| 1271. |
- Piscitelli, F., et al.
(författare)
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Characterization of the Multi-Blade 10B-based detector at the CRISP reflectometer at ISIS for neutron reflectometry at ESS
- 2018
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Ingår i: Journal of Instrumentation. - : IOP PUBLISHING LTD. - 1748-0221. ; 13:5
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Tidskriftsartikel (refereegranskat)abstract
- The Multi-Blade is a Boron-10-based gaseous thermal neutron detector developed to face the challenge arising in neutron reflectometry at neutron sources. Neutron reflectometers are challenging instruments in terms of instantaneous counting rate and spatial resolution. This detector has been designed according to the requirements given by the reflectometers at the European Spallation Source (ESS) in Sweden. The Multi-Blade has been installed and tested on the CRISP reflectometer at the ISIS neutron and muon source in U.K.. The results on the detailed detector characterization are discussed in this manuscript.
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| 1272. |
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| 1273. |
- Ponten, E, et al.
(författare)
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A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1
- 2022
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Ingår i: Journal of medical genetics. - : BMJ. - 1468-6244 .- 0022-2593. ; 59:2, s. 141-146
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Tidskriftsartikel (refereegranskat)abstract
- Germline pathogenic variants in DICER1 cause DICER1 syndrome, an autosomal dominant, pleiotropic tumour predisposition syndrome with variable expressivity and reduced penetrance for specific dysplastic and neoplastic lesions. Recently, a syndrome with the acronym GLOW (Global developmental delay, Lung cysts, Overgrowth, Wilms tumour) was described in two children with mosaic missense mutations in hotspot residues of the DICER1 RNase IIIb domain.MethodsWhole genome sequencing, exome sequencing, Sanger sequencing, digital PCR and a review of Wilms tumours with DICER1 RNase III domain mutations were performed.ResultsA de novo heterozygous c.4031C>T (p.S1344L) variant in the sequence encoding the RNase IIIa domain of DICER1 was detected. Clinical investigations revealed a phenotype that resembles the GLOW subphenotype of DICER1 syndrome.ConclusionThe phenotypic overlap between patients with p.S1344L mutation and GLOW syndrome provide clinical support for recent discoveries that RNase IIIa-Ser1344 site mutations impede miRNA-5p biogenesis analogous to DICER1 hotspot mutations in the RNase IIIb domain. We show that an individual with a heterozygous germline p.S1344L mutation has a severe form of DICER1 syndrome (‘DICER1 syndrome plus’), with notable features of intellectual disability, macrocephaly, physical abnormalities, Wilms tumour and a well-differentiated fetal adenocarcinoma of the lung.
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| 1274. |
- Popp, David, et al.
(författare)
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Flow-aligned, single-shot fiber diffraction using a femtosecond X-ray free-electron laser
- 2017
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Ingår i: CYTOSKELETON. - : WILEY. - 1949-3584 .- 1949-3592. ; 74:12, s. 472-481
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Tidskriftsartikel (refereegranskat)abstract
- A major goal for X-ray free-electron laser (XFEL) based science is to elucidate structures of biological molecules without the need for crystals. Filament systems may provide some of the first single macromolecular structures elucidated by XFEL radiation, since they contain one-dimensional translational symmetry and thereby occupy the diffraction intensity region between the extremes of crystals and single molecules. Here, we demonstrate flow alignment of as few as 100 filaments (Escherichia coli pili, F-actin, and amyloid fibrils), which when intersected by femtosecond X-ray pulses result in diffraction patterns similar to those obtained from classical fiber diffraction studies. We also determine that F-actin can be flow-aligned to a disorientation of approximately 5 degrees. Using this XFEL-based technique, we determine that gelsolin amyloids are comprised of stacked -strands running perpendicular to the filament axis, and that a range of order from fibrillar to crystalline is discernable for individual -synuclein amyloids.
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| 1275. |
- Preece, David A., et al.
(författare)
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The Perth Alexithymia Questionnaire-Short Form (PAQ-S) : A 6-item measure of alexithymia
- 2023
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Ingår i: Journal of Affective Disorders. - : Elsevier. - 0165-0327 .- 1573-2517. ; 325, s. 493-501
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Alexithymia is a trait characterized by difficulties identifying feelings, difficulties describing feelings, and externally orientated thinking. It is widely regarded as an important transdiagnostic risk factor for a range of psychopathologies, including depressive and anxiety disorders. Whilst several well-validated psychometric measures of alexithymia exist, these are relatively lengthy, thus limiting their utility in time-pressured settings. In this paper, we address this gap by introducing and validating a brief 6-item version of the Perth Alexithymia Questionnaire, called the Perth Alexithymia Questionnaire-Short Form (PAQ-S). METHOD: Across two studies with adult samples (Study 1 N = 508 United States community; Study 2 = 378 Australian college students), we examined the psychometric properties of the PAQ-S in terms of its factor structure, reliability, and concurrent/criterion validity. RESULTS: In exploratory and confirmatory factor analyses, all PAQ-S items loaded well on a single general alexithymia factor. The PAQ-S total score had high reliability, and correlated as expected with the long-form of the PAQ, as well as other established markers of alexithymia, emotion regulation, and affective disorder symptoms. LIMITATIONS: Our samples were general community or college student samples from two Western countries; future validation work in clinical samples and more diverse cultural groups is thus needed. CONCLUSIONS: The PAQ-S retains the psychometric strengths of the PAQ. As such, the PAQ-S can be used as a quick, robust measure of overall alexithymia levels. The introduction of the PAQ-S hence enables valid assessments of alexithymia in a more diverse range of settings and research designs.
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| 1276. |
- Pälike, Heiko, et al.
(författare)
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A Cenozoic record of the equatorial Pacific carbonate compensation depth
- 2012
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 488:7413, s. 609-614
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Tidskriftsartikel (refereegranskat)abstract
- Atmospheric carbon dioxide concentrations and climate are regulated on geological timescales by the balance between carbon input from volcanic and metamorphic outgassing and its removal by weathering feedbacks; these feedbacks involve the erosion of silicate rocks and organic-carbon-bearing rocks. The integrated effect of these processes is reflected in the calcium carbonate compensation depth, which is the oceanic depth at which calcium carbonate is dissolved. Here we present a carbonate accumulation record that covers the past 53 million years from a depth transect in the equatorial Pacific Ocean. The carbonate compensation depth tracks long-term ocean cooling, deepening from 3.0-3.5 kilometres during the early Cenozoic (approximately 55 million years ago) to 4.6 kilometres at present, consistent with an overall Cenozoic increase in weathering. We find large superimposed fluctuations in carbonate compensation depth during the middle and late Eocene. Using Earth system models, we identify changes in weathering and the mode of organic-carbon delivery as two key processes to explain these large-scale Eocene fluctuations of the carbonate compensation depth.
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| 1277. |
- Qian, Frank, et al.
(författare)
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n-3 Fatty Acid Biomarkers and Incident Type 2 Diabetes : An Individual Participant-Level Pooling Project of 20 Prospective Cohort Studies
- 2021
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Ingår i: Diabetes Care. - : American Diabetes Association. - 0149-5992 .- 1935-5548. ; 44:5, s. 1133-1142
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE Prospective associations between n-3 fatty acid biomarkers and type 2 diabetes (T2D) risk are not consistent in individual studies. We aimed to summarize the prospective associations of biomarkers of alpha-linolenic acid (ALA), eicosapentaenoic acid (EPA), docosapentaenoic acid (DPA), and docosahexaenoic acid (DHA) with T2D risk through an individual participant-level pooled analysis.RESEARCH DESIGN AND METHODS For our analysis we incorporated data from a global consortium of 20 prospective studies from 14 countries. We included 65,147 participants who had blood measurements of ALA, EPA, DPA, or DHA and were free of diabetes at baseline. De novo harmonized analyses were performed in each cohort following a pre-specified protocol, and cohort-specific associations were pooled using inverse variance-weighted meta-analysis.RESULTS A total of 16,693 incident T2D cases were identified during follow-up (median follow-up ranging from 2.5 to 21.2 years). In pooled multivariable analysis, per interquintile range (difference between the 90th and 10th percentiles for each fatty acid), EPA, DPA, DHA, and their sum were associated with lower T2D incidence, with hazard ratios (HRs) and 95% CIs of 0.92 (0.87, 0.96), 0.79 (0.73, 0.85), 0.82 (0.76, 0.89), and 0.81 (0.75, 0.88), respectively (all P < 0.001). ALA was not associated with T2D (HR 0.97 [95% CI 0.92, 1.02]) per interquintile range. Associations were robust across prespecified subgroups as well as in sensitivity analyses.CONCLUSIONS Higher circulating biomarkers of seafood-derived n-3 fatty acids, including EPA, DPA, DHA, and their sum, were associated with lower risk of T2D in a global consortium of prospective studies. The biomarker of plant-derived ALA was not significantly associated with T2D risk.
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| 1278. |
- Remus, A., et al.
(författare)
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A core outcome set for research and clinical practice in women with pelvic girdle pain: PGP-COS
- 2021
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Ingår i: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 16:2
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Tidskriftsartikel (refereegranskat)abstract
- Background Inconsistent reporting of outcomes in clinical trials of women with Pelvic Girdle Pain (PGP) hinders comparison of findings and the reliability of evidence synthesis. A core outcome set (COS) can address this issue as it defines a minimum set of outcomes that should be reported in all clinical trials on the condition. The aim of this study was to develop a consensus-based COS for evaluating the effectiveness of interventions in PGP during pregnancy and postpartum for use in research and clinical practice. Methods A systematic review of previous studies on PGP and semi-structured interviews with women were undertaken to identify all outcomes that were reported in prior studies and that are relevant to those experiencing the condition. Key stakeholders (clinicians, researchers, service providers/policy makers and individuals with PGP) then rated the importance of these outcomes for including in a preliminary PGP-COS using a 3-round Delphi study. The final COS was agreed at a face-to-face consensus meeting. Results Consensus was achieved on five outcomes for inclusion in the final PGP-COS. All outcomes are grouped under the "life impact" domain and include: pain frequency, pain intensity/severity, function/disability/activity limitation, health-related quality of life and fear avoidance. Conclusion This study identified a COS for evaluating the effectiveness of interventions in pregnancy-related and postpartum-related PGP in research and clinical settings. It is advocated that all trials, other non-randomised studies and clinicians in this area use this COS by reporting these outcomes as a minimum. This will ensure the reporting of meaningful outcomes and will enable the findings of future studies to be compared and combined. Future work will determine how to measure the outcomes of the PGP-COS. Core outcome set registration This PGP-COS was registered with COMET (Core Outcome Measures for Effectiveness Trials) in January 2017 (http://www.comet-initiative.org/studies/details/958).
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| 1279. |
- Rieb, Jesse T., et al.
(författare)
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When, Where, and How Nature Matters for Ecosystem Services : Challenges for the Next Generation of Ecosystem Service Models
- 2017
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Ingår i: BioScience. - : Oxford University Press (OUP). - 0006-3568 .- 1525-3244. ; 67:9, s. 820-833
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Tidskriftsartikel (refereegranskat)abstract
- Many decision-makers are looking to science to clarify how nature supports human well-being. Scientists' responses have typically focused on empirical models of the provision of ecosystem services (ES) and resulting decision-support tools. Although such tools have captured some of the complexities of ES, they can be difficult to adapt to new situations. Globally useful tools that predict the provision of multiple ES under different decision scenarios have proven challenging to develop. Questions from decision-makers and limitations of existing decision-support tools indicate three crucial research frontiers for incorporating cutting-edge ES science into decision-support tools: (1) understanding the complex dynamics of ES in space and time, (2) linking ES provision to human well-being, and (3) determining the potential for technology to substitute for or enhance ES. We explore these frontiers in-depth, explaining why each is important and how existing knowledge at their cutting edges can be incorporated to improve ES decision-making tools.
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| 1280. |
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