1,000 research outputs found

    Don’t Forget the Laptop: Using Native Input Capabilities for Expressive Musical Control

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    We draw on our experiences with the Princeton Laptop Orchestra to discuss novel uses of the laptop’s native physical inputs for flexible and expressive control. We argue that instruments designed using these built-in inputs offer benefits over custom standalone controllers, particularly in certain group performance settings; creatively thinking about native capabilities can lead to interesting and unique new interfaces. We discuss a variety of example instruments that use the laptop’s native capabilities and suggest avenues for future work. We also describe a new toolkit for rapidly experimenting with these capabilities

    Competition between normal and intruder states inside the "Island of Inversion"

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    The beta decay of the exotic 30Ne (N=20) is reported. For the first time, the low-energy level structure of the N=19, 30Na (Tz = 4), is obtained from beta-delayed gamma spectroscopy using fragment-beta-gamma-gamma coincidences. The level structure clearly displays "inversion", i.e., intruder states with mainly 2p2h configurations displacing the normal states to higher excitation energies. The good agreement in excitation energies and the weak and electromagnetic decay patterns with Monte Carlo Shell Model calculations with the SDPF-M interaction in the sdpf valence space illustrates the small d3/2 - f7/2 shell gap. The relative position of the "normal dominant" and "intruder dominant" excited states provides valuable information to understand better the N=20 shell gap.Comment: 4 pages, 5 figure

    Using self-management to control seizures

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    The aim of this study was to develop, deliver and evaluate the impact of an education intervention regarding lifestyle self-management in the control of seizures, health related quality of life (HRQoL), satisfaction with life and resilience for adults with epilepsy

    Disease-specific, neurosphere-derived cells as models for brain disorders

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    There is a pressing need for patient-derived cell models of brain diseases that are relevant and robust enough to produce the large quantities of cells required for molecular and functional analyses. We describe here a new cell model based on patient-derived cells from the human olfactory mucosa, the organ of smell, which regenerates throughout life from neural stem cells. Olfactory mucosa biopsies were obtained from healthy controls and patients with either schizophrenia, a neurodevelopmental psychiatric disorder, or Parkinson's disease, a neurodegenerative disease. Biopsies were dissociated and grown as neurospheres in defined medium. Neurosphere-derived cell lines were grown in serum-containing medium as adherent monolayers and stored frozen. By comparing 42 patient and control cell lines we demonstrated significant disease-specific alterations in gene expression, protein expression and cell function, including dysregulated neurodevelopmental pathways in schizophrenia and dysregulated mitochondrial function, oxidative stress and xenobiotic metabolism in Parkinson's disease. The study has identified new candidate genes and cell pathways for future investigation. Fibroblasts from schizophrenia patients did not show these differences. Olfactory neurosphere-derived cells have many advantages over embryonic stem cells and induced pluripotent stem cells as models for brain diseases. They do not require genetic reprogramming and they can be obtained from adults with complex genetic diseases. They will be useful for understanding disease aetiology, for diagnostics and for drug discovery

    Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment

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    Background: Rett disorder (RD) is a progressive neurodevelopmental entity caused by mutations in the MECP2 gene. It has been postulated that there are alterations in the levels of certain neurotransmitters and folate in the pathogenesis of this disease. Here we re-evaluated this hypothesis. Patients and methods: We evaluated CSF folate, biogenic amines and pterines in 25 RD patients. Treatment with oral folinic acid was started in those cases with low folate. Patients were clinically evaluated and videotaped up to 6 months after therapy. Results: CSF folate was below the reference values in 32% of the patients. Six months after treatment no clinical improvement was observed. Three of the four patients with the R294X mutation had increased levels of a dopamine metabolite associated to a particular phenotype. Three patients had low levels of a serotonin metabolite. Two of them were treated with fluoxetine and one showed clinical improvement. No association was observed between CSF folate and these metabolites, after adjusting for the patients age and neopterin levels. Conclusion: Our results support that folinic acid supplementation has no significant effects on the course of the disease. We report discrete and novel neurotransmitter abnormalities that may contribute to the pathogenesis of RD highlighting the need for further studies on CSF neurotransmitters in clinically and genetically well characterized patients.Research in Rett syndrome is supported by FSE/FEDER and Fundação para a Ciência e Tecnologia (FCT, Portugal), Grant No. POCTI 41416/2001

    Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertension

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    <p>Abstract</p> <p>Background</p> <p>Copy-number variations (CNVs) are structural variations in the genome involving 1 kb to 3 mb of DNA. CNV has been reported within intron 1 of the <it>BMPR2 </it>gene. We propose that CNV could affect phenotype in familial and/or sporadic pulmonary arterial hypertension (PAH) by altering gene expression.</p> <p>Methods</p> <p>97 human DNA samples were obtained which included 24 patients with familial PAH, 18 obligate carriers (<it>BMPR2 </it>mutation positive), 20 sporadic PAH patients, and 35 controls. Two sets of primers were designed within the CNV, and two sets of control primers were designed outside the CNV. Quantitative PCR was performed to quantify genomic copies of CNV and control sequences.</p> <p>Results</p> <p>A CNV in <it>BMPR2 </it>was present in one African American negative control subject.</p> <p>Conclusion</p> <p>We conclude that the CNV in intron 1 in <it>BMPR2 </it>is unlikely to play a role in the pathogenesis of either familial or sporadic PAH.</p> <p>Trial Registration</p> <p>NIH NCT00091546.</p

    Extensive Copy-Number Variation of Young Genes across Stickleback Populations

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    MM received funding from the Max Planck innovation funds for this project. PGDF was supported by a Marie Curie European Reintegration Grant (proposal nr 270891). CE was supported by German Science Foundation grants (DFG, EI 841/4-1 and EI 841/6-1). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript

    Change Point Estimation in Monitoring Survival Time

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    Precise identification of the time when a change in a hospital outcome has occurred enables clinical experts to search for a potential special cause more effectively. In this paper, we develop change point estimation methods for survival time of a clinical procedure in the presence of patient mix in a Bayesian framework. We apply Bayesian hierarchical models to formulate the change point where there exists a step change in the mean survival time of patients who underwent cardiac surgery. The data are right censored since the monitoring is conducted over a limited follow-up period. We capture the effect of risk factors prior to the surgery using a Weibull accelerated failure time regression model. Markov Chain Monte Carlo is used to obtain posterior distributions of the change point parameters including location and magnitude of changes and also corresponding probabilistic intervals and inferences. The performance of the Bayesian estimator is investigated through simulations and the result shows that precise estimates can be obtained when they are used in conjunction with the risk-adjusted survival time CUSUM control charts for different magnitude scenarios. The proposed estimator shows a better performance where a longer follow-up period, censoring time, is applied. In comparison with the alternative built-in CUSUM estimator, more accurate and precise estimates are obtained by the Bayesian estimator. These superiorities are enhanced when probability quantification, flexibility and generalizability of the Bayesian change point detection model are also considered
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