Exhaustive Screening of the Acid β-Glucosidase Gene, by Fluorescence-Assisted Mismatch Analysis Using Universal Primers: Mutation Profile and Genotype/Phenotype Correlations in Gaucher Disease

SummaryGaucher disease (GD) is one of the most prevalent lysosomal storage disorders and one of the rare genetic diseases now accessible to therapy. Outside the Ashkenazi Jewish community, a high molecular diversity is observed, leaving ∼30% of alleles undetected. Nevertheless, very few exhaustive methods have been developed for extensive gene screening of a large series of patients. Our approach for a complete search of mutations was the association of fluorescent chemical cleavage of mismatches with a universal strand-specific labeling system. The glucocerebrosidase (GBA) gene was scanned by use of a set of six amplicons, comprising 11 exons, all exon/intron boundaries, and the promoter region. By use of this screening strategy, the difficulties due to the existence of a highly homologous pseudogene were easily overcome, and both GD mutant alleles were identified in all 25 patients studied, thus attesting to a sensitivity that approaches 100%. A total of 18 different mutations and a new glucocerebrosidase haplotype were detected. The mutational spectrum included eight novel acid β-glucosidase mutations: IVS2 G(+1)→T, I119T, R170P, N188K, S237P, K303I, L324P, and A446P. These data further indicate the genetic heterogeneity of the lesions causing GD. Established genotype/phenotype correlations generally were confirmed, but notable disparities were disclosed in several cases, thus underlining the limitation in the prognostic value of genotyping. The observed influence of multifactorial control on this monogenic disease is discussed

Data Hiding Based on Connectivity Modification of 3D Mesh

Day by day, the amount of digital data has been rapidly increasing on the Internet. The size of 3D objects is very large and these objects need fast transmissions. Moreover, 3D data security becomes increasingly important for many applications, e.g., confidential transmission, video surveillance, military and medical applications. In this paper we present two new approaches of 3D object data hiding without changing the position of vertices in the 3D space. The main idea of the two proposed methods is to find and to synchronize particular areas of the 3D objects used to embed the message. The embedding is done by changing the connectivity of edges in the selected areas composed of quadrangles. The first proposed approach of data hiding in 3D objects is based on minimum spanning tree (MST) while the second approach is based on the projection on a secret axis of the quadrangle centers. These methods are lossless in the sense that the positions of the vertices are unchanged. Moreover they are blind and do not depend of the order of the data in the files. These two approaches are very interesting when the 3D objects have been digitalized with high precision.De nos jours, des visualisations ainsi que des transferts d’objets 3D sont couramment effectués pour de nombreuses applications allant du jeu vidéo à l’imagerie médicale en passant par l’industrie manufacturière. Dans cet article nous proposons deux nouvelles méthodes permettant de dissimuler des données dans des objets 3D sans modifier la position des sommets. L’idée principale des deux méthodes présentées est de trouver et de synchroniser des zones particulières dans l’objet 3D pouvant être utilisées pour insérer le message. L’insertion de données s’appuie sur la modification de la connexité des arêtes dans les zones sélectionnées composées de quadrangles. La différence entre les deux méthodes présentées est la manière de sélectionner et de synchroniser ces zones d’insertion. Alors que la première méthode s’appuie sur un arbre couvrant minimum (ACM), la seconde méthode utilise un axe sur lequel sont projetés les centres des zones d’insertion. Ces deux méthodes aveugles, protégées par utilisation de clefs secrètes, résistent à des transformations géométriques tels que les rotations, translations ou changement d’échelle et ne sont pas perturbées par des modifications directes de l’ordre des données dans les fichiers originaux. Ces approches trouvent un intérêt certain pour des objets 3D dont les sommets ont été acquis avec une grande précision et dont la modification n’est pas acceptable

Novel Prediction Methods of Multicarrier Multipactor for Space Industry Standards

[EN] Multipactor prediction methods are of high relevance for the space industry in order to prevent its appearance during the design phase of RF high-power components. Up to the present time, prediction for multicarrier signals has been covered by an empirical rule, the 20-gap-crossing rule (20GCR), proposed in the 2003 version of the multipactor standard published by the European Cooperation for Space Standardization (ECSS). The 20GCR has been widely used by the space industry, although some studies have demonstrated that it might be inaccurate in some situations. The latest version of the ECSS multipactor standard, published in 2020, presents two novel methods for multipactor prediction with multicarrier signals: the pulsed method and the envelope sweep (ES) method, both simple, accurate enough, and suitable for industry standards. While the pulsed model is a simple and fast method based on a 1-D analytical theory, the ES method is more accurate and able to deal with real 3-D microwave structures. This article details both multipactor prediction methods, as well as their practical validation with a large dataset from previous analytical studies and experimental activities.The authors would like to thank the ESA-ESTEC and ASD-Eurospace for the creation and support of the ECSSE-ST-20-01 working group for the update of the ECSS multipactor standard, which has been the motivation of this work.Anza, S.; Puech, J.; Raboso, D.; Wochner, U.; Mader, P.; Koch, O.; Angevain, J.... (2022). Novel Prediction Methods of Multicarrier Multipactor for Space Industry Standards. IEEE Transactions on Microwave Theory and Techniques. 70(1):670-684. https://doi.org/10.1109/TMTT.2021.312009567068470

The Science Case for Multi-Object Spectroscopy on the European ELT

This White Paper presents the scientific motivations for a multi-object spectrograph (MOS) on the European Extremely Large Telescope (E-ELT). The MOS case draws on all fields of contemporary astronomy, from extra-solar planets, to the study of the halo of the Milky Way and its satellites, and from resolved stellar populations in nearby galaxies out to observations of the earliest 'first-light' structures in the partially-reionised Universe. The material presented here results from thorough discussions within the community over the past four years, building on the past competitive studies to agree a common strategy toward realising a MOS capability on the E-ELT. The cases have been distilled to a set of common requirements which will be used to define the MOSAIC instrument, entailing two observational modes ('high multiplex' and 'high definition'). When combined with the unprecedented sensitivity of the E-ELT, MOSAIC will be the world's leading MOS facility. In analysing the requirements we also identify a high-multiplex MOS for the longer-term plans for the E-ELT, with an even greater multiplex (>1000 targets) to enable studies of large-scale structures in the high-redshift Universe. Following the green light for the construction of the E-ELT the MOS community, structured through the MOSAIC consortium, is eager to realise a MOS on the E-ELT as soon as possible. We argue that several of the most compelling cases for ELT science, in highly competitive areas of modern astronomy, demand such a capability. For example, MOS observations in the early stages of E-ELT operations will be essential for follow-up of sources identified by the James Webb Space Telescope (JWST). In particular, multi-object adaptive optics and accurate sky subtraction with fibres have both recently been demonstrated on sky, making fast-track development of MOSAIC feasible.Comment: Significantly expanded and updated version of previous ELT-MOS White Paper, so there is some textual overlap with arXiv:1303.002

Adaptation de liaisons hertziennes au declenchement de l'irrigation

National audienc

IRM de la prostate (l'antenne pelvienne superficielle peut-elle remplacer l'antenne endorectale dans la détection du cancer ?)

LILLE2-BU Santé-Recherche (593502101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Traitement chirurgical de la sténose du tronc commun gauche (suivi à long terme de 250 patients)

Le traitement chirurgical de la sténose du TCG est assorti d'une mortalité périopératoire importante de cause cardiaque. Les situations de défaillances cardiaques préopératoires et les interventions réalisées en urgence, sont les prédicateurs de la survenue de MACE précoces. La survenue de MACE à long terme est influencée par l'âge et la défaillance cardiaque mais aussi par la technique chirurgicale. Le traitement chirurgical reste le traitement de référence de la sténose du TCG, qui apporte une solution satisfaisante même dans le cas de l'urgence et de la défaillance cardiaque. L'angioplastie du TCG est un geste délicat dans sa réalisation dont les résultats à long terme doivent être précisés. Des études complémentaires sont nécessaires concernant ce cas spécifique. Elles devront comparer pour une population uniforme les résultats de chacune des deux techniques réalisées dans les mêmes conditions pour dégager une conduite thérapeutique fermement définie.TOULOUSE3-BU Santé-Centrale (315552105) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Elaboration du rendement du blé d'hiver en conditions de déficit hydrique. I. Etude en lysimètres

National audienceNumerous papers have reported the effects of water stress on wheat grain yield and its components, but limited information is available for modelling its consequences on harvest index. This knowledge is essential for simulation models which predict crop yield as a result of biomass and harvest index (IR). The biomass and harvest index responses to water-stress treatments differing in their intensity, duration and timing were therefore studied on lysimeters over 3 years. Yield, biomass and grain number decreased with water satisfaction rate (ETR/ETM). The booting-milky grain period was the most sensitive to water stress. Moderate stress did not affect IR but the decrease was rapid below ETR/ETM values of 0.75. The minimum value of IR was 0.19. IR increased with the contribution of water consumption after anthesis by up to 30%. Water stress during tillering increased the harvest index. Using these results, a simple model is proposed to predict the phasic response of IR to water stress.Si de nombreux travaux rapportent les effets de défauts d’alimentation hydrique sur le rendement du blé d’hiver et ses composantes, on n’est cependant pas en mesure d’en modéliser les conséquences sur l’indice de récolte. Or cette connaissance est nécessaire au fonctionnement des modèles de simulation qui prédisent le rendement du blé à l’aide de la biomasse aérienne et de l’indice de récolte (IR). C’est pourquoi, à partir d’un dispositif de cases lysimétriques, nous avons cherché à établir les fonctions de réponse du rendement, de la biomasse aérienne et de l’indice de récolte du blé d’hiver à des contraintes hydriques variant par l’intensité, la durée de la période d’application. Les résultats (3 années) illustrent la chute de rendement, de biomasse aérienne et de nombre de grains par m2 avec celle du taux de satisfaction des besoins en eau (ETR/ETM), la période gonflement-stade laiteux apparaissant comme la plus sensible au stress hydrique tant pour le rendement que pour l’indice de récolte. Si IR reste stable pour des contraintes modérées, la baisse est rapide en deçà de valeurs d’ETR/ETM de 0,75 jusqu’à une valeur minimale d’IR de 0,19. L’indice de récolte augmente avec la part de l’eau consommée par le blé après l’anthèse et plafonne au-delà de 30 %. Un stress hydrique précoce (tallage-début montaison) augmente IR. À partir de ces résultats, un modèle simplifié de réponse d’IR au déficit hydrique par phase est proposé