The association between molar incisor hypomineralization and oral health-related quality of life: a cross-sectional study

Objectives: We aimed to assess the association between molar incisor hypomineralization (MIH) and the oral health-related quality of life (OHRQoL) in a group of 7- to 14-year-old children in Berlin, Germany. Materials and methods: The cross-sectional study consisted of a consecutive sample of 317 children, aged 7-14 years (49% girls, 51% boys; mean age, 8.71). Data were collected between June 2018 and December 2019. MIH was diagnosed using the criteria of the European Academy of Paediatric Dentistry. OHRQoL was assessed using the German 19-item version of the Child Oral Health Impact Profile (COHIP-G19). Differences in COHIP-19 summary scores between controls without MIH and MIH patients and with regards to MIH severity were tested for statistical significance using t test and analysis of variance (ANOVA), respectively. Results: Data were obtained for 217 untreated MIH patients and 100 controls. OHRQoL of MIH patients was significantly more impaired than of controls indicated by COHIP-19 mean scores (60.9 +/- 10.7 vs. 67.9 +/- 7.8; p < 0.001). Patients with severe MIH (59.6 +/- 11.0) reported significantly worse OHRQoL than patients with mild MIH (63.6 +/- 9.1; p = 0.013). Conclusions: MIH has a significant negative impact on the children's OHRQoL. Patients with severe MIH experience a greater negative impact on OHRQoL than those diagnosed with mild MIH. Clinical significance: MIH is one of the major dental problems of our time; pediatric dentists should be aware of its impact on the OHRQoL of the patient

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

Abstract Background With the development of next generation sequencing technologies in France, exome sequencing (ES) has recently emerged as an opportunity to improve the diagnosis rate of patients presenting an intellectual disability (ID). To help French policy makers determine an adequate tariff for ES, we aimed to assess the unit cost per ES diagnostic test for ID from the preparation of the pre-analytical step until the report writing step and to identify its main cost drivers. Methods A micro-costing bottom-up approach was conducted for the year 2018 in a French setting as part of the DISSEQ study, a cost-effectiveness study funded by the Ministry of Health and performed in collaboration with the GAD (Génétique des Anomalies du Développement), a genetic team from the Dijon University Hospital, and a public sequencing platform, the Centre National de Recherche en Génomique Humaine (CNRGH). The analysis was conducted from the point of view of these two ES stakeholders. All of the resources (labor, equipment, disposables and reagents, reusable material) required to analyze blood samples were identified, collected and valued. Several sensitivity analyses were performed. Results The unit nominal cost per ES diagnostic test for ID was estimated to be €2,019.39. Labor represented 50.7% of the total cost. The analytical step (from the preparation of libraries to the analysis of sequences) represented 88% of the total cost. Sensitivity analyses suggested that a simultaneous price decrease of 20% for the capture kit and 50% for the sequencing support kit led to an estimation of €1,769 per ES diagnostic test for ID. Conclusion This is the first estimation of ES cost to be done in the French setting of ID diagnosis. The estimation is especially influenced by the price of equipment kits, but more generally by the organization of the centers involved in the different steps of the analysis and the time period in which the study was conducted. This information can now be used to define an adequate tariff and assess the efficiency of ES. Trial registration ClinicalTrials.gov identifier NCT03287206 on September 19, 2017

The proteasome system in health and disease.

The proteasome is involved in the regulation of all cellular pathways and consequently plays a central role in the control of cellular homeostasis. Together with its regulators, it is at the frontline, both as an actor and as a target, in human health and when homeostasis is disturbed in disease. In this review, we aim to provide an overview of the many levels at which the functions of the proteasome and its regulators can be regulated to cope with cellular needs or are altered in pathological conditions