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| 2. |
- Mercuri, E., et al.
(författare)
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Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study
- 2020
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Ingår i: Journal of Comparative Effectiveness Research. - : Becaris Publishing Limited. - 2042-6305 .- 2042-6313. ; 9:5, s. 341-360
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Tidskriftsartikel (refereegranskat)abstract
- Aim: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, multicenter registry providing real-world evidence regarding ataluren use in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). We examined the effectiveness of ataluren + standard of care (SoC) in the registry versus SoC alone in the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS), DMD genotype-phenotype/-ataluren benefit correlations and ataluren safety. Patients & methods: Propensity score matching was performed to identify STRIDE and CINRG DNHS patients who were comparable in established disease progression predictors (registry cut-off date, 9 July 2018). Results & conclusion: Kaplan-Meier analyses demonstrated that ataluren + SoC significantly delayed age at loss of ambulation and age at worsening performance in timed function tests versus SoC alone (p <= 0.05). There were no DMD genotype-phenotype/ataluren benefit correlations. Ataluren was well tolerated. These results indicate that ataluren + SoC delays functional milestones of DMD progression in patients with nmDMD in routine clinical practice. ClinicalTrials.gov identifier: NCT02369731. ClinicalTrials.gov identifier: NCT02369731.
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| 3. |
- Babusci, D., et al.
(författare)
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Precision tests of quantum mechanics and CPT symmetry with entangled neutral kaons at KLOE
- 2022
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Ingår i: Journal of High Energy Physics (JHEP). - : Springer Nature. - 1126-6708 .- 1029-8479.
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Tidskriftsartikel (refereegranskat)abstract
- The quantum interference between the decays of entangled neutral kaons is studied in the process phi -> KSKL -> pi(+)pi(-)pi(+)pi(-), which exhibits the characteristic Einstein-Podolsky-Rosen correlations that prevent both kaons to decay into pi(+)pi(-) at the same time. This constitutes a very powerful tool for testing at the utmost precision the quantum coherence of the entangled kaon pair state, and to search for tiny decoherence and CPT violation effects, which may be justified in a quantum gravity framework. The analysed data sample was collected with the KLOE detector at DA Phi NE, the Frascati phi-factory, and corresponds to an integrated luminosity of about 1.7 fb(-1), i.e. to about 1.7 x 10(9) phi -> KSKL decays produced. From the fit of the observed Delta t distribution, being Delta t the difference of the kaon decay times, the decoherence and CPT violation parameters of various phenomenological models are measured with a largely improved accuracy with respect to previous analyses. The results are consistent with no deviation from quantum mechanics and CPT symmetry, while for some parameters the precision reaches the interesting level at which - in the most optimistic scenarios - quantum gravity effects might show up. They provide the most stringent limits up to date on the considered models.
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| 4. |
- Babusci, D., et al.
(författare)
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Direct tests of T, CP, CPT symmetries in transitions of neutral K mesons with the KLOE experiment
- 2023
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Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 845
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Tidskriftsartikel (refereegranskat)abstract
- Tests of the T, CP and CPT symmetries in the neutral kaon system are performed by the direct comparison of the probabilities of a kaon transition process to its symmetry-conjugate. The exchange of in and out states required for a genuine test involving an antiunitary transformation implied by time-reversal is implemented exploiting the entanglement of K0K0 pairs produced at a 0 -factory.A data sample collected by the KLOE experiment at DAONE corresponding to an integrated luminosity of about 1.7 fb-1 is analysed to study the At distributions of the 0 -> KSKL -> pi+pi- pi +/- e -/+ v and 0 -> KSKL -> pi +/- e -/+ v3 pi 0 processes, with At the difference of the kaon decay times. A comparison of the measured At distributions in the asymptotic region At â … iS allows to test for the first time T and CPT symmetries in kaon transitions with a precision of few percent, and to observe CP violation with this novel method.
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| 5. |
- Babusci, D., et al.
(författare)
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Measurement of the branching fraction for the decay K-S -> pi mu nu with the KLOE detector
- 2020
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Ingår i: Physics Letters B. - : ELSEVIER. - 0370-2693 .- 1873-2445. ; 804
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Tidskriftsartikel (refereegranskat)abstract
- Based on a sample of 300 million K-S mesons produced in phi -> KLKS decays recorded by the KLOE experiment at the DA Phi NE e(+)e(-) collider we have measured the branching fraction for the decay K-S -> pi mu nu. The K-S mesons are identified by the interaction of K-L mesons in the detector. The K-S -> pi mu nu decays are selected by a boosted decision tree built with kinematic variables and by a time-of-flight measurement. Signal efficiencies are evaluated with data control samples of K-L -> pi mu nu decays. A fit to the reconstructed muon mass distribution finds 7223 +/- 180 signal events. Normalising to the K-S -> pi(+)pi(-) decay events the result for the branching fraction is B(K-S -> pi mu nu) = (4.56 +/- 0.11(stat) +/- 0.17(syst)) x 10(-4). It is the first measurement of this decay mode and the result allows an independent determination of vertical bar V-us vertical bar and a test of the lepton-flavour universality. (c) 2020 The Author. Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
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| 6. |
- Babusci, D., et al.
(författare)
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Measurement of the K-S ? : pe? branching fraction with the KLOE experiment
- 2023
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Ingår i: Journal of High Energy Physics (JHEP). - : Springer Nature. - 1126-6708 .- 1029-8479. ; :2
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Tidskriftsartikel (refereegranskat)abstract
- The ratio R = gamma(K-S -> pi e nu)/gamma(KS -> pi(+)pi(-)) has been measured with a sample of 300 million KS mesons produced in phi -KLKS decays recorded by the KLOE experiment at the DA Phi NE e(+)e(-) collider. K-S -> pi e nu events are selected by a boosted decision tree built with kinematic variables and time-of-flight measurements. Data control samples of K-L -> pi e nu decays are used to evaluate signal selection efficiencies. With 49647 +/- 316 signal events we measure R = (1.0421 +/- 0.0066(stat) +/- 0.0075(syst)) x 10(-3). The combination with our previous measurement gives R = (1.0338 +/- 0.0054(stat) +/- 0.0064(syst)) x 10(-3). From this value we derive the branching fraction B(K-S -> pi e nu) = (7.153 +/- 0.037(stat)+/- 0.044(syst)) x 10(-4) and f(+)(0)|V-us| = 0.2170 +/- 0.009.
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| 7. |
- Babusci, D., et al.
(författare)
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Upper limit on the eta -> pi(+)pi(-) branching fraction with the KLOE experiment
- 2020
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Ingår i: Journal of High Energy Physics (JHEP). - : SPRINGER. - 1126-6708 .- 1029-8479. ; :10
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Tidskriftsartikel (refereegranskat)abstract
- Based on an integrated luminosity of 1.61 fb(-1)e(+)e(-) collision data collected with the KLOE detector at DA Phi NE, the Frascati phi -factory, a search for the P- and CP-violating decay eta -> pi (+)pi (-) has been performed. Radiative phi -> eta gamma decay is exploited to access the eta mesons. No signal is observed in the pi (+)pi (-) invariant mass spectrum, and the upper limit on the branching fraction at 90% confidence level is determined to be B(eta -> pi (+)pi (-)) < 4.9 x 10(-6), which is approximately three times smaller than the previous KLOE result. From the combination of these two measurements we get B( -> pi (+)pi (-)) < 4.4 x 10(-6) at 90% confidence level.
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| 8. |
- Vergallo, A., et al.
(författare)
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Association of plasma YKL-40 with brain amyloid-β levels, memory performance, and sex in subjective memory complainers
- 2020
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Ingår i: Neurobiology of Aging. - : Elsevier BV. - 0197-4580. ; 96, s. 22-32
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Tidskriftsartikel (refereegranskat)abstract
- Neuroinflammation, a key early pathomechanistic alteration of Alzheimer's disease, may represent either a detrimental or a compensatory mechanism or both (according to the disease stage). YKL-40, a glycoprotein highly expressed in differentiated glial cells, is a candidate biomarker for in vivo tracking neuroinflammation in humans. We performed a longitudinal study in a monocentric cohort of cognitively healthy individuals at risk for Alzheimer's disease exploring whether age, sex, and the apolipoprotein E ε4 allele affect plasma YKL-40 concentrations. We investigated whether YKL-40 is associated with brain amyloid-β (Aβ) deposition, neuronal activity, and neurodegeneration as assessed via neuroimaging biomarkers. Finally, we investigated whether YKL-40 may predict cognitive performance. We found an age-associated increase of YKL-40 and observed that men display higher concentrations than women, indicating a potential sexual dimorphism. Moreover, YKL-40 was positively associated with memory performance and negatively associated with brain Aβ deposition (but not with metabolic signal). Consistent with translational studies, our results suggest a potentially protective effect of glia on incipient brain Aβ accumulation and neuronal homeostasis. © 2020 Elsevier Inc.
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| 9. |
- Cruz, Raquel, et al.
(författare)
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Novel genes and sex differences in COVID-19 severity
- 2022
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Ingår i: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 31:22, s. 3789-3806
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Tidskriftsartikel (refereegranskat)abstract
- Here, we describe the results of a genome-wide study conducted in 11 939 coronavirus disease 2019 (COVID-19) positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). In sex-disaggregated genome-wide association studies for COVID-19 hospitalization, genome-wide significance (P < 5 × 10−8) was crossed for variants in 3p21.31 and 21q22.11 loci only among males (P = 1.3 × 10−22 and P = 8.1 × 10−12, respectively), and for variants in 9q21.32 near TLE1 only among females (P = 4.4 × 10−8). In a second phase, results were combined with an independent Spanish cohort (1598 COVID-19 cases and 1068 population controls), revealing in the overall analysis two novel risk loci in 9p13.3 and 19q13.12, with fine-mapping prioritized variants functionally associated with AQP3 (P = 2.7 × 10−8) and ARHGAP33 (P = 1.3 × 10−8), respectively. The meta-analysis of both phases with four European studies stratified by sex from the Host Genetics Initiative (HGI) confirmed the association of the 3p21.31 and 21q22.11 loci predominantly in males and replicated a recently reported variant in 11p13 (ELF5, P = 4.1 × 10−8). Six of the COVID-19 HGI discovered loci were replicated and an HGI-based genetic risk score predicted the severity strata in SCOURGE. We also found more SNP-heritability and larger heritability differences by age (<60 or ≥60 years) among males than among females. Parallel genome-wide screening of inbreeding depression in SCOURGE also showed an effect of homozygosity in COVID-19 hospitalization and severity and this effect was stronger among older males. In summary, new candidate genes for COVID-19 severity and evidence supporting genetic disparities among sexes are provided.
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| 10. |
- Lembrechts, Jonas J., et al.
(författare)
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SoilTemp : A global database of near-surface temperature
- 2020
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Ingår i: Global Change Biology. - : Wiley. - 1354-1013 .- 1365-2486. ; 26:11, s. 6616-6629
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Tidskriftsartikel (refereegranskat)abstract
- Current analyses and predictions of spatially explicit patterns and processes in ecology most often rely on climate data interpolated from standardized weather stations. This interpolated climate data represents long-term average thermal conditions at coarse spatial resolutions only. Hence, many climate-forcing factors that operate at fine spatiotemporal resolutions are overlooked. This is particularly important in relation to effects of observation height (e.g. vegetation, snow and soil characteristics) and in habitats varying in their exposure to radiation, moisture and wind (e.g. topography, radiative forcing or cold-air pooling). Since organisms living close to the ground relate more strongly to these microclimatic conditions than to free-air temperatures, microclimatic ground and near-surface data are needed to provide realistic forecasts of the fate of such organisms under anthropogenic climate change, as well as of the functioning of the ecosystems they live in. To fill this critical gap, we highlight a call for temperature time series submissions to SoilTemp, a geospatial database initiative compiling soil and near-surface temperature data from all over the world. Currently, this database contains time series from 7,538 temperature sensors from 51 countries across all key biomes. The database will pave the way toward an improved global understanding of microclimate and bridge the gap between the available climate data and the climate at fine spatiotemporal resolutions relevant to most organisms and ecosystem processes.
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