732 research outputs found

    As ilhas, os arquivos e a história : o caso dos Açores

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    Nos Açores, a força da geografia define o carácter da história, que evidencia expressões bem diferenciadas. Por um lado, as ilhas agem como meio de aproximação dos continentes, equivalendo a um sinónimo de universalidade, que resulta de um privilegiado posicionamento no Atlântico Norte, movido pelo determinismo do mar e pelas condições da navegação à vela. Por outro lado, as ilhas figuram como factor de cristalização de comportamentos, correspondendo a um sinónimo de isolamento, motivado pelo afastamento do mundo e pela descontinuidade territorial interna. Nestas circunstâncias, os planos insulares de pesquisa histórica primam naturalmente pela pluralidade dos objectivos. Assim, demonstram uma participação muito activa na construção do mundo atlântico, que obriga à integração das investigações açorianas nas categorias mais universais do saber, mas aconselham também à realização de estudos de incidência local, conducentes à individualização de idiossincracias, que derivam da divisão do arquipélago em nove parcelas muito desiguais. Em 1979, por altura da publicação do seu livro O Arquipélago dos Açores no Século XVII: aspectos sócio-económicos (1575-1675), Maria Olímpia da Rocha Gil reconhece precisamente a indispensabilidade do desenvolvimento da investigação histórica açoriana de acordo com duas linhas ao mesmo tempo dissemelhantes e convergentes: “... em primeiro, aquela que nos leva a considerar que a história do arquipélago se integra no longo processo da história do Atlântico; em segundo lugar, a que se orienta para o estudo da evolução histórica local tendo em conta as características que lhe são próprias”. No entanto, desde tempos quase imemoriais, diversos cronistas e historiadores evidenciam um entendimento muito semelhante, que certifica a complexidade dos estudos históricos insulares. A comprová-lo, atentemos nas Saudades da Terra do Doutor Gaspar Frutuoso, redigidas logo no termo do século XVI, que relevam de uma assentada as especificidades locais, as correlações com os demais arquipélagos da Macaronésia e o envolvimento nas dinâmicas do Atlântico. [...

    Relationship between cerebral oxygenation, cardiac output, and blood pressure during transitional period in extremely low gestational age neonates

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    ObjectiveTo describe the relationship between cerebral oxygenation, cardiac output, arterial blood pressure (BP), and cerebral blood flow velocity in extremely low gestational age neonates (ELGANs) during transition.MethodsThis study comprises secondary analyses from a prospective observational study conducted at a tertiary Neonatal Intensive Care Unit. Recruited ELGANs underwent cerebral saturation (CrSO2) monitoring and serial echocardiography during 72 h from birth. Correlative analyses of CrSO2 and cerebral fractional tissue oxygen extraction (CFTOE) with left (LVO) and right ventricular output (RVO), superior vena cava (SVC) flow, middle cerebral artery blood flow mean velocity (MCA.MV), systolic (SBP), diastolic (DBP), and mean (MBP) BP were conducted.ResultsFifty ELGANs with median (range) gestational age of 25.9 (23.1–27.9) weeks were recruited. Echocardiography was performed sequentially at a median (range) age 5.0 (3.8–6.6), 17.3 (15.4–19.4), 31.0 (27.0–34.1), and 53.7 (49.3–58.3) hours. RVO, LVO, CrSO2, and SBP increased over time but no changes in MBP, DBP, CFTOE, MCA.MV or SVC flow were noted. A weak correlation was identified between CrSO2 and SBP (r2 = 0.11, p = 0.047) and MBP (r2 = 0.12, p = 0.04) at 17.3 (15.4–19.4) hours. No correlation of either CrSO2 or CFTOE with any measures of blood flow was identified.ConclusionThere is a weak correlation between measures of cardiac output, BP, and MCA.MV with both CrSO2 and CFTOE in ELGANs during transition. Whether this finding suggests intact cerebral autoregulation requires prospective evaluation in a cohort of sick ELGANs

    The “Outcome Reporting in Brief Intervention Trials: Alcohol” (ORBITAL) core outcome set:International consensus on outcomes to measure in efficacy and effectiveness Trials of alcohol brief interventions

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    Objective: The purpose of this study was to report the “Outcome Reporting in Brief Intervention Trials: Alcohol” (ORBITAL) recommended core outcome set (COS) to improve efficacy and effectiveness trials/evaluations for alcohol brief interventions (ABIs). Method: A systematic review identified 2,641 outcomes in 401 ABI articles measured by 1,560 different approaches. These outcomes were classified into outcome categories, and 150 participants from 19 countries participated in a two-round e-Delphi outcome prioritization exercise. This process prioritized 15 of 93 outcome categories for discussion at a consensus meeting of key stakeholders to decide the COS. A psychometric evaluation determined how to measure the outcomes. Results: Ten outcomes were voted into the COS at the consensus meeting: (a) typical frequency, (b) typical quantity, (c) frequency of heavy episodic drinking, (d) combined consumption measure summarizing alcohol use, (e) hazardous or harmful drinking (average consumption), (f) standard drinks consumed in the past week (recent, current consumption), (g) alcohol-related consequences, (h) alcohol-related injury, (i) use of emergency health care services (impact of alcohol use), and (j) quality of life. Conclusions: The ORBITAL COS is an international consensus standard for future ABI trials and evaluations. It can improve the synthesis of new findings, reduce redundant/selective reporting (i.e., reporting only some, usually significant outcomes), improve between-study comparisons, and enhance the relevance of trial and evaluation findings to decision makers. The COS is the recommended minimum and does not exclude other, additional outcomes

    The 'Outcome Reporting in Brief Intervention Trials: Alcohol' (ORBITAL) framework: protocol to determine a core outcome set for efficacy and effectiveness trials of alcohol screening and brief intervention

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    Background: The evidence base to assess the efficacy and effectiveness of alcohol brief interventions (ABI) is weakened by variation in the outcomes measured and by inconsistent reporting. The 'Outcome Reporting in Brief Intervention Trials: Alcohol' (ORBITAL) project aims to develop a core outcome set (COS) and reporting guidance for its use in future trials of ABI in a range of settings. Methods/design: An international Special Interest Group was convened through INEBRIA (International Network on Brief Interventions for Alcohol and Other Drugs) to inform the development of a COS for trials of ABI. ORBITAL will incorporate a systematic review to map outcomes used in efficacy and effectiveness trials of ABI and their measurement properties, using the COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) criteria. This will support a multi-round Delphi study to prioritise outcomes. Delphi panellists will be drawn from a range of settings and stakeholder groups, and the Delphi study will also be used to determine if a single COS is relevant for all settings. A consensus meeting with key stakeholder representation will determine the final COS and associated guidance for its use in trials of ABI. Discussion: ORBITAL will develop a COS for alcohol screening and brief intervention trials, with outcomes stratified into domains and guidance on outcome measurement instruments. The standardisation of ABI outcomes and their measurement will support the ongoing development of ABI studies and a systematic synthesis of emerging research findings. We will track the extent to which the COS delivers on this promise through an exploration of the use of the guidance in the decade following COS publication.We would like to thank and acknowledge the funding from Alcohol Research UK (Research Innovation Grant Number: R2016/04) and the INEBRIA ORBITAL SIG for feedback and useful commentary at the INEBRIA 2016 conference workshop on the topic

    Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

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    The Rho-guanine nucleotide exchange factor (RhoGEF) TRIO acts as a key regulator of neuronal migration, axonal outgrowth, axon guidance, and synaptogenesis by activating the GTPase RAC1 and modulating actin cytoskeleton remodeling. Pathogenic variants in TRIO are associated with neurodevelopmental diseases, including intellectual disability (ID) and autism spectrum disorders (ASD). Here, we report the largest international cohort of 24 individuals with confirmed pathogenic missense or nonsense variants in TRIO. The nonsense mutations are spread along the TRIO sequence, and affected individuals show variable neurodevelopmental phenotypes. In contrast, missense variants cluster into two mutational hotspots in the TRIO sequence, one in the seventh spectrin repeat and one in the RAC1-activating GEFD1. Although all individuals in this cohort present with developmental delay and a neuro-behavioral phenotype, individuals with a pathogenic variant in the seventh spectrin repeat have a more severe ID associated with macrocephaly than do most individuals with GEFD1 variants, who display milder ID and microcephaly. Functional studies show that the spectrin and GEFD1 variants cause a TRIO-mediated hyper- or hypo-activation of RAC1, respectively, and we observe a striking correlation between RAC1 activation levels and the head size of the affected individuals. In addition, truncations in TRIO GEFD1 in the vertebrate model X. tropicalis induce defects that are concordant with the human phenotype. This work demonstrates distinct clinical and molecular disorders clustering in the GEFD1 and seventh spectrin repeat domains and highlights the importance of tight control of TRIO-RAC1 signaling in neuronal development.<br/
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