Identificación de módulos asociados a fenotipos patológicos

Trabajo fin de máster en Bioinformática y Biología ComputacionalCopy Number Variations (CNVs) are genomic structural variations frequently observed in healthy individuals, but can also lead to disease. They are the etiological cause of many rare genomic disorders that affect a large number of people in population, constituting a major public health problem. Unlike other small mutations, deleterious CNVs can reach millions of nucleotides containing several genes and other functional DNA regions. Many of these CNVs have yet unknown relationships to the phenotypes observed in patients. Therefore, the identification of the potentially affected molecular and genetical mechanisms in the CNVs and their relation with certain phenotypes in patients with rare deleterious disorders, nowadays, remains as a big challenge for clinical geneticists. Based on different datasets that links phenotypes, patients and genomic loci, two systemic approaches were used to understand the molecular basis that underlie those CNVs. Firstly, a functional analysis of the genes coded in these regions is carried out to realise which are the biological processes affected by the CNVs mutations thus to the phenotypes. Secondly, a network propagation analysis is done to expand the knowledge of the query genes and its interactome context. The results obtained for a cluster of patients and a number of phenotypes of clinical interest are briefly explaine

Drone Flight Performance Evaluation Methodology Based on Data Science

Nowadays Unmanned Aerial Vehicle (UAV) consist of collaborators for hazardous jobs like deliveries, from commerce to clients, and emergency scenarios, like fire fighting and rescue humanitarian jobs. The pilot’s responsibility has increased as the new requirements settle for new applications, so in this way, they need to have enough capabilities to perform this valuable work. However, this required knowledge, skills, and attitudes not provided in a formal educational institute with an established process. Therefore, there is no method defined to know the level of performance of a Pilot, and this is essential before giving a duty as valuable of delivery. This thesis presents an effort to establish a detailed structured methodology for evaluating a pilot’s ability to coordinate psycho-motor and evaluate this determined pilot’s learning rate in a sequence of flights. Furthermore, to generate a predictive model representing this learning for a specific pilot and give formal evidence of the improvement in the near future and which orientation coordination ability can improve

Precise localization for aerial inspection using augmented reality markers

The final publication is available at link.springer.comThis chapter is devoted to explaining a method for precise localization using augmented reality markers. This method can achieve precision of less of 5 mm in position at a distance of 0.7 m, using a visual mark of 17 mm × 17 mm, and it can be used by controller when the aerial robot is doing a manipulation task. The localization method is based on optimizing the alignment of deformable contours from textureless images working from the raw vertexes of the observed contour. The algorithm optimizes the alignment of the XOR area computed by means of computer graphics clipping techniques. The method can run at 25 frames per second.Peer ReviewedPostprint (author's final draft

Análisis y optimización de una planta de producción de cajas de cambios

El presente proyecto es un estudio del flujo de piezas en una planta de producción de cajas de cambios mediante un modelo de simulación. Más concretamente, el proyecto se ha realizado en SEAT Componentes, que forma parte de SEAT S.A. y fabrica cajas de cambios para todo el consorcio Volkswagen. En los próximos meses está planificado un cambio del sistema de gestión logístico de la planta y se quiere mejorar el flujo de piezas para que garantice el cumplimiento del Programa de Montaje previsto para cada día. Este programa establece las cajas de cambios de cada tipo que se tienen que fabricar cada día según la previsión de ventas. Este proyecto tiene un doble propósito: por una parte, analizar si con el cambio previsto el sistema de transporte es capaz de alimentar a los hornos para cumplir con el Programa de Montaje, y por otra calcular secuencias de entrada de piezas a cada línea de horno que permitan cumplir con este programa. Además, la simulación debe servir como herramienta de trabajo diaria en SEAT Componentes, por lo que debe tener una interfaz sencilla que permita a cualquier usuario trabajar con ella. El modelo de simulación virtual creado en este proyecto simula la planta real desde la fabricación de las distintas piezas en blanco hasta su montaje final, respetando los tiempos y eficiencias reales de las distintas instalaciones, durante una semana de fabricación. Introduciendo el Programa de Montaje de dos semanas vista, el modelo calcula una secuencia de entrada de piezas en horno que se aproxime al máximo al cumplimiento del 100% de ese programa y permite analizar la saturación de las diferentes instalaciones para mejorar el flujo de piezas. El proyecto se corresponde con una petición conjunta de los departamentos de Planificación Logística e Ingeniería de Procesos de SEAT Componentes, y se ha realizado dentro del departamento de Fábrica Digital de SEAT. El software utilizado para realizar la simulación es Plant Simulation, de la familia Tecnomatix de SIEMENS, que es el software de simulación de que dispone el consorcio

Determinación y gestión forestal de un corredor biológicos para aves endémicas de bosques templados "Hotspot" de biodiversidad

Los bosques naturales del mundo han sufrido un proceso de deforestación sin precedentes en la última mitad del siglo XX. Además de la pérdida de superficie forestal, los bosques remanentes han sido intensamente fragmentados. Ambos procesos de degradación de ecosistemas son fenómenos que ocurren a escala global y constituyen problemas ambientales graves por su impacto sobre la biodiversidad. En aras de la conservación de la biodiversidad de estos ecosistemas degradados, se han buscado soluciones de gestión que permitan realizar una conectividad de zonas con alto valor de biodiversidad, así como desarrollar una mejor conservación de estas zonas, gestionándolas como una superficie continua de bosques. En este marco nace el concepto de corredor biológico (CB). La presente investigación demuestra la aplicabilidad de un CB como herramienta de gestión para la conservación de aves endémicas de los ecosistemas de bosques templados del sur de Chile, los cuales son definidos como “Hotspot” de biodiversidad mundial. Se ha diseñado, a tal fin, un corredor biológico en la cordillera de Nahuelbuta para aves endémicas de los bosques templados de Chile, sobre la base, principalmente, de su selección de hábitat. El corredor diseñado cubre 10773,5 ha, las cuales son, en su mayoría, zonas de pendientes media-bajas, expuestas a solana o semiumbría y con vegetación dominada por especies de los géneros Nothofagus y Nothofagus con Araucaria. Delimitar claramente un corredor a través de variables aplicables a la planificación forestal nos permitió generar propuestas para una gestión de estos bosques que apoye, tanto la conservación de especies de fauna endémicas frágiles características de estos bosques, como el uso sustentable de los recursos naturales de estos ecosistemas forestales, constituyentes, como se ha dicho, de un “Hotspot” de biodiversidad mundial.World's natural forests have suffered a deforestation process unprecedented in the last half century XX. Furthermore, the reductions in forest area have contributed to heavily fragmenting the remaining forests. Both processes of ecosystems’ degradation are phenomena that occur globally and constitute serious environmental problems with major impacts on biodiversity. With the purpose of conserving the biodiversity of these degraded ecosystems, management solutions have been looked out that permit ensuring a better conservation of these areas through establishing the connectivity of forest areas of high biodiversity value. Therefore, the efforts made towards managing fragmented areas as a continuous forest area resulted in the concept of biological corridor (BC). This research demonstrates the applicability of this management tool for the conservation of endemic birds of temperate forest ecosystems in southern Chile, which are defined as a "hotspot" for global biodiversity. Therefore, a biological corridor, mainly based on habitat selection, has been designed for the endemic birds of temperate forests in the mountains of Nahuelbuta. The corridor designed covers 10773.5 ha, which are mainly located in areas of medium-low slope, exposed to sunshine or half-shade and vegetation dominated by species of Nothofagus and Nothofagus with Araucaria. To clearly design a corridor through the use of variables applicable to forest planning allowed us to generate proposals for forest management activities that support the conservation of the fragile endemic fauna of these forests and the sustainable use of natural resources in these forest ecosystems that represent a "hotspot" of global biodiversity

Validación del contenido de un cuestionario para evaluar los hábitos y las prácticas de salud bucodental en los escolares

Introducción: Las dos enfermedades dentales más comunes son la enfermedad periodontal y la caries dental. La infancia se configura como un período esencial para adoptar habilidades y hábitos de vida saludables. Así pues, la educación para la salud constituye un conjunto de acciones de reconocida utilidad en la salud bucodental de los niños. Nuestro objetivo es validar el contenido de un cuestionario para evaluar los hábitos y prácticas de salud bucodental en escolares de 5.º y 6.º de educación primaria. Material y método: Se realizó una búsqueda bibliográfica en las principales bases de datos y se elaboró el cuestionario. Para comprobar la validez del contenido, se envió por correo electrónico la versión inicial del cuestionario al panel de expertos, se evaluó la calidad de cada ítem (I-CVI) y la validez global del instrumento (S-CVI). Además, se realizó una prueba piloto con una muestra reducida (10 sujetos) con las mismas características que la muestra objeto de estudio. Resultados: Se obtuvo un cuestionario formado por tres bloques y una validez global de 0,92. En el primer bloque, se valoraron los datos sociodemográficos, y, en el segundo, formado por 23 ítems, los hábitos y prácticas de salud bucodental. En el tercero, el índice de O’Leary. Los resultados de la prueba piloto mostraron que el cuestionario era entendido por la población diana. Conclusiones: El cuestionario presenta unos resultados de validez de contenido adecuados, por lo que es posible utilizarlo para futuras investigaciones.Introduction: Periodontal disease and dental caries are the two most common dental diseases. Childhood is an essential period to adopt skills and habits of healthy life. So, education for health constitutes a set of important actions in the dental hygiene of children. Our objective is to validate the content of a questionnaire to evaluate oral health habits and practices in 5th and 6th grade primary school students. Material and method: A bibliographic search was made in the main databases and the questionnaire was elaborated. To validate the content, the initial version of the questionnaire was sent by e-mail to the panel of experts, the quality of each item was evaluated (I-CVI), as well as the overall validity of the instrument (S-CVI). In addition, a pilot test was carried out with a reduced sample (10 subjects) with the same characteristics as the sample under study. Results: A questionnaire consisting of three blocks and a global validity of 0.92 was obtained. In the first block, the sociodemographic data were valued, and, in the second, consisting of 23 items, oral health habits and practices were valued. In the third, the O'Leary index. The results of the pilot test showed that the questionnaire was understood by the target population. Conclusion: The questionnaire presented adequate content validity results, so it is possible to use it for future research

A new record of Lewis’s Woodpecker, Melanerpes lewis (Gray, 1849) (Aves, Picidae) from Chihuahua, with comments on its status in Mexico

We present a new record of Lewis’s Woodpecker, Melanerpes lewis (Gray, 1849), a rare winter visitor to northern Mexico, in a riparian-grassland corridor at La Regina, Buenaventura Municipality, Chihuahua, on 11–12 January 2014. The record represents the fourth record of this species in the state, and the first record for both the northern portion of the Chihuahua region and the Mexican ecoregion level IV “Foothills and Plains with grasslands, xerophytic scrub and conifer oak forests”. We also comment on its current status and distribution in Mexico

Pottery grave goods from funerary contexts at the argaric site of Peñalosa (Jaén). A methodological approach

The need for interdisciplinary studies is the basis of ambitious research (ARCHEM Project) that is carried out in the argaric settlement of Peñalosa (Baños de la Encina, Jaén), combining organic residues analysis and techno-typological studies of pottery found in funerary contexts. Manufacture and use of pottery could inform us about customs and traditions that remain hidden in time and in the archaeological record. Knowing the implications and decisions of potters as well as the functionality of those vessels deposited inside the graves can approach the idiosyncrasy of a society in the Bronze Age in the southeast of the Iberian Peninsula. The methodology used to identify patterns of functionality is highlighted by the combination of cutting-edge analysis techniques in both fields such as the application of different chromatographic techniques (GC-MS, UPLC-HRMS and GC-CIRMS) that allow to identify the organic compounds in the ceramics and the application of analytical techniques from Earth Sciences (Stereomicroscopic, X-Ray Diffraction and Petrography), which allow us to characterize ceramic pastes and knowing the catchment of raw materials. This study highlights the Peñalosa site as a melting pot of new research and it brings us closer with the use of a complex methodology combined to the societies 4000 years ago.Spanish Ministry of Economy and Competitiveness HAR2015-66009-PJunta de Andalucía HUM 274 FQM 338Spanish Ministry of Economy, Industry and CompetitivinessUniversity of Granad

Distribution of the transcription factor islet-1 in the central nervous system of nonteleost actinopterygian fish: Relationshipwith cholinergic and catecholaminergic systems

Islet-1 (Isl1) is one of the most conserved transcription factors in the evolution of vertebrates, due to its continuing involvement in such important functions as the differentiation of motoneurons, among other essential roles in cell fate in the forebrain. Although its functions are thought to be similar in all vertebrates, the knowledge about the conservation of its expression pattern in the central nervous system goes as far as teleosts, leaving the basal groups of actinopterygian fishes overlooked, despite their important phylogenetic position. In order to assess the extent of its conservation among vertebrates, we studied its expression pattern in the central nervous system of selected nonteleost actinopterygian fishes. By means of immunohistochemical techniques, we analyzed the Isl1 expression in the brain, spinal cord, and sensory ganglia of the cranial nerves of young adult specimens of the cladistian species Polypterus senegalus and Erpetoichthys calabaricus, the chondrostean Acipenser ruthenus, and the holostean Lepisosteus oculatus. We also detected the presence of the transcription factor Orthopedia and the enzymes tyrosine hydroxylase (TH) and choline acetyltransferase (ChAT) to better locate all the immunoreactive structures in the different brain areas and to reveal the possible coexpression with Isl1. Numerous conserved features in the expression pattern of Isl1 were observed in these groups of fishes, such as populations of cells in the subpallial nuclei, preoptic area, subparaventricular and tuberal hypothalamic regions, prethalamus, epiphysis, cranial motor nuclei and sensory ganglia of the cranial nerves, and the ventral horn of the spinal cord. Double labeling of TH and Isl1 was observed in cells of the preoptic area, the subparaventricular and tuberal hypothalamic regions, and the prethalamus, while virtually all motoneurons in the hindbrain and the spinal cord coexpressed ChAT and Isl1. Altogether, these results show the high degree of conservation of the expression pattern of the transcription factor Isl1, not only among fish, but in the subsequent evolution of vertebrates.Depto. de Biología CelularFac. de Ciencias BiológicasTRUEMinisterio de Ciencia e Innovación (MICINN)Universidad Complutense de Madrid (UCM)pu