| 1. |
- Kanai, M, et al.
(författare)
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- 2023
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swepub:Mat__t
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| 2. |
- Niemi, MEK, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 3. |
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| 4. |
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| 6. |
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| 7. |
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| 8. |
- Akbarian, S, et al.
(författare)
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The PsychENCODE project
- 2015
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Ingår i: Nature neuroscience. - : Springer Science and Business Media LLC. - 1546-1726 .- 1097-6256. ; 18:12, s. 1707-1712
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Tidskriftsartikel (refereegranskat)
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| 9. |
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| 10. |
- Cozen, W., et al.
(författare)
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A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus
- 2014
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 5, s. 3856-
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Tidskriftsartikel (refereegranskat)abstract
- Recent genome-wide association studies (GWAS) of Hodgkin lymphoma (HL) have identified associations with genetic variation at both HLA and non-HLA loci; however, much of heritable HL susceptibility remains unexplained. Here we perform a meta-analysis of three HL GWAS totaling 1,816 cases and 7,877 controls followed by replication in an independent set of 1,281 cases and 3,218 controls to find novel risk loci. We identify a novel variant at 19p13.3 associated with HL (rs1860661; odds ratio (OR) = 0.81, 95% confidence interval (95% CI) = 0.76-0.86, P-combined 3.5 x 10(-10)), located in intron 2 of TCF3 (also known as E2A), a regulator of B-and T-cell lineage commitment known to be involved in HL pathogenesis. This meta-analysis also notes associations between previously published loci at 2p16, 5q31, 6p31, 8q24 and 10p14 and HL subtypes. We conclude that our data suggest a link between the 19p13.3 locus, including TCF3, and HL risk.
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| 11. |
- Jones, Benedict C, et al.
(författare)
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To which world regions does the valence-dominance model of social perception apply?
- 2021
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Ingår i: Nature Human Behaviour. - : Springer Science and Business Media LLC. - 2397-3374. ; 5:1, s. 159-169
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Tidskriftsartikel (refereegranskat)abstract
- Over the past 10 years, Oosterhof and Todorov's valence-dominance model has emerged as the most prominent account of how people evaluate faces on social dimensions. In this model, two dimensions (valence and dominance) underpin social judgements of faces. Because this model has primarily been developed and tested in Western regions, it is unclear whether these findings apply to other regions. We addressed this question by replicating Oosterhof and Todorov's methodology across 11 world regions, 41 countries and 11,570 participants. When we used Oosterhof and Todorov's original analysis strategy, the valence-dominance model generalized across regions. When we used an alternative methodology to allow for correlated dimensions, we observed much less generalization. Collectively, these results suggest that, while the valence-dominance model generalizes very well across regions when dimensions are forced to be orthogonal, regional differences are revealed when we use different extraction methods and correlate and rotate the dimension reduction solution. PROTOCOL REGISTRATION: The stage 1 protocol for this Registered Report was accepted in principle on 5 November 2018. The protocol, as accepted by the journal, can be found at https://doi.org/10.6084/m9.figshare.7611443.v1 .
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| 12. |
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| 16. |
- Chen, Zhishan, et al.
(författare)
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Fine-mapping analysis including over 254 000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes
- 2024
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Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 15:1
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have identified more than 200 common genetic variants independently associated with colorectal cancer (CRC) risk, but the causal variants and target genes are mostly unknown. We sought to fine-map all known CRC risk loci using GWAS data from 100,204 cases and 154,587 controls of East Asian and European ancestry. Our stepwise conditional analyses revealed 238 independent association signals of CRC risk, each with a set of credible causal variants (CCVs), of which 28 signals had a single CCV. Our cis-eQTL/mQTL and colocalization analyses using colorectal tissue-specific transcriptome and methylome data separately from 1299 and 321 individuals, along with functional genomic investigation, uncovered 136 putative CRC susceptibility genes, including 56 genes not previously reported. Analyses of single-cell RNA-seq data from colorectal tissues revealed 17 putative CRC susceptibility genes with distinct expression patterns in specific cell types. Analyses of whole exome sequencing data provided additional support for several target genes identified in this study as CRC susceptibility genes. Enrichment analyses of the 136 genes uncover pathways not previously linked to CRC risk. Our study substantially expanded association signals for CRC and provided additional insight into the biological mechanisms underlying CRC development.
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| 17. |
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| 18. |
- Schmit, Stephanie L, et al.
(författare)
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Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
- 2019
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Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 0027-8874 .- 1460-2105. ; 111:2, s. 146-157
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Tidskriftsartikel (refereegranskat)abstract
- Background: Previous genome-wide association studies (GWAS) have identified 42 loci (P < 5 × 10-8) associated with risk of colorectal cancer (CRC). Expanded consortium efforts facilitating the discovery of additional susceptibility loci may capture unexplained familial risk.Methods: We conducted a GWAS in European descent CRC cases and control subjects using a discovery-replication design, followed by examination of novel findings in a multiethnic sample (cumulative n = 163 315). In the discovery stage (36 948 case subjects/30 864 control subjects), we identified genetic variants with a minor allele frequency of 1% or greater associated with risk of CRC using logistic regression followed by a fixed-effects inverse variance weighted meta-analysis. All novel independent variants reaching genome-wide statistical significance (two-sided P < 5 × 10-8) were tested for replication in separate European ancestry samples (12 952 case subjects/48 383 control subjects). Next, we examined the generalizability of discovered variants in East Asians, African Americans, and Hispanics (12 085 case subjects/22 083 control subjects). Finally, we examined the contributions of novel risk variants to familial relative risk and examined the prediction capabilities of a polygenic risk score. All statistical tests were two-sided.Results: The discovery GWAS identified 11 variants associated with CRC at P < 5 × 10-8, of which nine (at 4q22.2/5p15.33/5p13.1/6p21.31/6p12.1/10q11.23/12q24.21/16q24.1/20q13.13) independently replicated at a P value of less than .05. Multiethnic follow-up supported the generalizability of discovery findings. These results demonstrated a 14.7% increase in familial relative risk explained by common risk alleles from 10.3% (95% confidence interval [CI] = 7.9% to 13.7%; known variants) to 11.9% (95% CI = 9.2% to 15.5%; known and novel variants). A polygenic risk score identified 4.3% of the population at an odds ratio for developing CRC of at least 2.0.Conclusions: This study provides insight into the architecture of common genetic variation contributing to CRC etiology and improves risk prediction for individualized screening.
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| 19. |
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| 20. |
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| 21. |
- Balliu, Enkeleda, PhD student, et al.
(författare)
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Compact single-frequency mopa using a silica fiber highly doped with yb3
- 2021
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Ingår i: Applied Sciences. - : MDPI AG. - 2076-3417. ; 11:21
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Tidskriftsartikel (refereegranskat)abstract
- We report on a single-frequency fiber master oscillator power amplifier utilizing a polarization-maintaining step-index fiber with an Al/Ce/F core-glass composition doped with a very high Yb concentration (0.25 at.%). This design made it possible to use a very short fiber (~1 m) and to coil it in a tight radius (4 cm in the amplifier, while 2 cm gave similarly negligible bending loss) so that the packaged system is one of the most compact reported to date (~0.6 L). The use of a short fiber increased the threshold for stimulated Brillouin scattering well above 100 W while maintaining near-ideal beam quality. The fiber was pumped with a diode-pumped solid-state laser and cooled passively by spooling it on a grooved aluminum mandrel. The amplifier produced a strongly linearly polarized output at 1064 nm in the fundamental mode (M2 ≤ 1.2) with a 150 kHz linewidth and a power of 81.5 W for 107 W of launched pump power. No deleterious effects from the elevated thermal load were observed. The residual photodarkening loss resulting from the high Yb concentration, found to be small (~0.7 dB/m inferred at 1064 nm) with accelerated aging, reduced the output power by only ~20% after 150 h of operation.
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| 22. |
- Byass, Peter, et al.
(författare)
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The long road to elimination : malaria mortality in a South African population cohort over 21 years
- 2017
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Ingår i: Global Health, Epidemiology and Genomics. - : Cambridge University Press. - 2054-4200. ; 2
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Tidskriftsartikel (refereegranskat)abstract
- Background: Malaria elimination is on global agendas following successful transmission reductions. Nevertheless moving from low to zero transmission is challenging. South Africa has an elimination target of 2018, which may or may not be realised in its hypoendemic areas.Methods: The Agincourt Health and Demographic Surveillance System has monitored population health in north-eastern South Africa since 1992. Malaria deaths were analysed against individual factors, socioeconomic status, labour migration and weather over a 21-year period, eliciting trends over time and associations with covariates.Results: Of 13 251 registered deaths over 1.58 million person-years, 1.2% were attributed to malaria. Malaria mortality rates increased from 1992 to 2013, while mean daily maximum temperature rose by 1.5 °C. Travel to endemic Mozambique became easier, and malaria mortality increased in higher socioeconomic groups. Overall, malaria mortality was significantly associated with age, socioeconomic status, labour migration and employment, yearly rainfall and higher rainfall/temperature shortly before death.Conclusions: Malaria persists as a small but important cause of death in this semi-rural South African population. Detailed longitudinal population data were crucial for these analyses. The findings highlight practical political, socioeconomic and environmental difficulties that may also be encountered elsewhere in moving from low-transmission scenarios to malaria elimination.
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| 23. |
- Coetzee, Riaan S., et al.
(författare)
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Investigations of Laser Induced Damage in KTiOPO4 and Rb:KTiOPO4 at 1 mu m and 2 mu m
- 2015
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Ingår i: PACIFIC RIM LASER DAMAGE 2015. - : SPIE. - 9781628416978
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Konferensbidrag (refereegranskat)abstract
- One of the most practical means of generating tunable mid-infrared output is by using cascaded parametric down-conversion from 1 mu m, where efficient and reliable high-energy nanosecond lasers are well established. The overall efficiency of the cascade relies heavily on the efficiency of the first down-conversion stage where it is beneficial to employ quasi-phase matched crystals such as periodically-poled Rb: KTiOPO4 (PPRKTP). Ultimately, the pulse energy at 2 mu m and the optimum design of the first cascade will depend on the maximum intensity which could be safely applied to these crystals and therefore these schemes mandate investigation of nanosecond laser-induced damage threshold in KTiOPO4 (KTP) and Rb:KTiOPO4 (RKTP) at 1.064 mu m and 2 mu m. In the context of high-energy systems, where the beams are at most loosely focused, the limiting energy fluence will be determined by the laser induced damage threshold (LIDT) of the bare surface. Therefore the LIDT of the bare surface is the lowest LIDT which has to be taken into account in design of robust 2 mu m parametric systems. We report surface LIDT measurements in KTP and RKTP with nanosecond pulses at 1.064 mu m and 2.1 mu m. We find that the reported LIDT for the bulk is far higher than that of the surface and therefore is unsuitable as a guide for the 2 mu m parametric system designs. LIDT values for KTP and RKTP with nanosecond pulses at 2 mu m have not been reported so far to the best of our knowledge.
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| 24. |
- Coetzee, Riaan S., et al.
(författare)
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Laser induced damage thresholds of KTiOPO4 and Rb:KTiOPO4 at 1 μm and 2 μm
- 2015
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Ingår i: Conference on Lasers and Electro-Optics Europe - Technical Digest. - : IEEE conference proceedings. - 9781557529688
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Konferensbidrag (refereegranskat)abstract
- Optimum design of high-energy parametric down-conversion schemes mandate investigation of nanosecond laser-induced damage threshold in KTiOPO4 and Rb:KTiOPO4 at 1.064 μm and 2 μm. A surface damage threshold of 10 J/cm2 at 2 μm was determined for both materials.
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| 25. |
- De Neve, Jan-Walter, et al.
(författare)
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Antiretroviral therapy coverage associated with increased co-residence between older and working-age adults in Africa
- 2018
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Ingår i: AIDS. - 1473-5571. ; 32:14, s. 2051-2057
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: To determine whether national antiretroviral therapy (ART) coverage is associated with changes in the living arrangements of older adults.DESIGN: Retrospective analysis using 103 nationally representative surveys from 28 African countries between 1991 and 2015.METHODS: The sample consisted of individuals aged at least 60 years. We investigated how three measures of living arrangements of older adults have changed with ART coverage: the number of older individuals living without working-age adults, the number of older individuals living with only dependent children (i.e. 'missing generation' households), and the number of working-age adults per household where an older individual lives.RESULTS: Our sample consisted of 297 331 older adults. An increase in ART coverage of 1% was associated with a 0.7 percentage point reduction (P < 0.001) in the probability of an older adult living without working-age adult and a 0.2 percentage point reduction (P = 0.005) in the probability of an older adult living in a 'missing generation' household. Increases in ART coverage were also associated with more working-age adults in households with at least one older adult. In our study countries, representing 75% (749 million) of the sub-Saharan population, an additional 103 000-358 000 older adults could be living with working-age adults as a result of increased ART coverage (1%).CONCLUSION: The scale-up of ART has likely led to substantial increases in co-residence between older and working-age adults in Africa. Returns to investments in HIV treatment will be too low, if the social benefits from these changes in living arrangements of older adults are not taken into account.
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| 26. |
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| 27. |
- Fortes-Lima, Cesar A., PhD, 1985-, et al.
(författare)
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Population structure and admixture during the expansion of Bantu-speaking peoples across sub-Saharan Africa
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- The migration of Bantu-speaking groups out of West Africa, thought to have started around 4 000 years ago, is known as the Bantu expansion. This movement of people changed the genetic landscape of sub-equatorial Africa. To investigate the demographic history and population structure in Bantu-speaking populations (BSP), we genotyped 1,740 individuals, including 1,487 Bantu speakers from 143 populations across 13 sub-Saharan African countries. We find patterns of fine-scale population structure that correlate with linguistics and geography. Bantu speakers received significant amounts of admixture through interaction with local groups from the regions that they expanded into. Spatial modeling indicated possible migration corridors during the Bantu-expansion. Inferences based on modern-day genomes, however, need to be supported by ancient DNA studies. We demonstrated the utility of our dataset as an exhaustive modern-day African comparative dataset for ancient DNA studies by comparing our data to published aDNA studies. By gathering the largest set of genome-wide data to date, enriched with new data from previously unsampled regions and people, we shed new light on the intricacies of the Bantu expansion.
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| 28. |
- Fortes-Lima, Cesar A., PhD, 1985-, et al.
(författare)
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The genetic legacy of the expansion of Bantu-speaking peoples in Africa
- 2024
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Ingår i: Nature. - : Springer Nature. - 0028-0836 .- 1476-4687. ; 625:7995, s. 540-547
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Tidskriftsartikel (refereegranskat)abstract
- The expansion of people speaking Bantu languages is the most dramatic demographic event in Late Holocene Africa and fundamentally reshaped the linguistic, cultural and biological landscape of the continent1-7. With a comprehensive genomic dataset, including newly generated data of modern-day and ancient DNA from previously unsampled regions in Africa, we contribute insights into this expansion that started 6,000-4,000 years ago in western Africa. We genotyped 1,763 participants, including 1,526 Bantu speakers from 147 populations across 14 African countries, and generated whole-genome sequences from 12 Late Iron Age individuals8. We show that genetic diversity amongst Bantu-speaking populations declines with distance from western Africa, with current-day Zambia and the Democratic Republic of Congo as possible crossroads of interaction. Using spatially explicit methods9 and correlating genetic, linguistic and geographical data, we provide cross-disciplinary support for a serial-founder migration model. We further show that Bantu speakers received significant gene flow from local groups in regions they expanded into. Our genetic dataset provides an exhaustive modern-day African comparative dataset for ancient DNA studies10 and will be important to a wide range of disciplines from science and humanities, as well as to the medical sector studying human genetic variation and health in African and African-descendant populations.
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| 29. |
- Hamann, M., et al.
(författare)
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Scenarios of Good Anthropocenes in southern Africa
- 2020
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Ingår i: Futures. - : Elsevier BV. - 0016-3287 .- 1873-6378. ; 118
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Tidskriftsartikel (refereegranskat)abstract
- In the rapidly changing and uncertain world of the Anthropocene, positive visions of the future could play a crucial role in catalysing deep social-ecological transformations to help guide humanity towards more sustainable and equitable futures. This paper presents the outcomes from a novel visioning process designed to elicit creative and inspirational future scenarios for southern Africa. The approach based scenario development on seeds of good Anthropocenes, i.e. existing initiatives or technologies that represent current, local-scale innovations for sustainability. A selection of seeds was used to create four distinct, positive visions in a participatory workshop process. Common themes that independently emerged in all four visions were i) decentralized governance and decision-making; ii) a strong emphasis on equity and empathy; iii) high levels of connectedness between people; and iv) a reinforced, respectful relationship with nature. The visions mainly differ in the extent of fusion between people and technology in everyday life, and how much nature plays a role in defining the human experience. The narratives presented here describe worlds that have undergone a more significant paradigm shift towards shared human values and stewardship of resources than is explored in most other ambient narratives for the region. These Good Anthropocene scenarios therefore demonstrate more radical, previously unimagined ways of thinking about sustainability futures on the African continent and beyond.
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| 30. |
- Hough, Christina M, et al.
(författare)
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Leukocyte telomere length predicts SSRI response in major depressive disorder : A preliminary report
- 2016
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Ingår i: Molecular Neuropsychiatry. - : S. Karger AG. - 2296-9209. ; :2, s. 88-96
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Tidskriftsartikel (refereegranskat)abstract
- Short leukocyte telomere length (LTL) may be associated with several psychiatric disorders, including major depressive disorder (MDD). Short LTL has previously been associated with poor response to psychiatric medications in bipolar disorder and schizophrenia, but no studies have prospectively assessed the relationship of LTL to SSRI response in MDD. We assessed pre-treatment LTL, depression severity (using the Hamilton Depression Rating Scale [HDRS]), and self-reported positive and negative affect in 27 healthy, unmedicated adults with MDD. Subjects then underwent open-label treatment with a selective serotonin reuptake inhibitor (SSRI) antidepressant for eight weeks, after which clinical ratings were repeated. Analyses were corrected for age, sex and BMI. "Non-responders" to treatment (HDRS improvement <50%) had significantly shorter pre-treatment LTL, compared to "Responders" (p=0.037). Further, shorter pre-treatment LTL was associated with less improvement in negative affect (p<0.010) but not with changes in positive affect (p=0.356). This preliminary study is the first to assess the relationship between LTL and SSRI response in MDD and among the first to prospectively assess its relationship to treatment outcome in any psychiatric illness. Our data suggest that short LTL may serve as a vulnerability index of poorer response to SSRI treatment, but this needs examination in larger samples.
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| 31. |
- Jung, Christian, et al.
(författare)
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A comparison of very old patients admitted to intensive care unit after acute versus elective surgery or intervention
- 2019
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Ingår i: Journal of critical care. - : W B SAUNDERS CO-ELSEVIER INC. - 0883-9441 .- 1557-8615. ; 52, s. 141-148
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Tidskriftsartikel (refereegranskat)abstract
- Background: We aimed to evaluate differences in outcome between patients admitted to intensive care unit (ICU) after elective versus acute surgery in a multinational cohort of very old patients (80 years; VIP). Predictors of mortality, with special emphasis on frailty, were assessed.Methods: In total, 5063 VIPs were induded in this analysis, 922 were admitted after elective surgery or intervention, 4141 acutely, with 402 after acute surgery. Differences were calculated using Mann-Whitney-U test and Wilcoxon test. Univariate and multivariable logistic regression were used to assess associations with mortality.Results: Compared patients admitted after acute surgery, patients admitted after elective surgery suffered less often from frailty as defined as CFS (28% vs 46%; p < 0.001), evidenced lower SOFA scores (4 +/- 5 vs 7 +/- 7; p < 0.001). Presence of frailty (CFS >4) was associated with significantly increased mortality both in elective surgery patients (7% vs 12%; p = 0.01), in acute surgery (7% vs 12%; p = 0.02).Conclusions: VIPs admitted to ICU after elective surgery evidenced favorable outcome over patients after acute surgery even after correction for relevant confounders. Frailty might be used to guide clinicians in risk stratification in both patients admitted after elective and acute surgery.
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| 33. |
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