822 research outputs found

    Sobre el concepto de persona

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    Fil: Pareyson, Luis. Universidad Nacional de Cuy

    Išreiškiantis mąstymas ir apreiškiantis mąstymas

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    La filosofía italiana contemporánea

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    Fil: Pareyson, Luis. Universidad Nacional de Cuy

    Vom Staunen der Vernunft

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    Luigi Pareyson has so far been little known in the German-speaking world, although his works have been translated into many languages, as he is undoubtedly one of the founders of modern philosophical hermeneutics, along with Hans-Georg Gadamer and Paul Ricoeur. Because of his intellectual diversity, he has inspired many of his students, who include Umberto Eco and Gianni Vattimo, and opened up to them a broad spectrum ranging from idealist approaches to hermeneutics and aesthetic theory. The volume provides a diverse but at the same time coherent sketch of important motifs of his philosophy: the main features of his interpretation of Fichte and Schelling, the foundations of his "ontology of freedom," his philosophical hermeneutics of religious experience, the basic lines of his aesthetics, and finally considerations concerning the social function that philosophy would have. Like a common thread, an intellectual attitude of wonder runs through all these contributions. It is the attitude of not fully comprehending human existence and its freedom, the evil in history, the phenomenon of exuberant beauty, the interpretive power of myth, the inevitable otherness of the other and of the self itself. And it is precisely this astonishment that has led people - from the beginning until today - to philosophize

    Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

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    <p>Abstract</p> <p>Background</p> <p>Approximately 20% of adrenoleukodystrophy (X-ALD) female carriers may develop clinical manifestations, typically consisting of progressive spastic gait, sensory deficits and bladder dysfunctions. A skewing in X Chromosome Inactivation (XCI), leading to the preferential expression of the X chromosome carrying the mutant <it>ABCD1 </it>allele, has been proposed as a mechanism influencing X-linked adrenoleukodystrophy (X-ALD) carrier phenotype, but reported data so far are conflicting.</p> <p>Methods</p> <p>To shed light into this topic we assessed the XCI pattern in peripheral blood mononuclear cells (PBMCs) of 30 X-ALD carriers. Since a frequent problem with XCI studies is the underestimation of skewing due to an incomplete sample digestion by restriction enzymes, leading to variable results, we developed a pyrosequencing assay to identify samples completely digested, on which to perform the XCI assay. Pyrosequencing was also used to quantify <it>ABCD1 </it>allele-specific expression. Moreover, very long-chain fatty acid (VLCFA) levels were determined in the same patients.</p> <p>Results</p> <p>We found severely (≥90:10) or moderately (≥75:25) skewed XCI in 23 out of 30 (77%) X-ALD carriers and proved that preferential XCI is mainly associated with the preferential expression of the mutant <it>ABCD1 </it>allele, irrespective of the manifestation of symptoms. The expression of mutant <it>ABCD1 </it>allele also correlates with plasma VLCFA concentrations.</p> <p>Conclusions</p> <p>Our results indicate that preferential XCI leads to the favored expression of the mutant <it>ABCD1 </it>allele. This emerges as a general phenomenon in X-ALD carriers not related to the presence of symptoms. Our data support the postulated growth advantage of cells with the preferential expression of the mutant <it>ABCD1 </it>allele, but argue against the use of XCI pattern, <it>ABCD1 </it>allele-specific expression pattern and VLCFA plasma concentration as biomarkers to predict the development of symptoms in X-ALD carriers.</p
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