Suchergebnisse

The objective of this study was to evaluate the effect of cutting age on the production, chemical composition, degradation kinetics and anatomy of Leucena (Leucaena leucocephala). The experimental design was a completely randomized design with a factorial arrangement 2x4 (two types of tissues and four cutting ages) for the production data of dry matter and 3x4 (three degrees of degrees of digestion of tissues and four cutting ages). Observed effect (P < 0.05) for the total production of DM of Leucena in function of different ages. The tissue types grain and non-grain showed maximum production at 70 days of age, with production of 2333,00 and 716.60 kg DM ha-1, respectively. The parameters of degradation of DM evaluated decreased significantly with the increase in the maturity of the plant, in the same way the chemical composition presented behavior inherent to the advance of age. The effective degradability DM also decreased with the increase in the rate of passage (2, 5, and 8% h-1). The highest rate of degradation (c) was obtained for 30 days. With the advance in plant maturity increases the proportion of vascular tissue lignificad influencing parameters of ruminal degradation of Leucena. The ages assessed influenced the chemical composition of the Leucena (P < 0.05), where the levels of dry matter, crude protein, acid detergent fiber and lignin and ash showed increasing linear behavior. The cutting age of 70 days offers an optimal point regarding the proportion of anatomical tissues correlated with the degradation and chemical composition of the Leucena.

Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and clinical environments. The Solve-RD project aims to reveal the molecular causes underlying undiagnosed rare diseases. One of the goals is to implement innovative approaches to reanalyse the exomes and genomes from thousands of well-studied undiagnosed cases. The raw genomic data is submitted to Solve-RD through the RD-Connect Genome-Phenome Analysis Platform (GPAP) together with standardised phenotypic and pedigree data. We have developed a programmatic workflow to reanalyse genome-phenome data. It uses the RD-Connect GPAP's Application Programming Interface (API) and relies on the big-data technologies upon which the system is built. We have applied the workflow to prioritise rare known pathogenic variants from 4411 undiagnosed cases. The queries returned an average of 1.45 variants per case, which first were evaluated in bulk by a panel of disease experts and afterwards specifically by the submitter of each case. A total of 120 index cases (21.2% of prioritised cases, 2.7% of all exome/genome-negative samples) have already been solved, with others being under investigation. The implementation of solutions as the one described here provide the technical framework to enable periodic case-level data re-evaluation in clinical settings, as recommended by the American College of Medical Genetics. ; The Solve-RD project has received funding from the European Union's Horizon 2020 research and innovation programme under grant agreement No 779257. Data were analysed using the RD‐Connect Genome‐Phenome Analysis Platform, which received funding from EU projects RD‐Connect, Solve-RD and EJP-RD (grant numbers FP7 305444, H2020 779257, H2020 825575), Instituto de Salud Carlos III (grant numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinformática, INB) and ELIXIR Implementation Studies.

Thiosemicarbazones (TSCs), and their copper derivatives, have been extensively studied mainly due to the potential applications as antitumor compounds. A part of the biological activity of the TSC-CuII complexes rests on their reactivity against cell reductants, as glutathione (GSH). The present paper describes the structure of the [Cu(PTSC)(ONO2)]n compound (1) (HPTSC =pyridine-2-carbaldehyde thiosemicarbazone) and its spectroscopic and magnetic properties. ESI studies performed on the reaction of GSH with 1 and the analogous [{Cu (PTSC*)(ONO2)}2] derivative (2, HPTSC* =pyridine-2-carbaldehyde 4N-methylthiosemicarbazone) show the absence of peaks related with TSC-Cu-GSH species. However GSH-Cu ones are detected, in good agreement with the release of CuI ions after reduction in the experimental conditions. The reactivity of 1 and 2 with cytochrome c and myoglobin and their activities against HT-29 and SW-480 colon carcinoma cell lines are compared with those shown by the free HPTSC and HPTSC* ligands. ; Obra Social "la Caixa" (OSLC-2012-007), Ministerio de Economía y Competitividad and FEDER funds (CTQ2013-48937-C2-1-P, CTQ2015-70371-REDT, MAT2015-66441-P, BIO2015-67358-C2-2-P), Junta de Castilla y León (BU237U13), Gerencia Regional de Salud, Consejería de Sanidad, Junta de Castilla y León (GRS 1023/A/14), the Basque Government (project IT-779-13)

Background and objective: The spread of self-care holds the promise of containing chronic illness burden. Falling within the framework of a FP7 collaborative research project, this paper reports the views of key informants from six countries regarding who the main stakeholders are at different levels in the support system for self-care for patients with chronic illness (SSSC) and how they accomplish their role and collaborate. Methods: 90 Interviews with purposefully selected key informants from Bulgaria, Greece, the Netherlands, Norway, Spain and United Kingdom were conducted. Interviews involved government and local authorities, politicians, academics, health professionals and private sector representatives. Interviewers followed an expert opinion-based guide. Analysis involved a cross-country examination with thematic analysis and framework method techniques. Results Key informants described the ideal SSSC as inclusive, interdependent and patient-centred. The following main stakeholders in SSSC were identified: patients, governments, health-care professionals, associations, private companies and the media. In the current SSSCs, collaboration among stakeholders within and across different levels was said to be lacking. Patients were seen as playing a passive subordinate role based on the following: their own attitudes; the paternalistic and medicalized attitudes of the health-care professionals; their misrepresentation by patient associations; and their exposure to the damaging influences of media and industries. Conclusions Making SSSC patient-centred constitutes the greatest challenge for European authorities. Strategies must be revised for promoting patient participation. They should undergo changes so as to promote industry and media social responsibility and patient association advocacy capacity.

The HIV/AIDS epidemic in sub-Saharan Africa has been addressed and perceived predominantly through the broad perspectives of social and economic theories as well as public health and development discourses. This volume however, focuses on the micro-politics of illness, treatment and death in order to offer innovative insights into the complex processes that shape individual and community responses to AIDS. The contributions describe the dilemmas that families, communities and health professionals face and shed new light on the transformation of social and moral orders in African societies, which have been increasingly marginalised in the context of global modernity

© 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). ; The increasing number of human biomonitoring (HBM) studies undertaken in recent decades has brought to light the need to harmonise procedures along all phases of the study, including sampling, data collection and analytical methods to allow data comparability. The first steps towards harmonisation are the identification and collation of HBM methodological information of existing studies and data gaps. Systematic literature reviews and meta-analyses have been traditionally put at the top of the hierarchy of evidence, being increasingly applied to map available evidence on health risks linked to exposure to chemicals. However, these methods mainly capture peer-reviewed articles, failing to comprehensively identify other important, unpublished sources of information that are pivotal to gather a complete map of the produced evidence in the area of HBM. Within the framework of the European Human Biomonitoring Initiative (HBM4EU) initiative-a project that joins 30 countries, 29 from Europe plus Israel, the European Environment Agency and the European Commission-a comprehensive work of data triangulation has been made to identify existing HBM studies and data gaps across countries within the consortium. The use of documentary analysis together with an up-to-date platform to fulfil this need and its implications for research and practice are discussed. ; HBM4EU has received funding from the European Union's Horizon 2020 research and innovation programme under grant agreement No 733032. ; info:eu-repo/semantics/publishedVersion

The increasing number of human biomonitoring (HBM) studies undertaken in recent decades has brought to light the need to harmonise procedures along all phases of the study, including sampling, data collection and analytical methods to allow data comparability. The first steps towards harmonisation are the identification and collation of HBM methodological information of existing studies and data gaps. Systematic literature reviews and meta-analyses have been traditionally put at the top of the hierarchy of evidence, being increasingly applied to map available evidence on health risks linked to exposure to chemicals. However, these methods mainly capture peer-reviewed articles, failing to comprehensively identify other important, unpublished sources of information that are pivotal to gather a complete map of the produced evidence in the area of HBM. Within the framework of the European Human Biomonitoring Initiative (HBM4EU) initiative-a project that joins 30 countries, 29 from Europe plus Israel, the European Environment Agency and the European Commission-a comprehensive work of data triangulation has been made to identify existing HBM studies and data gaps across countries within the consortium. The use of documentary analysis together with an up-to-date platform to fulfil this need and its implications for research and practice are discussed. ; HBM4EU has received funding from the European Union's Horizon 2020 research and innovation programme under grant agreement No 733032. ; Sí

Converting assemblages of marine protected areas (MPAs) into functional MPA networks requires political will, multidisciplinary information, coordinated action and time. We developed a new framework to assist planning environmental representativity in a network across the marine space of Portugal, responding to a political commitment to protect 14% of its area by 2020. An aggregate conservation value was estimated for each of the 27 habitats identified, from intertidal waters to the deep sea. This value was based on expert-judgment scoring for environmental properties and features relevant for conservation, chosen to reflect the strategic objectives of the network, thus providing an objective link between conservation commitments and habitat representativity in space. Additionally, habitats' vulnerability to existing anthropogenic pressures and sensitivity to climate change were also scored. The area coverage of each habitat in Portugal and within existing MPAs (regionally and nationally) was assigned to a scale of five orders of magnitude (from 10%) to assess rarity and existing representation. Aggregate conservation value per habitat was negatively correlated with area coverage, positively correlated with vulnerability and was not correlated with sensitivity. The proposed framework offers a multi-dimensional support tool for MPA network development, in particular regarding the prioritization of new habitats to protect, when the goal is to achieve specific targets while ensuring representativity across large areas and complex habitat mosaics. It requires less information and computation effort in comparison to more quantitative approaches, while still providing an objective instrument to scrutinize progress on the implementation of politically set conservation targets. ; Agência financiadora Número do subsídio Oceanic Observatory of Madeira M1420-01-0145-FEDER-000001-OOM national funds through FCT UID/BIA/00329/2013 UID/Multi/04326/2013 Fundacao para a Ciencia e a Tecnologia ...

EXECUTIVE Summary This brief outlines simplified Open Science Learning Objectives for the main stakeholders in the Research Ecosystem. Learning Objectives are structured by Open Science Topics according to a functional Open Science Taxonomy (Pontica et al., 2015), that accompany the main responsibilities of each stakeholders along the Research Lifecycle. The ultimate objective is to support the integration of Open Science best practices into the daily routine of performing and supporting research, to underpin implementation of Horizon 2020 Mandate on Access to Scientific Information, and augment the "societal impact" and uptake of research, for the benefit of all stakeholders in the knowledge creation process (ultimately underpinning "co-creation"). Specific Learning Objectives are structured in increasing level of competence, frequently ending with successful integration of Open Science best practices in the daily research routine, facilitating self-assessment of the personal workflow. The Learning Objectives can provide a backbone for a structured learning plan for Doctoral Schools with the ambition to train future researchers in optimizing their societal impact, alongside research excellence training, as well as preparing graduates for new and emerging research impact measures and criteria. Support with relevant training content will be provided in parallel through the FOSTER Portal and accompanying e-Learning and self-learning modules. The brief draws on FP7 FOSTER Work Packages 2 Content, WP3 Portal (Open Science Taxonomy, and learning portal infrastructure) and WP4 Training (Deliverable D4.5 Training ToolKit). RATIONALE: The political drive for Open Science from the funding agency (EC[1]) point of view is mainly Return On Investment (ROI), ethics (taxpayer access to public funded research), and stimulating Open Innovation[2] through free-flow of ideas in order to boost economic growth through transfer of knowledge to the knowledge-based Small/Medium Enterprises (SMEs). The Open Science community of ...

Autozygosity is associated with an increased risk of genetic rare disease, thus being a relevant factor for clinical genetic studies. More than 2400 exome sequencing data sets were analyzed and screened for autozygosity on the basis of detection of >1 Mbp runs of homozygosity (ROHs). A model was built to predict if an individual is likely to be a consanguineous offspring (accuracy, 98%), and probability of consanguinity ranges were established according to the total ROH size. Application of the model resulted in the reclassification of the consanguinity status of 12% of the patients. The analysis of a subset of 79 consanguineous cases with the Rare Disease (RD)-Connect Genome-Phenome Analysis Platform, combining variant filtering and homozygosity mapping, enabled a 50% reduction in the number of candidate variants and the identification of homozygous pathogenic variants in 41 patients, with an overall diagnostic yield of 52%. The newly defined consanguinity ranges provide, for the first time, specific ROH thresholds to estimate inbreeding within a pedigree on disparate exome sequencing data, enabling confirmation or (re)classification of consanguineous status, hence increasing the efficiency of molecular diagnosis and reporting on secondary consanguinity findings, as recommended by American College of Medical Genetics and Genomics guidelines. ; Supported by European Union projects RD-Connect, Solve-RD, and European Joint Programme of Rare Diseases (EJP-RD) grants FP7 305444, H2020 779257, and H2020 825575; Instituto de Salud Carlos III grants PT13/0001/0044 and PT17/0009/0019; Instituto Nacional de Bioinformática; ELIXIR Implementation Studies; European Union projects BBMRI-LPC EU FP7 313010, NeurOmics EU FP7 305121, and Undiagnosed Rare Disease Program of Catalonia (Departament de Salut, Generalitat de CatalunyaSLT002/16/00174); Canadian Institutes of Health Research Foundation grant FDN-167281 (H.L.); the European Research Council309548 (R.H.); the Wellcome Investigator Award 109915/Z/15/Z (R.H.); the Medical Research Council (United Kingdom) MR/N025431/1 (R.H.); the Wellcome Trust Pathfinder Scheme 201064/Z/16/Z (R.H. and H.L.); the Newton Fund (United Kingdom/Turkey) MR/N027302/1 (R.H. and H.L.); the Spanish Ministry of Economy, Industry and Competitiveness to the European Molecular Biology Laboratory (EMBL) partnership; the Centro de Excelencia Severo Ochoa; the Centres de Recerca de Catalunya (CERCA) Program/Generalitat de Catalunya; the Generalitat de Catalunya through the Department of Health and Department of Business and Knowledge; the Spanish Ministry of Economy, Industry and Competitiveness with funds from the European Regional Development Fund corresponding to the 2014 to 2020 Smart Growth Operating Program.