Efficacy and Tolerability of Solifenacin 5 mg Fixed Dose in Korean Children with Newly Diagnosed Idiopathic Overactive Bladder: a Multicenter Prospective Study

We investigated the efficacy and tolerability of solifenacin 5 mg fixed dose in children with newly diagnosed idiopathic overactive bladder (OAB). A total of 34 children (male/female patients = 16/18) aged under 13 years (mean age: 7.2 +/- 2.3; range: 5-12) who were newly diagnosed with OAB from January 2012 to September 2014 were prospectively evaluated with open-label protocol. All patients were treated with solifenacin 5 mg fixed dose once daily for at least 4 weeks. The efficacy and tolerability of solifenacin were evaluated 4, 8, and 12 weeks after the initiation of treatment. The mean voiding frequency during daytime was decreased from 9.4 +/- 3.0 to 6.5 +/- 2.3 times after the 12-week treatment (P<0.001). The mean total OAB symptom score (OABSS) decreased from 7.7 +/- 4.2 to 3.1 +/- 3.1 after the 12-week treatment (P<0.001). The urgency and urgency urinary incontinence (UUI) domains significantly improved from the 12-week treatment, and complete resolution of urgency occurred in 38.9% of patients and the percentage of children with UUI among urgent patients decreased from 79.4% to 57.1%. According to 3-day voiding diaries, the average bladder capacity increased from 90.4 +/- 44.4 to 156.2 +/- 67.3 mL (P<0.001). Drug-induced adverse effects (AEs) were reported in 7 patients (20.6%). Our results indicate that solifenacin 5 mg fixed dose is effective against OAB symptoms, and its tolerability is acceptable without significant AEs in children with OAB.ope

The South African guidelines on enuresis-2017

Introduction: Enuresis (or Nocturnal Enuresis) is defined as discreet episodes of urinary incontinence during sleep in children over 5 years of age in the absence of congenital or acquired neurological disorders. Recommendations: Suggestions and recommendations are made on the various therapeutic options available within a South African context. These therapeutic options include; behavioural modification, pharmaceutical therapy [Desmospressin (DDAVP), Anticholinergic (ACh) Agents, Mirabegron (beta 3-adrenoreceptor agonists), and Tricyclic Antidepressants (TCA)], alternative treatments, complementary therapies, urotherapy, alarm therapy, psychological therapy and biofeedback. The role of the Bladder Diary, additional investigations and Mobile Phone Applications (Apps) in enuresis is also explored. Standardised definitions are also outlined within this document. Conclusion: An independent, unbiased, national evaluation and treatment guideline based on the pathophysiological subcategory is proposed using an updated, evidence based approach. This Guideline has received endorsement from the South African Urological Association, Enuresis Academy of South Africa and further input from international experts within the field

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

BACKGROUND: Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop a targeted next-generation sequencing (NGS) assay to diagnose mutations and potentially identify novel genes mutated in this group of disorders. METHODS: We designed an NGS gene panel that targets 585 known and candidate genes in orodental disease. We screened a cohort of 101 unrelated patients without a molecular diagnosis referred to the Reference Centre for Oro-Dental Manifestations of Rare Diseases, Strasbourg, France, for a variety of orodental disorders including isolated and syndromic amelogenesis imperfecta (AI), isolated and syndromic selective tooth agenesis (STHAG), isolated and syndromic dentinogenesis imperfecta, isolated dentin dysplasia, otodental dysplasia and primary failure of tooth eruption. RESULTS: We discovered 21 novel pathogenic variants and identified the causative mutation in 39 unrelated patients in known genes (overall diagnostic rate: 39%). Among the largest subcohorts of patients with isolated AI (50 unrelated patients) and isolated STHAG (21 unrelated patients), we had a definitive diagnosis in 14 (27%) and 15 cases (71%), respectively. Surprisingly, COL17A1 mutations accounted for the majority of autosomal-dominant AI cases. CONCLUSIONS: We have developed a novel targeted NGS assay for the efficient molecular diagnosis of a wide variety of orodental diseases. Furthermore, our panel will contribute to better understanding the contribution of these genes to orodental disease. TRIAL REGISTRATION NUMBERS: NCT01746121 and NCT02397824.journal articleresearch support, non-u.s. gov't2016 Feb2015 10 26importe