| 1. |
- Amirahmadi, Ali, 1994-, et al.
(författare)
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A Masked Language Model for Multi-Source EHR Trajectories Contextual Representation Learning
- 2023
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Ingår i: Caring is Sharing - Exploiting the Value in Data for Health and Innovation - Proceedings of MIE 2023. - Amsterdam : IOS Press. - 0926-9630 .- 1879-8365. - 9781643683881 ; 302, s. 609-610, s. 609-610
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Konferensbidrag (refereegranskat)abstract
- Using electronic health records data and machine learning to guide future decisions needs to address challenges, including 1) long/short-term dependencies and 2) interactions between diseases and interventions. Bidirectional transformers have effectively addressed the first challenge. Here we tackled the latter challenge by masking one source (e.g., ICD10 codes) and training the transformer to predict it using other sources (e.g., ATC codes).
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| 2. |
- Arora, Geeti P, et al.
(författare)
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Phenotypic and genotypic differences between Indian and Scandinavian women with gestational diabetes mellitus
- 2019
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Ingår i: Journal of Internal Medicine. - : Wiley. - 1365-2796 .- 0954-6820. ; 286:2, s. 192-206
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: Gestational diabetes mellitus (GDM) is a transient form of diabetes characterized by impaired insulin secretion and action during pregnancy. Population-based differences in prevalence exist which could be explained by phenotypic and genetic differences. The aim of this study was to examine these differences in pregnant women from Punjab, India and Scandinavia.METHODS: 85 GDM/T2D loci in European and/or Indian populations from previous studies were assessed for association with GDM based on Swedish GDM criteria in 4018 Punjabi Indian and 507 Swedish pregnant women. Selected loci were replicated in Scandinavian cohorts, Radiel (N=398, Finnish), STORK/STORK-G (N=780, Norwegian).RESULTS: Punjabi Indian women had higher GDM prevalence, lower insulin secretion and better insulin sensitivity than Swedish women. There were significant frequency differences of GDM/T2D risk alleles between both populations. rs7178572 at HMG20A, previously associated with GDM in South Indian and European women was replicated in North Indian women. The T2D risk SNP rs11605924 in the CRY2 gene was associated with increased GDM risk in Scandinavian but decreased risk in Punjabi Indian women. No other overlap was seen between GDM loci in both populations.CONCLUSIONS: GDM is more common in Indian than Swedish women, which partially can be attributed to differences in insulin secretion and action. There was marked heterogeneity in the GDM phenotypes between the populations which could only partially be explained by genetic differences. This article is protected by copyright. All rights reserved.
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| 3. |
- Baig, Sharmin, et al.
(författare)
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Evolution and Population Dynamics of Clonal Complex 152 Community-Associated Methicillin-Resistant Staphylococcus aureus
- 2020
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Ingår i: mSphere. - : AMER SOC MICROBIOLOGY. - 2379-5042. ; 5:4
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Tidskriftsartikel (refereegranskat)abstract
- Since the late 1990s, changes in the epidemiology of methicillin-resistant Staphylococcus aureus (MRSA) were recognized with the emergence of community-associated MRSA (CA-MRSA). CA-MRSA belonging to clonal complex 152 (CC152), carrying the small staphylococcal cassette chromosome mec (SCCmec) type V and encoding the Panton-Valentine leukocidin (PVL), has been observed in Europe. The aim of this study was to investigate its origin, evolution, and dissemination. Whole-genome sequencing was performed on a global collection of 149 CC152 isolates spanning 20 years (93 methicillin-susceptible S. aureus [MSSA] and 56 MRSA isolates). Core genome phylogeny, Bayesian inference, in silico resistance analyses, and genomic characterization were applied. Phylogenetic analysis revealed two major distinct clades, one dominated by MSSA and the other populated only by MRSA. The MSSA isolates were predominately from sub-Saharan Africa, whereas MRSA was almost exclusively from Europe. The European MRSA isolates all harbored an SCCmec type V (5C2&5) element, whereas other SCCmec elements were sporadically detected in MRSA from the otherwise MSSA-dominated clade, including SCCmec types IV (2B), V (5C2), and XIII (9A). In total, 93% of the studied CC152 isolates were PVL positive. Bayesian coalescent inference suggests an emergence of the European CC152-MRSA in the 1990s, while the CC152 lineage dates back to the 1970s. The CA-MRSA CC152 clone mimics the European CC80 CA-MRSA lineage by its emergence from a PVL-positive MSSA ancestor from North Africa or Europe. The CC152 lineage has acquired SCCmec several times, but acquisition of SCCmec type V (5C2&5) seems associated with expansion of MRSA CC152 in Europe. IMPORTANCE Understanding the evolution of CA-MRSA is important in light of the increasing importance of this reservoir in the dissemination of MRSA. Here, we highlight the story of the CA-MRSA CC152 lineage using whole-genome sequencing on an international collection of CC152. We show that the evolution of this lineage is novel and that antibiotic usage may have the potential to select for the phage-encoded Panton-Valentine leukocidin. The diversity of the strains correlated highly to geography, with higher level of resistance observed among the European MRSA isolates. The mobility of the SCCmec element is mandatory for the emergence of novel MRSA lineages, and we show here distinct acquisitions, one of which is linked to the successful clone found throughout Europe today.
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| 4. |
- Barredo, José I., et al.
(författare)
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Mapping and assessment of forest ecosystems and their services : Applications and guidance for decision making in the framework of MAES
- 2015
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- The aim of this report is to illustrate by means of a series of case studies the implementation of mapping and assessment of forest ecosystem services in different contexts and geographical levels. Methodological aspects, data issues, approaches, limitations, gaps and further steps for improvement are analysed for providing good practices and decision making guidance. The EU initiative on Mappingand Assessment of Ecosystems and their Services (MAES), with the support of all Member States, contributes to improve the knowledge on ecosystem services. MAES is one of the building-block initiatives supporting the EU Biodiversity Strategy to 2020.
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| 5. |
- Bernes, Claes, et al.
(författare)
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What are the impacts of reindeer/caribou (Rangifer tarandus L.) on arctic and alpine vegetation? : A systematic review protocol
- 2013
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Ingår i: Environmental Evidence. - : BioMed Central (BMC). - 2047-2382. ; 2
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Tidskriftsartikel (refereegranskat)abstract
- Background: Reindeer and caribou (both belonging to the species Rangifer tarandus L.) are among the most important large herbivores in Eurasia’s and North America’s arctic, alpine and boreal zones. In Sweden, the impact of reindeer grazing on arctic and alpine vegetation has recently been re-evaluated. In the 1990s, records of grazing-related vegetation degradation helped to form a widespread perception that some mountain areas were overgrazed. However, later analyses have shown no evidence of large-scale overutilisation of reindeer ranges in the Swedish mountains.The present-day consensus is that overgrazing has been temporary and local, and that it rarely has caused permanent damage, but it is imperative to examine the scientific support for these views. Moreover, the Swedish Parliament has adopted an environmental quality objective according to which it is essential to preserve ‘a mountain landscape characterised by grazing’. No details have been given on how this goal is to be interpreted, which is another reason why the significance of reindeer grazing for arctic/alpine vegetation needs to be assessed.This protocol presents the methodology that will be used in a systematic review of the impact of reindeer herbivory in arctic and alpine ecosystems. The focus will be on Fennoscandia, but data from other parts of the range of R. tarandus will be used when deemed appropriate.Methods: The review will be based on primary field studies that compare vegetation subject to different degrees of reindeer/caribou herbivory (including grazing and browsing as well as trampling). Such comparisons can be either temporal, spatial or both. The review will cover impacts of herbivory in arctic, subarctic, alpine and subalpine areas (including the forest-tundra ecotone) across the range of R. tarandus, but not in boreal forests. Relevant aspects of vegetation include cover (abundance), biomass, diversity (e.g. species richness), structure, composition (including functional groups) and productivity.
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| 6. |
- Bernes, Claes, et al.
(författare)
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What are the impacts of reindeer/caribou (Rangifer tarandus L.) on arctic and alpine vegetation? : A systematic review
- 2015
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Ingår i: Environmental Evidence. - : BMC. - 2047-2382. ; 4:4
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Forskningsöversikt (refereegranskat)abstract
- Background: The reindeer (or caribou, Rangifer tarandus L.) has a natural range extending over much of Eurasia's and North America's arctic, alpine and boreal zones, yet its impact on vegetation is still unclear. This lack of a common understanding hampers both the management of wild and semi-domesticated reindeer populations and the preservation of biodiversity. To achieve a common platform, we have undertaken a systematic review of published studies that compare vegetation at sites with different reindeer densities. Besides biodiversity, we focused on effects on major plant growth forms. Methods: Searches for literature were made using online publication databases, search engines, specialist websites and bibliographies of literature reviews. Search terms were developed in English, Finnish, Norwegian, Russian and Swedish. Identified articles were screened for relevance based on titles, abstracts and full text using inclusion criteria set out in an a priori protocol. Relevant articles were then subject to critical appraisal of susceptibility to bias. Data on outcomes such as abundance, biomass, cover and species richness of vegetation were extracted together with metadata on site properties and other potential effect modifiers. Results: Our searches identified more than 6,000 articles. After screening for relevance, 100 of them remained. Critical appraisal excluded 60 articles, leaving 40 articles with 41 independent studies. Almost two thirds of these studies had been conducted in Fennoscandia. Meta-analysis could be made of data from 31 of the studies. Overall, effects of reindeer on species richness of vascular plants depended on temperature, ranging from negative at low temperature to positive at high temperature. Effects on forbs, graminoids, woody species, and bryophytes were weak or non-significant, whereas the effect on lichens was negative. However, many individual studies showed clear positive or negative effects, but the available information was insufficient to explain this context dependence. Conclusions: We see two pressing matters emerging from our study. First, there is a lack of research with which to build a circumpolar understanding of grazing effects, which calls for more studies using a common protocol to quantify reindeer impacts. Secondly, the highly context-dependent outcomes suggest that research and management have to consider local conditions. For instance, predictions of what a management decision would mean for the effects of reindeer on vegetation will have to take the variation of vegetation types and dominant growth forms, productivity, and grazing history into account. Policy and management have to go hand-in-hand with research in individual cases if the dynamics between plants, animals, and humans are to be sufficiently understood.
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| 7. |
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Caring is sharing : exploiting the value in data for health and innovation
- 2023
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Proceedings (redaktörskap) (refereegranskat)abstract
- Modern information and communication technologies make it easier for individuals to be involved in their own health and social care. They also facilitate contact between individuals and service providers and deliver more efficient tools for healthcare staff. Artificial Intelligence (AI) promises to bring even more benefits in the future, with more effectiveness and the provision of decision support.This book presents the proceedings of the 33rd Medical Informatics Europe Conference, MIE2023, held in Gothenburg, Sweden, from 22 to 25 May 2023. The theme of MIE2023 was ‘Caring is Sharing – Exploiting Value in Data for Health and Innovation’, stressing the increasing importance of sharing digital-health data and the related challenges. The sharing of health data is developing rapidly, both in Europe and beyond, so the focus of the conference was on the enabling of trustworthy sharing of data to improve health. Topics covered include healthcare, community care, self-care, public health, and the innovation and development of future-proof digital-health solutions, and the almost 300 papers divided into 10 chapters also cover important advances in the sub domains of biomedical informatics: decision support systems, clinical information systems, clinical research informatics, knowledge management and representation, consumer health informatics, natural language processing, public health informatics, privacy, ethical and societal aspects among them.Describing innovative approaches to the collection, organization, analysis, and data-sharing related to health and wellbeing, the book contributes to the expertise required to take medical informatics to the next level, and will be of interest to all those working in the field.
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| 8. |
- Elsik, Christine G., et al.
(författare)
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The Genome Sequence of Taurine Cattle : A Window to Ruminant Biology and Evolution
- 2009
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 324:5926, s. 522-528
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Tidskriftsartikel (refereegranskat)abstract
- To understand the biology and evolution of ruminants, the cattle genome was sequenced to about sevenfold coverage. The cattle genome contains a minimum of 22,000 genes, with a core set of 14,345 orthologs shared among seven mammalian species of which 1217 are absent or undetected in noneutherian (marsupial or monotreme) genomes. Cattle-specific evolutionary breakpoint regions in chromosomes have a higher density of segmental duplications, enrichment of repetitive elements, and species-specific variations in genes associated with lactation and immune responsiveness. Genes involved in metabolism are generally highly conserved, although five metabolic genes are deleted or extensively diverged from their human orthologs. The cattle genome sequence thus provides a resource for understanding mammalian evolution and accelerating livestock genetic improvement for milk and meat production.
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| 9. |
- Fragoso-Bargas, Nicolas, et al.
(författare)
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Cohort profile : Epigenetics in Pregnancy (EPIPREG) - population-based sample of European and South Asian pregnant women with epigenome-wide DNA methylation (850k) in peripheral blood leukocytes
- 2021
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Ingår i: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 16:8, s. 1-15
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Tidskriftsartikel (refereegranskat)abstract
- Pregnancy is a valuable model to study the association between DNA methylation and several cardiometabolic traits, due to its direct potential to influence mother's and child's health. Epigenetics in Pregnancy (EPIPREG) is a population-based sample with the aim to study associations between DNA-methylation in pregnancy and cardiometabolic traits in South Asian and European pregnant women and their offspring. This cohort profile paper aims to present our sample with genetic and epigenetic data and invite researchers with similar cohorts to collaborative projects, such as replication of ours or their results and meta-analysis. In EPIPREG we have quantified epigenome-wide DNA methylation in maternal peripheral blood leukocytes in gestational week 28±1 in Europeans (n = 312) and South Asians (n = 168) that participated in the population-based cohort STORK Groruddalen, in Norway. DNA methylation was measured with Infinium MethylationEPIC BeadChip (850k sites), with technical validation of four CpG sites using bisulphite pyrosequencing in a subset (n = 30). The sample is well characterized with few missing data on e.g. genotype, universal screening for gestational diabetes, objectively measured physical activity, bioelectrical impedance, anthropometrics, biochemical measurements, and a biobank with maternal serum and plasma, urine, placenta tissue. In the offspring, we have repeated ultrasounds during pregnancy, cord blood, and anthropometrics up to 4 years of age. We have quantified DNA methylation in peripheral blood leukocytes in nearly all eligible women from the STORK Groruddalen study, to minimize the risk of selection bias. Genetic principal components distinctly separated Europeans and South Asian women, which fully corresponded with the self-reported ethnicity. Technical validation of 4 CpG sites from the methylation bead chip showed good agreement with bisulfite pyrosequencing. We plan to study associations between DNA methylation and cardiometabolic traits and outcomes.
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| 10. |
- Fragoso-Bargas, Nicolas, et al.
(författare)
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Epigenome-wide association study of serum folate in maternal peripheral blood leukocytes
- 2023
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Ingår i: Epigenomics. - : Future Medicine Ltd. - 1750-192X .- 1750-1911. ; 15:1, s. 39-52
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Tidskriftsartikel (refereegranskat)abstract
- Aim: To perform an epigenome-wide association study (EWAS) of serum folate in maternal blood. Methods: Cross-ancestry (Europeans = 302, South Asians = 161) and ancestry-specific EWAS in the EPIPREG cohort were performed, followed by methyl quantitative trait loci analysis and association with cardiometabolic phenotypes. Replication was attempted using maternal folate intake and blood methylation data from the MoBa study and verified if the findings were significant in a previous EWAS of maternal serum folate in cord blood. Results & conclusion: cg19888088 (cross-ancestry) in EBF3, cg01952260 (Europeans) and cg07077240 (South Asians) in HERC3 were associated with serum folate. cg19888088 and cg01952260 were associated with diastolic blood pressure. cg07077240 was associated with variants in CASC15. The findings were not replicated and were not significant in cord blood.
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