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  • Open Access
    Authors: 
    Biagini, Carlo; Bongini, Andrea; Ottobri, Paolo; Verdiani, Giorgio;
    Publisher: UPCT
    Countries: Spain, Italy

    The implementation of BIM methodologies for historical buildings presupposes not only the collection of data and information related to its geometric configuration and to the technical parameters of its constituent elements, but more generally the identification of those semantic values which make it part of the historical-cultural heritage shared in a specific context. It is therefore essential that the modelling objectives are explicitly defined in relation to the specific BIM uses required, in order to avoid risks of over-modelling. This paper proposes a process of geometric validation of building information models of high morphological complexity implemented through Scan-to-BIM procedures. By means of a controlled and interoperable workflow, a chain of software applications is defined that is able to determine the level of geometric accuracy (LOA) of the information model with respect to the numerical model derived from the point cloud. Two case studies of H-BIM modelling of historical monumental complexes dating back to the Romanesque period in Sardinia (Italy) are illustrated: the churches of Sant'Efisio a Nora (Cagliari) and Santa Maria del Regno (Sassari). In the discussion of the results, the need for a prior definition of modelling strategies in relation to the expected BIM uses is highlighted. The digital survey was carried out as a part of the research project titled, “The Romanesque and the territory. Construction materials of the Sardegna Giudicale”, and coordinated by prof. Stefano Columbu. The BIM model was developed by a students’ team as part of the teaching activities of the Architectural Drawing course at the School of Engineering, University of Florence. The imagines are extracted from the drawings of the students, Valeria Siddi, Elena Pastorelli, Liuba Gabrielli, Simone Riccio, Elisa Ricotti.

  • Open Access English
    Authors: 
    Núria Blanco-Cabra; Julie Movellan; Marco Marradi; Raquel Gracia; Cristian Salvador; Damien Dupin; Iraida Loinaz; Eduard Torrents;
    Countries: Spain, Italy

    AbstractThe extracellular matrix protects biofilm cells by reducing diffusion of antimicrobials. Tobramycin is an antibiotic used extensively to treat P. aeruginosa biofilms, but it is sequestered in the biofilm periphery by the extracellular negative charge matrix and loses its efficacy significantly. Dispersal of the biofilm extracellular matrix with enzymes such as DNase I is another promising therapy that enhances antibiotic diffusion into the biofilm. Here, we combine the charge neutralization of tobramycin provided by dextran-based single-chain polymer nanoparticles (SCPNs) together with DNase I to break the biofilm matrix. Our study demonstrates that the SCPNs improve the activity of tobramycin and DNase I by neutralizing the ionic interactions that keep this antibiotic in the biofilm periphery. Moreover, the detailed effects and interactions of nanoformulations with extracellular matrix components were revealed through time-lapse imaging of the P. aeruginosa biofilms by laser scanning confocal microscopy with specific labeling of the different biofilm components.

  • Open Access English
    Authors: 
    Carmen del Pilar Gallardo-Montes; Antonio Rodríguez Fuentes; María Jesús Caurcel Cara; Davide Capperucci;
    Countries: Spain, Italy

    Background: Studies on the potential of smartphone apps for people with autism are currently increasing in number, given the large digital supply available and the benefits they offer. We analyzed the opinion of educators from Florence (Italy) and Granada (Spain) regarding the benefits and applicability of apps, frequency of their use, and the type of apps used for people with autism. Methods: The study involved 1261 professionals, of whom 286 worked with apps, using a non-experimental quantitative design, descriptive and frequency statistics, parametric inferential analyses (Student’s t and one-factor ANOVA), and calculation of the effect size (Cohen’s d and eta squared) and intrafactorial correlations. Results: Statistically significant differences were observed in respect of city, sex, age, years of experience, place of work, and type of teacher. The teachers from Granada found more benefits and applicability in apps, and revealed a slightly higher usage than those from Florence. Conclusions: It is an arduous but worthy task for professionals from schools and associations that work with people with autism to acquire the necessary knowledge to apply methodologies based on information and communication technology (ICT), as this will help achieve the integrated development of people with different capabilities.

  • Open Access English
    Authors: 
    Christos Dadousis; Maria Muñoz; Cristina Óvilo; Maria Chiara Fabbri; José Pedro Araújo; Samuele Bovo; Marjeta Čandek Potokar; Rui Charneca; Alessandro Crovetti; Maurizio Gallo; +19 more
    Publisher: Nature Portfolio
    Countries: Spain, Italy, Serbia, France, Portugal, Italy, Croatia, Spain
    Project: EC | TREASURE (634476)

    Preserving diversity of indigenous pig (Sus scrofa) breeds is a key factor to (i) sustain the pork chain (both at local and global scales) including the production of high-quality branded products, (ii) enrich the animal biobanking and (iii) progress conservation policies. Single nucleotide polymorphism (SNP) chips offer the opportunity for whole-genome comparisons among individuals and breeds. Animals from twenty European local pigs breeds, reared in nine countries (Croatia: Black Slavonian, Turopolje; France: Basque, Gascon; Germany: Schwabisch-Hällisches Schwein; Italy: Apulo Calabrese, Casertana, Cinta Senese, Mora Romagnola, Nero Siciliano, Sarda; Lithuania: Indigenous Wattle, White Old Type; Portugal: Alentejana, Bísara; Serbia: Moravka, Swallow-Bellied Mangalitsa; Slovenia: Krškopolje pig; Spain: Iberian, Majorcan Black), and three commercial breeds (Duroc, Landrace and Large White) were sampled and genotyped with the GeneSeek Genomic Profiler (GGP) 70 K HD porcine genotyping chip. A dataset of 51 Wild Boars from nine countries was also added, summing up to 1186 pigs (~ 49 pigs/breed). The aim was to: (i) investigate individual admixture ancestries and (ii) assess breed traceability via discriminant analysis on principal components (DAPC). Albeit the mosaic of shared ancestries found for Nero Siciliano, Sarda and Moravka, admixture analysis indicated independent evolvement for the rest of the breeds. High prediction accuracy of DAPC mark SNP data as a reliable solution for the traceability of breed-specific pig products. This work has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No. 634476 for the project with acronym TREASURE. The content of this article reflects only the authors’ view and the European Union Agency is not responsible for any use that may be made of the information it contains. MŠ and MČP received core-financing by the Slovenian Research Agency (grant number P4-0133). Peer reviewed 13 Pág.

  • Open Access
    Authors: 
    Bellenguez, Céline; Küçükali, Fahri; Jansen, Iris E; Kleineidam, Luca; Moreno-Grau, Sonia; Amin, Najaf; Naj, Adam C; Campos-Martin, Rafael; Grenier-Boley, Benjamin; Andrade, Victor; +289 more
    Publisher: NATURE PUBLISHING GROUP
    Countries: Belgium, Spain, Italy, Italy, Sweden, United Kingdom, Norway, Norway, Belgium, Germany ...

    Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele. This work was funded by a grant (EADB) from the EU Joint Programme – Neurodegenerative Disease Research. INSERM UMR1167 is also funded by the INSERM, Institut Pasteur de Lille, Lille Métropole Communauté Urbaine and French government’s LABEX DISTALZ program (development of innovative strategies for a transdisciplinary approach to AD). Full consortium acknowledgements and funding are in the Supplementary Not 25 páginas, 6 figuras, 2 tablas Peer reviewed

  • Open Access
    Authors: 
    Mistry, M.N.; Schneider, R.; Masselot, P.; Royé, D.; Armstrong, B.; Kyselý, J.; Orru, H.; Sera, F.; Tong, S.; Lavigne, E.; +15 more
    Publisher: Springer Science and Business Media LLC
    Countries: Italy, Switzerland, Spain, Switzerland, Germany
    Project: EC | EXHAUSTION (820655)

    Epidemiological analyses of health risks associated with non-optimal temperature are traditionally based on ground observations from weather stations that offer limited spatial and temporal coverage. Climate reanalysis represents an alternative option that provide complete spatio-temporal exposure coverage, and yet are to be systematically explored for their suitability in assessing temperature-related health risks at a global scale. Here we provide the first comprehensive analysis over multiple regions to assess the suitability of the most recent generation of reanalysis datasets for health impact assessments and evaluate their comparative performance against traditional station-based data. Our findings show that reanalysis temperature from the last ERA5 products generally compare well to station observations, with similar non-optimal temperature-related risk estimates. However, the analysis offers some indication of lower performance in tropical regions, with a likely underestimation of heat-related excess mortality. Reanalysis data represent a valid alternative source of exposure variables in epidemiological analyses of temperature-related risk. The study was primarily supported by Grants from the European Commission’s Joint Research Centre Seville (Research Contract ID: JRC/SVQ/2020/MVP/1654), Medical Research Council-UK (Grant ID: MR/R013349/1), Natural Environment Research Council UK (Grant ID: NE/R009384/1), European Union’s Horizon 2020 Project Exhaustion (Grant ID: 820655). The following individual Grants also supported this work: J.K and A.U were supported by the Czech Science Foundation, project 20-28560S. A.T was supported by MCIN/AEI/10.13039/501100011033, Grant CEX2018-000794-S. V.H was supported by the European Union’s Horizon 2020 research and innovation programme under the Marie Skłodowska-Curie Grant agreement No 101032087. This work was generated using Copernicus Climate Change Service (C3S) information [1985–2019]. Peer reviewed

  • Publication . Other literature type . Article . 2022
    Open Access English
    Authors: 
    Giulio Formenti; Kathrin Theissinger; Carlos Fernandes; Iliana Bista; Aureliano Bombarely; Christoph Bleidorn; Claudio Ciofi; Angelica Crottini; José A. Godoy; Jacob Höglund; +148 more
    Publisher: Cell Press
    Countries: Netherlands, France, Spain, Italy, Slovenia, United Kingdom, Spain, Portugal, Croatia, Italy ...

    Progress in genome sequencing now enables the large-scale generation of reference genomes. Various international initiatives aim to generate reference genomes representing global biodiversity. These genomes provide unique insights into genomic diversity and architecture, thereby enabling comprehensive analyses of population and functional genomics, and are expected to revolutionize conservation genomics. Trends in Ecology & Evolution, 37 (3) ISSN:0169-5347 ISSN:1872-8383

  • Publication . Article . 2022
    Open Access English
    Authors: 
    Roberto Cazzolla Gatti; Peter B. Reich; Javier G. P. Gamarra; Tom Crowther; Cang Hui; Albert Morera; Jean-Francois Bastin; Sergio de-Miguel; Gert-Jan Nabuurs; Jens-Christian Svenning; +138 more
    Countries: Spain, Italy, Denmark, United Kingdom, Switzerland, Germany, Australia, Italy, France, Austria ...

    One of the most fundamental questions in ecology is how many species inhabit the Earth. However, due to massive logistical and financial challenges and taxonomic difficulties connected to the species concept definition, the global numbers of species, including those of important and well-studied life forms such as trees, still remain largely unknown. Here, based on global ground-sourced data, we estimate the total tree species richness at global, continental, and biome levels. Our results indicate that there are ∼73,000 tree species globally, among which ∼9,000 tree species are yet to be discovered. Roughly 40% of undiscovered tree species are in South America. Moreover, almost one-third of all tree species to be discovered may be rare, with very low populations and limited spatial distribution (likely in remote tropical lowlands and mountains). These findings highlight the vulnerability of global forest biodiversity to anthropogenic changes in land use and climate, which disproportionately threaten rare species and thus, global tree richness. Proceedings of the National Academy of Sciences of the United States of America, 119 (6) ISSN:1091-6490 ISSN:0027-8424

  • Open Access English
    Authors: 
    Giuseppina Schiavo; Samuele Bovo; María Muñoz; Anisa Ribani; Estefania Alves; José Pedro Araújo; Riccardo Bozzi; Marjeta Čandek-Potokar; Rui Charneca; Ana Isabel Fernández; +17 more
    Publisher: HAL CCSD
    Countries: France, Croatia, Serbia, Italy, France
    Project: EC | TREASURE (634476)

    International audience; ROHs are long stretches of DNA homozygous at each polymorphic position. The proportion of genome covered by ROHs and their length are indicators of the level and origin of inbreeding. Frequent common ROHs within the same population define ROH islands and indicate hotspots of selection. In this work, we investigated ROHs in a total of 1131 pigs from 20 European local pig breeds and in three cosmopolitan breeds, genotyped with the GGP Porcine HD Genomic Profiler. plink software was used to identify ROHs. Size classes and genomic inbreeding parameters were evaluated. ROH islands were defined by evaluating different thresholds of homozygous SNP frequency. A functional overview of breed-specific ROH islands was obtained via over-representation analyses of GO biological processes. Mora Romagnola and Turopolje breeds had the largest proportions of genome covered with ROH (similar to 1003 and similar to 955 Mb respectively), whereas Nero Siciliano and Sarda breeds had the lowest proportions (similar to 207 and 247 Mb respectively). The highest proportion of long ROH (>16 Mb) was in Apulo-Calabrese, Mora Romagnola and Casertana. The largest number of ROH islands was identified in the Italian Landrace (n = 32), Cinta Senese (n = 26) and Lithuanian White Old Type (n = 22) breeds. Several ROH islands were in regions encompassing genes known to affect morphological traits. Comparative ROH structure analysis among breeds indicated the similar genetic structure of local breeds across Europe. This study contributed to understanding of the genetic history of the investigated pig breeds and provided information to manage these pig genetic resources.

  • Open Access English
    Authors: 
    Niamh Mullins; JooEun Kang; Adrian I. Campos; Jonathan R.I. Coleman; Alexis C. Edwards; Hanga Galfalvy; Daniel F. Levey; Adriana Lori; Andrey Shabalin; Anna Starnawska; +240 more
    Countries: Netherlands, United Kingdom, Norway, Sweden, Spain, Germany, Italy, Italy, Norway, Portugal ...

    BACKGROUND: Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared and partially distinct from that of related psychiatric disorders. METHODS: We conducted a genome-wide association study (GWAS) of 29,782 suicide attempt (SA) cases and 519,961 controls in the International Suicide Genetics Consortium (ISGC). The GWAS of SA was conditioned on psychiatric disorders using GWAS summary statistics via multitrait-based conditional and joint analysis, to remove genetic effects on SA mediated by psychiatric disorders. We investigated the shared and divergent genetic architectures of SA, psychiatric disorders, and other known risk factors. RESULTS: Two loci reached genome-wide significance for SA: the major histocompatibility complex and an intergenic locus on chromosome 7, the latter of which remained associated with SA after conditioning on psychiatric disorders and replicated in an independent cohort from the Million Veteran Program. This locus has been implicated in risk-taking behavior, smoking, and insomnia. SA showed strong genetic correlation with psychiatric disorders, particularly major depression, and also with smoking, pain, risk-taking behavior, sleep disturbances, lower educational attainment, reproductive traits, lower socioeconomic status, and poorer general health. After conditioning on psychiatric disorders, the genetic correlations between SA and psychiatric disorders decreased, whereas those with nonpsychiatric traits remained largely unchanged. CONCLUSIONS: Our results identify a risk locus that contributes more strongly to SA than other phenotypes and suggest a shared underlying biology between SA and known risk factors that is not mediated by psychiatric disorders. Statistical analyses were carried out on the NL Genetic Cluster Computer (http://www.geneticcluster.org) hosted by SURFsara and the Mount Sinai high performance computing cluster (http://hpc.mssm.edu), which is supported by the Office of Research Infrastructure of the National Institutes of Health (Grant Nos. S10OD018522 and S10OD026880). This work was conducted in part using the resources of the Advanced Computing Center for Research and Education at Vanderbilt University, Nashville, TN. This work was funded by the National Institutes of Health (Grant Nos. R01MH116269 and R01MH121455 [to DMR]), NIGMS of the National Institutes of Health (Grant No. T32GM007347 [to JK]), and the Brain & Behavior Research Foundation (NARSAD Young Investigator Award No. 29551 [to NM]). Office of Research Infrastructure of the National Institutes of Health S10OD018522 S10OD026880 NIH National Institute of General Medical Sciences (NIGMS) T32GM007347 NARSAD 29551 National Institutes of Health (NIH) - USA R01MH116269 R01MH121455 United States Department of Health & Human Services

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  • Open Access
    Authors: 
    Biagini, Carlo; Bongini, Andrea; Ottobri, Paolo; Verdiani, Giorgio;
    Publisher: UPCT
    Countries: Spain, Italy

    The implementation of BIM methodologies for historical buildings presupposes not only the collection of data and information related to its geometric configuration and to the technical parameters of its constituent elements, but more generally the identification of those semantic values which make it part of the historical-cultural heritage shared in a specific context. It is therefore essential that the modelling objectives are explicitly defined in relation to the specific BIM uses required, in order to avoid risks of over-modelling. This paper proposes a process of geometric validation of building information models of high morphological complexity implemented through Scan-to-BIM procedures. By means of a controlled and interoperable workflow, a chain of software applications is defined that is able to determine the level of geometric accuracy (LOA) of the information model with respect to the numerical model derived from the point cloud. Two case studies of H-BIM modelling of historical monumental complexes dating back to the Romanesque period in Sardinia (Italy) are illustrated: the churches of Sant'Efisio a Nora (Cagliari) and Santa Maria del Regno (Sassari). In the discussion of the results, the need for a prior definition of modelling strategies in relation to the expected BIM uses is highlighted. The digital survey was carried out as a part of the research project titled, “The Romanesque and the territory. Construction materials of the Sardegna Giudicale”, and coordinated by prof. Stefano Columbu. The BIM model was developed by a students’ team as part of the teaching activities of the Architectural Drawing course at the School of Engineering, University of Florence. The imagines are extracted from the drawings of the students, Valeria Siddi, Elena Pastorelli, Liuba Gabrielli, Simone Riccio, Elisa Ricotti.

  • Open Access English
    Authors: 
    Núria Blanco-Cabra; Julie Movellan; Marco Marradi; Raquel Gracia; Cristian Salvador; Damien Dupin; Iraida Loinaz; Eduard Torrents;
    Countries: Spain, Italy

    AbstractThe extracellular matrix protects biofilm cells by reducing diffusion of antimicrobials. Tobramycin is an antibiotic used extensively to treat P. aeruginosa biofilms, but it is sequestered in the biofilm periphery by the extracellular negative charge matrix and loses its efficacy significantly. Dispersal of the biofilm extracellular matrix with enzymes such as DNase I is another promising therapy that enhances antibiotic diffusion into the biofilm. Here, we combine the charge neutralization of tobramycin provided by dextran-based single-chain polymer nanoparticles (SCPNs) together with DNase I to break the biofilm matrix. Our study demonstrates that the SCPNs improve the activity of tobramycin and DNase I by neutralizing the ionic interactions that keep this antibiotic in the biofilm periphery. Moreover, the detailed effects and interactions of nanoformulations with extracellular matrix components were revealed through time-lapse imaging of the P. aeruginosa biofilms by laser scanning confocal microscopy with specific labeling of the different biofilm components.

  • Open Access English
    Authors: 
    Carmen del Pilar Gallardo-Montes; Antonio Rodríguez Fuentes; María Jesús Caurcel Cara; Davide Capperucci;
    Countries: Spain, Italy

    Background: Studies on the potential of smartphone apps for people with autism are currently increasing in number, given the large digital supply available and the benefits they offer. We analyzed the opinion of educators from Florence (Italy) and Granada (Spain) regarding the benefits and applicability of apps, frequency of their use, and the type of apps used for people with autism. Methods: The study involved 1261 professionals, of whom 286 worked with apps, using a non-experimental quantitative design, descriptive and frequency statistics, parametric inferential analyses (Student’s t and one-factor ANOVA), and calculation of the effect size (Cohen’s d and eta squared) and intrafactorial correlations. Results: Statistically significant differences were observed in respect of city, sex, age, years of experience, place of work, and type of teacher. The teachers from Granada found more benefits and applicability in apps, and revealed a slightly higher usage than those from Florence. Conclusions: It is an arduous but worthy task for professionals from schools and associations that work with people with autism to acquire the necessary knowledge to apply methodologies based on information and communication technology (ICT), as this will help achieve the integrated development of people with different capabilities.

  • Open Access English
    Authors: 
    Christos Dadousis; Maria Muñoz; Cristina Óvilo; Maria Chiara Fabbri; José Pedro Araújo; Samuele Bovo; Marjeta Čandek Potokar; Rui Charneca; Alessandro Crovetti; Maurizio Gallo; +19 more
    Publisher: Nature Portfolio
    Countries: Spain, Italy, Serbia, France, Portugal, Italy, Croatia, Spain
    Project: EC | TREASURE (634476)

    Preserving diversity of indigenous pig (Sus scrofa) breeds is a key factor to (i) sustain the pork chain (both at local and global scales) including the production of high-quality branded products, (ii) enrich the animal biobanking and (iii) progress conservation policies. Single nucleotide polymorphism (SNP) chips offer the opportunity for whole-genome comparisons among individuals and breeds. Animals from twenty European local pigs breeds, reared in nine countries (Croatia: Black Slavonian, Turopolje; France: Basque, Gascon; Germany: Schwabisch-Hällisches Schwein; Italy: Apulo Calabrese, Casertana, Cinta Senese, Mora Romagnola, Nero Siciliano, Sarda; Lithuania: Indigenous Wattle, White Old Type; Portugal: Alentejana, Bísara; Serbia: Moravka, Swallow-Bellied Mangalitsa; Slovenia: Krškopolje pig; Spain: Iberian, Majorcan Black), and three commercial breeds (Duroc, Landrace and Large White) were sampled and genotyped with the GeneSeek Genomic Profiler (GGP) 70 K HD porcine genotyping chip. A dataset of 51 Wild Boars from nine countries was also added, summing up to 1186 pigs (~ 49 pigs/breed). The aim was to: (i) investigate individual admixture ancestries and (ii) assess breed traceability via discriminant analysis on principal components (DAPC). Albeit the mosaic of shared ancestries found for Nero Siciliano, Sarda and Moravka, admixture analysis indicated independent evolvement for the rest of the breeds. High prediction accuracy of DAPC mark SNP data as a reliable solution for the traceability of breed-specific pig products. This work has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No. 634476 for the project with acronym TREASURE. The content of this article reflects only the authors’ view and the European Union Agency is not responsible for any use that may be made of the information it contains. MŠ and MČP received core-financing by the Slovenian Research Agency (grant number P4-0133). Peer reviewed 13 Pág.

  • Open Access
    Authors: 
    Bellenguez, Céline; Küçükali, Fahri; Jansen, Iris E; Kleineidam, Luca; Moreno-Grau, Sonia; Amin, Najaf; Naj, Adam C; Campos-Martin, Rafael; Grenier-Boley, Benjamin; Andrade, Victor; +289 more
    Publisher: NATURE PUBLISHING GROUP
    Countries: Belgium, Spain, Italy, Italy, Sweden, United Kingdom, Norway, Norway, Belgium, Germany ...

    Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele. This work was funded by a grant (EADB) from the EU Joint Programme – Neurodegenerative Disease Research. INSERM UMR1167 is also funded by the INSERM, Institut Pasteur de Lille, Lille Métropole Communauté Urbaine and French government’s LABEX DISTALZ program (development of innovative strategies for a transdisciplinary approach to AD). Full consortium acknowledgements and funding are in the Supplementary Not 25 páginas, 6 figuras, 2 tablas Peer reviewed

  • Open Access
    Authors: 
    Mistry, M.N.; Schneider, R.; Masselot, P.; Royé, D.; Armstrong, B.; Kyselý, J.; Orru, H.; Sera, F.; Tong, S.; Lavigne, E.; +15 more
    Publisher: Springer Science and Business Media LLC
    Countries: Italy, Switzerland, Spain, Switzerland, Germany
    Project: EC | EXHAUSTION (820655)

    Epidemiological analyses of health risks associated with non-optimal temperature are traditionally based on ground observations from weather stations that offer limited spatial and temporal coverage. Climate reanalysis represents an alternative option that provide complete spatio-temporal exposure coverage, and yet are to be systematically explored for their suitability in assessing temperature-related health risks at a global scale. Here we provide the first comprehensive analysis over multiple regions to assess the suitability of the most recent generation of reanalysis datasets for health impact assessments and evaluate their comparative performance against traditional station-based data. Our findings show that reanalysis temperature from the last ERA5 products generally compare well to station observations, with similar non-optimal temperature-related risk estimates. However, the analysis offers some indication of lower performance in tropical regions, with a likely underestimation of heat-related excess mortality. Reanalysis data represent a valid alternative source of exposure variables in epidemiological analyses of temperature-related risk. The study was primarily supported by Grants from the European Commission’s Joint Research Centre Seville (Research Contract ID: JRC/SVQ/2020/MVP/1654), Medical Research Council-UK (Grant ID: MR/R013349/1), Natural Environment Research Council UK (Grant ID: NE/R009384/1), European Union’s Horizon 2020 Project Exhaustion (Grant ID: 820655). The following individual Grants also supported this work: J.K and A.U were supported by the Czech Science Foundation, project 20-28560S. A.T was supported by MCIN/AEI/10.13039/501100011033, Grant CEX2018-000794-S. V.H was supported by the European Union’s Horizon 2020 research and innovation programme under the Marie Skłodowska-Curie Grant agreement No 101032087. This work was generated using Copernicus Climate Change Service (C3S) information [1985–2019]. Peer reviewed

  • Publication . Other literature type . Article . 2022
    Open Access English
    Authors: 
    Giulio Formenti; Kathrin Theissinger; Carlos Fernandes; Iliana Bista; Aureliano Bombarely; Christoph Bleidorn; Claudio Ciofi; Angelica Crottini; José A. Godoy; Jacob Höglund; +148 more
    Publisher: Cell Press
    Countries: Netherlands, France, Spain, Italy, Slovenia, United Kingdom, Spain, Portugal, Croatia, Italy ...

    Progress in genome sequencing now enables the large-scale generation of reference genomes. Various international initiatives aim to generate reference genomes representing global biodiversity. These genomes provide unique insights into genomic diversity and architecture, thereby enabling comprehensive analyses of population and functional genomics, and are expected to revolutionize conservation genomics. Trends in Ecology & Evolution, 37 (3) ISSN:0169-5347 ISSN:1872-8383

  • Publication . Article . 2022
    Open Access English
    Authors: 
    Roberto Cazzolla Gatti; Peter B. Reich; Javier G. P. Gamarra; Tom Crowther; Cang Hui; Albert Morera; Jean-Francois Bastin; Sergio de-Miguel; Gert-Jan Nabuurs; Jens-Christian Svenning; +138 more
    Countries: Spain, Italy, Denmark, United Kingdom, Switzerland, Germany, Australia, Italy, France, Austria ...

    One of the most fundamental questions in ecology is how many species inhabit the Earth. However, due to massive logistical and financial challenges and taxonomic difficulties connected to the species concept definition, the global numbers of species, including those of important and well-studied life forms such as trees, still remain largely unknown. Here, based on global ground-sourced data, we estimate the total tree species richness at global, continental, and biome levels. Our results indicate that there are ∼73,000 tree species globally, among which ∼9,000 tree species are yet to be discovered. Roughly 40% of undiscovered tree species are in South America. Moreover, almost one-third of all tree species to be discovered may be rare, with very low populations and limited spatial distribution (likely in remote tropical lowlands and mountains). These findings highlight the vulnerability of global forest biodiversity to anthropogenic changes in land use and climate, which disproportionately threaten rare species and thus, global tree richness. Proceedings of the National Academy of Sciences of the United States of America, 119 (6) ISSN:1091-6490 ISSN:0027-8424

  • Open Access English
    Authors: 
    Giuseppina Schiavo; Samuele Bovo; María Muñoz; Anisa Ribani; Estefania Alves; José Pedro Araújo; Riccardo Bozzi; Marjeta Čandek-Potokar; Rui Charneca; Ana Isabel Fernández; +17 more
    Publisher: HAL CCSD
    Countries: France, Croatia, Serbia, Italy, France
    Project: EC | TREASURE (634476)

    International audience; ROHs are long stretches of DNA homozygous at each polymorphic position. The proportion of genome covered by ROHs and their length are indicators of the level and origin of inbreeding. Frequent common ROHs within the same population define ROH islands and indicate hotspots of selection. In this work, we investigated ROHs in a total of 1131 pigs from 20 European local pig breeds and in three cosmopolitan breeds, genotyped with the GGP Porcine HD Genomic Profiler. plink software was used to identify ROHs. Size classes and genomic inbreeding parameters were evaluated. ROH islands were defined by evaluating different thresholds of homozygous SNP frequency. A functional overview of breed-specific ROH islands was obtained via over-representation analyses of GO biological processes. Mora Romagnola and Turopolje breeds had the largest proportions of genome covered with ROH (similar to 1003 and similar to 955 Mb respectively), whereas Nero Siciliano and Sarda breeds had the lowest proportions (similar to 207 and 247 Mb respectively). The highest proportion of long ROH (>16 Mb) was in Apulo-Calabrese, Mora Romagnola and Casertana. The largest number of ROH islands was identified in the Italian Landrace (n = 32), Cinta Senese (n = 26) and Lithuanian White Old Type (n = 22) breeds. Several ROH islands were in regions encompassing genes known to affect morphological traits. Comparative ROH structure analysis among breeds indicated the similar genetic structure of local breeds across Europe. This study contributed to understanding of the genetic history of the investigated pig breeds and provided information to manage these pig genetic resources.

  • Open Access English
    Authors: 
    Niamh Mullins; JooEun Kang; Adrian I. Campos; Jonathan R.I. Coleman; Alexis C. Edwards; Hanga Galfalvy; Daniel F. Levey; Adriana Lori; Andrey Shabalin; Anna Starnawska; +240 more
    Countries: Netherlands, United Kingdom, Norway, Sweden, Spain, Germany, Italy, Italy, Norway, Portugal ...

    BACKGROUND: Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared and partially distinct from that of related psychiatric disorders. METHODS: We conducted a genome-wide association study (GWAS) of 29,782 suicide attempt (SA) cases and 519,961 controls in the International Suicide Genetics Consortium (ISGC). The GWAS of SA was conditioned on psychiatric disorders using GWAS summary statistics via multitrait-based conditional and joint analysis, to remove genetic effects on SA mediated by psychiatric disorders. We investigated the shared and divergent genetic architectures of SA, psychiatric disorders, and other known risk factors. RESULTS: Two loci reached genome-wide significance for SA: the major histocompatibility complex and an intergenic locus on chromosome 7, the latter of which remained associated with SA after conditioning on psychiatric disorders and replicated in an independent cohort from the Million Veteran Program. This locus has been implicated in risk-taking behavior, smoking, and insomnia. SA showed strong genetic correlation with psychiatric disorders, particularly major depression, and also with smoking, pain, risk-taking behavior, sleep disturbances, lower educational attainment, reproductive traits, lower socioeconomic status, and poorer general health. After conditioning on psychiatric disorders, the genetic correlations between SA and psychiatric disorders decreased, whereas those with nonpsychiatric traits remained largely unchanged. CONCLUSIONS: Our results identify a risk locus that contributes more strongly to SA than other phenotypes and suggest a shared underlying biology between SA and known risk factors that is not mediated by psychiatric disorders. Statistical analyses were carried out on the NL Genetic Cluster Computer (http://www.geneticcluster.org) hosted by SURFsara and the Mount Sinai high performance computing cluster (http://hpc.mssm.edu), which is supported by the Office of Research Infrastructure of the National Institutes of Health (Grant Nos. S10OD018522 and S10OD026880). This work was conducted in part using the resources of the Advanced Computing Center for Research and Education at Vanderbilt University, Nashville, TN. This work was funded by the National Institutes of Health (Grant Nos. R01MH116269 and R01MH121455 [to DMR]), NIGMS of the National Institutes of Health (Grant No. T32GM007347 [to JK]), and the Brain & Behavior Research Foundation (NARSAD Young Investigator Award No. 29551 [to NM]). Office of Research Infrastructure of the National Institutes of Health S10OD018522 S10OD026880 NIH National Institute of General Medical Sciences (NIGMS) T32GM007347 NARSAD 29551 National Institutes of Health (NIH) - USA R01MH116269 R01MH121455 United States Department of Health & Human Services

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