3 research outputs found

    Abstracts from the Food Allergy and Anaphylaxis Meeting 2016

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    O Capitao-do-mato

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    Orientador: Cecília Maria WestphalenDissertaçao (mestrado) -Universidade Federal do Paraná. Curso de Pós-Graduaçao em HistóriaSommaire: Le présent travail se "référa au capitao-do-roato" L'activité spécifique de ce personnage fut captursr les esclaves fugitifs, moyennant une somme pré-deterrainée. Les capitâes-do-roato, au commencement de la colonisation du Brésil, agissaient pour compte propre ou par ordre des senhores de engenho, car il n'y avait pas de regiementation officielle pour part de la Couronne portugaise! ii et, par conséquent, des autorités colonialleSj qui autorisaient l'exercice de la profession. Avec l'accroissement du numéro d'esclaves, les fuites et les abus, apparaissent des Regimentos, qui vont réglementer l'exercice de l'activité de ce chasseur de captifs fugitifs ou de nègres groupés en quilombos. La tentative est montrer les aos pects généraux des diverses formes de surveillance qui ont agi au Brésil de 1650 à 1823 et, en suite, montrer comme le capitão-do-mato apparu officiellement dans le scénario brésilien,ayant comme contexte le système esclavagiste. On tente aussi montrer dans quelle mesure le capitãp- rio-mato fut instrument de répression et, jusqu'à quel point son agissement fut significatif. Ceci dit, il se fait nécessaire de répondre aux s questions: quels appelatifs usés pour designer le capitãodo- mato? Quels étaient les individus qui se prêtaient à ce service? Comment, où e pour qui il agissait? A partir de ces enquêtes, on est arrivé au résultat qui se suit. (Traduit par Maria Antonieta C. P. Eduardo

    Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

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    The introduction of rapid exome sequencing (rES) for critically ill neonates admitted to the neonatal intensive care unit has made it possible to impact clinical decision-making. Unbiased prospective studies to quantify the impact of rES over routine genetic testing are, however, scarce. We performed a clinical utility study to compare rES to conventional genetic diagnostic workup for critically ill neonates with suspected genetic disorders. In a multicenter prospective parallel cohort study involving five Dutch NICUs, we performed rES in parallel to routine genetic testing for 60 neonates with a suspected genetic disorder and monitored diagnostic yield and the time to diagnosis. To assess the economic impact of rES, healthcare resource use was collected for all neonates. rES detected more conclusive genetic diagnoses than routine genetic testing (20% vs. 10%, respectively), in a significantly shorter time to diagnosis (15 days (95% CI 10–20) vs. 59 days (95% CI 23–98, p < 0.001)). Moreover, rES reduced genetic diagnostic costs by 1.5% (€85 per neonate). Conclusion: Our findings demonstrate the clinical utility of rES for critically ill neonates based on increased diagnostic yield, shorter time to diagnosis, and net healthcare savings. Our observations warrant the widespread implementation of rES as first-tier genetic test in critically ill neonates with disorders of suspected genetic origin.What is Known:• Rapid exome sequencing (rES) enables diagnosing rare genetic disorders in a fast and reliable manner, but retrospective studies with neonates admitted to the neonatal intensive care unit (NICU) indicated that genetic disorders are likely underdiagnosed as rES is not routinely used.• Scenario modeling for implementation of rES for neonates with presumed genetic disorders indicated an expected increase in costs associated with genetic testing.What is New:• This unique prospective national clinical utility study of rES in a NICU setting shows that rES obtained more and faster diagnoses than conventional genetic tests.• Implementation of rES as replacement for all other genetic tests does not increase healthcare costs but in fact leads to a reduction in healthcare costs
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