Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. Despite its important developmental roles, SOX5 disruption has yet to be associated with human disease. We report one individual with a reciprocal translocation breakpoint within SOX5, eight individuals with intragenic SOX5 deletions (four are apparently de novo and one inherited from an affected parent), and seven individuals with larger 12p12 deletions encompassing SOX5. Common features in these subjects include prominent speech delay, intellectual disability, behavior abnormalities, and dysmorphic features. The phenotypic impact of the deletions may depend on the location of the deletion and consequently which of the three major SOX5 protein isoforms are affected. One intragenic deletion involving only untranslated exons was present in a more mildly affected subject, was inherited from a healthy parent and grandparent, and is similar to a deletion found in a control cohort. Therefore, some intragenic SOX5 deletions may have minimal phenotypic effect. Based on the location of the deletions in the subjects compared to the controls, the de novo nature of most of these deletions, and the phenotypic similarities among cases, SOX5 appears to be a dosage-sensitive, developmentally important gene

Synthèse et caractérisation d'un hydrogel d'alginamide pour la régénération de voies nerveuses lésées au sein du Système Nerveux Central chez le rat

Ce travail avait pour objectif la synthèse d hydrogels d alginates stables dans le temps et leur évaluation comme support de régénération des voies nerveuses lésées du Système Nerveux Central. Différents dérivés amphiphiles de l alginate de sodium ont été préparés en fixant chimiquement des chaînes alkyles en C12 à différents taux sur le squelette polymère par l intermédiaire, soit de liaisons ester (alginates esters), soit de liaisons amide (alginamides) moins sensibles à l hydrolyse. Le comportement en solution des alginamides a été étudié en termes de stabilité dans le temps, de solubilité, de comportement rhéologique, et de taux de gonflement, puis comparé à celui des alginates esters. Les alginamides ont montré des propriétés en solution différentes de celles des alginates esters, en particulier des contraintes critiques faibles, qui sont les conséquences de la formation d agrégats liée à l existence d une réaction secondaire de réticulation chimique lors de la synthèse. Néanmoins, à des concentrations et taux de greffage appropriés, il est possible d obtenir un réseau polymère tridimensionnel stabilisé par des associations hydrophobes et pouvant servir de pont de régénération pour l application visée. L étude in vivo conclut à l absence de signe de régénération des voies nerveuses chez les animaux lésées sur une durée d un an. Toutefois, cette étude a permis de valider la stratégie d implantation d un gel physique rhéofluidifiant et thixotrope, de définir des méthodes d analyse des tissus post mortem en présence d hydrogel, d examiner la possibilité d encapsuler un traitement pharmacologique et de définir un cahier des charges élargi de ce biomatériau (pH, stabilité, gonflement )The aim of this work was to synthesise alginate hydrogels, stable in time, and to evaluate their potential use as scaffolds for the damaged nerve regeneration in central nervous system. Various amphiphilic derivatives of sodium alginate were prepared by covalent attachment of alkyl chains (12 carbons) onto the polysaccharide at different substitution ratio, either via ester (alginate ester) or amide (alginamide) linkages, these last ones being more stable toward hydrolysis. The properties in solution of the alginamide derivatives were studied in terms of solubility, stability as function of time, rheological behaviour and swelling ratio. Results were compared to those obtained with the alginate ester family and highlighted a different behaviour for the alginamide series in semi-dilute regime. In particular, alginamide hydrogels exhibited a low critical strain which has been attributed to the presence of aggregates in the solution. The formation of these aggregates was due to the occurrence of a secondary cross-linking reaction during the synthesis of polymers. Nevertheless, it was possible, by appropriate tuning of the substitution yield and of the solution concentration, to obtain a three-dimensional network stabilized by intermolecular hydrophobic interactions, which has been evaluated as regenerative support for the considered application. In vivo studies demonstrated the absence of nerve regeneration for the tested injured animals after one year. However, these studies allowed us to evaluate both the strategy for the implantation of a physical gel exhibiting a shear-thinning and thixotrope behavior and the possibility to encapsulate a pharmacological treatment. An enlarged project specification has also been defined for this biomaterial (pH, stability, swelling ratio )NANCY-INPL-Bib. électronique (545479901) / SudocSudocFranceF

ACTIVATION DES CASCADES TYROSINE KINASES PAR LES RECEPTEURS HYPOPHYSAIRES A SEPT PASSAGES TRANSMEMBRANAIRES

ORSAY-PARIS 11-BU Sciences (914712101) / SudocSudocFranceF

PETS 2016: dataset and challenge

This paper describes the datasets and computer vision challenges that form part of the PETS 2016 workshop. PETS 2016 addresses the application of on-board multi sensor surveillance for protection of mobile critical assets. The sensors (visible and thermal cameras) are mounted on the asset itself and surveillance is performed around the asset. Two datasets are provided: (1) a multi sensor dataset as used for the PETS2014 challenge which addresses protection of trucks (the ARENA Dataset); and (2) a new dataset - the IPATCH Dataset - addressing the application of multisensor surveillance to protect a vessel at sea from piracy. The dataset specifically addresses several vision challenges set in the PETS 2016 workshop, and corresponding to different steps in a video understanding system: Low-Level Video Analysis (object detection and tracking), Mid-Level Video Analysis (‘simple’ event detection: the behaviour recognition of a single actor) and High-Level Video Analysis (‘complex’ event detection: the behaviour and interaction recognition of several actors)

Assessment of varying coupling levels between electric and thermal networks at district level using Co-simulation and model-predictive Control

International audienceThis study focuses on the co-simulation of the heating and electrical systems of a district. A heat pump, a gas boiler, a biomass cogeneration, a photovoltaic plant and the national electric grid provide electricity and heat consumed by thirteen residential buildings. Two storage units are present: a heat storage (hot water tank) and an electric storage (chemical battery). Architecture design and pre-sizing of components have previously been computed by MILP optimizations. As part of the Trilogy platform, a co-simulation platform Pegase runs the grid control and the detailed physical models developed using Modelica (heat system) and Simulink (electric system). A model predictive control (MPC) based on sliding time window MILP optimisations manages the flexibility of the multi energy system and insures the balance between production and consumption. The objective of the optimizations is to minimise CO2 equivalent emission costs and operational costs of each component, including the purchase of gas, biomass and electricity. A parametric study on the coupling strength between the electric and the heat system is performed by modifying the price of the electricity purchased from the national grid. Multiple scenarios with different thermoelectric coupling strength are analysed to show the dependency of the energy mix on the coupling strength. With increasing coupling, photovoltaic self-consumption increases and heat generation gradually shifts from the heat pump to the biomass cogeneration and to the gas boiler. This study also demonstrates how the Trilogy platform tools enable easy implementation of optimal control on cosimulations of multi energy detailed physical models

Assessment of varying coupling levels between electric and thermal networks at district level using Co-simulation and model-predictive Control

International audienceThis study focuses on the co-simulation of the heating and electrical systems of a district. A heat pump, a gas boiler, a biomass cogeneration, a photovoltaic plant and the national electric grid provide electricity and heat consumed by thirteen residential buildings. Two storage units are present: a heat storage (hot water tank) and an electric storage (chemical battery). Architecture design and pre-sizing of components have previously been computed by MILP optimizations. As part of the Trilogy platform, a co-simulation platform Pegase runs the grid control and the detailed physical models developed using Modelica (heat system) and Simulink (electric system). A model predictive control (MPC) based on sliding time window MILP optimisations manages the flexibility of the multi energy system and insures the balance between production and consumption. The objective of the optimizations is to minimise CO2 equivalent emission costs and operational costs of each component, including the purchase of gas, biomass and electricity. A parametric study on the coupling strength between the electric and the heat system is performed by modifying the price of the electricity purchased from the national grid. Multiple scenarios with different thermoelectric coupling strength are analysed to show the dependency of the energy mix on the coupling strength. With increasing coupling, photovoltaic self-consumption increases and heat generation gradually shifts from the heat pump to the biomass cogeneration and to the gas boiler. This study also demonstrates how the Trilogy platform tools enable easy implementation of optimal control on cosimulations of multi energy detailed physical models

High Bubble Grade After Diving: The Role of the Blood Pressure Regimen

Introduction: Previous studies have suggested that the circulatory system was involved in the production of circulatory bubbles after diving. This study was designed to research the cardio-vascular function characteristics related to the production of high bubble grades after diving. Methods: Thirty trained divers were investigated both at baseline and after a 30-msw SCUBA dive. At baseline, the investigations included blood pressure measurement, echocardiography, and assessment of aerobic fitness using VO2 peak measurement. Blood samples were taken at rest, to measure the plasma concentration of NOx and endothelin-1. After diving, circulating bubbles were detected in the pulmonary artery by pulsed Doppler at 20-min intervals during the 90 min after surfacing. The global bubble quantity production was estimated by the KISS index. Results: Divers with a high bubble grade (KISS > 7.5) had systolic blood pressure, pulse pressure, weight, and height significantly higher than divers with a low bubble grade. By contrast, total arterial compliance, plasma NOx level, and percentage of predicted value of peak oxygen uptake were significantly lower in divers with a high bubble grade. Cardiac dimensions, left ventricular function, and plasma endothelin-1 concentration were not significantly different between groups. The multivariate analysis identified blood pressure as the main contributor of the quantity of bubble production. The model including pulse pressure, plasma NOx level, and percentage of predicted value of peak oxygen uptake has an explanatory power of 49.22%. Conclusion: The viscoelastic properties of the arterial tree appeared to be an important contributor to the circulating bubble production after a dive

From HfO2 Memory Resistors (RRAM) to Memory Impedance (MEM-Z) Devices

International audienc