CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative

Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

Organizational culture and knowledge cycle in the SMES of the tourist sector of the department of Caldas - Colombia

This article presents the results of a research that aims to determine the state of advancement of the life cycle of organizational knowledge related to the organizational culture in the SMEs of the tourism sector in the Department of Caldas, Colombia (part of the Eje Cafeteria region of Colombia). From a qualitative research, with a descriptive and correlational study, an evaluation model was applied in the SMEs of the tourism sector of the Department of Caldas (87% valued), from which it was found the consolidation of an organizational culture for the development of the life cycle of knowledge in the SMEs evaluated. With these results, it is expected to deepen the dynamics of business knowledge management and propose strategies that help improve processes and generate social wealth.En este artículo se presentan los resultados de una investigación que tiene como objetivo determinar el estado de avance del ciclo de vida del conocimiento organizacional relacionado con la cultura organizacional en las PYMES del sector turístico del Departamento de Caldas, Colombia (parte de la región del Eje Cafetero colombiano). A partir de una investigación cualitativa, con un estudio de tipo descriptivo y correlacional, se aplicó un modelo de evaluación en las PYMES del sector turismo del Departamento de Caldas (87% valorado), a partir del cual se encontró la consolidación de una cultura organizacional para el desarrollo del ciclo de vida del conocimiento en las PYMES evaluadas. Con estos resultados se espera profundizar en la dinámica de gestión del conocimiento empresarial y proponer estrategias que ayuden a mejorar los procesos y a generar riqueza social

Desarrollo de procesos productivos de quesos madurados en tres municipios del departamento de Caldas

Responding to the need to provide added value to milk produced in the towns of Salamis, Aranzazu and Viterbo in the Caldas department, a project was formulated with the overall objective of developing the production of ripened cheeses destined for domestic and international markets. The physicochemical characteristics of raw milk from these municipalities were thus studied initially, finding that standards regarding milk quality and density (1.030-1.033 g / l), total dry extract (11.30%) and defatted dry extract (8.30%) for the first two came within the range considered normal for cheese-making. Subsequently, Camembert, Cheddar, Emmental, Gruyere and Gouda cheese-making processes were developed in the University of Caldas� Food Technology Unit, using an pre-experimental design having a single measurement and using techniques currently validated for ripened cheese preparation. Such processes were analysed for the sensory characteristics and evolution involved in ripening (proteolysis and lipolysis changes). Standardising Camembert, Cheddar and Gouda cheese production should be stressed among the results as they eventually complied with the highest sensory preferences and optimum ripening as verified by parameters such as degree of acidity, ripeness and protein and moisture percentage. It was thus found feasible to develop some ripened cheeses from milk produced in the northern municipalities of Caldas and transfer the results to its collection centres for providing greater added value to raw milk production at semi-industrial level.En respuesta a la necesidad de dar valor agregado a la leche producida en los municipios de Salamina, Aranzazu y Viterbo, del departamento de Caldas, se formuló un proyecto con el objetivo general de desarrollar quesos madurados con destino a los mercados nacional e internacional. Para ello, inicialmente se realizó un estudio de caracterización físico-química de la leche cruda proveniente de esos municipios, encontrándose que los estándares de calidad como densidad (1.030-1.033 g/l), extracto seco total (11.30%), y extracto seco desengrasado (8,30%) de la leche de los dos primeros se hallan en el rango considerado normal para la elaboración de quesos. Posteriormente, se desarrollaron los procesos productivos de los quesos Cammembert, Cheddar, Emmental, Gruyere y Gouda, en la Unidad Tecnológica de alimentos, de la Universidad de Caldas, bajo un diseño experimental de pre-experimento con una sola medición y utilizando las técnicas validadas actualmente para su elaboración; dichos procesos fueron analizados con las características sensoriales y la evolución de los fenómenos de maduración (cambios de proteólisis y lipólisis). Entre los resultados obtenidos se destaca la estandarización de los procesos para quesos Cammembert, Cheddar y Gouda, que alcanzaron las mayores preferencias sensoriales y una maduración óptima verificada mediante parámetros como grado de acidez, grado de maduración, acidez, porcentaje de proteína y humedad. De esta manera se pudo comprobar que es factible desarrollar algunos quesos madurados con leches procedentes de los municipios del norte de Caldas y transferir los resultados a sus centros de acopio para darle un mayor valor agregado a la producción de leche cruda a nivel semiindustrial

The DUNE Far Detector Vertical Drift Technology, Technical Design Report

International audienceDUNE is an international experiment dedicated to addressing some of the questions at the forefront of particle physics and astrophysics, including the mystifying preponderance of matter over antimatter in the early universe. The dual-site experiment will employ an intense neutrino beam focused on a near and a far detector as it aims to determine the neutrino mass hierarchy and to make high-precision measurements of the PMNS matrix parameters, including the CP-violating phase. It will also stand ready to observe supernova neutrino bursts, and seeks to observe nucleon decay as a signature of a grand unified theory underlying the standard model. The DUNE far detector implements liquid argon time-projection chamber (LArTPC) technology, and combines the many tens-of-kiloton fiducial mass necessary for rare event searches with the sub-centimeter spatial resolution required to image those events with high precision. The addition of a photon detection system enhances physics capabilities for all DUNE physics drivers and opens prospects for further physics explorations. Given its size, the far detector will be implemented as a set of modules, with LArTPC designs that differ from one another as newer technologies arise. In the vertical drift LArTPC design, a horizontal cathode bisects the detector, creating two stacked drift volumes in which ionization charges drift towards anodes at either the top or bottom. The anodes are composed of perforated PCB layers with conductive strips, enabling reconstruction in 3D. Light-trap-style photon detection modules are placed both on the cryostat's side walls and on the central cathode where they are optically powered. This Technical Design Report describes in detail the technical implementations of each subsystem of this LArTPC that, together with the other far detector modules and the near detector, will enable DUNE to achieve its physics goals

The DUNE Far Detector Vertical Drift Technology, Technical Design Report

International audienceDUNE is an international experiment dedicated to addressing some of the questions at the forefront of particle physics and astrophysics, including the mystifying preponderance of matter over antimatter in the early universe. The dual-site experiment will employ an intense neutrino beam focused on a near and a far detector as it aims to determine the neutrino mass hierarchy and to make high-precision measurements of the PMNS matrix parameters, including the CP-violating phase. It will also stand ready to observe supernova neutrino bursts, and seeks to observe nucleon decay as a signature of a grand unified theory underlying the standard model. The DUNE far detector implements liquid argon time-projection chamber (LArTPC) technology, and combines the many tens-of-kiloton fiducial mass necessary for rare event searches with the sub-centimeter spatial resolution required to image those events with high precision. The addition of a photon detection system enhances physics capabilities for all DUNE physics drivers and opens prospects for further physics explorations. Given its size, the far detector will be implemented as a set of modules, with LArTPC designs that differ from one another as newer technologies arise. In the vertical drift LArTPC design, a horizontal cathode bisects the detector, creating two stacked drift volumes in which ionization charges drift towards anodes at either the top or bottom. The anodes are composed of perforated PCB layers with conductive strips, enabling reconstruction in 3D. Light-trap-style photon detection modules are placed both on the cryostat's side walls and on the central cathode where they are optically powered. This Technical Design Report describes in detail the technical implementations of each subsystem of this LArTPC that, together with the other far detector modules and the near detector, will enable DUNE to achieve its physics goals

The DUNE Far Detector Vertical Drift Technology, Technical Design Report

International audienceDUNE is an international experiment dedicated to addressing some of the questions at the forefront of particle physics and astrophysics, including the mystifying preponderance of matter over antimatter in the early universe. The dual-site experiment will employ an intense neutrino beam focused on a near and a far detector as it aims to determine the neutrino mass hierarchy and to make high-precision measurements of the PMNS matrix parameters, including the CP-violating phase. It will also stand ready to observe supernova neutrino bursts, and seeks to observe nucleon decay as a signature of a grand unified theory underlying the standard model. The DUNE far detector implements liquid argon time-projection chamber (LArTPC) technology, and combines the many tens-of-kiloton fiducial mass necessary for rare event searches with the sub-centimeter spatial resolution required to image those events with high precision. The addition of a photon detection system enhances physics capabilities for all DUNE physics drivers and opens prospects for further physics explorations. Given its size, the far detector will be implemented as a set of modules, with LArTPC designs that differ from one another as newer technologies arise. In the vertical drift LArTPC design, a horizontal cathode bisects the detector, creating two stacked drift volumes in which ionization charges drift towards anodes at either the top or bottom. The anodes are composed of perforated PCB layers with conductive strips, enabling reconstruction in 3D. Light-trap-style photon detection modules are placed both on the cryostat's side walls and on the central cathode where they are optically powered. This Technical Design Report describes in detail the technical implementations of each subsystem of this LArTPC that, together with the other far detector modules and the near detector, will enable DUNE to achieve its physics goals