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1.
  • Aad, G., et al. (author)
  • 2012
  • Journal article (peer-reviewed)
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2.
  • Aad, G., et al. (author)
  • 2012
  • Journal article (peer-reviewed)
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4.
  • Aad, G., et al. (author)
  • 2012
  • swepub:Mat__t (peer-reviewed)
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5.
  • Aad, G., et al. (author)
  • 2012
  • swepub:Mat__t (peer-reviewed)
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  • 2011
  • swepub:Mat__t
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10.
  • Klionsky, Daniel J., et al. (author)
  • Guidelines for the use and interpretation of assays for monitoring autophagy
  • 2012
  • In: Autophagy. - : Informa UK Limited. - 1554-8635 .- 1554-8627. ; 8:4, s. 445-544
  • Research review (peer-reviewed)abstract
    • In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues to be confusion regarding acceptable methods to measure autophagy, especially in multicellular eukaryotes. A key point that needs to be emphasized is that there is a difference between measurements that monitor the numbers or volume of autophagic elements (e.g., autophagosomes or autolysosomes) at any stage of the autophagic process vs. those that measure flux through the autophagy pathway (i.e., the complete process); thus, a block in macroautophagy that results in autophagosome accumulation needs to be differentiated from stimuli that result in increased autophagic activity, defined as increased autophagy induction coupled with increased delivery to, and degradation within, lysosomes (in most higher eukaryotes and some protists such as Dictyostelium) or the vacuole (in plants and fungi). In other words, it is especially important that investigators new to the field understand that the appearance of more autophagosomes does not necessarily equate with more autophagy. In fact, in many cases, autophagosomes accumulate because of a block in trafficking to lysosomes without a concomitant change in autophagosome biogenesis, whereas an increase in autolysosomes may reflect a reduction in degradative activity. Here, we present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes. These guidelines are not meant to be a formulaic set of rules, because the appropriate assays depend in part on the question being asked and the system being used. In addition, we emphasize that no individual assay is guaranteed to be the most appropriate one in every situation, and we strongly recommend the use of multiple assays to monitor autophagy. In these guidelines, we consider these various methods of assessing autophagy and what information can, or cannot, be obtained from them. Finally, by discussing the merits and limits of particular autophagy assays, we hope to encourage technical innovation in the field.
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11.
  • Forouzanfar, Mohammad H, et al. (author)
  • Global, regional, and national comparative risk assessment of 79 behavioural, environmental and occupational, and metabolic risks or clusters of risks in 188 countries, 1990-2013 : a systematic analysis for the Global Burden of Disease Study 2013.
  • 2015
  • In: The Lancet. - 0140-6736 .- 1474-547X. ; 386:10010, s. 2287-2323
  • Journal article (peer-reviewed)abstract
    • BACKGROUND: The Global Burden of Disease, Injuries, and Risk Factor study 2013 (GBD 2013) is the first of a series of annual updates of the GBD. Risk factor quantification, particularly of modifiable risk factors, can help to identify emerging threats to population health and opportunities for prevention. The GBD 2013 provides a timely opportunity to update the comparative risk assessment with new data for exposure, relative risks, and evidence on the appropriate counterfactual risk distribution.METHODS: Attributable deaths, years of life lost, years lived with disability, and disability-adjusted life-years (DALYs) have been estimated for 79 risks or clusters of risks using the GBD 2010 methods. Risk-outcome pairs meeting explicit evidence criteria were assessed for 188 countries for the period 1990-2013 by age and sex using three inputs: risk exposure, relative risks, and the theoretical minimum risk exposure level (TMREL). Risks are organised into a hierarchy with blocks of behavioural, environmental and occupational, and metabolic risks at the first level of the hierarchy. The next level in the hierarchy includes nine clusters of related risks and two individual risks, with more detail provided at levels 3 and 4 of the hierarchy. Compared with GBD 2010, six new risk factors have been added: handwashing practices, occupational exposure to trichloroethylene, childhood wasting, childhood stunting, unsafe sex, and low glomerular filtration rate. For most risks, data for exposure were synthesised with a Bayesian meta-regression method, DisMod-MR 2.0, or spatial-temporal Gaussian process regression. Relative risks were based on meta-regressions of published cohort and intervention studies. Attributable burden for clusters of risks and all risks combined took into account evidence on the mediation of some risks such as high body-mass index (BMI) through other risks such as high systolic blood pressure and high cholesterol.FINDINGS: All risks combined account for 57·2% (95% uncertainty interval [UI] 55·8-58·5) of deaths and 41·6% (40·1-43·0) of DALYs. Risks quantified account for 87·9% (86·5-89·3) of cardiovascular disease DALYs, ranging to a low of 0% for neonatal disorders and neglected tropical diseases and malaria. In terms of global DALYs in 2013, six risks or clusters of risks each caused more than 5% of DALYs: dietary risks accounting for 11·3 million deaths and 241·4 million DALYs, high systolic blood pressure for 10·4 million deaths and 208·1 million DALYs, child and maternal malnutrition for 1·7 million deaths and 176·9 million DALYs, tobacco smoke for 6·1 million deaths and 143·5 million DALYs, air pollution for 5·5 million deaths and 141·5 million DALYs, and high BMI for 4·4 million deaths and 134·0 million DALYs. Risk factor patterns vary across regions and countries and with time. In sub-Saharan Africa, the leading risk factors are child and maternal malnutrition, unsafe sex, and unsafe water, sanitation, and handwashing. In women, in nearly all countries in the Americas, north Africa, and the Middle East, and in many other high-income countries, high BMI is the leading risk factor, with high systolic blood pressure as the leading risk in most of Central and Eastern Europe and south and east Asia. For men, high systolic blood pressure or tobacco use are the leading risks in nearly all high-income countries, in north Africa and the Middle East, Europe, and Asia. For men and women, unsafe sex is the leading risk in a corridor from Kenya to South Africa.INTERPRETATION: Behavioural, environmental and occupational, and metabolic risks can explain half of global mortality and more than one-third of global DALYs providing many opportunities for prevention. Of the larger risks, the attributable burden of high BMI has increased in the past 23 years. In view of the prominence of behavioural risk factors, behavioural and social science research on interventions for these risks should be strengthened. Many prevention and primary care policy options are available now to act on key risks.FUNDING: Bill & Melinda Gates Foundation.
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12.
  • Naghavi, Mohsen, et al. (author)
  • Global, regional, and national age-sex specific all-cause and cause-specific mortality for 240 causes of death, 1990-2013: a systematic analysis for the Global Burden of Disease Study 2013
  • 2015
  • In: The Lancet. - 1474-547X .- 0140-6736. ; 385:9963, s. 117-171
  • Journal article (peer-reviewed)abstract
    • Background Up-to-date evidence on levels and trends for age-sex-specifi c all-cause and cause-specifi c mortality is essential for the formation of global, regional, and national health policies. In the Global Burden of Disease Study 2013 (GBD 2013) we estimated yearly deaths for 188 countries between 1990, and 2013. We used the results to assess whether there is epidemiological convergence across countries. Methods We estimated age-sex-specifi c all-cause mortality using the GBD 2010 methods with some refinements to improve accuracy applied to an updated database of vital registration, survey, and census data. We generally estimated cause of death as in the GBD 2010. Key improvements included the addition of more recent vital registration data for 72 countries, an updated verbal autopsy literature review, two new and detailed data systems for China, and more detail for Mexico, UK, Turkey, and Russia. We improved statistical models for garbage code redistribution. We used six different modelling strategies across the 240 causes; cause of death ensemble modelling (CODEm) was the dominant strategy for causes with sufficient information. Trends for Alzheimer's disease and other dementias were informed by meta-regression of prevalence studies. For pathogen-specifi c causes of diarrhoea and lower respiratory infections we used a counterfactual approach. We computed two measures of convergence (inequality) across countries: the average relative difference across all pairs of countries (Gini coefficient) and the average absolute difference across countries. To summarise broad findings, we used multiple decrement life-tables to decompose probabilities of death from birth to exact age 15 years, from exact age 15 years to exact age 50 years, and from exact age 50 years to exact age 75 years, and life expectancy at birth into major causes. For all quantities reported, we computed 95% uncertainty intervals (UIs). We constrained cause-specific fractions within each age-sex-country-year group to sum to all-cause mortality based on draws from the uncertainty distributions. Findings Global life expectancy for both sexes increased from 65.3 years (UI 65.0-65.6) in 1990, to 71.5 years (UI 71.0-71.9) in 2013, while the number of deaths increased from 47.5 million (UI 46.8-48.2) to 54.9 million (UI 53.6-56.3) over the same interval. Global progress masked variation by age and sex: for children, average absolute diff erences between countries decreased but relative diff erences increased. For women aged 25-39 years and older than 75 years and for men aged 20-49 years and 65 years and older, both absolute and relative diff erences increased. Decomposition of global and regional life expectancy showed the prominent role of reductions in age-standardised death rates for cardiovascular diseases and cancers in high-income regions, and reductions in child deaths from diarrhoea, lower respiratory infections, and neonatal causes in low-income regions. HIV/AIDS reduced life expectancy in southern sub-Saharan Africa. For most communicable causes of death both numbers of deaths and age-standardised death rates fell whereas for most non-communicable causes, demographic shifts have increased numbers of deaths but decreased age-standardised death rates. Global deaths from injury increased by 10.7%, from 4.3 million deaths in 1990 to 4.8 million in 2013; but age-standardised rates declined over the same period by 21%. For some causes of more than 100 000 deaths per year in 2013, age-standardised death rates increased between 1990 and 2013, including HIV/AIDS, pancreatic cancer, atrial fibrillation and flutter, drug use disorders, diabetes, chronic kidney disease, and sickle-cell anaemias. Diarrhoeal diseases, lower respiratory infections, neonatal causes, and malaria are still in the top five causes of death in children younger than 5 years. The most important pathogens are rotavirus for diarrhoea and pneumococcus for lower respiratory infections. Country-specific probabilities of death over three phases of life were substantially varied between and within regions. Interpretation For most countries, the general pattern of reductions in age-sex specifi c mortality has been associated with a progressive shift towards a larger share of the remaining deaths caused by non-communicable disease and injuries. Assessing epidemiological convergence across countries depends on whether an absolute or relative measure of inequality is used. Nevertheless, age-standardised death rates for seven substantial causes are increasing, suggesting the potential for reversals in some countries. Important gaps exist in the empirical data for cause of death estimates for some countries; for example, no national data for India are available for the past decade.
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13.
  • Locke, Adam E, et al. (author)
  • Genetic studies of body mass index yield new insights for obesity biology.
  • 2015
  • In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 197-401
  • Journal article (peer-reviewed)abstract
    • Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.
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14.
  • Vos, Theo, et al. (author)
  • Global, regional, and national incidence, prevalence, and years lived with disability for 301 acute and chronic diseases and injuries in 188 countries, 1990-2013: a systematic analysis for the Global Burden of Disease Study 2013
  • 2015
  • In: The Lancet. - 1474-547X .- 0140-6736. ; 386:9995, s. 743-800
  • Journal article (peer-reviewed)abstract
    • Background Up-to-date evidence about levels and trends in disease and injury incidence, prevalence, and years lived with disability (YLDs) is an essential input into global, regional, and national health policies. In the Global Burden of Disease Study 2013 (GBD 2013), we estimated these quantities for acute and chronic diseases and injuries for 188 countries between 1990 and 2013. Methods Estimates were calculated for disease and injury incidence, prevalence, and YLDs using GBD 2010 methods with some important refinements. Results for incidence of acute disorders and prevalence of chronic disorders are new additions to the analysis. Key improvements include expansion to the cause and sequelae list, updated systematic reviews, use of detailed injury codes, improvements to the Bayesian meta-regression method (DisMod-MR), and use of severity splits for various causes. An index of data representativeness, showing data availability, was calculated for each cause and impairment during three periods globally and at the country level for 2013. In total, 35 620 distinct sources of data were used and documented to calculated estimates for 301 diseases and injuries and 2337 sequelae. The comorbidity simulation provides estimates for the number of sequelae, concurrently, by individuals by country, year, age, and sex. Disability weights were updated with the addition of new population-based survey data from four countries. Findings Disease and injury were highly prevalent; only a small fraction of individuals had no sequelae. Comorbidity rose substantially with age and in absolute terms from 1990 to 2013. Incidence of acute sequelae were predominantly infectious diseases and short-term injuries, with over 2 billion cases of upper respiratory infections and diarrhoeal disease episodes in 2013, with the notable exception of tooth pain due to permanent caries with more than 200 million incident cases in 2013. Conversely, leading chronic sequelae were largely attributable to non-communicable diseases, with prevalence estimates for asymptomatic permanent caries and tension-type headache of 2.4 billion and 1.6 billion, respectively. The distribution of the number of sequelae in populations varied widely across regions, with an expected relation between age and disease prevalence. YLDs for both sexes increased from 537.6 million in 1990 to 764.8 million in 2013 due to population growth and ageing, whereas the age-standardised rate decreased little from 114.87 per 1000 people to 110.31 per 1000 people between 1990 and 2013. Leading causes of YLDs included low back pain and major depressive disorder among the top ten causes of YLDs in every country. YLD rates per person, by major cause groups, indicated the main drivers of increases were due to musculoskeletal, mental, and substance use disorders, neurological disorders, and chronic respiratory diseases; however HIV/AIDS was a notable driver of increasing YLDs in sub-Saharan Africa. Also, the proportion of disability-adjusted life years due to YLDs increased globally from 21.1% in 1990 to 31.2% in 2013. Interpretation Ageing of the world's population is leading to a substantial increase in the numbers of individuals with sequelae of diseases and injuries. Rates of YLDs are declining much more slowly than mortality rates. The non-fatal dimensions of disease and injury will require more and more attention from health systems. The transition to non-fatal outcomes as the dominant source of burden of disease is occurring rapidly outside of sub-Saharan Africa. Our results can guide future health initiatives through examination of epidemiological trends and a better understanding of variation across countries.
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15.
  • Kehoe, Laura, et al. (author)
  • Make EU trade with Brazil sustainable
  • 2019
  • In: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 364:6438, s. 341-
  • Journal article (other academic/artistic)
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16.
  • Mercuri, E., et al. (author)
  • Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study
  • 2020
  • In: Journal of Comparative Effectiveness Research. - : Becaris Publishing Limited. - 2042-6305 .- 2042-6313. ; 9:5, s. 341-360
  • Journal article (peer-reviewed)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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17.
  • Amelino-Camelia, G., et al. (author)
  • Physics with the KLOE-2 experiment at the upgraded DA Phi NE
  • 2010
  • In: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 68:3-4, s. 619-681
  • Research review (peer-reviewed)abstract
    • Investigation at a f-factory can shed light on several debated issues in particle physics. We discuss: (i) recent theoretical development and experimental progress in kaon physics relevant for the Standard Model tests in the flavor sector, (ii) the sensitivity we can reach in probing CPT and Quantum Mechanics from time evolution of entangled-kaon states, (iii) the interest for improving on the present measurements of non-leptonic and radiative decays of kaons and eta/eta' mesons, (iv) the contribution to understand the nature of light scalar mesons, and (v) the opportunity to search for narrow di-lepton resonances suggested by recent models proposing a hidden dark-matter sector. We also report on the e(+)e(-) physics in the continuum with the measurements of (multi) hadronic cross sections and the study of gamma gamma processes.
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18.
  • Anastasi, A., et al. (author)
  • Combination of KLOE sigma (e(+) e(-) -> pi(+)pi(-) gamma(gamma)) measurements and determination of a(mu)(pi+pi-) in the energy range 0.10 < s < 0.95 GeV2
  • 2018
  • In: Journal of High Energy Physics (JHEP). - : Springer. - 1126-6708 .- 1029-8479. ; :3
  • Journal article (peer-reviewed)abstract
    • The three precision measurements of the cross section sigma (e(+)e(-) -> pi(+)pi(-)gamma(gamma)) using initial state radiation by the KLOE collaboration provide an important input for the prediction of the hadronic contribution to the anomalous magnetic moment of the muon. These measurements are correlated for both statistical and systematic uncertainties and, therefore, the simultaneous use of these measurements requires covariance matrices that fully describe the correlations. We present the construction of these covariance matrices and use them to determine a combined KLOE measurement for sigma (e(+)e(-) -> pi(+)pi(-)gamma(gamma)). We find, from this combination, a two-pion contribution to the muon magnetic anomaly in the energy range 0.10 < s < 0.95 GeV2 of a(mu)(pi+pi-) (489.8 +/- 1.7(stat) +/- 4.8(sys)) x 10(-10).
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19.
  • Babusci, D., et al. (author)
  • Precision tests of quantum mechanics and CPT symmetry with entangled neutral kaons at KLOE
  • 2022
  • In: Journal of High Energy Physics (JHEP). - : Springer Nature. - 1126-6708 .- 1029-8479.
  • Journal article (peer-reviewed)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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20.
  • Anastasi, A., et al. (author)
  • Combined limit on the production of a light gauge boson decaying into mu(+) mu(-) and pi(+) pi(-)
  • 2018
  • In: Physics Letters B. - : ELSEVIER SCIENCE BV. - 0370-2693 .- 1873-2445. ; 784, s. 336-341
  • Journal article (peer-reviewed)abstract
    • We searched for the mu(+) mu(-) decay of a light vector gauge boson, also known as dark photon, in the e(+) e(-) -> mu(+) mu(-) gamma(ISR) process by means of the Initial State Radiation (ISR) method. We used 1.93fb(-1) of data collected by the KLOE experiment at the DA Phi NE phi-factory. No structures have been observed over the irreducible mu(+) mu(-) background. A 90% CL limit on the ratio epsilon(2)= alpha'/alpha between the dark coupling constant and the fine structure constant of 3 x 10(-6)-2 x 10(-7) has been set in the dark photon mass region between 519 MeV and 973 MeV. This new limit has been combined with the published result obtained investigating the hypothesis of the dark photon decaying into hadrons in e(+) e(-) -> pi(+) pi(-) gamma(ISR) events. The combined 90% CL limit increases the sensitivity especially in the rho-omega interference region and excludes epsilon(2) greater than (13 - 2) x 10(-7). For dark photon masses greater than 600 MeV the combined limit is lower than 8 x 10(-7) resulting more stringent than present constraints from other experiments.
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21.
  • Anastasi, A., et al. (author)
  • Measurement of the charge asymmetry for the K-S -> pi e nu decay and test of CPT symmetry with the KLOE detector
  • 2018
  • In: Journal of High Energy Physics (JHEP). - : SPRINGER. - 1126-6708 .- 1029-8479. ; :9
  • Journal article (peer-reviewed)abstract
    • Using 1.63 fb(-1) of integrated luminosity collected by the KLOE experiment about 7 x 10(4) K-S -> pi(+/-)e(-/+)nu decays have been reconstructed. The measured value of the charge asymmetry for this decay is A(S) = (-4.9 +/- 5.7(stat) +/- 2.6(syst)) x 10(-3) which is almost twice more precise than the previous KLOE result. The combination of these two measurements gives A(S) = (3.8 +/- 5.0(stat) +/- 2.6(syst)) x 10(-3) and, together with the asymmetry of the K-L semileptonic decay, provides significant tests of the CPT symmetry. The obtained results are in agreement with CPT invariance.
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22.
  • Babusci, D., et al. (author)
  • Direct tests of T, CP, CPT symmetries in transitions of neutral K mesons with the KLOE experiment
  • 2023
  • In: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 845
  • Journal article (peer-reviewed)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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23.
  • Babusci, D., et al. (author)
  • Measurement of the branching fraction for the decay K-S -> pi mu nu with the KLOE detector
  • 2020
  • In: Physics Letters B. - : ELSEVIER. - 0370-2693 .- 1873-2445. ; 804
  • Journal article (peer-reviewed)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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24.
  • Babusci, D., et al. (author)
  • Measurement of the K-S ? : pe? branching fraction with the KLOE experiment
  • 2023
  • In: Journal of High Energy Physics (JHEP). - : Springer Nature. - 1126-6708 .- 1029-8479. ; :2
  • Journal article (peer-reviewed)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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25.
  • Babusci, D., et al. (author)
  • Upper limit on the eta -> pi(+)pi(-) branching fraction with the KLOE experiment
  • 2020
  • In: Journal of High Energy Physics (JHEP). - : SPRINGER. - 1126-6708 .- 1029-8479. ; :10
  • Journal article (peer-reviewed)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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26.
  • Zamora, Juan Carlos, et al. (author)
  • Considerations and consequences of allowing DNA sequence data as types of fungal taxa
  • 2018
  • In: IMA Fungus. - : INT MYCOLOGICAL ASSOC. - 2210-6340 .- 2210-6359. ; 9:1, s. 167-185
  • Journal article (peer-reviewed)abstract
    • Nomenclatural type definitions are one of the most important concepts in biological nomenclature. Being physical objects that can be re-studied by other researchers, types permanently link taxonomy (an artificial agreement to classify biological diversity) with nomenclature (an artificial agreement to name biological diversity). Two proposals to amend the International Code of Nomenclature for algae, fungi, and plants (ICN), allowing DNA sequences alone (of any region and extent) to serve as types of taxon names for voucherless fungi (mainly putative taxa from environmental DNA sequences), have been submitted to be voted on at the 11th International Mycological Congress (Puerto Rico, July 2018). We consider various genetic processes affecting the distribution of alleles among taxa and find that alleles may not consistently and uniquely represent the species within which they are contained. Should the proposals be accepted, the meaning of nomenclatural types would change in a fundamental way from physical objects as sources of data to the data themselves. Such changes are conducive to irreproducible science, the potential typification on artefactual data, and massive creation of names with low information content, ultimately causing nomenclatural instability and unnecessary work for future researchers that would stall future explorations of fungal diversity. We conclude that the acceptance of DNA sequences alone as types of names of taxa, under the terms used in the current proposals, is unnecessary and would not solve the problem of naming putative taxa known only from DNA sequences in a scientifically defensible way. As an alternative, we highlight the use of formulas for naming putative taxa (candidate taxa) that do not require any modification of the ICN.
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27.
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28.
  • Babusci, D., et al. (author)
  • Precision measurement of sigma (e(+)e(-) -> pi(+)pi(-)gamma)/sigma(e(+)e(-) ->mu(+)mu(-)gamma) and determination of the pi(+)pi(-) contribution to the muon anomaly with the KLOE detector
  • 2013
  • In: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 720:4-5, s. 336-343
  • Journal article (peer-reviewed)abstract
    • We have measured the ratio cr (e(+)e(-) -> pi(+)pi(-)gamma)/sigma(e(+)e(-) -> mu(+)mu(-)gamma), with the KLOE detector at DA Phi NE for a total integrated luminosity of similar to 240 pb(-1). From this ratio we obtain the cross section sigma (e(+)e(-) -> pi(+)pi(-)gamma). From the cross section we determine the pion form factor vertical bar F-pi vertical bar(2) and the two-pion contribution to the muon anomaly a(mu) for 0.592< M-pi pi < 0.975 GeV, Delta(pi pi) a(mu) = (385.1 +/- 1.1(stat) +/- 2.7(sys+theo)) x 10(-10). This result confirms the current discrepancy between the Standard Model calculation and the experimental measurement of the muon anomaly. (c) 2013 Elsevier B.V. All rights reserved.
  •  
29.
  • Sampson, Joshua N., et al. (author)
  • Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for 13 Cancer Types
  • 2015
  • In: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 0027-8874 .- 1460-2105. ; 107:12
  • Journal article (peer-reviewed)abstract
    • Background: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites. Methods: Between 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers. Results: GWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, h(l)(2), on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% confidence interval [CI] = 14% to 37%) and 7% (95% CI = 4% to 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (rho = 0.73, SE = 0.28), diffuse large B-cell lymphoma (DLBCL) and pediatric osteosarcoma (rho = 0.53, SE = 0.21), DLBCL and chronic lymphocytic leukemia (CLL) (rho = 0.51, SE = 0.18), and bladder and lung (rho = 0.35, SE = 0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a nonsmoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures. Conclusion: Our results provide important insights into the genetic architecture of cancers and suggest new avenues for investigation.
  •  
30.
  • Vergallo, A., et al. (author)
  • Plasma amyloid beta 40/42 ratio predicts cerebral amyloidosis in cognitively normal individuals at risk for Alzheimer's disease
  • 2019
  • In: Alzheimers & Dementia. - : Wiley. - 1552-5260 .- 1552-5279. ; 15:6, s. 764-775
  • Journal article (peer-reviewed)abstract
    • Introduction: Blood-based biomarkers of pathophysiological brain amyloid beta (A beta) accumulation, particularly for preclinical target and large-scale interventions, are warranted to effectively enrich Alzheimer's disease clinical trials and management. Methods: We investigated whether plasma concentrations of the A beta(1-40)/A beta(1-42) ratio, assessed using the single-molecule array (Simoa) immunoassay, may predict brain A beta positron emission tomography status in a large-scale longitudinal monocentric cohort (N = 276) of older individuals with subjective memory complaints. We performed a hypothesis-driven investigation followed by a no-apriori hypothesis study using machine learning. Results: The receiver operating characteristic curve and machine learning showed a balanced accuracy of 76.5% and 81%, respectively, for the plasma A beta(1-40)/A beta(1-42) ratio. The accuracy is not affected by the apolipoprotein E (APOE) epsilon 4 allele, sex, or age. Discussion: Our results encourage an independent validation cohort study to confirm the indication that the plasma A beta(1-40)/A beta(1-42) ratio, assessed via Simoa, may improve future standard of care and clinical trial design. (C) 2019 the Alzheimer's Association. Published by Elsevier Inc. All rights reserved.
  •  
31.
  • Ademuyiwa, Adesoji O., et al. (author)
  • Determinants of morbidity and mortality following emergency abdominal surgery in children in low-income and middle-income countries
  • 2016
  • In: BMJ Global Health. - : BMJ Publishing Group Ltd. - 2059-7908. ; 1:4
  • Journal article (peer-reviewed)abstract
    • Background: Child health is a key priority on the global health agenda, yet the provision of essential and emergency surgery in children is patchy in resource-poor regions. This study was aimed to determine the mortality risk for emergency abdominal paediatric surgery in low-income countries globally.Methods: Multicentre, international, prospective, cohort study. Self-selected surgical units performing emergency abdominal surgery submitted prespecified data for consecutive children aged <16 years during a 2-week period between July and December 2014. The United Nation's Human Development Index (HDI) was used to stratify countries. The main outcome measure was 30-day postoperative mortality, analysed by multilevel logistic regression.Results: This study included 1409 patients from 253 centres in 43 countries; 282 children were under 2 years of age. Among them, 265 (18.8%) were from low-HDI, 450 (31.9%) from middle-HDI and 694 (49.3%) from high-HDI countries. The most common operations performed were appendectomy, small bowel resection, pyloromyotomy and correction of intussusception. After adjustment for patient and hospital risk factors, child mortality at 30 days was significantly higher in low-HDI (adjusted OR 7.14 (95% CI 2.52 to 20.23), p<0.001) and middle-HDI (4.42 (1.44 to 13.56), p=0.009) countries compared with high-HDI countries, translating to 40 excess deaths per 1000 procedures performed.Conclusions: Adjusted mortality in children following emergency abdominal surgery may be as high as 7 times greater in low-HDI and middle-HDI countries compared with high-HDI countries. Effective provision of emergency essential surgery should be a key priority for global child health agendas.
  •  
32.
  • Anastasi, A., et al. (author)
  • Limit on the production of a low-mass vector boson in e(+)e(-) -> U gamma, U -> e(+)e(-) with the KLOE experiment
  • 2015
  • In: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 750, s. 633-637
  • Journal article (peer-reviewed)abstract
    • The existence of a new force beyond the Standard Model is compelling because it could explain several striking astrophysical observations which fail standard interpretations. We searched for the light vector mediator of this dark force, the U boson, with the KLOE detector at the DA Phi NE e(+)e(-) collider. Using an integrated luminosity of 1.54 fb(-1), we studied the process e(+)e(-) -> U gamma, with U -> e(+)e(-), using radiative return to search for a resonant peak in the dielectron invariant-mass distribution. We did not find evidence for a signal, and set a 90% CL upper limit on the mixing strength between the Standard Model photon and the dark photon, epsilon(2), at 10(-6)-10(-4) in the 5-520 MeV/c(2) mass range.
  •  
33.
  • Anastasi, A., et al. (author)
  • Limit on the production of a new vector boson in e+e− → Uγ, U → π+π− with the KLOE experiment
  • 2016
  • In: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 757, s. 356-361
  • Journal article (peer-reviewed)abstract
    • Abstract The recent interest in a light gauge boson in the framework of an extra U(1) symmetry motivates searches in the mass range below 1 GeV. We present a search for such a particle, the dark photon, in e + e − → U γ , U → π + π − based on 28 million e + e − → π + π − γ events collected at DAΦNE by the KLOE experiment. The π + π − production by initial-state radiation compensates for a loss of sensitivity of previous KLOE U → e + e − , μ + μ − searches due to the small branching ratios in the ρ – ω resonance region. We found no evidence for a signal and set a limit at 90% CL on the mixing strength between the photon and the dark photon, ε 2 , in the U mass range between 527 and 987 MeV . Above 700 MeV this new limit is more stringent than previous ones.
  •  
34.
  • Anastasi, A., et al. (author)
  • Measurement of the running of the fine structure constant below 1 GeV with the KLOE detector
  • 2017
  • In: Physics Letters B. - : ELSEVIER SCIENCE BV. - 0370-2693 .- 1873-2445. ; 767, s. 485-492
  • Journal article (peer-reviewed)abstract
    • We have measured the running of the effective QED coupling constant alpha(s) in the time-like region 0.6 < root s < 0.975 GeV with the KLOE detector at DA Phi NE using the Initial-State Radiation process e(+) e(-) -> mu(+) mu(-)gamma. It represents the first measurement of the running of alpha(s) in this energy region. Our results show a more than 5 sigma significance of the hadronic contribution to the running of alpha(s), which is the strongest direct evidence both in time- and space-like regions achieved in a single measurement. By using the e(+) e(-) -> pi(+) pi(-) cross section measured by KLOE, the real and imaginary parts of the shift Delta alpha(s) have been extracted. From a fit of the real part of Delta alpha(s) and assuming the lepton universality the branching ratio BR(omega -> mu(+) mu(-)) = (6.6 +/- 1.4(stat) +/- 1.7(syst)) (.) 10 (5)has been determined.
  •  
35.
  • Anastasi, A., et al. (author)
  • Precision measurement of the η → π + π − π 0 Dalitz plot distribution with the KLOE detector
  • 2016
  • In: Journal of High Energy Physics (JHEP). - 1126-6708 .- 1029-8479. ; :5
  • Journal article (peer-reviewed)abstract
    • Using 1.6 fb−1 of e + e − → ϕ → ηγ data collected with the KLOE detector at DAΦNE, the Dalitz plot distribution for the η → π + π − π 0 decay is studied with the world’s largest sample of ∼ 4.7 · 106 events. The Dalitz plot density is parametrized as a polynomial expansion up to cubic terms in the normalized dimensionless variables X and Y . The experiment is sensitive to all charge conjugation conserving terms of the expansion, including a gX 2 Y term. The statistical uncertainty of all parameters is improved by a factor two with respect to earlier measurements.
  •  
36.
  • Anastasi, A., et al. (author)
  • Search for dark Higgsstrahlung in e(+0)e(-) -> mu(+)mu(-) and missing energy events with the KLOE experiment
  • 2015
  • In: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 747, s. 365-372
  • Journal article (peer-reviewed)abstract
    • We searched for evidence of a Higgsstrahlung process in a secluded sector, leading to a final state with a dark photon U and a dark Higgs boson h', with the KLOE detector at DA Phi NE. We investigated the case of h' lighter than U, with U decaying into a muon pair and h' producing a missing energy signature. We found no evidence of the process and set upper limits to its parameters in the range 2m(mu) < m(U) < 1000 MeV, m(h') < m(U). (C) 2015 The Authors. Published by Elsevier B.V.
  •  
37.
  • Archilli, F., et al. (author)
  • Search for a vector gauge boson in phi meson decays with the KLOE detector KLOE-2 Collaboration
  • 2012
  • In: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 706:4-5, s. 251-255
  • Journal article (peer-reviewed)abstract
    • The existence of a light dark force mediator has been tested with the KLOE detector at DA Phi NE. This particle, called U. is searched for using the decay chain phi -> eta U, eta -> pi(+)pi(-)pi(0), U -> e(+)e(-). No evidence is found in 1.5 fb(-1) of data. The resulting exclusion plot covers the mass range 5 < M-U < 470 MeV, setting an upper limit on the ratio between the U boson coupling constant and the One structure constant, alpha'/alpha, of <= 2 x 10(-5) at 90% C.L. for 50 < M-U < 420 MeV.
  •  
38.
  • Babusci, D., et al. (author)
  • Search for light vector boson production in e(+)e(-) -> mu(+)mu(-)gamma interactions with the KLOE experiment
  • 2014
  • In: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 736, s. 459-464
  • Journal article (peer-reviewed)abstract
    • We have searched for a light vector boson U, the possible carrier of a "dark force", with the KLOE detector at the DA Phi NE e(+)e(-) collider, motivated by astrophysical evidence for the presence of dark matter in the Universe. Using e(+)e(-) collisions collected with an integrated luminosity of 239.3 pb(-1), we look for a dimuon mass peak in the reaction e(+)e(-) -> mu(+)mu(-)gamma, corresponding to the decay U -> mu(+)mu(-). We find no evidence for a U vector boson signal. We set a 90% CL upper limit for the mixing parameter squared between the photon and the U boson of 1.6 x 10(-5) to 8.6 x 10(-7) for the mass region 520 < m(U) < 980 MeV.  
  •  
39.
  • Babusci, D., et al. (author)
  • Test of CPT and Lorentz symmetry in entangled neutral kaons with the KLOE experiment
  • 2014
  • In: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 730, s. 89-94
  • Journal article (peer-reviewed)abstract
    • Neutral kaon pairs produced in phi decays in anti-symmetric entangled state can be exploited to search for violation of CPT symmetry and Lorentz invariance. We present an analysis of the CP-violating process phi -> KSKL -> pi(+)pi(-)pi(+)pi(-) based on 1.7 fb(-1) of data collected by the KLOE experiment at the Frascati phi-factory DA Phi NE. The data are used to perform a Measurement of the CPT-violating parameters Delta a(mu) for neutral kaons in the context of the Standard Model Extension framework. The parameters measured in the reference frame of the fixed stars are: Delta a(0) = (-6.0 +/- 7.7(stat)+/- 3.1(syst)) X 10(-18) GeV, Delta a(x) = (0.9 +/- 1.5(stat)+/- 0.6(syst)) X 10(-18) GeV, Delta a(y) = (-2.0 +/- 1.5(stat)+/- 0.5(syst)) X 10(-18) GeV, Delta a(z) = (3.1 +/- 1.7(stat)+/- 0.5(syst)) X 10(-18) GeV. These are presently the most precise measurements in the quark sector of the Standard Model Extension. (C) 2014 The Authors. Published by Elsevier B.V.
  •  
40.
  • Babuscih, D., et al. (author)
  • Measurement of the absolute branching ratio of the K+ -> pi(+) pi(-) pi(+) (gamma) decay with the KLOE detector
  • 2014
  • In: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 738, s. 128-133
  • Journal article (peer-reviewed)abstract
    • The absolute branching ratio of the K+ -> pi(+) pi(-) pi(+) (gamma) decay, inclusive of final-state radiation, has been measured using similar to 17 million tagged K+ mesons collected with the KLOE detector at DA Phi NE, the Frascati phi-factory. The result is: BR(K+ -> pi(+) pi(-) pi(+) (gamma)) = 0.05565 +/- 0.00031(stat) +/- 0.00025(syst) a factor similar or equal to 5 more precise with respect to the previous result. This work completes the program of precision measurements of the dominant kaon branching ratios at KLOE.
  •  
41.
  • Jung, Christian, et al. (author)
  • A comparison of very old patients admitted to intensive care unit after acute versus elective surgery or intervention
  • 2019
  • In: Journal of critical care. - : W B SAUNDERS CO-ELSEVIER INC. - 0883-9441 .- 1557-8615. ; 52, s. 141-148
  • Journal article (peer-reviewed)abstract
    • Background: We aimed to evaluate differences in outcome between patients admitted to intensive care unit (ICU) after elective versus acute surgery in a multinational cohort of very old patients (80 years; VIP). Predictors of mortality, with special emphasis on frailty, were assessed.Methods: In total, 5063 VIPs were induded in this analysis, 922 were admitted after elective surgery or intervention, 4141 acutely, with 402 after acute surgery. Differences were calculated using Mann-Whitney-U test and Wilcoxon test. Univariate and multivariable logistic regression were used to assess associations with mortality.Results: Compared patients admitted after acute surgery, patients admitted after elective surgery suffered less often from frailty as defined as CFS (28% vs 46%; p < 0.001), evidenced lower SOFA scores (4 +/- 5 vs 7 +/- 7; p < 0.001). Presence of frailty (CFS >4) was associated with significantly increased mortality both in elective surgery patients (7% vs 12%; p = 0.01), in acute surgery (7% vs 12%; p = 0.02).Conclusions: VIPs admitted to ICU after elective surgery evidenced favorable outcome over patients after acute surgery even after correction for relevant confounders. Frailty might be used to guide clinicians in risk stratification in both patients admitted after elective and acute surgery. 
  •  
42.
  • Nicolas, Aude, et al. (author)
  • Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
  • 2018
  • In: Neuron. - : Cell Press. - 0896-6273 .- 1097-4199. ; 97:6, s. 1268-1283.e6
  • Journal article (peer-reviewed)abstract
    • To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.
  •  
43.
  • Vergallo, A., et al. (author)
  • Association of plasma YKL-40 with brain amyloid-β levels, memory performance, and sex in subjective memory complainers
  • 2020
  • In: Neurobiology of Aging. - : Elsevier BV. - 0197-4580. ; 96, s. 22-32
  • Journal article (peer-reviewed)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.
  •  
44.
  • Babusci, D., et al. (author)
  • A new limit on the CP violating decay K-S -> 3 pi(0) with the KLOE experiment
  • 2013
  • In: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 723:1-3, s. 54-60
  • Journal article (peer-reviewed)abstract
    • We have carried out a new direct search for the CP violating decay K-S -> 3 pi(0) with 1.7 fb(-1) of e(+)e(-) collisions collected by the KLOE detector at the Phi-factory DA Phi NE. We have searched for this decay in a sample of about 5.9 x 10(8) KSKL events tagging the K-S by means of the K-L interaction in the calorimeter and requiring six prompt photons. With respect to our previous search, the analysis has been improved by increasing of a factor four the tagged sample and by a more effective background rejection of fake K-S tags and spurious clusters. We find no candidates in data and simulated background samples, while we expect 0.12 standard model events. Normalizing to the number of K-S -> 2 pi(0) events in the same sample, we set the upper limit on BR(K-S -> 3 pi(0)) <= 2.6 x 10(-8) at 90% C.L., five times lower than the previous limit. We also set the upper limit on the eta(000) parameter, vertical bar eta(000)vertical bar <= 0.0088 at 90% C.L., improving by a factor two the latest direct measurement. (c) 2013 Elsevier B.V. All rights reserved.
  •  
45.
  • Babusci, D., et al. (author)
  • Measurement of Γ(η→π+π-γ)/Γ(η→π+π-π0) with the KLOE detector
  • 2013
  • In: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 718:3, s. 910-914
  • Journal article (peer-reviewed)abstract
    • The ratio Rη=Γ(η→π+π-γ)/Γ(η→π+π-π0) has been measured by analysing 22 million φ→ηγ decays collected by the KLOE experiment at DAΦNE, corresponding to an integrated luminosity of 558 pb-1. The η→π+π-γ proceeds both via the ρ resonant contribution, and possibly a non-resonant direct term, connected to the box anomaly. Our result, Rη=0.1856±0.0005stat±0.0028syst, points out a sizable contribution of the direct term to the total width. The di-pion invariant mass for the η→π+π-γ decay could be described in a model-independent approach in terms of a single free parameter, α. The determined value of the parameter α is α=(1.32±0.08stat-0.09syst+0.10±0.02theo) GeV-2.
  •  
46.
  • Cruz, Raquel, et al. (author)
  • Novel genes and sex differences in COVID-19 severity
  • 2022
  • In: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 31:22, s. 3789-3806
  • Journal article (peer-reviewed)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.
  •  
47.
  • van der Harst, Pim, et al. (author)
  • Seventy-five genetic loci influencing the human red blood cell
  • 2012
  • In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 492:7429, s. 369-375
  • Journal article (peer-reviewed)abstract
    • Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. To understand further the genetic factors influencing red blood cells, we carried out a genome-wide association study of haemoglobin concentration and related parameters in up to 135,367 individuals. Here we identify 75 independent genetic loci associated with one or more red blood cell phenotypes at P < 10(-8), which together explain 4-9% of the phenotypic variance per trait. Using expression quantitative trait loci and bioinformatic strategies, we identify 121 candidate genes enriched in functions relevant to red blood cell biology. The candidate genes are expressed preferentially in red blood cell precursors, and 43 have haematopoietic phenotypes in Mus musculus or Drosophila melanogaster. Through open-chromatin and coding-variant analyses we identify potential causal genetic variants at 41 loci. Our findings provide extensive new insights into genetic mechanisms and biological pathways controlling red blood cell formation and function.
  •  
48.
  • Babusci, D., et al. (author)
  • Limit on the production of a light vector gauge boson in phi meson decays with the KLOE detector
  • 2013
  • In: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 720:1-3, s. 111-115
  • Journal article (peer-reviewed)abstract
    • We present a new limit on the production of a light dark-force mediator with the KLOE detector at DA Phi NE. This boson, called U, has been searched for in the decay phi -> eta U, U -> e(+)e(-), analyzing the. decay eta -> pi(0)pi(0)pi(0) in a data sample of 1.7 fb(-1). No structures are observed in the e(+)e(-) invariant mass distribution over the background. This search is combined with a previous result obtained from the decay eta -> pi(+)pi(-)pi(0), increasing the sensitivity. We set an upper limit at 90% C.L. on the ratio between the U boson coupling constant and the fine structure constant of alpha'/alpha < 1.7 x 10(-5) for 30 < M-U < 400 MeV and alpha'/alpha <= 8 x 10(-6) for the sub-region 50 < M-U <210 MeV. This result assumes the Vector Meson Dominance expectations for the phi eta gamma* transition form factor. The dependence of this limit on the transition form factor has also been studied.
  •  
49.
  • Babusci, D., et al. (author)
  • Measurement of eta meson production in gamma gamma interactions and Gamma(eta -> gamma gamma) with the KLOE detector
  • 2013
  • In: Journal of High Energy Physics (JHEP). - 1126-6708 .- 1029-8479. ; :1, s. 119-
  • Journal article (peer-reviewed)abstract
    • We present a measurement of eta meson production in photon-photon interactions produced by electron-positron beams colliding with root s = 1 GeV. The measurement is done with the KLOE detector at the phi-factory DA Phi NE with an integrated luminosity of 0.24 fb(-1). The e(+)e(-) -> e(+)e(-)eta cross section is measured without detecting the outgoing electron and positron, selecting the decays eta -> pi(+)pi(-)pi(0) and eta -> pi(0)pi(0)pi(0). The most relevant background is due to e(+)e(-) -> eta gamma when the monochromatic photon escapes detection. The cross section for this process is measured as sigma(e(+)e(-) -> eta gamma) = (856 +/- 8(stat) +/- 16(syst)) pb. The combined result for the e(+)e(-) -> e(+)e(-)eta cross section is sigma(e(+)e(-) -> e(+)e(-)eta) = (32.72 +/- 1.27(stat) +/- 0.70(syst)) pb. From this we derive the partial width Gamma(eta -> gamma gamma) = (520 +/- 20(stat) +/- 13(syst)) eV. This is in agreement with the world average and is the most precise measurement to date.
  •  
50.
  • Berndt, Sonja I., et al. (author)
  • Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia
  • 2013
  • In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:8, s. 868-U202
  • Journal article (peer-reviewed)abstract
    • Genome-wide association studies (GWAS) have previously identified 13 loci associated with risk of chronic lymphocytic leukemia or small lymphocytic lymphoma (CLL). To identify additional CLL susceptibility loci, we conducted the largest meta-analysis for CLL thus far, including four GWAS with a total of 3,100 individuals with CLL (cases) and 7,667 controls. In the meta-analysis, we identified ten independent associated SNPs in nine new loci at 10q23.31 (ACTA2 or FAS (ACTA2/FAS), P = 1.22 x 10(-14)), 18q21.33 (BCL2, P = 7.76 x 10(-11)), 11p15.5 (C11orf21, P = 2.15 x 10(-10)), 4q25 (LEF1, P = 4.24 x 10(-10)), 2q33.1 (CASP10 or CASP8 (CASP10/CASP8), P = 2.50 x 10(-9)), 9p21.3 (CDKN2B-AS1, P = 1.27 x 10(-8)), 18q21.32 (PMAIP1, P = 2.51 x 10(-8)), 15q15.1 (BMF, P = 2.71 x 10(-10)) and 2p22.2 (QPCT, P = 1.68 x 10(-8)), as well as an independent signal at an established locus (2q13, ACOXL, P = 2.08 x 10(-18)). We also found evidence for two additional promising loci below genome-wide significance at 8q22.3 (ODF1, P = 5.40 x 10(-8)) and 5p15.33 (TERT, P = 1.92 x 10(-7)). Although further studies are required, the proximity of several of these loci to genes involved in apoptosis suggests a plausible underlying biological mechanism.
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