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| 2. |
- Liu, DJ, et al.
(författare)
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Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations
- 2023
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 55:3, s. 369-
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Tidskriftsartikel (refereegranskat)abstract
- Schizophrenia (SCZ) is a chronic mental illness and among the most debilitating conditions encountered in medical practice. A recent landmark SCZ study of the protein-coding regions of the genome identified a causal role for ten genes and a concentration of rare variant signals in evolutionarily constrained genes1. This recent study—and most other large-scale human genetics studies—was mainly composed of individuals of European (EUR) ancestry, and the generalizability of the findings in non-EUR populations remains unclear. To address this gap, we designed a custom sequencing panel of 161 genes selected based on the current knowledge of SCZ genetics and sequenced a new cohort of 11,580 SCZ cases and 10,555 controls of diverse ancestries. Replicating earlier work, we found that cases carried a significantly higher burden of rare protein-truncating variants (PTVs) among evolutionarily constrained genes (odds ratio = 1.48; P = 5.4 × 10−6). In meta-analyses with existing datasets totaling up to 35,828 cases and 107,877 controls, this excess burden was largely consistent across five ancestral populations. Two genes (SRRM2 and AKAP11) were newly implicated as SCZ risk genes, and one gene (PCLO) was identified as shared by individuals with SCZ and those with autism. Overall, our results lend robust support to the rare allelic spectrum of the genetic architecture of SCZ being conserved across diverse human populations.
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| 4. |
- Arof, A. K., et al.
(författare)
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Quasi solid state dye-sensitized solar cells based on polyvinyl alcohol (PVA) electrolytes containing redox couple
- 2014
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Ingår i: Optical and Quantum Electronics. - : Springer Science and Business Media LLC. - 0306-8919 .- 1572-817X. ; 46:1, s. 143-154
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Tidskriftsartikel (refereegranskat)abstract
- Quasi solid state dye-sensitized solar cells (DSSCs) have been fabricated with electrolytes containing I-/I-3(-) redox couple using 80% hydrolyzed polyvinyl alcohol (PVA) doped with potassium iodide (KI) and a mixture of potassium iodide and tetrapropyl ammonium iodide (Pr4NI) salts. The quasi solid state gel polymer electrolytes were prepared using 1: 1 ethylene carbonate (EC): propylene carbonate (PC) mixture. The solar cells have the structure of ITO/TiO2/N-3-Dye/electrolyte/Pt/ITO. The conductivity of the electrolytes has been calculated from the bulk resistance value determined using the electrochemical impedance spectroscopy. The performance of the DSSCs has been studied by varying the concentration of the doping salts in the electrolyte and incident light intensity. The DSSC fabricated with the KI salt electrolyte containing 9.9 wt% PVA, 39.6 wt% EC, 39.6 wt% PC, 10.9 wt% KI(+I-2) exhibited the best power conversion efficiency of 1.97 %. However, the DSSC with a double-salt electrolyte containing 9.9 wt% PVA: 39.6 wt% EC: 39.6 wt% PC: (6.5 wt% KI: 4.4 wt% Pr4NI) (+I-2) exhibited a higher efficiency of 3.27% under 100 mW/cm(2) light intensity. The efficiency of this cell increased to 4.59 % under dimmer light of intensity of 54 mW/cm(2).
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- Engelke, Ulrich, et al.
(författare)
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Psychophysiology-Based QoE Assessment : A Survey
- 2017
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Ingår i: IEEE Journal on Selected Topics in Signal Processing. - 1932-4553 .- 1941-0484. ; 11:1, s. 6-21
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Tidskriftsartikel (refereegranskat)abstract
- We present a survey of psychophysiology-based assessment for quality of experience (QoE) in advanced multimedia technologies. We provide a classification of methods relevant to QoE and describe related psychological processes, experimental design considerations, and signal analysis techniques. We summarize multimodal techniques and discuss several important aspects of psychophysiology-based QoE assessment, including the synergies with psychophysical assessment and the need for standardized experimental design. This survey is not considered to be exhaustive but serves as a guideline for those interested to further explore this emerging field of research.
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| 6. |
- Khan, H. R., et al.
(författare)
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Cross-cultural prevalence of sleep quality and psychological distress in healthcare workers during COVID-19 pandemic
- 2021
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Ingår i: Brain and Behavior. - : John Wiley & Sons. - 2162-3279 .- 2162-3279. ; 11:11
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Tidskriftsartikel (refereegranskat)abstract
- Background: Poor quality sleep and emotional disturbances are expected in times of crisis. COVID-19 has severely impacted healthcare worldwide and with that comes the concern about its effects on healthcare workers. The purpose of the present study was to assess sleep quality and psychological distress in healthcare workers during the COVID-19 pandemic.Methods: The present work is a multi-centric cross-sectional study targeting healthcare workers from India, Pakistan, and Nepal. It used an online version of the Pittsburg Sleep Quality Index and the General Health Questionnaire, and data were analyzed using SPSS V.24.Results: A total of 1790 participants completed the questionnaire. Of the 1790 participants, 57% reported poor sleep quality, and 10% reported a high level of psychological distress. A cross-cultural comparison found some differences between the different groups of participants. The details of the differences were further explored in the article.Conclusion: The present study highlights that a significant proportion of healthcare workers are affected by poor sleep quality and psychological distress during the COVID-19 pandemic. It also emphasizes the imperative to provide them with psychosocial support to avoid potential short- and long-term psychological consequences of these troubling times.
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| 8. |
- Naeem, Aishath, et al.
(författare)
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Pirtobrutinib targets BTK C481S in ibrutinib-resistant CLL but second-site BTK mutations lead to resistance
- 2023
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Ingår i: Blood Advances. - : American Society of Hematology. - 2473-9529 .- 2473-9537. ; 7:9, s. 1929-1943
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Tidskriftsartikel (refereegranskat)abstract
- Covalent inhibitors of Bruton tyrosine kinase (BTK) have transformed the therapy of chronic lymphocytic leukemia (CLL), but continuous therapy has been complicated by the development of resistance. The most common resistance mechanism in patients whose disease progresses on covalent BTK inhibitors (BTKis) is a mutation in the BTK 481 cysteine residue to which the inhibitors bind covalently. Pirtobrutinib is a highly selective, noncovalent BTKi with substantial clinical activity in patients whose disease has progressed on covalent BTKi, regardless of BTK mutation status. Using in vitro ibrutinib-resistant models and cells from patients with CLL, we show that pirtobrutinib potently inhibits BTK-mediated functions including B-cell receptor (BCR) signaling, cell viability, and CCL3/CCL4 chemokine production in both BTK wild-type and C481S mutant CLL cells. We demonstrate that primary CLL cells from responding patients on the pirtobrutinib trial show reduced BCR signaling, cell survival, and CCL3/CCL4 chemokine secretion. At time of progression, these primary CLL cells show increasing resistance to pirtobrutinib in signaling inhibition, cell viability, and cytokine production. We employed longitudinal whole-exome sequencing on 2 patients whose disease progressed on pirtobrutinib and identified selection of alternative-site BTK mutations, providing clinical evidence that secondary BTK mutations lead to resistance to noncovalent BTKis.
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| 9. |
- Sá, Jacinto, et al.
(författare)
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SpaciMS : spatial and temporal operando resolution of reactions within catalytic monoliths.
- 2010
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Ingår i: The Analyst. - : Royal Society of Chemistry (RSC). - 0003-2654 .- 1364-5528. ; 135:9, s. 2260-72
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Tidskriftsartikel (refereegranskat)abstract
- Monolithic catalysts are widely used as structured catalysts, especially in the abatement of pollutants. Probing what happens inside these monoliths during operation is, therefore, vital for modelling and prediction of the catalyst behavior. SpaciMS is a spatially resolved capillary-inlet mass spectroscopy system allowing for the generation of spatially resolved maps of the reactions within monoliths. In this study SpaciMS results combined with 3D CFD modelling demonstrate that SpaciMS is a highly sensitive and minimally invasive technique that can provide reaction maps as well as catalytic temporal behavior. Herein we illustrate this by examining kinetic oscillations during a CO oxidation reaction over a Pt/Rh on alumina catalyst supported on a cordierite monolith. These oscillations were only observed within the monolith by SpaciMS between 30 and 90% CO conversion. Equivalent experiments performed in a plug-flow reactor using this catalyst in a crushed form over a similar range of reaction conditions did not display any oscillations demonstrating the importance of intra monolith analysis. This work demonstrates that the SpaciMS offers an accurate and comprehensive picture of structured catalysts under operation.
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