Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy

Myotonic dystrophy type 1 (DM1) is the most frequent inherited neuromuscular disorder. The juvenile form has been associated with cognitive and psychiatric dysfunction, but the phenotype remains unclear. We reviewed the literature to examine the psychiatric phenotype of juvenile DM1 and performed an admixture analysis of the IQ distribution of our own patients, as we hypothesised a bimodal distribution. Two-thirds of the patients had at least one DSM-IV diagnosis, mainly attention deficit/ hyperactivity disorder and anxiety disorder. Two-thirds had learning disabilities comorbid with mental retardation on one hand, but also attention deficit, low cognitive speed and visual spatial impairment on the other. IQ showed a bi-modal distribution and was associated with parental transmission. The psychiatric phenotype in juvenile DM1 is complex. We distinguished two different phenotypic subtypes: one group characterised by mental retardation, severe developmental delay and maternal transmission; and another group characterised by borderline full scale IQ, subnormal development and paternal transmission

Attention conjointe chez les enfants de mère aveugle ou malvoyante‎ : étude portant sur des enfants de 12 mois, réalisée dans le cadre du projet PILE [Programme International pour le Langage de l’Enfant]

This report is a contribution to the International Program for Child Language (PILE) initiated in 2003 at the Hospital Necker-Enfants-Malades in Paris. This study focuses on the precursors of communication and language. We study the development of joint attention in blind and visually impaired mothers with their seeing baby. As joint attention is primarily based on gaze, we seek to understand how it develops when visual channel fails at one of interaction partner, ie the mother. This study focuses on babies of twelve months, when joint attention is beginning to be set. Micro-analysis of films where babies interacted freely with their mother have been made, using the ELAN software and an observation grid of joint attention. To put in evidence of possible mother compensation means, occurrences of initiation of conversation, speaking time and touch occurrences have been recorded. Statistical tests where performed which showed significant results. The children of our population are less often and less time engaged in attention than the children of our control population. In addition, it was confirmed that mothers develop strategies to communicate and interact with their baby, through initiation and touch.Ce mémoire fait partie du programme de recherche PILE (Programme International pour le Langage de l’Enfant), lancé par une équipe de chercheurs de l’hôpital Necker-Enfants Malades en 2003. Ce projet s’intéresse aux précurseurs de la communication et du langage. Notre travail a pour but d’étudier la mise en place de l’attention conjointe chez des dyades mère aveugle ou malvoyante-enfant voyant. En effet, cette compétence se basant essentiellement sur le regard, il est intéressant de chercher à comprendre comment elle se développe lorsque le canal visuel est défaillant. Cette étude s’est concentrée sur des enfants de douze mois, âge auquel l'attention conjointe se met en place. Des vidéos d’interaction libre entre une mère et son enfant ont été visionnées puis analysées avec le logiciel ELAN et selon une grille d’observation de l'attention conjointe. Afin de mettre en valeur d’éventuels moyens de compensation que la mère pourrait mettre en place pour pallier son handicap visuel, nous avons regardé le nombre de fois où elle initie une interaction avec son enfant, mesuré son temps de parole, et observé l’utilisation du toucher. Après que les données aient été extraites, des tests statistiques ont été effectués. Ils ont montré de manière significative que les enfants de notre population sont moins souvent et moins longtemps engagés dans des épisodes d’attention que les enfants témoins. De même, il a été confirmé que la mère met en place des stratégies pour communiquer et interagir au mieux avec son enfant (initiation des échanges, utilisation du toucher)

Evaluation des rejets atmosphériques engendrés par un impact météoritique (approche thermodynamique)

PARIS7-Bibliothèque centrale (751132105) / SudocSudocFranceF

Fluorescence triggering: A general strategy for enumerating and phenotyping extracellular vesicles by flow cytometry

Plasma contains cell-derived extracellular vesicles (EVs) which participate in various physiopathological processes and have potential biomedical applications. Despite intense research activity, knowledge on EVs is limited mainly due to the difficulty of isolating and characterizing sub-micrometer particles like EVs. We have recently reported that a simple flow cytometry (FCM) approach based on triggering the detection on a fluorescence signal enabled the detection of 50* more Annexin-A5 binding EVs (Anx5+ EVs) in plasma than the conventional FCM approach based on light scattering triggering. Here, we present the application of the fluorescence triggering approach to the enumeration and phenotyping of EVs from platelet free plasma (PFP), focusing on CD41+ and CD235a+ EVs, as well as their sub-populations which bind or do not bind Anx5. Higher EV concentrations were detected by fluorescence triggering as compared to light scattering triggering, namely 40* for Anx5+ EVs, 75* for CD41+ EVs, and 15* for CD235a+ EVs. We found that about 30% of Anx5+ EVs were of platelet origin while only 3% of them were of erythrocyte origin. In addition, a majority of EVs from platelet and erythrocyte origin do not expose PS, in contrast to the classical theory of EV formation. Furthermore, the same PFP samples were analyzed fresh and after freeze-thawing, showing that freeze-thawing processes induce an increase, of about 35%, in the amount of Anx5+ EVs, while the other EV phenotypes remain unchanged. The method of EV detection and phenotyping by fluorescence triggering is simple, sensitive and reliable. We foresee that its application to EV studies will improve our understanding on the formation mechanisms and functions of EVs in health and disease and help the development of EV-based biomarkers. 2015 International Society for Advancement of Cytometry

Role of extracellular vesicles in autoimmune diseases

Extracellular vesicles (EVs) consist of exosomes released upon fusion of multivesicular bodies with the cell plasma membrane and microparticles shed directly from the cell membrane of many cell types. EVs can mediate cell-cell communication and are involved in many processes including inflammation, immune signaling, angiogenesis, stress response, senescence, proliferation, and cell differentiation. Accumulating evidence reveals that EVs act in the establishment, maintenance and modulation of autoimmune processes among several others involved in cancer and cardiovascular complications. EVs could also present biomedical applications, as disease biomarkers and therapeutic targets or agents for drug delivery

Benralizumab: A potential tailored treatment for life-threatening DRESS in the COVID-19 era

International audienceNo abstract availabl

Place of a new radiological index in predicting pulp exposure before intervention for deep carious lesions

International audienceBackground During interventions for deep caries lesions without severe symptoms, preserving pulpal vitality is important to ensure treatment success, improve organ prognosis, and decrease cost-effectiveness. Current pre-operative radiographs allow visual estimation but not accurate measurement of lesion depth. Purpose Investigate the ability of ratio 'remaining/total dentin thickness' (RDT/TDT, as determined on pre-operative radiographs) to predict pulp exposure during excavation. Methods This retrospective study (January 2018-June 2020) analyzed data on 360 patients. Four independent raters examined standard pre-operative radiographs and their contrasted versions. Lines put at the dentino-enamel junction, the floor of the carious lesion, and the pulp chamber wall allowed deriving RDT/TDT. Inter-rater agreements and concordance were assessed. A logistic regression accounting for measurement errors provided odds ratios that estimated the ability of the RDT/TDT to predict pulp exposure. Results The median RDT/TDT ratio ranges were 16.8-26.5% on standard and 16.2-24.6% on contrasted radiographs. Inter-rater agreements on RDT/TDT were rather poor and inter-rater reliability was low and similar in standard and contrasted radiographs: the concordance correlation coefficients (95% CIs) were estimated at 0.46 (0.40; 0.51) and 0.46 (0.40; 0.52), respectively. The risk of pulp exposure increased by 2.5 times [odds ratio (95% CI) 2.57 (2.06; 3.20)] per 10-point decrease of the ratio on standard radiographs vs. 4.15 (3.15; 5.46) on contrasted radiographs. Conclusion RDT/TDT ratio is potentially helpful in predicting pulp exposure. However, the measurement errors on RDT and TDT being non-negligible and the interrater agreements poor, there is still place for advances through development of an automated process that will improve reliability and reproducibility of pulp exposure risk assessment

The persistence of smoke VOCs indoors: Partitioning, surface cleaning, and air cleaning in a smoke-contaminated house.

Wildfires are increasing in frequency, raising concerns that smoke can permeate indoor environments and expose people to chemical air contaminants. To study smoke transformations in indoor environments and evaluate mitigation strategies, we added smoke to a test house. Many volatile organic compounds (VOCs) persisted days following the smoke injection, providing a longer-term exposure pathway for humans. Two time scales control smoke VOC partitioning: a faster one (1.0 to 5.2 hours) that describes the time to reach equilibrium between adsorption and desorption processes and a slower one (4.8 to 21.2 hours) that describes the time for indoor ventilation to overtake adsorption-desorption equilibria in controlling the air concentration. These rates imply that vapor pressure controls partitioning behavior and that house ventilation plays a minor role in removing smoke VOCs. However, surface cleaning activities (vacuuming, mopping, and dusting) physically removed surface reservoirs and thus reduced indoor smoke VOC concentrations more effectively than portable air cleaners and more persistently than window opening

Knowledge and Opinions of French Dental Students in Operative Dentistry - Management of Deep Carious Lesions

International audiencePurpose: A questionnaire survey was recently undertaken among French dental students (FDSs) to investigate their practices, knowledge and opinions in various domains of minimal intervention (MI) in cariology. The present work focuses on management of deep carious lesions (DCLs). Materials and Methods: The questionnaire was administered (Spring 2018) to all the fifth-year students of the 16 French dental schools. Descriptive analyses were performed. Results: Among 1370 FDSs (response rate: 84.5%), hardness was the most commonly reported criterion for assessing the endpoint of carious tissue removal (53.9%), followed by firm dentin (40.0%). Regarding FDSs' opinion of leaving carious dentine under a restoration, 41.9% of the respondents agreed that carious tissues should always be removed completely. For an asymptomatic tooth with DCLs and exposed pulp, direct pulp capping was mainly chosen (93.9%). In a clinical case correctly diagnosed as a reversible pulpitis by 79.7% of respondents, nearly half of FDSs chose a one-step complete excavation (48.3%) followed by selective excavation (25.1%), then two-step complete excavation (20.9%) and a minority (5.7%) opted for pulpal therapy (biopulpotomy or endodontic treatment). Conclusion: The present results suggest an inadequate dissemination of MI concepts among FDSs towards DCL management. The present results show the need for a harmonisation and a reinforcement of teaching evidence-based MI according to the latest European recommendations

Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1)

International audienc