345 research outputs found

    A Q-methodology study of parental understandings of infant immunisation: Implications for health-care advice

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    This study used Q-methodology to explore systematically parental judgements about infant immunisation. A total of 45 parents completed a 31-statement Q-sort. Data were collected after vaccination in general practitioner practices or a private day nursery. Q factor analysis revealed four distinct viewpoints: a duty to immunise based on medical benefits, child-orientated protection based on parental belief, concern and distress and surprise at non-compliance. Additionally, there was a common view among parents that they did not regret immunising their children. Implications of these results are discussed in terms of health-care policy and future research

    NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.

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    The identification of neurological disorders by next-generation sequencing (NGS)-based gene panels has helped clinicians understand the underlying physiopathology, resulting in personalized treatment for some rare diseases. While the phenotype of distinct neurogenetic disorders is generally well-known in childhood, in adulthood, the phenotype can be unspecific and make the standard diagnostic approach more complex. Here we present three unrelated adults with various neurological manifestations who were successfully diagnosed using NGS, allowing for the initiation of potentially life-changing treatments. A 63-year-old woman with progressive cognitive decline, pyramidal signs, and bilateral cataract was treated by chenodeoxycholic acid following the diagnosis of cerebrotendinous xanthomatosis due to a homozygous variant in CYP27A1. A 32-year-old man with adult-onset spastic paraplegia, in whom a variant in ABCD1 confirmed an X-linked adrenoleukodystrophy, was treated with corticoids for adrenal insufficiency. The third patient, a 28-year-old woman with early-onset developmental delay, epilepsy, and movement disorders was treated with a ketogenic diet following the identification of a variant in SLC2A1, confirming a glucose transporter type 1 deficiency syndrome. This case study illustrates the challenges in the timely diagnosis of medically actionable neurogenetic conditions, but also the considerable potential for improving patient health through modern sequencing technologies

    Effects of Large CP-violating Soft Phases on Supersymmetric Electroweak Baryogenesis

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    We revisit the results of recent electroweak baryogenesis calculations and include all allowed large CP-violating supersymmetric phases. If the phases are large, the resulting baryon asymmetry can be considerably larger than the observed value nB/s4×1011n_B/s \sim 4 \times 10^{-11}. Much of the asymmetry must therefore be washed out, and we argue that the upper bound on the light Higgs mass is larger than the value reported in previous work.Comment: 15 pages, 3 figure

    Learning Objects, Learning Objectives and Learning Design.

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    Educational research and development into e-learning mainly focuses on the inclusion of new technological features without taking into account psycho-pedagogical concerns that are likely to improve a learner's cognitive process in this new educational category. This paper presents an instructional model that combines objectivist and constructivist learning theories. The model is based on the concept of a learning objective which is composed of a set of learning objects. A software tool, called the Instruction Aid System (IAS), has been developed to guide instructors through the development of learning objectives and the execution of the analysis and design phases of the proposed instructional model. Additionally, a blended approach to the learning process in Web-based distance education is also presented. This approach combines various event-based activities: self-paced learning, live e-learning and the use of face-to-face contact in classrooms

    Mutant screen reveals the Piccolo's control over depression and brain-gonad crosstalk

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    Successful sexual reproduction involves a highly complex, genetically encoded interplay between animal physiology and behavior. Here we developed a screen to identify genes essential for rat reproduction based on an unbiased methodology involving mutagenesis via the Sleeping Beauty transposon. As expected, our screen identified genes where reproductive failure was connected to gametogenesis (Btrc, Pan3, Spaca6, Ube2k) and embryogenesis (Alk3, Exoc6b, Slc1a3, Tmx4, Zmynd8). In addition, our screen identified Atg13 (longevity) Dlg1 and Pclo (neuronal disorders), previously not associated with reproduction. Dominant Pclo traits caused epileptiform activity and affected genes supporting GABAergic synaptic transmission (Gabra6, Gabrg3), and animals exhibited a compromised crosstalk between the brain and gonads via disturbed GnRH signaling. Recessive Pclo traits disrupted conspecific recognition required for courtship/mating and were mapped to allelic markers for major depressive disorder (Grm5, Htr2a, Sorcs3, Negr1, Drd2). Thus, Pclo-deficiency in rats link neural networks controlling sexual motivation to Pclo variants that have been associated with human neurological disorders

    Solar Neutrinos and the Principle of Equivalence

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    We study the proposed solution of the solar neutrino problem which requires a flavor nondiagonal coupling of neutrinos to gravity. We adopt a phenomenological point of view and investigate the consequences of the hypothesis that the neutrino weak interaction eigenstates are linear combinations of the gravitational eigenstates which have slightly different couplings to gravity, f1Gf_1G and f2Gf_2G, f1f2<<1|f_1-f_2| << 1, corresponding to a difference in red-shift between electron and muon neutrinos, Δz/(1+z)f1f2\Delta z/(1+z) \sim |f_1 - f_2|. We perform a χ2\chi^2 analysis of the latest available solar neutrino data and obtain the allowed regions in the space of the relevant parameters. The existing data rule out most of the parameter space which can be probed in solar neutrino experiments, allowing only f1f23×1014|f_1 - f_2| \sim 3 \times 10^{-14} for small values of the mixing angle (2×103sin2(2θG)1022 \times 10^{-3} \le \sin^2(2\theta_G) \le 10^{-2}) and 1016<f1f2<101510^{-16} \stackrel{<}{\sim} |f_1 - f_2| \stackrel{<}{\sim}10^{-15} for large mixing (0.6sin2(2θG)0.90.6 \le \sin^2(2\theta_G) \le 0.9). Measurements of the 8B^8{\rm B}-neutrino energy spectrum in the SNO and Super-Kamiokande experiments will provide stronger constraints independent of all considerations related to solar models. We show that these measurements will be able to exclude part of the allowed region as well as to distinguish between conventional oscillations and oscillations due to the violation of the equivalence principle.Comment: 20 pages + 4 figures, IASSNS-AST 94/5
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