1,096 research outputs found

    Characterization of a mouse model for Tubular Aggregate Myopathy and development of small molecules

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    Tubular aggregate myopathy (TAM) is one of a cluster of rare genetic diseases, together with Stormorken syndrome and York platelet syndrome (YPS). The aetiology of these diseases is the mutation in one of two key proteins, ORAIi and STIMÍ. Both proteins are the principai protagonists in Store-Operated Calcium Entry (SOC Entry), a mechanism of calcium homeostasis. Up to now, no mouse model has been designed bearing a luminal STIM1 mutation associated with the clinical diagnosis of any of the diseases. A mouse model bearing 11 15F mutation, which is associated with TAM and YPS, is extremely needed, to guarantee the effectiveness of putative treatment in patients bearing luminal STIM1 mutations. This thesis project demonstrates that the KI-STIM" mouse model is valid for both TAM and YPS, confirming at the same time the hypothesis of some authors, who defend that TAM, Stormorken, and YPS are indeed the spectra of the same disease whose symptoms differences are base in the position and effect of the point mutation

    Specifications of the contents of the European Guide of Diagnosis and Evaluation.

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    International audienceThis communication evokes the coordination activities that were made within the WP6C group that is in charge of the definition of the CATALYSE toolkit contents. The diagnosis and evaluation guides that have been defined and used by the present CAENTI partners since 1994 were harmonized. The latter wade also made so as to respect the European standards for the concerned data and to facilitate its confrontation with the available indicators at the European level. A series of specifications was defined concerning the functions of this guide (communication instrument/data processing base), its structure (welcome/project/evaluation), the information it includes, and the data processing protocols of this information. The works in progress, of which continuation has now to be organized and planned, are linked to: the precise definition and the contents formulation according to national differences and local practices; the process designs redaction, according to statistical procedures.Cette communication évoque les activités de coordination réalisée par le groupe wp6c qui est responsable de la définition des contenus de la trousse à outils CATALYSE. Dans un premier temps, les guides de diagnostic et d'évaluation qui ont été définis et utilisés par les participants actuels de la CAENTI depuis 1994 ont fait l'objet d'une synthèse pour proposer une sélection d'indicateurs formulés sous forme de questions. Ce sont les informations dont l'intérêt a été reconnu par tous les partenaires. La formulation des questions et de leurs modalités respecte les normes européennes lorsqu'elles existent, afin de faciliter la comparaison avec les indicateurs européens disponibles. Une série de caractéristiques formelles ont été définies au sujet des fonctions et de la structure de ce guide, afin de préparer les étapes suivantes du travail : définition des indicateurs, description de leurs protocoles de traitement et instrumentation

    DBI Galileon inflation in the light of Planck 2015

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    In this work we consider a DBI Galileon (DBIG) inflationary model and constrain its parameter space with the Planck 2015 and BICEP2/Keck array and Planck (BKP) joint analysis data by means of a potential independent analysis. We focus our attention on inflationary solutions characterized by a constant or varying sound speed as well as warp factor. We impose bounds on stringy aspects of the model, such as the warp factor (f)\left(f\right) and the induced gravity parameter (m~)\left(\tilde{m}\right). We study the parameter space of the model and find that the tensor-to-scalar ratio can be as low as r6×104r\simeq6\times10^{-4} and inflation happens to be at GUT scale. In addition, we obtain the tilt of the tensor power spectrum and test the standard inflationary consistency relation (r=8nt)\left(r=-8n_{t}\right) against the latest bounds from the combined results of BKP+Laser Interferometer Gravitational-Waves Observatory (LIGO), and find that DBIG inflation predicts a red spectral index for the tensor power spectrum.Comment: Version accepted in JCAP. 25 pages, 10 figures, new refs adde

    Efecto antiinflamatorio del extracto etanólico de las hojas de Hibiscus rosa-sinensis (cucarda) en ratones albinos.

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    El estudio realizado buscó determinar el efecto antinflamatorio del extracto etanólico de las hojas de Hibiscus rosa-sinensis (cucarda) en ratones albinos, se emplearon 30 ratones albinos divididos en cinco grupos quienes recibieron suero fisiológico 2mL/Kg, el segundo grupo recibió el fármaco Dexametasona 4 mg/kg , el tercer, cuarto y quinto grupo recibieron el extracto de cucarda en concentraciones de 50, 100 y 200 mg/Kg respectivamente, se encontró un porcentaje de rendimiento del extracto de las hojas de cucarda fue de 8.5%, así también el estudio fitoquímico identificó la presencia de flavonoides, taninos, saponinas y alcaloides. También se encontró que el extracto de cucarda a dosis de 200 mg/kg presentó la mayor eficacia antiinflamatoria, manteniendo los parámetros de fórmula leucocitaria dentro de los valores normales, así como HDL y PCR. Concluyendo que el extracto etanólico de las hojas de Hibiscus rosa-sinensis posee actividad antiinflamatoria en ratones albinos.Tesi

    Combined analysis of genome-wide expression and copy number profiles to identify key altered genomic regions in cancer

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    This is an open access article distributed under the terms of the Creative Commons Attribution License.-- Proceedings of the International Conference of the Brazilian Association for Bioinformatics and Computational Biology (X-meeting 2011).[Background]: Analysis of DNA copy number alterations and gene expression changes in human samples have been used to find potential target genes in complex diseases. Recent studies have combined these two types of data using different strategies, but focusing on finding gene-based relationships. However, it has been proposed that these data can be used to identify key genomic regions, which may enclose causal genes under the assumption that disease-associated gene expression changes are caused by genomic alterations. [Results]: Following this proposal, we undertake a new integrative analysis of genome-wide expression and copy number datasets. The analysis is based on the combined location of both types of signals along the genome. Our approach takes into account the genomic location in the copy number (CN) analysis and also in the gene expression (GE) analysis. To achieve this we apply a segmentation algorithm to both types of data using paired samples. Then, we perform a correlation analysis and a frequency analysis of the gene loci in the segmented CN regions and the segmented GE regions; selecting in both cases the statistically significant loci. In this way, we find CN alterations that show strong correspondence with GE changes. We applied our method to a human dataset of 64 Glioblastoma Multiforme samples finding key loci and hotspots that correspond to major alterations previously described for this type of tumors. [Conclusions]: Identification of key altered genomic loci constitutes a first step to find the genes that drive the alteration in a malignant state. These driver genes can be found in regions that show high correlation in copy number alterations and expression changesThis work has been supported by funds provided by the Local Government Junta de Castilla y León (JCyL, ref. project: CSI07A09), by the Spanish Government (ISCiii, ref. project PS09/00843) and by the European Commission (Research Grant ref. FP7-HEALTH-2007-223411). SA thanks the JCyL and the European Social Fund (ESF-EU) for a research grant.Peer Reviewe

    Rehabilitación de una vivienda unifamiliar con refuerzo estructural y calificación alta en Albacete

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    [ES] El siguiente trabajo final de grado se desarrolla en la modalidad de desarrollo de proyectos técnicos de construcción y se centrará en la rehabilitación de una vivienda unifamiliar con refuerzo estructural en la ciudad de Albacete con una calificación alta. Antes de comenzar con el desarrollo de este proyecto se realizará una breve introducción de la vivienda, describiendo su situación, emplazamiento, encuadramiento geográfico y su entorno. Con el desarrollo de esta rehabilitación se pretende hacer que la casa sea lo más sostenible posible y hacer, además, que alcance una eficiencia energética alta, logrando así disminuir su consumo energético. Para lograr este trabajo y cumplir con los objetivos propuestos, se buscará toda la información necesaria, estudiaremos todas las posibles soluciones de rehabilitación escogiendo la más adecuada para nuestra situación, y con ayuda de soportes informáticos se llevará a cabo esta propuesta de intervención. Para finalizar, se comprobará que tras la intervención, esta vivienda cumple con los requisitos de ahorro energético que exige la normativa vigente, realizando así su calificación energética que se comparará con su estado inicial, verificando así la mejora energética.[EN] The following final degree paperwork has been done following the approach normally used for the development of construction technical projects. It will be focusing in the rehabilitation process f or a house using structural reinforcement in Albacete with a high qualification. Before starting, there will be a brief introduction of the house, its situation, location, geographical framework and environment. With this rehabilitation process we intend to make the house as much sustainable as possible and to reach a high efficiency in terms of energy, achieving lower energy consumption. To accomplish this work and reach the goals we have set forth, we will seek all the necessary information and study every possible rehabilitation solution to choose the most suitable one for the situation described. After that we will make our intervention proposal aided by the adequate computer support. Finally, we will check if after intervening the house meets all the energy saving requirements established by current regulation , thus we will realize an energy rating and will compare it with its initial state, verifying the energy improvement.Rodriguez De Guzman Sanchez, C. (2015). Rehabilitación de una vivienda unifamiliar con refuerzo estructural y calificación alta en Albacete. http://hdl.handle.net/10251/54598.TFG

    La construcción de un sistema territorial de información laboral

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    En el ámbito de la investigación–acción, los actores territoriales necesitan disponer de información veraz y actualizada sobre el contexto en el que desean operar. La implementación de acciones dirigidas a resolver problemas en los territorios o a satisfacer, en líneas generales, necesidades latentes en los ciudadanos, requiere partir de un diagnóstico territorial que no siempre está disponible. Por otro lado, y no con menor relevancia, a nivel político, la necesidad de disponer de información socio-económica territorial también es importante, no sólo para diseñar acciones que permitan un crecimiento territorial cohesionado sino también de cara a evaluar el impacto que las decisiones políticas tienen sobre los ciudadanos en diferentes contextos territoriales. Esta cuestión ha sido puesta de manifiesto en numerosos informes y documentos oficiales, máxime en los momentos actuales de crisis económica mundial donde las diferencias territoriales en el seno de los Estados miembros de la Unión Europea se agudizan e impiden alcanzar los objetivos globales estratégicos. En este sentido, la construcción de indicadores socio-económicos armonizados a niveles territoriales inferiores a NUTS 2/3 es una tarea pendiente en el marco de la construcción de indicadores comunitarios de seguimiento de las políticas macroeconómicas y de empleo, en gran parte derivado tanto por la escasez como por el elevado coste que requiere la obtención de información socioeconómica a estos niveles de desagregación territorial.Facultad de Humanidades y Ciencias de la Educació

    Characterization of nanostructured SnO2 films deposited by reactive DC-magnetron sputtering

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    Nanostructured tin oxide thin films were deposited on silicon and glass slides substrates by reactive DC-Magnetron sputtering using a tin target in a mixture of argon and oxygen gases. The substrate temperature was varied in the range from 53 to 243 oC, keeping the other deposition parameters constant. The tin oxide films were characterized by: Scanning Electron Microscopy, Energy Dispersive Spectrometry, X Ray Diffraction, microRaman spectroscopy and UV-VIS spectroscopy. It was found that the substrate temperature has an effect mainly on the structural, morphological and optical properties of the thin films. At 53 and 90 oC the tetragonal crystalline phase was obtained while a mixture of crystalline phases (o-SnO2 and t-SnO2) was obtained at 148, 185 and 243 oC
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