20 research outputs found

    Rastros : Registro y proceso como ejes relacionales en la construcción de obra

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    Esta tesis se realiza con la intención de generar nuevas reflexiones desde la producción artística a través de la elaboración de un análisis sobre el proceso de creación de obra. Se hace hincapié tanto en la experiencia de la ejecución - comenzando por su argumentación, sus diferentes ejes motivadores, hipótesis o primeras imágenes- como en la exposición del material resultante. Tomando la propia producción como muestra y la conclusión reflexiva como resultado, se efectuó ejecutando un amplio sistema de registros del proceso, que fue utilizado como herramienta de investigación y elemento compositivo central. Por lo tanto, se comprende un concepto de obra de arte como práctica propiamente procesual y objeto artístico -en los casos en que existiera- como mero producto de descarte de dicho proceso. Teniendo en cuenta la idea en la cual una obra nunca está del todo acabada, sino que se encuentra en un constante proceso, de acuerdo a su relación con el contexto y en las diferentes - e inevitables- alteraciones a través del paso del tiempo. Como así también de los cambios culturales que modifican nuestra percepción y por lo tanto su interpretación. Como diría Umberto Eco, «La obra es aquí “abierta”, como es “abierto” un debate: la solución es esperada y deseada, pero debe venir del concurso consciente del público. La apertura se hace instrumento de pedagogía revolucionaria» (p. 83).Facultad de Arte

    Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

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    Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1.5, susceptibility genes remain largely unknown. Here we performed a genome-wide association meta-analysis comprising 2,820 unrelated cases with BrS and 10,001 controls, and identified 21 association signals at 12 loci (10 new). Single nucleotide polymorphism (SNP)-heritability estimates indicate a strong polygenic influence. Polygenic risk score analyses based on the 21 susceptibility variants demonstrate varying cumulative contribution of common risk alleles among different patient subgroups, as well as genetic associations with cardiac electrical traits and disorders in the general population. The predominance of cardiac transcription factor loci indicates that transcriptional regulation is a key feature of BrS pathogenesis. Furthermore, functional studies conducted on MAPRE2, encoding the microtubule plus-end binding protein EB2, point to microtubule-related trafficking effects on NaV1.5 expression as a new underlying molecular mechanism. Taken together, these findings broaden our understanding of the genetic architecture of BrS and provide new insights into its molecular underpinnings

    Intracranial Aneurysm Classifier Using Phenotypic Factors: An International Pooled Analysis

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    Intracranial aneurysms (IAs) are usually asymptomatic with a low risk of rupture, but consequences of aneurysmal subarachnoid hemorrhage (aSAH) are severe. Identifying IAs at risk of rupture has important clinical and socio-economic consequences. The goal of this study was to assess the effect of patient and IA characteristics on the likelihood of IA being diagnosed incidentally versus ruptured. Patients were recruited at 21 international centers. Seven phenotypic patient characteristics and three IA characteristics were recorded. The analyzed cohort included 7992 patients. Multivariate analysis demonstrated that: (1) IA location is the strongest factor associated with IA rupture status at diagnosis; (2) Risk factor awareness (hypertension, smoking) increases the likelihood of being diagnosed with unruptured IA; (3) Patients with ruptured IAs in high-risk locations tend to be older, and their IAs are smaller; (4) Smokers with ruptured IAs tend to be younger, and their IAs are larger; (5) Female patients with ruptured IAs tend to be older, and their IAs are smaller; (6) IA size and age at rupture correlate. The assessment of associations regarding patient and IA characteristics with IA rupture allows us to refine IA disease models and provide data to develop risk instruments for clinicians to support personalized decision-making

    The Irish DNA Atlas: Revealing Fine-Scale Population Structure and History within Ireland

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    The extent of population structure within Ireland is largely unknown, as is the impact of historical migrations. Here we illustrate fine-scale genetic structure across Ireland that follows geographic boundaries and present evidence of admixture events into Ireland. Utilising the ‘Irish DNA Atlas’, a cohort (n = 194) of Irish individuals with four generations of ancestry linked to specific regions in Ireland, in combination with 2,039 individuals from the Peoples of the British Isles dataset, we show that the Irish population can be divided in 10 distinct geographically stratified genetic clusters; seven of ‘Gaelic’ Irish ancestry, and three of shared Irish-British ancestry. In addition we observe a major genetic barrier to the north of Ireland in Ulster. Using a reference of 6,760 European individuals and two ancient Irish genomes, we demonstrate high levels of North-West French-like and West Norwegian-like ancestry within Ireland. We show that that our ‘Gaelic’ Irish clusters present homogenous levels of ancient Irish ancestries. We additionally detect admixture events that provide evidence of Norse-Viking gene flow into Ireland, and reflect the Ulster Plantations. Our work informs both on Irish history, as well as the study of Mendelian and complex disease genetics involving populations of Irish ancestry

    La renta del petróleo en Argentina: un ensayo preliminar

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    Las regalías han sido causa de enfrentamiento político entre provincias y Nación. Dichos enfrentamientos culminaron en juicios, ventilados en la Suprema Corte de Justicia. Las regalías han estado así mismo presentes como un factor expresamente señalado, en la profunda reforma del sector, que culmina con la transferencia de YPF a capitales privados. Ante la magnitud de la cuestión, una revisión de los conceptos pareció oportuna. En el trabajo se revisará la noción de regalía, tal como es aplicada en Argentina a los hidrocarburos (es decir al petróleo y al gas natural). El trabajo se propone diferenciar el significado particular que el término regalía cobró en la actividad petrolífera en Argentina, en contraste con el sentido que se le da en otros países, y por lo tanto, en la legislación y en la literatura.Facultad de Ciencias Económica

    Eur J Hum Genet

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    The study of the genetic structure of different countries within Europe has provided significant insights into their demographic history and population structure. Although France occupies a particular location at the western part of Europe and at the crossroads of migration routes, few population genetic studies have been conducted so far with genome-wide data. In this study, we analyzed SNP-chip genetic data from 2184 individuals born in France who were enrolled in two independent population cohorts. Using FineSTRUCTURE, six different genetic clusters of individuals were found that were very consistent between the two cohorts. These clusters correspond closely to geographic, historical, and linguistic divisions of France, and contain different proportions of ancestry from Stone and Bronze Age populations. By modeling the relationship between genetics and geography using EEMS, we were able to detect gene flow barriers that are similar across the two cohorts and correspond to major rivers and mountain ranges. Estimations of effective population sizes also revealed very similar patterns in both cohorts with a rapid increase of effective population sizes over the last 150 generations similar to other European countries. A marked bottleneck is also consistently seen in the two datasets starting in the 14th century when the Black Death raged in Europe. In conclusion, by performing the first exhaustive study of the genetic structure of France, we fill a gap in genetic studies of Europe that will be useful to medical geneticists, historians, and archeologists
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