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| 2. |
- Andrén, Thomas, 1954-, et al.
(författare)
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IODP expedition 347 : Baltic Sea basin paleoenvironment and biosphere
- 2015
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Ingår i: Scientific Drilling. - : Copernicus GmbH. - 1816-8957 .- 1816-3459. ; 20, s. 1-12
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Tidskriftsartikel (refereegranskat)abstract
- The Integrated Ocean Drilling Program (IODP) expedition 347 cored sediments from different settings of the Baltic Sea covering the last glacial–interglacial cycle. The main aim was to study the geological development of the Baltic Sea in relation to the extreme climate variability of the region with changing ice cover and major shifts in temperature, salinity, and biological communities. Using the Greatship Manisha as a European Consortium for Ocean Research Drilling (ECORD) mission-specific platform, we recovered 1.6 km of core from nine sites of which four were additionally cored for microbiology. The sites covered the gateway to the North Sea and Atlantic Ocean, several sub-basins in the southern Baltic Sea, a deep basin in the central Baltic Sea, and a river estuary in the north.The waxing and waning of the Scandinavian ice sheet has profoundly affected the Baltic Sea sediments. During theWeichselian, progressing glaciers reshaped the submarine landscape and displaced sedimentary deposits from earlier Quaternary time. As the glaciers retreated they left a complex pattern of till, sand, and lacustrine clay, which in the basins has since been covered by a thick deposit of Holocene, organic-rich clay. Due to the stratified water column of the brackish Baltic Sea and the recurrent and widespread anoxia, the deeper basins harbor laminated sediments that provide a unique opportunity for high-resolution chronological studies.The Baltic Sea is a eutrophic intra-continental sea that is strongly impacted by terrestrial runoff and nutrient fluxes. The Holocene deposits are recorded today to be up to 50m deep and geochemically affected by diagenetic alterations driven by organic matter degradation. Many of the cored sequences were highly supersaturated with respect to methane, which caused strong degassing upon core recovery. The depth distributions of conservative sea water ions still reflected the transition at the end of the last glaciation from fresh-water clays to Holocene brackish mud. High-resolution sampling and analyses of interstitial water chemistry revealed the intensive mineralization and zonation of the predominant biogeochemical processes. Quantification of microbial cells in the sediments yielded some of the highest cell densities yet recorded by scientific drilling.
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| 3. |
- Andrikopoulos, Petros, et al.
(författare)
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Evidence of a causal and modifiable relationship between kidney function and circulating trimethylamine N-oxide
- 2023
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Ingår i: Nature Communications. - 2041-1723 .- 2041-1723. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- The host-microbiota co-metabolite trimethylamine N-oxide (TMAO) is linked to increased cardiovascular risk but how its circulating levels are regulated remains unclear. We applied "explainable" machine learning, univariate, multivariate and mediation analyses of fasting plasma TMAO concentration and a multitude of phenotypes in 1,741 adult Europeans of the MetaCardis study. Here we show that next to age, kidney function is the primary variable predicting circulating TMAO, with microbiota composition and diet playing minor, albeit significant, roles. Mediation analysis suggests a causal relationship between TMAO and kidney function that we corroborate in preclinical models where TMAO exposure increases kidney scarring. Consistent with our findings, patients receiving glucose-lowering drugs with reno-protective properties have significantly lower circulating TMAO when compared to propensity-score matched control individuals. Our analyses uncover a bidirectional relationship between kidney function and TMAO that can potentially be modified by reno-protective anti-diabetic drugs and suggest a clinically actionable intervention for decreasing TMAO-associated excess cardiovascular risk.
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| 4. |
- Aranda-Guillén, Maribel, et al.
(författare)
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A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies.
- 2023
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Ingår i: Journal of internal medicine. - : John Wiley & Sons. - 0954-6820 .- 1365-2796. ; 294:1, s. 96-109
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Tidskriftsartikel (refereegranskat)abstract
- Autoimmune Addison's disease (AAD) is the most common cause of primary adrenal insufficiency (PAI). Despite its exceptionally high heritability, tools to estimate disease susceptibility in individual patients are lacking. We hypothesized that polygenic risk score (PRS) for AAD could help investigate PAI pathogenesis in pediatric patients.We here constructed and evaluated a PRS for AAD in 1223 seropositive cases and 4097 controls. To test its clinical utility, we reevaluated 18 pediatric patients, whose whole genome we also sequenced. We next explored the individual PRS in more than 120 seronegative patients with idiopathic PAI.The genetic susceptibility to AAD-quantified using PRS-was on average 1.5 standard deviations (SD) higher in patients compared with healthy controls (p<2e-16), and 1.2 SD higher in the young patients compared with the old (p=3e-4). Using the novel PRS, we searched for pediatric patients with strikingly low AAD susceptibility and identified cases of monogenic PAI, previously misdiagnosed as AAD. By stratifying seronegative adult patients by autoimmune comorbidities and disease duration we could delineate subgroups of PRS suggesting various disease etiologies.The PRS performed well for case-control differentiation and susceptibility estimation in individual patients. Remarkably, a PRS for AAD holds promise as a means to detect disease etiologies other than autoimmunity.
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| 5. |
- Barrett, Scott, et al.
(författare)
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Social dimensions of fertility behavior and consumption patterns in the Anthropocene
- 2020
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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. - 0027-8424 .- 1091-6490. ; 117:12, s. 6300-6307
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Tidskriftsartikel (refereegranskat)abstract
- We consider two aspects of the human enterprise that profoundly affect the global environment: population and consumption. We show that fertility and consumption behavior harbor a class of externalities that have not been much noted in the literature. Both are driven in part by attitudes and preferences that are not egoistic but socially embedded; that is, each household's decisions are influenced by the decisions made by others. In a famous paper, Garrett Hardin [G. Hardin, Science 162, 1243-1248 (1968)] drew attention to overpopulation and concluded that the solution lay in people abandoning the freedom to breed. That human attitudes and practices are socially embedded suggests that it is possible for people to reduce their fertility rates and consumption demands without experiencing a loss in wellbeing. We focus on fertility in sub-Saharan Africa and consumption in the rich world and argue that bottom-up social mechanisms rather than top-down government interventions are better placed to bring about those ecologically desirable changes.
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| 6. |
- Bentham, James, et al.
(författare)
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A century of trends in adult human height
- 2016
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Ingår i: eLIFE. - : eLife Sciences Publications Ltd. - 2050-084X. ; 5
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Tidskriftsartikel (refereegranskat)abstract
- Being taller is associated with enhanced longevity, and higher education and earnings. We reanalysed 1472 population-based studies, with measurement of height on more than 18.6 million participants to estimate mean height for people born between 1896 and 1996 in 200 countries. The largest gain in adult height over the past century has occurred in South Korean women and Iranian men, who became 20.2 cm (95% credible interval 17.5–22.7) and 16.5 cm (13.3– 19.7) taller, respectively. In contrast, there was little change in adult height in some sub-Saharan African countries and in South Asia over the century of analysis. The tallest people over these 100 years are men born in the Netherlands in the last quarter of 20th century, whose average heights surpassed 182.5 cm, and the shortest were women born in Guatemala in 1896 (140.3 cm; 135.8– 144.8). The height differential between the tallest and shortest populations was 19-20 cm a century ago, and has remained the same for women and increased for men a century later despite substantial changes in the ranking of countries.
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| 8. |
- Divanoglou, Anestis, et al.
(författare)
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Active Rehabilitation for persons with spinal cord injury in Botswana – effects of a community peer-based programme
- 2019
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Ingår i: Spinal Cord. - : Springer Science and Business Media LLC. - 1362-4393 .- 1476-5624.
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Tidskriftsartikel (refereegranskat)abstract
- Study design:: Prospective cohort study with a repeated measures analysis. Objectives:: To measure the effects of the Active Rehabilitation (AR) training programme for community-dwelling individuals with spinal cord injury (SCI) in Botswana on physical independence, wheelchair mobility, self-efficacy, life satisfaction, level of physical activity and community participation. Setting:: The inaugural AR training programme in Botswana, a community peer-based programme for people with SCI. The 10-day residential programme in Botswana was led by an international team of peer mentors and health professionals. Methods:: Participants with SCI (on average 4 years after injury) completed a survey comprising a battery of standardised outcome measures at three timepoints: at the start, on completion and at 5 months after the programme (n = 14). Participants also completed a practical wheelchair skills test at start and completion of the programme (n = 17). Results:: Participants improved in the mobility subscale of the Spinal Cord Independence Measure Self Report on completion (p = 0.011, d = 0.85) and at 5-month follow-up (p = 0.005, d = 0.93) as compared to baseline. They also achieved moderate improvement in self-efficacy to manage their condition (physical function domain of Moorong Self-Efficacy Scale) and large improvements in wheelchair mobility as assessed through the Queensland Evaluation of Wheelchair Skills test and the Wheelchair Skills Test Questionnaire. All positive results were retained at 5-month follow-up. Conclusions:: Findings indicate that the peer-based programme AR can play an important role in promoting physical independence, wheelchair mobility and injury-management self-efficacy in community-dwelling individuals with SCI in Botswana.
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| 9. |
- Divanoglou, Anestis, et al.
(författare)
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INTERnational Project for the Evaluation of "activE Rehabilitation" (inter-PEER) - A protocol for a prospective cohort study of community peer-based training programmes for people with spinal cord injury
- 2020
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Ingår i: BMC Neurology. - : Springer Science and Business Media LLC. - 1471-2377. ; 20:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: Active Rehabilitation (AR) is a community peer-based concept for people with spinal cord injury (SCI) that is primarily delivered through brief residential training programmes. Despite a plethora of positive anecdotal evidence of AR programmes as life-changing experiences, the effects of AR-programmes have not been evaluated scientifically. Here, we present the protocol of the INTERnational Project for the Evaluation of "activE Rehabilitation" (inter-PEER) aiming to evaluate the effects of AR training programmes on community-dwelling individuals with SCI. Methods: International prospective cohort study that recruits consecutive participants in AR training programmes. Evaluation is conducted through a web-based survey at 3 time-points: at the commencement and completion of the training programme, and 3 months after the end of the training programme. Evaluation also includes a practical wheelchair skills test at the first two time-points. The primary outcome measures are the Spinal Cord Independence Measure Self-report (SCIM-SR), the Queensland Evaluation of Wheelchair Skills test (QEWS), the Wheelchair Skills Test Questionnaire (WST-Q) and the Moorong Self-Efficacy Scale (MSES). The secondary outcome measures are the 11-item Life Satisfaction Questionnaire (LiSat-11), the Utrecht Scale for Evaluation of Rehabilitation-Participation (USER-Participation), the Leisure Time Physical Activity Questionnaire for people with SCI (LTPAQ-SCI) and the 10-item Connor-Davidson Resilience Scale (CD-RISC-10). We piloted the implementation of the protocol in Sweden in 7 participants with diverse SCI and sociodemographic characteristics and collected feedback from participants and peer-mentors about study procedures through interviews, a workshop and field observations. Discussion: Inter-PEER is the first initiative to propose a systematic evaluation of the effects of AR training programmes among individuals with SCI. The project is a collaborative work of multiple stakeholders, including researchers, clinicians, peer mentors with SCI, and administrators of organisations providing AR programmes. The inter-PEER uses standardised outcome measures relevant to the AR context, it will facilitate quality evaluations of community peer-based programmes, stimulate international collaborations, and inform the design of randomised controlled trials on the effects of AR training programmes.
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| 10. |
- Eriksson, Daniel, et al.
(författare)
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GWAS for autoimmune Addison’s disease identifies multiple risk loci and highlights AIRE in disease susceptibility
- 2021
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Ingår i: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- Autoimmune Addison's disease (AAD) is characterized by the autoimmune destruction of the adrenal cortex. Low prevalence and complex inheritance have long hindered successful genetic studies. We here report the first genome-wide association study on AAD, which identifies nine independent risk loci (P < 5 × 10-8). In addition to loci implicated in lymphocyte function and development shared with other autoimmune diseases such as HLA, BACH2, PTPN22 and CTLA4, we associate two protein-coding alterations in Autoimmune Regulator (AIRE) with AAD. The strongest, p.R471C (rs74203920, OR = 3.4 (2.7-4.3), P = 9.0 × 10-25) introduces an additional cysteine residue in the zinc-finger motif of the second PHD domain of the AIRE protein. This unbiased elucidation of the genetic contribution to development of AAD points to the importance of central immunological tolerance, and explains 35-41% of heritability (h2).
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