226 research outputs found

    Canine NAPEPLD-associated models of human myelin disorders

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    Canine leukoencephalomyelopathy (LEMP) is a juvenile-onset neurodegenerative disorder of the CNS white matter currently described in Rottweiler and Leonberger dogs. Genome-wide association study (GWAS) allowed us to map LEMP in a Leonberger cohort to dog chromosome 18. Subsequent whole genome re-sequencing of a Leonberger case enabled the identification of a single private homozygous non-synonymous missense variant located in the highly conserved metallo-beta-lactamase domain of the N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD) gene, encoding an enzyme of the endocannabinoid system. We then sequenced this gene in LEMP-affected Rottweilers and identified a different frameshift variant, which is predicted to replace the C-terminal metallo-beta-lactamase domain of the wild type protein. Haplotype analysis of SNP array genotypes revealed that the frameshift variant was present in diverse haplotypes in Rottweilers, and also in Great Danes, indicating an old origin of this second NAPEPLD variant. The identification of different NAPEPLD variants in dog breeds affected by leukoencephalopathies with heterogeneous pathological features, implicates the NAPEPLD enzyme as important in myelin homeostasis, and suggests a novel candidate gene for myelination disorders in people

    Canine NAPEPLD-associated models of human myelin disorders

    Get PDF
    Canine leukoencephalomyelopathy (LEMP) is a juvenile-onset neurodegenerative disorder of the CNS white matter currently described in Rottweiler and Leonberger dogs. Genome-wide association study (GWAS) allowed us to map LEMP in a Leonberger cohort to dog chromosome 18. Subsequent whole genome re-sequencing of a Leonberger case enabled the identification of a single private homozygous non-synonymous missense variant located in the highly conserved metallo-beta-lactamase domain of the N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD) gene, encoding an enzyme of the endocannabinoid system. We then sequenced this gene in LEMP-affected Rottweilers and identified a different frameshift variant, which is predicted to replace the C-terminal metallo-beta-lactamase domain of the wild type protein. Haplotype analysis of SNP array genotypes revealed that the frameshift variant was present in diverse haplotypes in Rottweilers, and also in Great Danes, indicating an old origin of this second NAPEPLD variant. The identification of different NAPEPLD variants in dog breeds affected by leukoencephalopathies with heterogeneous pathological features, implicates the NAPEPLD enzyme as important in myelin homeostasis, and suggests a novel candidate gene for myelination disorders in people.</p

    In-Home Training for Fathers of Children with Autism: A Follow up Study and Evaluation of Four Individual Training Components

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    Literature regarding fathers of children with autism remains sparse, and because mothers are the more common intervening parent, few training methods have focused on fathers. Thus, we sought to evaluate effects of in-home training directed at fathers and their ability to train mothers in the same manner in which they were trained. Fathers were taught four skills commonly associated with in-home training interventions for parents of children with autism: following the child’s lead, imitation with animation, commenting on the child, and expectant waiting. Father skills were evaluated twice a week for 12 weeks during videotaped in-home father–child play sessions. Analyses included visual inspection of graphed data and statistical analyses of father skill acquisition, mother skill acquisition, and child behaviors with both parents. A multivariate repeated measures analysis of 18 dyads revealed significant increases in frequencies of fathers’ imitation with animation, expectant waiting, and commenting on the child. Child initiating rates increased significantly as did frequencies of child non-speech vocalizations. Analysis of mothers revealed significant increases in frequencies of imitation with animation, expectant waiting, and following the child’s lead. Child behaviors had similar results for father and mother sessions. Findings are consistent with those from our first study indicating that fathers can effectively implement skills that promote father–child social interactions and that children respond positively to this approach

    Investigating variation in replicability

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    Although replication is a central tenet of science, direct replications are rare in psychology. This research tested variation in the replicability of 13 classic and contemporary effects across 36 independent samples totaling 6,344 participants. In the aggregate, 10 effects replicated consistently. One effect – imagined contact reducing prejudice – showed weak support for replicability. And two effects – flag priming influencing conservatism and currency priming influencing system justification – did not replicate. We compared whether the conditions such as lab versus online or US versus international sample predicted effect magnitudes. By and large they did not. The results of this small sample of effects suggest that replicability is more dependent on the effect itself than on the sample and setting used to investigate the effect

    Anti‑predatory chemical defences in Antarctic benthic fauna

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    Antarctic benthic communities are largely structured by predation, which leads to the development of mechanisms of repellence. Among those mechanisms, chemical defences are quite extensive, yet poorly understood. To increase knowledge about the role of chemical defences in the Southern Ocean ecosystems, we assessed the incidence of feeding repellents in sessile and vagile invertebrates from nine phyla: Porifera, Cnidaria, Nemertea, Annelida, Mollusca, Bryozoa, Echinodermata, Hemichordata, and Tunicata (Ascidiacea). Samples were collected at depths of 120–789 m in the eastern Weddell Sea and Bouvet Island, and at depths ranging 0–100 m in the South Shetland Islands. When possible, specimens were dissected to study anatomical allocation of repellents. The common, eurybathic sea star Odontaster validus was chosen to perform feeding repellence bioassays, using diethyl ether (lipophilic) and butanol (hydrophilic) extracts from these samples. Among the 75 species tested, 52 % were studied for the first time for anti-predatory properties. Results provide further evidence of the prevalence of defensive metabolites in Antarctic organisms, with 47 % of the species exhibiting significant repellence within their lipophilic extracts. They also suggest a wider use of nonpolar defensive chemicals. Sessile taxa displayed highest repellence activities, with ascidians, cnidarians, and sponges being the most chemically protected. Overall, the present study indicates that natural products by mediating trophic interactions between prey and their potential predators play an important role in structuring Antarctic benthic ecosystems.Versión del editor2,011

    Deliberating Animal Values: a Pragmatic-Pluralistic Approach to Animal Ethics.

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    Debates in animal ethics are largely characterized by ethical monism, the search for a single, timeless, and essential trait in which the moral standing of animals can be grounded. In this paper, we argue that a monistic approach towards animal ethics hampers and oversimplifies the moral debate. The value pluralism present in our contemporary societies requires a more open and flexible approach to moral inquiry. This paper advocates the turn to a pragmatic, pluralistic approach to animal ethics. It contributes to the development of such an approach in two ways. It offers a pragmatist critique of ethical monism in animal ethics and presents the results of a qualitative study into the value diversity present in the different ways of thinking about animals in the Netherlands. Carefully arranged group discussions resulted in the reconstruction of four distinctive moral value frameworks that may serve as instruments in the future process of moral inquiry and deliberation in the reflection on animal use. © 2010 The Author(s)

    Ethical communication and intercultural responsibility: a philosophical perspective

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    The ethical dimension of dialogue represents a major concern in the context of current research in intercultural responsibility. In this paper, I discuss the modalities in which the notion of competence is used to conceptualise responsibility and the relationship between self and other in intercultural research, in order to critique the Cartesian presuppositions of intercultural communication theory. I argue that models of competence and responsibility that are employed to design intercultural training operate within the paradigm of the autonomous rational agent that informs Kantian ethical thinking. I contrast the model of the competent intercultural speaker that emerges in intercultural research with the distinction proposed by Levinas between the saying and the said (le dire and le dit, meaning the event of speech and the content of speech), to suggest two scenarios of intercultural interaction that show two different approaches to responsibility, one operating in the dimension of the said and the other in the dimension of the saying. Thus, in this paper, I discuss the implications of Levinas's reflection on the nature of language for the development of an ethical framework that addresses the limitations of current conceptualisations in intercultural communication theory of competence and responsibility
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