Impacts on water, soil and plants from the abandoned Miguel Vacas copper mine, Portugal

Soil, water and plant geochemistry was studied around the Miguel Vacas copper mine (Alentejo, SE Portugal), which stopped its exploitation and processing activities in 1991. After closure waste-rock piles remained exposed to weathering. The copper ore was mainly composed of copper phosphates and carbonates. Remediation actions were insufficient to prevent the spreading of waste-rock materials to surrounding farmed fields. The latter caused contamination of soils and water. Based on overall characteristics water from wells and surface stream water mostly can be classified as of the sulphate magnesium type. The application of a chemical equilibrium model to the sampled water showed that copper, phosphate and sulphate concentrations are controlled by copper(II) secondary minerals (pseudomalachite, libethenite and malachite) and gypsum. Nevertheless, groundwater can be used for irrigation and cattle based on quality parameters. Soils and plants (Prunus domestica L., Olea europaea L. spp. europaea and Quercus ilex L.) were collected southeast of the open pit and the exploitation substructures. The soils located in the influence of drainage water that percolated through waste material or exploitation substructures were contaminated with Cu, and Ni was close to the maximum value allowed by Portuguese legislation. These soils, however, did not show elevated Zn and Mn concentrations. The trace element content in plants was within the normal range, with Q. ilex being able to accumulate Mn and to some extent also Ni. Dispersion of trace elements seemed to be limited to a distance 1500 m down from the waste dumps in southeastern direction

Possibilidades da "previsão" da argila (<0.002mm) pelo método do areómetro

info:eu-repo/semantics/publishedVersio

A whole genome screen for association with multiple sclerosis in portuguese patients

Multiple sclerosis (MS) is common in Europe affecting up to 1:500 people. In an effort to identify genes influencing susceptibility to the disease, we have performed a population-based whole genome screen for association. In this study, 6000 microsatellite markers were typed in separately pooled DNA samples from MS patients (n = 188) and matched controls (n = 188). Interpretable data was obtained from 4661 of these markers. Refining analysis of the most promising markers identified 10 showing potential evidence for association.SERONO (Portugal).Fundação para a Ciência e a Tecnologia (FCT) - grant FRH/BD/9111/2002.British Council/ICCTI.Wellcome Trust, Multiple Sclerosis Societies of the United States and Great Britain, Multiple Sclerosis International Federation - GAMES project - grant 057097

Global, regional, and national comparative risk assessment of 79 behavioural, environmental and occupational, and metabolic risks or clusters of risks, 1990-2015: A systematic analysis for the Global Burden of Disease Study 2015

Background: The Global Burden of Diseases, Injuries, and Risk Factors Study 2015 provides an up-to-date synthesis of the evidence for risk factor exposure and the attributable burden of disease. By providing national and subnational assessments spanning the past 25 years, this study can inform debates on the importance of addressing risks in context. Methods: We used the comparative risk assessment framework developed for previous iterations of the Global Burden of Disease Study to estimate attributable deaths, disability-adjusted life-years (DALYs), and trends in exposure by age group, sex, year, and geography for 79 behavioural, environmental and occupational, and metabolic risks or clusters of risks from 1990 to 2015. This study included 388 risk-outcome pairs that met World Cancer Research Fund-defined criteria for convincing or probable evidence. We extracted relative risk and exposure estimates from randomised controlled trials, cohorts, pooled cohorts, household surveys, census data, satellite data, and other sources. We used statistical models to pool data, adjust for bias, and incorporate covariates. We developed a metric that allows comparisons of exposure across risk factors—the summary exposure value. Using the counterfactual scenario of theoretical minimum risk level, we estimated the portion of deaths and DALYs that could be attributed to a given risk. We decomposed trends in attributable burden into contributions from population growth, population age structure, risk exposure, and risk-deleted cause-specific DALY rates. We characterised risk exposure in relation to a Socio-demographic Index (SDI). Findings: Between 1990 and 2015, global exposure to unsafe sanitation, household air pollution, childhood underweight, childhood stunting, and smoking each decreased by more than 25%. Global exposure for several occupational risks, high body-mass index (BMI), and drug use increased by more than 25% over the same period. All risks jointly evaluated in 2015 accounted for 57·8% (95% CI 56·6–58·8) of global deaths and 41·2% (39·8–42·8) of DALYs. In 2015, the ten largest contributors to global DALYs among Level 3 risks were high systolic blood pressure (211·8 million [192·7 million to 231·1 million] global DALYs), smoking (148·6 million [134·2 million to 163·1 million]), high fasting plasma glucose (143·1 million [125·1 million to 163·5 million]), high BMI (120·1 million [83·8 million to 158·4 million]), childhood undernutrition (113·3 million [103·9 million to 123·4 million]), ambient particulate matter (103·1 million [90·8 million to 115·1 million]), high total cholesterol (88·7 million [74·6 million to 105·7 million]), household air pollution (85·6 million [66·7 million to 106·1 million]), alcohol use (85·0 million [77·2 million to 93·0 million]), and diets high in sodium (83·0 million [49·3 million to 127·5 million]). From 1990 to 2015, attributable DALYs declined for micronutrient deficiencies, childhood undernutrition, unsafe sanitation and water, and household air pollution; reductions in risk-deleted DALY rates rather than reductions in exposure drove these declines. Rising exposure contributed to notable increases in attributable DALYs from high BMI, high fasting plasma glucose, occupational carcinogens, and drug use. Environmental risks and childhood undernutrition declined steadily with SDI; low physical activity, high BMI, and high fasting plasma glucose increased with SDI. In 119 countries, metabolic risks, such as high BMI and fasting plasma glucose, contributed the most attributable DALYs in 2015. Regionally, smoking still ranked among the leading five risk factors for attributable DALYs in 109 countries; childhood underweight and unsafe sex remained primary drivers of early death and disability in much of sub-Saharan Africa. Interpretation: Declines in some key environmental risks have contributed to declines in critical infectious diseases. Some risks appear to be invariant to SDI. Increasing risks, including high BMI, high fasting plasma glucose, drug use, and some occupational exposures, contribute to rising burden from some conditions, but also provide opportunities for intervention. Some highly preventable risks, such as smoking, remain major causes of attributable DALYs, even as exposure is declining. Public policy makers need to pay attention to the risks that are increasingly major contributors to global burden. Funding: Bill & Melinda Gates Foundation

Potencialidades do Pinus pinaster e Cytisus multiflorus na fitoestabilização de escombreiras na mina de ouro de Santo António (Penedono) Potencialities of Pinus pinaster and Cytisus multiflorus on the phytostabilization of the Santo António (Penedono) gold mine dumps

A mina de Santo António, localizada a cerca de 10 km ao norte de Penedono (Viseu), foi um importante centro mineiro, tendo-se aí principalmente explorado o ouro e outros elementos químicos, como o arsénio. Actualmente, todo o complexo mineiro está abandonado e bastante degradado. As escombreiras, cortadas por dois barrancos de grande dimensão, estão sujeitas a intensa erosão eólica e hídrica. Estas apresentam teores totais elevados para vários elementos, dos quais se destacam As, Pb, Cd e Au que atingem, respectivamente, 40 000, 653, 14 e 9,8 mg kg-1 . Estudou-se na área mineira, e em particular na envolvente das escombreiras, os solos e as plantas aí desenvolvidas (Pinus pinaster, Quercus pyrenaica, Castanea sativa, Cytisus multiflorus e uma gramínea do género Agrostis). As águas de drenagem da escombreira não vegetalizada apresentavam valores de pH de 2,58 e teores de As e Cd respectivamente de 160 e 0,05 mg/L. As águas recolhidas a jusante de escombreiras vegetalizadas com pinheiros e giestas, mostraram um decréscimo drástico de todos os elementos, em especial do As que ocorria com valores ambientalmente aceitáveis (<0,1 mg/L). O pH dos solos varia entre 2,9 e 5,3. O arsénio nos solos próximos das escombreiras pode atingir valores de 23900 e 220 mg kg-1 respectivamente para os totais e disponíveis. A fracção disponível de Al e Cu atinge também valores elevados, respectivamente 32,9 e 55,4 mg kg-1, enquanto que os teores de Pb disponível são relativamente baixos quando comparados com os totais. As plantas colhidas nos solos adjacentes às escombreiras são bastante tolerantes aos elementos metálicos pois não manifestam sintomas visuais de toxicidade. O P. pinaster, o C. multiflorus e a gramínea apresentam teores elevados de As, Al e Pb na parte aérea, que são superiores aos das outras espécies. Estas espécies apresentam, no entanto, bom desenvolvimento vegetativo e boa cobertura do solo, minimizando assim a erosão hídrica e eólica. Por esta razão, a fitoestabilização das escombreiras desta mina pode ser efectuada por plantas autóctones do estrato arbóreo (Pinus pinaster), arbustivo (Cytisus multiflorus) e herbáceo (gramíneas do gén. Agrostis) que absorvem e translocam para a parte aérea teores relativamente elevados de As, reduzindo a sua lixiviação.<br>The Santo António mine is located 10 km north of Penedono (Viseu, Portugal). This mine was in the first half of the twenty’s century an important gold and arsenic mining centre. Nowadays the mining complex is abandoned and presents high level of physical degradation. The waste dumps crossed by two large gullies are under strong water and wind erosion. The total concentrations of As, Pb, Cd e Au, in the dump material reached values as high as 40 000, 653, 14 and 9,8 mg kg-1, respectively. Soils and native plants as Pinus pinaster, Quercus pyrenaica, Castanea sativa, Cytisus multiflorus and gramineous plants (gen. Agrostis) from the mining area and the waste dumps surroundings were collect and analysed. The draining waters from a no vegetated dump presented a pH value of 2.58, and As and Cd concentrations of 160 and 0.05 mg/L, respectively. On the other hand, the draining waters from vegetated dumps with P. pinaster and C. multiflorus showed much lower levels for the concentrations of all analysed elements, particularly As that presented environmentally acceptable concentrations (<0,1 mg/L). Soil pH is between 2.9 and 5.3. Arsenic total and available concentrations in the soils surrounding the waste dumps were as high as 23900 and 220 mg kg-1, respectively. Aluminium and Cu concentrations in the available fractions were, respectively, 32.9 e 55.4 mg kg-1. However, Pb concentrations were quite low in the available fractions when compared with the total concentrations in the soils. Plants growing on the dump adjacent soils are metal tolerant without any visible symptoms of toxicity. P. pinaster, C. multiflorus and Agrostis gramineous plants showed higher levels for As, Al, and Pb in the aerial part when compared with other species. Nevertheless, these species show a good vegetative development and soil coverage, which minimises the wind and water erosion. For this reason, the phytostabilization of Santo António waste dumps can be undertaken by native plants as P. pinaster trees, C. multiflorus shrubs and gramineous plants (Agrostis), which absorb and translocate to the aerial part high levels of As, thus decreasing the amounts lixiviated

Heterozygous variants in SPTBN1 cause intellectual disability and autism

Spectrins are common components of cytoskeletons, binding to cytoskeletal elements and the plasma membrane, allowing proper localization of essential membrane proteins, signal transduction, and cellular scaffolding. Spectrins are assembled from alpha and beta subunits, encoded by SPTA1 and SPTAN1 (alpha) and SPTB, SPTBN1, SPTBN2, SPTBN4, and SPTBN5 (beta). Pathogenic variants in various spectrin genes are associated with erythroid cell disorders (SPTA1, SPTB) and neurologic disorders (SPTAN1, SPTBN2, and SPTBN4), but no phenotypes have been definitively associated with variants in SPTBN1 or SPTBN5. Through exome sequencing and case matching, we identified seven unrelated individuals with heterozygous SPTBN1 variants: two with de novo missense variants and five with predicted loss-of-function variants (found to be de novo in two, while one was inherited from a mother with a history of learning disabilities). Common features include global developmental delays, intellectual disability, and behavioral disturbances. Autistic features (4/6) and epilepsy (2/7) or abnormal electroencephalogram without overt seizures (1/7) were present in a subset. Identification of loss-of-function variants suggests a haploinsufficiency mechanism, but additional functional studies are required to fully elucidate disease pathogenesis. Our findings support the essential roles of SPTBN1 in human neurodevelopment and expand the knowledge of human spectrinopathy disorders.Genetics of disease, diagnosis and treatmen

Zwilch, a New Component of the ZW10/ROD Complex Required for Kinetochore Functions

The Zeste-White 10 (ZW10) and Rough Deal (ROD) proteins are part of a complex necessary for accurate chromosome segregation. This complex recruits cytoplasmic dynein to the kinetochore and participates in the spindle checkpoint. We used immunoaffinity chromatography and mass spectroscopy to identify the Drosophila proteins in this complex. We found that the complex contains an additional protein we name Zwilch. Zwilch localizes to kinetochores and kinetochore microtubules in a manner identical to ZW10 and ROD. We have also isolated a zwilch mutant, which exhibits the same mitotic phenotypes associated with zw10 and rod mutations: lagging chromosomes at anaphase and precocious sister chromatid separation upon activation of the spindle checkpoint. Zwilch's role within the context of this complex is evolutionarily conserved. The human Zwilch protein (hZwilch) coimmunoprecipitates with hZW10 and hROD from HeLa cell extracts and localizes to the kinetochores at prometaphase. Finally, we discuss immunoaffinity chromatography results that suggest the existence of a weak interaction between the ZW10/ROD/Zwilch complex and the kinesin-like kinetochore component CENP-meta

Global, regional, and national comparative risk assessment of 79 behavioural, environmental and occupational, and metabolic risks or clusters of risks in 188 countries, 1990-2013: A systematic analysis for the Global Burden of Disease Study 2013

Background: The Global Burden of Disease, Injuries, and Risk Factor study 2013 (GBD 2013) is the first of a series of annual updates of the GBD. Risk factor quantification, particularly of modifiable risk factors, can help to identify emerging threats to population health and opportunities for prevention. The GBD 2013 provides a timely opportunity to update the comparative risk assessment with new data for exposure, relative risks, and evidence on the appropriate counterfactual risk distribution. Methods: Attributable deaths, years of life lost, years lived with disability, and disability-adjusted life-years (DALYs) have been estimated for 79 risks or clusters of risks using the GBD 2010 methods. Risk-outcome pairs meeting explicit evidence criteria were assessed for 188 countries for the period 1990-2013 by age and sex using three inputs: risk exposure, relative risks, and the theoretical minimum risk exposure level (TMREL). Risks are organised into a hierarchy with blocks of behavioural, environmental and occupational, and metabolic risks at the first level of the hierarchy. The next level in the hierarchy includes nine clusters of related risks and two individual risks, with more detail provided at levels 3 and 4 of the hierarchy. Compared with GBD 2010, six new risk factors have been added: handwashing practices, occupational exposure to trichloroethylene, childhood wasting, childhood stunting, unsafe sex, and low glomerular filtration rate. For most risks, data for exposure were synthesised with a Bayesian metaregression method, DisMod-MR 2.0, or spatial-temporal Gaussian process regression. Relative risks were based on meta-regressions of published cohort and intervention studies. Attributable burden for clusters of risks and all risks combined took into account evidence on the mediation of some risks such as high body-mass index (BMI) through other risks such as high systolic blood pressure and high cholesterol. Findings: All risks combined account for 57·2 (95 uncertainty interval UI 55·8-58·5) of deaths and 41·6% (40·1-43·0) of DALYs. Risks quantified account for 87·9% (86·5-89·3) of cardiovascular disease DALYs, ranging to a low of 0% for neonatal disorders and neglected tropical diseases and malaria. In terms of global DALYs in 2013, six risks or clusters of risks each caused more than 5% of DALYs: dietary risks accounting for 11·3 million deaths and 241·4 million DALYs, high systolic blood pressure for 10·4 million deaths and 208·1 million DALYs, child and maternal malnutrition for 1·7 million deaths and 176·9 million DALYs, tobacco smoke for 6·1 million deaths and 143·5 million DALYs, air pollution for 5·5 million deaths and 141·5 million DALYs, and high BMI for 4·4 million deaths and 134·0 million DALYs. Risk factor patterns vary across regions and countries and with time. In sub-Saharan Africa, the leading risk factors are child and maternal malnutrition, unsafe sex, and unsafe water, sanitation, and handwashing. In women, in nearly all countries in the Americas, north Africa, and the Middle East, and in many other high-income countries, high BMI is the leading risk factor, with high systolic blood pressure as the leading risk in most of Central and Eastern Europe and south and east Asia. For men, high systolic blood pressure or tobacco use are the leading risks in nearly all high-income countries, in north Africa and the Middle East, Europe, and Asia. For men and women, unsafe sex is the leading risk in a corridor from Kenya to South Africa. Interpretation: Behavioural, environmental and occupational, and metabolic risks can explain half of global mortality and more than one-third of global DALYs providing many opportunities for prevention. Of the larger risks, the attributable burden of high BMI has increased in the past 23 years. In view of the prominence of behavioural risk factors, behavioural and social science research on interventions for these risks should be strengthened. Many prevention and primary care policy options are available now to act on key risks

Global, regional, and national comparative risk assessment of 79 behavioural, environmental and occupational, and metabolic risks or clusters of risks in 188 countries, 1990-2013: A systematic analysis for the Global Burden of Disease Study 2013

Background: The Global Burden of Disease, Injuries, and Risk Factor study 2013 (GBD 2013) is the first of a series of annual updates of the GBD. Risk factor quantification, particularly of modifiable risk factors, can help to identify emerging threats to population health and opportunities for prevention. The GBD 2013 provides a timely opportunity to update the comparative risk assessment with new data for exposure, relative risks, and evidence on the appropriate counterfactual risk distribution. Methods: Attributable deaths, years of life lost, years lived with disability, and disability-adjusted life-years (DALYs) have been estimated for 79 risks or clusters of risks using the GBD 2010 methods. Risk-outcome pairs meeting explicit evidence criteria were assessed for 188 countries for the period 1990-2013 by age and sex using three inputs: risk exposure, relative risks, and the theoretical minimum risk exposure level (TMREL). Risks are organised into a hierarchy with blocks of behavioural, environmental and occupational, and metabolic risks at the first level of the hierarchy. The next level in the hierarchy includes nine clusters of related risks and two individual risks, with more detail provided at levels 3 and 4 of the hierarchy. Compared with GBD 2010, six new risk factors have been added: handwashing practices, occupational exposure to trichloroethylene, childhood wasting, childhood stunting, unsafe sex, and low glomerular filtration rate. For most risks, data for exposure were synthesised with a Bayesian metaregression method, DisMod-MR 2.0, or spatial-temporal Gaussian process regression. Relative risks were based on meta-regressions of published cohort and intervention studies. Attributable burden for clusters of risks and all risks combined took into account evidence on the mediation of some risks such as high body-mass index (BMI) through other risks such as high systolic blood pressure and high cholesterol. Findings: All risks combined account for 57·2 (95 uncertainty interval UI 55·8-58·5) of deaths and 41·6% (40·1-43·0) of DALYs. Risks quantified account for 87·9% (86·5-89·3) of cardiovascular disease DALYs, ranging to a low of 0% for neonatal disorders and neglected tropical diseases and malaria. In terms of global DALYs in 2013, six risks or clusters of risks each caused more than 5% of DALYs: dietary risks accounting for 11·3 million deaths and 241·4 million DALYs, high systolic blood pressure for 10·4 million deaths and 208·1 million DALYs, child and maternal malnutrition for 1·7 million deaths and 176·9 million DALYs, tobacco smoke for 6·1 million deaths and 143·5 million DALYs, air pollution for 5·5 million deaths and 141·5 million DALYs, and high BMI for 4·4 million deaths and 134·0 million DALYs. Risk factor patterns vary across regions and countries and with time. In sub-Saharan Africa, the leading risk factors are child and maternal malnutrition, unsafe sex, and unsafe water, sanitation, and handwashing. In women, in nearly all countries in the Americas, north Africa, and the Middle East, and in many other high-income countries, high BMI is the leading risk factor, with high systolic blood pressure as the leading risk in most of Central and Eastern Europe and south and east Asia. For men, high systolic blood pressure or tobacco use are the leading risks in nearly all high-income countries, in north Africa and the Middle East, Europe, and Asia. For men and women, unsafe sex is the leading risk in a corridor from Kenya to South Africa. Interpretation: Behavioural, environmental and occupational, and metabolic risks can explain half of global mortality and more than one-third of global DALYs providing many opportunities for prevention. Of the larger risks, the attributable burden of high BMI has increased in the past 23 years. In view of the prominence of behavioural risk factors, behavioural and social science research on interventions for these risks should be strengthened. Many prevention and primary care policy options are available now to act on key risks