| 1. |
- Bentley, Blair P., et al.
(författare)
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Divergent sensory and immune gene evolution in sea turtles with contrasting demographic and life histories
- 2023
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Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences (PNAS). - 0027-8424 .- 1091-6490. ; 120:7
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Tidskriftsartikel (refereegranskat)abstract
- Sea turtles represent an ancient lineage of marine vertebrates that evolved from terrestrial ancestors over 100 Mya. The genomic basis of the unique physiological and ecological traits enabling these species to thrive in diverse marine habitats remains largely unknown. Additionally, many populations have drastically declined due to anthropogenic activities over the past two centuries, and their recovery is a high global conservation priority. We generated and analyzed high-quality reference genomes for the leatherback (Dermochelys coriacea) and green (Chelonia mydas) turtles, representing the two extant sea turtle families. These genomes are highly syntenic and homologous, but localized regions of noncollinearity were associated with higher copy numbers of immune, zinc-finger, and olfactory receptor (OR) genes in green turtles, with ORs related to waterborne odorants greatly expanded in green turtles. Our findings suggest that divergent evolution of these key gene families may underlie immunological and sensory adaptations assisting navigation, occupancy of neritic versus pelagic environments, and diet specialization. Reduced collinearity was especially prevalent in microchromosomes, with greater gene content, heterozygosity, and genetic distances between species, supporting their critical role in vertebrate evolutionary adaptation. Finally, diversity and demographic histories starkly contrasted between species, indicating that leatherback turtles have had a low yet stable effective population size, exhibit extremely low diversity compared with other reptiles, and harbor a higher genetic load compared with green turtles, reinforcing concern over their persistence under future climate scenarios. These genomes provide invaluable resources for advancing our understanding of evolution and conservation best practices in an imperiled vertebrate lineage.
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| 2. |
- Broda, Anja, et al.
(författare)
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Perspectives of policy and political decision makers on access to formal dementia care : expert interviews in eight European countries
- 2017
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Ingår i: BMC Health Services Research. - : Springer Science and Business Media LLC. - 1472-6963. ; 17:1
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: As part of the ActifCare (ACcess to Timely Formal Care) project, we conducted expert interviews in eight European countries with policy and political decision makers, or representatives of relevant institutions, to determine their perspectives on access to formal care for people with dementia and their carers.METHODS: Each ActifCare country (Germany, Ireland, Italy, The Netherlands, Norway, Portugal, Sweden, United Kingdom) conducted semi-structured interviews with 4-7 experts (total N = 38). The interview guide addressed the topics "Complexity and Continuity of Care", "Formal Services", and "Public Awareness". Country-specific analysis of interview transcripts used an inductive qualitative content analysis. Cross-national synthesis focused on similarities in themes across the ActifCare countries.RESULTS: The analysis revealed ten common themes and two additional sub-themes across countries. Among others, the experts highlighted the need for a coordinating role and the necessity of information to address issues of complexity and continuity of care, demanded person-centred, tailored, and multidisciplinary formal services, and referred to education, mass media and campaigns as means to raise public awareness.CONCLUSIONS: Policy and political decision makers appear well acquainted with current discussions among both researchers and practitioners of possible approaches to improve access to dementia care. Experts described pragmatic, realistic strategies to influence dementia care. Suggested innovations concerned how to achieve improved dementia care, rather than transforming the nature of the services provided. Knowledge gained in these expert interviews may be useful to national decision makers when they consider reshaping the organisation of dementia care, and may thus help to develop best-practice strategies and recommendations.
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| 3. |
- 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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| 4. |
- Giorgio, Elisa, et al.
(författare)
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Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression
- 2013
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Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 34:8, s. 1160-1171
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Tidskriftsartikel (refereegranskat)abstract
- Autosomal dominant leukodystrophy (ADLD) is an adult onset demyelinating disorder that is caused by duplications of the lamin B1 (LMNB1) gene. However, as only a few cases have been analyzed in detail, the mechanisms underlying LMNB1 duplications are unclear. We report the detailed molecular analysis of the largest collection of ADLD families studied, to date. We have identified the minimal duplicated region necessary for the disease, defined all the duplication junctions at the nucleotide level and identified the first inverted LMNB1 duplication. We have demonstrated that the duplications are not recurrent; patients with identical duplications share the same haplotype, likely inherited from a common founder and that the duplications originated from intrachromosomal events. The duplication junction sequences indicated that nonhomologous end joining or replication-based mechanisms such fork stalling and template switching or microhomology-mediated break induced repair are likely to be involved. LMNB1 expression was increased in patients' fibroblasts both at mRNA and protein levels and the three LMNB1 alleles in ADLD patients show equal expression, suggesting that regulatory regions are maintained within the rearranged segment. These results have allowed us to elucidate duplication mechanisms and provide insights into allele-specific LMNB1 expression levels.
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| 5. |
- Handels, Ron L. H., et al.
(författare)
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Quality of Life, Care Resource Use, and Costs of Dementia in 8 European Countries in a Cross-Sectional Cohort of the Actifcare Study
- 2018
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Ingår i: Journal of Alzheimer's Disease. - 1387-2877 .- 1875-8908. ; 66:3, s. 1027-1040
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Tidskriftsartikel (refereegranskat)abstract
- Background: With 10.5 million people with dementia in Europe and $301 billion associated costs, governments face challenges organizing access to care. Objective: To examine the costs related to formal and informal care use and quality of life for people with dementia in eight European countries, and explore the association with unmet needs. Methods: Cross-sectional data from 451 persons with dementia and their informal caregivers of the Actifcare cohort study were obtained. Formal and informal care use was multiplied by country specific unit prices of services. Needs were measured using the CANE and health-related quality of life (HRQOL) of the person with dementia (both self- and proxy-rated) and informal caregiver's quality of life using EQ-5D-5L, ICECAP-O, DEMQOL-U, and CarerQol utility scores. The association between costs and country, European region, and unmet needs was assessed using multi-level linear regression. Results: Self-rated EQ-5D-5L utility score was higher than proxy-rated (0.84 and 0.71, respectively). Informal caregivers' utility score was 0.84. Across eight countries annual mean costs of formal and informal care were approximately (sic)17,000. Unmet needs were not associated with annual costs of care, nor with proxy-rated HRQOL, but were associated with self-rated HRQOL. Conclusion: We found varying relationships between unmet needs and quality of life, and no association between unmet needs and care costs, although the results were sensitive to various factors. Future research should further investigate the relation between unmet needs, quality of life and costs to generate a better understanding of the effects of (un)timely access to care.
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| 6. |
- Kattge, Jens, et al.
(författare)
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TRY plant trait database - enhanced coverage and open access
- 2020
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Ingår i: Global Change Biology. - : Wiley-Blackwell. - 1354-1013 .- 1365-2486. ; 26:1, s. 119-188
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Tidskriftsartikel (refereegranskat)abstract
- Plant traits-the morphological, anatomical, physiological, biochemical and phenological characteristics of plants-determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait-based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits-almost complete coverage for 'plant growth form'. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait-environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives.
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| 7. |
- Kerpershoek, Liselot, et al.
(författare)
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Needs and quality of life of people with middle-stage dementia and their family carers from the European Actifcare study. When informal care alone may not suffice
- 2018
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Ingår i: Aging & Mental Health. - : ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD. - 1360-7863 .- 1364-6915. ; 22:7, s. 897-902
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Tidskriftsartikel (refereegranskat)abstract
- Objective: The Actifcare (Access to timely formal care) study investigated needs of people with dementia and their families during the phase in which formal care is being considered, and examined whether higher need levels are related to lower quality of life (QOL).Method: From eight European countries 451 people with dementia and their carers participated. Needs were measured with the Camberwell Assessment of Need for the Elderly. QOL was measured with the QOL-AD, and carer quality of life was measured with the CarerQol. The relationship between needs and QOL was analysed with multiple regression analyses.Results: Needs were expressed in the domains of psychological distress, daytime activities, company and information. People with dementia rated their unmet needs significantly lower than their carers: the mean number of self-rated unmet needs was 0.95, whereas the mean proxy ratings were 1.66. For met needs, the self-rated mean was 5.5 and was 8 when proxy-rated. The level of needs reported was negatively associated with QOL for both.Conclusion: The study results show that informal carers reported almost twice as many needs as people with dementia. The domains in which needs are expressed should be the primary focus for interventions to support QOL.The perspectives of people with dementia are informative when identifying needs.
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| 8. |
- Marques, Maria J., et al.
(författare)
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Relationship quality and sense of coherence in dementia : results of a European cohort study
- 2019
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Ingår i: International Journal of Geriatric Psychiatry. - : John Wiley & Sons. - 0885-6230 .- 1099-1166. ; 34:5, s. 745-755
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Quality of life of people with dementia and their family carers is strongly influenced by interpersonal issues and personal resources. In this context, relationship quality (RQ) and sense of coherence (SOC) potentially protect and promote health. We aimed to identify what influences RQ in dyads of people with dementia and their carers and to examine differences in their perspectives.Methods: Cross-sectional data from the Actifcare cohort study of 451 community-dwelling people with dementia and their primary carers in eight European countries. Comprehensive assessments included the Positive Affect Index (RQ) and the Orientation to Life Questionnaire (SOC).Results: Regression analyses revealed that RQ as perceived by people with dementia was associated with carer education, stress and spouse caregiving. RQ as perceived by carers was associated with carer stress, depression, being a spouse, social support, reported neuropsychiatric symptoms of dementia and carer SOC. Neuropsychiatric symptoms and carer stress contributed to discrepancies in RQ ratings within the dyad. The only factor associated with both individual RQ ratings and with discrepancies was carer stress (negative feelings sub-score). No significant differences in the overall perception of RQ were evident between spouses and adult children carers, but RQ determinants differed between the two.Conclusions: In this European sample, carer SOC was associated with carer-reported RQ. RQ determinants differed according to the perspective considered (person with dementia or carer) and carer subgroup. A deeper understanding of RQ and its determinants will help to tailor interventions that address these distinct perspectives and potentially improve dementia outcomes.
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| 9. |
- Marques, Sueli, et al.
(författare)
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Transcriptional Convergence of Oligodendrocyte Lineage Progenitors during Development
- 2018
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Ingår i: Developmental Cell. - : Elsevier BV. - 1878-1551 .- 1534-5807. ; 46:4, s. 504-517
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Tidskriftsartikel (refereegranskat)abstract
- Pdgfra+ oligodendrocyte precursor cells (OPCs) arise in distinct specification waves during embryogenesis in the central nervous system (CNS). It is unclear whether there is a correlation between these waves and different oligodendrocyte (OL) states at adult stages. Here, we present bulk and single-cell transcriptomics resources providing insights on how transitions between these states occur. We found that post-natal OPCs from brain and spinal cord present similar transcriptional signatures. Moreover, post-natal OPC progeny of E13.5 Pdgfra+ cells present electrophysiological and transcriptional profiles similar to OPCs derived from subsequent specification waves, indicating that Pdgfra+ pre-OPCs rewire their transcriptional network during development. Single-cell RNA-seq and lineage tracing indicates that a subset of E13.5 Pdgfra+ cells originates cells of the pericyte lineage. Thus, our results indicate that embryonic Pdgfra+ cells in the CNS give rise to distinct post-natal cell lineages, including OPCs with convergent transcriptional profiles in different CNS regions.
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| 10. |
- Stephan, Astrid, et al.
(författare)
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Barriers and facilitators to the access to and use of formal dementia care : findings of a focus group study with people with dementia, informal carers and health and social care professionals in eight European countries
- 2018
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Ingår i: BMC Geriatrics. - : BioMed Central. - 1471-2318 .- 1471-2318. ; 18:1
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: People with dementia and informal carers often access formal care late in the process of dementia. The barriers and facilitators to service use from the perspectives of different stakeholders involved are not well understood. Thus, we aimed to explore the barriers and facilitators of access to and utilisation of formal care from the perspectives of people with dementia, their informal carers and health and social care professionals.METHOD: Focus groups with people with dementia, informal carers and professionals were conducted in eight European countries. Recruitment targeted people with dementia, informal carers with experience of formal care and professionals involved in providing (access to) formal care. Qualitative content analysis using open coding was used on a national level. Cross-national synthesis was based on the translated national reports.RESULTS: Overall, 55 focus groups with 261 participants were conducted, involving 51 people with dementia, 96 informal carers and 114 professionals. Sixteen categories describing barriers and facilitators were identified, referring to three global themes: Aspects related to 1) individuals involved, 2) the system or 3) overarching aspects. The attitudes and beliefs of people with dementia and their carers may have a major impact, and they often serve as barriers. Formal care was perceived as a threat to the individual independence of people with dementia and was thus avoided as long as possible. A healthcare professional serving as a constant key contact person could be an essential facilitator to overcome these barriers. Contact should be initiated proactively, as early as possible, and a trusting and consistent relationship needs to be established. Beyond that, the findings largely confirm former research and show that barriers to accessing and using formal care still exist across Europe despite a number of national and European initiatives.CONCLUSION: Further investigations are needed to elaborate how the concept of a key contact person could be integrated with existing case management approaches and how the independence and autonomy of people with dementia can be strengthened when formal care needs to be accessed and used. These may be meaningful facilitators regarding enhanced access to formal care for people with dementia and their families.
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