Sistemas de bases de dados orientados por colunas

Dissertação de mestrado em Engenharia de InformáticaNos últimos tempos os sistemas de bases de dados orientados por colunas têm atraído muita atenção, quer por parte de investigadores e modeladores de base de dados, quer por profissionais da área, com particular interesse em aspectos relacionados com arquiteturas, desempenho dos sistemas e sua escalabilidade ou em aplicações de suporte à decisão, nomeadamente em Data Warehousing e Business Inteligence. Ao contrário dos sistema de bases de dados mais tradicionais (“orientados à linha”), neste tipo de sistemas cada coluna de uma tabela de uma base de dados é armazenada separadamente. Deste modo, em vez de se armazenar uma linha seguida de outra, todos os valores de um atributo pertencente à mesma coluna são continuamente comprimidos e armazenados num pacote um pouco mais denso. A aplicação deste tipo de sistemas de bases de dados permite, principalmente, minimizar o tempo das queries típicas de um ambiente data warehousing, que através de sistemas de bases de dados mais convencionais seriam difíceis de minimizar. Neste trabalho, além da abordagem genérica ao tema, desenvolveram-se trabalhos especificamente orientados para a sua aplicação a um caso de estudo real. As técnicas abordadas seguiram de perto a metodologia apresentada por Kimball et al. (2008), tendo-se dado particular enfâse ao modelo de representação dos dados. Após o estudo necessário ter sido realizado, este trabalho focou-se a análise da influência e utilidade dos sistemas de bases de dados orientados por colunas num sistema de data warehousing. Tendo em consideração dois sistemas de bases de dados distintos, um relacional e outro não relacional, aplicou-se um conjunto de queries típicas de um ambiente de data warehousing sobre o mesmo conjunto de dados, apontando as diferenças em nível de tempo. Desta forma, a importância dada à sua estrutura base, funcionalidades, linguagens de descrição, manipulação e controlo, sistemas de gestão, entre outros, acabaria por facilitar o processo de conversão da base de dados em questão, do seu povoamento e a própria exploração das queries no Sistema de Data Warehousing implementado.Recently systems-oriented database columns have drawn the attention from researchers, database modelers and professionals interested in subjects such as architectures, systems performance and its scalability or decision support applications, including Data Warehousing and Business Intelligence. In this type of systems each table’s column of a database is stored separately, unlike the traditional system databases (“line oriented”). Thus instead of storing one line after another, all the values of an attribute belonging to the same column are continuously compressed and stored in a slightly more dense package. The application of this type of database systems enables to reduce the time of queries normally used in a data warehousing environment. This would be unlikely to achieve in conventional database systems. In this project besides the generic approach to the subject applied their approach to a real case study. The techniques used in this project follow Kimball’s methodology [Kimball et al., 2008], putting the stress in the data’s model representation. After a first study has been conducted, this work focused the analysis of the influence and usefulness of database systems oriented for columns in a data warehousing system. Considering two different database systems, i.e. a relational and non-relational system, a set of queries typical of a data warehousing environment was applied on the same data set highlighting the time differences. Thus, the importance given to its basic structure, features, description languages, manipulation and control, management systems, among others, would eventually facilitate the process of converting the database and its settlement and exploration of queries in the implemented data warehousing system

Multivariate analysis of lifestyle, constitutive and body composition factors influencing bone health in community-dwelling older adults from Madeira, Portugal

info:eu-repo/semantics/publishedVersio

SARS-CoV-2 introductions and early dynamics of the epidemic in Portugal

Genomic surveillance of SARS-CoV-2 in Portugal was rapidly implemented by the National Institute of Health in the early stages of the COVID-19 epidemic, in collaboration with more than 50 laboratories distributed nationwide. Methods By applying recent phylodynamic models that allow integration of individual-based travel history, we reconstructed and characterized the spatio-temporal dynamics of SARSCoV-2 introductions and early dissemination in Portugal. Results We detected at least 277 independent SARS-CoV-2 introductions, mostly from European countries (namely the United Kingdom, Spain, France, Italy, and Switzerland), which were consistent with the countries with the highest connectivity with Portugal. Although most introductions were estimated to have occurred during early March 2020, it is likely that SARS-CoV-2 was silently circulating in Portugal throughout February, before the first cases were confirmed. Conclusions Here we conclude that the earlier implementation of measures could have minimized the number of introductions and subsequent virus expansion in Portugal. This study lays the foundation for genomic epidemiology of SARS-CoV-2 in Portugal, and highlights the need for systematic and geographically-representative genomic surveillance.We gratefully acknowledge to Sara Hill and Nuno Faria (University of Oxford) and Joshua Quick and Nick Loman (University of Birmingham) for kindly providing us with the initial sets of Artic Network primers for NGS; Rafael Mamede (MRamirez team, IMM, Lisbon) for developing and sharing a bioinformatics script for sequence curation (https://github.com/rfm-targa/BioinfUtils); Philippe Lemey (KU Leuven) for providing guidance on the implementation of the phylodynamic models; Joshua L. Cherry (National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health) for providing guidance with the subsampling strategies; and all authors, originating and submitting laboratories who have contributed genome data on GISAID (https://www.gisaid.org/) on which part of this research is based. The opinions expressed in this article are those of the authors and do not reflect the view of the National Institutes of Health, the Department of Health and Human Services, or the United States government. This study is co-funded by Fundação para a Ciência e Tecnologia and Agência de Investigação Clínica e Inovação Biomédica (234_596874175) on behalf of the Research 4 COVID-19 call. Some infrastructural resources used in this study come from the GenomePT project (POCI-01-0145-FEDER-022184), supported by COMPETE 2020 - Operational Programme for Competitiveness and Internationalisation (POCI), Lisboa Portugal Regional Operational Programme (Lisboa2020), Algarve Portugal Regional Operational Programme (CRESC Algarve2020), under the PORTUGAL 2020 Partnership Agreement, through the European Regional Development Fund (ERDF), and by Fundação para a Ciência e a Tecnologia (FCT).info:eu-repo/semantics/publishedVersio

Cloning, Characterization, and Expression Levels of the Nectin Gene from the Tube Feet of the Sea Urchin Paracentrotus Lividus

Marine bioadhesives perform in ways that manmade products simply cannot match, especially in wet environments. Despite their technological potential, bioadhesive molecular mechanisms are still largely understudied, and sea urchin adhesion is no exception. These animals inhabit wave-swept shores, relying on specialized adhesive organs, tube feet, composed by an adhesive disc and a motile stem. The disc encloses a duo-gland adhesive system, producing adhesive and deadhesive secretions for strong reversible substratum attachment. The disclosure of sea urchin Paracentrotus lividus tube foot disc proteome led to the identification of a secreted adhesion protein, Nectin, never before reported in adult adhesive organs but, that given its adhesive function in eggs/embryos, was pointed out as a putative substratum adhesive protein in adults. To further understand Nectin involvement in sea urchin adhesion, Nectin cDNA was amplified for the first time from P. lividus adhesive organs, showing that not only the known Nectin mRNA, called Nectin-1 (GenBank AJ578435), is expressed in the adults tube feet but also a new mRNA sequence, called Nectin-2 (GenBank KT351732), differing in 15 missense nucleotide substitutions. Nectin genomic DNA was also obtained for the first time, indicating that both Nectin-1 and Nectin-2 derive from a single gene. In addition, expression analysis showed that both Nectins are overexpressed in tube feet discs, its expression being significantly higher in tube feet discs from sea urchins just after collection from the field relative to sea urchin from aquarium. These data further advocate for Nectin involvement in sea urchin reversible adhesion, suggesting that its expression might be regulated according to the hydrodynamic conditions.info:eu-repo/semantics/publishedVersio

Cognitive function and its associations in older adults from Amazonas, Brazil

The objectives of this study were: (1) to investigate the age-related differences in cognitive function (CF), nutritional status (MNA), physical activity (AF), quality of life (QoL), depression, social sat- isfaction (SS) and socioeconomic status (SES), and (2) to explore the relationships between CF and the previous variables. This cross sectional study included 268 men and 433 women (aged 71.4 ± 7.0 years). CF was determined with the Cognitive Telephone Screening Instrument (COGTEL) and the Mini-Mental State Examination (MMSE). Correlates were as follows: Mini Nutritional Assessment (MNA), PA (Baecke questionnaire modified for older adults), Quality of life (QoL SF- 12), Geriatrics Depression Scale (GDS), Satisfaction and Social Support Scale, and Socioeconomic status (SES). All instruments were applied in a face to face interview. An independent t-test identi- fied significantly higher scores in young-old adults (≤ 69 years) for CF (p < 0.001), PA (p = 0.046) and SES (p = 0.007), compared to old-old adults (≥ 70 years). The results of multiple linear regression analysis indicated that the most significant CF correlates were SES (β = 0.45; p < 0.001), age (β = -0.12; p < 0.001), SS (β = 0.12; p = 0.001), GDS (β = -0.11; p = 0.003) and QoL (β = 0.08; p = 0.017). The overall regression model explained 36% of the total variance in the COGTEL. The oldest and the more depressed adults obtained lower scores for FC. The present study suggests that, between the correlates studied, SES was the strongest predictor in the explanation of CF in older adults

BURACO DE MÁCULA: UM RELATO DE CASO

&lt;p&gt;A terminologia buraco macular é usada para descrever manifestações patológicas da mácula, clínica e histopatologicamente distintas, que variam desde uma discreta alteração da membrana limitante interna até uma completa escavação da retina neurossensorial. Muitas vezes, sendo uma condição idiopática relacionada à idade, que acomete principalmente pacientes do sexo feminino, como no caso estudado. A paciente, F.C.S.O, 63 anos, professora aposentada, procedente e residente em Juazeiro-BA, onde foi diagnosticada em 2021 com buraco de mácula no olho direito. No decorrer do ano, realizou duas cirurgias de vitrectomia, além do tratamento com medicamentos intravítreos, desistindo da terapêutica pelas dificuldades pós-cirúrgicas e pela não melhora dos sintomas, uma vez que consegue conviver com a enfermidade. Mediante ao caso, podemos perceber que o buraco macular é uma patologia que ainda não possui um tratamento que dispõe de grande êxito, além de que apresenta um pós-cirúrgico esgotante e penoso. Pode-se também perceber que atualmente, ainda são limitados os trabalhos científicos que estudam sobre o tema.&lt;/p&gt

Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype

Familial hypercholesterolemia (FH) is a common genetic disorder of lipid metabolism caused by pathogenic/likely pathogenic variants in LDLR, APOB, and PCSK9 genes. Variants in FH-phenocopy genes (LDLRAP1, APOE, LIPA, ABCG5, and ABCG8), polygenic hypercholesterolemia, and hyperlipoprotein (a) [Lp(a)] can also mimic a clinical FH phenotype. We aim to present a new diagnostic tool to unravel the genetic background of clinical FH phenotype. Biochemical and genetic study was performed in 1,005 individuals with clinical diagnosis of FH, referred to the Portuguese FH Study. A next-generation sequencing panel, covering eight genes and eight SNPs to determine LDL-C polygenic risk score and LPA genetic score, was validated, and used in this study. FH was genetically confirmed in 417 index cases: 408 heterozygotes and 9 homozygotes. Cascade screening increased the identification to 1,000 FH individuals, including 11 homozygotes. FH-negative individuals (phenotype positive and genotype negative) have Lp(a) >50 mg/dl (30%), high polygenic risk score (16%), other monogenic lipid metabolism disorders (1%), and heterozygous pathogenic variants in FH-phenocopy genes (2%). Heterozygous variants of uncertain significance were identified in primary genes (12%) and phenocopy genes (7%). Overall, 42% of our cohort was genetically confirmed with FH. In the remaining individuals, other causes for high LDL-C were identified in 68%. Hyper-Lp(a) or polygenic hypercholesterolemia may be the cause of the clinical FH phenotype in almost half of FH-negative individuals. A small part has pathogenic variants in ABCG5/ABCG8 in heterozygosity that can cause hypercholesterolemia and should be further investigated. This extended next-generation sequencing panel identifies individuals with FH and FH-phenocopies, allowing to personalize each person’s treatment according to the affected pathway

Data_Sheet_1_Data-driven, cross-disciplinary collaboration: lessons learned at the largest academic health center in Latin America during the COVID-19 pandemic.PDF

IntroductionThe COVID-19 pandemic has prompted global research efforts to reduce infection impact, highlighting the potential of cross-disciplinary collaboration to enhance research quality and efficiency.MethodsAt the FMUSP-HC academic health system, we implemented innovative flow management routines for collecting, organizing and analyzing demographic data, COVID-related data and biological materials from over 4,500 patients with confirmed SARS-CoV-2 infection hospitalized from 2020 to 2022. This strategy was mainly planned in three areas: organizing a database with data from the hospitalizations; setting-up a multidisciplinary taskforce to conduct follow-up assessments after discharge; and organizing a biobank. Additionally, a COVID-19 curated collection was created within the institutional digital library of academic papers to map the research output.ResultsOver the course of the experience, the possible benefits and challenges of this type of research support approach were identified and discussed, leading to a set of recommended strategies to enhance collaboration within the research institution. Demographic and clinical data from COVID-19 hospitalizations were compiled in a database including adults and a minority of children and adolescents with laboratory confirmed COVID-19, covering 2020–2022, with approximately 350 fields per patient. To date, this database has been used in 16 published studies. Additionally, we assessed 700 adults 6 to 11 months after hospitalization through comprehensive, multidisciplinary in-person evaluations; this database, comprising around 2000 fields per subject, was used in 15 publications. Furthermore, thousands of blood samples collected during the acute phase and follow-up assessments remain stored for future investigations. To date, more than 3,700 aliquots have been used in ongoing research investigating various aspects of COVID-19. Lastly, the mapping of the overall research output revealed that between 2020 and 2022 our academic system produced 1,394 scientific articles on COVID-19.DiscussionResearch is a crucial component of an effective epidemic response, and the preparation process should include a well-defined plan for organizing and sharing resources. The initiatives described in the present paper were successful in our aim to foster large-scale research in our institution. Although a single model may not be appropriate for all contexts, cross-disciplinary collaboration and open data sharing should make health research systems more efficient to generate the best evidence.</p