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Abstract: Purpose: Mastermind-like domain containing 1 (MAMLD1) is a causative gene for the fetal development of male external genitalia. Almost 10% of patients with both severe and non-severe hypospadias exhibit mutations of MAMLD1. The aim of this work was to determine whether polymorphisms of MAMLD1 are a genetic risk factor for hypospadias. Material and methods: This study included 150 hypospadias with a range of severities and 150 controls. Direct sequencing of the MAMLD1 coding exons and their flanking splice sites was performed. In silico secondary and tertiary structure prediction and accessibility of changed amino acids were evaluated using JPred, Netsurf and PHYRE software. Functional studies of the transactivation of haplotypes on Hes3 promoter were performed in vitro using cDNAs of missense variants of MAMLD1. Results: The p.P286S polymorphism was identified in 17/150 patients and 12/150 controls (11.3% vs. 8.0%, p = 0.32). The p.N589S polymorphism was identified in 22/150 patients and 12/150 controls (14.6% vs. 8.0%, p = 0.068). The double polymorphism (S-S haplotype) was present in 16/150 patients and 6/150 controls (10.6% vs. 4.0%, p = 0.044, OR = 2.87, CI from 1.09 to 7.55). The association of polymorphisms consistently revealed a modification in the structure prediction or amino acid accessibility in all three in silico models. The P286S, N589S and P286S + N589S proteins did not exhibit reduced transactivating activity on Hes3 promoter. Conclusion: Polymorphisms of MAMLD1 gene are frequent in patients with hypospadias. Although no change in transactivation was noted on Hes3 promoter, the in silico studies and the significantly increased incidence of the S-S haplotype in hypospadiac patients raise the hypothesis of a particular susceptibility conferred by these variants. [Copyright &y& Elsevier]

Purpose: The clinical benefit of sacral neuromodulation is unclear due to the paucity of randomized trial data. The purpose of this study was to evaluate sacral neuromodulation for management of urinary and fecal incontinence in a pediatric population. Materials and Methods: This multicenter, open label, randomized, crossover study included children older than 5 years. After trial stimulation of the S3 root a neuromodulator (InterStim®) was implanted on the S3 foramen. Clinical examinations, voiding and bowel diaries, and urodynamic and manometric evaluations were performed at the beginning (t1) and end (t2) of the first period, and at the beginning (t3) and end (t4) of the second period. Results: A total of 33 patients (24 boys) with a mean ± SD age of 12.22 ± 5.09 years were randomized. Etiologies were mainly of neurological origin. Incontinence was mixed urinary and fecal in 19 cases, urinary only in 9 and fecal only in 5. Cystometric bladder capacity increased during sacral neuromodulation (delta +24.27 ml vs −37.45 ml, p = 0.01). There was no significant change in other urodynamic or manometric parameters. Overall positive response rate was more than 75% for urinary (81%) and bowel (78%) function. Crossover analysis indicated that sacral neuromodulation is more effective than conservative treatment for both types of incontinence (p = 0.001). Conclusions: In a pediatric population sacral neuromodulation is effective for bladder and bowel dysfunction and should be considered before irreversible surgery. [Copyright &y& Elsevier]

Purpose: We describe urinary continence management and outcome in patients with spina bifida to identify the procedures that are most successful. Materials and Methods: In a multicenter retrospective cohort study medical charts were studied. At the same time in a cross-sectional survey sociodemographic characteristics, orthopedic features and urinary continence were described based on the frequency of leakage from the viewpoint of patients or close relatives using a Likert scale of 5 items, namely 1—leakage permanent to 5—leakage never. Results: A total of 421 patients were included, of whom 191 (45%) had been medically treated with a normal voiding pattern according to the patient viewpoint in 21%, clean intermittent catheterization in 61% and no specific bladder emptying method in 18%. The mean leakage score ± SD was 2.74 ± 1.55. On the other hand, 230 patients (55%) were surgically treated. Except for 23 patients who underwent noncontinent urinary diversion 207 were considered for treatment and continence description. The mean leakage score was 3.45 ± 1.60. An artificial urinary sphincter in male and females, and a sling or Kropp technique in females were satisfactory when bladder enlargement was not required. In cases of bladder augmentation without continent diversion an artificial urinary sphincter in males and a bladder neck sling or cinch, Kropp and Young-Dees procedures in females have provided the best results. In cases of bladder enlargement with continent urinary diversion bladder neck closure or a wrap have provided the best results whatever the patient sex. Conclusions: Many factors may influence the choice of a technique, such as patient sex, bladder characteristics or orthopedic conditions. However, since to our knowledge no randomized, controlled study has been yet performed, definitive conclusions on the best way to achieve urinary continence in patients with spina bifida cannot be established. [Copyright &y& Elsevier]

Abstract: Objective: We report a case of laparoscopic nephrectomy of a cross-fused ectopic kidney in a 4-year-old girl with renal hypertension and Fanconi anemia. Materials and methods: We performed a transperitoneal laparoscopy. Ectopic kidney resection was done after dissection of the pathological kidney and after clamping vessels, using an ultrasonic device. Hospitalization time was 4 days. Results: At 6 months, blood pressure was normalized and the patient showed an adequate growth curve. Conclusion: The transperitoneal route is very effective when a nephrectomy is necessary. It offers perfect exposure with limited risk of complications. [Copyright &y& Elsevier]