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Introduction: Drug related problems (DRP) can lead to severe consequences in kidney recipients. The aim of the study was to assess the impact of the clinical pharmacist interventions on the incidence of DRP., Method: The number of DRP were evaluated according to 3periods: Without intervention, with medication reconciliation at admission, and with medication reconciliation at admission associated with an interview with the clinical pharmacist at discharge., Results: Patients concerned were mainly men, 55years old (median age), stage3 of CKD, transplanted for less than 3months or more than 1year, with cardiovascular risk factors and receiving an average of 9drugs/day. Among the DRP, 20% were avoidable and severe in most cases. In period1, 27.7% patients had at least 1DRP, in period2, 21.3% patients had at least 1DRP, and in period3, 17.4% of patients had at least 1DRP (P=0.03). One hundred and ten patients had medication reconciliation at admission with a mean of 0.6unintentional discrepancies per patient (omission in 81% of cases). The main drugs involved concerned the digestive-metabolic (24.5%), cardiovascular (23%), and nervous (23%) system. Sixty-eight interviews at discharge were realized and revealed self-medication habits., Conclusion: Our study shows that medication reconciliation at admission associated with an interview with the clinical pharmacist at discharge can help to reduce DRP in kidney recipients. Further studies are needed to confirm our results., (Copyright © 2017 Société francophone de néphrologie, dialyse et transplantation. Published by Elsevier Masson SAS. All rights reserved.)

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., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/)

Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on four families, three of them consanguineous, with an identical phenotype, characterized by significant short stature with brachyolmia and hypoplastic amelogenesis imperfecta (AI) with almost absent enamel. This phenotype was first described in 1996 by Verloes et al. as an autosomal recessive form of brachyolmia associated with AI. Whole-exome sequencing resulted in the identification of recessive hypomorphic mutations including deletion, nonsense and splice mutations, in the LTBP3 gene, which is involved in the TGF-beta signaling pathway. We further investigated gene expression during mouse development and tooth formation. Differentiated ameloblasts synthesizing enamel matrix proteins and odontoblasts expressed the gene. Study of an available knockout mouse model showed that the mutant mice displayed very thin to absent enamel in both incisors and molars, hereby recapitulating the AI phenotype in the human disorder., (© The Author 2015. Published by Oxford University Press.)

Caries experience was studied in 18 young patients dialyzed for chronic renal failure and aged 7 to 17 years. The mean plaque index (Silness and Löe, 1964) was 1.89 +/- 0.15. Beside abundant plaque, these patients presented with poor oral hygiene and a food intake rich in sugars. Despite these unfavourable factors, caries experience was low. Of a total of 18 patients, ten (56%) had a DMF of 0. In addition, 11 subjects presented dental hypoplasias on more than two teeth. In these patients, the pH of whole saliva was determined at the beginning of the dialysis at time T and at the end of the dialysis at time To. The values at time T were always higher than those of time To. The mean pH at time T was 8.58 +/- 0.01 and the mean pH at time To was 8.09 +/- 0.01. These high salivary pH values are related to the low caries experience noted in these patients.

The biochemical composition of unstimulated whole saliva was studied on ten children suffering from chronic renal failure and who, at the same time, displayed a very low caries activity. Various salivary components were studied before (T) and after (To) dialysis and were compared with similar elements of a control group, as well as with blood values. A mean salivary urea concentration of 513 +/- 210 mg/100 ml was found prior to dialysis, whereas after treatment this value dropped to 241 +/- 82 mg/100 ml, about twice as much as in the control group, 110 +/- 48 mg/100 ml. The mean urea concentrations in blood at T and To were respectively 196 +/- 38 mg/100 ml and 53 +/- 22 mg/100 ml. The various free amino acids in the whole saliva of these patients showed different changes in their concentrations as a result of dialysis, with the basic amino acids being considerably increased. Blood electrolytes remained close to the normal range, although calcium was depleted and magnesium lowered by a factor of 10 when compared before and after dialysis, as well as versus the control group.