| 1. |
- Niemi, MEK, et al.
(författare)
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- 2021
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swepub:Mat__t
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- van Rheenen, W, et al.
(författare)
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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
- 2021
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 53:12, s. 1636-
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Tidskriftsartikel (refereegranskat)abstract
- Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons.
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- Antel, C., et al.
(författare)
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Feebly-interacting particles : FIPs 2022 Workshop Report
- 2023
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Ingår i: European Physical Journal C. - : Springer. - 1434-6044 .- 1434-6052. ; 83:12
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Forskningsöversikt (refereegranskat)abstract
- Particle physics today faces the challenge of explaining the mystery of dark matter, the origin of matter over anti-matter in the Universe, the origin of the neutrino masses, the apparent fine-tuning of the electro-weak scale, and many other aspects of fundamental physics. Perhaps the most striking frontier to emerge in the search for answers involves new physics at mass scales comparable to familiar matter, below the GeV-scale, or even radically below, down to sub-eV scales, and with very feeble interaction strength. New theoretical ideas to address dark matter and other fundamental questions predict such feebly interacting particles (FIPs) at these scales, and indeed, existing data provide numerous hints for such possibility. A vibrant experimental program to discover such physics is under way, guided by a systematic theoretical approach firmly grounded on the underlying principles of the Standard Model. This document represents the report of the FIPs 2022 workshop, held at CERN between the 17 and 21 October 2022 and aims to give an overview of these efforts, their motivations, and the decadal goals that animate the community involved in the search for FIPs.
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| 15. |
- Sumaila, U. Rashid, et al.
(författare)
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WTO must ban harmful fisheries subsidies
- 2021
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 374:6567, s. 544-544
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 17. |
- Abbafati, Cristiana, et al.
(författare)
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- 2020
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Tidskriftsartikel (refereegranskat)
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| 18. |
- Grassi, A., et al.
(författare)
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Association between incision technique for hamstring tendon harvest in anterior cruciate ligament reconstruction and the risk of injury to the infra-patellar branch of the saphenous nerve: a meta-analysis
- 2018
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Ingår i: Knee Surgery Sports Traumatology Arthroscopy. - : Springer Science and Business Media LLC. - 0942-2056 .- 1433-7347. ; 26:8, s. 2410-2423
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Tidskriftsartikel (refereegranskat)abstract
- To determine how the incision technique for hamstring tendon (HT) harvest in anterior cruciate ligament (ACL) reconstruction affects the risk of injury to the IPBSN and clinical outcome. A systematic literature search of the MEDLINE/Pubmed, Cochrane Central Register of Controlled Trials (CENTRAL) and EBSCOhost electronic databases and clinicaltrials.gov for unpublished studies was performed to identify comparative studies investigating injury to the IPBSN after HT ACL reconstruction by comparing at least two different incision techniques. Data were extracted for the number of patients with evidence of any neurologic deficit corresponding to injury to the IPBSN, area of sensory deficit, the Lysholm score and patient satisfaction. The mean difference (MD) in study outcome between incision groups was assessed. The relative risk (RR) and the number needed to treat (NNT) were calculated. The Chi-square and Higgins' I (2) tests were applied to test heterogeneity. Data were pooled using a Mantel-Haenszel random-effects model if the statistical heterogeneity was > 50% and a fixed-effects model if the statistical heterogeneity was < 50%. The risk of bias was evaluated according to the Cochrane Database questionnaire and the quality of evidence was graded according to the Grading of Recommendations Assessment, Development and Evaluation (GRADE) guidelines. A total of eight studies (three randomized controlled trials (RCTs) and five comparative studies) were included, of which six compared vertical and oblique incisions, one horizontal and vertical incisions, and one compared all three techniques. HT harvest was performed through a vertical incision in 329 patients, through an oblique incision in 195 patients and through a horizontal incision in 151 patients. Considering the meta-analysis of the RCTs, the performance of a vertical incision significantly increased the risk of causing IPBSN deficiency compared with both oblique and horizontal incision [RR 1.65 (CI 1.10-2.49, p = 0.02) and RR 2.45 (CI 1.73-3.47, p < 0.0001), respectively]. A significantly larger area of sensory deficit was found with vertical incisions compared with oblique ones, with an MD of 22.91 cm(2) (95% CI 7.73-38.08; p = 0.04). No significant differences were found between the incision techniques in relation to patient-reported outcomes. The same trend was obtained after the performing a meta-analysis of all eight included studies. The quality of evidence in this meta-analysis was determined as "low" to "moderate", mostly due to inadequate methods of randomization and high heterogeneity among the included studies. The performance of a vertical incision to harvest HTs for ACL reconstruction significantly increased the risk of iatrogenic injury to the IPBSN compared with both oblique and horizontal incisions.
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| 19. |
- Grassi, A., et al.
(författare)
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Patients With Failed Anterior Cruciate Ligament Reconstruction Have an Increased Posterior Lateral Tibial Plateau Slope: A Case-Controlled Study
- 2019
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Ingår i: Arthroscopy-the Journal of Arthroscopic and Related Surgery. - : Elsevier BV. - 0749-8063. ; 35:4, s. 1172-1182
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To compare knee anatomical parameters of patients with failed anterior cruciate ligament reconstruction (ACL-R) with those of a control group of sex-matched patients with successful ACL-R. Methods: Forty-three patients (34 male, 9 female) who experienced graft failure after ACL-R were enrolled in the failed group. These patients were matched to a control group of 43 patients who underwent primary ACL-R with a minimum follow-up of 24 months. On magnetic resonance imaging, the following parameters were evaluated: transepicondylar distance, lateral and medial femoral condyle widths, tibial plateau width, notch width index, and the ratio of width and height of the femoral notch, ratio between the height and depth of the lateral and medial femoral condyle, lateral and medial posterior tibial slopes, and anterior subluxation of the lateral and medial tibial plateau. Multivariate regression with backward elimination, including only the previously identified significant variables, defined the independent predictors for revision surgery. Results: The anatomical variables that were significantly different between the 2 study groups were lateral and medial posterior tibial slopes, anterior subluxation of the lateral and medial tibial plateau, medial tibial plateau width, lateral tibial plateau width, medial femoral condyle width, and transepicondylar distance; however, the multivariate regression analysis identified the lateral posterior tibial slope (LTPs), the anterior subluxation of the medial tibial plateau, and the medial femoral condyle width as significant independent predictors (P < .05). The LPTs had the highest coefficient and the highest sensitivity (88%) and specificity (84%) to identify failures when considering the optimal cutoff value of 7.4 degrees. Conclusions: Several anatomical parameters have been identified that differ significantly between patients with failed ACL-R and those without a documented failure. The most accurate predictor of ACL failure was an LTPs >7.4 degrees, with a sensitivity of 88% and specificity of 84%. Surgeons should consider measuring LTPs during preoperative assessment of ACL-injured patients, and patients with values >7.4 degrees should be considered at high risk of ACL-R failure.
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| 20. |
- Manni, Giovanni Li, et al.
(författare)
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The OpenMolcas Web : A Community-Driven Approach to Advancing Computational Chemistry
- 2023
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Ingår i: Journal of Chemical Theory and Computation. - : American Chemical Society (ACS). - 1549-9618 .- 1549-9626. ; 19:20, s. 6933-6991
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Tidskriftsartikel (refereegranskat)abstract
- The developments of the open-source OpenMolcas chemistry software environment since spring 2020 are described, with a focus on novel functionalities accessible in the stable branch of the package or via interfaces with other packages. These developments span a wide range of topics in computational chemistry and are presented in thematic sections: electronic structure theory, electronic spectroscopy simulations, analytic gradients and molecular structure optimizations, ab initio molecular dynamics, and other new features. This report offers an overview of the chemical phenomena and processes OpenMolcas can address, while showing that OpenMolcas is an attractive platform for state-of-the-art atomistic computer simulations.
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| 21. |
- Feigin, Valery L., et al.
(författare)
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Global, regional, and national burden of stroke and its risk factors, 1990-2019 : a systematic analysis for the Global Burden of Disease Study 2019
- 2021
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Ingår i: Lancet Neurology. - : Elsevier. - 1474-4422 .- 1474-4465. ; 20:10, s. 795-820
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Tidskriftsartikel (refereegranskat)abstract
- Background Regularly updated data on stroke and its pathological types, including data on their incidence, prevalence, mortality, disability, risk factors, and epidemiological trends, are important for evidence-based stroke care planning and resource allocation. The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) aims to provide a standardised and comprehensive measurement of these metrics at global, regional, and national levels. Methods We applied GBD 2019 analytical tools to calculate stroke incidence, prevalence, mortality, disability-adjusted life-years (DALYs), and the population attributable fraction (PAF) of DALYs (with corresponding 95% uncertainty intervals [UIs]) associated with 19 risk factors, for 204 countries and territories from 1990 to 2019. These estimates were provided for ischaemic stroke, intracerebral haemorrhage, subarachnoid haemorrhage, and all strokes combined, and stratified by sex, age group, and World Bank country income level. Findings In 2019, there were 12.2 million (95% UI 11.0-13.6) incident cases of stroke, 101 million (93.2-111) prevalent cases of stroke, 143 million (133-153) DALYs due to stroke, and 6.55 million (6.00-7.02) deaths from stroke. Globally, stroke remained the second-leading cause of death (11.6% [10.8-12.2] of total deaths) and the third-leading cause of death and disability combined (5.7% [5.1-6.2] of total DALYs) in 2019. From 1990 to 2019, the absolute number of incident strokes increased by 70.0% (67.0-73.0), prevalent strokes increased by 85.0% (83.0-88.0), deaths from stroke increased by 43.0% (31.0-55.0), and DALYs due to stroke increased by 32.0% (22.0-42.0). During the same period, age-standardised rates of stroke incidence decreased by 17.0% (15.0-18.0), mortality decreased by 36.0% (31.0-42.0), prevalence decreased by 6.0% (5.0-7.0), and DALYs decreased by 36.0% (31.0-42.0). However, among people younger than 70 years, prevalence rates increased by 22.0% (21.0-24.0) and incidence rates increased by 15.0% (12.0-18.0). In 2019, the age-standardised stroke-related mortality rate was 3.6 (3.5-3.8) times higher in the World Bank low-income group than in the World Bank high-income group, and the age-standardised stroke-related DALY rate was 3.7 (3.5-3.9) times higher in the low-income group than the high-income group. Ischaemic stroke constituted 62.4% of all incident strokes in 2019 (7.63 million [6.57-8.96]), while intracerebral haemorrhage constituted 27.9% (3.41 million [2.97-3.91]) and subarachnoid haemorrhage constituted 9.7% (1.18 million [1.01-1.39]). In 2019, the five leading risk factors for stroke were high systolic blood pressure (contributing to 79.6 million [67.7-90.8] DALYs or 55.5% [48.2-62.0] of total stroke DALYs), high body-mass index (34.9 million [22.3-48.6] DALYs or 24.3% [15.7-33.2]), high fasting plasma glucose (28.9 million [19.8-41.5] DALYs or 20.2% [13.8-29.1]), ambient particulate matter pollution (28.7 million [23.4-33.4] DALYs or 20.1% [16.6-23.0]), and smoking (25.3 million [22.6-28.2] DALYs or 17.6% [16.4-19.0]). Interpretation The annual number of strokes and deaths due to stroke increased substantially from 1990 to 2019, despite substantial reductions in age-standardised rates, particularly among people older than 70 years. The highest age-standardised stroke-related mortality and DALY rates were in the World Bank low-income group. The fastest-growing risk factor for stroke between 1990 and 2019 was high body-mass index. Without urgent implementation of effective primary prevention strategies, the stroke burden will probably continue to grow across the world, particularly in low-income countries.
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