| 1. |
- de Rojas, I., et al.
(författare)
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Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
- 2021
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease. © 2021, The Author(s).
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| 2. |
- Dunn, R. J. H., et al.
(författare)
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GLOBAL CLIMATE : State of the Climate in 2020
- 2021
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Ingår i: Bulletin of the American Meteorological Society. - : American Meteorological Society. - 0003-0007 .- 1520-0477. ; 102:8, s. S11-S141
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Tidskriftsartikel (refereegranskat)
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| 3. |
- Ades, M., et al.
(författare)
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Global Climate : in State of the climate in 2019
- 2020
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Ingår i: Bulletin of The American Meteorological Society - (BAMS). - : American Meteorological Society. - 0003-0007 .- 1520-0477. ; 101:8, s. S17-S127
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Tidskriftsartikel (refereegranskat)
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| 4. |
- Ades, M., et al.
(författare)
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GLOBAL CLIMATE
- 2020
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Ingår i: BULLETIN OF THE AMERICAN METEOROLOGICAL SOCIETY. - 0003-0007 .- 1520-0477. ; 101:8, s. S17-S127
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Tidskriftsartikel (refereegranskat)
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| 5. |
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| 6. |
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| 7. |
- Basini, M., et al.
(författare)
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Low-temperature anomalies in muon spin relaxation of solid and hollow gamma-Fe2O3 nanoparticles : A pathway to detect unusual local spin dynamics
- 2020
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Ingår i: Physical Review B. - : American Physical Society (APS). - 2469-9950 .- 2469-9969. ; 102:19
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Tidskriftsartikel (refereegranskat)abstract
- By means of muon spin relaxation measurements we unraveled the temperature spin dynamics in monodisperse maghemite spherical nanoparticles with different surface to volume ratio, in two samples with a full core (diameter D similar to 4 and D similar to 5 nm) and one with a hollow core (external diameter D similar to 7.4 nm). The behavior of the muon longitudinal relaxation rates as a function of temperature allowed us to identify two distinct spin dynamics. The first is well witnessed by the presence of a characteristic peak for all the samples around the so-called muon blocking temperature T-B(mu+). A Bloembergen-Purcell-Pound (BPP)-like model reproduces the experimental data around the peak and at higher temperatures (20 < T < 100 K) by assuming the Neel reversal time of the magnetization as the dominating correlation time. An additional dynamic emerges in the samples with higher surface to volume ratio, namely, full 4 nm and hollow samples. This is witnessed by a shoulder of the main peak for T < 20 K at low longitudinal field (mu H-0 approximate to 15 mT), followed by an abrupt increase of the relaxation rate at T < 10 K, which is more evident for the hollow sample. These unusual anomalies of the longitudinal relaxation rate for T < T-B(mu+) are suggested to be due to the surface spins' dynamical behavior. Furthermore, for weak applied longitudinal magnetic field (mu H-0 approximate to 15 mT) and T < T-B(mu+) we observed damped coherent oscillations of the muon asymmetry, which are a signature of a quasistatic local field at the muon site as probed by muons implanted in the inner magnetic core of the nanoparticles. The muon spin relaxation technique turns out to be very successful to study the magnetic behavior of maghemite nanoparticles and to detect their unusual local spin dynamics in low magnetic field conditions.
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| 10. |
- Martel-Duguech, Luciana Maria, et al.
(författare)
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ESE audit on management of Adult Growth Hormone Deficiency in clinical practice.
- 2021
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Ingår i: European journal of endocrinology. - 1479-683X. ; 184:2
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Tidskriftsartikel (refereegranskat)abstract
- Guidelines recommend adults with pituitary disease in whom GH therapy is contemplated, to be tested for GH deficiency (AGHD); however, clinical practice is not uniform.1) To record current practice of AGHD management throughout Europe and benchmark it against guidelines; 2) To evaluate educational status of healthcare professionals about AGHD.On-line survey in endocrine centres throughout Europe.Endocrinologists voluntarily completed an electronic questionnaire regarding AGHD patients diagnosed or treated in 2017-2018.Twenty-eight centres from 17 European countries participated, including 2139 AGHD patients, 28% of childhood-onset GHD. Aetiology was most frequently non-functioning pituitary adenoma (26%), craniopharyngioma (13%) and genetic/congenital mid-line malformations (13%). Diagnosis of GHD was confirmed by a stimulation test in 52% (GHRH+arginine, 45%; insulin-tolerance, 42%, glucagon, 6%; GHRH alone and clonidine tests, 7%); in the remaining, ≥3 pituitary deficiencies and low serum IGF-I were diagnostic. Initial GH dose was lower in older patients, but only women <26 years were prescribed a higher dose than men; dose titration was based on normal serum IGF-I, tolerance and side-effects. In one country, AGHD treatment was not approved. Full public reimbursement was not available in four countries and only in childhood-onset GHD in another. AGHD awareness was low among non-endocrine professionals and healthcare administrators. Postgraduate AGHD curriculum training deserves being improved.Despite guideline recommendations, GH replacement in AGHD is still not available or reimbursed in all European countries. Knowledge among professionals and health administrators needs improvement to optimize care of adults with GHD.
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