38 research outputs found

    Patient-centered outcomes: a qualitative exploration of patient experience with electroencephalograms in the Emergency Department

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    The primary objective of this qualitative project was to understand the experience of patients who had first-time seizures and who did, and did not, have electroencephalograms (EEGs) performed in the Emergency Department (ED) as part of their initial evaluation, so as to refine the diagnostic and therapeutic approach to these patients and transform the standard of care for first-time seizures by focusing on outcomes as defined by patient experiences and expectations. In this paper, we show that, regardless of the diagnostic and therapeutic approach patients are given in the ED, patients and caregivers trust that health care providers will perform the standard of care consistent with the current medical practice for first-time seizures. However, performing EEGs in the ED and initiating appropriate anticonvulsant therapy for those patients who are at high risk for future seizures addresses patient needs by offering patients a sense of security and control over their medical condition and expediting appropriate follow up care, as long as clearly stated written diagnostic, treatment, and referral instructions are provided upon discharge

    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

    An optical method for measuring injection timing in diesel engines, using a single port

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    This thesis is the design of a laser-induced fluorescence technique for use in the characterization of the fuel injection delay of various fuels, due to differences in bulk modulus. The technique is designed to work with an operational diesel engine having readily accessible glow-plug ports. The optical adapter designed for use through the glow-plug port is used as both the transmitting port for the excitation signal and the receiving port for the fluorescence signal. The prototype system was installed on a Detroit Diesel 3–53 two-stroke diesel engine. The beginning of the injection cycle is measured by a proximity probe set to detect injector compression to the point where the injector chamber is sealed. The actual entry of fuel into the cylinder is measured using laser induced fluorescence of an organic laser dye seeded fuel, excited by a 532-nm laser. The time/crank angle delay from the start of fuel compression to fuel entry into the cylinder can then be correlated to bulk modulus and cetane number. The combustion event can also be detected using the same optics and its timing correlated with known fuel properties.http://archive.org/details/anopticalmethodf1094544031Lieutenant, United States NavyApproved for public release; distribution is unlimited

    Riparian Review

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    The Rangelands archives are made available by the Society for Range Management and the University of Arizona Libraries. Contact [email protected] for further information.Migrated from OJS platform March 202
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