45 research outputs found

    Suppression of the thermal hysteresis in magnetocaloric MnAs thin film by highly charged ion bombardment

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    We present the investigation on the modifications of structural and magnetic properties of MnAs thin film epitaxially grown on GaAs induced by slow highly charged ions bombardment under well-controlled conditions. The ion-induced defects facilitate the nucleation of one phase with respect to the other in the first-order magneto-structural MnAs transition with a consequent suppression of thermal hysteresis without any significant perturbation on the other structural and magnetic properties. In particular, the irradiated film keeps the giant magnetocaloric effect at room temperature opening new perspective on magnetic refrigeration technology for everyday use

    Environmental DNA Based Surveillance for the Highly Invasive Carpet Sea Squirt Didemnum vexillum : A Targeted Single-Species Approach

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    Funding Information: The authors would like to thank the site operators, owners and Solway Firth Partnership for allowing access and sample collection at studied sites visited during this study. Thanks also to Frank Armstrong, Katy Beaton, Maria Campbell, Pablo Dias, James Dooley, Judith Horrill, Nial McLeod, Warren Murray, Andrea Taylor, Joe Triscott, and Bill Turrell for contributing to field work and sample collection. The authors thank National Museums Scotland and particularly Fiona Ware for the loan of reference material (specimen register number NMS.Z.2015.82.8, 9 and 14 and NMS.Z.2018.2.2) which was used in the present study. KS thank the Japan Society for the Promotion of Science for post-doctoral fellowship funding.Peer reviewedPublisher PD

    A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

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    Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

    Le stigmate au miroir de l'estime de soi (le cas du désordre mental face à l'étiquetage psychiatrique)

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    La thèse est une contribution psychosociale à la théorisation du phénomène de l'étiquetage et de la stigmatisation. Il tire son inspiration du courant de l'interactionnisme symbolique et notamment de Ia théorie de l'étiquetage. Dans la première partie, théorique, on cherche à opérer une révision de la notion de stigmate. Dans la seconde partie de la thèse, je me propose d'étudier de façon empirique l'effet du stigmate psychiatrique sur l'estime de soi. Je postule un effet miroir entre estime de soi et stigmate. De fait, l'altération de l'estime de soi y sera conçue comme réponse à la stigmatisation à travers l'intériorisation du jugement négatif porté sur soi. L'instrument utilisé dans deux populations d'étude est l'Echelle d'Estime de Soi de Rosenberg. L'exposé des résultats de "enquête quantitative m'amène à reformuler mon hypothèse initiale et à la considérer comme valide. Je présente quatre études de cas et à la suite leurs aspects contre-transférentiels du point de vue de l'intervention clinique et de la recherche. Il s'agit de montrer l'utilité du concept de stigmate et de notions associées (comme l'abjection, la souillure, la déréliction acquise) dans l'investigation clinique.LYON2/BRON-BU (690292101) / SudocSudocFranceF
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