Targeted resequencing as diagnostic tool in patients with epilepsy

Epilepsy is one of the most common neurological disorder, affecting 5–8/1.000 individuals worldwide. Approximately 20–30 % of epilepsy cases are caused by acquired conditions such as stroke, tumor or head injury, but the remaining 70–80 % of cases are believed to be due to one or more genetic factors. In the last decade, advances in genomic technologies have led to a rapid increase in understanding of epilepsy genetics and to date, to the best of our knowledge, about 1000 genes have been associated with epilepsy. The aim of this study is to determine the contribution of some currently known disease-causing genes in a cohort of Italian patients affected by syndromic or non-syndromic forms of epilepsy. We designed a genes panel for Targeted Resequencing (TRS) containing 85 relevant epilepsy genes responsible for the most common epilepsy phenotypes known so far. A cohort of 49 patients (23 male and 26 female) with a clinical diagnosis of epilepsy, including both sporadic and familial cases, has been enrolled for the study and analyzed by TRS. This approach allowed us to identify variants in 25/49 (51%) patients analyzed. In detail, disease-causing mutations (classified as pathogenic or likely pathogenic following the American College of Medical genetics guidelines), has been identified in 10/25 (40%) affecting the genes ARX, GAMT, KCNQ2, MECP2, SCN1A, POLG, SPTAN1, STXBP1 and TCF4, while variants of uncertain clinical significance (VUS) has been identified in the remaining 15/25 patients (60%) affecting the genes ATP1A2, CACNB4, CLN3, CLN6, CNTN4, CACNA1H, CNTNAP2, GRIN2A, GRIN2B, KCNMA1, LIAS, POLG, PNKP, PRICKLE2, SCN1A, SCN2A, SPTAN1, SCN9A, TSC1. Next Generation Sequencing technologies have revolutionized our approach to genetic epilepsies both from research than clinical perspective. The identification of novel mutations in known epilepsy associated genes is useful to increase our knowledge about the molecular mechanisms of the disease. More importantly, our study highlight once again the utility of next generation sequencing in establishing an etiological basis in clinically and genetically heterogeneous conditions such as epilepsy. Knowing the genetic basis of the disease can be valuable not only for diagnosis but also for guiding treatment and, above all, estimating recurrence risk

Synchronization in interacting Scale Free Networks

We study the fluctuations of the interface, in the steady state, of the Surface Relaxation Model (SRM) in two scale free interacting networks where a fraction $q$ of nodes in both networks interact one to one through external connections. We find that as $q$ increases the fluctuations on both networks decrease and thus the synchronization reaches an improvement of nearly $40\%$ when $q=1$. The decrease of the fluctuations on both networks is due mainly to the diffusion through external connections which allows to reducing the load in nodes by sending their excess mostly to low-degree nodes, which we report have the lowest heights. This effect enhances the matching of the heights of low-and high-degree nodes as $q$ increases reducing the fluctuations. This effect is almost independent of the degree distribution of the networks which means that the interconnection governs the behavior of the process over its topology.Comment: 13 pages, 7 figures. Added a relevant reference.Typos fixe

Diffusion on a lattice: transition rates, interactions and memory effects

We analyze diffusion of particles on a two dimensional square lattice. Each lattice site contains an arbitrary number of particles. Interactions affect particles only in the same site, and are macroscopically represented by the excess chemical potential. In a recent work, a general expression for transition rates between neighboring cells as functions of the excess chemical potential was derived. With transition rates, the mean field tracer diffusivity, $D^\text{MF}$, is immediately obtained. The tracer diffusivity, $D = D^\text{MF} f$, contains the correlation factor $f$, representing memory effects. An analysis of the joint probability of having given numbers of particles at different sites when a force is applied to a tagged particle allows an approximate expression for $f$ to be derived. The expression is applied to soft core interaction (different values for the maximum number of particles in a site are considered) and extended hard core

Recovery of Interdependent Networks

Recent network research has focused on the cascading failures in a system of interdependent networks and the necessary preconditions for system collapse. An important question that has not been addressed is how to repair a failing system before it suffers total breakdown. Here we introduce a recovery strategy of nodes and develop an analytic and numerical framework for studying the concurrent failure and recovery of a system of interdependent networks based on an efficient and practically reasonable strategy. Our strategy consists of repairing a fraction of failed nodes, with probability of recovery $\gamma$, that are neighbors of the largest connected component of each constituent network. We find that, for a given initial failure of a fraction $1-p$ of nodes, there is a critical probability of recovery above which the cascade is halted and the system fully restores to its initial state and below which the system abruptly collapses. As a consequence we find in the plane $\gamma-p$ of the phase diagram three distinct phases. A phase in which the system never collapses without being restored, another phase in which the recovery strategy avoids the breakdown, and a phase in which even the repairing process cannot avoid the system collapse

Geology and morphostructural evolution of Piton de la Fournaise

International audienceThe morphology of Piton de la Fournaise volcano results from the succession of construction, destruction and deformation processes that occurred since at least 530 ka. The chaotic surface of the gently dipping submarine flanks indicates that volcaniclastic deposits related to massive flank landslides and erosion cover most of the submarine flanks. Only a few seamounts like Cône Elianne and the submarine continuation of the rift zones are built by lava flows. In the subaerial domain, Piton de la Fournaise exhibits deeply incised canyons evidencing intense erosion and eastward verging scarps whose origin is still controversial. The different interpretations invoking flank landslides and/or summit collapse calderas are summarized. Geological data indicate a twofold construction of Piton de la Fournaise. Between 530 and 60 kyrs, the volcanic centre located in the current Plaine des Sables led to the building of the western part of the massif. The volcanic centre migrated eastwards to its current location, possibly at 60–40 kyrs. Then Piton de la Fournaise experienced caldera collapses and recurrent phreatomagmatic eruptions especially between 4880 and 2340 yr BP as evidenced by the Bellecombe ash deposit. Most of the recent volcanic activity is now currently focused restricted inside the Enclos Fouqué caldera where lava flow accumulation and rare explosive events built the 400-m-high Central Cone

Programa de desarrollo humano integral ejecutado en estudiantes universitarios

The personal development is an important aspect within the whole and integrated formation during all the educational levels, so, Orientation as a discipline, has an important role in this field. The programs about prevention and development (Bisquerra, 2004), Sanz (2001) y Álvarez (1994), from this perspective, contribute strongly to develop the human potential in all the levels of the evolutive cycle, covering the proper needs in each of personal, social, academic and labor life among others. In fact, the present research showed the value of advice through the Program of Human Development done, previous diagnosis and design, among postgraduate students in the Universidad Nacional Experimental del Táchira. The sample looks 251 students who evaluated the program anonymously, through and instrument having the different variables. The results pointed out that the program can be considered effective because most of the aspects were evaluated in the category of “excellent”, therefore, information was considered with 72.48%- The taken information was considered with 72.58%, the group motivation to do activities was 65.31%, the group aptitude to do the activities shows 69.87%. The suppliers were also evaluated with the category “excellent” within the subject domain with 89.11%, the used vocabulary got 89.07%; the intention to clear up douvots got 81.27%, and the communication within the group, was evaluated with 81.73%. In short, the value of advice given during the general administration of the Program Personal Development was considered with 74.31%.Same of the aspects to improve are the ones related to the physical environment where the activities where developed.  El desarrollo personal es un aspecto fundamental en la formación integral e integradora en todos los niveles educativos, por lo que la Orientación como disciplina, tiene un rol fundamental en este sentido. Los programas de prevención y desarrollo según Bisquerra (2004), Sanz (2001) y Álvarez (1994), desde esta perspectiva, apuntan con mucha fuerza a contribuir con el desarrollo del potencial de la persona en todas las etapas de su ciclo evolutivo cubriendo las necesidades propias en cada etapa de la vida personal, social, académica, laboral, entre otras. De allí que, la presente investigación determinó el valor del asesoramiento a través del Programa de Desarrollo Personal ejecutado, previo diagnóstico y diseño, en estudiantes de postgrado en la Universidad Nacional Experimental del Táchira. La muestra estuvo conformada por 251 estudiantes quienes de forma anónima evaluaron el programa, a través de un instrumento contentivo de las diferentes variables. Los resultados indican que el programa puede considerarse efectivo por cuanto la mayoría de los aspectos fueron evaluados en la categoría “excelente”, así tenemos que el logro de los objetivos obtuvo el 74.48%. La información recibida la consideraron con el 72.58%, la motivación del grupo para ejecutar las actividades se ubicó en un 65.31%, la disposición del grupo para realizar las actividades reporta el 69.87%. Los facilitadores fueron también valorados con la categoría “excelente”, en el dominio del tema en un 89.11%, el vocabulario utilizado obtuvo un 89.07%; la disposición para aclarar dudas, obtuvo el 81.27%, y la comunicación con el grupo, fueron evaluados en una proporción del 81.73%. En definitiva, el valor del asesoramiento brindado en cuanto a la administración general del Programa de Desarrollo Personal fue considerado con la categoría excelente con el 74.13%. Algunas de los aspectos a mejorar son los relativos con el ambiente físico en dónde se desarrollaron las actividades. &nbsp