"Next-generation" Sequencing (NGS): The new genomic revolution

In the past 5 years "Next-generation" Sequencing (NGS) technologies have transformed genomics by delivering fast, inexpensive and accurate genomeinformation changing the way we think about scientific approaches in basic,applied and clinical research. The inexpensive production of large volumes ofsequence data is the main advantage over the automated Sanger method,making this new technology useful for many applications. In this chapter, a brieftechnical review of NGS technologies is given, along with the keys to NGSsuccess and a broad range of applications for NGS technologies.

The cave (La caverna -1952-1969) by Josep Palau i Fabre: theatre versus philosophical allegory in order both to perform and stop the tragic and dark end of the bright art of thinking

What is the use of representing in performance the image of the cave from book VII of Plato’s Republic? Josep Palau i Fabre considers that in Plato’s dialogues the speakers are mere instruments at the service of his dialectical purpose. The aim of this article is to show how, by turning the myth into a tragedy and relying on Heraclitus’s conflict or war of opposites, the playwright succeeds in favouring a sort of thought which is not one-sided or univocal. On the contrary, in Palau i Fabre’s La Caverna, the tragic hero, the released prisoner transformed by the light of Reality and finally killed by his “cavemates” –after having been imprisoned again and having tried to rescue them from their ignorance or shadows– still leaves them his powerful experience of the agonistikós thought, which might bear fruit in their life to come.

Improving the prediction of the functional impact of cancer mutations by baseline tolerance transformation

High-throughput prioritization of cancer-causing mutations (drivers) is a key challenge of cancer genome projects, due to the number of somatic variants detected in tumors. One important step in this task is to assess the functional impact of tumor somatic mutations. A number of computational methods have been employed for that purpose, although most were originally developed to distinguish disease-related nonsynonymous single nucleotide variants (nsSNVs) from polymorphisms. Our new method, transformed Functional Impact score for Cancer (transFIC), improves the assessment of the functional impact of tumor nsSNVs by taking into account the baseline tolerance of genes to functional variants.

A non-linear VAD for noisy environments

This paper deals with non-linear transformations for improving the performance of an entropy-based voice activity detector (VAD). The idea to use a non-linear transformation has already been applied in the field of speech linear prediction, or linear predictive coding (LPC), based on source separation techniques, where a score function is added to classical equations in order to take into account the true distribution of the signal. We explore the possibility of estimating the entropy of frames after calculating its score function, instead of using original frames. We observe that if the signal is clean, the estimated entropy is essentially the same; if the signal is noisy, however, the frames transformed using the score function may give entropy that is different in voiced frames as compared to nonvoiced ones. Experimental evidence is given to show that this fact enables voice activity detection under high noise, where the simple entropy method fails.

Microstructural evolution of primary crystallization in diffusion-controlled grain growth

A model has been developed for evaluating grain size distributions in primary crystallizations where the grain growth is diffusion controlled. The body of the model is grounded in a recently presented mean-field integration of the nucleation and growth kinetic equations, modified conveniently in order to take into account a radius-dependent growth rate, as occurs in diffusion-controlled growth. The classical diffusion theory is considered, and a modification of this is proposed to take into account interference of the diffusion profiles between neighbor grains. The potentiality of the mean-field model to give detailed information on the grain size distribution and transformed volume fraction for transformations driven by nucleation and either interface- or diffusion-controlled growth processes is demonstrated. The model is evaluated for the primary crystallization of an amorphous alloy, giving an excellent agreement with experimental data. Grain size distributions are computed, and their properties are discussed.

The psychosocial difficulties in brain disorders that explain short term changes in health outcomes.

BACKGROUND: This study identifies a set of psychosocial difficulties that are associated with short term changes in health outcomes across a heterogeneous set of brain disorders, neurological and psychiatric. METHODS: Longitudinal observational study over approximately 12 weeks with three time points of assessment and 741 patients with depression, bipolar disorders, multiple sclerosis, parkinson's disease, migraine, traumatic brain injury and stroke. The data on disability was collected with the checklist of the International Classification of Functioning, Disability and Health. The selected health outcomes were the Short Form 36 and the World Health Organization Disability Assessment Schedule. Multilevel models for change were applied controlling for age, gender and disease severity. RESULTS: The psychosocial difficulties that explain the variability and change over time of the selected health outcomes were energy and drive, sleep, and emotional functions, and a broad range of activities and participation domains, such as solving problems, conversation, areas of mobility and self-care, relationships, community life and recreation and leisure. CONCLUSIONS: Our findings are of interest to researchers and clinicians for interventions and health systems planning as they show that in addition to difficulties that are diagnostic criteria of these disorders, there are other difficulties that explain small changes in health outcomes over short periods of time.

La Política 2.0 amb la generació Nintendo

The eruption of Web 2.0 has transformed the uses and strategies of political communication. The campaign developed by Obama's team is a good example of the electoral efficiency of these new tools whose results we are now analysing and evaluating. While our present leaders could be classified as the "fax generation", the North American experience opens the doors to a new way of relating with the electoral masses. With these new instruments of interactive communication, voters have the space to be able to make their voices heard and to be able to affect the electoral programme, something which undoubtedly benefits an election campaign's degree of democratic quality

Convenient synthesis of C75, an inhibitor of FAS and CPT1

C75 is a synthetic racemic α-methylene-γ-butyrolactone exhibiting anti-tumoral properties in vitro and in vivo as well as inducing hypophagia and weight loss in rodents. These interesting properties are thought to be a consequence of the inhibition of the key enzymes FAS and CPT1 involved in lipid metabolism. The need for larger amounts of this compound for biological evaluation prompted us to develop a convenient and reliable route to multigram quantities of C75 from easily available ethyl penta-3,4-dienoate 6. A recently described protocol for the addition of 6 to a mixture of dicyclohexylborane and nonanal followed by acidic treatment of the crude afforded lactone 8, as a mixture of cis and trans isomers, in good yield. The DBU-catalyzed isomerization of the methyl esters 9 arising from 8 gave a 10:1 trans/cis mixture from which the trans isomer was isolated and easily transformed into C75. The temporary transformation of C75 into a phenylseleno ether derivative makes its purification, manipulation and storage easier.

Cooperative games with size-truncated information

[Eng] We study the marginal worth vectors and their convex hull, the socalled Weber set, from the original coalitional game and the transformed one, which is called the Weber set of level k. We prove that the core of the original game is included in each of the Weber set of level k, for any k, and that the Weber sets of consecutive levels form a chain if and only if the original game is 0-monotone. Even if the game is not 0-monotone, the intersection of the Weber sets for consecutive levels is always not empty, what is not the case for non-consecutive ones. Spanish education system.

Cooperative games with size-truncated information

[Eng] We study the marginal worth vectors and their convex hull, the socalled Weber set, from the original coalitional game and the transformed one, which is called the Weber set of level k. We prove that the core of the original game is included in each of the Weber set of level k, for any k, and that the Weber sets of consecutive levels form a chain if and only if the original game is 0-monotone. Even if the game is not 0-monotone, the intersection of the Weber sets for consecutive levels is always not empty, what is not the case for non-consecutive ones. Spanish education system.

The effect of scale in daily precipitation hazard assessment

Daily precipitation is recorded as the total amount of water collected by a rain-gauge in 24 h. Events are modelled as a Poisson process and the 24 h precipitation by a Generalised Pareto Distribution (GPD) of excesses. Hazard assessment is complete when estimates of the Poisson rate and the distribution parameters, together with a measure of their uncertainty, are obtained. The shape parameter of the GPD determines the support of the variable: Weibull domain of attraction (DA) corresponds to finite support variables as should be for natural phenomena. However, Fréchet DA has been reported for daily precipitation, which implies an infinite support and a heavy-tailed distribution. Bayesian techniques are used to estimate the parameters. The approach is illustrated with precipitation data from the Eastern coast of the Iberian Peninsula affected by severe convective precipitation. The estimated GPD is mainly in the Fréchet DA, something incompatible with the common sense assumption of that precipitation is a bounded phenomenon. The bounded character of precipitation is then taken as a priori hypothesis. Consistency of this hypothesis with the data is checked in two cases: using the raw-data (in mm) and using log-transformed data. As expected, a Bayesian model checking clearly rejects the model in the raw-data case. However, log-transformed data seem to be consistent with the model. This fact may be due to the adequacy of the log-scale to represent positive measurements for which differences are better relative than absolute

Convenient synthesis of C75, an inhibitor of FAS and CPT1

C75 is a synthetic racemic α-methylene-γ-butyrolactone exhibiting anti-tumoral properties in vitro and in vivo as well as inducing hypophagia and weight loss in rodents. These interesting properties are thought to be a consequence of the inhibition of the key enzymes FAS and CPT1 involved in lipid metabolism. The need for larger amounts of this compound for biological evaluation prompted us to develop a convenient and reliable route to multigram quantities of C75 from easily available ethyl penta-3,4-dienoate 6. A recently described protocol for the addition of 6 to a mixture of dicyclohexylborane and nonanal followed by acidic treatment of the crude afforded lactone 8, as a mixture of cis and trans isomers, in good yield. The DBU-catalyzed isomerization of the methyl esters 9 arising from 8 gave a 10:1 trans/cis mixture from which the trans isomer was isolated and easily transformed into C75. The temporary transformation of C75 into a phenylseleno ether derivative makes its purification, manipulation and storage easier.

Life cycle analysis and life cyle impact assessment methodologies: a state of the art

Life cycle analysis (LCA) is a comprehensive method for assessing the environmental impact of a product or an activity over its entire life cycle. The purpose of conducting LCA studies varies from one application to another. Different applications use LCA for different purposes. In general, the main aim of using LCA is to reduce the environmental impact of products through guiding the decision making process towards more sustainable solutions. The most critical phase in an LCA study is the Life Cycle Impact Assessment (LCIA) where the life cycle inventory (LCI) results of the considered substances related to the study of a certain system are transformed into understandable impact categories that represent the impact on the environment. In this research work, a general structure clarifying the steps that shall be followed ir order to conduct an LCA study effectively is presented. These steps are based on the ISO 14040 standard framework. In addition, a survey is done on the most widely used LCIA methodologies. Recommendations about possible developments and suggetions for further research work regarding the use of LCA and LCIA methodologies are discussed as well.

Migracions i microestats

Els països més petits d’Europa han transformat les seves bases econòmiques emparats en les possibilitats que els oferia el seu fet diferencial. La consecució d’una economia bàsicament terciària s’ha acompanyat d’un canvi en les funcions territorials i, especialment, d’un augment important de la població, de manera que han passat de ser societats emissores a ser societats receptores pel que fa als moviments migratoris. La composició de la població segons el seu origen mostra que aquestes societats tenen uns percentatges d’immigrants superiors al 60% en dos dels casos, i molt superior al 10% en la resta. Avui, els microestats europeus són l’expressió moderna de la ciutat estat d’altres èpoques, però, a més, s’han convertit en veritables societats multiculturals a les portes del segle XXI.

Conocimiento del catalán y castellano por parte del alumnado inmigrante

A lo largo de la última década en Cataluña, la heterogeneidad identitaria, lingüística, cultural y étnica ha crecido de manera importante. En consecuencia, nuestras escuelas se han transformado en centros donde la pluralidad étnica, religiosa, cultural y lingüística es cada día más evidente. Pero, a diferencia de otros territorios del Estado, una de las características fundamentales de nuestro Sistema Educativo es su organización bajo los parámetros de la educación bilingüe. De esta manera, además de un profundo dominio del catalán, lengua propia de Cataluña y lengua usada como vehicular y de aprendizaje en la enseñanza, se persigue un buen conocimiento de la lengua castellana. En este contexto, diferentes estudios ponen en evidencia el papel clave del dominio de la lengua de la escuela tanto de cara a garantizar el éxito escolar como para la integración y la cohesión social. Con este marco de fondo, nos situamos en el caso del Instituto de Educación Secundaria (IES) de Guissona, en la comarca de la Segarra, donde por circunstancias diversas el fenómeno migratorio ha sido muy importante a lo largo de la última década. El objetivo de nuestra investigación es el análisis de las competencias lingüísticas del alumnado de dicho centro, tomando como referencia el nivel de competencia lingüística de sus iguales autóctonos.En concreto, a partir de una muestra de 28 niños y niñas inmigrantes que fueron comparados con un grupo de 93 escolares autóctonos de su misma edad y nivel escolar, nuestro trabajo analiza el desarrollo de diferentes habilidades en lengua catalana y castellana.