Water analysis with the help of tensor canonical decompositions

Coopération universitaire et scientifique Franco-VietnamienneInternational audienceRaw data are collected in five measurement locations along the Var river. It is assumed that some locations interact with each other, whereas others do not. In such a context, we are interested in determining the contribution of each location and in better understanding the water exchanges that are involved. Organic components can also be identified thanks to methods such as Canonical Polyadic decompositions (CP) (sometimes known as Parafac), applied to 3D fluorescence spectra calculated from the collected samples. The expected impact is a more efficient detection of polluting matters in water

A novel point mutation in the CYBB gene promoter leading to a rare X minus chronic granulomatous disease variant — Impact on the microbicidal activity of neutrophils

AbstractThis article reports an atypical and extremely rare case of X-linked CGD in an Italian family characterized by a low expression of gp91phox (X91− CGD). A novel point mutation in the CYBB gene's promoter (insertion of a T at position −54T to −56T) appeared to prevent the full expression of this gene in the patient's neutrophils and correlated with a residual oxidase activity in the whole cells population. The expression and functional activity of the oxidase in eosinophils appeared to be almost normal. Gel shift assays indicated that the mutation led to decreased interactions with DNA-binding proteins. The total O2− production in the patient's granulocytes (5–7% of normal) supported no microbicidal power after 45 min and 60 min of contact with S. aureus and C. albicans, respectively. Despite this residual oxidase activity, the patients suffered from severe and life-threatening infections. It was concluded that in these X91− CGD neutrophils, the O2− production per se was not sufficient to protect the patient against severe infections

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

TRY plant trait database – enhanced coverage and open access

Plant traits - the morphological, anatomical, physiological, biochemical and phenological characteristics of plants - determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait‐based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits - almost complete coverage for ‘plant growth form’. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait–environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives

Stabilité du DNA viral intégré dans des cellules de souris survivant à une infection par le virus du polyome

Deux lignées de cellules 3T6 de souris ayant survécu à une infection par le virus du polyome ont été sous-clonées et propagées pendant de nombreuses générations cellulaires. Aucune modification des séquences virales intégrées dans le génome de ces cellules n'a pu être mise en évidence entre les différents sous-clones obtenus et au cours des générations. La stabilité des génomes viraux intégrés au sein des cellules étudiées pourrait être en relation avec l'absence d'un antigène grand T viral fonctionnel et de répétitions de séquences au sein du DNA viral

Dysplasie ectodermique hypohidrotique ou syndrome de Christ-Siemens-Touraine (revue bibliographique)

TOULOUSE3-BU Santé-Centrale (315552105) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Caractérisation minéralogique et chimique de vitrifiats de REFIOM: Importance de la localisation des éléments polluants

International audienceAccording to the law of July 13, 1992, only ultimate wastes can be accepted in class 1 rubbish dumps after July 1, 2002. This has led to studies concerning the stabilization of such wastes. Two types of vitrified waste (vitrifiats de REFIOM) have been studied, each with a different chemistry and mineralogy. This work shows the importance of some crystals that allow a good stabilization of certain polluant elements whereas other phases can lead to an unstable material.La loi du 13 juillet 1992 prévoyant qu'à la date du 1er juillet 2002, seul les résidus ultimes seront autorisés en décharge de classe 1, a conduit au développement de travaux concernant leur stabilisation. Deux types de vitrifiats de Refiom ont été élaborés avec un chimisme et une minéralogie différents. L'étude a montré l'importance de certains cristaux stabilisant certains éléments polluants tandis que d'autres phases rendent le matériau peu stable