3,320 research outputs found

    CEDNIK: Phenotypic and molecular characterization of an additional patient and review of the literature

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    Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, mutations in SNAP29 on the nondeleted chromosome are linked to similar ichthyotic and neurological phenotypes. Here, the authors report a patient with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome who presented with global developmental delay, polymicrogyria, dysgenesis of the corpus callosum, optic nerve dysplasia, gaze apraxia, and dysmorphic features. He has developed ichthyosis and palmoplantar keratoderma as he has grown. Exome sequencing identified a homozygous nonsense mutation in SNAP29 gene designated as c.85C>T (p.Arg29X). The authors compare the findings in the proband with previously reported cases. The previously unreported mutation in this patient and his phenotype add to the characterization of cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome and the accumulating scientific evidence that implicates synaptic protein dysfunction in various neuroectodermal conditions

    Colonial Catholicism in British North America: American and Canadian Catholic Identities in the Age of Revolution

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    Thesis advisor: André BrouilletteThesis advisor: Maura Jane FarrellyThe purpose of this thesis is to better understand American colonial Catholicism through a comparative study of it with Catholicism in colonial Canada, both before and after the British defeat of the French in 1759, in the period of the American Revolution. Despite a shared faith, ecclesiastical leaders in Canada were wary of the revolutionary spirit and movement in the American colonies, participated in by American Catholics, and urged loyalty to the British crown. The central question of the study is as follows: why did the two groups, American Catholics (the Maryland Tradition) and Canadian Catholics (the Quebec Tradition), react so differently to British colonial rule in the mid eighteenth-century? Developing an understanding of the religious identities of American and Canadian Catholics and their interaction during the period will help shed light on their different approaches to political ideals of the Enlightenment and their Catholic faithThesis (STL) — Boston College, 2017.Submitted to: Boston College. School of Theology and Ministry.Discipline: Sacred Theology

    Detecting compact binary coalescences with seedless clustering

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    Modeling Multi-Wavelength Stellar Astrometry. I. SIM Lite Observations of Interacting Binaries

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    Interacting binaries consist of a secondary star which fills or is very close to filling its Roche lobe, resulting in accretion onto the primary star, which is often, but not always, a compact object. In many cases, the primary star, secondary star, and the accretion disk can all be significant sources of luminosity. SIM Lite will only measure the photocenter of an astrometric target, and thus determining the true astrometric orbits of such systems will be difficult. We have modified the Eclipsing Light Curve code (Orosz & Hauschildt 2000) to allow us to model the flux-weighted reflex motions of interacting binaries, in a code we call REFLUX. This code gives us sufficient flexibility to investigate nearly every configuration of interacting binary. We find that SIM Lite will be able to determine astrometric orbits for all sufficiently bright interacting binaries where the primary or secondary star dominates the luminosity. For systems where there are multiple components that comprise the spectrum in the optical bandpass accessible to SIM Lite, we find it is possible to obtain absolute masses for both components, although multi-wavelength photometry will be required to disentangle the multiple components. In all cases, SIM Lite will at least yield accurate inclinations, and provide valuable information that will allow us to begin to understand the complex evolution of mass-transferring binaries. It is critical that SIM Lite maintains a multi-wavelength capability to allow for the proper deconvolution of the astrometric orbits in multi-component systems.Comment: 12 pages, 6 figures, 6 tables. Accepted for publication in the Astrophysical Journa

    Community service learning: Preparing female students in the United Arab Emirates for the workplace

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    A learning community where students develop the knowledge, skills and abilities needed for meaningful and successful 21st century work and life is the vision for higher education programs in the Middle East. A successful learning community of faculty members, students, and site supervisors in a variety of community programs are working together to achieve this objective, and are jointly engaged in the pursuit of excellence and the development of human potential. It is Zayed University\u27s goal to assure that students develop the higher-order intellectual capacities and technological skills they will need to succeed in a rapidly changing and increasingly complex world. This chapter describes the model used to meet the challenges faced by first generation female college graduates in the United Arab Emirates, a model that emphasizes community service learning placements and undergraduate research projects. These first generation graduates are also those who are expected to transition into a very conservative work environment. For the majority, community placements provided through this model is the first opportunity through which they are able to have any level of workplace experience. In this chapter we will report on this innovative community service program model experienced by students and will address challenges and successes of this program model which utilizes undergraduate student research, community involvement and the integration of female graduates into the workforce. We will share how this model provided insights into the work experience, as reported in students\u27 journal reflections. An effective service learning program and undergraduate research involvement allowed these graduates to put theory into practice, develop habits of self analysis and reflective thinking, and contribute towards a greater understanding of organizational structures. © 2011, IGI Global

    Long gravitational-wave transients and associated detection strategies for a network of terrestrial interferometers

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    Searches for gravitational waves (GWs) traditionally focus on persistent sources (e.g., pulsars or the stochastic background) or on transients sources (e.g., compact binary inspirals or core-collapse supernovae), which last for time scales of milliseconds to seconds. We explore the possibility of long GW transients with unknown waveforms lasting from many seconds to weeks. We propose a novel analysis technique to bridge the gap between short O(s) “burst” analyses and persistent stochastic analyses. Our technique utilizes frequency-time maps of GW strain cross power between two spatially separated terrestrial GW detectors. The application of our cross power statistic to searches for GW transients is framed as a pattern recognition problem, and we discuss several pattern-recognition techniques. We demonstrate these techniques by recovering simulated GW signals in simulated detector noise. We also recover environmental noise artifacts, thereby demonstrating a novel technique for the identification of such artifacts in GW interferometers. We compare the efficiency of this framework to other techniques such as matched filtering
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