Los aportes de aerosoles afectan las propiedades ópticas de la materia orgánica disuelta en las aguas costeras del Mediterráneo Noroccidental

10 pages, 6 figures, 1 table[EN] Aeolian inputs of organic and inorganic nutrients to the ocean are important as they can enhance biological production in surface waters, especially in oligotrophic areas like the Mediterranean. The Mediterranean littoral is particularly exposed to both anthropogenic and Saharan aerosol depositions on a more or less regular basis. During the last few decades experimental studies have been devoted to examining the effect of inorganic nutrient inputs from dust on microbial activity. In this study, we performed experiments at two different locations of the NW Mediterranean, where we evaluated the changes in the quality and quantity of dissolved organic matter due to atmospheric inputs of different origin (Saharan and anthropogenic) and its subsequent transformations mediated by microbial activities. In both experiments the humic-like and protein-like substances, and the fluorescence quantum yield increased after addition. In general, these changes in the quality of dissolved organic matter did not significantly affect the prokaryotes. The recalcitrant character of the fluorescent dissolved organic matter (FDOM) associated with aerosols was confirmed, as we found negligible utilization of chromophoric compounds over the experimental period. We framed these experiments within a two-year time series data set of atmospheric deposition and coastal surface water analyses. These observations showed that both Saharan and anthropogenic inputs induced changes in the quality of organic matter, increasing the proportion of FDOM substances. This increase was larger during Saharan dust events than in the absence of Saharan influence[ES] Los aportes atmosféricos de nutrientes orgánicos e inorgánicos al océano son importantes ya que pueden aumentar la producción biológica en aguas superficiales, especialmente en las zonas oligotróficas como el Mediterráneo. El litoral del Mediterráneo está particularmente expuesto a aportes de origen antropogénico y a deposiciones de polvo sahariano de forma más o menos regular. Durante las últimas décadas los estudios experimentales se han dedicado, sobre todo, a examinar el efecto de la entrada de nutrientes inorgánicos atmosféricos sobre la actividad microbiana. En este estudio, se realizaron experimentos con comunidades microbianas procedentes de dos zonas del Mediterráneo noroccidental. Se evaluaron los cambios en la calidad y cantidad de la materia orgánica disuelta debido a aportes atmosféricos de distinto origen y sus posteriores transformaciones mediadas por actividades microbianas. En ambos experimentos las sustancias orgánicas fluorescentes y el rendimiento cuántico de fluorescencia aumentaron después de la adición de material atmosférico. En general, estos cambios en la calidad de la materia orgánica no afectaron significativamente a los organismos procariotas. El carácter recalcitrante de la materia orgánica disuelta fluorescente (FDOM) contenida en los aerosoles se confirmó ya que la utilización de compuestos cromóforos durante el período experimental fue insignificante. Los resultados obtenidos se contextualizan en relación con una serie temporal de dos años de datos adquiridos de deposición atmosférica y análisis de agua superficial costera. La variabilidad temporal de estas dos variables mostró que tanto los aportes saharianos como antropogénicos provocaron cambios en la calidad de la materia orgánica disuelta en aguas superficiales, incrementando la fracción fluorescente. Éste aumento resultó ser mayor durante eventos de polvo sahariano que en ausencia de ellosThis study was supported by the projects 1179-1198. ADEPT (CTM2011-23458), DOREMI (CTM2012-342949) and ANIMA (CTM2015-65720-R MINECO/FEDER, UE). E.D. Sánchez-Pérez would like to thank the Consejo Nacional de Ciencia y Tecnologia (CONACyT) for their financial support through a PhD fellowship. I. Marín thanks the FPI Spanish scholarship programme for its support (BES 2012-052976)Peer Reviewe

Red de coordinación de la implantación del primer curso del grado en Tecnologías de la Información para la Salud

En este trabajo se ha intentado recoger las acciones que se han llevado a cabo en la coordinación de la implantación del primer curso del nuevo grado de Tecnologías de la Información para la Salud, grado con un marcado carácter multidisciplinar que condiciona la enseñanza de los contenidos. Entre estas acciones se han revisado las guías de cada asignatura participante en la red y se han realizado reuniones de seguimiento de la implantación de las asignaturas para detectar fortalezas y debilidades en el proceso docente. También se ha contado con la opinión de alumnos bien a través de encuestas bien directamente en conversaciones con los representantes del alumnado. Pretendemos que las conclusiones obtenidas tras el análisis de resultados se puedan aplicar el curso que viene y, de esta forma, avanzar en la implantación de la titulación con calidad y, especialmente, con el objetivo de formar egresados que satisfagan las necesidades de la sociedad

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An improved understanding of the genetic control of gene expression in human brain is vital considering this is the likely modus operandum for many causal variants. However, human brain sampling complexities limit the explanatory power of brain-related expression quantitative trait loci (eQTL) and allele-specific expression (ASE) signals. We address this, using paired genomic and transcriptomic data from putamen and substantia nigra from 117 human brains, interrogating regulation at different RNA processing stages and uncovering novel transcripts. We identify disease-relevant regulatory loci, find that splicing eQTLs are enriched for regulatory information of neuron-specific genes, that ASEs provide cell-specific regulatory information with evidence for cellular specificity, and that incomplete annotation of the brain transcriptome limits interpretation of risk loci for neuropsychiatric disease. This resource of regulatory data is accessible through our web server, http://braineacv2.inf.um.es/

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

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

Background Genome-wide association studies (GWAS) in Parkinson's disease have increased the scope of biological knowledge about the disease over the past decade. We aimed to use the largest aggregate of GWAS data to identify novel risk loci and gain further insight into the causes of Parkinson's disease. Methods We did a meta-analysis of 17 datasets from Parkinson's disease GWAS available from European ancestry samples to nominate novel loci for disease risk. These datasets incorporated all available data. We then used these data to estimate heritable risk and develop predictive models of this heritability. We also used large gene expression and methylation resources to examine possible functional consequences as well as tissue, cell type, and biological pathway enrichments for the identified risk factors. Additionally, we examined shared genetic risk between Parkinson's disease and other phenotypes of interest via genetic correlations followed by Mendelian randomisation. Findings Between Oct 1, 2017, and Aug 9, 2018, we analysed 7·8 million single nucleotide polymorphisms in 37 688 cases, 18 618 UK Biobank proxy-cases (ie, individuals who do not have Parkinson's disease but have a first degree relative that does), and 1·4 million controls. We identified 90 independent genome-wide significant risk signals across 78 genomic regions, including 38 novel independent risk signals in 37 loci. These 90 variants explained 16–36% of the heritable risk of Parkinson's disease depending on prevalence. Integrating methylation and expression data within a Mendelian randomisation framework identified putatively associated genes at 70 risk signals underlying GWAS loci for follow-up functional studies. Tissue-specific expression enrichment analyses suggested Parkinson's disease loci were heavily brain-enriched, with specific neuronal cell types being implicated from single cell data. We found significant genetic correlations with brain volumes (false discovery rate-adjusted p=0·0035 for intracranial volume, p=0·024 for putamen volume), smoking status (p=0·024), and educational attainment (p=0·038). Mendelian randomisation between cognitive performance and Parkinson's disease risk showed a robust association (p=8·00 × 10−7). Interpretation These data provide the most comprehensive survey of genetic risk within Parkinson's disease to date, to the best of our knowledge, by revealing many additional Parkinson's disease risk loci, providing a biological context for these risk factors, and showing that a considerable genetic component of this disease remains unidentified. These associations derived from European ancestry datasets will need to be followed-up with more diverse data. Funding The National Institute on Aging at the National Institutes of Health (USA), The Michael J Fox Foundation, and The Parkinson's Foundation (see appendix for full list of funding sources)

Evaluation of factors leading to poor outcomes for pediatric acute lymphoblastic leukemia in Mexico: a multi-institutional report of 2,116 patients

Background and aimsPediatric acute lymphoblastic leukemia (ALL) survival rates in low- and middle-income countries are lower due to deficiencies in multilevel factors, including access to timely diagnosis, risk-stratified therapy, and comprehensive supportive care. This retrospective study aimed to analyze outcomes for pediatric ALL at 16 centers in Mexico.MethodsPatients <18 years of age with newly diagnosed B- and T-cell ALL treated between January 2011 and December 2019 were included. Clinical and biological characteristics and their association with outcomes were examined.ResultsOverall, 2,116 patients with a median age of 6.3 years were included. B-cell immunophenotype was identified in 1,889 (89.3%) patients. The median white blood cells at diagnosis were 11.2.5 × 103/mm3. CNS-1 status was reported in 1,810 (85.5%), CNS-2 in 67 (3.2%), and CNS-3 in 61 (2.9%). A total of 1,488 patients (70.4%) were classified as high-risk at diagnosis. However, in 52.5% (991/1,889) of patients with B-cell ALL, the reported risk group did not match the calculated risk group allocation based on National Cancer Institute (NCI) criteria. Fluorescence in situ hybridization (FISH) and PCR tests were performed for 407 (19.2%) and 736 (34.8%) patients, respectively. Minimal residual disease (MRD) during induction was performed in 1,158 patients (54.7%). The median follow-up was 3.7 years. During induction, 191 patients died (9.1%), and 45 patients (2.1%) experienced induction failure. A total of 365 deaths (17.3%) occurred, including 174 deaths after remission. Six percent (176) of patients abandoned treatment. The 5-year event-free survival (EFS) was 58.9% ± 1.7% for B-cell ALL and 47.4% ± 5.9% for T-cell ALL, while the 5-year overall survival (OS) was 67.5% ± 1.6% for B-cell ALL and 54.3% ± 0.6% for T-cell ALL. The 5-year cumulative incidence of central nervous system (CNS) relapse was 5.5% ± 0.6%. For the whole cohort, significantly higher outcomes were seen for patients aged 1–10 years, with DNA index >0.9, with hyperdiploid ALL, and without substantial treatment modifications. In multivariable analyses, age and Day 15 MRD continued to have a significant effect on EFS.ConclusionOutcomes in this multi-institutional cohort describe poor outcomes, influenced by incomplete and inconsistent risk stratification, early toxic death, high on-treatment mortality, and high CNS relapse rate. Adopting comprehensive risk-stratification strategies, evidence-informed de-intensification for favorable-risk patients and optimized supportive care could improve outcomes

Colombian consensus recommendations for diagnosis, management and treatment of the infection by SARS-COV-2/ COVID-19 in health care facilities - Recommendations from expert´s group based and informed on evidence

La Asociación Colombiana de Infectología (ACIN) y el Instituto de Evaluación de Nuevas Tecnologías de la Salud (IETS) conformó un grupo de trabajo para desarrollar recomendaciones informadas y basadas en evidencia, por consenso de expertos para la atención, diagnóstico y manejo de casos de Covid 19. Estas guías son dirigidas al personal de salud y buscar dar recomendaciones en los ámbitos de la atención en salud de los casos de Covid-19, en el contexto nacional de Colombia