978 resultados para Joan Scott


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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Scott Joplin’s (1867–1917) opera Treemonisha is the only opera in existence about the Reconstruction era African-American experience written by a black man who actually lived through it. This fact alone makes the opera a work of tremendous significance. Further, Joplin’s music is profoundly expressive and as stylistically unique as anything ever created in America. Through his score and libretto, Joplin vividly documented a culture that has left us few other artifacts: The echoes of the “field hollers,” spirituals, fiddle tunes, revival hymns, and ancient African dances of his rural childhood are all heard, along with the dialects of his people rising up from slavery. Yet for all of its obvious significance, Treemonisha has been a deeply misunderstood work. The opera was complex and virtually unprecedented, two reasons why 1910s America could not embrace it. And tragically, Joplin's original 1911 materials for the opera were almost entirely destroyed in the early 1960s. In the early 1970s several attempts were made to reconstruct it, but for the most part these were not concerned with the opera’s cultural origins or historic authenticity. But now, on the centennial of this extraordinary creation, comes this new recording of a completely authentic reconstruction of Treemonisha by Rick Benjamin, based on eighteen years of research.

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Faciogenital dysplasia or Aarskog-Scott syndrome (AAS) is an X-linked disorder characterized by craniofacial, skeletal, and urogenital malformations and short stature. Mutations in the only known causative gene FGD1 are found in about one-fifth of the cases with the clinical diagnosis of AAS. FGD1 is a guanine nucleotide exchange factor (GEF) that specifically activates the Rho GTPase Cdc42 via its RhoGEF domain. The Cdc42 pathway is involved in skeletal formation and multiple aspects of neuronal development. We describe a boy with typical AAS and, in addition, unilateral focal polymicrogyria (PMG), a feature hitherto unreported in AAS. Sequencing of the FGD1 gene in the index case and his mother revealed the presence of a novel mutation (1396A>G; M466V), located in the evolutionary conserved alpha-helix 4 of the RhoGEF domain. M466V was not found in healthy family members, in >300 healthy controls and AAS patients, and has not been reported in the literature or mutation databases to date, indicating that this novel missense mutation causes AAS, and possibly PMG. Brain cortex malformations such as PMG could be initiated by mutations in the evolutionary conserved RhoGEF domain of FGD1, by perturbing the signaling via Rho GTPases such as Cdc42 known to cause brain malformation.

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BACKGROUND: We have carried out an extensive qualitative research program focused on the barriers and facilitators to successful adoption and use of various features of advanced, state-of-the-art electronic health records (EHRs) within large, academic, teaching facilities with long-standing EHR research and development programs. We have recently begun investigating smaller, community hospitals and out-patient clinics that rely on commercially-available EHRs. We sought to assess whether the current generation of commercially-available EHRs are capable of providing the clinical knowledge management features, functions, tools, and techniques required to deliver and maintain the clinical decision support (CDS) interventions required to support the recently defined "meaningful use" criteria. METHODS: We developed and fielded a 17-question survey to representatives from nine commercially available EHR vendors and four leading internally developed EHRs. The first part of the survey asked basic questions about the vendor's EHR. The second part asked specifically about the CDS-related system tools and capabilities that each vendor provides. The final section asked about clinical content. RESULTS: All of the vendors and institutions have multiple modules capable of providing clinical decision support interventions to clinicians. The majority of the systems were capable of performing almost all of the key knowledge management functions we identified. CONCLUSION: If these well-designed commercially-available systems are coupled with the other key socio-technical concepts required for safe and effective EHR implementation and use, and organizations have access to implementable clinical knowledge, we expect that the transformation of the healthcare enterprise that so many have predicted, is achievable using commercially-available, state-of-the-art EHRs.

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opera et studio Joan. Henrici Zopfii

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In Fraktur

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Signatur des Originals: S 36/F01826