Vesicoureteric reflux and videourodynamic studies: Results of a prospective study after three years of follow-up

Objective. To study prospectively the influence of videourodynamic studies on the management of children with vesicoureteric reflux. Methods. One hundred one children with reflux were investigated routinely with videourodynamic studies, as well as renal scans, ultrasound studies, and/or intravenous urograms. The studies were repeated at one, three, and five years. If bladder instability was demonstrated, the primary treatment consisted of anticholinergic drugs and antibiotics, regardless of the grade of reflux. In reflux Grades IV and V with instability and renal scars, surgery was performed. In case of a stable bladder, reflux Grades I–III received antibacterial treatment, while surgical correction was used for reflux Grades IV and V. Results. The results of three years of follow-up of 101 children are reported. Bladder instability was found in 39 children. Thirty of them with reflux Grades I–-IV and instability could be managed with anticholinergic and antibacterial drugs, while 9 needed surgical correction. Conclusions. A voiding cystourethrogram is only sufficient for the detection of reflux but for correct management of these children a (video) urodynamic study is mandatory. After treatment of frequently found bladder dysfunction, the reflux will disappear in the majority of cases

Prenatal diagnosis, management and outcome of fetal uretero-pelvic junction obstruction

Abstract Prenatal diagnosis, management and outcome were studied retrospectively in 24 cases of unilateral and bilateral uretero-pelvie junction obstruction (UPJO). Moderate-to-marked pelvic dilatation was documented in 19 out of 24 cases. The low morbidity and mortality observed in this study are probably determined by the late (third trimester) detection of UPJO, resulting in an underestimation of the prevalence of more severe renal pathology. Amniotic fluid was increased in 4 out of 14 cases of unilateral UPJO and in 5 out of 10 cases of bilateral UPJO, the underlying mechanism of which is still unclear. There was no oligohydramnios. The incidence of extrarenal structural pathology was low, i.e., 3 out of 24 cases. A close agreement could be demonstrated between pre- and postnatal sonographic grading of pelvic dilatation. However, postnatal ultrasonic grading of pelvic dilatation correlated poorly with the degree of functional obstruction as determined by IVP and lasix renography. Despite the severity of pelvic dilatation in the majority of cases, enlarged kidneys were revealed by postnatal clinical examination in only three instances, underlining the importance of prenatal sonographic detection of UPJO

Satisfaction with penile appearance after hypospadias surgery: The patient and surgeon view

Purpose: We studied the degree of agreement between hypospadias patient and surgeon satisfaction with the cosmetic surgical result, and the relation between penile length, meatal position and patient satisfaction. Materials and Methods: Cosmetic and functional results in 35 boys with hypospadias were assessed, and a standardized questionnaire was completed by patients and surgeon. Results: There was hardly any agreement between patient and surgeon satisfaction with patient penile appearance. Patients were less satisfied than the surgeon. No significant correlation was noted between penile satisfaction and penile length. Patients with a retracted meatus were less satisfied with the meatal position than those with a glanular meatus. Of the 35 patients 4 underwent repeat surgery after our study. Conclusions: Hypospadias surgeons should explicitly ask if patients are satisfied and they should follow patients through adolescence

Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability

Mutations in the androgen receptor (AR) gene result in a wide range of phenotypes of the androgen insensitivity syndrome (AIS). Inter- and intrafamilial differences in the phenotypic expression of identical AR mutations are known, suggesting modifying factors in establishing the phenotype. Two 46,XY siblings with partial AIS sharing the same AR gene mutation, R846H, but showing very different phenotypes are studied. Their parents are first cousins. One sibling with grade 5 AIS was raised as a girl; the other sibling with grade 3 AIS was raised as a boy. In both siblings serum levels of hormones were measured; a sex hormone-binding globulin (SHBG) suppression test was completed; and mutation analysis of the AR gene, Scatchard, and SDS-PAGE analysis of the AR protein was performed. Furthermore, 5alpha-reductase 2 expression and activity in genital skin fibroblasts were investigated, and the 5alpha-reductase 2 gene was sequenced. The decrease in SHBG serum levels in a SHBG suppression test did not suggest differences in androgen sensitivity as the cause of the phenotypic variation. Also, androgen binding characteristics of the AR, AR expression levels, and the phosphorylation pattern of the AR on hormone binding were identical in both siblings. However, 5alpha-reductase 2 activity was normal in genital skin fibroblasts from the phenotypic male patient but undetectable in genital skin fibroblasts from the phenotypic female patient. The lack of 5alpha-reductase 2 activity was due to absent or reduced expression of 5alpha-reductase 2 in genital skin fibroblasts from the phenotypic female patient. Exon and flanking intron sequences of the 5alpha-reductase 2 gene showed no mutations in either siblin

Langetermijnresultaten van continent katheteriseerbare urostoma’s bij volwassenen met niet-neurogene of neurogene blaasontledigingsstoornissen

The objective was to evaluate the long-term results after the construction of a continent catheterizable urinary conduit in adults. We retrospectively reviewed the charts of 41 adults who received a continent catheterizable urinary conduit and extracted indications and complications (29/41 women, average age 32, median follow-up durations 52 months, 48% ≥1 reoperation). Patients who were still using the conduit during this research (n = 32) were sent a questionnaire about their impression of improvement, continence and catheterization problems. 24 patients completed the questionnaire and on average reported a ‘much better’ situation. In conclusion, the construction of a continent catheterizable urinary conduit in adults is associated with a high complication and reoperation rate. Nevertheless, patients perceive improvement compared to before the construction of the stoma

MIB-1 (KI-67) proliferation index and cyclin-dependent kinase inhibitor p27(Kip1) protein expression in nephroblastoma

PURPOSE: A number of studies have indicated that the tumor proliferation marker MIB-1 and cell cycle inhibitor p27(Kip1) expression are of prognostic importance in a variety of cancers. The present study was performed to evaluate the prognostic value of these molecules in Wilms' tumors. EXPERIMENTAL DESIGN: MIB-1 and p27(Kip1) expressions were investigated by the means of immunohistochemical analysis of 62 Wilms' tumor. Patients were preoperatively treated by chemotherapeutic agents and had a mean follow-up of 5.7 years. RESULTS: MIB-1 and p27(Kip1) were expressed in normal kidney tissues and in the three main components of Wilms' tumor, i.e., the blastemal, epithelial, and stromal cells. In Wilms' tumors, the percentage of MIB-1-positive cells in the blastema ranged between 0 and 42% (mean, 9.4%) and in the epithelial component between 0 and 53% (mean, 19.9%), with a significant difference (P < 0.01). The percentage of blastemal p27(Kip1)-positive cells ranged between 3 and 85% (mean, 55.1%) and for the epithelial component between 1 and 87% (mean, 59%). There was a significant inverse relationship between blastemal MIB-1 and p27(Kip1) expression in Wilms' tumor. Univariate analysis showed that blastemal MIB-1 and p27(Kip1) expression were indicative for clinical progression and tumor-specific survival. In a multivariate analysis, blastemal MIB-1 and p27(Kip1) protein expression proved to be an independent prognostic for clinical progression besides stage. CONCLUSIONS: It was concluded that both MIB-1-based proliferative activity and p27(Kip1) protein expression in the blastema have prognostic impact in Wilms' tumor

Expression and prognostic value of Wilms' tumor 1 and early growth response 1 proteins in nephroblastoma

Wilms' tumor is one of the most common solid tumors of children. The protein product of the tumor-suppressor gene, Wilms' tumor 1 (WT-1), binds to the same DNA sequences as the protein product of the early growth response 1 (EGR-1) gene. There is experimental evidence that EGR-1 is involved in controlling cell growth. The expression of both genes in Wilms' tumor was studied by others, mainly at the mRNA level. The present study evaluates the prognostic value of WT-1 and EGR-1 in 61 Wilms' tumors of chemotherapeutically treated patients at the protein level, using an immunohistochemical approach. WT-1 was expressed in normal kidney tissues and in the blastemal and epithelial component of Wilms' tumor, whereas stromal tissue was negative. EGR-1 was expressed in normal kidney tissues and in the three main cell types of Wilms' tumor. In 59 and 56% of Wilms' tumor, the blastemal cells stained for WT-1 and EGR-1, respectively. The blastemal expression of WT-1 and EGR-1 and the epithelial expression of WT-1 were statistically significantly correlated with clinical stage. WT-1 immunoreactivity correlated with EGR-1 expression. Univariate analysis showe

A high hypospadias rate in The Netherlands

BACKGROUND: Reports on increasing hypospadias trends are based on birth defect registries, which are prone to inaccuracy. We assessed the prevalence of hypospadias precisely, by prospective examination of all newborns in Rotterdam over a 2-year period. METHODS: A total of 7292 consecutive male births were examined for the presence of hypospadias, classified by severity. RESULTS: The frequency of hypospadias in newborn boys was 0.73% (53/7292). The rate among live births was 38 per 10 000, which is 6 times the previously reported rate for the Southwestern Netherlands (6.2) (P < 0.0001). This registry excludes glandular hypospadias. Without glandular cases, our rate is 26 per 10 000, which is still 4-fold higher (P < 0.0001). The ratio of minor to major hypospadias was 0.3. In 79% of cases, surgery was indicated. CONCLUSIONS: We found a 4-fold higher than expected hypospadias rate, which may be explained by case ascertainment differences. The proportion of major cases was higher than generally assumed. This study provides evidence for substantial geographical differences. Explanations for temporal and geographical differences need to be explored. To monitor hypospadias rates and trends accurately, complete case ascertainment, including standardized classification of severity, is warranted