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Sökning: WFRF:(Lamb Martin)

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1.
  • Bravo, L, et al. (författare)
  • 2021
  • swepub:Mat__t
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2.
  • Tabiri, S, et al. (författare)
  • 2021
  • swepub:Mat__t
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  • Glasbey, JC, et al. (författare)
  • 2021
  • swepub:Mat__t
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8.
  • Khatri, C, et al. (författare)
  • Outcomes after perioperative SARS-CoV-2 infection in patients with proximal femoral fractures: an international cohort study
  • 2021
  • Ingår i: BMJ open. - : BMJ. - 2044-6055. ; 11:11, s. e050830-
  • Tidskriftsartikel (refereegranskat)abstract
    • Studies have demonstrated high rates of mortality in people with proximal femoral fracture and SARS-CoV-2, but there is limited published data on the factors that influence mortality for clinicians to make informed treatment decisions. This study aims to report the 30-day mortality associated with perioperative infection of patients undergoing surgery for proximal femoral fractures and to examine the factors that influence mortality in a multivariate analysis.SettingProspective, international, multicentre, observational cohort study.ParticipantsPatients undergoing any operation for a proximal femoral fracture from 1 February to 30 April 2020 and with perioperative SARS-CoV-2 infection (either 7 days prior or 30-day postoperative).Primary outcome30-day mortality. Multivariate modelling was performed to identify factors associated with 30-day mortality.ResultsThis study reports included 1063 patients from 174 hospitals in 19 countries. Overall 30-day mortality was 29.4% (313/1063). In an adjusted model, 30-day mortality was associated with male gender (OR 2.29, 95% CI 1.68 to 3.13, p<0.001), age >80 years (OR 1.60, 95% CI 1.1 to 2.31, p=0.013), preoperative diagnosis of dementia (OR 1.57, 95% CI 1.15 to 2.16, p=0.005), kidney disease (OR 1.73, 95% CI 1.18 to 2.55, p=0.005) and congestive heart failure (OR 1.62, 95% CI 1.06 to 2.48, p=0.025). Mortality at 30 days was lower in patients with a preoperative diagnosis of SARS-CoV-2 (OR 0.6, 95% CI 0.6 (0.42 to 0.85), p=0.004). There was no difference in mortality in patients with an increase to delay in surgery (p=0.220) or type of anaesthetic given (p=0.787).ConclusionsPatients undergoing surgery for a proximal femoral fracture with a perioperative infection of SARS-CoV-2 have a high rate of mortality. This study would support the need for providing these patients with individualised medical and anaesthetic care, including medical optimisation before theatre. Careful preoperative counselling is needed for those with a proximal femoral fracture and SARS-CoV-2, especially those in the highest risk groups.Trial registration numberNCT04323644
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9.
  • 2021
  • swepub:Mat__t
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10.
  • Niemi, MEK, et al. (författare)
  • 2021
  • swepub:Mat__t
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11.
  • 2021
  • swepub:Mat__t
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12.
  • Kanai, M, et al. (författare)
  • 2023
  • swepub:Mat__t
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14.
  • Joffrin, E., et al. (författare)
  • Overview of the JET preparation for deuterium-tritium operation with the ITER like-wall
  • 2019
  • Ingår i: Nuclear Fusion. - : IOP Publishing. - 1741-4326 .- 0029-5515. ; 59:11
  • Forskningsöversikt (refereegranskat)abstract
    • For the past several years, the JET scientific programme (Pamela et al 2007 Fusion Eng. Des. 82 590) has been engaged in a multi-campaign effort, including experiments in D, H and T, leading up to 2020 and the first experiments with 50%/50% D-T mixtures since 1997 and the first ever D-T plasmas with the ITER mix of plasma-facing component materials. For this purpose, a concerted physics and technology programme was launched with a view to prepare the D-T campaign (DTE2). This paper addresses the key elements developed by the JET programme directly contributing to the D-T preparation. This intense preparation includes the review of the physics basis for the D-T operational scenarios, including the fusion power predictions through first principle and integrated modelling, and the impact of isotopes in the operation and physics of D-T plasmas (thermal and particle transport, high confinement mode (H-mode) access, Be and W erosion, fuel recovery, etc). This effort also requires improving several aspects of plasma operation for DTE2, such as real time control schemes, heat load control, disruption avoidance and a mitigation system (including the installation of a new shattered pellet injector), novel ion cyclotron resonance heating schemes (such as the three-ions scheme), new diagnostics (neutron camera and spectrometer, active Alfven eigenmode antennas, neutral gauges, radiation hard imaging systems...) and the calibration of the JET neutron diagnostics at 14 MeV for accurate fusion power measurement. The active preparation of JET for the 2020 D-T campaign provides an incomparable source of information and a basis for the future D-T operation of ITER, and it is also foreseen that a large number of key physics issues will be addressed in support of burning plasmas.
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15.
  • Kattge, Jens, et al. (författare)
  • TRY plant trait database - enhanced coverage and open access
  • 2020
  • Ingår i: Global Change Biology. - : Wiley-Blackwell. - 1354-1013 .- 1365-2486. ; 26:1, s. 119-188
  • Tidskriftsartikel (refereegranskat)abstract
    • Plant traits-the morphological, anatomical, physiological, biochemical and phenological characteristics of plants-determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait-based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits-almost complete coverage for 'plant growth form'. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait-environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives.
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16.
  • Acosta-Herrera, M, et al. (författare)
  • Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases
  • 2019
  • Ingår i: Annals of the rheumatic diseases. - : BMJ. - 1468-2060 .- 0003-4967. ; 78:3, s. 311-319
  • Tidskriftsartikel (refereegranskat)abstract
    • Immune-mediated inflammatory diseases (IMIDs) are heterogeneous and complex conditions with overlapping clinical symptoms and elevated familial aggregation, which suggests the existence of a shared genetic component. In order to identify this genetic background in a systematic fashion, we performed the first cross-disease genome-wide meta-analysis in systemic seropositive rheumatic diseases, namely, systemic sclerosis, systemic lupus erythematosus, rheumatoid arthritis and idiopathic inflammatory myopathies.MethodsWe meta-analysed ~6.5 million single nucleotide polymorphisms in 11 678 cases and 19 704 non-affected controls of European descent populations. The functional roles of the associated variants were interrogated using publicly available databases.ResultsOur analysis revealed five shared genome-wide significant independent loci that had not been previously associated with these diseases: NAB1, KPNA4-ARL14, DGQK, LIMK1 and PRR12. All of these loci are related with immune processes such as interferon and epidermal growth factor signalling, response to methotrexate, cytoskeleton dynamics and coagulation cascade. Remarkably, several of the associated loci are known key players in autoimmunity, which supports the validity of our results. All the associated variants showed significant functional enrichment in DNase hypersensitivity sites, chromatin states and histone marks in relevant immune cells, including shared expression quantitative trait loci. Additionally, our results were significantly enriched in drugs that are being tested for the treatment of the diseases under study.ConclusionsWe have identified shared new risk loci with functional value across diseases and pinpoint new potential candidate loci that could be further investigated. Our results highlight the potential of drug repositioning among related systemic seropositive rheumatic IMIDs.
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17.
  • Brownstein, Catherine A., et al. (författare)
  • An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
  • 2014
  • Ingår i: Genome Biology. - : Springer Science and Business Media LLC. - 1465-6906 .- 1474-760X. ; 15:3, s. R53-
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance. Results: A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization. Conclusions: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups.
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18.
  • Miah, S., et al. (författare)
  • The provision of prostate cancer patient information leaflets on an electronic tablet: A further step to paperless health-care provision
  • 2022
  • Ingår i: Urology Annals. - 0974-7796. ; 14:2, s. 156-161
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction: The provision of patient information leaflets (PILs) for cancer treatment options is primarily via a paper format. PILs can now be provided on an electronic tablet with the added benefits of providing audio-visual information.& nbsp;Materials and Methods: Between February 2017 and August 2019, 112 patients with newly diagnosed prostate cancer (PCa) were enrolled into our prospective cohort study. The control group (n = 56) were all given PILs on a paper as the standard of care (SoC). The intervention (tablet) group (n = 56) were given the same paper PILs as that of the control group plus an electronic tablet computer with an application containing all SoC paper PILs in an electronic format and supplementary videos detailing treatments. Both groups were asked to complete a validated questionnaire (Telemedicine, Satisfaction and Usefulness questionnaire) with regard to satisfaction with care, provided information, and tablet usage.& nbsp;Results: The response rate for our study was 78/112 (70%). The control and tablet groups were highly satisfied with their care (91%-100% agreed or strongly agreed) and with the information they received (80%-100% agreed or strongly agreed). In the tablet group, 41/46 (89%) reported its utilization. Of those 41, 38 (92%) considered the tablet easy to use and 13 (32%) reported a preference for the paper format.& nbsp;Conclusions: The provision of electronic PILs in PCa treatment is an innovative method of providing oncological care, with positive feedback from our patients. With further development as a mobile application, electronic PILs may allow a more environmentally and fiscally advantageous method of providing PCa care.
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20.
  • Tremblay, Mark S, et al. (författare)
  • Sedentary Behavior Research Network (SBRN) - Terminology Consensus Project process and outcome.
  • 2017
  • Ingår i: The international journal of behavioral nutrition and physical activity. - : Springer Science and Business Media LLC. - 1479-5868. ; 14:1
  • Tidskriftsartikel (refereegranskat)abstract
    • The prominence of sedentary behavior research in health science has grown rapidly. With this growth there is increasing urgency for clear, common and accepted terminology and definitions. Such standardization is difficult to achieve, especially across multi-disciplinary researchers, practitioners, and industries. The Sedentary Behavior Research Network (SBRN) undertook a Terminology Consensus Project to address this need.First, a literature review was completed to identify key terms in sedentary behavior research. These key terms were then reviewed and modified by a Steering Committee formed by SBRN. Next, SBRN members were invited to contribute to this project and interested participants reviewed and provided feedback on the proposed list of terms and draft definitions through an online survey. Finally, a conceptual model and consensus definitions (including caveats and examples for all age groups and functional abilities) were finalized based on the feedback received from the 87 SBRN member participants who responded to the original invitation and survey.Consensus definitions for the terms physical inactivity, stationary behavior, sedentary behavior, standing, screen time, non-screen-based sedentary time, sitting, reclining, lying, sedentary behavior pattern, as well as how the terms bouts, breaks, and interruptions should be used in this context are provided.It is hoped that the definitions resulting from this comprehensive, transparent, and broad-based participatory process will result in standardized terminology that is widely supported and adopted, thereby advancing future research, interventions, policies, and practices related to sedentary behaviors.
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21.
  • Adesiyun, Adewole, et al. (författare)
  • Overview of connected and automated driving test sites
  • 2020
  • Ingår i: Proceedings of 8th Transport Research Arena TRA 2020. ; , s. 7-
  • Konferensbidrag (refereegranskat)abstract
    • Connected and automated vehicles potentially offer solutions to some key challenges for National Road Administrations (NRAs), such as reduction of accidents, increasing network capacity etc. As a result of this potential, both industry and certain national governments are undertaking trials that are mainly focused on technological challenges such as the ability of vehicles to drive safely in “random” situations etc. Far less attention has been paid to questions around the implications for NRAs. The overall aim of the STAPLE project is to provide a comprehensive review of technological and non-technological aspects of the most relevant connected and automated driving test sites in order to understand the impact of these sites on the NRAs’ core business and functions.
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22.
  • Adloff, C, et al. (författare)
  • A measurement of the t dependence of the helicity structure of diffractive rho meson electroproduction at HERA
  • 2002
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 539:1-2, s. 25-39
  • Tidskriftsartikel (refereegranskat)abstract
    • The helicity structure of the diffractive electroproduction of rho mesons, e + p --> e + rho + Y, is studied in a previously unexplored region of large four-momentum transfer squared at the proton vertex, t: 0 < t' < 3 GeV2, where t' = - min. The data used are collected with the HI detector at HERA in the kinematic domain 2.5 < Q(2) < 60 GeV2, 40 < W < 120 GeV No t dependence of the r(00)(04) spin density matrix element is found. A significant t dependent helicity non-conservation from the virtual photon to the rho meson is observed for the spin density matrix element combinations r(00)(5) + 2r(11)(5) and r(00)(1) + 2r(11)(1). These t dependences are consistently described by a perturbative QCD model based on the exchange of two gluons.
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23.
  • Adloff, C, et al. (författare)
  • Diffractive photoproduction of psi(2S) mesons at HERA
  • 2002
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 541:3-4, s. 251-264
  • Tidskriftsartikel (refereegranskat)abstract
    • Results on diffractive photoproduction of psi(2S) mesons are presented using data collected between 1996 and 2000 with the H1 detector at the HERA ep collider. The data correspond to an integrated luminosity of 77 pb(-1). The energy dependence of the diffractive psi(2S) cross section is found to be similar to or possibly somewhat steeper than that for J/psi mesons. The dependences of the elastic and proton dissociative psi(2S) photoproduction cross sections on the squared momentum transfer t at the proton vertex are measured. The t-dependence of the elastic channel, parametrised as e(bt), yields b(el)(psi(2S)) = (4.31 +/- 0.57 +/- 0.46) GeV-2, compatible with that of the J/psi. For the proton dissociative channel the result b(pd)(psi(2S)) = (0.59 +/- 0.13 +/- 0.12) GeV-2 is 2.3 standard deviations smaller than that measured for the J/psi. With proper account of the individual wavefunctions theoretical predictions based on perturbative QCD are found to describe the measurements well. (C) 2002 Elsevier Science B.V. All rights reserved.
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24.
  • Adloff, C, et al. (författare)
  • Energy flow and rapidity gaps between jets in photoproduction at HERA
  • 2002
  • Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 24:4, s. 517-527
  • Tidskriftsartikel (refereegranskat)abstract
    • Dijet events in photon-proton collisions in which there is a large pseudorapidity separation, Deltaeta > 2.5 between the two highest E-T jets are studied with the H1 detector at HERA. The inclusive dijet cross sections are measured as functions of the longitudinal momentum fractions of the proton and photon which participate in the production of the jets, x(p)(jets) and x(gamma)(jets) respectively, Deltaeta, the pseudorapidity P separation between the two highest E-T jets, and E-T(gap), the total summed transverse energy between the jets. Rapidity gap events are defined as events in which E-T(gap) is less than E-T(cut), for E-T(cut) varied between jets 0.5 and 2.0 GeV. The fraction of dijet events with a rapidity gap is measured differentially in Deltaeta, x(p)(jets) and x(gamma)(jets). An excess of events with rapidity gaps at low values of E-T(cut) is observed above the expectation from standard photoproduction processes. This excess can be explained by the exchange of a strongly interacting colour singlet object between the jets.
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25.
  • Adloff, C, et al. (författare)
  • Inelastic leptoproduction of J/psi mesons at HERA
  • 2002
  • Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 25:1, s. 41-53
  • Tidskriftsartikel (refereegranskat)abstract
    • The leptoproduction of J/psi mesons is studied in inelastic reactions for four momentorri transfers 2 < Q(2) < 100GeV(2). The data were taken with the H1 detector at the electron proton collider HERA and correspond to an integrated luminosity of 77 pb(-1). Single differential and double differential cross sections are measured with increased precision compared with previous analyses. New leading order calculations within the non-relativistic QCD factorisation approach including colour octet and colour singlet contributions are compared with the data and are found to give a reasonable description of most distributions. An exception is the shape of the distribution in the J/psi fractional energy. z, which deviates significantly from that of the data. Comparisons with photoproduction are made and the polarisation of the produced J/psi meson is analysed.
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26.
  • Adloff, C, et al. (författare)
  • Inelastic photoproduction of J/psi mesons at HERA
  • 2002
  • Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 25:1, s. 25-39
  • Tidskriftsartikel (refereegranskat)abstract
    • An analysis of inelastic photoproduction of J/psi mesons is presented using data collected at the ep collider HERA corresponding to an integrated luminosity of above 80 pb(-1), Differential and double I < P-t/psi(2) < differential cross sections are measured in a wide kinematic region: 60 < W-gammap < 260 GeV, 1 p(t,psi)(2) < 60 GeV2 and 0.05 < z < 0.9. where z is the fraction of the energy of the exchanged photon transferred to the J/psi meson in the rest frame of the target proton. Cross sections at z less than or similar to 0.3 are presented for the first time. Theoretical calculations within the Colour Singlet Model at NLO for direct photon processes are shown to give a good description of the data in the medium z region (0.3 < z < 0.9) up to the highest p(t,psi)(2) values. A calculation using a k(t) factorisation approach in LO in the Colour Singlet Model is also able to describe these data. The data in the full z range are also compared to LO calculations within a non-relativistic QCD framework including colour octet and colour singlet contributions for direct and resolved photons. It seems possible to reconcile data and theory with modest contributions from colour octet processes. The polarisation of the J/psi meson is measured as a function of z and p(t,psi) and is reasonably described by the theoretical predictions.
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27.
  • Adloff, C, et al. (författare)
  • Measurement and QCD analysis of neutral and charged current cross sections at HERA
  • 2003
  • Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 30:1, s. 1-32
  • Tidskriftsartikel (refereegranskat)abstract
    • The inclusive e(+)p single and double differential cross sections for neutral and charged current processes axe measured with the H1 detector at HERA. The data were taken in 1999 and 2000 at a centre-of-mass energy of roots = 319 GeV and correspond to an integrated luminosity of 65.2 pb(-1). The cross sections are measured in the range of four-momentum transfer squared Q(2) between 100 and 30 000 GeV2 and Bjorken x between 0.0013 and 0.65. The neutral current analysis for the new e(+)p data and the earlier e-p data taken in 1998 and 1999 is extended to small energies of the scattered electron and therefore to higher values of inelasticity y, allowing a determination of the longitudinal structure function F-L at high Q(2) (110 - 700 GeV2). A new measurement of the structure function x (F) over tilde (3) is obtained using the new e(+)p and previously published e p neutral current cross section data at high Q(2). These data together with H1 low Q(2) precision data are further used to perform new next-to-leading order QCD analyses in the framework of the Standard Model to extract flavour separated parton distributions in the proton.
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28.
  • Adloff, C, et al. (författare)
  • Measurement of D*(+/-) meson production and F-2(c) in deep-inelastic scattering at HERA
  • 2002
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 528:3-4, s. 199-214
  • Tidskriftsartikel (refereegranskat)abstract
    • The inclusive production of D*+/-(2010) mesons in deep-inelastic scattering is studied with the HI detector at HERA. In the kinematic region 1 < Q(2) < 100 GeV2 and 0.05 < y < 0.7 an e(+) p cross section for inclusive D*+/- meson production of 8.50 +/- 0.42(stat.)(-100)(+1.21)(syst.) nb is measured in the visible range p(tD*) > 1.5 GeV and eta(D*) < 1.5. Single and double differential inclusive D*+/- meson cross sections are compared to perturbative QCD calculations in two different evolution schemes, The charm contribution to the proton structure, F-c(2)(x, Q(2)), is determined by extrapolating the visible charm cross section to the full phase space. This contribution is found to rise from about 10% at Q(2) = 1.5 GeV2 to more than 25% at Q(2) = 60 GeV2 corresponding to x values ranging from 5 x 10(-5) to 3 x 10(-3). (C) 2002 Elsevier Science B.V. All rights reserved.
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29.
  • Adloff, C, et al. (författare)
  • Measurement of dijet cross sections in photoproduction at HERA
  • 2002
  • Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 25:1, s. 13-23
  • Tidskriftsartikel (refereegranskat)abstract
    • Dijet cross sections as functions of several jet observables are measured in photoproduction using the HI detector at HERA. The data sample comprises e(+)p data with an integrated luminosity of 319 pb(-1). Jets are selected using the inclusive k(perpendicular to) algorithm with a minimum transverse energy of 25 GeV for the leading jet. The phase space covers longitudinal proton momentum fraction x(p) and photon longitudinal momentum fraction x(gamma) in the ranges 0.05 < x(p) < 0.6 and 0.1 < x(gamma) < 1. The predict ions of next-to-leading order perturbative QCD, including recent photon and proton parton densities, are found to be compatible with the data in a wide kinematical range.
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30.
  • Adloff, C, et al. (författare)
  • Measurement of dijet electroproduction at small jet separation
  • 2002
  • Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 24:1, s. 33-41
  • Tidskriftsartikel (refereegranskat)abstract
    • Deep-inelastic scattering data in the range 150 < Q(2) < 35000 GeV2 are used to investigate the minimum jet separation necessary to allow accurate description of the rate of dijet production using next-to-leading order perturbative QCD calculations. The required jet separation is found to be small, allowing about 1/3 of DIS data to be classified as dijet, as opposed to approximately 1/10 with more typical jet analyses. A number of precision measurements made using this dijet sample are well described by the calculations. The data are also described by the combination of leading order matrix elements and parton showers, as implemented in the QCD based Monte Carlo model RAPGAP.
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31.
  • Adloff, C, et al. (författare)
  • Measurement of inclusive jet cross-sections in deep-inelastic ep scattering at HERA
  • 2002
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 542:3-4, s. 193-206
  • Tidskriftsartikel (refereegranskat)abstract
    • A measurement of inclusive jet cross-sections in deep-inelastic ep scattering at HERA is presented based on data with an integrated luminosity of 21.1 pb(-1). The measurement is performed for photon virtualities Q(2) between 5 and 100 GeV2, differentially in Q(2), in the jet transverse energy E-T, in E-T(2)/Q(2) and in the pseudorapidity eta(lab). With the renormalization scale mu(R) = E-T, perturbative QCD calculations in next-to-leading order (NLO) give a good description of the data in most of the phase space. Significant discrepancies are observed only for jets in the proton beam direction with ET below 20 GeV and Q2 below 20 GeV2. This corresponds to the region in which NLO corrections are largest and further improvement of the calculations is thus of particular interest.
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32.
  • Adloff, C, et al. (författare)
  • Measurement of inclusive jet cross sections in photoproduction at HERA
  • 2003
  • Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 29:4, s. 497-513
  • Tidskriftsartikel (refereegranskat)abstract
    • Inclusive jet cross sections are measured in photoproduction at HERA using the H1 detector. The data sample of e(+)p --> e(+) + jet + X events in the kinematic range of photon virtualities Q(2) less than or equal to 1GeV(2) and photon-proton centre-of-mass energies 95 less than or equal to W-gammap less than or equal to 285GeV represents an integrated luminosity of 24.1pb(-1). Jets are defined using the inclusive k(perpendicular to) algorithm. Single- and multi-differential cross sections are measured as functions of jet transverse energy E-T(jet) and pseudorapidity eta(jet) in the domain 5 less than or equal to E-T(jet) less than or equal to 75GeV and -1 less than or equal to eta(jet) less than or equal to 2.5. The cross sections are found to be in good agreement with next-to-leading order perturbative QCD calculations corrected for fragmentation and underlying event effects. The cross section differential in E-T(jet), which varies by six orders of magnitude over the measured range, is compared with similar distributions from p (p) over bar colliders at equal and higher energies.
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33.
  • Adloff, C, et al. (författare)
  • Search for excited electrons at HERA
  • 2002
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 548:1-2, s. 35-44
  • Tidskriftsartikel (refereegranskat)abstract
    • A search for excited electron (e*) production is described in which the electroweak decays e* --> egamma, e* --> eZ and e* ---> nuW are considered. The data used correspond to an integrated luminosity of 120 pb(-1) taken in e(+/-)p collisions from 1994 to 2000 with the H1 detector at HERA at centre-of-mass energies of 300 and 318 GeV. No evidence for a signal is found. Mass dependent exclusion limits are derived for the ratio of the couplings to the compositeness scale, f/A. These limits extend the excluded region to higher masses than has been possible in previous direct searches for excited electrons. (C) 2002 Published by Elsevier Science B.V.
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34.
  • Adloff, C, et al. (författare)
  • Search for excited neutrinos at HERA
  • 2002
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 525:1-2, s. 9-16
  • Tidskriftsartikel (refereegranskat)abstract
    • We present a search for excited neutrinos using e(-) p data taken by the H1 experiment at HERA at a center-of-mass energy of 318 GeV with an integrated luminosity of 15 pb(-1). No evidence for excited neutrino production is found. Mass dependent exclusion limits are determined for the ratio of the coupling to the compositeness scale, f/Lambda, independently of the relative couplings to the SU(2) and U(1) gauge bosons. These limits extend the excluded region to higher masses than has been possible in previous searches at other colliders.
  •  
35.
  • Adloff, C, et al. (författare)
  • Search for new physics in e +/- q contact interactions at HERA
  • 2003
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 568:1-2, s. 35-47
  • Tidskriftsartikel (refereegranskat)abstract
    • Deep-inelastic e(+/-) p scattering at high squared momentum transfer Q(2) up to 30 000 GeV2 is used to search for eq contact interactions associated to scales far beyond the HERA centre of mass energy. The neutral current cross section measurements dsigma / dQ(2), corresponding to integrated luminosities of 16.4 pb(-1) of e(-) p data and 100.8 pb(-1) of e(+) p data, are well described by the Standard Model and are analysed to set constraints on new phenomena. For conventional contact interactions lower limits are set on compositeness scales A ranging between 1.6-5.5 TeV. Couplings and masses of leptoquarks and squarks in R-parity violating supersymmetry are constrained to M / lambda > 0.3-1.4 TeV. A search for low scale quantum gravity effects in models with large extra dimensions provides limits on the effective Planck scale of MS > 0.8 TeV. A form factor analysis yields a bound on the radius of light quarks of R-q < 1.0 10(-18) m. (C) 2003 Published by Elsevier B.V.
  •  
36.
  • Adloff, C, et al. (författare)
  • Search for odderon-induced contributions to exclusive pi(0) photoproduction at HERA
  • 2002
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 544:1-2, s. 35-43
  • Tidskriftsartikel (refereegranskat)abstract
    • A search for contributions to the reaction ep --> epi(0)N* from photon-odderon fusion in the photoproduction regime at HERA is reported, at an average photon-proton centre-of-mass energy = 215 GeV. The measurement proceeds via detection of the pi(0) decay photons, a leading neutron from the N* decay, and the scattered electron. No pi(0) signal is observed and an upper limit on the cross section for the photon-odderon fusion process of sigma(gammap --> pi(0)N*) < 49 nb at the 95% confidence level is derived, integrated over the experimentally accessible range of the squared four-momentum transfer at the nucleon vertex 0.02 < < 0.3 GeV2. This excludes a recent prediction from a calculation based on a non-perturbative QCD model of a photon-odderon fusion cross section above 200 nb. (C) 2002 Elsevier Science B.V. All rights reserved.
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37.
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38.
  • Desai, Trishna A., et al. (författare)
  • Identifying proteomic risk factors for overall, aggressive, and early onset prostate cancer using Mendelian Randomisation and tumour spatial transcriptomics
  • 2024
  • Ingår i: EBioMedicine. - : Elsevier. - 2352-3964. ; 105
  • Tidskriftsartikel (refereegranskat)abstract
    • Background Understanding the role of circulating proteins in prostate cancer risk can reveal key biological pathways and identify novel targets for cancer prevention. Methods We investigated the association of 2002 genetically predicted circulating protein levels with risk of prostate cancer overall, and of aggressive and early onset disease, using cis- pQTL Mendelian randomisation (MR) and colocalisation. Findings for proteins with support from both MR, after correction for multiple -testing, and colocalisation were replicated using two independent cancer GWAS, one of European and one of African ancestry. Proteins with evidence of prostate -speci fi c tissue expression were additionally investigated using spatial transcriptomic data in prostate tumour tissue to assess their role in tumour aggressiveness. Finally, we mapped risk proteins to drug and ongoing clinical trials targets. Findings We identi fi ed 20 proteins genetically linked to prostate cancer risk (14 for overall [8 speci fi c], 7 for aggressive [3 speci fi c], and 8 for early onset disease [2 speci fi c]), of which the majority replicated where data were available. Among these were proteins associated with aggressive disease, such as PPA2 [Odds Ratio (OR) per 1 SD increment = 2.13, 95% CI: 1.54 - 2.93], PYY [OR = 1.87, 95% CI: 1.43 - 2.44] and PRSS3 [OR = 0.80, 95% CI: 0.73 - 0.89], and those associated with early onset disease, including EHPB1 [OR = 2.89, 95% CI: 1.99 - 4.21], POGLUT3 [OR = 0.76, 95% CI: 0.67 - 0.86] and TPM3 [OR = 0.47, 95% CI: 0.34 - 0.64]. We con fi rmed an inverse association of MSMB with prostate cancer overall [OR = 0.81, 95% CI: 0.80 - 0.82], and also found an inverse association with both aggressive [OR = 0.84, 95% CI: 0.82 - 0.86] and early onset disease [OR = 0.71, 95% CI: 0.68 - 0.74]. Using spatial transcriptomics data, we identi fi ed MSMB as the genome-wide top -most predictive gene to distinguish benign regions from high grade cancer regions that comparatively had fi ve -fold lower MSMB expression. Additionally, ten proteins that were associated with prostate cancer risk also mapped to existing therapeutic interventions. Interpretation Our fi ndings emphasise the importance of proteomics for improving our understanding of prostate cancer aetiology and of opportunities for novel therapeutic interventions. Additionally, we demonstrate the added bene fi t of in-depth functional analyses to triangulate the role of risk proteins in the clinical aggressiveness of prostate tumours. Using these integrated methods, we identify a subset of risk proteins associated with aggressive and early onset disease as priorities for investigation for the future prevention and treatment of prostate cancer.
  •  
39.
  • Erdelean, Isabela, et al. (författare)
  • Catalogue of connected and automated driving test sites : Deliverable No2.1
  • 2019
  • Rapport (övrigt vetenskapligt/konstnärligt)abstract
    • The overall aim of STAPLE is to provide a comprehensive review of technological and non-technological aspects of the most relevant connected and automated test sites and test beds across Europe and beyond, in order to understand the impact of these sites on the NRAs’ core business and functions. The project will provide road administrations with the necessary know-how on connected and automated driving test sites, with the aim of supporting their core activities, such as road safety, traffic efficiency, customer service, maintenance and construction.This deliverable presents the approach taken in STAPLE for identifying a wide range of connected and automated driving test sites and test beds across Europe and beyond, as well as a detailed Catalogue of 37 test sites/beds.A first assessment and pre-selection of the test sites/beds was performed, to evaluate their feasibility for further investigation in the next activities of the project. The qualitative assessment took into account criteria such as location, availability of data, longevity of the site/bed, purpose, confidentiality. The pre-selection yielded the following test sites/beds (in no particular order).
  •  
40.
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41.
  • Henry, Alastair, 1963-, et al. (författare)
  • L2 Motivation and Digital Technologies
  • 2019
  • Ingår i: The Palgrave Handbook of Motivation for Language Learning.. - Cham : Palgrave Macmillan. - 9783030283797 - 9783030283803 ; , s. 599-619
  • Bokkapitel (refereegranskat)abstract
    • This chapter uses Self Determination Theory (Deci & Ryan, Intrinsic motivation and self-determination in human behaviour. New York: Plenum Press, 1985) as a lens through which to review research describing motivational influences associated with digital technologies. Motivational effects are traced to pleasure generated from technology use (intrinsic motivation), and to the satisfaction of three basic psychological needs that generate and sustain high-quality motivation; the manner in which digital technologies enable learners to connect to others (relatedness); experiences of agency and independence in using the L2 in digital spaces (autonomy); and the generation of linguistic self-confidence (competence). Adopting an interdisciplinary position, it is suggested that in addition to understanding the effects of these “psychological nourishments” (Rigby & Ryan, The Routledge handbook of media use and well-being (pp. 34–48). New York: Routledge, 2017), there is a need for broader conceptualizations of motivational influences. Three concepts with particular relevance to L2 motivation are identified: the development of L2 vision through learners’ engagement with digital media, influences stemming from appraisals of verisimilitude when a digital technology forms a part of learning, and the effects of personal validation seeking when L2 media is created in networked environments.
  •  
42.
  • Kapun, Martin, et al. (författare)
  • Drosophila Evolution over Space and Time (DEST) : A New Population Genomics Resource
  • 2021
  • Ingår i: Molecular biology and evolution. - : Oxford University Press (OUP). - 0737-4038 .- 1537-1719. ; 38:12, s. 5782-5805
  • Tidskriftsartikel (refereegranskat)abstract
    • Drosophila melanogaster is a leading model in population genetics and genomics, and a growing number of whole-genome data sets from natural populations of this species have been published over the last years. A major challenge is the integration of disparate data sets, often generated using different sequencing technologies and bioinformatic pipelines, which hampers our ability to address questions about the evolution of this species. Here we address these issues by developing a bioinformatics pipeline that maps pooled sequencing (Pool-Seq) reads from D. melanogaster to a hologenome consisting of fly and symbiont genomes and estimates allele frequencies using either a heuristic (PoolSNP) or a probabilistic variant caller (SNAPE-pooled). We use this pipeline to generate the largest data repository of genomic data available for D. melanogaster to date, encompassing 271 previously published and unpublished population samples from over 100 locations in >20 countries on four continents. Several of these locations have been sampled at different seasons across multiple years. This data set, which we call Drosophila Evolution over Space and Time (DEST), is coupled with sampling and environmental metadata. A web-based genome browser and web portal provide easy access to the SNP data set. We further provide guidelines on how to use Pool-Seq data for model-based demographic inference. Our aim is to provide this scalable platform as a community resource which can be easily extended via future efforts for an even more extensive cosmopolitan data set. Our resource will enable population geneticists to analyze spatiotemporal genetic patterns and evolutionary dynamics of D. melanogaster populations in unprecedented detail.
  •  
43.
  •  
44.
  • Lamb, Martin, et al. (författare)
  • Introduction
  • 2019
  • Ingår i: The Palgrave Handbook of Motivation for Language Learning. - Cham : Palgrave Macmillan. - 9783030283797 - 9783030283803 ; , s. 1-17
  • Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
    • In this introduction the editors suggest that the field of L2 motivation research has now achieved a degree of maturity, in terms of scale and diversity of scholarly output, and that it warrants publication of a ‘state-of-the-art’ compendium. This in turn reflects the way that globalization, migration and other contemporary phenomena are encouraging or forcing people to learn language, and the challenges that they and their teachers face in sustaining the desire to learn over the long periods necessary to achieve communicative or academic success.
  •  
45.
  • Lamb, Martin, et al. (författare)
  • Recommendations for future test sites : Deliverable No 5.1
  • 2020
  • Rapport (övrigt vetenskapligt/konstnärligt)abstract
    • Over 70 test sites in Europe and elsewhere were identified through personal contacts and knowledge of the project team, web searches and discussion with the CEDR CAD group and industry contacts. The output of this work was a catalogue of connected and automated driving test sites, identifying and categorising 37 test sites in Europe (Deliverable 2.1). The sites are also presented in a Google map page which gives the locations of the test tracks and approximate extent of road-based test sites.A preselection of 16 test sites for further investigation was made by the project team and discussions with the CEDR CAD team at a workshop in Tallinn. These sites were prioritised based on factors including; provision of information to the team in the first phase, the type of track or roads involved (excluding low speed pods in campus environments for example) and sites or projects that would be operational beyond the lifetime of the project. Final agreement was made, and visits made to the following sites by members of the project team, CEDR project officers and representatives of NRAs:Horiba MIRA, Midlands, UK,Alp.Lab, Graz, Austria,TRANSPOLIS, Lyon, France.Discussion were also held with the Midlands Future Mobility test road to learn about the plans for this 20-year project. The findings are presented in Deliverable 3.1.Following this work, the project team took the learnings from the test sites initially categorising the test sites by road / track type, for example urban, interurban, simulations, detailing the practical implications for each and noting test sites in each category and occasions where NRAs were directly involved. The sites where priority areas for NRAs (safety, traffic efficiency, customer service, maintenance and construction and data / C-ITS) were discussed and implications for NRAs presented. In the absence of data provided directly provided by test sites, the impacts of CAVs, CVs and AVs for these priority areas were detailed in relation to potential impacts, benefits, or infrastructure requirements for NRAs in the future. This was supplemented by four cases with more in-depth analysis to provide a concrete overview of activities at specific sites or projects addressing aspects that align with the work of NRAs. These were:Highways England: Construction and maintenance vehicles, work zone safety,TRANSPOLIS test site: cyber security and data case study and self-driving vehicle cyber security testing capabilities,ENSEMBLE truck platooning project, andZENZIC: CAVs cyber security testing capabilitiesFrom the work undertaken, a series of findings were made, which are presented joint Deliverable 4.1 and 4.2. AFrom the findings developed, a series of recommendations were made. The original plan was that these would be discussed with the CEDR CAD group at the TRA conference in Helsinki and/or a CEDR group meeting in Bern, however the outbreak of COVID19 prevented this from happening. Instead, three online workshops were held with representatives of the CEDR CAD group, project officers, research institutes and interested experts and a fourth workshop with the CEDR CAD group only. Following an overview of the work undertaken on the project, the MURAL whiteboard tool was used to present the recommendations, clarify or add new one, vote on those of highest interest, and finally to discuss and categorise the difficulty of implementation of the recommendations.In the areas investigated, there are a variety of simulation, visualisation, test tracks and test beds that address NRA needs across Europe. One area that is possibly lacking is road trials that traverse international boundaries and work on this should be undertaken to ensure interoperability of systems across Europe. Depending on specific NRAs needs there is a variety of testing scenarios available. NRAs can become mutual partners and participate in consortia together with the OEMs and other relevant data and service providers to be able to obtain and exchange data and best practices. Since the test site performance and safety information resulted from specific tests and trials undertaken by each site is typically confidential it is proposed that NRAs join such initiatives or join ventures and become a mutual partner. More open communication from all parties could lead to the development of projects that address common areas of interest such as safety, traffic efficiency and customer service, and help accelerate the deployment of connected and autonomous vehicles.
  •  
46.
  • Leclair, Valerie, et al. (författare)
  • Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies
  • 2023
  • Ingår i: EBioMedicine. - : Elsevier. - 2352-3964. ; 96
  • Tidskriftsartikel (refereegranskat)abstract
    • Background In patients with idiopathic inflammatory myopathies (IIM), autoantibodies are associated with specific clinical phenotypes suggesting a pathogenic role of adaptive immunity. We explored if autoantibody profiles are associated with specific HLA genetic variants and clinical manifestations in IIM. Methods We included 1348 IIM patients and determined the occurrence of 14 myositis-specific or-associated autoantibodies. We used unsupervised cluster analysis to identify autoantibody-defined subgroups and logistic regression to estimate associations with clinical manifestations, HLA-DRB1, HLA-DQA1, HLA-DQB1 alleles, and amino acids imputed from genetic information of HLA class II and I molecules. Findings We identified eight subgroups with the following dominant autoantibodies: anti-Ro52, -U1RNP, -PM/Scl,-Mi2,-Jo1,-Jo1/Ro52,-TIF1 gamma or negative for all analysed autoantibodies. Associations with HLA-DRB1*11, HLA-DRB1*15, HLA-DQA1*03, and HLA-DQB1*03 were present in the anti-U1RNP-dominated subgroup. HLA-DRB1*03, HLA-DQA1*05, and HLA-DQB1*02 alleles were overrepresented in the anti-PM/Scl and anti-Jo1/ Ro52-dominated subgroups. HLA-DRB1*16, HLA-DRB1*07 alleles were most frequent in anti-Mi2 and HLA- DRB1*01 and HLA-DRB1*07 alleles in the anti-TIF1 gamma subgroup. The HLA-DRB1*13, HLA-DQA1*01 and HLA-DQB1*06 alleles were overrepresented in the negative subgroup. Significant signals from variations in class I molecules were detected in the subgroups dominated by anti-Mi2, anti-Jo1/Ro52, anti-TIF1 gamma, and the negative subgroup. Interpretation Distinct HLA class II and I associations were observed for almost all autoantibody-defined subgroups. The associations support autoantibody profiles use for classifying IIM which would likely reflect underlying pathogenic mechanisms better than classifications based on clinical symptoms and/or histopathological features. Funding See a detailed list of funding bodies in the Acknowledgements section at the end of the manuscript. Copyright (c) 2023 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
  •  
47.
  •  
48.
  • Pottel, Hans, et al. (författare)
  • Cystatin C–Based Equation to Estimate GFR without the Inclusion of Race and Sex
  • 2023
  • Ingår i: The New England journal of medicine. - : Massachusetts Medical Society. - 0028-4793 .- 1533-4406. ; 388:4, s. 333-343
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUNDThe accuracy of estimation of kidney function with the use of routine metabolic tests, such as measurement of the serum creatinine level, has been controversial. The European Kidney Function Consortium (EKFC) developed a creatinine-based equation (EKFC eGFRcr) to estimate the glomerular filtration rate (GFR) with a rescaled serum creatinine level (i.e., the serum creatinine level is divided by the median serum creatinine level among healthy persons to control for variation related to differences in age, sex, or race). Whether a cystatin C–based EKFC equation would increase the accuracy of estimated GFR is unknown.METHODSWe used data from patients in Sweden to estimate the rescaling factor for the cystatin C level in adults. We then replaced rescaled serum creatinine in the EKFC eGFRcr equation with rescaled cystatin C, and we validated the resulting EKFC eGFRcys equation in cohorts of White patients and Black patients in Europe, the United States, and Africa, according to measured GFR, levels of serum creatinine and cystatin C, age, and sex.RESULTSOn the basis of data from 227,643 patients in Sweden, the rescaling factor for cystatin C was estimated at 0.83 for men and women younger than 50 years of age and 0.83+0.005×(age–50) for those 50 years of age or older. The EKFC eGFRcys equation was unbiased, had accuracy that was similar to that of the EKFC eGFRcr equation in both White patients and Black patients (11,231 patients from Europe, 1093 from the United States, and 508 from Africa), and was more accurate than the Chronic Kidney Disease Epidemiology Collaboration eGFRcys equation recommended by Kidney Disease: Improving Global Outcomes. The arithmetic mean of EKFC eGFRcr and EKFC eGFRcys further improved the accuracy of estimated GFR over estimates from either biomarker equation alone.CONCLUSIONSThe EKFC eGFRcys equation had the same mathematical form as the EKFC eGFRcr equation, but it had a scaling factor for cystatin C that did not differ according to race or sex. In cohorts from Europe, the United States, and Africa, this equation improved the accuracy of GFR assessment over that of commonly used equations.
  •  
49.
  • Pottel, Hans, et al. (författare)
  • Cystatin C–Based Equation to Estimate GFR without the Inclusion of Race and Sex
  • 2023
  • Ingår i: New England Journal of Medicine. - : Massachusetts Medical Society. - 0028-4793 .- 1533-4406. ; 388:4, s. 333-343
  • Tidskriftsartikel (refereegranskat)abstract
    • BackgroundThe accuracy of estimation of kidney function with the use of routine metabolic tests, such as measurement of the serum creatinine level, has been controversial. The European Kidney Function Consortium (EKFC) developed a creatinine-based equation (EKFC eGFRcr) to estimate the glomerular filtration rate (GFR) with a rescaled serum creatinine level (i.e., the serum creatinine level is divided by the median serum creatinine level among healthy persons to control for variation related to differences in age, sex, or race). Whether a cystatin C–based EKFC equation would increase the accuracy of estimated GFR is unknown.MethodsWe used data from patients in Sweden to estimate the rescaling factor for the cystatin C level in adults. We then replaced rescaled serum creatinine in the EKFC eGFRcr equation with rescaled cystatin C, and we validated the resulting EKFC eGFRcys equation in cohorts of White patients and Black patients in Europe, the United States, and Africa, according to measured GFR, levels of serum creatinine and cystatin C, age, and sex.ResultsOn the basis of data from 227,643 patients in Sweden, the rescaling factor for cystatin C was estimated at 0.83 for men and women younger than 50 years of age and 0.83+0.005×(age–50) for those 50 years of age or older. The EKFC eGFRcys equation was unbiased, had accuracy that was similar to that of the EKFC eGFRcr equation in both White patients and Black patients (11,231 patients from Europe, 1093 from the United States, and 508 from Africa), and was more accurate than the Chronic Kidney Disease Epidemiology Collaboration eGFRcys equation recommended by Kidney Disease: Improving Global Outcomes. The arithmetic mean of EKFC eGFRcr and EKFC eGFRcys further improved the accuracy of estimated GFR over estimates from either biomarker equation alone.ConclusionsThe EKFC eGFRcys equation had the same mathematical form as the EKFC eGFRcr equation, but it had a scaling factor for cystatin C that did not differ according to race or sex. In cohorts from Europe, the United States, and Africa, this equation improved the accuracy of GFR assessment over that of commonly used equations. (Funded by the Swedish Research Council.)
  •  
50.
  • Szatmari, Peter, et al. (författare)
  • Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
  • 2007
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:3, s. 319-328
  • Tidskriftsartikel (refereegranskat)abstract
    • Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,168 families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
  •  
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