34 research outputs found

    Non-Musical Choreographic Inspirations: Choreographic Curriculum Challenges with High School Students

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    For this study a curriculum was designed which encouraged high school students to explore non-musical inspirations for their choreography. The questions of concern in this study were: 1) What are the effects of non-musical inspirations on high school student choreography? 2) What curriculum will be most effective for encouraging student creativity? 3) How will this new curriculum align with national and state curriculum standards? 4) Will students and audiences be emotionally connected to compositions created this way? Students were led through a series of choreographic and improvisational lessons, and at the conclusion of the lessons students rehearsed selected pieces of choreography and performed in a concert. Audience members were asked their thoughts about the performance to gauge if there was a connection to the dance pieces performed, and if they preferred this concert to previous concerts. This study informed the creation of a comprehensive research-based choreography curriculum for a public high school dance program

    Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

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    To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe

    Finishing the euchromatic sequence of the human genome

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    The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

    The genetic architecture of the human cerebral cortex

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    The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder

    Like gold dust these days’: domestic violence fact-finding hearings in child contact cases

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    Fact-finding hearings may be held to determine disputed allegations of domestic violence in child contact cases in England and Wales, and can play a vital role for mothers seeking protection and autonomy from violent fathers. Drawing on the author’s empirical study, this article examines the implications for the holding of fact-finding hearings of judges’ and professionals’ understandings of domestic violence and the extent to which they perceive it to be relevant to contact. While more judges and professionals are developing their understanding of domestic violence, the ambit of when and how it is considered relevant to contact has grown increasingly narrow, which suggests that many disputed allegations of domestic violence are disregarded and women and children continue to be put at risk from violent fathers. This bifurcated approach is likely to have significant implications for recent developments in this area of family law which are considered in this article

    ACCCN national nursing workforce survey of intensive care units

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    A descriptive study was designed and implemented by the Australian College of Critical Care Nurses (ACCCN) Workforce Planning Advisory Committee to capture data pertaining to workforce issues of intensive care nurses. All intensive care units (ICUs) within Australia were mailed a self reporting survey. Despite a low response rate (52 per cent) and difficulty reported by respondents in gaining the appropriate data requested, the results revealed an interesting snapshot of the intensive care nursing workforce.Types of services offered by units varied considerably; paid overtime hours were low (&lt;2 per cent of total hours worked) and use of both part-time and agency staff was also low (10 per cent of total hours worked). Private hospitals utilised a greater proportion of part-time and agency nursing staff than public hospitals (20:10 per cent). The turnover rate for registered nursing staff was estimated at 18 per cent, with education, skill acquisition and improved communication reported as the major incentives used by managers to attract and retain staff. This study demonstrated that valuable data are currently uncaptured and recommends a more refined process of a national database to record and manage this important information for future workforce planning.<br /

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    Self-Induced Vomiting and Subclinical Bulimia Following Gastroplasty Surgery for Morbid Obesity: A Case Description and Report of a Multi-Component Cognitive-Behavioral Treatment Strategy

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    This article presents a case report of an individual who developed a pattern of self‐induced vomiting subsequent to gastroplasty surgery for morbid obesity. A description of the history, symptomatology, and disordered eating pattern is provided along with the clinical outcome from a cognitive‐behavioral intervention. The results are discussed with regard to the need for future evaluation of eating behavior patterns in postgastroplasty patients. It was concluded that the syndrome is similar in many respects to the bulimic pattern observed in normal weight females

    The Library of Integrated Network-Based Cellular Signatures NIH Program: System-Level Cataloging of Human Cells Response to Perturbations

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    The Library of Integrated Network-Based Cellular Signatures (LINCS) is an NIH Common Fund program that catalogs how human cells globally respond to chemical, genetic, and disease perturbations. Resources generated by LINCS include experimental and computational methods, visualization tools, molecular and imaging data, and signatures. By assembling an integrated picture of the range of responses of human cells exposed to many perturbations, the LINCS program aims to better understand human disease and to advance the development of new therapies. Perturbations under study include drugs, genetic perturbations, tissue micro-environments, antibodies, and disease-causing mutations. Responses to perturbations are measured by transcript profiling, mass spectrometry, cell imaging, and biochemical methods, among other assays. The LINCS program focuses on cellular physiology shared among tissues and cell types relevant to an array of diseases, including cancer, heart disease, and neurodegenerative disorders. This Perspective describes LINCS technologies, datasets, tools, and approaches to data accessibility and reusability.The Library of Integrated Network-Based Cellular Signatures (LINCS) is an NIH Common Fund program that catalogs how human cells globally respond to chemical, genetic, and disease perturbations. Resources generated by LINCS include experimental and computational methods, visualization tools, molecular and imaging data, and signatures. By assembling an integrated picture of the range of responses of human cells exposed to many perturbations, the LINCS program aims to better understand human disease and to advance the development of new therapies. Perturbations under study include drugs, genetic perturbations, tissue micro-environments, antibodies, and disease-causing mutations. Responses to perturbations are measured by transcript profiling, mass spectrometry, cell imaging, and biochemical methods, among other assays. The LINCS program focuses on cellular physiology shared among tissues and cell types relevant to an array of diseases, including cancer, heart disease, and neurodegenerative disorders. This Perspective describes LINCS technologies, datasets, tools, and approaches to data accessibility and reusability
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