946 resultados para Carmelina Sánchez-Cutillas


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308 p.

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SARRERA: Kromosomopatiei inguru gehiago ezagutzen doan heinean, hauek detektatzeko erabiltzen diren teknikak garatuz doaz. Detekzio teknikak bi taldeetan sailkatzen dira: teknika inbasiboak (amniozentesia, kordozentesia eta bellositate korionikoen azterketa) eta teknika ez inbasiboak (zelula edota azido nukleiko fetalen azterketa amaren odolean). HELBURUAK: Errebisio bibliografiko honen helburua amniozentesia eta froga ez inbasiboen deskribapena egitea da, baita hauen abantailak eta desabantailak deskribatzea. METODOLOGIA: Behin errebisio honen gaia zehaztuta egon zenean, bilaketa bibliografikoa egin zen Cochrane, PubMed eta beste datu baseetan. Ondoren, sartzeko eta baztertzeko irizpideak kontuan hartuta, artikuluen hautaketa egin zen. EMAITZAK: Amniozentesiaren teknikak hainbat arrisku dakar (abortua, amniorrea, lesioak fetuan, etab.) eta hauen portzentaiak altuak ez diren arren, haurdunaldian izan ahal dituzten ondorioak larriak dira. Bestalde, froga ez inbasiboen erabilpenen artean behin betiko diagnostikoa ezin da sartu hauen faltsu negatiboen tasa dela eta. Azkenik, erizaintzak rol garrantzitsua jokatzen du arlo honetan eta osasun langileek ezaguera eguneratuak izan beharko dituzte pazienteei informazio egokia emateko. ONDORIOAK: amniozentesiaren arrisku zerrenda luzea den arren, momentuz behin betiko diagnostikoa egiteko balio duen froga bakarra da (froga inbasiboekin batera) izan ere, froga ez inbasiboak momentuz ez daude prest behin betiko diagnostikoa egiteko.

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Helburuak. Distrofia miotonikoan ematen diren sintomarik esanguratsuenak bildu, gaixoen eta senideen bizi-kalitatea aztertu eta osasunaren aldetik eman daitezkeen esku hartzeak aztertzea. Metodologia. Pubmed, Cochrane, ScienceDirect, Canadian Journal of Neuroscience Nursing (CJNN) eta hainbat erakunderen web orrialdeetan burututako bilaketa bibliografiko baten bidez, eta erreferentziazko pertsonekin kontaktuan jarriz, 14 artikulu, tesi bat, bost liburu eta hainbat web orrialderen bilaketa egin da. Konklusioak. Beharrezkoa da gaixotasun honen inpaktuaren azterketa sakonago bat burutzea. Alde fisiopatologikoa nahiko garatua dagoen arren, gaixotasuna pazienteen ikuspegitik aztertzeak atentziorako datu garrantzitsuak eman ditzake. Gaixotasun honen jarraipenerako gidak garatzen ari diren arren, oraindik asko dago gai honen inguruan egiteko.

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[ES] Para más información sobre este trabajo, puede consultarse el registro: "Documentación geométrica de los restos del Teatro Romano de Córdoba", http://hdl.handle.net/10810/9167

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Phosphoglucose isomerase (PGI) catalyzes the reversible isomerization of glucose-6-phosphate and fructose-6-phosphate. It is involved in glycolysis and in the regeneration of glucose-6-P molecules in the oxidative pentose phosphate pathway (OPPP). In chloroplasts of illuminated mesophyll cells PGI also connects the Calvin-Benson cycle with the starch biosynthetic pathway. In this work we isolated pgi1-3, a mutant totally lacking pPGI activity as a consequence of aberrant intron splicing of the pPGI encoding gene, PGI1. Starch content in pgi1-3 source leaves was ca. 10-15% of that of wild type (WT) leaves, which was similar to that of leaves of pgi1-2, a T-DNA insertion pPGI null mutant. Starch deficiency of pgi1 leaves could be reverted by the introduction of a sex1 null mutation impeding beta-amylolytic starch breakdown. Although previous studies showed that starch granules of pgi1-2 leaves are restricted to both bundle sheath cells adjacent to the mesophyll and stomata guard cells, microscopy analyses carried out in this work revealed the presence of starch granules in the chloroplasts of pgi1-2 and pgi1-3 mesophyll cells. RT-PCR analyses showed high expression levels of plastidic and extra-plastidic beta-amylase encoding genes in pgi1 leaves, which was accompanied by increased beta-amylase activity. Both pgi1-2 and pgi1-3 mutants displayed slow growth and reduced photosynthetic capacity phenotypes even under continuous light conditions. Metabolic analyses revealed that the adenylate energy charge and the NAD(P) H/NAD(P) ratios in pgi1 leaves were lower than those of WT leaves. These analyses also revealed that the content of plastidic 2-C-methyl-D-erythritol 4-phosphate (MEP)-pathway derived cytokinins (CKs) in pgi1 leaves were exceedingly lower than in WT leaves. Noteworthy, exogenous application of CKs largely reverted the low starch content phenotype of pgi1 leaves. The overall data show that pPGI is an important determinant of photosynthesis, energy status, growth and starch accumulation in mesophyll cells likely as a consequence of its involvement in the production of OPPP/glycolysis intermediates necessary for the synthesis of plastidic MEP-pathway derived hormones such as CKs.

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We aimed to study the selective pressures interacting on SLC45A2 to investigate the interplay between selection and susceptibility to disease. Thus, we enrolled 500 volunteers from a geographically limited population (Basques from the North of Spain) and by resequencing the whole coding region and intron 5 of the 34 most and the 34 least pigmented individuals according to the reflectance distribution, we observed that the polymorphism Leu374Phe (L374F, rs16891982) was statistically associated with skin color variability within this sample. In particular, allele 374F was significantly more frequent among the individuals with lighter skin. Further genotyping an independent set of 558 individuals of a geographically wider population with known ancestry in the Spanish population also revealed that the frequency of L374F was significantly correlated with the incident UV radiation intensity. Selection tests suggest that allele 374F is being positively selected in South Europeans, thus indicating that depigmentation is an adaptive process. Interestingly, by genotyping 119 melanoma samples, we show that this variant is also associated with an increased susceptibility to melanoma in our populations. The ultimate driving force for this adaptation is unknown, but it is compatible with the vitamin D hypothesis. This shows that molecular evolution analysis can be used as a useful technology to predict phenotypic and biomedical consequences in humans.

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[ES]El objetivo de este proyecto es el desarrollo de un sistema de adquisición y tratamiento de señales analógicas para la medida experimental de la posición y aceleración. Por un lado, la adquisición de señales se llevará a cabo mediante una placa electrónica programable llamada “Arduino”. Por otro lado, haciendo uso de la plataforma LabVIEW, se creará un programa para analizar dichas señales. Se medirán señales analógicas provenientes de diferentes sensores (inclinómetros y acelerómetros).

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[ES]El objetivo de este proyecto es conocer el funcionamiento de la Central Hidroeléctrica de Bertxin – Leizarán y plantear alternativas económicamente viables para mejorar la eficiencia de la misma. Se analizará para cada una de las alternativas propuestas el efecto en el rendimiento de la central, así como el impacto económico estimado, atendiendo al precio de la obra y el equipo necesario. Así, se determinará la solución óptima, que será desarrollada en el anteproyecto.

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[ES]En el presente trabajo de fin de grado se expondrá el análisis cinemático de un robot IRB120 de ABB y el desarrollo de una herramienta grafica para su visualización. Comenzando por un estudio del estado del arte de la robótica industrial. El análisis cinemático es plantear las ecuaciones del robot y la resolución del problema directo e inverso mediante el software Matlab. Por último, la herramienta grafica muestra el movimiento del robot y los sistemas de referencia en la trayectoria introducida por el usuario.

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[Es]Este documento muestra un análisis de los requisitos para el micro-fresado de un molde. Es importante remarcar que este molde será usado para producir micro-lentes. La herramienta realizará una matriz de cavidades en una pieza cilíndrica y el tamaño de estas coincidirá con el tamaño de las microlentes. Este proyecto será programado mediante el software de MATLAB. El objetivo es calcular tanto la trayectoria de la herramienta, como su inclinación, velocidad, aceleración y jerk. Además este programa calculará las fuerzas de corte en cada instante del mecanizado. Por último, cabe mencionar que los resultados de este proyecto darán soporte a otros proyectos.

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Background: The high demanding computational requirements necessary to carry out protein motion simulations make it difficult to obtain information related to protein motion. On the one hand, molecular dynamics simulation requires huge computational resources to achieve satisfactory motion simulations. On the other hand, less accurate procedures such as interpolation methods, do not generate realistic morphs from the kinematic point of view. Analyzing a protein's movement is very similar to serial robots; thus, it is possible to treat the protein chain as a serial mechanism composed of rotational degrees of freedom. Recently, based on this hypothesis, new methodologies have arisen, based on mechanism and robot kinematics, to simulate protein motion. Probabilistic roadmap method, which discretizes the protein configurational space against a scoring function, or the kinetostatic compliance method that minimizes the torques that appear in bonds, aim to simulate protein motion with a reduced computational cost. Results: In this paper a new viewpoint for protein motion simulation, based on mechanism kinematics is presented. The paper describes a set of methodologies, combining different techniques such as structure normalization normalization processes, simulation algorithms and secondary structure detection procedures. The combination of all these procedures allows to obtain kinematic morphs of proteins achieving a very good computational cost-error rate, while maintaining the biological meaning of the obtained structures and the kinematic viability of the obtained motion. Conclusions: The procedure presented in this paper, implements different modules to perform the simulation of the conformational change suffered by a protein when exerting its function. The combination of a main simulation procedure assisted by a secondary structure process, and a side chain orientation strategy, allows to obtain a fast and reliable simulations of protein motion.