2,348 research outputs found

    Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

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    Background: Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies. Methods: For this cross-sectional study, we assessed children and adolescents younger than 18 years with a clinical or genetic diagnosis of HeFH at the time of entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry between Oct 1, 2015, and Jan 31, 2021. Data in the registry were collected from 55 regional or national registries in 48 countries. Diagnoses relying on self-reported history of familial hypercholesterolaemia and suspected secondary hypercholesterolaemia were excluded from the registry; people with untreated LDL cholesterol (LDL-C) of at least 13·0 mmol/L were excluded from this study. Data were assessed overall and by WHO region, World Bank country income status, age, diagnostic criteria, and index-case status. The main outcome of this study was to assess current identification and management of children and adolescents with familial hypercholesterolaemia. Findings: Of 63 093 individuals in the FHSC registry, 11 848 (18·8%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (50·2%) of 11 476 included individuals were female and 5720 (49·8%) were male. Sex data were missing for 372 (3·1%) of 11 848 individuals. Median age at registry entry was 9·6 years (IQR 5·8-13·2). 10 099 (89·9%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (10·1%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (5·2%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [92·4%] of 10 202) than in children and adolescents from non-high-income countries (199 [48·0%] of 415). 3414 (31·6%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (72·4%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 5·00 mmol/L (IQR 4·05-6·08). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50-75% of children and adolescents with familial hypercholesterolaemia not being identified. Interpretation: Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation. Where genetic testing is unavailable, increased availability and use of LDL-C measurements in the first few years of life could help reduce the current gap between prevalence and detection, enabling increased use of combination LLM to reach recommended LDL-C targets early in life

    Consistent patterns of common species across tropical tree communities

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    International audienceAbstract Trees structure the Earth’s most biodiverse ecosystem, tropical forests. The vast number of tree species presents a formidable challenge to understanding these forests, including their response to environmental change, as very little is known about most tropical tree species. A focus on the common species may circumvent this challenge. Here we investigate abundance patterns of common tree species using inventory data on 1,003,805 trees with trunk diameters of at least 10 cm across 1,568 locations 1–6 in closed-canopy, structurally intact old-growth tropical forests in Africa, Amazonia and Southeast Asia. We estimate that 2.2%, 2.2% and 2.3% of species comprise 50% of the tropical trees in these regions, respectively. Extrapolating across all closed-canopy tropical forests, we estimate that just 1,053 species comprise half of Earth’s 800 billion tropical trees with trunk diameters of at least 10 cm. Despite differing biogeographic, climatic and anthropogenic histories 7 , we find notably consistent patterns of common species and species abundance distributions across the continents. This suggests that fundamental mechanisms of tree community assembly may apply to all tropical forests. Resampling analyses show that the most common species are likely to belong to a manageable list of known species, enabling targeted efforts to understand their ecology. Although they do not detract from the importance of rare species, our results open new opportunities to understand the world’s most diverse forests, including modelling their response to environmental change, by focusing on the common species that constitute the majority of their trees

    Implementação de uma visita domiciliária pré-admissão na equipa de cuidados continuados integrados : papel do enfermeiro na integração dos cuidados

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    Introdução: O processo de transição entre instituições de internamento e o domicílio acarreta mudanças e adaptações sobretudo do cuidador informal. A integração e a continuidade dos cuidados devem estar patentes na intervenção dos enfermeiros para com o cuidador/utente/família. Objetivos: Conhecer as dificuldades vivenciadas pelos cuidadores informais no cuidar o familiar/utente no domicílio; Identificar as ferramentas utilizadas pelos mesmos para as ultrapassar; Conhecer os apoios que dispõem para a prestação de cuidados no domicílio; Conhecer a sua opinião sobre a importância de uma visita domiciliária antes do doente ir para domicílio e por fim criar um projeto de intervenção Integrar+ . Métodos: Estudo qualitativo descritivo e exploratório com enfoque fenomenológico-hermenêutico e com uma amostra de 8 cuidadores. Recorreu-se à entrevista semiestruturada (ad hoc). Resultados: Os cuidadores informais não se sentiam preparados para receber o familiar/utente no domicílio, a maioria não tinha a habitação adaptada. As necessidades mencionadas foram físicas, psicológicas/emocionais, financeiras, sociais e indisponibilidade. O coping emocional, apoios familiar, social e para os autocuidados, capacitação dos cuidadores informais e familiar/utente e cuidados de saúde foram referidas como estratégias. Conclusão: A Enfermagem Comunitária, focada na comunidade, está habilitada para capacitar os cuidadores informais de competências que promovam a segurança e a qualidade dos cuidados prestados, englobando-os no plano de cuidados, detetando e minimizando eventuais dificuldades emergentes da transição do utente entre instituições. A articulação entre a Equipa de Cuidados Continuados Integrados e as entidades referenciadoras, é fundamental para que haja uma transição segura dos cuidados, com ganhos em saúde dos cuidadores informais, utentes e famílias. Palavras-chave: Cuidador informal; Continuidade de cuidados; Integração dos cuidados, Enfermagem Comunitária.Abstract Introduction: The transition process between inpatient institutions and the home entails changes and adaptations, especially for the informal caregiver. The integration and continuity of care must be present in the intervention of nurses in the caregiver / user / family. Objectives: To understand the difficulties experienced by informal caregivers in providing care to the family member/ patient at home; Identify the tools used by them to overcome those difficulties; to understand the support they have for the provision of care at home, understand their perception of the importance of a home visit before the patient goes home and finally create an intervention project designated: Integrar+ . Methods: Qualitative descriptive and exploratory study with a phenomenological-hermeneutic approach, with a sample of 8 caregivers, using a semi-structured interview (ad hoc). Results: It was found that informal caregivers did not feel prepared to receive the family member/patient at home, most did not have their housing prepared. The needs mentioned were: physical, psychological/emotional, financial, social, lack of availability. They mentioned emotional coping, family, social and self-care support, training of informal and family/patient caregivers and health care as strategies. Conclusion: The community Nursing focused on community is able to empower informal caregivers with skills that promote the safety and quality of care provided, including them in the care plan, detecting and minimizing any difficulties emerging from the transition of the patient between institutions. The articulation between the Continuing Integrated Care Team and the referral entities is essential for a safe transition of care, with health gains for informal caregivers, patients and families. Keywords: Informal caregiver; Continuity of care; Integration of care, Community Nursing

    Consistent patterns of common species across tropical tree communities

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    Trees structure the Earth’s most biodiverse ecosystem, tropical forests. The vast number of tree species presents a formidable challenge to understanding these forests, including their response to environmental change, as very little is known about most tropical tree species. A focus on the common species may circumvent this challenge. Here we investigate abundance patterns of common tree species using inventory data on 1,003,805 trees with trunk diameters of at least 10 cm across 1,568 locations1,2,3,4,5,6 in closed-canopy, structurally intact old-growth tropical forests in Africa, Amazonia and Southeast Asia. We estimate that 2.2%, 2.2% and 2.3% of species comprise 50% of the tropical trees in these regions, respectively. Extrapolating across all closed-canopy tropical forests, we estimate that just 1,053 species comprise half of Earth’s 800 billion tropical trees with trunk diameters of at least 10 cm. Despite differing biogeographic, climatic and anthropogenic histories7, we find notably consistent patterns of common species and species abundance distributions across the continents. This suggests that fundamental mechanisms of tree community assembly may apply to all tropical forests. Resampling analyses show that the most common species are likely to belong to a manageable list of known species, enabling targeted efforts to understand their ecology. Although they do not detract from the importance of rare species, our results open new opportunities to understand the world’s most diverse forests, including modelling their response to environmental change, by focusing on the common species that constitute the majority of their trees.Publisher PDFPeer reviewe

    PRIMEIRA FASE DA CONSTRUÇÃO DE UM INSTRUMENTO DE AVALIAÇÃO DO PENSAMENTO ESPACIAL DE CRIANÇAS EM IDADE PRÉ-ESCOLAR

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    Spatial reasoning is a set of skills mobilized in different areas of human activity and whose importance in educational curricula, since kindergarten, has been growing during the past decades. This article details the construction and validation process of an instrument which purpose is to analyse the spatial skills of children between 4 and 6 years old. The development of that instrument was led by pedagogical and ethical principles that guide early childhood education. Thus, we defined a set of playful and manipulative challenges, covering different aspects of spatial thinking: topological concepts, laterality, representation of space in a square grid, perspectives, itineraries and maps. For the content validation process, a panel of six experts with training and professional activity linked to kindergarten education, educational technologies and/or mathematics teaching was selected. A content validation form was created to verify the adequacy of each test item, considering i) the concepts to be evaluated; ii) children’s ages and iii) the help provided for its execution. The contribution of the content validation process to the ongoing investigation is considered essential, because it led to some changes on the test content. It also promoted reflection on some contextual and relational aspects to be taken into account when carrying it out, with the aim of improving test’s adequacy to its purpose and ensure an affectively safe environment for children.El razonamiento espacial es un conjunto de habilidades movilizadas en diversas áreas de la actividad humana y cuya importancia en los currículos educativos, desde la infancia, hay aumentado en las últimas décadas. En este artículo se detalla el proceso de construcción y validación de un instrumento para analizar la competencia espacial de niños entre 4 y 6 años. El desarrollo de dicho instrumento estuvo guiado por los principios pedagógicos y éticos que rigen la educación infantil. Así, se construyó una prueba compuesta por un conjunto de desafíos lúdicos y manipulativos, abarcando distintos aspectos del pensamiento espacial proprios de este grupo etario: conceptos topológicos, lateralidad, representación del espacio en una cuadrícula, perspectivas, itinerarios y mapas. Por la validación de contenido de la prueba se seleccionaron seis expertos con formación y actividad profesional vinculada a la educación infantil, a las tecnologías educativas y/o a la didáctica de las matemáticas. Se ha elaborado ​​un informe de validación de contenido para verificar la adecuación de cada ítem de la prueba, considerando i) los conceptos a evaluar; ii) la edad de los niños y iii) la ayuda propuesta a su ejecución. Se considera que el proceso de validación de contenido hizo un aporte fundamental a la investigación en curso, resultando en la reformulación del contenido de la prueba. También promovió la reflexión sobre algunos aspectos contextuales y relacionales a tener en cuenta en su aplicación, para tornar las pruebas adecuadas a su propósito y garantizar un entorno afectivamente seguro para los niños.O raciocínio espacial consiste num conjunto de competências mobilizadas em diversas áreas da atividade humana e cuja importância nos currículos educativos, desde a infância, tem vindo a ser crescente nas últimas décadas. No presente artigo, detalha-se o processo de construção e validação de um instrumento para analisar a competência espacial de crianças entre os 4 e os 6 anos de idade. O desenvolvimento do referido instrumento foi norteado pelos princípios pedagógicos e éticos que regem a educação pré-escolar, pelo que se construiu uma prova composta por um conjunto de desafios lúdicos e manipulativos, abrangendo diferentes aspetos do pensamento espacial adequados à faixa etária em questão: conceitos topológicos, lateralidade, representação do espaço em quadrículas, perspectivas, itinerários e mapas. Para o processo de validação de conteúdo, foi selecionado um painel de seis peritos com formação e atividade profissional vinculadas à educação de infância, às tecnologias educativas e/ou à didática da matemática. Construiu-se um formulário de validação de conteúdo para verificar a adequação de cada item do teste, considerando i) os conceitos a avaliar; ii) a idade das crianças e iii) a ajuda prevista à sua execução. Considera-se que o processo de validação de conteúdo por peritos deu um contributo essencial para a investigação em curso, tendo resultado na reformulação do conteúdo do teste. Promoveu, também, a reflexão sobre alguns aspetos contextuais e relacionais a ter em atenção na sua aplicação, com o fim de melhorar a adequação de cada desafio ao respetivo objetivo e assegurar um ambiente afetivamente seguro para as crianças

    Mapping density, diversity and species-richness of the Amazon tree flora

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    Using 2.046 botanically-inventoried tree plots across the largest tropical forest on Earth, we mapped tree species-diversity and tree species-richness at 0.1-degree resolution, and investigated drivers for diversity and richness. Using only location, stratified by forest type, as predictor, our spatial model, to the best of our knowledge, provides the most accurate map of tree diversity in Amazonia to date, explaining approximately 70% of the tree diversity and species-richness. Large soil-forest combinations determine a significant percentage of the variation in tree species-richness and tree alpha-diversity in Amazonian forest-plots. We suggest that the size and fragmentation of these systems drive their large-scale diversity patterns and hence local diversity. A model not using location but cumulative water deficit, tree density, and temperature seasonality explains 47% of the tree species-richness in the terra-firme forest in Amazonia. Over large areas across Amazonia, residuals of this relationship are small and poorly spatially structured, suggesting that much of the residual variation may be local. The Guyana Shield area has consistently negative residuals, showing that this area has lower tree species-richness than expected by our models. We provide extensive plot meta-data, including tree density, tree alpha-diversity and tree species-richness results and gridded maps at 0.1-degree resolution

    Efficacy of the Use of Exergames in Promoting the Mental Health of the Elderly: Protocol of a Systematic Review

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    Background: Scientific and technological advancements have significantly impacted our daily lives, and it is not easy to imagine living without their benefits. However, elderly individuals may experience limited access to these resources, impeding their autonomy. To address this, the use of exergames has been proposed to promote the mental health and socialization of older people. This study aims to systematically review the effectiveness of exergames in promoting older people’s mental health and socialization. Methods: The Joanna Briggs Institute’s recommended methodology will be used for a systematic review. Databases relevant to the research topic, such as those regarding gerontologic care, aged rehabilitation, geriatric games, video games, play and playthings, mental health, anxiety, depression, stress, and physiological factors, will be searched for experimental and quasi-experimental studies, as well as randomized studies with and without control groups. Results: The systematic literature review will synthesize findings on the effectiveness of exergames in promoting mental health and socialization in the elderly population. Conclusions: Exergames may have the potential to effectively improve the mental health and socialization of the elderly population. Identifying which exergames are most effective for these purposes is important to inform the provision of healthcare to this population

    Profilaxia pré-exposição ao HIV (PrEP) como estratégia de prevenção combinada e sua eficácia clínica: Uma revisão integrada da Literatura.

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    This study aims to highlight the importance of Pre-Exposure Prophylaxis (PrEP) as an essential part of the combined HIV prevention strategy. To this end, an integrative review was conducted from June to September 2023, with research carried out in the SciELO and PubMed databases, using descriptors such as "PrEP/Pre-Exposure Prophylaxis", "HIV", "profilaxis/prophylaxis" and "effectiveness." The initial search resulted in 42 articles, which were subsequently subjected to rigorous selection criteria, resulting in the choice of 30 relevant articles. After applying the selection criteria, the 30 selected articles were subjected to a thorough reading by all members of the research team, aiming to collect effectiveness data. Seven large studies that evaluated the effectiveness of PrEP were identified and represented in a unified table, addressing the thematic categories of daily and on-demand pre-exposure prophylaxis. This made these studies easier to view and understand, providing a comprehensive view of PrEP effectiveness in different contexts. In summary, PrEP represents a significant advance in HIV prevention and plays a fundamental role in the fight against the epidemic. However, your success is intrinsically linked to awareness, education and ongoing support. Furthermore, PrEP must be integrated with other prevention strategies to optimize its impact in reducing the spread of HIV. The challenge now lies in ensuring equitable and effective access to PrEP, especially for vulnerable populations, in order to achieve goals related to ending the HIV epidemic. Consequently, PrEP plays a crucial role in the evolution of HIV prevention and the search for a future free from this epidemic.Este estudo tem como objetivo destacar a importância da Profilaxia Pré-Exposição (PrEP) como parte essencial da estratégia de prevenção combinada do HIV. Para isso, foi conduzida uma revisão integrativa no período de junho a setembro de 2023, com pesquisa realizada nas bases de dados SciELO e PubMed, utilizando descritores como "PrEP/Pre-Exposure Prophylaxis", "HIV", "profilaxia/ Prophylaxis" e "eficácia/effectiveness". A pesquisa inicial resultou em 42 artigos, que foram posteriormente submetidos a critérios de seleção rigorosos, resultando na escolha de 30 artigos relevantes. Após a aplicação dos critérios de seleção, os 30 artigos selecionados foram submetidos a uma leitura minuciosa por todos os membros da equipe de pesquisa, visando a coleta de dados de eficácia. Sete grandes estudos que avaliaram a eficácia da PrEP foram identificados e representados em uma tabela unificada, abordando as categorias temáticas de profilaxia pré-exposição de uso diário e sob demanda. Isso facilitou a visualização e compreensão desses estudos, fornecendo uma visão abrangente da eficácia da PrEP em diferentes contextos. Em resumo, a PrEP representa um avanço significativo na prevenção do HIV e desempenha um papel fundamental na luta contra a epidemia. No entanto, seu sucesso está intrinsecamente ligado à conscientização, educação e apoio contínuo. Além disso, a PrEP deve ser integrada a outras estratégias de prevenção para otimizar seu impacto na redução da disseminação do HIV. O desafio agora reside em garantir um acesso equitativo e eficaz à PrEP, especialmente para populações vulneráveis, a fim de alcançar as metas relacionadas ao término da epidemia de HIV. Consequentemente, a PrEP desempenha um papel crucial na evolução da prevenção do HIV e na busca por um futuro livre dessa epidemia

    Tropical forest loss and geographic location drive the functional genomic diversity of an endangered palm tree

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    Abstract Human activity has diminished forests in different terrestrial ecosystems. This is well illustrated in the Brazilian Atlantic Forest, which still hosts high levels of species richness and endemism, even with only 28% of its original extent remaining. The consequences of such forest loss in remaining populations can be investigated with several approaches, including the genomic perspective, which allows a broader understanding of how human disturbance influences the genetic variability in natural populations. In this context, our study investigated the genomic responses of Euterpe edulis Martius, an endangered palm tree, in forest remnants located in landscapes presenting different forest cover amount and composed by distinct bird assemblage that disperse its seeds. We sampled 22 areas of the Brazilian Atlantic Forest in four regions using SNP markers inserted into transcribed regions of the genome of E. edulis, distinguishing neutral loci from those putatively under natural selection (outlier). We demonstrate that populations show patterns of structure and genetic variability that differ between regions, as a possible reflection of deforestation and biogeographic histories. Deforested landscapes still maintain high neutral genetic diversity due to gene flow over short distances. Overall, we not only support previous evidence with microsatellite markers, but also show that deforestation can influence the genetic variability outlier, in the scenario of selective pressures imposed by these stressful environments. Based on our findings, we suggest that, to protect genetic diversity in the long term, it is necessary to reforest and enrich deforested areas, using seeds from populations in the same management target region

    Deliverable 8.1. Risk Assessment Report

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    This report is a short recounting of the risks expected to be encountered in the Project CO2NSTRUCT</p
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