| 1. |
- Kalman, Janos L, et al.
(författare)
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Investigating polygenic burden in age at disease onset in bipolar disorder: Findings from an international multicentric study.
- 2019
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Ingår i: Bipolar disorders. - : Wiley. - 1399-5618 .- 1398-5647. ; 21:1, s. 68-75
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Tidskriftsartikel (refereegranskat)abstract
- Bipolar disorder (BD) with early disease onset is associated with an unfavorable clinical outcome and constitutes a clinically and biologically homogenous subgroup within the heterogeneous BD spectrum. Previous studies have found an accumulation of early age at onset (AAO) in BD families and have therefore hypothesized that there is a larger genetic contribution to the early-onset cases than to late onset BD. To investigate the genetic background of this subphenotype, we evaluated whether an increased polygenic burden of BD- and schizophrenia (SCZ)-associated risk variants is associated with an earlier AAO in BD patients.A total of 1995 BD type 1 patients from the Consortium of Lithium Genetics (ConLiGen), PsyCourse and Bonn-Mannheim samples were genotyped and their BD and SCZ polygenic risk scores (PRSs) were calculated using the summary statistics of the Psychiatric Genomics Consortium as a training data set. AAO was either separated into onset groups of clinical interest (childhood and adolescence [≤18years] vs adulthood [>18years]) or considered as a continuous measure. The associations between BD- and SCZ-PRSs and AAO were evaluated with regression models.BD- and SCZ-PRSs were not significantly associated with age at disease onset. Results remained the same when analyses were stratified by site of recruitment.The current study is the largest conducted so far to investigate the association between the cumulative BD and SCZ polygenic risk and AAO in BD patients. The reported negative results suggest that such a polygenic influence, if there is any, is not large, and highlight the importance of conducting further, larger scale studies to obtain more information on the genetic architecture of this clinically relevant phenotype.
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| 2. |
- Amare, Azmeraw, et al.
(författare)
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Association of Polygenic Score and the involvement of Cholinergic and Glutamatergic Pathways with Lithium Treatment Response in Patients with Bipolar Disorder.
- 2023
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Ingår i: Research square. - : Research Square Platform LLC.
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Tidskriftsartikel (refereegranskat)abstract
- Lithium is regarded as the first-line treatment for bipolar disorder (BD), a severe and disabling mental disorder that affects about 1% of the population worldwide. Nevertheless, lithium is not consistently effective, with only 30% of patients showing a favorable response to treatment. To provide personalized treatment options for bipolar patients, it is essential to identify prediction biomarkers such as polygenic scores. In this study, we developed a polygenic score for lithium treatment response (Li+PGS) in patients with BD. To gain further insights into lithium's possible molecular mechanism of action, we performed a genome-wide gene-based analysis. Using polygenic score modeling, via methods incorporating Bayesian regression and continuous shrinkage priors, Li+PGS was developed in the International Consortium of Lithium Genetics cohort (ConLi+Gen: N=2,367) and replicated in the combined PsyCourse (N=89) and BipoLife (N=102) studies. The associations of Li+PGS and lithium treatment response - defined in a continuous ALDA scale and a categorical outcome (good response vs. poor response) were tested using regression models, each adjusted for the covariates: age, sex, and the first four genetic principal components. Statistical significance was determined at P<����������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������������.
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| 3. |
- Amare, Azmeraw T, et al.
(författare)
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Association of polygenic score and the involvement of cholinergic and glutamatergic pathways with lithium treatment response in patients with bipolar disorder.
- 2023
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Ingår i: Molecular psychiatry. - 1476-5578. ; 28, s. 5251-5261
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Tidskriftsartikel (refereegranskat)abstract
- Lithium is regarded as the first-line treatment for bipolar disorder (BD), a severe and disabling mental healthdisorder that affects about 1% of the population worldwide. Nevertheless, lithium is not consistently effective, with only 30% of patients showing a favorable response to treatment. To provide personalized treatment options for bipolar patients, it is essential to identify prediction biomarkers such as polygenic scores. In this study, we developed a polygenic score for lithium treatment response (Li+PGS) in patients with BD. To gain further insights into lithium's possible molecular mechanism of action, we performed a genome-wide gene-based analysis. Using polygenic score modeling, via methods incorporating Bayesian regression and continuous shrinkage priors, Li+PGS was developed in the International Consortium of Lithium Genetics cohort (ConLi+Gen: N=2367) and replicated in the combined PsyCourse (N=89) and BipoLife (N=102) studies. The associations of Li+PGS and lithium treatment response - defined in a continuous ALDA scale and a categorical outcome (good response vs. poor response) were tested using regression models, each adjusted for the covariates: age, sex, and the first four genetic principal components. Statistical significance was determined at P<0.05. Li+PGS was positively associated with lithium treatment response in the ConLi+Gen cohort, in both the categorical (P=9.8×10-12, R2=1.9%) and continuous (P=6.4×10-9, R2=2.6%) outcomes. Compared to bipolar patients in the 1st decile of the risk distribution, individuals in the 10th decile had 3.47-fold (95%CI: 2.22-5.47) higher odds of responding favorably to lithium. The results were replicated in the independent cohorts for the categorical treatment outcome (P=3.9×10-4, R2=0.9%), but not for the continuous outcome (P=0.13). Gene-based analyses revealed 36 candidate genes that are enriched in biological pathways controlled by glutamate and acetylcholine. Li+PGS may be useful in the development of pharmacogenomic testing strategies by enabling a classification of bipolar patients according to their response to treatment.
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| 4. |
- 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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| 5. |
- Sloot, Frea, et al.
(författare)
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Inventory of current EU paediatric vision and hearing screening programmes
- 2015
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Ingår i: Journal of Medical Screening. - : SAGE Publications. - 0969-1413 .- 1475-5793. ; 22:2, s. 55-64
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To examine the diversity in paediatric vision and hearing screening programmes in Europe. Methods: Themes for comparison of screening programmes derived from literature were used to compile three questionnaires on vision, hearing, and public health screening. Tests used, professions involved, age, and frequency of testing seem to influence sensitivity, specificity, and costs most. Questionnaires were sent to ophthalmologists, orthoptists, otolaryngologists, and audiologists involved in paediatric screening in all EU full-member, candidate, and associate states. Answers were cross-checked. Results: Thirty-nine countries participated; 35 have a vision screening programme, 33 a nation-wide neonatal hearing screening programme. Visual acuity (VA) is measured in 35 countries, in 71% of these more than once. First measurement of VA varies from three to seven years of age, but is usually before age five. At age three and four, picture charts, including Lea Hyvarinen, are used most; in children over four, Tumbling-E and Snellen. As first hearing screening test, otoacoustic emission is used most in healthy neonates, and auditory brainstem response in premature newborns. The majority of hearing testing programmes are staged; children are referred after 1–4 abnormal tests. Vision screening is performed mostly by paediatricians, ophthalmologists, or nurses. Funding is mostly by health insurance or state. Coverage was reported as >95% in half of countries, but reporting was often not first-hand. Conclusion: Largest differences were found in VA charts used (12), professions involved in vision screening (10), number of hearing screening tests before referral (1–4), and funding sources (8).
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| 6. |
- Bott, Lukas Thomas, et al.
(författare)
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Coulomb dissociation of O-16 into He-4 and C-12
- 2023
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Ingår i: NUCLEAR PHYSICS IN ASTROPHYSICS - X, NPA-X 2022. - : EDP Sciences. - 2100-014X. ; 279
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Konferensbidrag (refereegranskat)abstract
- We measured the Coulomb dissociation of O-16 into He-4 and C-12 within the FAIR Phase-0 program at GSI Helmholtzzentrum fur Schwerionenforschung Darmstadt, Germany. From this we will extract the photon dissociation cross section O-16(alpha,gamma)C-12, which is the time reversed reaction to C-12(alpha,gamma)O-16. With this indirect method, we aim to improve on the accuracy of the experimental data at lower energies than measured so far. The expected low cross section for the Coulomb dissociation reaction and close magnetic rigidity of beam and fragments demand a high precision measurement. Hence, new detector systems were built and radical changes to the (RB)-B-3 setup were necessary to cope with the high-intensity O-16 beam. All tracking detectors were designed to let the unreacted O-16 ions pass, while detecting the C-12 and He-4.
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| 7. |
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| 8. |
- Carlsson Reich, Marcus, et al.
(författare)
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Ethical Investments - Towards a Sound Theory and Screening Methodology
- 2001
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- This study aims to test and develop methods for environmental and social screening of companies in order to support informed investment decisions. Among others the report deals with the following questions: * What are the characteristics of current ethical screening methods? * What steps and criteria should be included in an ethical screening? * What are advantages/disadvantages of intuitive methods versus analytic methods? * How should gathered information be evaluated? * Does social screening differ from environmental screening? The available literature on ethical screening and decision making has been evaluated. Also, the current screening practices in Sweden and elsewhere were mapped and analysed. Subsequently a flowchart for ethical screening was developed and the method was tested in three case studies. The overall conclusion of the study is that it is both common and motivated that different objectives are used for ethical screening. These different objectives lead to different preferences regarding methods for screening. But to conduct a more elaborate screening, competence concerning companies' ethical practices and the capital market is essential. We acknowledge that intuitive and informal steps always will be present in a screening process. But, to ensure comparability, we believe it is crucial that the overall approach is analytic, formalised, and transparent
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| 9. |
- Finnveden, Göran, et al.
(författare)
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Robusta och flexibla strategier för utnyttjande av energi ur avfall
- 2005
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Avfallsfrågor engagerar. Det är någonting som berör människor i deras vardag och det är kanske ett skäl till att vi då och då får uppblossande debatter om hur vi ska hantera avfall. Beslut och investeringar inom avfallsområdet kan få långsiktiga konsekvenser. En avfallsförbränningspanna är exempelvis en stor och långsiktig investering. Samtidigt lever vi i en föränderlig värld. Avfallspolitiken har förändrats både i Sverige och internationellt och man kan förvänta sig fortsatta förändringar. Kombinationen av långsiktiga beslut med en osäker framtid och det engagemang som finns kring avfallsfrågor, gör det intressant att söka lösningar som är flexibla och robusta. Med flexibla menar vi att de bör kunna anpassas efter eventuella förändringar i omgivningen så att man inte bygger in sig i återvändsgränder. Med robusta menar vi dels att lösningarna och strategierna ska vara någorlunda bra i olika tänkbara framtidsscenarier, dels att de är någorlunda bra både med avseende på miljöfaktorer, ekonomiska aspekter och att det finns en social acceptans för dem. En utgångspunkt är alltså att lösningar som bara uppfyller kraven för en eller ett par av dessa dimensioner inte är intressanta. Den här rapporten har som syfte att sammanfatta och syntetisera resultaten från ett flerårigt projekt finansierat av Energimyndigheten. Syftet med projektet var att diskutera och föreslå flexibla och robusta strategier för utnyttjande av energi ur avfall.I rapporten görs en genomgång av ett antal olika studier där man har jämfört återvinning med förbränning, biologisk behandling och deponering. Jämförelserna görs med avseende på miljöegenskaper samt ekonomi. Vidare redovisas en genomgång av beteendevetenskapliga studier. Bland slutsatserna finns att en robust avfallsstrategi bör innehålla dessa komponenter:en ökning av materialåtervinning exempelvis av plaster, papper, metaller och glasförbränning av sådant som kan klassas som biobränslenförbränningsanläggningar bör vara utrustade för kraftvärme och för att kunna ta emot en varierad blandning av fasta bränslendeponering av avfall som ej kan behandlas på annat sätt och möjligen av svårnedbrytbara plasterrötning av vissa väldefinierade fraktionerlättillgänglig källsortering hos konsumenterökad källsortering i näringslivet Inom avfallsområdet finns det ett antal olika styrmedel.Samtidigt kan man notera att det finns luckor i styrmedelspaketen. Förutom producentansvaret finns exempelvis inga styrmedel som styr mot ökad återvinning av material. Vidare finns det få styrmedel som tydligt styr mot minskade avfallsmängder. Det finns därför ett behov av nytänkande inom styrmedelsområdet. En kombination av ekonomiska styrmedel som styr mot uppsatta miljömål skulle sammanfattningsvis kunna vara:En förbränningsskatt som jämställer beskattningen av de fossila delarna av avfall med andra fossila bränslen och som ger undantag för avfall med biologiskt ursprung.En viktsbaserad förbränningsskatt som styr mot ökad återvinning av papper samt biologisk behandling.En motsvarande ökning av deponiskatten.Ett stöd till biogasanvändning.För att öka källsorteringen bör de ekonomiska styrmedlena slå igenom även hos konsumenterna. Man bör dock inte bara använda ekonomiska styrmedel utan även arbeta med information, stödjande fysiska strukturer (exempelvis fastighetsnära insamlingssystem) samt 4utforska olika typer av positiva styrmedel t.ex. olika former av bonus- eller återbäringssystem. Styrmedel behöver också riktas mot olika delar av näringslivet för att stimulera deras källsortering.
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| 10. |
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