Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Oral-facial-digital type VI syndrome (OFDVI) is a rare phenotype of Joubert syndrome (JS). Recently, C5orf42 was suggested as the major OFDVI gene, being mutated in 9 of 11 families (82 %). We sequenced C5orf42 in 313 JS probands and identified mutations in 28 (8.9 %), most with a phenotype of pure JS. Only 2 out of 17 OFDVI patients (11.7 %) were mutated. A comparison of mutated vs. non-mutated OFDVI patients showed that preaxial and mesoaxial polydactyly, hypothalamic hamartoma and other congenital defects may predict C5orf42 mutations, while tongue hamartomas are more common in negative patients.

Proyectos conjuntos entre grupos de investigación y bibliotecas para la preservación digital y la difusión. El caso de un archivo de fuentes primarias de autores destacados

El interés por preservar y difundir digitalmente los materiales de autores destacados de la cultura de un país es un buen motivo de reunión de investigadores humanistas y Bibliotecas universitarias. A partir del ejemplo de gestación del proyecto Archivo ARCAS de fuentes primarias de autores destacados, se muestra la riqueza de interacciones posibles en un escenario marcado por la sinergia que produce el desarrollo de proyectos conjuntos. Se exponen los antecedentes y se presentan los actores intervinientes. Se detallan las principales decisiones que la FaHCE (UNLP) / IdIHCS (UNLP-CONICET) y su Biblioteca han debido tomar teniendo en cuenta su organización, la disponibilidad de recursos humanos y la base tecnológica existente para que el proyecto pueda prosperar. Luego, a un nivel más técnico, se consignan las principales características del prototipo generado y de su primera fase de implementación. Finalmente, se concluye enunciando los desafíos a futuro que el proyecto demandará, considerando la construcción de una plataforma integrada de fuentes primarias que contemple las necesidades de grupos de investigación con perfiles heterogéneos

Information Management and Mediation in a Digital Reference Service Focused in Social Sciences

This paper investigates the current relationship between information management and information mediation along with the digital reference service through a case study which took place in an academic library. The concept of information mediation is herein analyzed, since a conceptual examination provides elements that will help people to comprehend and evaluate the concerned service. The information professional plays a very important role in the mediation aforementioned, which may be directly or indirectly; consciously or unconsciously; by himself/herself or plurally; individually or inserted into a group ? in all such manners that mediator facilitates the acquisition of information, fully or partially satisfying a user?s need of all sorts of knowledge. Meanwhile, we here approach information management from a scope that points out a description over performed activities concerned to policies and procedures put into effect until the service evaluation by proposing a criterion for such point. Finally, we outline a few actions to be implemented in long-term perspective, which goal is to continually ameliorate such assistance, taking in account the human factor

Information Management and Mediation in a Digital Reference Service Focused in Social Sciences

This paper investigates the current relationship between information management and information mediation along with the digital reference service through a case study which took place in an academic library. The concept of information mediation is herein analyzed, since a conceptual examination provides elements that will help people to comprehend and evaluate the concerned service. The information professional plays a very important role in the mediation aforementioned, which may be directly or indirectly; consciously or unconsciously; by himself/herself or plurally; individually or inserted into a group ? in all such manners that mediator facilitates the acquisition of information, fully or partially satisfying a user?s need of all sorts of knowledge. Meanwhile, we here approach information management from a scope that points out a description over performed activities concerned to policies and procedures put into effect until the service evaluation by proposing a criterion for such point. Finally, we outline a few actions to be implemented in long-term perspective, which goal is to continually ameliorate such assistance, taking in account the human factor

Proyectos conjuntos entre grupos de investigación y bibliotecas para la preservación digital y la difusión. El caso de un archivo de fuentes primarias de autores destacados

El interés por preservar y difundir digitalmente los materiales de autores destacados de la cultura de un país es un buen motivo de reunión de investigadores humanistas y Bibliotecas universitarias. A partir del ejemplo de gestación del proyecto Archivo ARCAS de fuentes primarias de autores destacados, se muestra la riqueza de interacciones posibles en un escenario marcado por la sinergia que produce el desarrollo de proyectos conjuntos. Se exponen los antecedentes y se presentan los actores intervinientes. Se detallan las principales decisiones que la FaHCE (UNLP) / IdIHCS (UNLP-CONICET) y su Biblioteca han debido tomar teniendo en cuenta su organización, la disponibilidad de recursos humanos y la base tecnológica existente para que el proyecto pueda prosperar. Luego, a un nivel más técnico, se consignan las principales características del prototipo generado y de su primera fase de implementación. Finalmente, se concluye enunciando los desafíos a futuro que el proyecto demandará, considerando la construcción de una plataforma integrada de fuentes primarias que contemple las necesidades de grupos de investigación con perfiles heterogéneos

Information Management and Mediation in a Digital Reference Service Focused in Social Sciences

This paper investigates the current relationship between information management and information mediation along with the digital reference service through a case study which took place in an academic library. The concept of information mediation is herein analyzed, since a conceptual examination provides elements that will help people to comprehend and evaluate the concerned service. The information professional plays a very important role in the mediation aforementioned, which may be directly or indirectly; consciously or unconsciously; by himself/herself or plurally; individually or inserted into a group ? in all such manners that mediator facilitates the acquisition of information, fully or partially satisfying a user?s need of all sorts of knowledge. Meanwhile, we here approach information management from a scope that points out a description over performed activities concerned to policies and procedures put into effect until the service evaluation by proposing a criterion for such point. Finally, we outline a few actions to be implemented in long-term perspective, which goal is to continually ameliorate such assistance, taking in account the human factor

Proyectos conjuntos entre grupos de investigación y bibliotecas para la preservación digital y la difusión. El caso de un archivo de fuentes primarias de autores destacados

El interés por preservar y difundir digitalmente los materiales de autores destacados de la cultura de un país es un buen motivo de reunión de investigadores humanistas y Bibliotecas universitarias. A partir del ejemplo de gestación del proyecto Archivo ARCAS de fuentes primarias de autores destacados, se muestra la riqueza de interacciones posibles en un escenario marcado por la sinergia que produce el desarrollo de proyectos conjuntos. Se exponen los antecedentes y se presentan los actores intervinientes. Se detallan las principales decisiones que la FaHCE (UNLP) / IdIHCS (UNLP-CONICET) y su Biblioteca han debido tomar teniendo en cuenta su organización, la disponibilidad de recursos humanos y la base tecnológica existente para que el proyecto pueda prosperar. Luego, a un nivel más técnico, se consignan las principales características del prototipo generado y de su primera fase de implementación. Finalmente, se concluye enunciando los desafíos a futuro que el proyecto demandará, considerando la construcción de una plataforma integrada de fuentes primarias que contemple las necesidades de grupos de investigación con perfiles heterogéneos

Pollen analysis, particle size analysis, end-member modelling and x-ray fluorescence measurements from sediment cores off Cape Ghir, Morocco

Understanding past human-climate-environment interactions is essential for assessing the vulnerability of landscapes and ecosystems to future climate change. This is particularly important in southern Morocco where the current vegetation is impacted by pastoralism, and the region is highly sensitive to climate variability. Here, we present a 2000-year record of vegetation, sedimentation rate, XRF chemical element intensities, and particle size from two decadal-resolved, marine sediment cores, raised from offshore Cape Ghir, southern Morocco. The results show that between 650 and 850 AD the sedimentation rate increased dramatically from 100 cm/1000 years to 300 cm/1000 years, and the Fe/Ca and pollen flux doubled, together indicating higher inputs of terrestrial sediment. Particle size measurements and end-member modelling suggest increased fluvial transport of the sediment. Beginning at 650 AD pollen levels from Cichorioideae species show a sharp rise from 10% to 20%. Pollen from Atemisia and Plantago, also increase from this time. Deciduous oak pollen percentages show a decline, whereas those of evergreen oak barely change. The abrupt increase in terrestrial/fluvial input from 650 to 850 AD occurs, within the age uncertainty, of the arrival of Islam (Islamisation) in Morocco at around 700 AD. Historical evidence suggests Islamisation led to population increase and development of southern Morocco, including expanded pastoralism, deforestation and agriculture. Livestock pressure may have changed the vegetation structure, accounting for the increase in pollen from Cichorioideae, Plantago, and Artemisia, which include many weedy species. Goats in particular may have played a dominant role as agents of erosion, and intense browsing may have led to the decline in deciduous oak; evergreen oak is more likely to survive as it re-sprouts more vigorously after browsing. From 850 AD to present sedimentation rates, Fe/Ca ratios and fluvial discharge remain stable, whereas pollen results suggest continued degradation. Pollen results from the past 150 years suggest expanded cultivation of olives and the native argan tree, and the introduction of Australian eucalyptus trees. The rapidly increasing population in southern Morocco is causing continued pressure to expand pastoralism and agriculture. The history of land degradation presented here suggests that the vegetation in southern Morocco may have been degraded for a longer period than previously thought and may be particularly sensitive to further land use changes. These results should be included in land management strategies for southern Morocco.

Digital elevation model (DEM), surveyed stream network (SSN), mask and stream sampling points (SSP)

These data are provided to allow users for reproducibility of an open source tool entitled 'automated Accumulation Threshold computation and RIparian Corridor delineation (ATRIC)'

A modelling language for the resilience assessment of networked systems of systems

Systems of Systems (SoS) present challenging features and existing tools result often inadequate for their analysis, especially for heteregeneous networked infrastructures. Most accident scenarios in networked systems cannot be addressed by a simplistic black or white (i.e. functioning or failed) approach. Slow deviations from nominal operation conditions may cause degraded behaviours that suddenly end up into unexpected malfunctioning, with large portions of the network affected. In this paper,we present a language for modelling networked SoS. The language makes it possible to represent interdependencies of various natures, e.g. technical, organizational and human. The representation of interdependencies is based on control relationships that exchange physical quantities and related information. The language also makes it possible the identification of accident scenarios, by representing the propagation of failure events throughout the network. The results can be used for assessing the effectiveness of those mechanisms and measures that contribute to the overall resilience, both in qualitative and quantitative terms. The presented modelling methodology is general enough to be applied in combination with already existing system analysis techniques, such as risk assessment, dependability and performance evaluation

Computational methods to create and analyze a digital gene expression atlas of embryo development from microscopy images

Abstract The creation of atlases, or digital models where information from different subjects can be combined, is a field of increasing interest in biomedical imaging. When a single image does not contain enough information to appropriately describe the organism under study, it is then necessary to acquire images of several individuals, each of them containing complementary data with respect to the rest of the components in the cohort. This approach allows creating digital prototypes, ranging from anatomical atlases of human patients and organs, obtained for instance from Magnetic Resonance Imaging, to gene expression cartographies of embryo development, typically achieved from Light Microscopy. Within such context, in this PhD Thesis we propose, develop and validate new dedicated image processing methodologies that, based on image registration techniques, bring information from multiple individuals into alignment within a single digital atlas model. We also elaborate a dedicated software visualization platform to explore the resulting wealth of multi-dimensional data and novel analysis algo-rithms to automatically mine the generated resource in search of bio¬logical insights. In particular, this work focuses on gene expression data from developing zebrafish embryos imaged at the cellular resolution level with Two-Photon Laser Scanning Microscopy. Disposing of quantitative measurements relating multiple gene expressions to cell position and their evolution in time is a fundamental prerequisite to understand embryogenesis multi-scale processes. However, the number of gene expressions that can be simultaneously stained in one acquisition is limited due to optical and labeling constraints. These limitations motivate the implementation of atlasing strategies that can recreate a virtual gene expression multiplex. The developed computational tools have been tested in two different scenarios. The first one is the early zebrafish embryogenesis where the resulting atlas constitutes a link between the phenotype and the genotype at the cellular level. The second one is the late zebrafish brain where the resulting atlas allows studies relating gene expression to brain regionalization and neurogenesis. The proposed computational frameworks have been adapted to the requirements of both scenarios, such as the integration of partial views of the embryo into a whole embryo model with cellular resolution or the registration of anatom¬ical traits with deformable transformation models non-dependent on any specific labeling. The software implementation of the atlas generation tool (Match-IT) and the visualization platform (Atlas-IT) together with the gene expression atlas resources developed in this Thesis are to be made freely available to the scientific community. Lastly, a novel proof-of-concept experiment integrates for the first time 3D gene expression atlas resources with cell lineages extracted from live embryos, opening up the door to correlate genetic and cellular spatio-temporal dynamics. La creación de atlas, o modelos digitales, donde la información de distintos sujetos puede ser combinada, es un campo de creciente interés en imagen biomédica. Cuando una sola imagen no contiene suficientes datos como para describir apropiadamente el organismo objeto de estudio, se hace necesario adquirir imágenes de varios individuos, cada una de las cuales contiene información complementaria respecto al resto de componentes del grupo. De este modo, es posible crear prototipos digitales, que pueden ir desde atlas anatómicos de órganos y pacientes humanos, adquiridos por ejemplo mediante Resonancia Magnética, hasta cartografías de la expresión genética del desarrollo de embrionario, típicamente adquiridas mediante Microscopía Optica. Dentro de este contexto, en esta Tesis Doctoral se introducen, desarrollan y validan nuevos métodos de procesado de imagen que, basándose en técnicas de registro de imagen, son capaces de alinear imágenes y datos provenientes de múltiples individuos en un solo atlas digital. Además, se ha elaborado una plataforma de visualization específicamente diseñada para explorar la gran cantidad de datos, caracterizados por su multi-dimensionalidad, que resulta de estos métodos. Asimismo, se han propuesto novedosos algoritmos de análisis y minería de datos que permiten inspeccionar automáticamente los atlas generados en busca de conclusiones biológicas significativas. En particular, este trabajo se centra en datos de expresión genética del desarrollo embrionario del pez cebra, adquiridos mediante Microscopía dos fotones con resolución celular. Disponer de medidas cuantitativas que relacionen estas expresiones genéticas con las posiciones celulares y su evolución en el tiempo es un prerrequisito fundamental para comprender los procesos multi-escala característicos de la morfogénesis. Sin embargo, el número de expresiones genéticos que pueden ser simultáneamente etiquetados en una sola adquisición es reducido debido a limitaciones tanto ópticas como del etiquetado. Estas limitaciones requieren la implementación de estrategias de creación de atlas que puedan recrear un multiplexado virtual de expresiones genéticas. Las herramientas computacionales desarrolladas han sido validadas en dos escenarios distintos. El primer escenario es el desarrollo embrionario temprano del pez cebra, donde el atlas resultante permite constituir un vínculo, a nivel celular, entre el fenotipo y el genotipo de este organismo modelo. El segundo escenario corresponde a estadios tardíos del desarrollo del cerebro del pez cebra, donde el atlas resultante permite relacionar expresiones genéticas con la regionalización del cerebro y la formación de neuronas. La plataforma computacional desarrollada ha sido adaptada a los requisitos y retos planteados en ambos escenarios, como la integración, a resolución celular, de vistas parciales dentro de un modelo consistente en un embrión completo, o el alineamiento entre estructuras de referencia anatómica equivalentes, logrado mediante el uso de modelos de transformación deformables que no requieren ningún marcador específico. Está previsto poner a disposición de la comunidad científica tanto la herramienta de generación de atlas (Match-IT), como su plataforma de visualización (Atlas-IT), así como las bases de datos de expresión genética creadas a partir de estas herramientas. Por último, dentro de la presente Tesis Doctoral, se ha incluido una prueba conceptual innovadora que permite integrar los mencionados atlas de expresión genética tridimensionales dentro del linaje celular extraído de una adquisición in vivo de un embrión. Esta prueba conceptual abre la puerta a la posibilidad de correlar, por primera vez, las dinámicas espacio-temporales de genes y células.

Propagation mechanism modelling in the near region of circular tunnels

Artículo sobre comunicaciones ferroviarias. Abstract: Along with the increase in operating frequencies in advanced radio communication systems utilised inside tunnels, the location of the break point is further and further away from the transmitter. This means that the near region lengthens considerably and even occupies the whole propagation cell or the entire length of some short tunnels. To begin with, this study analyses the propagation loss resulting from the free-space mechanism and the multi-mode waveguide mechanism in the near region of circular tunnels, respectively. Then, by conjunctive employing the propagation theory and the three-dimensional solid geometry, a general analytical model of the dividing point between two propagation mechanisms is presented for the first time. Moreover, the model is validated by a wide range of measurement campaigns in different tunnels at different frequencies. Finally, discussions on the simplified formulae of the dividing point in some application situations are made. The results in this study can be helpful to grasp the essence of the propagation mechanism inside tunnels.

Land use modelling and the role of stakeholders in natural protected areas: the case of Doñana national park, Spain

Doñana, a National Park since 1969, a UNESCO site since 1994 among other protected area designations of national and international character, is a coastal dune and marshland ecosystem of outstanding importance for biodiversity and conservation at the mouth of the Guadalaquivir River, Southwest Spain. However, the Doñana natural area is seriously threatened by global change factors such as humanly induced climate change, habitat loss, overexploitation of ecosystem services, and pollution. Not all stakeholders are convinced of the benefits of the national park, and management of Doñana, its environs and watershed are the subject of intense disagreement. This interplay between natural characteristics of great value with intense human pressure makes Doñana a fascinating workshop for the study of global human environment interactions. Here, we discuss the role of stakeholders in the application of a cellular automatabased model to Doñana and its environs and present the results of a series of exercises undertaken with stakeholders to parametrize the model, something often done by researchers without stakeholder engagement. By engaging with stakeholders early in the project, feedback generated from workshops contributes to model development. Stakeholders are therefore contributors of empirical data for the model as well as independent evaluators providing local and specialist knowledge.

El Entorno Aumentado: Imperativo informacional para una ecología digital de lo arquitectónico

Esta tesis se suma a los intentos teóricos de clarificar la impronta del dominio digital en lo arquitectónico. Propone una cartografía crítica para reconstruir el proceso de tal convergencia considerando aquellos acontecimientos reveladores que lo han pautado. La integración de la extensión digital propia las tecnologías de la información y la comunicación en el contexto tradicional arquitectónico ha supuesto el advenimiento de un ecosistema artificial complejo. A esta realidad o proceso concurrente se la denomina el Entorno Aumentado. La línea principal de investigación explora el desarrollo de la interacción hombre-máquina, en sendas trayectorias sincrónicas convergentes. El análisis se aborda por tanto desde la consideración de esa naturaleza dual, atendiendo simultáneamente a la humanización del dominio digital o cómo la computación se adapta a la condición natural de ser humano, y a la digitalización del ser humano o cómo éste asume el imperativo digital. El análisis resulta vertebrado desde la condición panóptica del punto de observación del acontecimiento: la cuarta pared, entendida como pantalla y punto de inflexión que estructura la convergencia de los entornos físico y digital. La reflexión acometida sobre la construcción del Entorno Aumentado procura la verificación de la tesis, que es central en esta investigación: la multiplicación dimensional del lugar físico mediante su extensión con un campo informacional procedente del dominio digital, y sus efectos en la construcción de la nueva ecología digital propia del Entorno Aumentado. Esta circunstancia se produce tras la eclosión de la Revolución Digital en la segunda mitad del siglo XX, el consecuente incremento de la interacción entre los entornos digital y físico, y el alcance de un nivel superior de comunicación en los procesos arquitectónicos. Los síntomas del Entorno Aumentado se hacen notar en nuestra contemporaneidad; en ese sentido, la tesis alcanza un diagnóstico del cambio. La fractura y obsolescencia del límite espacio-temporal establecido por las dicotomías históricas privado-público, casa-ciudad, trabajo-ocio,…etc., o la vigencia del proyecto procedimental son algunas de sus consecuencias en el modo de abordar la disciplina arquitectónica. Abstract This dissertation aims to complete the theoretical attempts to clarify the digital domain imprint on the architectural realm. It constructs a critical cartography to reconstruct the process of such convergence, considering those principal events who have scheduled it. The integration of TIC’s digital extension through the traditional architectural context has meant the advent of an artificial complex ecosystem. This reality or concurrent process is called The Augmented Environment. The key research attempt explores man-machine interaction process in both synchronous converging trajectories. The analysis therefore addresses from the consideration of this dual nature, focusing simultaneously in humanizing digital domain process or how the computer fits the natural condition of human beings, and in digitalizing human beings or how it affords the digital imperative. The analysis is structured from the panoptic condition of the event scope: the fourth wall as screen that structures the convergence of physical and digital environments. The examination of The Augmented Environment’s assembly pretends the verification of the central point of this research: the dimensional multiplication of physical space by extending informational fields from the digital domain, and its effects on the construction of the Augmented Environment new digital ecology. This circumstance occurs after the arrival of the Digital Revolution in the second half of the twentieth century, with the consequent increase in the interaction between digital and physical environments, and the reach of a higher level of communication in architectural processes. The Augmented Environment signs are alive nowadays; in that sense, the thesis reaches a diagnostic of the changes. The fracture and obsolescence of the time-space limit established by historic dichotomies as private-public, home-city, working-leisure...etc., or the validity of the procedural design are some of its consequences on the architectural discipline.

Analysis and Modelling of the Structural Components of the Elbow Joint

A recent application of computer simulation is its use for the human body, which resembles a mechanism that is complemented by torques in the joints that are caused by the action of muscles and tendons. Among others, the application can be used to provide training in surgical procedures or to learn how the body works. Some of the other applications are to make a biped walk upright, to build robots that are designed on the human body or to make prostheses or robot arms to perform specific tasks. One of the uses of simulation is to optimise the movement of the human body by examining which muscles are activated and which should or should not be activated in order to improve a person?s movements. This work presents a model of the elbow joint, and by analysing the constraint equations using classic methods we go on to model the bones, muscles and tendons as well as the logic linked to the force developed by them when faced with a specific movement. To do this, we analyse the reference bibliography and the software available to perform the validation.