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Sökning: WFRF:(Borrell C.)

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1.
  • Mercuri, E., et al. (författare)
  • Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study
  • 2020
  • Ingår i: Journal of Comparative Effectiveness Research. - : Becaris Publishing Limited. - 2042-6305 .- 2042-6313. ; 9:5, s. 341-360
  • Tidskriftsartikel (refereegranskat)abstract
    • Aim: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, multicenter registry providing real-world evidence regarding ataluren use in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). We examined the effectiveness of ataluren + standard of care (SoC) in the registry versus SoC alone in the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS), DMD genotype-phenotype/-ataluren benefit correlations and ataluren safety. Patients & methods: Propensity score matching was performed to identify STRIDE and CINRG DNHS patients who were comparable in established disease progression predictors (registry cut-off date, 9 July 2018). Results & conclusion: Kaplan-Meier analyses demonstrated that ataluren + SoC significantly delayed age at loss of ambulation and age at worsening performance in timed function tests versus SoC alone (p <= 0.05). There were no DMD genotype-phenotype/ataluren benefit correlations. Ataluren was well tolerated. These results indicate that ataluren + SoC delays functional milestones of DMD progression in patients with nmDMD in routine clinical practice. ClinicalTrials.gov identifier: NCT02369731. ClinicalTrials.gov identifier: NCT02369731.
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  • Kehoe, Laura, et al. (författare)
  • Make EU trade with Brazil sustainable
  • 2019
  • Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 364:6438, s. 341-
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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  • Ralimanana, H., et al. (författare)
  • Madagascar’s extraordinary biodiversity: Threats and opportunities
  • 2022
  • Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 378:6623
  • Forskningsöversikt (refereegranskat)abstract
    • Madagascar’s unique biota is heavily affected by human activity and is under intense threat. Here, we review the current state of knowledge on the conservation status of Madagascar’s terrestrial and freshwater biodiversity by presenting data and analyses on documented and predicted species-level conservation statuses, the most prevalent and relevant threats, ex situ collections and programs, and the coverage and comprehensiveness of protected areas. The existing terrestrial protected area network in Madagascar covers 10.4% of its land area and includes at least part of the range of the majority of described native species of vertebrates with known distributions (97.1% of freshwater fishes, amphibians, reptiles, birds, and mammals combined) and plants (67.7%). The overall figures are higher for threatened species (97.7% of threatened vertebrates and 79.6% of threatened plants occurring within at least one protected area). International Union for Conservation of Nature (IUCN) Red List assessments and Bayesian neural network analyses for plants identify overexploitation of biological resources and unsustainable agriculture as the most prominent threats to biodiversity. We highlight five opportunities for action at multiple levels to ensure that conservation and ecological restoration objectives, programs, and activities take account of complex underlying and interacting factors and produce tangible benefits for the biodiversity and people of Madagascar.
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  • Costa, C, et al. (författare)
  • Population Health Inequalities Across and Within European Metropolitan Areas through the Lens of the EURO-HEALTHY Population Health Index
  • 2019
  • Ingår i: International journal of environmental research and public health. - : MDPI AG. - 1660-4601. ; 16:5
  • Tidskriftsartikel (refereegranskat)abstract
    • The different geographical contexts seen in European metropolitan areas are reflected in the uneven distribution of health risk factors for the population. Accumulating evidence on multiple health determinants point to the importance of individual, social, economic, physical and built environment features, which can be shaped by the local authorities. The complexity of measuring health, which at the same time underscores the level of intra-urban inequalities, calls for integrated and multidimensional approaches. The aim of this study is to analyse inequalities in health determinants and health outcomes across and within nine metropolitan areas: Athens, Barcelona, Berlin-Brandenburg, Brussels, Lisbon, London, Prague, Stockholm and Turin. We use the EURO-HEALTHY Population Health Index (PHI), a tool that measures health in two components: Health Determinants and Health Outcomes. The application of this tool revealed important inequalities between metropolitan areas: Better scores were found in Northern cities when compared with their Southern and Eastern counterparts in both components. The analysis of geographical patterns within metropolitan areas showed that there are intra-urban inequalities, and, in most cities, they appear to form spatial clusters. Identifying which urban areas are measurably worse off, in either Health Determinants or Health Outcomes, or both, provides a basis for redirecting local action and for ongoing comparisons with other metropolitan areas.
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  • Kulik, M. C., et al. (författare)
  • Smoking and the potential for reduction of inequalities in mortality in Europe
  • 2013
  • Ingår i: European Journal of Epidemiology. - : Springer Science and Business Media LLC. - 0393-2990 .- 1573-7284. ; 28:12, s. 959-971
  • Tidskriftsartikel (refereegranskat)abstract
    • Socioeconomic inequalities in health and mortality remain a widely recognized problem. Countries with smaller inequalities in smoking have smaller inequalities in mortality, and smoking plays an important part in the explanation of inequalities in some countries. We identify the potential for reducing inequalities in all-cause and smoking-related mortality in 19 European populations, by applying different scenarios of smoking exposure. Smoking prevalence information and mortality data come from 19 European populations. Prevalence rates are mostly taken from National Health Surveys conducted around the year 2000. Mortality rates are based on country-specific longitudinal or cross-sectional datasets. Relative risks come from the Cancer Prevention Study II. Besides all-cause mortality we analyze several smoking-related cancers and chronic obstructive pulmonary disease/asthma. We use a newly-developed tool to quantify the changes in population health potentially resulting from modifying the population distribution of exposure to smoking. This tool is based on the epidemiological measure of the population attributable fraction, and estimates the impact of scenario-based distributions of smoking on educational inequalities in mortality. The potential reduction of relative inequality in all-cause mortality between those with high and low education amounts up to 26 % for men and 32 % for women. More than half of the relative inequality may be reduced for some causes of death, often in countries of Northern Europe and in Britain. Patterns of potential reduction in inequality differ by country or region and sex, suggesting that the priority given to smoking as an entry-point for tackling health inequalities should differ between countries.
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  • Mackenbach, J. P., et al. (författare)
  • Variations in the relation between education and cause-specific mortality in 19 European populations : A test of the "fundamental causes" theory of social inequalities in health
  • 2015
  • Ingår i: Social Science and Medicine. - : Elsevier BV. - 0277-9536 .- 1873-5347. ; 127, s. 51-62
  • Tidskriftsartikel (refereegranskat)abstract
    • Link and Phelan have proposed to explain the persistence of health inequalities from the fact that socioeconomic status is a "fundamental cause" which embodies an array of resources that can be used to avoid disease risks no matter what mechanisms are relevant at any given time. To test this theory we compared the magnitude of inequalities in mortality between more and less preventable causes of death in 19 European populations, and assessed whether inequalities in mortality from preventable causes are larger in countries with larger resource inequalities.We collected and harmonized mortality data by educational level on 19 national and regional populations from 16 European countries in the first decade of the 21st century. We calculated age-adjusted Relative Risks of mortality among men and women aged 30-79 for 24 causes of death, which were classified into four groups: amenable to behavior change, amenable to medical intervention, amenable to injury prevention, and non-preventable.Although an overwhelming majority of Relative Risks indicate higher mortality risks among the lower educated, the strength of the education-mortality relation is highly variable between causes of death and populations. Inequalities in mortality are generally larger for causes amenable to behavior change, medical intervention and injury prevention than for non-preventable causes. The contrast between preventable and non-preventable causes is large for causes amenable to behavior change, but absent for causes amenable to injury prevention among women. The contrast between preventable and non-preventable causes is larger in Central & Eastern Europe, where resource inequalities are substantial, than in the Nordic countries and continental Europe, where resource inequalities are relatively small, but they are absent or small in Southern Europe, where resource inequalities are also large.In conclusion, our results provide some further support for the theory of "fundamental causes". However, the absence of larger inequalities for preventable causes in Southern Europe and for injury mortality among women indicate that further empirical and theoretical analysis is necessary to understand when and why the additional resources that a higher socioeconomic status provides, do and do not protect against prevailing health risks.
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  • Antonelli, Alexandre, 1978, et al. (författare)
  • Madagascar's extraordinary biodiversity : Evolution, distribution, and use
  • 2022
  • Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 378:6623, s. 962-
  • Tidskriftsartikel (refereegranskat)abstract
    • Madagascar's biota is hyperdiverse and includes exceptional levels of endemicity. We review the current state of knowledge on Madagascar's past and current terrestrial and freshwater biodiversity by compiling and presenting comprehensive data on species diversity, endemism, and rates of species description and human uses, in addition to presenting an updated and simplified map of vegetation types. We report a substantial increase of records and species new to science in recent years; however, the diversity and evolution of many groups remain practically unknown (e.g., fungi and most invertebrates). Digitization efforts are increasing the resolution of species richness patterns and we highlight the crucial role of field- and collections-based research for advancing biodiversity knowledge and identifying gaps in our understanding, particularly as species richness corresponds closely to collection effort. Phylogenetic diversity patterns mirror that of species richness and endemism in most of the analyzed groups. We highlight humid forests as centers of diversity and endemism because of their role as refugia and centers of recent and rapid radiations. However, the distinct endemism of other areas, such as the grassland-woodland mosaic of the Central Highlands and the spiny forest of the southwest, is also biologically important despite lower species richness. The documented uses of Malagasy biodiversity are manifold, with much potential for the uncovering of new useful traits for food, medicine, and climate mitigation. The data presented here showcase Madagascar as a unique " living laboratory" for our understanding of evolution and the complex interactions between people and nature. The gathering and analysis of biodiversity data must continue and accelerate if we are to fully understand and safeguard this unique subset of Earth's biodiversity.
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  • Borrell, C, et al. (författare)
  • Socioeconomic inequalities in mortality in 16 European cities
  • 2014
  • Ingår i: Scandinavian journal of public health. - : SAGE Publications. - 1651-1905 .- 1403-4948. ; 42:3, s. 245-254
  • Tidskriftsartikel (refereegranskat)abstract
    • Aims: To explore inequalities in total mortality between small areas of 16 European cities for men and women, as well as to analyse the relationship between these geographical inequalities and their socioeconomic indicators. Methods: A cross-sectional ecological design was used to analyse small areas in 16 European cities (26,229,104 inhabitants). Most cities had mortality data for a period between 2000 and 2008 and population size data for the same period. Socioeconomic indicators included an index of socioeconomic deprivation, unemployment, and educational level. We estimated standardised mortality ratios and controlled for their variability using Bayesian models. We estimated relative risk of mortality and excess number of deaths according to socioeconomic indicators. Results: We observed a consistent pattern of inequality in mortality in almost all cities, with mortality increasing in parallel with socioeconomic deprivation. Socioeconomic inequalities in mortality were more pronounced for men than women, and relative inequalities were greater in Eastern and Northern European cities, and lower in some Western (men) and Southern (women) European cities. The pattern of excess number of deaths was slightly different, with greater inequality in some Western and Northern European cities and also in Budapest, and lower among women in Madrid and Barcelona. Conclusions: In this study, we report a consistent pattern of socioeconomic inequalities in mortality in 16 European cities. Future studies should further explore specific causes of death, in order to determine whether the general pattern observed is consistent for each cause of death.
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  • Cowell, C., et al. (författare)
  • Uses and benefits of digital sequence information from plant genetic resources: Lessons learnt from botanical collections
  • 2022
  • Ingår i: Plants People Planet. - : Wiley. - 2572-2611. ; 4:1, s. 33-43
  • Tidskriftsartikel (refereegranskat)abstract
    • Societal Impact Statement Digitized molecular data are vital to numerous aspects of scientific research and genetic resource use. The Convention on Biological Diversity currently refers to this as "Digital Sequence Information" (DSI), a term not widely adopted by science and lacking a clear definition. There are concerns over the access to genetic resources and absence of benefit sharing by provider countries. Open access to DSI might exacerbate this, which is leading to increasing policy interventions and restricted access to genetic resources and DSI. We analyze current international debate and proposed solutions and provide case studies of DSI use producing tangible benefits for the provider countries and scientific research, demonstrating the importance of open access DSI to achieving conservation goals. Substantial advances in DNA sequencing over the last decades hold great potential to enhance food security and sustainable use of global biodiversity, benefiting the world's poorest people. Digital Sequence Information (DSI) plays a crucial role in catalyzing research applications that can contribute to international societal and biodiversity conservation targets. However, benefit sharing relating to DSI is difficult to identify and hindered by the lack of clear international governance and legislation, which in turn has led to a reluctance to make DSI publicly and freely available. Critically, no precise definition exists under the Convention on Biological Diversity (CBD), the Nagoya Protocol (NP), or the International Treaty for Plant Genetic Resources for Food and Agriculture (ITPGRFA). The key difference between DSI and biological resources, for which access and use are highly regulated under those frameworks, is that information is nonphysical. Information can be replicated and used without movement of, or access to, physical specimens. Thus, regulating the use of DSI is extremely challenging and remains controversial. Here, we review the regulation of DSI and the possible future steps by the international community, in the context of the benefit-sharing obligations of the CBD, NP, and ITPGRFA. We highlight how multilateral agreements work in practice and are a solution to this impasse. We provide case studies demonstrating how the Royal Botanic Gardens, Kew, and its collaborators address the uncertainty surrounding the use of DSI, illustrating tangible and equitable benefits that have arisen from such use. We conclude that open access to DSI is needed for scientific research and international policy.
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  • Herrera-Luis, E, et al. (författare)
  • Admixture mapping of severe asthma exacerbations in Hispanic/Latino children and youth
  • 2023
  • Ingår i: Thorax. - : BMJ. - 1468-3296 .- 0040-6376. ; 78:3, s. 233-241
  • Tidskriftsartikel (refereegranskat)abstract
    • In the USA, genetically admixed populations have the highest asthma prevalence and severe asthma exacerbations rates. This could be explained not only by environmental factors but also by genetic variants that exert ethnic-specific effects. However, no admixture mapping has been performed for severe asthma exacerbations.ObjectiveWe sought to identify genetic variants associated with severe asthma exacerbations in Hispanic/Latino subgroups by means of admixture mapping analyses and fine mapping, and to assess their transferability to other populations and potential functional roles.MethodsWe performed an admixture mapping in 1124 Puerto Rican and 625 Mexican American children with asthma. Fine-mapping of the significant peaks was performed via allelic testing of common and rare variants. We performed replication across Hispanic/Latino subgroups, and the transferability to non-Hispanic/Latino populations was assessed in 1001 African Americans, 1250 Singaporeans and 941 Europeans with asthma. The effects of the variants on gene expression and DNA methylation from whole blood were also evaluated in participants with asthma and in silico with data obtained through public databases.ResultsGenomewide significant associations of Indigenous American ancestry with severe asthma exacerbations were found at 5q32 in Mexican Americans as well as at 13q13-q13.2 and 3p13 in Puerto Ricans. The single nucleotide polymorphism (SNP) rs1144986 (C5orf46) showed consistent effects for severe asthma exacerbations across Hispanic/Latino subgroups, but it was not validated in non-Hispanics/Latinos. This SNP was associated withDPYSL3DNA methylation andSCGB3A2gene expression levels.ConclusionsAdmixture mapping study of asthma exacerbations revealed a novel locus that exhibited Hispanic/Latino-specific effects and regulatedDPYSL3andSCGB3A2.
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  • Marinacci, C, et al. (författare)
  • The Role of Contextual Socioeconomic Circumstances and Neighborhood Poverty Segregation on Mortality in 4 European Cities
  • 2017
  • Ingår i: International journal of health services : planning, administration, evaluation. - : SAGE Publications. - 1541-4469 .- 0020-7314. ; 47:4, s. 636-654
  • Tidskriftsartikel (refereegranskat)abstract
    • Several studies have recognized the health disadvantage of residents in socioeconomically deprived neighborhoods, independent of the influence of individual socioeconomic conditions. The effect of neighborhood socioeconomic deprivation on general mortality has appeared heterogeneous among the cities analyzed: the underlying mechanisms have been less empirically explored, and explanations for this heterogeneous health effect remain unclear. The present study aimed to: (1) analyze the distribution of socioeconomically disadvantaged persons in neighborhoods of 4 European cities—Turin, Barcelona, Stockholm and Helsinki—trying to measure segregation of residents according to their socioeconomic conditions. Two measuring approaches were used, respectively, through dissimilarity index and clustering estimated from Bayesian models. (2) Analyze the distribution of mortality in the above mentioned cities, trying to disentangle the independent effects of both neighborhood socioeconomic deprivation and neighborhood segregation of residents according to their socioeconomic conditions, using multilevel models. A significantly higher risk of death was observed among residents in more deprived neighborhoods in all 4 cities considered, slightly heterogeneous across them. Poverty segregation appeared to be slightly associated with increasing mortality in Turin and, among females and only according to dissimilarity, in Barcelona. Few studies have explored the health effects of social clustering, and results could inform urban policy design with regard to social mix.
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  • Pironon, S., et al. (författare)
  • Toward Unifying Global Hotspots of Wild and Domesticated Biodiversity
  • 2020
  • Ingår i: Plants. - : MDPI AG. - 2223-7747. ; 9:9
  • Tidskriftsartikel (refereegranskat)abstract
    • Global biodiversity hotspots are areas containing high levels of species richness, endemism and threat. Similarly, regions of agriculturally relevant diversity have been identified where many domesticated plants and animals originated, and co-occurred with their wild ancestors and relatives. The agro-biodiversity in these regions has, likewise, often been considered threatened. Biodiversity and agro-biodiversity hotspots partly overlap, but their geographic intricacies have rarely been investigated together. Here we review the history of these two concepts and explore their geographic relationship by analysing global distribution and human use data for all plants, and for major crops and associated wild relatives. We highlight a geographic continuum between agro-biodiversity hotspots that contain high richness in species that are intensively used and well known by humanity (i.e., major crops and most viewed species on Wikipedia) and biodiversity hotspots encompassing species that are less heavily used and documented (i.e., crop wild relatives and species lacking information on Wikipedia). Our contribution highlights the key considerations needed for further developing a unifying concept of agro-biodiversity hotspots that encompasses multiple facets of diversity (including genetic and phylogenetic) and the linkage with overall biodiversity. This integration will ultimately enhance our understanding of the geography of human-plant interactions and help guide the preservation of nature and its contributions to people.
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  • Ulian, T., et al. (författare)
  • Unlocking plant resources to support food security and promote sustainable agriculture
  • 2020
  • Ingår i: Plants People Planet. - : Wiley. - 2572-2611. ; 2:5, s. 421-445
  • Tidskriftsartikel (refereegranskat)abstract
    • Societal Impact Statement Biodiversity is essential to food security and nutrition locally and globally. By reviewing the global state of edible plants and highlighting key neglected and underutilized species (NUS), we attempt to unlock plant food resources and explore the role of fungi, which along with the wealth of traditional knowledge about their uses and practices, could help support sustainable agriculture while ensuring better protection of the environment and the continued delivery of its ecosystem services. This work will inform a wide range of user communities, including scientists, conservation and development organizations, policymakers, and the public of the importance of biodiversity beyond mainstream crops. Summary As the world's population is increasing, humanity is facing both shortages (hunger) and excesses (obesity) of calorie and nutrient intakes. Biodiversity is fundamental to addressing this double challenge, which involves a far better understanding of the global state of food resources. Current estimates suggest that there are at least 7,039 edible plant species, in a broad taxonomic sense, which includes 7,014 vascular plants. This is in striking contrast to the small handful of food crops that provide the majority of humanity's calorie and nutrient intake. Most of these 7,039 edible species have additional uses, the most common being medicines (70%), materials (59%), and environmental uses (40%). Species of major food crops display centers of diversity, as previously proposed, while the rest of edible plants follow latitudinal distribution patterns similarly to the total plant diversity, with higher species richness at lower latitudes. The International Union for Conservation of Nature Red List includes global conservation assessments for at least 30% of edible plants, with ca. 86% of them conserved ex situ. However, at least 11% of those species recorded are threatened. We highlight multipurpose NUS of plants from different regions of the world, which could be key for a more resilient, sustainable, biodiverse, and community participation-driven new "green revolution." Furthermore, we explore how fungi could diversify and increase the nutritional value of our diets. NUS, along with the wealth of traditional knowledge about their uses and practices, offer a largely untapped resource to support food security and sustainable agriculture. However, for these natural resources to be unlocked, enhanced collaboration among stakeholders is vital.
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