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| 2. |
- 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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| 3. |
- Dhiman, Vinit, et al.
(författare)
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Multiband optical variability of the TeV blazar PG 1553+113 in 2019
- 2022
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Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 519:2, s. 2796-2811
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Tidskriftsartikel (refereegranskat)abstract
- We report the flux and spectral variability of PG 1553 + 113 on intra-night (IDV) to short-term time-scales using BVRI data collected over 91 nights from 28 February to 8 November 2019 employing 10 optical telescopes: three in Bulgaria, two each in India and Serbia, and one each in Greece, Georgia, and Latvia. We monitored the blazar quasi-simultaneously for 16 nights in the V and R bands and 8 nights in the V, R, I bands and examined the light curves (LCs) for intra-day flux and colour variations using two powerful tests: the power-enhanced F-test and the nested ANOVA test. The source was found to be significantly (>99 per cent) variable in 4 nights out of 27 in R-band, 1 out of 16 in V-band, and 1 out of 6 nights in I-band. No temporal variations in the colours were observed on IDV time-scale. During the course of these observations the total variation in R-band was 0.89 mag observed. We also investigated the spectral energy distribution (SED) using B-, V-, R-, and I-band data. We found optical spectral indices in the range of 0.878 +/- 0.029 to 1.106 +/- 0.065 by fitting a power law (F-nu proportional to nu(-alpha)) to these SEDs of PG 1553 + 113. We found that the source follows a bluer-when-brighter trend on IDV time-scales. We discuss possible physical causes of the observed spectral variability.
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| 4. |
- Gaur, Ashish, et al.
(författare)
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A novel approach for industrial concrete defect identification based on image processing and deep convolutional neural networks
- 2023
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Ingår i: Case Studies in Construction Materials. - : Elsevier. - 2214-5095. ; 19
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Tidskriftsartikel (refereegranskat)abstract
- The preservation of structural integrity and durability is essential for the long-term viability of civil infrastructure projects. Addressing concrete defects promptly is crucial to achieving this objective. In this research, the research proposes a novel method for concrete defect analysis, harnessing the potential of image processing and deep learning techniques. It employs a fusion-based deep convolutional neural network (CNN), amalgamating the features of Inception V3, VGG16, and AlexNet architectures to identify and classify six distinct concrete defect characteristics, namely Cracks, Crazing, Efflorescence, Pop-out, Scaling, and Surface Cracks. Through rigorous training and validation, we thoroughly assess the performance of the proposed fusion-based CNN model. The testing phase reveals precision rates, with Crazing showing the lowest precision at 95%, and Cracks/Pop-outs achieving 98%, while other defect classifications exhibit exceptional 100% precision rates. The overall efficacy of our proposed model is evaluated using accuracy and F1-score metrics. Our findings demonstrate an impressive overall accuracy of 98.31% and an F1-score of 0.98, affirming the robustness and reliability of our approach. The outcomes of this study signify a significant advancement toward accurate and automated detection and classification of concrete defects.
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| 5. |
- Gil-Vila, Albert, et al.
(författare)
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COVID-19 Vaccination In Autoimmune Diseases (COVAD) Study : Vaccine Safety In Idiopathic Inflammatory Myopathies
- 2022
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Ingår i: Muscle and Nerve. - : John Wiley & Sons. - 0148-639X .- 1097-4598. ; 66:4, s. 426-437
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Tidskriftsartikel (refereegranskat)abstract
- INTRODUCTION/AIMS: We studied COVID-19 vaccination-related adverse events (ADEs) 7-days post-vaccination in patients with idiopathic inflammatory myopathies (IIMs) and other systemic autoimmune and inflammatory disorders (SAIDs).METHODS: 7-day vaccine ADEs were collected in an international patient self-reported e-survey. Descriptive statistics and multivariable regression were performed.RESULTS: 10,900 respondents [1227 IIMs; 4640 SAIDs; 5033 healthy controls (HCs), median age 42 (IQR 30-55) years, 74% female, 45% Caucasian, 69% completely vaccinated] were analysed. 76.3% IIMs patients reported minor and 4.6% major ADEs. Patients with active IIMs reported more frequent major [OR 2.7 (1.04-7.3)] and minor [OR 1.5 (1.1-2.2)] ADEs than inactive IIMs. Rashes were more frequent in IIMs [OR-2.3(1.2-4.2)] than HCs. ADEs were not impacted by steroid dose, although hydroxychloroquine and intravenous/subcutaneous immunoglobulins were associated with a higher risk of minor ADEs [OR 1.9 (1.1-3.3), OR 2.2 (1.1-4.3)]. Overall, ADEs were less frequent in inclusion body myositis (IBM) and BNT162b2 (Pfizer) vaccine recipients DISCUSSION: 7-day post-vaccination ADEs were comparable in patients with IIMs, SAIDs, and HCs, except for a higher risk of rashes in IIMs. Patients with DM, active disease may be at higher risk, and IBM patients at lower risk of specific ADEs. Overall, the benefit of preventing severe COVID-19 through vaccination likely outweighs the risk of vaccine-related ADEs Our results may inform future guidelines regarding COVID-19 vaccination in patients with SAIDs, and specifically in IIMs. Studies to evaluate long-term outcomes and disease flares are needed to shed more light on developing future COVID-19 vaccination guidelines.
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