552 research outputs found

    Behavioral and molecular genetics of reading-related AM and FM detection thresholds

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    Auditory detection thresholds for certain frequencies of both amplitude modulated (AM) and frequency modulated (FM) dynamic auditory stimuli are associated with reading in typically developing and dyslexic readers. We present the first behavioral and molecular genetic characterization of these two auditory traits. Two extant extended family datasets were given reading tasks and psychoacoustic tasks to determine FM 2 Hz and AM 20 Hz sensitivity thresholds. Univariate heritabilities were significant for both AM (h2 = 0.20) and FM (h2 = 0.29). Bayesian posterior probability of linkage (PPL) analysis found loci for AM (12q, PPL = 81 %) and FM (10p, PPL = 32 %; 20q, PPL = 65 %). Bivariate heritability analyses revealed that FM is genetically correlated with reading, while AM was not. Bivariate PPL analysis indicates that FM loci (10p, 20q) are not also associated with reading

    Spatial and topological organization of DNA chains induced by gene co-localization

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    Transcriptional activity has been shown to relate to the organization of chromosomes in the eukaryotic nucleus and in the bacterial nucleoid. In particular, highly transcribed genes, RNA polymerases and transcription factors gather into discrete spatial foci called transcription factories. However, the mechanisms underlying the formation of these foci and the resulting topological order of the chromosome remain to be elucidated. Here we consider a thermodynamic framework based on a worm-like chain model of chromosomes where sparse designated sites along the DNA are able to interact whenever they are spatially close-by. This is motivated by recurrent evidence that there exists physical interactions between genes that operate together. Three important results come out of this simple framework. First, the resulting formation of transcription foci can be viewed as a micro-phase separation of the interacting sites from the rest of the DNA. In this respect, a thermodynamic analysis suggests transcription factors to be appropriate candidates for mediating the physical interactions between genes. Next, numerical simulations of the polymer reveal a rich variety of phases that are associated with different topological orderings, each providing a way to increase the local concentrations of the interacting sites. Finally, the numerical results show that both one-dimensional clustering and periodic location of the binding sites along the DNA, which have been observed in several organisms, make the spatial co-localization of multiple families of genes particularly efficient.Comment: Figures and Supplementary Material freely available on http://dx.doi.org/10.1371/journal.pcbi.100067

    Cross validation of bi-modal health-related stress assessment

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    This study explores the feasibility of objective and ubiquitous stress assessment. 25 post-traumatic stress disorder patients participated in a controlled storytelling (ST) study and an ecologically valid reliving (RL) study. The two studies were meant to represent an early and a late therapy session, and each consisted of a "happy" and a "stress triggering" part. Two instruments were chosen to assess the stress level of the patients at various point in time during therapy: (i) speech, used as an objective and ubiquitous stress indicator and (ii) the subjective unit of distress (SUD), a clinically validated Likert scale. In total, 13 statistical parameters were derived from each of five speech features: amplitude, zero-crossings, power, high-frequency power, and pitch. To model the emotional state of the patients, 28 parameters were selected from this set by means of a linear regression model and, subsequently, compressed into 11 principal components. The SUD and speech model were cross-validated, using 3 machine learning algorithms. Between 90% (2 SUD levels) and 39% (10 SUD levels) correct classification was achieved. The two sessions could be discriminated in 89% (for ST) and 77% (for RL) of the cases. This report fills a gap between laboratory and clinical studies, and its results emphasize the usefulness of Computer Aided Diagnostics (CAD) for mental health care

    A Sensitive High-Throughput Assay for Evaluating Host-Pathogen Interactions in Cryptococcus neoformans Infection

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    Background: Cryptococcus neoformans causes serious disease in immunocompromised individuals, leading to over 600,000 deaths per year worldwide. Part of this impact is due to the organism’s ability to thwart what should be the mammalian hosts ’ first line of defense against cryptococcal infection: internalization by macrophages. Even when C. neoformans is engulfed by host phagocytes, it can survive and replicate within them rather than being destroyed; this ability is central in cryptococcal virulence. It is therefore critical to elucidate the interactions of this facultative intracellular pathogen with phagocytic cells of its mammalian host. Methodology/Principal Findings: To accurately assess initial interactions between human phagocytic cells and fungi, we have developed a method using high-throughput microscopy to efficiently distinguish adherent and engulfed cryptococci and quantitate each population. This method offers significant advantages over currently available means of assaying hostfungal cell interactions, and remains statistically robust when implemented in an automated fashion appropriate for screening. It was used to demonstrate the sensitivity of human phagocytes to subtle changes in the cryptococcal capsule, a major virulence factor of this pathogen. Conclusions/Significance: Our high-throughput method for characterizing interactions between C. neoformans and mammalian phagocytic cells offers a powerful tool for elucidating the relationship between these cell types durin

    The developmental effects of media-ideal internalization and self-objectification processes on adolescents’ negative body-feelings, dietary restraint, and binge eating

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    Despite accumulated experimental evidence of the negative effects of exposure to media-idealized images, the degree to which body image, and eating related disturbances are caused by media portrayals of gendered beauty ideals remains controversial. On the basis of the most up-to-date meta-analysis of experimental studies indicating that media-idealized images have the most harmful and substantial impact on vulnerable individuals regardless of gender (i.e., “internalizers” and “self-objectifiers”), the current longitudinal study examined the direct and mediated links posited in objectification theory among media-ideal internalization, self-objectification, shame and anxiety surrounding the body and appearance, dietary restraint, and binge eating. Data collected from 685 adolescents aged between 14 and 15 at baseline (47 % males), who were interviewed and completed standardized measures annually over a 3-year period, were analyzed using a structural equation modeling approach. Results indicated that media-ideal internalization predicted later thinking and scrutinizing of one’s body from an external observer’s standpoint (or self-objectification), which then predicted later negative emotional experiences related to one’s body and appearance. In turn, these negative emotional experiences predicted subsequent dietary restraint and binge eating, and each of these core features of eating disorders influenced each other. Differences in the strength of these associations across gender were not observed, and all indirect effects were significant. The study provides valuable information about how the cultural values embodied by gendered beauty ideals negatively influence adolescents’ feelings, thoughts and behaviors regarding their own body, and on the complex processes involved in disordered eating. Practical implications are discussed

    Personalisation in MOOCs: a critical literature review

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    The advent and rise of Massive Open Online Courses (MOOCs) have brought many issues to the area of educational technology. Researchers in the field have been addressing these issues such as pedagogical quality of MOOCs, high attrition rates, and sustainability of MOOCs. However, MOOCs personalisation has not been subject of the wide discussions around MOOCs. This paper presents a critical literature survey and analysis of the available literature on personalisation in MOOCs to identify the needs, the current states and efforts to personalise learning in MOOCs. The findings illustrate that there is a growing attention to personalisation to improve learners’ individual learning experiences in MOOCs. In order to implement personalised services, personalised learning path, personalised assessment and feedback, personalised forum thread and recommendation service for related learning materials or learning tasks are commonly applied

    Vegetation Type Dominates the Spatial Variability in CH<inf>4</inf> Emissions Across Multiple Arctic Tundra Landscapes

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    Methane (CH4) emissions from Arctic tundra are an important feedback to global climate. Currently, modelling and predicting CH4 fluxes at broader scales are limited by the challenge of upscaling plot-scale measurements in spatially heterogeneous landscapes, and by uncertainties regarding key controls of CH4 emissions. In this study, CH4 and CO2 fluxes were measured together with a range of environmental variables and detailed vegetation analysis at four sites spanning 300 km latitude from Barrow to Ivotuk (Alaska). We used multiple regression modelling to identify drivers of CH4 flux, and to examine relationships between gross primary productivity (GPP), dissolved organic carbon (DOC) and CH4 fluxes. We found that a highly simplified vegetation classification consisting of just three vegetation types (wet sedge, tussock sedge and other) explained 54% of the variation in CH4 fluxes across the entire transect, performing almost as well as a more complex model including water table, sedge height and soil moisture (explaining 58% of the variation in CH4 fluxes). Substantial CH4 emissions were recorded from tussock sedges in locations even when the water table was lower than 40 cm below the surface, demonstrating the importance of plant-mediated transport. We also found no relationship between instantaneous GPP and CH4 fluxes, suggesting that models should be cautious in assuming a direct relationship between primary production and CH4 emissions. Our findings demonstrate the importance of vegetation as an integrator of processes controlling CH4 emissions in Arctic ecosystems, and provide a simplified framework for upscaling plot scale CH4 flux measurements from Arctic ecosystems

    Pneumocystis murina colonization in immunocompetent surfactant protein A deficient mice following environmental exposure

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    <p>Abstract</p> <p>Background</p> <p><it>Pneumocystis spp</it>. are opportunistic pathogens that cause pneumonia in immunocompromised humans and animals. <it>Pneumocystis </it>colonization has also been detected in immunocompetent hosts and may exacerbate other pulmonary diseases. Surfactant protein A (SP-A) is an innate host defense molecule and plays a role in the host response to <it>Pneumocystis</it>.</p> <p>Methods</p> <p>To analyze the role of SP-A in protecting the immunocompetent host from <it>Pneumocystis </it>colonization, the susceptibility of immunocompetent mice deficient in SP-A (KO) and wild-type (WT) mice to <it>P. murina </it>colonization was analyzed by reverse-transcriptase quantitative PCR (qPCR) and serum antibodies were measured by enzyme-linked immunosorbent assay (ELISA).</p> <p>Results</p> <p>Detection of <it>P. murina </it>specific serum antibodies in immunocompetent WT and KO mice indicated that the both strains of mice had been exposed to <it>P. murina </it>within the animal facility. However, P. <it>murina </it>mRNA was only detected by qPCR in the lungs of the KO mice. The incidence and level of the mRNA expression peaked at 8–10 weeks and declined to undetectable levels by 16–18 weeks. When the mice were immunosuppressed, <it>P. murina </it>cyst forms were also only detected in KO mice. <it>P. murina </it>mRNA was detected in <it>SCID </it>mice that had been exposed to KO mice, demonstrating that the immunocompetent KO mice are capable of transmitting the infection to immunodeficient mice. The pulmonary cellular response appeared to be responsible for the clearance of the colonization. More CD4+ and CD8+ T-cells were recovered from the lungs of immunocompetent KO mice than from WT mice, and the colonization in KO mice depleted CD4+ cells was not cleared.</p> <p>Conclusion</p> <p>These data support an important role for SP-A in protecting the immunocompetent host from <it>P. murina </it>colonization, and provide a model to study <it>Pneumocystis </it>colonization acquired via environmental exposure in humans. The results also illustrate the difficulties in keeping mice from exposure to <it>P. murina </it>even when housed under barrier conditions.</p

    Identidad étnica y redes personales entre jóvenes de Sarajevo

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    After fieldwork conducted among young people in Sarajevo, we found a relation between the discourses sustained by them and the ethnic categories they use to classify people and to identify themselves. Also we have found that people self-affiliated as "Bosnians" play an important role in the network of multiethnic relationships, in which strong ties, surprisingly, are still very important. Finally we found a relationship between the composition of personal networks and the ethnic discourses that are maintained.Después de un trabajo de campo realizado con un grupo de jóvenes en Sarajevo, hemos constatado la existencia de una relación entre los discursos que sostienen y las categorías étnicas que utilizan tanto para clasificar a los demás como para auto-identificarse. Asimismo hemos encontrado que los jóvenes que se autodenominan "Bosnios" juegan un rol importante en la red de relaciones multiétnicas, en la que los lazos fuertes, sorprendentemente, son muy importantes. Finalmente hemos hallado una relación entre la composición de las redes personales y los discursos étnicos que se sostienen. Vivimos, o creemos vivir, en múltiples "comunidades", imaginadas o no. Al mismo tiempo, el individuo y no el lugar, la familia o el grupo, se sitúa en el centro de la vida social y de las comunicaciones (Cf. Wellman, 2001). En este contexto, inducido por el avance del capitalismo flexible (Castells, 1996), pensamos que para entender adecuadamente la identidad o identidades postuladas por los individuos es necesario estudiar las redes personales y su dinámica. Desde esta perspectiva no podemos hablar de "etnias" o "multietnicidad" sin más precisiones, pues son conceptos basados en una concepción esencialista y estática de la identidad individual. El concepto de "sociedad multiétnica" es utilizado de una manera engañosamente progresista y objetiva, pues lo que en realidad legitima es la existencia de diferencias esenciales entre personas, alejando en lugar de acercar. Sin embargo, somos plenamente conscientes que los discursos esencialistas de la identidad étnica son omnipresentes, con enormes efectos políticos e individuales. Que planteemos que la concepción esencialista de la identidad sea inapropiada desde un punto de vista académico, no significa que ésta no se utilice políticamente y por lo tanto tenga consecuencias formidables en las relaciones sociales. Precisamente el estudio de las redes personales nos permite situarnos en una perspectiva que no utiliza con pretensiones analíticas conceptos "folk", como son los de "etnia", "pueblo" o "nación", sino que los sitúa en el terreno de los discursos sustentados por los actores (y los estados y medios de comunicación) y nos permite contextualizarlos mediante conceptos etic, es decir, impuestos por los investigadores. Sólo así podemos superar las tautologías que abundan en los discursos étnicos
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