26 research outputs found

    Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease

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    Recently, several genome-wide association studies (GWASs) have led to the discovery of nine new loci of genetic susceptibility in Alzheimer's disease (AD). However, the landscape of the AD genetic susceptibility is far away to be complete and in addition to single-SNP (single-nucleotide polymorphism) analyses as performed in conventional GWAS, complementary strategies need to be applied to overcome limitations inherent to this type of approaches. We performed a genome-wide haplotype association (GWHA) study in the EADI1 study (n=2025 AD cases and 5328 controls) by applying a sliding-windows approach. After exclusion of loci already known to be involved in AD (APOE, BIN1 and CR1), 91 regions with suggestive haplotype effects were identified. In a second step, we attempted to replicate the best suggestive haplotype associations in the GERAD1 consortium (2820 AD cases and 6356 controls) and observed that 9 of them showed nominal association. In a third step, we tested relevant haplotype associations in a combined analysis of five additional case-control studies (5093 AD cases and 4061 controls). We consistently replicated the association of a haplotype within FRMD4A on Chr.10p13 in all the data set analyzed (OR: 1.68; 95% CI: (1.43-1.96); P=1.1 × 10 -10). We finally searched for association between SNPs within the FRMD4A locus and Aβ plasma concentrations in three independent non-demented populations (n=2579). We reported that polymorphisms were associated with plasma Aβ42/Aβ40 ratio (best signal, P=5.4 × 10 -7). In conclusion, combining both GWHA study and a conservative three-stage replication approach, we characterised FRMD4A as a new genetic risk factor of AD

    Repositioning of the global epicentre of non-optimal cholesterol

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    High blood cholesterol is typically considered a feature of wealthy western countries1,2. However, dietary and behavioural determinants of blood cholesterol are changing rapidly throughout the world3 and countries are using lipid-lowering medications at varying rates. These changes can have distinct effects on the levels of high-density lipoprotein (HDL) cholesterol and non-HDL cholesterol, which have different effects on human health4,5. However, the trends of HDL and non-HDL cholesterol levels over time have not been previously reported in a global analysis. Here we pooled 1,127 population-based studies that measured blood lipids in 102.6 million individuals aged 18 years and older to estimate trends from 1980 to 2018 in mean total, non-HDL and HDL cholesterol levels for 200 countries. Globally, there was little change in total or non-HDL cholesterol from 1980 to 2018. This was a net effect of increases in low- and middle-income countries, especially in east and southeast Asia, and decreases in high-income western countries, especially those in northwestern Europe, and in central and eastern Europe. As a result, countries with the highest level of non-HDL cholesterol—which is a marker of cardiovascular risk—changed from those in western Europe such as Belgium, Finland, Greenland, Iceland, Norway, Sweden, Switzerland and Malta in 1980 to those in Asia and the Pacific, such as Tokelau, Malaysia, The Philippines and Thailand. In 2017, high non-HDL cholesterol was responsible for an estimated 3.9 million (95% credible interval 3.7 million–4.2 million) worldwide deaths, half of which occurred in east, southeast and south Asia. The global repositioning of lipid-related risk, with non-optimal cholesterol shifting from a distinct feature of high-income countries in northwestern Europe, north America and Australasia to one that affects countries in east and southeast Asia and Oceania should motivate the use of population-based policies and personal interventions to improve nutrition and enhance access to treatment throughout the world.</p

    Rising rural body-mass index is the main driver of the global obesity epidemic in adults

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    Body-mass index (BMI) has increased steadily in most countries in parallel with a rise in the proportion of the population who live in cities 1,2 . This has led to a widely reported view that urbanization is one of the most important drivers of the global rise in obesity 3�6 . Here we use 2,009 population-based studies, with measurements of height and weight in more than 112 million adults, to report national, regional and global trends in mean BMI segregated by place of residence (a rural or urban area) from 1985 to 2017. We show that, contrary to the dominant paradigm, more than 55 of the global rise in mean BMI from 1985 to 2017�and more than 80 in some low- and middle-income regions�was due to increases in BMI in rural areas. This large contribution stems from the fact that, with the exception of women in sub-Saharan Africa, BMI is increasing at the same rate or faster in rural areas than in cities in low- and middle-income regions. These trends have in turn resulted in a closing�and in some countries reversal�of the gap in BMI between urban and rural areas in low- and middle-income countries, especially for women. In high-income and industrialized countries, we noted a persistently higher rural BMI, especially for women. There is an urgent need for an integrated approach to rural nutrition that enhances financial and physical access to healthy foods, to avoid replacing the rural undernutrition disadvantage in poor countries with a more general malnutrition disadvantage that entails excessive consumption of low-quality calories. © 2019, The Author(s)

    A century of trends in adult human height

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    Being taller is associated with enhanced longevity, and higher education and earnings. We reanalysed 1472 population-based studies, with measurement of height on more than 18.6 million participants to estimate mean height for people born between 1896 and 1996 in 200 countries. The largest gain in adult height over the past century has occurred in South Korean women and Iranian men, who became 20.2 cm (95% credible interval 17.5-22.7) and 16.5 cm (13.3-19.7) taller, respectively. In contrast, there was little change in adult height in some sub-Saharan African countries and in South Asia over the century of analysis. The tallest people over these 100 years are men born in the Netherlands in the last quarter of 20th century, whose average heights surpassed 182.5 cm, and the shortest were women born in Guatemala in 1896 (140.3 cm; 135.8-144.8). The height differential between the tallest and shortest populations was 19-20 cm a century ago, and has remained the same for women and increased for men a century later despite substantial changes in the ranking of countries

    Repositioning of the global epicentre of non-optimal cholesterol

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    High blood cholesterol is typically considered a feature of wealthy western countries1,2. However, dietary and behavioural determinants of blood cholesterol are changing rapidly throughout the world3 and countries are using lipid-lowering medications at varying rates. These changes can have distinct effects on the levels of high-density lipoprotein (HDL) cholesterol and non-HDL cholesterol, which have different effects on human health4,5. However, the trends of HDL and non-HDL cholesterol levels over time have not been previously reported in a global analysis. Here we pooled 1,127 population-based studies that measured blood lipids in 102.6 million individuals aged 18 years and older to estimate trends from 1980 to 2018 in mean total, non-HDL and HDL cholesterol levels for 200 countries. Globally, there was little change in total or non-HDL cholesterol from 1980 to 2018. This was a net effect of increases in low- and middle-income countries, especially in east and southeast Asia, and decreases in high-income western countries, especially those in northwestern Europe, and in central and eastern Europe. As a result, countries with the highest level of non-HDL cholesterol�which is a marker of cardiovascular risk�changed from those in western Europe such as Belgium, Finland, Greenland, Iceland, Norway, Sweden, Switzerland and Malta in 1980 to those in Asia and the Pacific, such as Tokelau, Malaysia, The Philippines and Thailand. In 2017, high non-HDL cholesterol was responsible for an estimated 3.9 million (95 credible interval 3.7 million�4.2 million) worldwide deaths, half of which occurred in east, southeast and south Asia. The global repositioning of lipid-related risk, with non-optimal cholesterol shifting from a distinct feature of high-income countries in northwestern Europe, north America and Australasia to one that affects countries in east and southeast Asia and Oceania should motivate the use of population-based policies and personal interventions to improve nutrition and enhance access to treatment throughout the world. © 2020, The Author(s), under exclusive licence to Springer Nature Limited

    S-Wave Velocities of the Lithosphere\u2013Asthenosphere System in the Caribbean Region

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    An overview of the S-wave velocity (Vs) structural model of the Caribbean with a resolution of 2\ub0 9 2\ub0 is presented. New tomographic maps of Rayleigh wave group velocity disper- sion at periods ranging from 10 to 40 s were obtained as a result of the frequency time analysis of seismic signals of more than 400 ray-paths in the region. For each cell of 2\ub0 9 2\ub0, group velocity dispersion curves were determined and extended to 150 s by adding data from a larger scale tomographic study (VDOVIN et al., Geo- phys. J. Int 136:324\u2013340, 1999). Using, as independent a priori information, the available geological and geophysical data of the region, each dispersion curve has been inverted by the \u2018\u2018hedgehog\u2019\u2019 non-linear procedure (VALYUS, Determining seismic profiles from a set of observations (in Russian), Vychislitielnaya Seismologiya 4, 3\u201314. English translation: Computational Seismology (V.I. Keylis- Borok, ed.) 4:114\u2013118, 1968), in order to compute a set of Vs versus depth models up to 300 km of depth. Because of the non- uniqueness of the solutions for each cell, a local smoothness optimization has been applied to the whole region in order to choose a three-dimensional model of Vs, satisfying this way the Occam\u2019s razor concept. Several known and some new main fea- tures of the Caribbean lithosphere and asthenosphere are shown on these models such as: the west directed subduction zone of the eastern Caribbean region with a clear mantle wedge between the Caribbean lithosphere and the subducted slab; the complex and asymmetric behavior of the crustal and lithospheric thickness in the Cayman ridge; the predominant oceanic crust in the region; the presence of continental type crust in Central America, and the South and North America plates; as well as the fact that the bottom of the upper asthenosphere gets shallower going from west to east

    Anatomy, histochemistry and ultrastructure of seed and somatic embryo of Acrocomia aculeata (Arecaceae)

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    Macaw palm (Acrocomia aculeata (Jacq.) Lodd. ex Mart.) is a tropical species with multiple uses, including oil supply for biodiesel production. However, structural and physiological studies of the seed are still scarce, as well as in vitro propagation techniques. The aim of this study was to characterize the anatomy, histochemistry and ultrastructure of the seed and the in vitro somatic embryo of A. aculeata, gaining insight into relationships between the post-harvest seed behavior and the somatic embryo conversion to plant. The zygotic embryo and the endosperm show high quantities of protein and lipids, stored in protein and lipid bodies, respectively. The cell wall storage polysaccharides occur in the thickened cell wall of the endosperm. The absence of vacuoles and the few organelles, except for the storage ones, indicate low metabolic state of the zygotic embryo, which suggests a orthodox behavior of the seed at maturity. The somatic embryo shows a shoot meristem with few leaf primordia, vacuolated cells and, occasionally, amyloplasts , but not lipid or protein reserves. These characteristics, common in somatic embryogenesis, could be associated with the maturation phase, and, consequently, with the low conversion of these embryos into plants.A macaúba (Acrocomia aculeata (Jacq.) Lodd. ex Mart.) é uma espécie tropical com múltiplos usos, incluindo a geração de óleo para a produção de biodiesel. Entretanto, estudos estruturais e fisiológicos da semente ainda são escassos, assim como as técnicas de propagação in vitro. Caracterizaram-se a anatomia, a histoquímica e ultraestrutura da semente e do embrião somático de A. aculeata obtido in vitro, visando a obter relações entre o comportamento pós-colheita da semente e a conversão em planta a partir do embrião somático. O embrião zigótico e o endosperma apresentam alta quantidade de proteínas e lipídios, estocados em corpos protéicos e lipídicos, respectivamente. Os polissacarídeos de reserva da parede celular estão presentes nas paredes celulares espessadas do endosperma. A ausência de vacúolos e as poucas organelas visualizadas, exceto as organelas de reserva, indicam baixo estado metabólico do embrião zigótico, o que sugere comportamento ortodoxo da semente madura. O embrião somático apresenta meristema apical com poucos primórdios foliares, células com vacúolos conspícuos e, ocasionalmente, amiloplastos, mas não há reservas protéicas ou lipídicas. Essas características, comuns na embriogênese somática, podem estar associadas à fase de maturação dos embriões e, consequentemente, com a baixa conversão desses embriões em plantas

    A VISITA PRÉ-OPERATÓRIA DE ENFERMAGEM PELA ENFERMEIRA DO CENTRO CIRÚRGICO

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    Este trabalho teve por finalidade verificar o número de hospitais com enfermeiras de centro cirúrgico, em São Paulo, que realizam a visita pré-operatória de enfermagem, procedimento este indispensável para assegurar ao paciente assistência contínua e centrada em suas necessidades. Os resultados mostraram que a maioria das enfermeiras, embora tendo conhecimento da importância desse procedimento, não o realizam.The objective of this survey is to verify how many São Paulo hospitals which employ operating room nurses, proceed in having pre-operative nursing assessment of patients. This procedure is essencial to assure a continuous nursing assistance and basic to patient-needs centered nursing care. Results found show that the majority of nurses although knowing about the importance of the procedure, do not implement it
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