Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience

Objective: To describe the clinical, biochemical, and genetic features of both new and previously reported patients with congenital disorders of glycosylation (CDGs) diagnosed in Portugal over the last 20 years. Study design: The cohort includes patients with an unexplained multisystem or single organ involvement, with or without psychomotor disability. Serum sialotransferrin isoforms and, whenever necessary, apolipoprotein CIII isoforms and glycan structures were analyzed. Additional studies included measurement of phosphomannomutase (PMM) activity and analysis of lipid-linked oligosaccharides in fibroblasts. Sanger sequencing and massive parallel sequencing were used to identify causal variants or the affected gene, respectively. Results: Sixty-three individuals were diagnosed covering 14 distinct CDGs; 43 patients diagnosed postnatally revealed a type 1, 14 a type 2, and 2 a normal pattern on serum transferrin isoelectrofocusing. The latter patients were identified by whole exome sequencing. Nine of them presented also a hypoglycosylation pattern on apolipoprotein CIII isoelectrofocusing, pointing to an associated O-glycosylation defect. Most of the patients (62%) are PMM2-CDG and the remaining carry pathogenic variants in ALG1, ATP6AP1, ATP6AP2, ATP6V0A2, CCDC115, COG1, COG4, DPAGT1, MAN1B1, SLC35A2, SRD5A3, RFT1, or PGM1. Conclusions: Portuguese patients with CDGs are presented in this report, some of them showing unique clinical phenotypes. Among the 14 genes mutated in Portuguese individuals, 8 are shared with a previously reported Spanish cohort. However, regarding the mutational spectrum of PMM2-CDG, the most frequent CDG, a striking similarity between the 2 populations was found, as only 1 mutated allele found in the Portuguese group has not been reported in Spain.info:eu-repo/semantics/publishedVersio

Recommendations for whole genome sequencing in diagnostics for rare diseases

In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published by EuroGentest in order to assist laboratories in the implementation and accreditation of NGS in a diagnostic setting. These guidelines mainly focused on Whole Exome Sequencing (WES) and targeted (gene panels) sequencing detecting small germline variants (Single Nucleotide Variants (SNVs) and insertions/deletions (indels)). Since then, Whole Genome Sequencing (WGS) has been increasingly introduced in the diagnosis of rare diseases as WGS allows the simultaneous detection of SNVs, Structural Variants (SVs) and other types of variants such as repeat expansions. The use of WGS in diagnostics warrants the re-evaluation and update of previously published guidelines. This work was jointly initiated by EuroGentest and the Horizon2020 project Solve-RD. Statements from the 2016 guidelines have been reviewed in the context of WGS and updated where necessary. The aim of these recommendations is primarily to list the points to consider for clinical (laboratory) geneticists, bioinformaticians, and (non-)geneticists, to provide technical advice, aid clinical decision-making and the reporting of the results

Detection of pH gradients in between acidifying and alkalizing roots with a novel camera/pH-sensor system

A novel pH camera system was used to assess the pH gradient between roots and root systems of Chickpea and Durum wheat. Alkalizing (Durum wheat) and acidifying (Chickpea) effects were monitored in high resolution

Mapping of the virulence determinants in lettuce mosaic virus spontaneous variants

International audienc

Photoacoustics and laser-ultrasonics applied to the characterization of a ZnO ceramic sample

We present results of photoacoustics and laser-ultrasonics experiments that were performed on a ZnO ceramic sample and that led to optical, thermal, thermo-mechanical and mechanical characterizations of this material

Béton recyclé au jeune âge.

International audienceCe chapitre présente la méthodologie et les résultats d’une étude expérimentale portant sur le comportement au jeune âge de bétons incorporant des granulats de béton recyclé (GBR). Il s’intéresse plus particulièrement à la mesure du coefficient et de la cinétique d’absorption d’eau des gravillons de GBR, au comportement du béton frais en condition de séchage normal et sévère, et à l’évaluation des propriétés du béton en cours de durcissement. Les gravillons de GBR utilisés dans cette étude, fournis par le Projet National RECYBETON, présentent une absorption d’eau élevée. Leur taux de saturation atteint 90 % dans les deux premières heures, et plus rapidement encore si les gravillons sont immergés dans la pâte de ciment fraîche. Le suivi de leur absorption d’eau au sein de la pâte fraîche a également montré qu’une partie de l’eau absorbée pouvait se libérer en cas d’exposition à un séchage sévère. Le passage d’un régime de séchage normal à un régime de séchage sévère accroît le taux d’évaporation, mais n’augmente pas le ratio « retrait/perte de masse ». Toutefois, de plus grandes amplitudes de retrait sont observées en raison d’un retrait plastique accéléré qui, dans ce cas, se développe avant la prise.Le concept de pression d’entrée air a été utilisé pour analyser la sensibilité à la fissuration du béton frais. La valeur de cette pression a été estimée pour divers bétons, avec ou sans gravillons de GBR. Une bonne corrélation entre la pression d’entrée d’air et la dépression capillaire au moment de la fissuration a été trouvée. Le rapport eau efficace sur liant (Eeff/L) influence directement la pression d’entrée d’air. Ce rapport (Eeff/L) prend en compte l’état initial de saturation des gravillons de GBR.Entre la prise et 24 heures, l’évolution du retrait plastique, du module d’élasticité et de la résistance à la traction a été suivie en continu. La saturation initiale en eau des gravillons de GBR a une influence limitée sur ces propriétés. Des essais de retrait empêché seraient nécessaires pour analyser l’influence du taux de GBR sur la sensibilité à la fissuration, et pour estimer la relaxation