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

In-hospital prognostic value of functional assessment using the Barthel index in patients with acute coronary syndrome: Initial evaluation of the nurse in the cardiac intensive care unit

Sin financiación1.336 JCR (2014) Q4, 24/27 Critical Care MedicineUE

Knowledge in Basic Life Support and Automated External Defibrillator Among the Local Police of a Geographical Area of Spain

Sin financiación0.476 SJR (2016) Q3, 179/344 Cardiology and Cardiovascular MedicineUE

Cardiac device infections is associated with pocket hematoma and diabetes mellitus: the role of the cardiovascular nurse

Sin financiación4.036 JCR (2014) Q1, 28/123 Cardiac & Cardiovascular SystemsUE

Papel de la enfermería en las unidades de cuidados intensivos cardiológicos para predecir la estancia media hospitalaria mediante el índice de Barthel en pacientes con síndrome coronario agudo

1.240 JCR (2013) Q4, 24/27 Critical care medicineUE

Papel de la enfermería en las unidades de cuidados intensivos cardiológicos para predecir la estancia media hospitalaria mediante el índice de Barthel en pacientes con síndrome coronario agudo

1.240 JCR (2013) Q4, 24/27 Critical care medicineUE

La Rábida : Revista Colombina Hispanoamericana. Número 198 - Año XIX

32 páginasPérez Nieva, Alfonso: Aguas fuertes Colombinas. Tercer Viaje. Decimoquinta estampa.- Bersandín: Desde Madrid. De acá y de allá.- Saenz, Vicente: ¿Puede la Gran Bretaña reclamar derechos de paridad con EEUU en la construcción y defensa del Canal de Nicaragua? (Conclusión, ver números anteriores).- Fernández Pesquero, Javier: El Triángulo Rojo. El verdadero secreto de las revoluciones de Bolivia, Perú y Argentina.- El Instituto Iberoamericano en Berlín. Como trabaja y como se propone trabajar esta nueva Institución.- Caballero, José: Dibujo e historia de la Plaza Mayor de Madrid.- Páginas dedicadas a Gibraleón y Cumbres de Enmedio.- La Herida de Puerto Rico.- Vázquez, B.: De nuestro acervo. Otro cuento de Reyes.- Estévez Lozano, José: Sobre arquitectura.- Morales Rollán, Felipe: Relampagueos Colombinos.- Segundo Concurso de La Rábida (para niños

Strong gamma-ray emission from neutron unbound states populated in ß-decay: Impact on (n,gamma) cross-section estimates

J. L. Taín et al. -- 6 pags., 7 figs., 1 tab. -- Open Access funded by Creative Commons Atribution Licence 4.0Total absorption gamma-ray spectroscopy is used to measure accurately the intensity of ¿ emission from neutron-unbound states populated in the ß-decay of delayed-neutron emitters. From the comparison of this intensity with the intensity of neutron emission one can deduce information on the (n,¿) cross section for unstable neutron-rich nuclei of interest in r process abundance calculations. A surprisingly large ¿ branching was observed for a number of isotopes. The results are compared with Hauser-Feshbach calculations and discussed.This work was supported by Spanish Ministerio de Economía y Competitividad under grants FPA2008-06419, FPA2010- 17142, FPA2011-24553, FPA2014-52823-C2-1-P, CPAN CSD- 2007-00042 (Ingenio2010) and the program Severo Ochoa (SEV-2014-0398). WG would like to thank the University of Valencia for support. This work was supported by the Academy of Finland under the Finnish Centre of Excellence Programme 2012-2017 (Project No. 21350). Work supported by EPSRC(UK) and STFC(UK) and the UK National Measurement Office. Work supported by the European Commission under the FP7/EURATOM contract 605203. FGK acknowledges support from the U.S. Department of Energy, under contract number DEAC02- 06CH11357.Peer Reviewe