145 research outputs found

    Book of Abstracts 15th International Symposium on Computer Methods in Biomechanics and Biomedical Engineering and 3rd Conference on Imaging and Visualization

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    In this edition, the two events will run together as a single conference, highlighting the strong connection with the Taylor & Francis journals: Computer Methods in Biomechanics and Biomedical Engineering (John Middleton and Christopher Jacobs, Eds.) and Computer Methods in Biomechanics and Biomedical Engineering: Imaging and Visualization (JoãoManuel R.S. Tavares, Ed.). The conference has become a major international meeting on computational biomechanics, imaging andvisualization. In this edition, the main program includes 212 presentations. In addition, sixteen renowned researchers will give plenary keynotes, addressing current challenges in computational biomechanics and biomedical imaging. In Lisbon, for the first time, a session dedicated to award the winner of the Best Paper in CMBBE Journal will take place. We believe that CMBBE2018 will have a strong impact on the development of computational biomechanics and biomedical imaging and visualization, identifying emerging areas of research and promoting the collaboration and networking between participants. This impact is evidenced through the well-known research groups, commercial companies and scientific organizations, who continue to support and sponsor the CMBBE meeting series. In fact, the conference is enriched with five workshops on specific scientific topics and commercial software.info:eu-repo/semantics/draf

    Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient

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    Mucolipidosis type II α/β is a severe, autosomal recessive lysosomal storage disorder, caused by a defect in the GNPTAB gene that codes for the α/β subunits of the GlcNAc-phosphotransferase. To date, over 100 different mutations have been identified in MLII α/β patients, but no large deletions have been reported. Here we present the first case of a large homozygous intragenic GNPTAB gene deletion (c.3435-386_3602 + 343del897) encompassing exon 19, identified in a ML II α/β patient. Long-range PCR and sequencing methodologies were used to refine the characterization of this rearrangement, leading to the identification of a 21 bp repetitive motif in introns 18 and 19. Further analysis revealed that both the 5' and 3' breakpoints were located within highly homologous Alu elements (Alu-Sz in intron 18 and Alu-Sq2, in intron 19), suggesting that this deletion has probably resulted from Alu-Alu unequal homologous recombination. RT-PCR methods were used to further evaluate the consequences of the alteration for the processing of the mutant pre mRNA GNPTAB, revealing the production of three abnormal transcripts: one without exon 19 (p.Lys1146_Trp1201del); another with an additional loss of exon 20 (p.Arg1145Serfs*2), and a third in which exon 19 was substituted by a pseudoexon inclusion consisting of a 62 bp fragment from intron 18 (p.Arg1145Serfs*16). Interestingly, this 62 bp fragment corresponds to the Alu-Sz element integrated in intron 18.This represents the first description of a large deletion identified in the GNPTAB gene and contributes to enrich the knowledge on the molecular mechanisms underlying causative mutations in ML II.This work was supported by FCT - project PIC/IC/83252/2007 (http://alfa.fct.mctes.pt/). Coutinho MF and Quental S received grants from the FCT (SFRH/BD/48103/2008; SFRH/BPD/64025/2009)

    Multispectral and hyperspectral remote sensing as a source of knowledge in the Portuguese sector of the Iberian Pyrite Belt

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    ABSTRACT: Remote sensing is an invaluable tool to increase geological and mining knowledge, due to its screening view and variable discrimination and identification capabilities of the target materials. In this study an overview of remote sensing research developed and ongoing within the Portuguese sector of the Iberian Pyrite Belt (PSIPB) since 2000 is given. Multispectral and hyperspectral datasets were processed using hybrid methods, related both to general and detailed characterization, to: 1) support geological, mineral and hydrothermal mapping, 2) generate products derived from multivariate analysis and band ratios, 3) enhance correlation with radiometric data, 4) provide elements for environmental assessment concerning mining activity, 5) map Acid Mine Drainage (AMD) based on spectral field signatures, 6) quantify AMD based on high correlation mineralogical mapping, and 7) monitor AMD. The results highlight the importance of the quantitative digital support given by remote sensing tools within the Portuguese Sector of the Iberian Pyrite Belt (PSIPB), ruled by georesource exploitation in different stages of the Mine Lyfe Cycle.RESUMO: A deteção remota é uma ferramenta valiosa para aumentar o conhecimento geológico e mineiro, devido à visão sinótica e à capacidade variável de discriminação e identificação dos materiais-alvo. Neste trabalho dá-se uma visão geral da investigação através dos trabalhos de deteção remota desenvolvidos e em curso no Setor Português da Faixa Piritosa Ibérica (SPFPI) desde 2000. Os dados multiespectrais e hiperespectrais foram processados usando métodos híbridos quer para a sua caracterização geral quer detalhada para: 1) apoiar a cartografia geológica, de mineralizações e sistemas hidrotermais, 2) gerar produtos de análise multivariada e rácios de bandas, 3) melhorar a correlação com dados radiométricos 4) fornecer elementos para avaliação ambiental em áreas mineiras, 5) cartografar a drenagem ácida de mina (DAM) com assinaturas espectrais de campo, 6) quantificar a DAM através de cartografia mineralógica de alta correlação, e 7) monitorizar a DAM. Destaca-se a importância do suporte digital quantitativo dado por ferramentas de deteção remota no SPFPI, regido pela exploração de georrecursos em diferentes fases do Ciclo de Vida das Minas

    The Molecular Phylogenetic Signature of Clades in Decline

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    Molecular phylogenies have been used to study the diversification of many clades. However, current methods for inferring diversification dynamics from molecular phylogenies ignore the possibility that clades may be decreasing in diversity, despite the fact that the fossil record shows this to be the case for many groups. Here we investigate the molecular phylogenetic signature of decreasing diversity using the most widely used statistic for inferring diversity dynamics from molecular phylogenies, the γ statistic. We show that if a clade is in decline its molecular phylogeny may show evidence of the decrease in the diversification rate that occurred between its diversification and decline phases. The ability to detect the change in diversification rate depends largely on the ratio of the speciation rates of the diversification and decline phases, the higher the ratio the stronger the signal of the change in diversification rate. Consequently, molecular phylogenies of clades in relative rapid decline do not carry a signature of their decreasing diversification. Further, the signal of the change in diversification rate, if present, declines as the diversity drop. Unfortunately, the molecular signature of clades in decline is the same as the signature produced by diversity dependent diversification. Given this similarity, and the inability of current methods to detect declining diversity, it is likely that some of the extant clades that show a decrease in diversification rate, currently interpreted as evidence for diversity dependent diversification, are in fact in decline. Unless methods can be developed that can discriminate between the different modes of diversification, specifically diversity dependent diversification and declining diversity, we will need the fossil record, or data from some other source, to distinguish between these very different diversity trajectories

    Fashion showcases design: perceptions of the showcase in the brazilian popular market

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    The present work aims to present the showcase, its relation with the building, with fashion and with the observer. The importance of this exhibition space extends from the aesthetic and communication functions to be part of a wide textile and clothing chain. This role integrates the whole cycle of creation, textiles, clothing and fashion accessories. For this article we used bibliographical references of design and fashion, as well as methodologies of photographic and ethnographic documentation, with application of focus groups. From the focus groups were identified descriptors related to emotional design. Such descriptors point to the emotions arising from memories, tastes and attitudes. These factors can lead to decisions and assist the wider knowledge of the target audience.- This work is supported by CNPq funding on the Programa Ciencias Sem Fronteiras - CSF by national funds within the scope of the project Processo no 203068/2014-9.info:eu-repo/semantics/publishedVersio

    Relationship between spatial ability, visuospatial working memory and self-assessed spatial orientation ability: a study in older adults

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    This paper describes some novel spatial tasks and questionnaires designed to assess spatial and orientation abilities. The new tasks and questionnaires were administered to a sample of 90 older adults (41 males, age range 57–90), along with some other tests of spatial ability (Minnesota Paper Form Board, Mental Rotations Test, and Embedded Figures Test) and tests of visuospatial working memory (Corsi’s Block Test and Visual Pattern Test). The internal reliability of the new tasks and questionnaires was analyzed, as well as their relationship with the spatial and working memory tests. The results showed that the new spatial tasks are reliable, correlate with working memory and spatial ability tests and, compared with the latters, show stronger correlations with the self-report questionnaires referring to orientation abilities. A model was also tested (with reference to Allen et al. in Intelligence 22:327–355, 1996) in which the new tasks were assumed to relate to spatial ability and predict orientation abilities as assessed by the self-report measures
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