 1994 115 patients with bladder exstrophy or incontinent epispadias underwent surgery at our institution. A total of 104 patients could be followed, 2 of whom died in the meantime. Of the remaining 102 patients 48 attend school, 4 are in college, 40 have completed or are currently undergoing vocational training, 3 are unemployed, 1 lives in a therapeutic centre and 6 are younger than 6 years of age. A total of 95% of the patien…
The sigma rectum pouch (Mainz pouch II)
1996
A low-pressure reservoir for urine is created by antimesenteric splitting and side-to-side anastomosis of the rectosigmoid, the expectation being to obtain better continence rates and better protection of the upper tract than are achievable by ureterosigmoidostomy. Between 1990 and August 1993 the procedure was performed in 73 patients (59 adults and 14 children) whose mean age was 43.5 years. The indications were malignancy (n = 55), bladder exstrophy/epispadias (n = 14), trauma (n = 3), and sinus urogenitalis (n = 1). Of the 73 patients, 69 were followed for a mean period of 127 (range, 1-34) months. In all, 5 early complications were encountered (6.8%). In addition, 8 late complications …
Urinary diversion in bladder exstrophy and incontinent epispadias: 25 years of experience.
1995
To determine the optimal surgical approach in achieving complete urinary continence with preservation of the upper urinary tract in the exstrophy-epispadias complex we reviewed the records of patients treated at our institution.From 1968 to July 1994, 115 patients with bladder exstrophy/incontinent epispadias were treated of whom followup was available for 104 and 2 died of causes unrelated to urinary diversion. Mean followup is 16.7 years. In 43 of the 102 patients surgery was primarily performed at our institution (urinary diversion in 39, a modified Young-Dees procedure in 1 and sling plasty in 3). In another 59 patients urinary diversion was done secondarily after therapy elsewhere (bla…
Evaluation of sexual function in females with exstrophy-epispadias-complex: a survey of the multicenter German CURE-Net
2016
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.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 quest…