Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma

[Excerpt] Multiple myeloma (MM) is the third most common hematological malignancy, after Non-Hodgkin Lymphoma and Leukemia. MM is generally preceded by Monoclonal Gammopathy of Undetermined Significance (MGUS) [1], and epidemiological studies have identified older age, male gender, family history, and MGUS as risk factors for developing MM [2]. The somatic mutational landscape of sporadic MM has been increasingly investigated, aiming to identify recurrent genetic events involved in myelomagenesis. Whole exome and whole genome sequencing studies have shown that MM is a genetically heterogeneous disease that evolves through accumulation of both clonal and subclonal driver mutations [3] and identified recurrently somatically mutated genes, including KRAS, NRAS, FAM46C, TP53, DIS3, BRAF, TRAF3, CYLD, RB1 and PRDM1 [3,4,5]. Despite the fact that family-based studies have provided data consistent with an inherited genetic susceptibility to MM compatible with Mendelian transmission [6], the molecular basis of inherited MM predisposition is only partly understood. Genome-Wide Association (GWAS) studies have identified and validated 23 loci significantly associated with an increased risk of developing MM that explain ~16% of heritability [7] and only a subset of familial cases are thought to have a polygenic background [8]. Recent studies have identified rare germline variants predisposing to MM in KDM1A [9], ARID1A and USP45 [10], and the implementation of next-generation sequencing technology will allow the characterization of more such rare variants. [...]French National Cancer Institute (INCA) and the Fondation Française pour la Recherche contre le Myélome et les Gammapathies (FFMRG), the Intergroupe Francophone du Myélome (IFM), NCI R01 NCI CA167824 and a generous donation from Matthew Bell. This work was supported in part through the computational resources and staff expertise provided by Scientific Computing at the Icahn School of Medicine at Mount Sinai. Research reported in this paper was supported by the Office of Research Infrastructure of the National Institutes of Health under award number S10OD018522. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The authors thank the Association des Malades du Myélome Multiple (AF3M) for their continued support and participation. Where authors are identified as personnel of the International Agency for Research on Cancer / World Health Organization, the authors alone are responsible for the views expressed in this article and they do not necessarily represent the decisions, policy or views of the International Agency for Research on Cancer / World Health Organizatio

Recherche des causes du vieillissement de supercondensateurs à électrolyte organique à base de carbones activés

F. BÉGUIN, Professeur, Université d'Orléans, Directeur de Thèse. L. DUCLAUX, Maître de Conférence, Université d'Orléans, Codirecteur de Thèse D. MASSIOT, Directeur de Recherche, CNRS, Orléans, Président du Jury J.-P. PÉRÈS, Ingénieur de Recherche, SAFT, Bordeaux, examinateur L.R. RADOVIC, Professeur, Pennstate University, USA, Rapporteur P. SIMON, Maître de Conférence, CIRIMAT, Toulouse, RapporteurThe energy which is stored in electrochemical capacitors is proportional to the square of voltage. Consequently, the most attractive supercapacitors are those which operate in organic electrolyte medium, with an electrolyte potential window which theoretically can easily reach more than 3 V. However, even using lower values of voltage, there is a remarkable fading of the electrochemical characteristics with operating time, that is mainly characterized by capacitance loss and resistance increase. On a commercial point of view, these capacitors must be improved in order to reach the expected criterion of long operating life. In the presented work, we will determine some reasons of supercapacitors ageing in organic electrolyte (1M solution of Et4NBF4 in acetonitrile) and we will propose a treatment of activated carbon which noticeably improves the performance. A prolonged charging of electrochemical capacitors at 2.5 V, so called floating, results in gases formation and to a noticeable mass uptake of the electrodes. XPS and NMR analysis performed on carefully washed electrodes demonstrated the existence of decomposition products from the electrolyte, which are trapped in the pores of the activated carbon. These products block the pores, limiting the ions access to the active surface that causes the decay of electrochemical performances. Electrolyte decomposition is especially very high when the electrodes are constituted of carbons with a rich surface functionality, i.e. surface oxygenated groups and free radicals. Therefore, activated carbons have been submitted to thermal treatment, both in nitrogen and hydrogen atmosphere, allowing the oxygenated surface functionality to be noticeably depressed. Supercapacitors built with the treated materials have been submitted to floating during more than 2000 hours. Extremely good electrochemical performance are preserved with the electrodes obtained from activated carbons treated under hydrogen. It confirms that the surface functionality is the main origin of capacitance fading with time of operation, and that carbon materials containing essentially C-H surface groups are suitable for a durable utilisation of electrochemical capacitors.Les supercondensateurs à base de carbones activés présentent une cyclabilité et une puissance très supérieures aux batteries. Ils pourraient être incorporés, à terme, dans des sources de puissance pulsée pour les véhicules automobiles, les transports publics et utilisés pour la qualité du courant délivré. Cependant, pour les supercondensateurs à électrolyte organique, le vieillissement limite très fortement les possibilités d'utilisation. L'objectif de cette thèse est de déterminer les causes du vieillissement et de trouver des moyens d'y remédier. Pour cela, nous avons sélectionné trois types de carbones activés conduisant à une évolution différente des performances électrochimiques au cours du temps. Les matériaux d'électrodes ont été caractérisés après une certaine durée de fonctionnement en milieu électrolyte Et4N+, BF4- 1M dans l'acétonitrile et comparés à leur état initial. Les analyses XPS et RMN ont montré que la fonctionnalité de surface du carbone activé conduit à une dégradation de l'électrolyte et constitue la cause majeure du vieillissement. Nous avons alors proposé un traitement spécifique du carbone permettant d'éliminer une part importante des groupes de surface et d'améliorer considérablement les performances des supercondensateurs au cours du fonctionnement. Cependant, ces traitements ne permettent pas d'éliminer totalement le vieillissement des supercondensateurs. Une revue exhaustive des brevets parus dans le domaine nous a permis de suggérer d'autres facteurs secondaires qui devraient être pris en considération lors de la fabrication des supercondensateurs

Présentation ZOOM publique du PEPR TASE du 22/11/2022: Technologies avancées pour les systèmes énergétiques (TASE)

Présentation publique d'un programme scientifique National CEA et CNR

Présentation réunion de lancement du PEPR «Technologies Avancées des Systèmes Energétiques » (TASE) - 22 mai 2023 - Grenoble

Présentation générale de la réunion de lancement du PEPR TASE - 22 mai 2023 à Grenobl

Présentation ZOOM publique du PEPR TASE du 22/11/2022: Technologies avancées pour les systèmes énergétiques (TASE)

Présentation publique d'un programme scientifique National CEA et CNR

Présentation réunion de lancement du PEPR «Technologies Avancées des Systèmes Energétiques » (TASE) - 22 mai 2023 - Grenoble

Présentation générale de la réunion de lancement du PEPR TASE - 22 mai 2023 à Grenobl

Results and Analysis of a BEV Driving Campaign Comprising Three Types of Daily Uses Categorized by Home-to-Work Distance

International audienceIn this poster, the results, analyses and observations obtained from a driving campaign are going to be exposed. 24 drivers volunteered to use a monitored commercial BEV for home-to-work trips during two weeks each. They were divided into three kinds of profiles depending on the distance from their homes: short (<10km), medium (10 to 20km) and long (20 to 40km). Along with the electrical and GPS measurements, the BEV was implemented with thermocouples over the entire architecture of the battery pack and temperature measurements were taken during driving, charging and parking

Présentation ZOOM publique du PEPR TASE du 22/11/2022: Technologies avancées pour les systèmes énergétiques (TASE)

Présentation publique d'un programme scientifique National CEA et CNR

Stress factors identification and Risk Probabilistic Number (RPN) analysis of Li-ionbatteries based on worldwide electric vehicles usage

International audienceHaving clear insights of the stress factors that the electric vehicle (EV) batteriesencounter during their service lifetime is crucial for more reliable ageing testing andmodelling. Since the first deployment of Li-ion battery based EV, numerous drivingcampaigns with field data were published. The goal of this article is to gather, assessand analyse them in order to quantify the stress factors depending on the EV type. Thetargeted stress factors are the temperature of the cells, the discharging and chargingrates, as well as the SOC ranges. 228 million km of driving and 7.8 million trips worthof data for over 37,000 EV were investigated. Along with this literature enquiry, datafrom an EV in which cells' temperature was monitored for driving, charging andparking conditions, complemented the analysis. For each stress factor, results werecollected, homogenised and compared with each other in order to draw conclusions.Finally, a Risk Probabilistic Number (RPN) was used to evaluate the stress factors withrespect to their impact on the ageing of Li-ion batteries, considering a central Europeanweather. The most critical stress factors for BEV cells are cycling at high mid-SOCregions and high SOC idle times. Concerning HEV cells, high power cycling at mid-SOC regions is the most critical stress, and no stresses were identified during idletimes. PHEV cells' most critical stress factors are large DOD cycling and highcharge/discharge power. Mild and low temperatures are found to be the most commonin such weathers. The RPN analysis serves as a guide for parametrizing and designingreliable accelerated ageing testing on Li-ion batteries depending on their application