VirtualEar: Diseño y construcción de un audiómetro virtual

Se desarrolló un audiómetro virtual en la plataforma de instrumentación virtual Labview 7.1. VirtualEar es un sistema que permite evaluar la capacidad auditiva mediante la realización de una prueba de audiometría aérea con posibilidad de enmascaramiento para detectar la audición cruzada. La audiometría se realiza reproduciendo tonos puros en el intervalo de frecuencias audibles (125Hz-8000Hz) con intensidad de presión sonora (SPL) variable en un rango de 0dB a 110dB. El enmascaramiento consiste en enviar una señal de ruido blanco al oído opuesto del que se está evaluando la capacidad auditiva. Ambas señales se emiten por dos canales separados y conforme se hace la prueba se van detectando los umbrales de mínima presión sonora audible. El audiómetro virtual VirtualEar permite generar y guardar la información en tablas, gráficos y reportes. Además permite manejar archivos de cada paciente e imprimir resultados.A virtual audiometer was developed using the virtual instrumentation platform Labview7.1. VirtualEar is a system that permits the evaluation of the audible capacity of a person, through an audiometric prove by air, with masking, to detect the crossed audition. The audiometry is done producing pure tones in the audible frequency’s range (125Hz-8000Hz) with pressure intensity that varies in a range from 0dB to 100dB. Masking consists on sending a white noise signal to the opposite ear of the one that is being tested. Both signals are emitted through two separate channels, and in that way, the threshold of minimum audible pressure is detected. VirtualEar also permits to generate and save the information in tables, graphics and reports. Furthermore, it’s possible to control each patient’s files and print the results

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