Adaptive applications to assist students with autism in succeeding in higher education

Abstract. In this demo we discuss a few possible scenarios showing adaptation of presentation and information to assist autistic students in succeeding in higher education. These students not only have specific information need, they are also more concerned about their privacy. We use WiBAF (Within Browser Adaptation Framework) for user modeling and adaptation to give users control over the sharing of their data

Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA

Large studies in von Willebrand disease patients, including Spanish and Portuguese registries, led to identification of >250 different mutations. It is a challenge to determine the pathogenic effect of potential splice site mutations on VWF mRNA. This study aimed to elucidate the true effects of 18 mutations on VWF mRNA processing, investigate the contribution of next-generation sequencing to in vivo mRNA study in von Willebrand disease, and compare the findings with in silico prediction. RNA extracted from patient platelets and leukocytes was amplified by RT-PCR and sequenced using Sanger and next generation sequencing techniques. Eight mutations affected VWF splicing: c.1533+1G>A, c.5664+2T>C and c.546G>A (p.=) prompted exon skipping; c.3223-7_3236dup and c.7082-2A>G resulted in activation of cryptic sites; c.3379+1G>A and c.7473G>A (p.=) demonstrated both molecular pathogenic mechanisms simultaneously; and the p.Cys370Tyr missense mutation generated two aberrant transcripts. Of note, the complete effect of 3 mutations was provided by next generation sequencing alone because of low expression of the aberrant transcripts. In the remaining 10 mutations, no effect was elucidated in the experiments. However, the differential findings obtained in platelets and leukocytes provided substantial evidence that 4 of these would have an effect on VWF levels. In this first report using next generation sequencing technology to unravel the effects of VWF mutations on splicing, the technique yielded valuable information. Our data bring to light the importance of studying the effect of synonymous and missense mutations on VWF splicing to improve the current knowledge of the molecular mechanisms behind von Willebrand disease.info:eu-repo/semantics/publishedVersio

Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA

Large studies in von Willebrand disease patients, including Spanish and Portuguese registries, led to the identification of >250 different mutations. It is a challenge to determine the pathogenic effect of potential splice site mutations on VWF mRNA. This study aimed to elucidate the true effects of 18 mutations on VWF mRNA processing, investigate the contribution of next-generation sequencing to in vivo mRNA study in von Willebrand disease, and compare the findings with in silico prediction. RNA extracted from patient platelets and leukocytes was amplified by RT-PCR and sequenced using Sanger and next generation sequencing techniques. Eight mutations affected VWF splicing: c.1533+1G>A, c.5664+2T>C and c.546G>A (p.=) prompted exon skipping; c.3223-7_3236dup and c.7082-2A>G resulted in activation of cryptic sites; c.3379+1G>A and c.7437G>A) demonstrated both molecular pathogenic mechanisms simultaneously; and the p.Cys370Tyr missense mutation generated two aberrant transcripts. Of note, the complete effect of three mutations was provided by next generation sequencing alone because of low expression of the aberrant transcripts. In the remaining 10 mutations, no effect was elucidated in the experiments. However, the differential findings obtained in platelets and leukocytes provided substantial evidence that four of these would have an effect on VWF levels. In this first report using next generation sequencing technology to unravel the effects of VWF mutations on splicing, the technique yielded valuable information. Our data bring to light the importance of studying the effect of synonymous and missense mutations on VWF splicing to improve the current knowledge of the molecular mechanisms behind von Willebrand disease. clinicaltrials.gov identifier:02869074

Ultracool dwarf benchmarks with \emph{Gaia} primaries

This article has been accepted for publication in Monthly Notices of the Royal Astronomical Society. © 2017 The Author(s). Published by Oxford University Press on behalf of the Royal Astronomical Society. All rights reserved.We explore the potential of \emph{Gaia} for the field of benchmark ultracool/brown dwarf companions, and present the results of an initial search for metal-rich/metal-poor systems. A simulated population of resolved ultracool dwarf companions to \emph{Gaia} primary stars is generated and assessed. Of order $\sim$24,000 companions should be identifiable outside of the Galactic plane ($|b| > 10\,$deg) with large-scale ground- and space-based surveys including late M, L, T, and Y types. Our simulated companion parameter space covers $0.02 \le M/M_{\odot} \le 0.1$, $0.1 \le {\rm age/Gyr} \le 14$, and $-2.5 \le {\rm [Fe/H]} \le 0.5$, with systems required to have a false alarm probability $$0.6\, kau}\,Peer reviewedFinal Accepted Versio

Towards a life cycle sustainability assessment method for the quantification and reduction of impacts of buildings life cycle

The construction and building sectorsare one of the highestconsumersof resourcesand energy. Literature evidences the potentialities of the design phase towardsthe improvement of environmental, economic and social performance of buildings. Thus, the Life Cycle Sustainability Assessment (LCSA) approach is recognized as suitable method. It isbased on the “triple bottom line”principle, to calculate environmental, economic, social impacts produced by buildings during itslife cycle. The present paper aims to present a methodological framework based on anLCSA, used during design stages of buildings and integrated into a building’s design technology such as Building Information Modeling (BIM). A conceptual approach to conduct the data integration and a possible workflow to integrate the LCSA into BIMis proposed. The value of the present approach is the possibility to conductquantitative environmental, economic and social assessment of buildings to guide designers to measure and predict the building’s performanc