Molecular epidemiology of DFNB1 deafness in France

BACKGROUND: Mutations in the GJB2 gene have been established as a major cause of inherited non syndromic deafness in different populations. A high number of sequence variations have been described in the GJB2 gene and the associated pathogenic effects are not always clearly established. The prevalence of a number of mutations is known to be population specific, and therefore population specific testing should be a prerequisite step when molecular diagnosis is offered. Moreover, population studies are needed to determine the contribution of GJB2 variants to deafness. We present our findings from the molecular diagnostic screening of the GJB2 and GJB6 genes over a three year period, together with a population-based study of GJB2 variants. METHODS AND RESULTS: Molecular studies were performed using denaturing High Performance Liquid Chromatograghy (DHPLC) and sequencing of the GJB2 gene. Over the last 3 years we have studied 159 families presenting sensorineural hearing loss, including 84 with non syndromic, stable, bilateral deafness. Thirty families were genotyped with causative mutations. In parallel, we have performed a molecular epidemiology study on more than 3000 dried blood spots and established the frequency of the GJB2 variants in our population. Finally, we have compared the prevalence of the variants in the hearing impaired population with the general population. CONCLUSION: Although a high heterogeneity of sequence variation was observed in patients and controls, the 35delG mutation remains the most common pathogenic mutation in our population. Genetic counseling is dependent on the knowledge of the pathogenicity of the mutations and remains difficult in a number of cases. By comparing the sequence variations observed in hearing impaired patients with those sequence variants observed in general population, from the same ethnic background, we show that the M34T, V37I and R127H variants can not be responsible for profound or severe deafness

Analytical Performances of the Panther Fusion System for the Detection of Respiratory Viruses in the French National Reference Centre of Lyon, France

International audienceRespiratory infection are mainly caused by viral pathogens. During the 2017–2018 epidemic season, Panther Fusion® Respiratory kits (Influenza virus A&B (FluA&B), respiratory syncytial virus (RSV), adenovirus (ADV), metapneumovirus (MPV), rhinovirus (RV), parainfluenzae virus (PIV), were compared to the Respiratory MultiWells System r-gene. Respiratory clinical specimens were tested retrospectively (n = 268) and prospectively (n = 463). Analytical performances were determined (sensitivity –Sep-, specificity –Spe- and κ) considering concordances of ≥2 molecular testing specific to each viral target (discrepant results were verified at the National Reference Centres for Enteroviruses or Respiratory viruses, Lyon, France). After retrospective (and prospective) testing, Sep, Spe, and κ were 100% (97.7%), 100% (99%) and 100% (94%) for FluA: 100% (95.5%), 100% (99.3%) and 100% (94%) for FluB, and 100% (88.5%), 100% (98.7%) and 100% (89%) for RSV; 82.1% (41.7%), 100% (99.5%) and 86% (54%) for ADV; 94.7% (73.7%), 96.1% (98.0%) and 91% (65%) for MPV; 96.1% (94.6%), 90.2% (98.5%) and 86% (91%) for HRV; and 90% (72.7%), 100% (99.3%) and 91% (72%), respectively, for PIV. Analytical performances were above 85% for all viruses except for ADV, MPV and PIV, confirming the analytical performance of the Panther Fusion system, a high throughput system with reduced turn-around-time, when compared to non-automated systems

Effect of age at cochlear implantation and at exposure to Cued Speech on literacy skills in deaf children

International audienc

Pluralité des enseignements en sciences humaines à l'université : colloque du Groupe de recherche franco-québécois sur la didactique des sciences sociales et humaines /

Bibliogr. à la fin des chap

LE FONCTIONNEMENT RÉFLEXIF MATERNEL ET LES SYMPTÔMES INTÉRIORISÉS ET EXTÉRIORISÉS D’ENFANTS VICTIMES D’UNE AGRESSION SEXUELLE

Cette étude avait pour objectifs d’évaluer les liens entre les agressions sexuelles en enfance (ASE), le fonctionnement réflexif maternel (FRM) et les difficultés psychosociales chez les enfants ainsi que le rôle modérateur du FRM dans la relation entre l’ASE et les difficultés chez les enfants. L’échantillon incluait 154 mères, dont 64 mères d’un enfant ayant vécu une ASE. Le Parent Development Interview-Revised et le Child Behavior Checklist ont permis de mesurer le FRM et les difficultés psychosociales respectivement. Une analyse acheminatoire montre que seul le FRM était significativement associé aux comportements intériorisés et extériorisés, et qu’il jouait un rôle modérateur dans la relation entre l’ASE et les difficultés intériorisées, suggérant un effet protecteur du FRM suite à une ASE.Objectives were to examine 1) the relative contributions of childhood sexual abuse (CSA) and maternal reflective functioning (MRF) in explaining child internalising and externalising, and 2) whether MRF moderated the relationship between CSA and child difficulties. Participants were 154 mothers, including 64 mothers of children with histories of CSA. MRF was assessed with the Parent Development Interview-Revised and children’s psychosocial difficulties with the Child Behavior Checklist. MRF was the only significant predictor of child internalising and externalising difficulties in a model where CSA and MRF were considered simultaneously. MRF moderated the relationship between CSA and child internalising, suggesting that the parent’s capacity to mentalize and imagine the child’s psychological experience has a protective function in the context of CSA

Decontamination of Intravaginal Probes Infected by Human Papillomavirus (HPV) Using UV-C Decontamination System

International audienceBackground: This three-step study evaluated ultraviolet-C (UV-C) efficacy against human papillomavirus (HPV) found on vaginal ultrasound probes. Methods: The first two steps evaluated UV-C disinfection of vaginal ultrasound probes in routine condition. During the first phase, the probe (n = 100) was sampled after a complete cleaning and disinfection protocol, i.e., cleaning with chemically impregnated wipes, followed by UV-C. During the second phase, the probe (n = 47) was sampled after cleaning and UV-C. The final step consisted of applying mixes of HPV on a dedicated, covered probe (n = 15) then sampling the cover, the probe after removal of the cover, after cleaning, and after UV-C. HPV detection was performed using CLART ® HPV2 PCR (Genomica, Madrid, Spain). Results: In the first phase, no probes were found to be positive for both DNA after UV-C. In the second phase, eight probes were found to be positive after cleaning (seven with human DNA and one with HPV) and negative after UV-C. In the final phase, one probe was found to be positive for HPV for each sample except after UV-C. Conclusions: Covers followed by a chemically impregnated wipe are not sufficient to ensure patient safety during vaginal ultrasound examinations. UV-C is effective in routine conditions against contaminations found on vaginal ultrasound probes, especially HPV

One-year follow up of auditory performance in post-lingually deafened adults implanted with the Neurelec Digisonic® SP/Saphyr® Neo cochlear implant system

This study aimed to quantify outcomes in a group of patients who were implanted with an Oticon Medical Neurelec (Vallauris, France) cochlear implant system, the Digisonic® SP/Saphyr® Neo. Ten participants took part in this preliminary study. Their speech perception capacities were evaluated at 3, 6, and 12-months after cochlear implant activation and compared to pre-implantation scores and to scores observed with former versions of the sound processor. Compared to former versions of the sound processor, patients using the Saphyr® Neo processor obtained better speech perception scores for sentences in silence at each tests session (3 months: 79%, 6 months: 82% and 12 months: 94%) compared to Digisonic® users (respectively: 58%, 69% and 75%) and Convex sound processor users (resp. 39%, 59% and 51%). These observations confirm that the technological improvements made in the Saphyr® Neo sound processor coupled with the Digisonic® implant, provided quantifiable benefits in speech perception in Quiet compared to former versions of the processor Convex and Digisonic® SP

Optimized nested PCR enhances biological diagnosis and phylogenetic analysis of human parvovirus B19 infections

International audienceDiagnosis and epidemiological analysis of human parvovirus B19 (hB19V) infections are essential for disease management in severely ill patients. This study aimed to evaluate the performance of an optimized NS1-VP1u nested PCR for detection and sequencing of viruses in clinical samples using 224 clinical and five reference samples. PCR sensitivity, specificity, and positive and negative predictive values were perfect (100%). While phylogenetic analysis of a 615 bp-long fragment demonstrated that the viruses in all of the samples belonged to genotype 1, this study confirmed that this optimized PCR could detect all known hB19V with high performance

Molecular epidemiology of DFNB1 deafness in France

Abstract Background Mutations in the GJB2 gene have been established as a major cause of inherited non syndromic deafness in different populations. A high number of sequence variations have been described in the GJB2 gene and the associated pathogenic effects are not always clearly established. The prevalence of a number of mutations is known to be population specific, and therefore population specific testing should be a prerequisite step when molecular diagnosis is offered. Moreover, population studies are needed to determine the contribution of GJB2 variants to deafness. We present our findings from the molecular diagnostic screening of the GJB2 and GJB6 genes over a three year period, together with a population-based study of GJB2 variants. Methods and results Molecular studies were performed using denaturing High Performance Liquid Chromatograghy (DHPLC) and sequencing of the GJB2 gene. Over the last 3 years we have studied 159 families presenting sensorineural hearing loss, including 84 with non syndromic, stable, bilateral deafness. Thirty families were genotyped with causative mutations. In parallel, we have performed a molecular epidemiology study on more than 3000 dried blood spots and established the frequency of the GJB2 variants in our population. Finally, we have compared the prevalence of the variants in the hearing impaired population with the general population. Conclusion Although a high heterogeneity of sequence variation was observed in patients and controls, the 35delG mutation remains the most common pathogenic mutation in our population. Genetic counseling is dependent on the knowledge of the pathogenicity of the mutations and remains difficult in a number of cases. By comparing the sequence variations observed in hearing impaired patients with those sequence variants observed in general population, from the same ethnic background, we show that the M34T, V37I and R127H variants can not be responsible for profound or severe deafness.</p