6 resultados para Tony Blair

em Université de Lausanne, Switzerland


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This essay focuses on how Spielberg's film engages with and contributes to the myth of Lincoln as a super-natural figure, a saint more than a hero or great statesman, while anchoring his moral authority in the sentimental rhetoric of the domestic sphere. It is this use of the melodramatic mode, linking the familial space with the national through the trope of the victim-hero, which is the essay's main concern. With Tony Kushner, author of Angels in America, as scriptwriter, it is perhaps not surprising that melodrama is the operative mode in the film. One of the issues that emerge from this analysis is how the film updates melodrama for a contemporary audience in order to minimize what could be perceived as manipulative sentimental devices, observing for most of the film an aesthetic of relative sobriety and realism. In the last hour, and especially the final minutes of the film, melodramatic conventions are deployed in full force and infused with hagiographic iconography to produce a series of emotionally charged moments that create a perfect union of American Civil Religion and classical melodrama. The cornerstone of both cultural paradigms, as deployed in this film, is death: Lincoln's at the hands of an assassin, and the Civil War soldiers', poignantly depicted at key moments of the film. Finally, the essay shows how film melodrama as a genre weaves together the private and the public, the domestic with the national, the familial with the military, and links pathos to politics in a carefully choreographed narrative of sentimentalized mythopoesis.

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Autosomal recessive osteopetrosis (ARO) is a rare genetic bone disease with genotypic and phenotypic heterogeneity, sometimes translating into delayed diagnosis and treatment. In particular, cases of intermediate severity often constitute a diagnostic challenge and represent good candidates for exome sequencing. Here, we describe the tortuous path to identification of the molecular defect in two siblings, in which osteopetrosis diagnosed in early childhood followed a milder course, allowing them to reach the adult age in relatively good conditions with no specific therapy. No clearly pathogenic mutation was identified either with standard amplification and resequencing protocols or with exome sequencing analysis. While evaluating the possible impact of a 3'UTR variant on the TCIRG1 expression, we found a novel single nucleotide change buried in the middle of intron 15 of the TCIRG1 gene, about 150 nucleotides away from the closest canonical splice site. By sequencing a number of independent cDNA clones covering exons 14 to 17, we demonstrated that this mutation reduced splicing efficiency but did not completely abrogate the production of the normal transcript. Prompted by this finding, we sequenced the same genomic region in 33 patients from our unresolved ARO cohort and found three additional novel single nucleotide changes in a similar location and with a predicted disruptive effect on splicing, further confirmed in one of them at the transcript level. Overall, we identified an intronic region in TCIRG1 that seems to be particularly prone to splicing mutations, allowing the production of a small amount of protein sufficient to reduce the severity of the phenotype usually associated with TCIRG1 defects. On this basis, we would recommend including TCIRG1 not only in the molecular work-up of severe infantile osteopetrosis but also in intermediate cases and carefully evaluating the possible effects of intronic changes. © 2015 American Society for Bone and Mineral Research.