Update on the Cytogenetics and Molecular Genetics of Chordoma

Chordoma is a rare mesenchymal tumour of complex biology for which only histologic and immunohistochemical criteria have been defined, but no biomarkers predicting the clinical outcome and response to treatment have yet been recognised. We herein review the interdisciplinary information achieved by epidemiologists, neurosurgeons and basic scientists on chordoma, usually a sporadic tumour, which also includes a small fraction of familial cases. Main focus is on the current knowledge of the genetic alterations which might pinpoint candidate genes and molecular mechanisms shared by sporadic and familiar chordomas. Due to the scarcity of the investigated tumour specimens and the multiple chromosome abnormalities found in tumours with aberrant karyotypes, conventional cytogenetics and Fluorescence In Situ Hybridization failed to detect recurrent chordoma-specific chromosomal rearrangements. Genome-wide approaches such as Comparative Genomic Hybridization (CGH) are yet at an initial stage of application and should be implemented using BAC arrays either genome-wide or targeting selected genomic regions, disclosed by Loss of Heterozygosity (LOH) studies. An LOH region was shown by a systematic study on a consistent number of chordomas to encompass 1p36, a genomic interval where a candidate gene was suggested to reside. Despite the rarity of multiplex families with chordoma impaired linkage studies, a chordoma locus could be mapped to chromosome 7q33 by positive lod score in three independent families. The role in chordomagenesis of the Tuberous Sclerosis Complex (TSC) genes has been proved, but the extent of involvement of TSC1 and TSC2 oncosuppressors in chordoma remains to be assessed. In spite of the scarce knowledge on the genetics and molecular biology of chordoma, recent initiation of clinical trials using molecular-targeted therapy, should validate new molecular targets and predict the efficacy of a given therapy. Comparative genetic and biomolecular studies should enhance the molecular taxonomy of chordoma which might have a prognostic significance and better orient the therapeutic options

“Vukovlad (il signore dei lupi)” di Paolo Maurensig

Gli scrittori veneti, particolarmente quelli friulani, mostrano nei loro romanzi, anche nei più realistici, una certa tendenza a mettere in evidenza l’elemento fantastico.Dall’analisi di “Vukovlad” di Paolo Maurensig, autore nato a Gorizia, cercheremo di evidenziare gli elementi propri del genere fantastico quali li propongono Tzvetan Todorov e María Antonietta Cruciata e Monica Farnetti nella loro raccolta “Racconti fantastici del novecento italiano”, in cui si riporta ciò che Montegue Rhode James considera circa la letteratura fantastica. Secondo quest’autore la letteratura fantastica “non è un semplice gioco della fantasia e immaginazione, quanto l’espressione simbolica della vita dell’uomo contemporaneo”, bensì “..è una narrazione allegorica, nel senso che le vicende narrate si spingono oltre la propria specifica paradossalità , divenendo emblema di una condizione umana poco fiduciosa nelle possibilità della ragione di spiegare il caos dell’esistenza”.Nella raccolta citata, le autrici mettono in evidenza il meccanismo del testo fantastico in cui il narratore cerca di creare nel lettore un senso di smarrimento, di inquietudine, di mistero e a volte di orrore e richiede anche la sua complicità.Vedremo quindi come Maurensig mette in opera questo meccanismo nel suo romanzo Vukovla

Turning Away From Averted Gazes: The Effect of Social Exclusion on Gaze Cueing

Past studies showed increased sensitivity to other people’s gaze after social exclusion. In the present research, across two studies, we tested whether social exclusion could affect the basic cognitive phenomenon of gaze-cueing effect, namely, the tendency to redirect visual attention to the same location that other people are looking at. To this purpose, participants were socially excluded or included using the Cyberball manipulation. In Study 1, after the manipulation, participants performed a gaze-cueing task in which an individual’s gaze, oriented rightward or leftward, preceded a peripheral target stimulus requiring a simple categorization response. The gaze direction could be congruent or incongruent with the location of the target. Results revealed a reduced gaze-cueing effect for socially excluded than for socially included participants. In Study 2, where human gazes were replaced by arrow cues, such an interaction between social exclusion and trial congruency disappeared, indicating a specific effect of social stimuli. We interpreted these findings with the notion that excluded participants can perceive an averted gaze as a further sign of social exclusion, thus showing a reduced gaze-cueing effect

La influencia de la educación financiera en los beneficiarios del programa del ministerio de agricultura “Construyendo Capacidades Empresariales Rurales, Confianza y Oportunidad, El Campo Emprende” en algunos municipios de la unidad territorial Medio Bajo Atrato

En América Latina y el Caribe de forma progresiva ha presentado efectos satisfactorios en el desarrollo de la economía en los últimos tiempos, sin embargo, en aspectos como la igualdad, hablando de la pobreza y el poder adquisitivo entre otras particularidades, permiten argumentar si en realidad las condiciones mejoran para toda la población en general, y como esto ha impactado evidenciando los problemas estructurales de las regiones. Debito a esto la Comisión económica para América latina y el caribe (CEPAL) se proyecta una desaceleración económica y que estos para sostener un crecimiento sostenible dinámico e inclusivo requieren de aumentar la inversión y el empleo. determinados autores argumentan que América Latina y el Caribe concentra un alto nivel de desconocimiento financiero, que inhibe que la población general pueda acceder a los productos y servicios financieros de una forma eficiente (administración correcta de recursos), y de una forma eficaz (perpetuando los mejores resultados), para lo que el Ministerio de agricultura de Colombia desde la implementacion y desarrollo del proyecto “Construyendo Capacidades Empresariales Rurales, Confianza y Oportunidad- El Campo Emprende”; busca mejorar las condiciones de vida, ingresos, y empleo de la población en condición de pobreza de los territorios rurales, principalmente en zonas que sufrieron consecuencias derivadas del conflicto interno, y a través del componente de Desarrollo y Fortalecimiento de los Activos Financieros Rurales, apoyará a las familias participantes para que se capaciten en el manejo de sus ingresos y ahorros”; Este componente procura alfabetizar financieramente a determinados grupos con la finalidad de desarrollar su conocimiento y su concepción sobre las finanzas; este trabajo investigativo pretende evaluar la influencia del programa en las capacidades empresariales de la población pertenecientes a algunos municipios de la unidad territorial Medio Bajo Atrato, y como los beneficiarios del programa toman decisiones, administran los recursos financieros personales, familiares y asociativos, la metodología a usar comprende contextos descriptivos y una prueba t para los sujetos relacionados; los resultados han sido totalmente gratificantes demostrando en cada uno de los cuestionamientos que la alfabetización financiera ha aumentado proporcionalmente el conocimiento, mediante las pruebas t se ratifica lo mencionado, con un nivel de significancia de 0,000, es decir un 99,99% de nivel de confianza se concluye que sí existe una diferencia significativa entre la prueba inicial y la posterior, el formato P8 de conocimientos financieros demostró que la capacitación mejoró el conocimiento en 37,70%, el formato P9 autopercepción de competencias financieras converge en un beneficio de 21,17%Latin America and the Caribbean have progressively presented satisfactory effects in the development of the economy, however, in aspects such as equality, speaking of poverty, purchasing power among other particularities, allow arguing if in reality the conditions improve for the entire population in general, certain authors argue that Latin America and the Caribbean concentrates a high level of financial ignorance, This inhibits the general population from accessing financial products and services in an efficient way (correct administration of resources), and in an effective way (perpetuating the best results), so that the Campo Emprende program seeks to make certain groups financially literate in order to develop their knowledge and conception of finance; this research work intends to evaluate the influence of the program on the entrepreneurial skills of the population of Medio Bajo Atrato, the methodology to be used comprises descriptive contexts and a t-test for related subjects; The results have been totally gratifying, demonstrating in each of the questions that financial literacy has proportionally increased knowledge, the t-tests ratify the above mentioned, with a significance level of 0.000, that is, a 99.99% confidence level, it is concluded that there is a significant difference between the initial test and the post-test, the P8 format of financial knowledge demonstrated that the training improved knowledge by 37.70%, the P9 format self-perception of financial competences converges in a benefit of 21.17%

Estrés académico y manejo de tiempo en estudiantes universitarios de Lima, Perú

En la presente investigación se tuvo como objetivo principal el relacionar y describir la relación entre el estrés académico y el manejo de tiempo de un grupo de estudiantes universitarios que cursan los primeros ciclos de facultad. Como instrumentos, se utilizó el Inventario SISCO del estrés académico (Barraza, 2007) y la versión en español de la Escala de Manejo de Tiempo (TMBQ, García-Ros y Pérez-González, 2012). Tras la aplicación, se realizaron los análisis estadísticos pertinentes. Comenzando con la relación entre ambas variables, establecimiento de objetivos y prioridades correlaciona de manera positiva con afrontamiento y negativamente con reacciones psicológicas y comportamentales. Comportamiento similar se encontró con percepción de control de tiempo. Preferencias por la desorganización tiene relación negativa tanto en afrontamiento como los tres tipos de reacciones. Finalmente, se encontraron diferencias significativas en cuanto a sexo, repitencias, percepción de rendimiento, cantidad de horas de estudios y presencia de enfermedades, tanto físicas como mentales.The present investigation had as main objective to relate and describe the levels of academic stress and time management of a group of university students in the first cycles of faculty. As instruments, the inventory of academic stress SISCO (Barraza , 2007) and the Spanish version of the Time Management Scale (TMBQ , García -Ros and Perez - Gonzalez, 2012) were used. Following the application, the relevant statistical analyzes were performed. Beginning with the relationship between both variables, setting goals and priorities correlates positively with coping and negatively with psychological and behavioral reactions. Similar behavior was found with time control perception. Preferences for disorganization have negative relationship both in coping and the three types of reactions. Finally, significant differences were found in terms of gender, repetition, perception of performance, number of hours of studying and presence of physical and mental diseases.Tesi

The 3' untranslated region of human Cyclin-Dependent Kinase 5 Regulatory subunit 1 contains regulatory elements affecting transcript stability

<p>Abstract</p> <p>Background</p> <p><it>CDK5R1 </it>plays a central role in neuronal migration and differentiation during central nervous system development. <it>CDK5R1 </it>has been implicated in neurodegenerative disorders and proposed as a candidate gene for mental retardation. The remarkable size of <it>CDK5R1 </it>3'-untranslated region (3'-UTR) suggests a role in post-transcriptional regulation of <it>CDK5R1 </it>expression.</p> <p>Results</p> <p>The bioinformatic study shows a high conservation degree in mammals and predicts several AU-Rich Elements (AREs). The insertion of <it>CDK5R1 </it>3'-UTR into luciferase 3'-UTR causes a decreased luciferase activity in four transfected cell lines. We identified 3'-UTR subregions which tend to reduce the reporter gene expression, sometimes in a cell line-dependent manner. In most cases the quantitative analysis of luciferase mRNA suggests that CDK5R1 3'-UTR affects mRNA stability. A region, leading to a very strong mRNA destabilization, showed a significantly low half-life, indicating an accelerated mRNA degradation. The 3' end of the transcript, containing a class I ARE, specifically displays a stabilizing effect in neuroblastoma cell lines. We also observed the interaction of the stabilizing neuronal RNA-binding proteins ELAV with the CDK5R1 transcript in SH-SY5Y cells and identified three 3'-UTR sub-regions showing affinity for ELAV proteins.</p> <p>Conclusion</p> <p>Our findings evince the presence of both destabilizing and stabilizing regulatory elements in <it>CDK5R1 </it>3'-UTR and support the hypothesis that <it>CDK5R1 </it>gene expression is post-transcriptionally controlled in neurons by ELAV-mediated mechanisms. This is the first evidence of the involvement of 3'-UTR in the modulation of <it>CDK5R1 </it>expression. The fine tuning of <it>CDK5R1 </it>expression by 3'-UTR may have a role in central nervous system development and functioning, with potential implications in neurodegenerative and cognitive disorders.</p

Scrape-off layer simulations in a Double Null magnetic configuration

Different magnetic geometries are being considered for handling the power exhaust in DEMO, among which is the double-null. In addition to doubling the exhaust area, experiments have found stark differences in the SOL on the HFS and LFS in this configuration[1], allowing the possibility of efficient heating from the HFS in addition to doubling the exhaust area. The contrast between the LFS and HFS calls for theoretical investigation. In fact, the asymmetry can help to disentangle the different driving mechanisms of the turbulence. Since the temperature in the SOL is relatively low, the plasma is sufficiently collisional for a fluid model, such as the drift-reduced Braginskii, to be used. This model has been implemented in the GBS code[2],[3]. Focusing on limited geometries, the SOL width – a crucial quantity to determine the heat load on the plasma facing components – was estimated by identifying the driving linear instability and turbulence saturation mechanism[4]. The analytical and simulation results were validated against a large number of experiments, showing good agreement[5]. Recently, a non-field aligned coordinate system has been implemented in GBS. This avoids the coordinate singularity present for field-aligned coordinates at the X-point, thus allowing any toroidally symmetric magnetic field configuration to be simulated. We will introduce GBS, discuss the implementation of the new coordinate system and show results of the first simulations in a double-null magnetic configuration. We will present the first insights on the nature of SOL turbulence and the SOL width on the HFS and LFS. References [1] B. LaBombard, et al. Nuclear Fusion 55, 052020 [2015] [2] P. Ricci, et al, Plasma Physics and Controlled Fusion 54, 112103 [2012] [3] F. Halpern, et al, Journal of Computational Physics 315, 388 [2016] [4] A. Mosetto, et al, Physics of Plasmas 20, 092308 [2013] [5] F. D. Halpern, et al. Plasma Physics and Controlled Fusion 58, 084003 [2016

A flexible numerical scheme for simulating plasma turbulence in the tokamak scrape off layer

Simulating the most external plasma region of a tokamak, the scrape-off layer (SOL), is of crucial importance in the way towards a fusion reactor as heat load on the vessel wall, impurity generation, and overall plasma confinement, all depend on the plasma dynamics in this region. In the last few years a numerical code, GBS, has been developed for solving the drift-reduced Braginskii equations, and describe turbulence in the tokamak SOL. In the present work, we re-formulate these equations in a general form that enables to treat diverted configuration with X-point. This is obtained by relaxing the requirement of using a coordinate system that follows the magnetic field lines. Within this alternative coordinate system, the drift-reduced Braginskii equations are then solved by using an high order numerical scheme. We show initial simulations carried out with GBS that describe well the expected field aligned turbulence structures