149 research outputs found

    A crowdsourcing database for the copy-number variation of the spanish population

    Get PDF
    Background: Despite being a very common type of genetic variation, the distribution of copy-number variations (CNVs) in the population is still poorly understood. The knowledge of the genetic variability, especially at the level of the local population, is a critical factor for distinguishing pathogenic from non-pathogenic variation in the discovery of new disease variants. Results: Here, we present the SPAnish Copy Number Alterations Collaborative Server (SPACNACS), which currently contains copy number variation profiles obtained from more than 400 genomes and exomes of unrelated Spanish individuals. By means of a collaborative crowdsourcing effort whole genome and whole exome sequencing data, produced by local genomic projects and for other purposes, is continuously collected. Once checked both, the Spanish ancestry and the lack of kinship with other individuals in the SPACNACS, the CNVs are inferred for these sequences and they are used to populate the database. A web interface allows querying the database with different filters that include ICD10 upper categories. This allows discarding samples from the disease under study and obtaining pseudo-control CNV profiles from the local population. We also show here additional studies on the local impact of CNVs in some phenotypes and on pharmacogenomic variants. SPACNACS can be accessed at: http://csvs.clinbioinfosspa.es/spacnacs/. Conclusion: SPACNACS facilitates disease gene discovery by providing detailed information of the local variability of the population and exemplifies how to reuse genomic data produced for other purposes to build a local reference database.This work is supported by Grants PID2020-117979RB-I00 from the Spanish Ministry of Science and Innovation; by the Institute of Health Carlos III (project IMPaCT-Data, exp. IMP/00019, IMP/00009 and PI20/01305), co-funded by the European Union, European Regional Development Fund (ERDF, “A way to make Europe”)

    Clinical Presentation and Outcomes of Kawasaki Disease in Children from Latin America: A Multicenter Observational Study from the REKAMLATINA Network

    Get PDF
    Objetivos: Describir la presentación clínica, el manejo y los resultados de la enfermedad de Kawasaki (EK) en Latinoamérica y evaluar los indicadores pronósticos tempranos de aneurisma de la arteria coronaria (AAC). Diseño del estudio: Se realizó un estudio observacional basado en el registro de la EK en 64 centros pediátricos participantes de 19 países latinoamericanos de forma retrospectiva entre el 1 de enero de 2009 y el 31 de diciembre de 2013, y de forma prospectiva desde el 1 de junio de 2014 hasta el 31 de mayo de 2017. Se recopilaron datos demográficos, clínicos y de laboratorio iniciales. Se utilizó una regresión logística que incorporaba factores clínicos y la puntuación z máxima de la arteria coronaria en la presentación inicial (entre 10 días antes y 5 días después de la inmunoglobulina intravenosa [IGIV]) para desarrollar un modelo pronóstico de AAC durante el seguimiento (>5 días después de la IGIV). Resultados: De 1853 pacientes con EK, el ingreso tardío (>10 días tras el inicio de la fiebre) se produjo en el 16%, el 25% tuvo EK incompleta y el 11% fue resistente a la IGIV. Entre los 671 sujetos con puntuación z de la arteria coronaria notificada durante el seguimiento (mediana: 79 días; IQR: 36, 186), el 21% presentaba AAC, incluido un 4% con aneurismas gigantes. Un modelo pronóstico simple que utilizaba sólo una puntuación z de la arteria coronaria máxima ≥2,5 en la presentación inicial fue óptimo para predecir la AAC durante el seguimiento (área bajo la curva: 0,84; IC del 95%: 0,80, 0,88). Conclusiones: De nuestra población latinoamericana, la puntuación z de la arteria coronaria ≥2,5 en la presentación inicial fue el factor pronóstico más importante que precedió a la AAC durante el seguimiento. Estos resultados resaltan la importancia de la ecocardiografía temprana durante la presentación inicial de la EK. © 2023 Los autoresObjectives: To describe the clinical presentation, management, and outcomes of Kawasaki disease (KD) in Latin America and to evaluate early prognostic indicators of coronary artery aneurysm (CAA). Study design: An observational KD registry-based study was conducted in 64 participating pediatric centers across 19 Latin American countries retrospectively between January 1, 2009, and December 31, 2013, and prospectively from June 1, 2014, to May 31, 2017. Demographic and initial clinical and laboratory data were collected. Logistic regression incorporating clinical factors and maximum coronary artery z-score at initial presentation (between 10 days before and 5 days after intravenous immunoglobulin [IVIG]) was used to develop a prognostic model for CAA during follow-up (>5 days after IVIG). Results: Of 1853 patients with KD, delayed admission (>10 days after fever onset) occurred in 16%, 25% had incomplete KD, and 11% were resistant to IVIG. Among 671 subjects with reported coronary artery z-score during follow-up (median: 79 days; IQR: 36, 186), 21% had CAA, including 4% with giant aneurysms. A simple prognostic model utilizing only a maximum coronary artery z-score ≥2.5 at initial presentation was optimal to predict CAA during follow-up (area under the curve: 0.84; 95% CI: 0.80, 0.88). Conclusion: From our Latin American population, coronary artery z-score ≥2.5 at initial presentation was the most important prognostic factor preceding CAA during follow-up. These results highlight the importance of early echocardiography during the initial presentation of KD. © 2023 The Author(s

    Marine Biodiversity in the Caribbean: Regional Estimates and Distribution Patterns

    Get PDF
    This paper provides an analysis of the distribution patterns of marine biodiversity and summarizes the major activities of the Census of Marine Life program in the Caribbean region. The coastal Caribbean region is a large marine ecosystem (LME) characterized by coral reefs, mangroves, and seagrasses, but including other environments, such as sandy beaches and rocky shores. These tropical ecosystems incorporate a high diversity of associated flora and fauna, and the nations that border the Caribbean collectively encompass a major global marine biodiversity hot spot. We analyze the state of knowledge of marine biodiversity based on the geographic distribution of georeferenced species records and regional taxonomic lists. A total of 12,046 marine species are reported in this paper for the Caribbean region. These include representatives from 31 animal phyla, two plant phyla, one group of Chromista, and three groups of Protoctista. Sampling effort has been greatest in shallow, nearshore waters, where there is relatively good coverage of species records; offshore and deep environments have been less studied. Additionally, we found that the currently accepted classification of marine ecoregions of the Caribbean did not apply for the benthic distributions of five relatively well known taxonomic groups. Coastal species richness tends to concentrate along the Antillean arc (Cuba to the southernmost Antilles) and the northern coast of South America (Venezuela – Colombia), while no pattern can be observed in the deep sea with the available data. Several factors make it impossible to determine the extent to which these distribution patterns accurately reflect the true situation for marine biodiversity in general: (1) highly localized concentrations of collecting effort and a lack of collecting in many areas and ecosystems, (2) high variability among collecting methods, (3) limited taxonomic expertise for many groups, and (4) differing levels of activity in the study of different taxa

    Outcomes from elective colorectal cancer surgery during the SARS-CoV-2 pandemic

    Get PDF
    This study aimed to describe the change in surgical practice and the impact of SARS-CoV-2 on mortality after surgical resection of colorectal cancer during the initial phases of the SARS-CoV-2 pandemic

    Micromechanical Properties of Injection-Molded Starch–Wood Particle Composites

    Get PDF
    The micromechanical properties of injection molded starch–wood particle composites were investigated as a function of particle content and humidity conditions. The composite materials were characterized by scanning electron microscopy and X-ray diffraction methods. The microhardness of the composites was shown to increase notably with the concentration of the wood particles. In addition,creep behavior under the indenter and temperature dependence were evaluated in terms of the independent contribution of the starch matrix and the wood microparticles to the hardness value. The influence of drying time on the density and weight uptake of the injection-molded composites was highlighted. The results revealed the role of the mechanism of water evaporation, showing that the dependence of water uptake and temperature was greater for the starch–wood composites than for the pure starch sample. Experiments performed during the drying process at 70°C indicated that the wood in the starch composites did not prevent water loss from the samples.Peer reviewe

    Measurement of ZZ boson production cross-section in pppp collisions at s=5.02\sqrt{s} = 5.02 TeV

    Get PDF
    The first measurement of the ZZ boson production cross-section at centre-of-mass energy s=5.02\sqrt{s} = 5.02\,TeV in the forward region is reported, using pppp collision data collected by the LHCb experiment in year 2017, corresponding to an integrated luminosity of 100±2pb1100 \pm 2\,\rm{pb^{-1}}. The production cross-section is measured for final-state muons in the pseudorapidity range 2.020GeV/c2.0 20\,\rm{GeV/}\it{c}. The integrated cross-section is determined to be σZμ+μ=39.6±0.7(stat)±0.6(syst)±0.8(lumi) pb \sigma_{Z \rightarrow \mu^{+}\mu^{-}} = 39.6 \pm 0.7\,(\rm{stat}) \pm 0.6\,(\rm{syst}) \pm 0.8\,(\rm{lumi}) \ \rm{pb} for the di-muon invariant mass in the range 60<Mμμ<120GeV/c260<M_{\mu\mu}<120\,\rm{GeV/}\it{c^{2}}. This result and the differential cross-section results are in good agreement with theoretical predictions at next-to-next-to-leading order in the strong coupling. Based on a previous LHCb measurement of the ZZ boson production cross-section in ppPb collisions at sNN=5.02\sqrt{s_{NN}}=5.02 TeV, the nuclear modification factor RpPbR_{p\rm{Pb}} is measured for the first time at this energy. The measured values are 1.20.3+0.5(stat)±0.1(syst)1.2^{+0.5}_{-0.3}\,(\rm{stat}) \pm 0.1\,(\rm{syst}) in the forward region (1.53<yμ<4.031.53<y^*_{\mu}<4.03) and 3.60.9+1.6(stat)±0.2(syst)3.6^{+1.6}_{-0.9}\,(\rm{stat}) \pm 0.2\,(\rm{syst}) in the backward region (4.97<yμ<2.47-4.97<y^*_{\mu}<-2.47), where yμy^*_{\mu} represents the muon rapidity in the centre-of-mass frame.Comment: All figures and tables, along with any supplementary material and additional information, are available at https://cern.ch/lhcbproject/Publications/p/LHCb-PAPER-2023-010.html (LHCb public pages

    Observation of the decays B(s)0Ds1(2536)K±B_{(s)}^{0}\to D_{s1}(2536)^{\mp}K^{\pm}

    Full text link
    This paper reports the observation of the decays B(s)0Ds1(2536)K±B_{(s)}^{0}\to D_{s1}(2536)^{\mp}K^{\pm} using proton-proton collision data collected by the LHCb experiment, corresponding to an integrated luminosity of 9fb19\,\mathrm{fb}^{-1}. The branching fractions of these decays are measured relative to the normalisation channel B0D0K+KB^{0}\to \overline{D}^{0}K^{+}K^{-}. The Ds1(2536)D_{s1}(2536)^{-} meson is reconstructed in the D(2007)0K\overline{D}^{*}(2007)^{0}K^{-} decay channel and the products of branching fractions are measured to be B(Bs0Ds1(2536)K±)×B(Ds1(2536)D(2007)0K)=(2.49±0.11±0.12±0.25±0.06)×105,\mathcal{B}(B_{s}^{0}\to D_{s1}(2536)^{\mp}K^{\pm})\times\mathcal{B}(D_{s1}(2536)^{-}\to\overline{D}^{*}(2007)^{0}K^{-})=(2.49\pm0.11\pm0.12\pm0.25\pm0.06)\times 10^{-5}, B(B0Ds1(2536)K±)×B(Ds1(2536)D(2007)0K)=(0.510±0.021±0.036±0.050)×105.\mathcal{B}(B^{0}\to D_{s1}(2536)^{\mp}K^{\pm})\times\mathcal{B}(D_{s1}(2536)^{-}\to\overline{D}^{*}(2007)^{0}K^{-}) = (0.510\pm0.021\pm0.036\pm0.050)\times 10^{-5}. The first uncertainty is statistical, the second systematic, and the third arises from the uncertainty of the branching fraction of the B0D0K+KB^{0}\to \overline{D}^{0}K^{+}K^{-} normalisation channel. The last uncertainty in the Bs0B_{s}^{0} result is due to the limited knowledge of the fragmentation fraction ratio, fs/fdf_{s}/f_{d}. The significance for the Bs0B_{s}^{0} and B0B^{0} signals is larger than 10σ10\,\sigma. The ratio of the helicity amplitudes which governs the angular distribution of the Ds1(2536)D(2007)0KD_{s1}(2536)^{-}\to\overline{D}^{*}(2007)^{0}K^{-} decay is determined from the data. The ratio of the SS- and DD-wave amplitudes is found to be 1.11±0.15±0.061.11\pm0.15\pm 0.06 and its phase 0.70±0.09±0.040.70\pm0.09\pm 0.04 rad, where the first uncertainty is statistical and the second systematic.Comment: All figures and tables, along with machine-readable versions and any supplementary material and additional information, are available at https://cern.ch/lhcbproject/Publications/p/LHCb-PAPER-2023-014.html (LHCb public pages

    Studies of η\eta and η\eta' production in pppp and ppPb collisions

    Full text link
    The production of η\eta and η\eta' mesons is studied in proton-proton and proton-lead collisions collected with the LHCb detector. Proton-proton collisions are studied at center-of-mass energies of 5.025.02 and 13 TeV13~{\rm TeV}, and proton-lead collisions are studied at a center-of-mass energy per nucleon of 8.16 TeV8.16~{\rm TeV}. The studies are performed in center-of-mass rapidity regions 2.5<yc.m.<3.52.5<y_{\rm c.m.}<3.5 (forward rapidity) and 4.0<yc.m.<3.0-4.0<y_{\rm c.m.}<-3.0 (backward rapidity) defined relative to the proton beam direction. The η\eta and η\eta' production cross sections are measured differentially as a function of transverse momentum for 1.5<pT<10 GeV1.5<p_{\rm T}<10~{\rm GeV} and 3<pT<10 GeV3<p_{\rm T}<10~{\rm GeV}, respectively. The differential cross sections are used to calculate nuclear modification factors. The nuclear modification factors for η\eta and η\eta' mesons agree at both forward and backward rapidity, showing no significant evidence of mass dependence. The differential cross sections of η\eta mesons are also used to calculate η/π0\eta/\pi^0 cross section ratios, which show evidence of a deviation from the world average. These studies offer new constraints on mass-dependent nuclear effects in heavy-ion collisions, as well as η\eta and η\eta' meson fragmentation.Comment: All figures and tables, along with machine-readable versions and any supplementary material and additional information, are available at https://lhcbproject.web.cern.ch/Publications/p/LHCb-PAPER-2023-030.html (LHCb public pages

    Fraction of χc\chi_c decays in prompt J/ψJ/\psi production measured in pPb collisions at sNN=8.16\sqrt{s_{NN}}=8.16 TeV

    Get PDF
    The fraction of χc1\chi_{c1} and χc2\chi_{c2} decays in the prompt J/ψJ/\psi yield, Fχc=σχcJ/ψ/σJ/ψF_{\chi c}=\sigma_{\chi_c \to J/\psi}/\sigma_{J/\psi}, is measured by the LHCb detector in pPb collisions at sNN=8.16\sqrt{s_{NN}}=8.16 TeV. The study covers the forward (1.5<y<4.01.5<y^*<4.0) and backward (5.0<y<2.5-5.0<y^*<-2.5) rapidity regions, where yy^* is the J/ψJ/\psi rapidity in the nucleon-nucleon center-of-mass system. Forward and backward rapidity samples correspond to integrated luminosities of 13.6 ±\pm 0.3 nb1^{-1} and 20.8 ±\pm 0.5 nb1^{-1}, respectively. The result is presented as a function of the J/ψJ/\psi transverse momentum pT,J/ψp_{T,J/\psi} in the range 1<pT,J/ψ<20<p_{T, J/\psi}<20 GeV/cc. The FχcF_{\chi c} fraction at forward rapidity is compatible with the LHCb measurement performed in pppp collisions at s=7\sqrt{s}=7 TeV, whereas the result at backward rapidity is 2.4 σ\sigma larger than in the forward region for 1<pT,J/ψ<31<p_{T, J/\psi}<3 GeV/cc. The increase of FχcF_{\chi c} at low pT,J/ψp_{T, J/\psi} at backward rapidity is compatible with the suppression of the ψ\psi(2S) contribution to the prompt J/ψJ/\psi yield. The lack of in-medium dissociation of χc\chi_c states observed in this study sets an upper limit of 180 MeV on the free energy available in these pPb collisions to dissociate or inhibit charmonium state formation.Comment: All figures and tables, along with machine-readable versions and any supplementary material and additional information, are available at https://cern.ch/lhcbproject/Publications/p/LHCb-PAPER-2023-028.html (LHCb public pages
    corecore