65 research outputs found

    Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.

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    Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests primarily as a progressive skeletal dysplasia. Spinal involvement is a major cause of morbidity and mortality in MPS IVA. Early diagnosis and timely treatment of problems involving the spine are critical in preventing or arresting neurological deterioration and loss of function. This review details the spinal manifestations of MPS IVA and describes the tools used to diagnose and monitor spinal involvement. The relative utility of radiography, computed tomography (CT) and magnetic resonance imaging (MRI) for the evaluation of cervical spine instability, stenosis, and cord compression is discussed. Surgical interventions, anaesthetic considerations, and the use of neurophysiological monitoring during procedures performed under general anaesthesia are reviewed. Recommendations for regular radiological imaging and neurologic assessments are presented, and the need for a more standardized approach for evaluating and managing spinal involvement in MPS IVA is addressed

    Cytogerontology since 1881: A reappraisal of August Weismann and a review of modern progress

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    Cytogerontology, the science of cellular ageing, originated in 1881 with the prediction by August Weismann that the somatic cells of higher animals have limited division potential. Weismann's prediction was derived by considering the role of natural selection in regulating the duration of an organism's life. For various reasons, Weismann's ideas on ageing fell into neglect following his death in 1914, and cytogerontology has only reappeared as a major research area following the demonstration by Hayflick and Moorhead in the early 1960s that diploid human fibroblasts are restricted to a finite number of divisions in vitro. In this review we give a detailed account of Weismann's theory, and we reveal that his ideas were both more extensive in their scope and more pertinent to current research than is generally recognised. We also appraise the progress which has been made over the past hundred years in investigating the causes of ageing, with particular emphasis being given to (i) the evolution of ageing, and (ii) ageing at the cellular level. We critically assess the current state of knowledge in these areas and recommend a series of points as primary targets for future research

    A Comparison of Stress Levels, Coping Styles and Psychological Morbidity Between Graduate-entry and Traditional Undergraduate Medical Students During the First 2 Years at a UK Medical School.

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    Background: Stress levels and psychological morbidity are high among undergraduate medical students (UGs), but there is a lack of research into the psychological health of UK graduate-entry medical students (GEs). GEs are likely to experience different (perhaps more severe) stressors and to cope with stress differently. We compared stress levels, psychological morbidity and coping styles in GE versus UG medical students studying at the same UK medical school in the same academic year. Method: A cross-sectional self-rated questionnaire study of all first- and second-year GE and UG medical students. Perceived stress, psychological morbidity, recent adverse life events, stress-related personality traits and coping styles were assessed using standard questionnaires. Results: 75% GEs and 46% UGs responded to the questionnaire. Both groups reported equally high levels, and similar profiles of, perceived stress and psychological morbidity. Levels of recent adverse life events and stress-related personality traits were similar in both groups. Compared to UGs, GEs were more likely to use active coping (p = 0.02) and positive reframing (p = 0.03), but were also more likely to use substances (alcohol and other drugs; p < 0.001) to help them cope. Unlike UGs, second-year GEs showed less perceived stress (p = 0.007) and psychological morbidity (p = 0.006) than first-year GEs although levels of both were still high. Conclusion: Our results show that both GE students and their younger UG counterparts on a traditional medical course have similar profiles of stress symptoms. They do, however, cope with stress differently. GEs are more likely to use active problem-focused coping strategies, and they are also more likely to cope by using substances (alcohol or other drugs). GE students need interventions to prevent maladaptive coping styles and encourage adaptive coping that are tailored to their needs. Such interventions should be targeted at first-year students. It is vital that these students develop positive coping skills to benefit them during training and in a future career that is inherently stressful

    SUSY Renormalization Group Effects in Ultra High Energy Neutrinos

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    We have explored the question of whether the renormalization group running of the neutrino mixing parameters in the Minimal Supersymmetric Standard Model is detectable with ultra-high energy neutrinos from active galactic nuclei (AGN). We use as observables the ratios of neutrino fluxes produced at the AGN, focusing on four different neutrino production models: (Φνe+νˉe0:Φνμ+νˉμ0:Φντ+νˉτ0)(\Phi_{\nu_e+\bar{\nu}_e}^0 : \Phi_{\nu_\mu+\bar{\nu}_\mu}^0 : \Phi_{\nu_\tau+\bar{\nu}_\tau}^0) = (1:2:0), (0:1:0), (1:0:0), and (1:1:0). The prospects for observing deviations experimentally are taken into consideration, and we find out that it is necessary to impose a cut-off on the transferred momentum of Q2107Q^2 \geq 10^7 GeV2^2. However, this condition, together with the expected low value of the diffuse AGN neutrino flux, yields a negligible event rate at a km-scale Cherenkov detector such as IceCube.Comment: 26 pages, 9 figures. Version accepted for publication in JHE

    Fostering support for non-democratic rule? Controlled political liberalization and popular support for non-democratic regimes

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    When the Cold War ended, many non-democratic regimes across the globe embarked on a course of controlled political liberalization, hoping to stabilize their autocratic rule by mitigating popular demands for democratization and increasing regime legitimacy. But does this strategy actually work? This article uses multi-level analyses to examine how the degree of political liberalization affects regime support in non-democratic political systems and to ascertain which mechanisms underlie this effect. Drawing on aggregate measures of political liberalization and comparative survey data from four regional survey projects and 31 non-democracies, the study's results indicate that the degree of liberalization has no decisively positive effect on regime support, suggesting controlled political liberalization might not be an effective legitimizing strategy after all.Nach Ende des Kalten Krieges haben viele nicht-demokratische Regime weltweit einen Kurs der begrenzten politischen Öffnung eingeschlagen, um öffentliche Forderungen nach Demokratisierung zu entschärfen und auf diese Weise die Legitimität ihrer autokratischen Herrschaft zu erhöhen. Doch ist diese Strategie tatsächlich effektiv? Der Beitrag verwendet Mehrebenenanalysen, um zu untersuchen wie der Grad an politischer Öffnung die Regimerunterstützung in nicht-demokratischen politischen Systemen beeinflusst. Auf Basis von Aggregatmaßen zur politischen Öffnung und Individualdaten aus vier regionalen Umfrageprojekten und 31 Autokratien kann kein klarer positiver Effekt des Grads der politischen Öffnung auf die Regimeunterstützung nachgewiesen werden, was eine begrenzte politische Öffnung als wenig effektive Legitimationsstrategie erscheinen lässt

    Dark Matter in the Milky Way's Dwarf Spheroidal Satellites

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    The Milky Way's dwarf spheroidal satellites include the nearest, smallest and least luminous galaxies known. They also exhibit the largest discrepancies between dynamical and luminous masses. This article reviews the development of empirical constraints on the structure and kinematics of dSph stellar populations and discusses how this phenomenology translates into constraints on the amount and distribution of dark matter within dSphs. Some implications for cosmology and the particle nature of dark matter are discussed, and some topics/questions for future study are identified.Comment: A version with full-resolution figures is available at http://www.cfa.harvard.edu/~mwalker/mwdsph_review.pdf; 70 pages, 22 figures; invited review article to be published in Vol. 5 of the book "Planets, Stars, and Stellar Systems", published by Springe

    Quantum Spacetime Phenomenology

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    I review the current status of phenomenological programs inspired by quantum-spacetime research. I stress in particular the significance of results establishing that certain data analyses provide sensitivity to effects introduced genuinely at the Planck scale. And my main focus is on phenomenological programs that managed to affect the directions taken by studies of quantum-spacetime theories.Comment: 125 pages, LaTex. This V2 is updated and more detailed than the V1, particularly for quantum-spacetime phenomenology. The main text of this V2 is about 25% more than the main text of the V1. Reference list roughly double
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