164 research outputs found

    Threshold volatility models: forecasting performance

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    The aim of this paper is to compare the forecasting performance of competing volatility models, in order to capture the asymmetric effect in the volatility. We focus on examining the relative out-of-sample forecasting ability of the models (SETAR-TGARCH and SETAR-THSV), which contain the introduction of regimes based on thresholds in the mean equation and volatility equation, compared to the GARCH model and SV model. For each model, we consider two cases: Gaussian and t-Student measurement noise distribution. An important problem when evaluating the predictive ability of volatility models is that the “true” underlying process is not observable and thus a proxy must be defined for the unobservable volatility. To attain our proposal, the proxy volatility measure and the loss function must also be decided to ensure a correct ranking of models. Our empirical application suggests the following results: when time series include leverage effects on the mean, the introduction of threshold in the mean and variance equations produces more accurate predictions. If the leverage in the mean is not important, then the SVt is flexible enough to beat the threshold models.Peer ReviewedPostprint (published version

    Discrete Cosine Transform for the Analysis of Essential Tremor

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    Essential tremor (ET) is the most common movement disorder. In fact, its prevalence is about 20 times higher than that of Parkinson's disease. In addition, studies have shown that a high percentage of cases, between 50 and 70%, are estimated to be of genetic origin. The gold standard test for diagnosis, monitoring and to differentiate between both pathologies is based on the drawing of the Archimedes' spiral. Our major challenge is to develop the simplest system able to correctly classify Archimedes' spirals, therefore we will exclusively use the information of the x and y coordinates. This is the minimum information provided by any digitizing device. We explore the use of features from drawings related to the Discrete Cosine Transform as part of a wider cross-study for the diagnosis of essential tremor held at Biodonostia. We compare the performance of these features against other classic and already analyzed ones. We outperform previous results using a very simple system and a reduced set of features. Because the system is simple, it will be possible to implement it in a portable device (microcontroller), which will receive the x and y coordinates and will issue the classification result. This can be done in real time, and therefore without needing any extra job from the medical team. In future works these new drawing-biomarkers will be integrated with the ones obtained in the previous Biodonostia study. Undoubtedly, the use of this technology and user-friendly tools based on indirect measures could provide remarkable social and economic benefits.We thank the Ministry of Business and Knowledge of the Government of Catalonia that partially supported this study through the Industrial Doctorates Plan to IA-E. We also thank the grant of Domus Vi Foundation "Kms para recordar," the programs of Basque Government, ETORTEK and IT115-16, the Gipuzkoa Goverment, Red Guipuzcoana de Ciencia, Tecnologia e Innovacion, and the Ministry of Science and Innovation for the TEC2016-77791-C04-R grant, which partially supported the study. Finally we would like to thank reviewers for their detailed and helpful comments to the manuscript

    Role of Myotonic Dystrophy Protein Kinase (DMPK) in Glucose Homeostasis and Muscle Insulin Action

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    Myotonic dystrophy 1 (DM1) is caused by a CTG expansion in the 3′-unstranslated region of the DMPK gene, which encodes a serine/threonine protein kinase. One of the common clinical features of DM1 patients is insulin resistance, which has been associated with a pathogenic effect of the repeat expansions. Here we show that DMPK itself is a positive modulator of insulin action. DMPK-deficient (dmpk−/−) mice exhibit impaired insulin signaling in muscle tissues but not in adipocytes and liver, tissues in which DMPK is not expressed. Dmpk−/− mice display metabolic derangements such as abnormal glucose tolerance, reduced glucose uptake and impaired insulin-dependent GLUT4 trafficking in muscle. Using DMPK mutants, we show that DMPK is required for a correct intracellular trafficking of insulin and IGF-1 receptors, providing a mechanism to explain the molecular and metabolic phenotype of dmpk−/− mice. Taken together, these findings indicate that reduced DMPK expression may directly influence the onset of insulin-resistance in DM1 patients and point to dmpk as a new candidate gene for susceptibility to type 2-diabetes

    Drosophila Interspecific Hybridization Causes a Deregulation of the piRNA Pathway Genes

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    Almost all eukaryotes have transposable elements (TEs) against which they have developed defense mechanisms. In the Drosophila germline, the main transposable element (TE) regulation pathway is mediated by specific Piwi-interacting small RNAs (piRNAs). Nonetheless, for unknown reasons, TEs sometimes escape cellular control during interspecific hybridization processes. Because the piRNA pathway genes are involved in piRNA biogenesis and TE control, we sequenced and characterized nine key genes from this pathway in Drosophila buzzatii and Drosophila koepferae species and studied their expression pattern in ovaries of both species and their F1 hybrids. We found that gene structure is, in general, maintained between both species and that two genes- armitage and aubergine- are under positive selection. Three genes- krimper, methyltransferase 2, and zucchini -displayed higher expression values in hybrids than both parental species, while others had RNA levels similar to the parental species with the highest expression. This suggests that the overexpression of some piRNA pathway genes can be a primary response to hybrid stress. Therefore, these results reinforce the hypothesis that TE deregulation may be due to the protein incompatibility caused by the rapid evolution of these genes, leading to a TE silencing failure, rather than to an underexpression of piRNA pathway genes

    The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection

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    The causative mutation responsible for limb girdle muscular dystrophy 1F (LGMD1F) is one heterozygous single nucleotide deletion in the stop codon of the nuclear import factor Transportin 3 gene (TNPO3). This mutation causes a carboxy-terminal extension of 15 amino acids, producing a protein of unknown function (TNPO3_mut) that is co-expressed with wild-type TNPO3 (TNPO3_wt). TNPO3 has been involved in the nuclear transport of serine/arginine-rich proteins such as splicing factors and also in HIV-1 infection through interaction with the viral integrase and capsid. We analyzed the effect of TNPO3_mut on HIV-1 infection using PBMCs from patients with LGMD1F infected ex vivo. HIV-1 infection was drastically impaired in these cells and viral integration was reduced 16-fold. No significant effects on viral reverse transcription and episomal 2-LTR circles were observed suggesting that the integration of HIV-1 genome was restricted. This is the second genetic defect described after CCR5Δ32 that shows strong resistance against HIV-1 infection.This work was supported by crowfunding site PRECIPITA from FECYT, the MERCKSALUD Foundation, the Spanish Ministry of Science (FIS PI12/00969; PI16CIII/00034; SAF2016-78480-R); the Spanish AIDS Research Network RD16CIII/0002/0001 that is included in Acción Estratégica en Salud, Plan Nacional de Investigación Científica, Desarrollo e Innovación Tecnológica 2016-2020, Instituto de Salud Carlos III, European Region Development Fund (FEDER); CIBERer-ISCIII (FIS PI16/00316) co-financed by the European Regional Development Founds (FEDER), IIS La Fe (2016-0388; 2018-0200), and Fundación Isabel Gemio (http://www.fundacionisabelgemio.com). The work of Dra. Sara Rodríguez-Mora is supported by the Asociación Conquistando Escalones, funded by Spanish LGMD1F patients and Sara Borrell grant from Instituto de Salud Carlos III. The work of Dra. María Rosa López-Huertas is financed by ISCIII-Subdirección General de Evaluación and European Funding for Regional Development (FEDER) and by Spanish Ministry of Economy and Competitiveness (PIE13/00040). The work of Elena Mateos is supported by the Spanish Ministry of Economy and Competitiveness SAF2016-78480-R. The work of Lorena Vigón is supported by a pre-doctoral grant from Instituto de Salud Carlos III. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.S

    Indicadores edáficos de calidad en suelos con y sin laboreo en cultivo de batata con distintos antecesores

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    Fueron delimitadas dos áreas de manejo de suelos en INTA IPAF NEA, con distintas historias de laboreo de suelo e iguales cultivos de cobertura antecesora. Luego fue diseñado un experimento factorial anidado en bloques, que consideró los factores laboreo y antecesor como fuentes de variación. El área “sin laboreo” tuvo con anterioridad cuatro años de cultivo de Mucuna cinza, en forma continua con resiembra. El área “con laboreo” tuvo cultivos de algodón, maní, maíz, con sus respectivas labranzas. Una vez delineado el experimento, el cultivo de batata fue trasplantado en 2011, 2012, 2013 de forma convencional en ambas áreas, sobre doce tratamientos antecesores. En cada uno fueron registradas las variables edáficas, físicas, químicas, biológicas: densidad aparente (DAP), infiltración básica (IB), porosidad total (PT), distribución de macroporos (MP), mesoporos (MSP), microporos (MCP), estabilidad de agregados (EA), pH, conductividad eléctrica (CE), carbono orgánico total (COT), nitrógeno total (NT), fósforo extractable (Pe), calcio (Ca), magnesio (Mg), potasio (K), sodio (Na), capacidad de intercambio catiónico (CIC), respiración (AB), carbono en la biomasa microbiana (CBM), coeficientes metabólicos (qCO2), fluoresceína difosfato (FDA) , fosfatasa ácida (Pasa), glomalinas (PROT) e hifas (H) arbúsculos (A) y vesículas (V) de micorrizas. En suelos sin laboreo hubo interacción significativa con (AB) y (Pasa). La (AB) presentó niveles más altos en suelos sin laboreo, difiriendo a favor en los tratamientos de cobertura precedente de Sorgo o Batata consociada + Canavalia, con relación a Maíz, Mucuna, Canavalia y barbechos. La (Pasa) presentó niveles más altos en los tratamientos Maíz, con relación a tratamientos Canavalia y Batata consociada + Canavalia más bajos. El (K) presento niveles más altos en los tratamientos antecesores Maíz Blanco Duro y Azteca, con relación a Avena y monocultivo de BatataTwo soil management areas differing in tilling history but with the same previous cover crops were established at INTA IPAF NEA. A factorial experiment with two factors, tilling and previous crop, was set up using a nested randomized block design. The “nontilled” area had Mucuna cinza in the four previous years in a continuous crop where reseeding occurred. The tilled area had been cropped with cotton, peanut, and maize. Sweetpotato was transplanted in 2011, 2012, and 2013 on twelve previous crops treatments. The following edaphic, physical, chemical, and biological variables were recorded: apparent density (DAP), basic infiltration (IB), total porosity (PT), distribution of macro pores (DM), medium size pores (MSP) and micro pores (MCP), aggregate stability (EA), pH, electric conductivity (CE), total organic carbon (COT), total nitrogen(NT), extractable phosphorus (Pe), calcium (Ca), magnesium (Mg), potassium (K), sodium (Na),cationic exchangeable capacity (CIC), respiration (AB), microbial biomass carbon (CBM), metabolic coefficients (qCO2), fluorescein diphosphate (FDA) , acid phosphatase (Pasa), glomalins (PROT) and hiphae (H), arbuscules (A), and vesicles (V) of mycorrhizae. In non-tillage soils there was a significant interaction for AB and Pasa. In not tilled soils, AB was higher when the previous cover crop was sorghum or sweetpotato+Canavalia association as compared to maize, Mucuna, Canavalia and fallow; while Pasa was higher in treatments with maize as compared with Canavalia and sweetpotato associated with Canavalia. Potassium showed the highest values when the previous crop was maize Blanco Duro and Azteca as compared to oats or mono cropped sweetpotato.EEA San PedroFil: Ullé, Jorge Angel. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria San Pedro; ArgentinaFil: Espindola, José Antonio. EMBRAPA Agrobiologia; BrasilFil: Martínez, Fortunato. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Investigación y Desarrollo Tecnológico para la Agricultura Familiar Region NEA; ArgentinaFil: Martí, Héctor Rubén. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria San Pedro; ArgentinaFil: Faggioli, Valeria Soledad. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Marcos Juarez; ArgentinaFil: Ortega y Villasana, Pilar. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Investigación Investigación y Desarrollo Tecnológico para la Agricultura Familiar Región NEA; Argentin

    Solar decathlon latino América y Caribe. Cali 2015 (Colombia), Proyecto AURA

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    Solar Decathlon Latin America and the Caribbean 2015 will take place in the city of Cali, Colombia. Coming from North America and after the European and Asian editions, now the competition for sustainable housing arrives Latin America. ‘Solar Decathlon’ is an international competition inviting students around the world from universities specialized in Engineering, Architecture, Urban Design, Renewable Energies and related careers to participate on creating, building and operating Self-sustaining social solutions, run by solar power. In addition to the founding principles of the original Solar Decathlon, the SD LAC2015 Organization has decided to focus on the following four components, which will be fundamental to the proposals in order to adapt them to tropical climate and cultural conditions. The components are: 1. Social Housing: As social inequality is one of the most pressing issues in Latin America and the Caribbean, the Solar Decathlon should strive to prove that sustainable housing based on alternative energy sources can be accessible to the population at large, prioritizing dense urban areas where most of the population is living. 2. Density: Nowadays, most of the population lives in cities where building areas are increasingly scarce and expensive. Moreover, denser housing solutions can help minimize the environmental impact. Consequently, the SD LAC2015 will favour projects that optimize the architectural and urban footprint. 3. Rational Use of Environmental Resources: The vast majority of the Latin American population lives in the tropics, enjoying high solar radiation all year long and exceptional availability of water sources. 4. Regional Relevance: The SD LAC2015 embraces the goal of developing and promoting ideas, capacities and technologies that can be implemented for the benefit of the inhabitants of the LAC region. The actual construction of prototypes will take place in the ‘Universidad del Valle’ campus. The competition combines both theoretical and practical knowledge considering projects must be built on real scale and be tested on 10 different contests. The hisCali team, from the Sevilla University, will take part in competition together with the ‘University of Santiago de Cali’, and with the support of the IUACC and the official masters of Innovation and Sustainability, both from the Sevilla University.El Decatlón Solar para América Latina y el Caribe - SD LAC2015 – se llevará a cabo en la ciudad de Cali, Colombia, convirtiéndose en la primera sede de esta versión del concurso, tras la primigenia norteamericana y las sucesivas versiones europeas y asiáticas. "Solar Decathlon" es un concurso internacional que invita a los estudiantes de las universidades especializadas en arquitectura, diseño urbano, energías renovables y carreras afines a que participen en el diseño, la construcción y la operación de soluciones de vivienda auto-sostenibles y energéticamente eficientes para contribuir a la mitigación del cambio climático a través de la implantación de tecnologías limpias. Los proyectos que se presentan a este concurso deben seguir un esquema reglamentario específico que se adapta a las condiciones climáticas y culturales de la región presentando propuestas de viviendas sociales como soluciones de impacto positivo para la región. 1. Vivienda Social: Debido a las circunstancias de desigualdad social y económica que enfrenta la región de América Latina y del Caribe, SDLAC2015 se presenta como un espacio dinámico de elaboración de propuestas y construcción de soluciones reales que impacten de manera positiva a la comunidad. 2. Densidad: Como consecuencia del desplazamiento masivo de la población hacia la zona urbana, una de las características de diseño y distribución que debe tenerse en cuenta para las construcciones del futuro es la densidad. 3. Uso Racional de Recursos del Medio Ambiente: La mayoría de la población de América Latina y del Caribe vive en la zona tropical, enfrentando emisiones de radiación solar a lo largo del año y una disponibilidad excepcional de las fuentes de agua. 4. Relevancia Regional: La meta será desarrollar ideas y tecnologías que beneficien a los habitantes de la región. El campus de la Universidad del Valle, en la ciudad de Cali, Colombia, es el escenario escogido para llevar a cabo la construcción real de los prototipos diseñados por cada equipo participante que serán evaluados en 10 pruebas diferentes a lo largo de la competencia. A esta convocatoria de Solar Decathlon Latino América y Caribe 2015, se presenta el equipo hísCali, con profesores de áreas de conocimiento de la Universidad de Sevilla tales como Construcción, Urbanismo, Proyectos, Estructuras, Derecho, Economía, Matemática Aplicada y Bellas Artes, junto con la Universidad de Santiago de Cali y con el apoyo del IUACC y los másteres de Innovación y de Sostenibilidad, ambos asimismo de la Universidad de Sevilla

    Design of the nutritional therapy for overweight and obese Spanish adolescents conducted by registered dieticians: the EVASYON study

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    Background: Dietary treatment for obese adolescents should aim to ensure adequate growth and development, by reducing excessive fat mass accumulation, avoiding loss of lean body mass, improving well-being and selfesteem and preventing cyclical weight regain. The aim of this article is to describe the dietary intervention design and the methods used to evaluate nutritional knowledge and behavior in the EVASYON study (Development, implementation and evaluation of the efficacy of a therapeutic programme for overweight/obese adolescents). Methods/design: EVASYON is a multi-centre study conducted in 5 Spanish hospital settings (Granada, Madrid, Pamplona, Santander and Zaragoza), where 204 overweight/obese Spanish adolescents were treated in groups of 9 to 11 subjects over 20 visits. The study was implemented in two stages: an intensive, calorie-restricted period for the first 9 weeks, and an extensive body-weight follow-up period for the last 11 months. A moderate energy intake restriction was applied in the intensive period according to the degree of obesity, on the basis of a balanced diet supplying 50-55% of daily energy as carbohydrates; 30-35% as fats and 10-15% as proteins. In the intensive period, adolescents were prescribed both a fixed full-day meal plan for the first three weeks and a full day meal plan with different food-choices for 6 weeks. Later, adolescents received a flexible meal plan based on food exchanges for the follow-up period until the end of the trial. Data on food intake, dietary and meal-related habits and behavior were collected by means of dietary questionnaires. To analyse nutritional knowledge, adolescents were examined regarding nutrient concepts and food items for a healthy diet with the appropriate tools. Participants were given nutritional information with complementary teaching material, which was available on the EVASYON website (www.estudioevasyon.com). Discussion: The dietary intervention of the EVASYON programme with a moderate calorie restriction for a limi - ted period of time could be a good strategy in treating overweight and obese adolescents and that will be tested further. Moreover, combining fixed plan with free-choice menus may help adolescents and their families to make right decisions for every day meals

    Molecular characterization of new FBXL4 mutations in patients with mtDNA depletion syndrome

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    Encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome 13 (MTDPS13) is a rare genetic disorder caused by defects in F-box leucine-rich repeat protein 4 (FBXL4). Although FBXL4 is essential for the bioenergetic homeostasis of the cell, the precise role of the protein remains unknown. In this study, we report two cases of unrelated patients presenting in the neonatal period with hyperlactacidemia and generalized hypotonia. Severe mtDNA depletion was detected in muscle biopsy in both patients. Genetic analysis showed one patient as having in compound heterozygosis a splice site variant c.858+5G>C and a missense variant c.1510T>C (p.Cys504Arg) in FBXL4. The second patient harbored a frameshift novel variant c.851delC (p.Pro284LeufsTer7) in homozygosis. To validate the pathogenicity of these variants, molecular and biochemical analyses were performed using skin-derived fibroblasts. We observed that the mtDNA depletion was less severe in fibroblasts than in muscle. Interestingly, the cells harboring a nonsense variant in homozygosis showed normal mtDNA copy number. Both patient fibroblasts, however, demonstrated reduced mitochondrial transcript quantity leading to diminished steady state levels of respiratory complex subunits, decreased respiratory complex IV (CIV) activity, and finally, low mitochondrial ATP levels. Both patients also revealed citrate synthase deficiency. Genetic complementation assays established that the deficient phenotype was rescued by the canonical version of FBXL4, confirming the pathological nature of the variants. Further analysis of fibroblasts allowed to establish that increased mitochondrial mass, mitochondrial fragmentation, and augmented autophagy are associated with FBXL4 deficiency in cells, but are probably secondary to a primary metabolic defect affecting oxidative phosphorylation
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