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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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- Aznar, MC, et al.
(författare)
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In vivo absorbed dose measurements in mammography using a new real-time luminescence technique
- 2005
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Ingår i: British Journal of Radiology. - : British Institute of Radiology. - 1748-880X .- 0007-1285. ; 78:928, s. 328-334
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Tidskriftsartikel (refereegranskat)abstract
- A dosimetry system based on radioluminescence (RL) and optically stimulated luminescence (OSL) from carbon doped aluminium oxide (Al2O3:C) crystals was developed for in vivo absorbed dose measurements in mammography. A small cylindrical crystal of Al2O3:C (diameter 0.48 mm and length 2 mm) was coupled to the end of a 1 mm diameter optical fibre cable. Owing to their small size and characteristic shape, these probes can be placed on the body surface in the field of view during the examination, without compromising the reading of the mammogram. Our new technique was tested with a mammography unit (Siemens Mammomat 3000) and screen-film technique over a range of clinically relevant X-ray energies. The results were compared with those obtained from an ionization chamber usually used for the determination of absorbed dose in mammography. The reproducibility of measurements was around 3% (1 standard deviation) at 4.5 mGy for both RL and OSL data. The dose response was found to be linear between 4.5 mGy and 30 mGy. The energy dependence of the system is around 18% between 23 kV and 35 kV. In vivo measurements were performed during three patient examinations. It was shown that entrance and exit doses could be measured. The presence of the small probes did not significantly interfere with the diagnostic quality of the images. Entrance doses estimated by RL/OSL results agreed within 3% with entrance surface dose values calculated from the ionization chamber measurements. These results indicate a considerable potential for use in routine control and in vivo dose measurements in mammography.
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- Aznar, MC, et al.
(författare)
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Real-time optical-fibre luminescence dosimetry for radiotherapy: physical characteristics and applications in photon beams
- 2004
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Ingår i: Physics in Medicine and Biology. - : IOP Publishing. - 1361-6560 .- 0031-9155. ; 49:9, s. 1655-1669
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Tidskriftsartikel (refereegranskat)abstract
- A new optical-fibre radiation dosimeter system, based on radioluminescence and optically stimulated luminescence from carbon-doped aluminium oxide, was developed and tested in clinical photon beams. This prototype offers several features, such as a small detector (1 x 1 x 2 mm), high sensitivity, real-time read-out and the ability to measure both dose rate and absorbed dose. The measurements describing reproducibility and output dependence on dose rate, field size and energy all had standard deviations smaller than 1%. The signal variation with the angle of incidence was smaller than 2% (1 SD). Measurements performed in clinical situations suggest the potential of using this real-time system for in vivo dosimetry in radiotherapy.
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- Sattler, MC, et al.
(författare)
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Physical activity self-reports: past or future?
- 2021
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Ingår i: British journal of sports medicine. - : BMJ. - 1473-0480 .- 0306-3674. ; 55:16, s. 889-
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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- Wang, HD, et al.
(författare)
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Global, regional, national, and selected subnational levels of stillbirths, neonatal, infant, and under-5 mortality, 1980-2015: a systematic analysis for the Global Burden of Disease Study 2015
- 2016
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Ingår i: Lancet (London, England). - : Elsevier. - 1474-547X .- 0140-6736. ; 388:10053, s. 1725-1774
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Tidskriftsartikel (refereegranskat)
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| 30. |
- Kanai, M, et al.
(författare)
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- 2023
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swepub:Mat__t
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