219 research outputs found

    Characterizing transcriptome variation in human populations at single-cell resolution

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    Phenotypic diversity in human populations is a direct consequence of genetic variation, which acts in conjunction with environmental and behavioral factors to produce phenotypic variation, from eye color and height to disease susceptibility and responses to drugs (1). High population-specific variability in disease’s prevalence have been described, including multiple examples where a disease is strongly overrepresented in a single population, for instance sickle cell anemia in Africans, hemochromatosis in Northern-Europeans or familial Gaucher’s disease in Ashkenazi Jews (2). In addition, population differences in response to drugs have been documented, for instance, 5-Fluorouracil (cancer chemotherapeutic), Warfarin (anticoagulant for preventing thrombosis and embolism) or nicotine (3). In this context, there has been a growing interest in profiling the molecular causes underlying infectious disease-related phenotypic differences across individuals from populations of different genetic backgrounds. Studies using RNA-seq data from primary monocytes, as a model of an innate immunity, have shown that human populations differ in their transcriptional responses to immune challenges, which are largely controlled by genetics and have been shaped by natural selection (4). In addition, a similar work focusing on alternative splicing characterisation upon immune activation highlights the contribution of positive selection to diversify the splicing landscape of human populations (5). Moreover, additional works using single-cell RNA-seq indicate that most of the ancestry effects on the immune response are cell type specific, exceptuating interferon (IFN) response which is strongly correlated with European ancestry after infection with influenza A virus (Figure 1) (6). Also in line with previous evidence, it has been seen that eQTLs explains > 50% of population differences in response to infection, stressing the key role played by genetics in shaping population differences in immune responses (6). This evidence suggests that genetic ancestry is a main driver of inter-individual differences in response to infection. In turn, these findings highlight the importance of studying the effect of human population genetic variation over disease and disease response for developing effective treatments, and in order to lay the foundations for the establishment of personalized medicine. Moreover, the characterisation of the transcriptome differences derived from human genetic variation can provide further insights into the evolution of human populations

    Interpolación espacial de la temperatura mínima diaria mediante Krigeado universal

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    Ponencia presentada en: XXXIII Jornadas Científicas de la AME y el XIV Encuentro Hispano Luso de Meteorología celebrado en Oviedo, del 7 al 9 de abril de 2014

    Clasificación climática de Thornthwaite para España obtenida mediante técnicas SIG

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    Ponencia presentada en: XXIX Jornadas Científicas de la AME y el VII Encuentro Hispano Luso de Meteorología celebrado en Pamplona, del 24 al 26 de abril de 2006

    Variabilidad de los climas de Köppen en la España peninsular y Baleares en el periodo 1951-2010

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    Ponencia presentada en: XXXII Jornadas Científicas de la AME y el XIII Encuentro Hispano Luso de Meteorología celebrado en Alcobendas (Madrid), del 28 al 30 de mayo de 2012

    Características climáticas 1981-2010

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    Presentación realizada en: Jornada sobre fenología y cambio climático, celebrada el 26 de febrero de 2019 en la sede central de AEMET en Madrid. En dicha Jornada tuvo lugar la presentacion del libro "Selección de especies de interés fenológico en la península ibérica e islas Baleares" publicado por AEMET

    La influencia del tiempo en la pesca de la trucha

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    Abordaje fisioterápico en el tratamiento de la esclerosis lateral amiotrófica: Una revisión sistemática

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    Introducción: La Esclerosis Lateral Amiotrófica (ELA) es una enfermedad neuromuscular degenerativa, caracterizada por la degeneración de las neuronas motoras, resultando en una disfunción de los músculos somáticos. La fisioterapia puede ser una herramienta eficaz para enlentecer el deterioro de la función física en estos pacientes. Sin embargo, no hay mucha evidencia que marque que un tratamiento fisioterápico sea mejor que otro, aunque se ha observado que unas modalidades parecen presentar mejores efectos que otras. Por ello, se ve necesario realizar un análisis de la literatura actual para estudiar si de verdad son útiles y eficaces, comprobándose que los resultados obtenidos sean significativos y extrapolables a la población diana. Objetivos: Determinar cómo afecta el tratamiento fisioterápico en pacientes con ELA, específicamente en los ámbitos del ejercicio terapéutico, la fisioterapia respiratoria y las nuevas tecnologías (robótica y realidad virtual). Metodología: Se realizó una revisión sistemática en ‘PubMed’, ‘Scopus’ y ‘PEDro’. Del total de artículos encontrados, y tras analizar los criterios de inclusión y exclusión, se seleccionaron un total de 10 artículos. Su calidad metodológica fue evaluada con la escala PEDro. Resultados: La mayoría de los estudios analizados muestran resultados con diferencias estadísticamente significativas; tratándose de ocho ensayos clínicos, un informe de un caso y un protocolo de actuación. Conclusiones: La fisioterapia ha demostrado conseguir buenos resultados en el tratamiento de la ELA, especialmente el ejercicio terapéutico y las nuevas tecnologías, no obteniendo los efectos esperados en cuanto a la fisioterapia respiratoria.Introduction: Amyotrophic Lateral Sclerosis (ALS) is a degenerative neuromuscular disease, characterised by degeneration of motor neurons, resulting in somatic muscle dysfunction. Physiotherapy can be an effective tool to slow the deterioration of physical function in these patients. However, there is not much evidence that one physiotherapy treatment is better than another, although it has been observed that some modalities seem to have better effects than others. Therefore, it is necessary to carry out an analysis of the current literature to study whether they are really useful and effective, verifying that the results obtained are significant and can be extrapolated to the target population. Objectives: To determine how physiotherapy treatment affects ALS patients, specifically in the areas of therapeutic exercise, respiratory physiotherapy and new technologies (such as robotics and virtual reality). Methodology: A systematic review was carried out in ‘PubMed’, ‘Scopus’ and ‘PEDro’. From the total number of articles found, and after analysing the inclusion and exclusion criteria, a total of 10 articles were selected. Their methodological quality was assessed using the PEDro scale. Results: Most of the studies analysed show results with statistically significant differences; including eight clinical trials, one case report and one action protocol. Conclusion: Physiotherapy has been shown to achieve good results in the treatment of ALS, especially therapeutic exercise and new technologies, but has not achieved the expected effects in respiratory physiotherapy

    Sweet Cherry Byproducts Processed by Green Extraction Techniques as a Source of Bioactive Compounds with Antiaging Properties

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    Authors thank GRAFOR BIOTECH S.L. by its support to the project.In the cosmetic industry, there is a continuous demand for new and innovative ingredients for product development. In the context of continual renovation, both cosmetic companies and customers are particularly interested in compounds derived from natural sources due to their multiple benefits. In this study, novel and green-extractive techniques (pressurized solvent, supercritical CO2, and subcritical water extractions) were used to obtain three new extracts from sweet cherry stems, a byproduct generated by the food industry. The extracts were characterized by high-performance liquid chromatography coupled to quadrupole-time-of-flight mass spectrometry (HPLC-ESI-QTOF-MS), and 57 compounds, mainly flavonoids but also organic and phenolic acids, fatty acids, and terpenes, were identified. After analytical characterization, a multistep screening approach, including antioxidant, enzymatic, and photoprotective cellular studies, was used to select the best extract according to its benefits of interest to the cosmetics industry. The extract obtained with supercritical CO2 presented the best characteristics, including a wide antioxidant capacity, especially against lipid peroxyl and •OH free radicals, as well as relevant photoprotective action and antiaging properties, making it a potential new ingredient for consideration in the development of new cosmetics.This research was funded by projects RTI2018-096724-B-C21 and 2018-096724-B-C22 from the Spanish Ministry of Science, Innovation and Universities; APOSTD/2018/097 fellowship from Generalitat Valenciana to M.H-.L. and CIBER (CB12/03/30038, Fisiopatología de la Obesidad y la Nutrición, CIBERobn)

    Mapping minimum daily temperature in Spain using kriging with external drift

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    Presentación realizada en: 10th EUMETNET Data Management Workshop celebrado en St. Gallen, Suiza, del 28 al 30 de octubre de 2015.The spatial interpolation of daily temperature is often a complex process compared to the interpolation of monthly or annual data due to the necessity of dealing with local phenomenons, such as inversions, that frequently affect the daily temperatures, especially in mountainous regions. The objective of this study is to describe the methodology that it is being used in the Spanish Meteorological Agency for obtaining gridded fields of daily minimum temperature using a universal kriging method with with the altitude and the distance to the coast as an external drift. In this method, the vertical temperature gradient can vary from one point to another in the study region, so that temperature inversion effects can be properly considered in the interpolation process. A validation process is shown, including a comparison with other typical interpolation methods: regression kriging, ordinary kriging and inverse distance weighted. Finally, some examples of maps obtained by this method are shown, including several products generated for agroclimatological purposes by combining daily gridded maps, such as average number of frost days, mean first and last freezing date and average chill hours below different temperature thresholds
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