37 research outputs found

    Genotypic variability in radial resistance to water flow in olive roots and its response to temperature variations

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    As radial root resistance (Rp) represents one of the key components of the soil–plant–atmosphere continuum resistance catena modulating water transport, understanding its control is essential for physiologists, modelers and breeders. Reports of Rp, however, are still scarce and scattered in the scientific literature. In this study, we assessed genetic variability in Rp and its dependence on temperature in five widely used olive cultivars. In a first experiment, cultivar differences in Rp at 25 °C were evaluated from flow–pressure measurements in excised roots and subsequent analysis of root traits. In a second experiment, similar determinations were performed continually over a 5-h period in which temperature was gradually increased from 12 to 32 °C, enabling the assessment of Rp response to changing temperature. Despite some variability, our results did not show statistical differences in Rp among cultivars in the first experiment. In the second, cultivar differences in Rp were not significant at 12 °C, but they became so as temperature increased. Furthermore, the changes in Rp between 12 and 32 °C were higher than those expected by the temperature-driven decrease in water viscosity, with the degree of that change differing among cultivars. Also, Rp at 25 °C reached momentarily in the second experiment was consistently higher than in the first at that same, but fixed, temperature. Overall, our results suggest that there is limited variability in Rp among the studied cultivars when plants have been exposed to a given temperature for sufficient time. Temperature-induced variation in Rp might thus be partly explained by changes in membrane permeability that occur slowly, which explains why our values at 25 °C differed between experiments. The observed cultivar differences in Rp with warming also indicate faster acclimation of Rp to temperature changes in some cultivars than others.info:eu-repo/semantics/acceptedVersio

    Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets

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    Importance Substantial genome-wide association study (GWAS) work in Parkinson disease (PD) has led to the discovery of an increasing number of loci shown reliably to be associated with increased risk of disease. Improved understanding of the underlying genes and mechanisms at these loci will be key to understanding the pathogenesis of PD. / Objective To investigate what genes and genomic processes underlie the risk of sporadic PD. / Design and Setting This genetic association study used the bioinformatic tools Coloc and transcriptome-wide association study (TWAS) to integrate PD case-control GWAS data published in 2017 with expression data (from Braineac, the Genotype-Tissue Expression [GTEx], and CommonMind) and methylation data (derived from UK Parkinson brain samples) to uncover putative gene expression and splicing mechanisms associated with PD GWAS signals. Candidate genes were further characterized using cell-type specificity, weighted gene coexpression networks, and weighted protein-protein interaction networks. / Main Outcomes and Measures It was hypothesized a priori that some genes underlying PD loci would alter PD risk through changes to expression, splicing, or methylation. Candidate genes are presented whose change in expression, splicing, or methylation are associated with risk of PD as well as the functional pathways and cell types in which these genes have an important role. / Results Gene-level analysis of expression revealed 5 genes (WDR6 [OMIM 606031], CD38 [OMIM 107270], GPNMB [OMIM 604368], RAB29 [OMIM 603949], and TMEM163 [OMIM 618978]) that replicated using both Coloc and TWAS analyses in both the GTEx and Braineac expression data sets. A further 6 genes (ZRANB3 [OMIM 615655], PCGF3 [OMIM 617543], NEK1 [OMIM 604588], NUPL2 [NCBI 11097], GALC [OMIM 606890], and CTSB [OMIM 116810]) showed evidence of disease-associated splicing effects. Cell-type specificity analysis revealed that gene expression was overall more prevalent in glial cell types compared with neurons. The weighted gene coexpression performed on the GTEx data set showed that NUPL2 is a key gene in 3 modules implicated in catabolic processes associated with protein ubiquitination and in the ubiquitin-dependent protein catabolic process in the nucleus accumbens, caudate, and putamen. TMEM163 and ZRANB3 were both important in modules in the frontal cortex and caudate, respectively, indicating regulation of signaling and cell communication. Protein interactor analysis and simulations using random networks demonstrated that the candidate genes interact significantly more with known mendelian PD and parkinsonism proteins than would be expected by chance. / Conclusions and Relevance Together, these results suggest that several candidate genes and pathways are associated with the findings observed in PD GWAS studies

    Identification of sixteen novel candidate genes for late onset Parkinson’s disease

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    Background Parkinson’s disease (PD) is a neurodegenerative movement disorder affecting 1–5% of the general population for which neither effective cure nor early diagnostic tools are available that could tackle the pathology in the early phase. Here we report a multi-stage procedure to identify candidate genes likely involved in the etiopathogenesis of PD. Methods The study includes a discovery stage based on the analysis of whole exome data from 26 dominant late onset PD families, a validation analysis performed on 1542 independent PD patients and 706 controls from different cohorts and the assessment of polygenic variants load in the Italian cohort (394 unrelated patients and 203 controls). Results Family-based approach identified 28 disrupting variants in 26 candidate genes for PD including PARK2, PINK1, DJ-1(PARK7), LRRK2, HTRA2, FBXO7, EIF4G1, DNAJC6, DNAJC13, SNCAIP, AIMP2, CHMP1A, GIPC1, HMOX2, HSPA8, IMMT, KIF21B, KIF24, MAN2C1, RHOT2, SLC25A39, SPTBN1, TMEM175, TOMM22, TVP23A and ZSCAN21. Sixteen of them have not been associated to PD before, were expressed in mesencephalon and were involved in pathways potentially deregulated in PD. Mutation analysis in independent cohorts disclosed a significant excess of highly deleterious variants in cases (p = 0.0001), supporting their role in PD. Moreover, we demonstrated that the co-inheritance of multiple rare variants (≥ 2) in the 26 genes may predict PD occurrence in about 20% of patients, both familial and sporadic cases, with high specificity (> 93%; p = 4.4 × 10− 5). Moreover, our data highlight the fact that the genetic landmarks of late onset PD does not systematically differ between sporadic and familial forms, especially in the case of small nuclear families and underline the importance of rare variants in the genetics of sporadic PD. Furthermore, patients carrying multiple rare variants showed higher risk of manifesting dyskinesia induced by levodopa treatment. Conclusions Besides confirming the extreme genetic heterogeneity of PD, these data provide novel insights into the genetic of the disease and may be relevant for its prediction, diagnosis and treatment

    Nutrición parenteral domiciliaria en España 2018. Informe del Grupo de Nutrición Artificial Domiciliaria y Ambulatoria NADYA

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    Objetivo: comunicar los datos de nutrición parenteral domiciliaria (NPD) obtenidos del registro del grupo NADYA-SENPE (www.nadya-senpe.com) del año 2018. Material y métodos: análisis descriptivo de los datos recogidos de pacientes adultos y pediátricos con NPD en el registro NADYA-SENPE del 1 de enero al 31 de diciembre de 2018. Resultados: se registraron 278 pacientes (54, 7% mujeres), 23 niños y 255 adultos, procedentes de 45 hospitales españoles, lo que representa una tasa de prevalencia de 5, 95 pacientes/millón de habitantes/año 2018. El diagnóstico más frecuente en adultos fue “oncológico paliativo” (22, 0%), seguido de “otros”. En niños fue la enfermedad de Hirschsprung junto con la enterocolitis necrotizante, con cuatro casos (17, 4%). El primer motivo de indicación fue síndrome de intestino corto tanto en niños (60, 9%) como en adultos (35, 7%). El tipo de catéter más utilizado fue el tunelizado tanto en niños (81, 0%) como en adultos (41, 1%). Finalizaron 75 episodios, la causa más frecuente fue el fallecimiento (52, 0%) y el paso a vía oral (33, 3%). Conclusiones: el número de centros y profesionales colaboradores en el registro de pacientes que reciben NPD se mantiene estable, así como las principales indicaciones y los motivos de finalización de la NPD. Aim: To communicate home parenteral nutrition (HPN) data obtained from the HPN registry of the NADYA-SENPE group (www.nadya-senpe.  com) for the year 2018. Material and methods: Descriptive analysis of the data collected from adult and pediatric patients with HPN in the NADYA-SENPE group registry from January 1st, 2018 to December 31st, 2018.  Results: There were 278 patients from 45 Spanish hospitals (54.7% women), 23 children and 255 adults, which represent a prevalence rate of 5.95 patients/million inhabitants/year 2018. The most frequent diagnosis in adults was “palliative cancer” (22.0%), followed by “others”. In children it was Hirschsprung’s disease together with necrotizing enterocolitis, with four cases (17.4%). The first indication was short bowel syndrome in both children (60.9%) and adults (35.7%). The most frequently used type of catheter was tunneled in both children (81.0%) and adults (41.1%). Ending 75 episodes, the most frequent cause was death (52.0%) and change to oral feeding (33.3%). Conclusions: The number of centers and collaborating professionals in the registry of patients receiving HPN remains stable, as well as the main indications and reasons for termination of HPN

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

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    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)

    Preliminary studies of the electrochemical performance of Pt/X@MoO 3/C (X = Mo2C, MoO2, Mo0) catalysts for the anode of a DMFC: Influence of the Pt loading and Mo-phase

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    The present study is focused on the influence of Pt loading on the reactivity of catalysts prepared supporting the metal on novel core–shell molybdenum substrates. The electrocatalytic activity and stability of nine Pt/X@MoO3/C catalysts (where X denotes the nature of Mo-phases in the core of the core–shell Mo-particle: Mo2C, MoO2 and/or Mo0) with three Pt loading (5, 20 and 30 wt% Pt) were tested for carbon monoxide and methanol electro–oxidation reactions. For both reactions, Pt loading appears to be a key factor, obtaining the best performance for those catalysts with higher Pt content. Furthermore, it is observed that the nature of X@MoO3/C samples plays an important role as promoter for CO and methanol oxidation. MoO3-shell catalyzes and homogenizes the potentiodynamic responses, while the reduced Mo-phase in the core produces an electronic effect which determines the catalytic activity and stability during the electro-oxidation processes investigated.The authors wish to thank the Spanish Ministry of Economy and Competitiveness (SMEC) for financial support for the Project CTQ2011-28913-C03-02. RGL acknowledges the SMEC for her contract in the Project ENE2010-21198-C04-01. G. García acknowledges to the European Social Fund and JAE Program (CSIC) for financial support.Peer Reviewe

    Carbon monoxide and methanol oxidations on Pt/X@MoO3/C (X = Mo2C, MoO2, Mo0) electrodes at different temperatures

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    The present study is focused in the use of core–shell molybdenum substrates as supports for Pt electrocatalysts. These substrates are prepared by the carbothermal-reduction method and present a core–shell structure, with a reduced-Mo core (Mo2C, MoO2 and/or Mo0) and a MoO3 shell. Kinetic and mechanistic studies were performed through potentiodynamic and potentiostatic experiments for carbon monoxide and methanol oxidation reactions on Pt/X@MoO3/C (X = Mo2C, MoO2, Mo0) catalysts in an intermediate temperature range (20 < T < 70 °C). Results reveal the promoter effect and the great stability of Mo-carbide based substrates for both reactions in the temperature range studied. Carbon monoxide and methanol oxidation on Pt/X@MoO3/C are enhanced by a facile oxygenated species formation, better dispersion of the active phase and electronic effects. It is concluded that the best catalyst performance during the methanol oxidation reaction was obtained with the substrate that contains only Mo2C-phase in its core.The authors wish to thank Spanish Ministry of Economy and Competitiveness (SMEC) for the financial support to project CTQ2011-28913-C02-02. RGL acknowledges the SMEC for her contract in the Project ENE2010-21198-C04-01. GG acknowledges to the JAE program (CSIC) for financial support. Also the use of General Research Services at the University of La Laguna (SEGAI-ULL) is acknowledged.Peer Reviewe

    EL ROL DE LA FILIAL PEDAGÓGICA MUNICIPAL SAN LUIS EN LA POTENCIACIÓN DE LA DIMENSIÓN AMBIENTAL

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    En Cuba existe una estrategia ambiental dirigida a disminuir el efecto de degradación de los suelos y el cambio climático, implementar de forma generalizada la agricultura sostenible, eliminar las manifestaciones de vertimiento inadecuado de residuos líquidos y sólidos sin un accionar científico que permita su re-uso y tratamiento, controlar la contaminación ambiental, la desertificación de los suelos, la deforestación, la pérdida de la biodiversidad, mejorar el estado de salud de los habitantes y garantizar una adecuada higiene e integración ecológica. Sin embargo, se requiere de un accionar más creativo, intencionado y dirigido al logro de estos fines, a partir de la educación ambiental de la población en general. Precisamente, este trabajo tiene como objetivo exponer resultados positivos alcanzados a partir de la puesta en práctica de un plan de acción de carácter multidisciplinario, integral y multifactorial cuya esencia radica en concebir a la Filial Pedagógica Universitaria Municipal como el centro dinamizador del trabajo de capacitación y promoción de la educación ambiental en el municipio San Luis. En este sentido, se presentan resultados de investigaciones desarrolladas en este centro conducentes a la formación de los conocimientos, el desarrollo de hábitos, habilidades, convicciones, valores y aptitudes relacionadas con la necesidad de potenciar la educación ambiental, la producción de alimentos y la cultura ambientalista, como la vías de lograr mayor efectividad en el cuidado y protección del medio ambiente y en la búsqueda de soluciones que favorezcan la transformación del mismo en beneficio de la sociedad.educación ambiental, filial pedagógica universitaria municipal, cultura ambientalista, medio ambiente

    Integrated Coastal Management in Cuba: Progress and Challenges in the 2009-2019 Stage

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    Hace casi una década comenzaron esfuerzos regionales conjuntos por sintetizar la situación del Manejo Costero Integrado y las Políticas Públicas en Iberoamérica. Este capítulo pretende analizar, diez años después, cuánto se ha avanzado en Cuba en la implementación de la gestión costera integrada. En Cuba, un archipiélago del Caribe donde todo está estrechamente ligado a su carácter costero y marino, los asuntos de gestión integrada de zonas costeras, han ganado en atención y se encuentran hoy en una máxima prioridad en las políticas y marcos legales del país. El presente reporte pone en evidencia que en esta etapa transcurrida se ha perfeccionado el marco político-normativo, se ha elevado el número de instituciones que se concentran en evaluar temas de gestión costera, y ha crecido el número de proyectos relacionados con esta temática, así como la actividad de formación de postgrados y la educación comunitaria. Para el país han sido muy relevantes la adopción e implementación del Plan Nacional de Desarrollo Económico y Social hasta el 2030 (PNDES, 2030) y Plan de Estado para el Enfrentamiento al Cambio Climático (Tarea Vida). Ambos planes promueven el análisis de los problemas típicos de las zonas costeras, a la vez que se enfocan en la búsqueda de soluciones. Así mismo, este capítulo identifica los nuevos retos de la gestión de la zona costera en Cuba y esboza las posibles nuevas acciones a emprender y los asuntos que requieren análisis y tratamientos más profundos.Regional efforts jointly done for synthesizing the situation about Integrated Coastal Management and Public Politics in Iberoamerica started almost a decade ago. Ten years later, the present Chapter is aimed to analyze advances regarding implementation of integrated coastal management in Cuba. Due to its condition of being a Caribbean archipelago, everything in Cuba is strongly linked to its coastal and marine characteristics; issues about integrated coastal zone management have received greater attention, becoming, at present, an item of maximum priority among the political and legal frameworks of the country. Improvement to the political-normative framework regarding integrated coastal management, increase in the number of institutions devoted to assess themes related to that topic, as well as in the number of projects, activities for Postgraduate formation and communitarian education regarding the topic, are all widely shown in the present Chapter. Approval and implementation of the National Plan for Social and Economic Development up to 2030 (NPSED, 2030), and of the State Plan to face the Climate Change (“Life Task” in Sp. “Tarea Vida”) have been irrelevant for the country. Both Plans are aimed to analyze typical problems of the coastal zone, focusing on the search of solutions. New challenges for coastal zone management in Cuba are also described in the present Chapter, where possibilities of putting into practice new actions, as well as items, which require deeper analysis, are also given

    Growth and water relations of field-grown Valencia orange trees under long-term partial rootzone drying

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    Climate, soil water potential (SWP), leaf relative water content (RWC), stem water potential (WPstem), stomatal conductance (gs), trunk, shoot and fruit growth of 'Valencia' orange trees were monitored during five consecutive seasons (2007â2012) to study water status and growth responses to irrigation placement or volume. 48 adult trees were exposed to conventional irrigation (CI, 100% of crop evapotranspiration on both sides of the rootzone), partial rootzone drying (PRD, 50% of CI water only on one alternated side of the rootzone) and continuous deficit irrigation (DI, 50% of CI water on both sides of the rootzone). Reducing irrigation volumes by 55% (DI) over CI increased leaf water deficit by 27% and reduced 'Valencia' fruit growth by 15% but not shoot or trunk growth. Similar water savings by PRD did not induce significant growth reductions. Differences in fruit growth rates determined 17% yield reduction in DI but not PRD trees. If we consider integrals of data across each season, PRD induced milder soil and leaf water deficit than DI but similar stomatal conductance. Tree daily water consumption (Etree) estimated from daily leaf transpiration was significantly lower in PRD and DI than in CI. Fruit growth efficiency (growth rate per unit Etree) was similar in all irrigation treatments, while shoot growth efficiency was higher in PRD than in CI. In PRD, an increased shoot growth efficiency rather than fruit growth efficiency is most likely due to water and assimilates being diverted from fruit to shoot growth under high VPD conditions. Although these results show good evidence of an irrigation placement effect inducing an advantage of the PRD strategy in 'Valencia' orange in terms of milder soil and leaf water deficit and more sustainable fruit growth compared to DI, PRD did not induce any significant advantage in terms of final yield over a simple reduction of irrigation volumes
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