Laser-Induced Crystallization of Sputtered Unhydrogenated Silicon at Low Temperatures

10-um-thick non-hydrogenated amorphous-silicon (a-Si) films were deposited at relatively high rates (_>10 Å/s) by radio-frequency magnetron sputtering (RFMS) on different large-area buffer-layer-coated glass substrates at deposition temperatures ranging from room temperature (RT) to 300oC. These amorphous samples were subsequently crystallized by means of a continuous-wave diode laser, looking for conditions to reach liquid-phase crystallization. The influence of deposition conditions on the quality of the final micro-crystalline silicon films has been studied

Towards Design Patterns for Augmented Reality Serious Games

For professional workers today, keeping up with knowledge and the continuous technology progress is challenging. Increased innovation speed and dynamic work situations shorten preparation times for new tasks significantly. Traditional professional training approaches preparing employees for new tasks are becoming inappropriate. Thus new educational means are needed. These would help employees get acquainted with new situations faster and more efficiently. According to learning theories such as action learning and situated learning, which embed the learning process in the application context and challenge the learner to be actively involved help to improve the learning process. These theories are the basis for mobile learning and serious games. From research in Serious Games we know that games have the potential to actively involve learners and to immerse them in a learning situation and increase their engagement. With Augmented Reality (AR) and wearable devices a new generation of tools and applications becomes available, which inherently are mobile, contextualized and personalized. First successful application scenarios show the potential of these new technologies for education and training. While the application of game-design patterns to learning processes help to systematically design learning games supporting specific learning outcomes, an empirically tested, systematic approach towards the design of AR-based learning solutions is still missing. Based on the state of the art in AR research and in applying design patterns for serious games, we consequently propose a research methodology to apply game design patterns to augmented reality-based learning games for the training of professionals in dynamic situations

Natural Selection Fails to Optimize Mutation Rates for Long-Term Adaptation on Rugged Fitness Landscapes

The rate of mutation is central to evolution. Mutations are required for adaptation, yet most mutations with phenotypic effects are deleterious. As a consequence, the mutation rate that maximizes adaptation will be some intermediate value. Here, we used digital organisms to investigate the ability of natural selection to adjust and optimize mutation rates. We assessed the optimal mutation rate by empirically determining what mutation rate produced the highest rate of adaptation. Then, we allowed mutation rates to evolve, and we evaluated the proximity to the optimum. Although we chose conditions favorable for mutation rate optimization, the evolved rates were invariably far below the optimum across a wide range of experimental parameter settings. We hypothesized that the reason that mutation rates evolved to be suboptimal was the ruggedness of fitness landscapes. To test this hypothesis, we created a simplified landscape without any fitness valleys and found that, in such conditions, populations evolved near-optimal mutation rates. In contrast, when fitness valleys were added to this simple landscape, the ability of evolving populations to find the optimal mutation rate was lost. We conclude that rugged fitness landscapes can prevent the evolution of mutation rates that are optimal for long-term adaptation. This finding has important implications for applied evolutionary research in both biological and computational realms

Los vertebrados fósiles del Abocador de Can Mata (els Hostalets de Pierola, l’Anoia, Cataluña), una sucesión de localidades del Aragoniense superior (MN6 y MN7+8) de la cuenca del Vallès-Penedès. Campañas 2002-2003, 2004 y 2005

A synthesis of the vertebrate fossil record of Abocador de Can Mata (els Hostalets de Pierola, Vallès-Penedès Neogene basin) is reported, with special emphasis on taxonomic and biostratigraphic aspects. For the moment being, this macrosite includes a succession of 91 micro- and/or macrovertebrate sampled localities, which are distributed along about 300 m of stratigraphic series, spanning a time interval of more than a million years, corresponding to the late Aragonian. During the 28 months of field work performed along the 2002-2003, 2004 and 2005 campaigns, more than 15,000 macrovertebrate fossil remains and more than 1,300 small mammal teeth have been recovered—an amount that shall be surely increased in the future, when sieving and sorting of the accumulated sediments is finished. An exhaustive list of all the localities and their stratigraphic contextualization is reported for the first time, along with an updated faunal list and a proposal of local biozonation. The great fossiliferous richness of that area and the huge sampling effort, combined with the requirements of current laws on the protection of paleontological patrimony, explain the success of the paleontological intervention. To sum up, the extension of Can Mata’s rubbish dump provides a unique opportunity for investigating the faunal composition of terrestrial ecosystems from the late Aragonian in Southwestern Europe.Se presenta una síntesis del registro de vertebrados fósiles del Abocador de Can Mata (els Hostalets de Pierola, cuenca neógena del Vallès-Penedès), con especial énfasis en los aspectos taxonómico y bioestratigráfico. Este macroyacimiento incluye por el momento una sucesión de 91 localidades de micro- y/o macrovertebrados muestreadas, repartidas a lo largo de unos 300 m de serie estratigráfica, abarcando un intervalo de tiempo de más de un millón de años correspondiente al Aragoniense superior. Durante los 28 meses de trabajo de campo desarrollados a lo largo de las campañas 2002-2003, 2004 y 2005, se han recuperado más de 15.000 restos de macrovertebrados fósiles y más de 1.300 dientes de micromamíferos (cantidad que se verá incrementada en el futuro cuando haya finalizado el lavado y triado de los sedimentos acumulados). Se presenta por primera vez una lista exhaustiva del conjunto de localidades y su contextualización estratigráfica, además de una lista faunística actualizada y una propuesta de biozonación local. La gran riqueza fosilífera de la zona y el enorme esfuerzo de muestreo, combinados con los requerimientos de la legislación vigente sobre protección del patrimonio paleontológico, explican el éxito de la intervención paleontológica. En conjunto, la ampliación del vertedero de Can Mata, con el adecuado control paleontológico, proporciona una oportunidad única para investigar la composición faunística de los ecosistemas terrestres del Aragoniense superior en el suroeste de Europa

Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis

Purpose: Ocular coloboma arises from genetic or environmental perturbations that inhibit optic fissure (OF) fusion during early eye development. Despite high genetic heterogeneity, 70% to 85% of patients remain molecularly undiagnosed. In this study, we have identified new potential causative genes using cross-species comparative meta-analysis. Methods: Evolutionarily conserved differentially expressed genes were identified through in silico analysis, with in situ hybridization, gene knockdown, and rescue performed to confirm spatiotemporal gene expression and phenotype. Interrogation of the 100,000 Genomes Project for putative pathogenic variants was performed. Results: Nine conserved differentially expressed genes between zebrafish and mouse were identified. Expression of zebrafish ank3a, bmpr1ba/b, cdh4, and pdgfaa was localized to the OF, periocular mesenchyme cells, or ciliary marginal zone, regions traversed by the OF. Knockdown of ank3, bmpr1b, and pdgfaa revealed a coloboma and/or microphthalmia phenotype. Novel pathogenic variants in ANK3, BMPR1B, PDGFRA, and CDH4 were identified in 8 unrelated coloboma families. We showed BMPR1B rescued the knockdown phenotype but variant messenger RNAs failed, providing evidence of pathogenicity. Conclusion: We show the utility of cross-species meta-analysis to identify several novel coloboma disease-causing genes. There is a potential to increase the diagnostic yield for new and unsolved patients while adding to our understanding of the genetic basis of OF morphogenesis

Assessing the digenic model in rare disorders using population sequencing data

An important fraction of patients with rare disorders remains with no clear genetic diagnostic, even after whole-exome or whole-genome sequencing, posing a difficulty in giving adequate treatment and genetic counseling. The analysis of genomic data in rare disorders mostly considers the presence of single gene variants in coding regions that follow a concrete monogenic mode of inheritance. A digenic inheritance, with variants in two functionally-related genes in the same individual, is a plausible alternative that might explain the genetic basis of the disease in some cases. In this case, digenic disease combinations should be absent or underrepresented in healthy individuals. We develop a framework to evaluate the significance of digenic combinations and test its statistical power in different scenarios. We suggest that this approach will be relevant with the advent of new sequencing efforts including hundreds of thousands of samples