La descentralización, ¿parte del problema sanitario o de su solución?

ResumenEl mayor cambio que ha experimentado la sanidad española en las dos últimas décadas es probablemente el de la generalización de la transferencia a las CCAA que integran el Estado. Este hecho puede generar tensiones en el status quo. ¿Es compatible la descentralización sanitaria con un Servicio Nacional de Salud cohesionado? ¿Es la descentralización sanitaria parte del problema o de la solución? La generalización de las transferencias de una manera tan rápida como la experimentada en nuestro país (negociada en poco menos de 6 meses, con acuerdos financieros de mínimos, en ausencia de marcos legales explícitos en los ámbitos de la coordinación y del desarrollo de normativa básica, con un nuevo acuerdo de financiación autonómica general del que no se conocen aunque se intuyen algunas lagunas, etc.) ofrece un presente con interrogantes. Un posible mal uso de las amplias competencias transferidas por parte de las nuevas comunidades en ejercicio de sus poderes es fácilmente utilizable por parte de quienes añoran el centralismo preconstitucional, para levantar todo tipo de temores entre la población de resquebrajamiento de la sanidad pública en tanto pilar fundamental del Estado de bienestar. El trabajo se dirige de modo sucinto a los extremos anteriores.AbstractThe greatest change experienced by the Spanish health system in the last two decades has probably been the devolution of power to the autonomous communities composing the Spanish state. This may generate tensions in the status quo and poses questions of whether decentralization of the health system is compatible with a cohesive national health system and whether this devolution of power is part of the problem of the health system or part of its solution. Generalized devolution occurring as rapidly as that produced in Spain (negotiated in slightly less than 6 months, with minimal financial agreements, without explicit legal frameworks in the areas of coordination and development of basic norms, and with a new agreement of general financing of the autonomous communities which possibly contains lacunae, etc.) presents an uncertain panorama. The possible misuse of the wide powers recently transferred to the autonomous communities could easily be used by those who would like to see a restoration of pre-democratic centralism to sow fear of the collapse of the health service as the cornerstone of the welfare state among the general public. The present article briefly addresses these questions

A simple framework for analysing the impact of economic growth on non-communicable diseases

YesNon-communicable diseases (NCDs) are currently the leading cause of death worldwide. In this paper, we examine the channels through which economic growth affects NCDs’ epidemiology. Following a production function approach, we develop a basic technique to break up the impact of economic growth on NCDs into three fundamental components: (1) a resource effect; (2) a behaviour effect; and (3) a knowledge effect. We demonstrate that each of these effects can be measured as the product of two elasticities, the output and income elasticity of the three leading factors influencing the frequency of NCDs in any population: health care, healthrelated behaviours and lifestyle, and medical knowledge

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

Background and Objectives Genetic white matter disorders (GWMD) are of heterogeneous origin, with >100 causal genes identified to date. Classic targeted approaches achieve a molecular diagnosis in only half of all patients. We aimed to determine the clinical utility of singleton whole-exome sequencing and whole-genome sequencing (sWES-WGS) interpreted with a phenotype- and interactome-driven prioritization algorithm to diagnose GWMD while identifying novel phenotypes and candidate genes. Methods A case series of patients of all ages with undiagnosed GWMD despite extensive standard-of-care paraclinical studies were recruited between April 2017 and December 2019 in a collaborative study at the Bellvitge Biomedical Research Institute (IDIBELL) and neurology units of tertiary Spanish hospitals. We ran sWES and WGS and applied our interactome-prioritization algorithm based on the network expansion of a seed group of GWMD-related genes derived from the Human Phenotype Ontology terms of each patient. Results We evaluated 126 patients (101 children and 25 adults) with ages ranging from 1 month to 74 years. We obtained a first molecular diagnosis by singleton WES in 59% of cases, which increased to 68% after annual reanalysis, and reached 72% after WGS was performed in 16 of the remaining negative cases. We identified variants in 57 different genes among 91 diagnosed cases, with the most frequent being RNASEH2B, EIF2B5, POLR3A, and PLP1, and a dual diagnosis underlying complex phenotypes in 6 families, underscoring the importance of genomic analysis to solve these cases. We discovered 9 candidate genes causing novel diseases and propose additional putative novel candidate genes for yet-to-be discovered GWMD. Discussion Our strategy enables a high diagnostic yield and is a good alternative to trio WES/WGS for GWMD. It shortens the time to diagnosis compared to the classical targeted approach, thus optimizing appropriate management. Furthermore, the interactome-driven prioritization pipeline enables the discovery of novel disease-causing genes and phenotypes, and predicts novel putative candidate genes, shedding light on etiopathogenic mechanisms that are pivotal for myelin generation and maintenance

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

BackgroundWhole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algorithms to maximise WES/WGS diagnostic yield in rare disease patients. Most tools devoted to this aim take advantage of patient phenotype information for prioritization of genomic data, although are often limited by incomplete gene-phenotype knowledge stored in biomedical databases and a lack of proper benchmarking on real-world patient cohorts.MethodsWe developed ClinPrior, a novel method for the analysis of WES/WGS data that ranks candidate causal variants based on the patient's standardized phenotypic features (in Human Phenotype Ontology (HPO) terms). The algorithm propagates the data through an interactome network-based prioritization approach. This algorithm was thoroughly benchmarked using a synthetic patient cohort and was subsequently tested on a heterogeneous prospective, real-world series of 135 families affected by hereditary spastic paraplegia (HSP) and/or cerebellar ataxia (CA).ResultsClinPrior successfully identified causative variants achieving a final positive diagnostic yield of 70% in our real-world cohort. This includes 10 novel candidate genes not previously associated with disease, 7 of which were functionally validated within this project. We used the knowledge generated by ClinPrior to create a specific interactome for HSP/CA disorders thus enabling future diagnoses as well as the discovery of novel disease genes.ConclusionsClinPrior is an algorithm that uses standardized phenotype information and interactome data to improve clinical genomic diagnosis. It helps in identifying atypical cases and efficiently predicts novel disease-causing genes. This leads to increasing diagnostic yield, shortening of the diagnostic Odysseys and advancing our understanding of human illnesses

Database of spatial distribution of non indigenous species in Spanish marine waters

Research in marine Spanish waters are focused on several actions to achieve an effectively management on protected areas, with the active participation of the stakeholders and research as basic tools for decision-making. Among these actions, there is one about the knowledge and control on NIS. One of its objectives is the creation of NIS factsheets, which are going to be added to the National Marine Biodiversity Geographical System (GIS) providing complementary information about taxonomic classification, common names, taxonomic synonyms, species illustrations, identification morphological characters, habitat in the native and introduced regions, biological and ecological traits, GenBank DNA sequences, world distribution, first record and evolution in the introduced areas, likely pathways of introduction, effects in the habitats and interaction with native species, and potential management measures to apply. The database will also provide data for (1) the European online platforms, (2) the environmental assessment for the Descriptor 2 (D2-NIS) of the EU Marine Strategy Framework Directive (MSFD), as well as (3) supporting decisions made by stakeholders. It is the result of extensive collaboration among scientist, manager’s and citizen science in the Spanish North-Atlantic, South-Atlantic, Gibraltar Strait-Alboran, Levantine-Balearic and Canary Islands marine divisions, providing an updated overview of the spatial distribution of relevant extended and invasive NIS of recent and established NIS introduced by maritime transport and aquaculture pathways, as well as on cryptogenic or native species in expansion due to the climatic water warming trend

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

Registro Español de Trasplante Cardiaco. XXXI Informe Oficial de la Asociación de Insuficiencia Cardiaca de la Sociedad Española de Cardiología

Introducción y objetivos Se presentan las características clínicas y los resultados de los trasplantes cardiacos realizados en España con la actualización correspondiente a 2019. Métodos Se describen las características clínicas y los resultados de los trasplantes cardiacos realizados en 2019, así como las tendencias de estos en el periodo 2010-2018. Resultados En 2019 se realizaron 300 trasplantes (8.794 desde 1984; 2.745 entre 2010 y 2019). Respecto a años previos, los cambios más llamativos son el descenso hasta el 38% de los trasplantes realizados en código urgente, y la consolidación en el cambio de asistencia circulatoria pretrasplante, con la práctica desaparición del balón de contrapulsación (0, 7%), la estabilización del uso del oxigenador extracorpóreo de membrana (9, 6%) y el aumento de los dispositivos de asistencia ventricular (29%). La supervivencia en el trienio 2016-2018 es similar a la del trienio 2013-2015 (p = 0, 34), y ambas mejores que la del trienio 2010-2012 (p = 0, 002 y p = 0, 01 respectivamente). Conclusiones Se mantienen estables tanto la actividad del trasplante cardiaco en España como los resultados en supervivencia en los últimos 2 trienios. Hay una tendencia a realizar menos trasplantes urgentes, la mayoría con dispositivos de asistencia ventricular. Introduction and objectives: The present report describes the clinical characteristics and outcomes of heart transplants in Spain and updates the data to 2019. Methods: We describe the clinical characteristics and outcomes of heart transplants performed in Spain in 2019, as well as trends in this procedure from 2010 to 2018. Results: In 2019, 300 transplants were performed (8794 since 1984; 2745 between 2010 and 2019). Compared with previous years, the most notable findings were the decreasing rate of urgent transplants (38%), and the consolidation of the type of circulatory support prior to transplant, with an almost complete disappearance of counterpulsation balloon (0.7%), stabilization in the use of extracorporeal membrane oxygenation (9.6%), and an increase in the use of ventricular assist devices (29.0%). Survival from 2016 to 2018 was similar to that from 2013 to 2015 (P = .34). Survival in both these periods was better than that from 2010 to 2012 (P = .002 and P = .01, respectively). Conclusions: Heart transplant activity has remained stable during the last few years, as have outcomes (in terms of survival). There has been a trend to a lower rate of urgent transplants and to a higher use of ventricular assist devices prior to transplant

Una guía de navegación para ordenar y clarificar el debate sanitario

ResumenEn este breve trabajo pretendemos orientar la discusión sobre distintas alternativas de reforma que hoy se barajan en nuestro sistema sanitario. En base a una pequeña reflexión inicial el texto procura que el lector, a la vista de los efectos que se derivan de cada una de las opciones presentes, consiga una máxima coherencia en sus argumentos para una decisión plenamente informada. El artículo pretende, finalmente, ayudar a descubrir, a la vista de lo que sabemos y no sabemos acerca de los efectos de las distintas opciones de política sanitaria, una agenda de investigación que evite tanto situaciones complacientes como afirmaciones contundentes en un tema tan complejo como el abordado.El texto desarrolla su argumento en formato de árbol de decisión, aunque su presentación no se formaliza excesivamente. Las simplificaciones que se efectúan se justifican por el esfuerzo de impregnar el texto de un tono lo más clarificador posible. Se trata de un análisis de tipo cualitativo. Cada nudo recoge los aspectos más relevantes, relativos a los fundamentos de economía y salud que impregnan cada una de las alternativas, y que se han de tener en cuenta, a juicio del autor, a la hora de adoptar la decisión más apropiada.SummaryIn this brief paper, discussion focuses on options currently under consideration for the reform of the Spanish health care system. After a brief review, readers are advised, in view of the consequences of each option, to consider all the arguments in order to make fully informed decisions. Finally, it is proposed that, in view of what is known and unknown about the effects of different health care policy options, a research agenda be found that avoids both complacency and categorical affirmations regarding this complex topic. Arguments are roughly presented as an algorithm. Simplifications are made for the sake of clarity and the analysis is qualitative. Each nexus of the algorithm covers the most relevant aspects of the economic and health care issues that each alternative involves. In the author's opinion, these points should be kept in mind when making decisions