385 research outputs found

    Diagnostic and therapeutic aspects of hemiplegic migraine

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    Hemiplegic migraine (HM) is a clinically and genetically heterogeneous condition with attacks of headache and motor weakness which may be associated with impaired consciousness, cerebellar ataxia and intellectual disability. Motor symptoms usually last <72 hours and are associated with visual or sensory manifestations, speech impairment or brainstem aura. HM can occur as a sporadic HM or familiar HM with an autosomal dominant mode of inheritance. Mutations in CACNA1A, ATP1A2 and SCN1A encoding proteins involved in ion transport are implicated. The pathophysiology of HM is close to the process of typical migraine with aura, but appearing with a lower threshold and more severity. We reviewed epidemiology, clinical presentation, diagnostic assessment, differential diagnosis and treatment of HM to offer the best evidence of this rare condition. The differential diagnosis of HM is broad, including other types of migraine and any condition that can cause transitory neurological signs and symptoms. Neuroimaging, cerebrospinal fluid analysis and electroencephalography are useful, but the diagnosis is clinical with a genetic confirmation. The management relies on the control of triggering factors and even hospitalisation in case of long-lasting auras. As HM is a rare condition, there are no randomised controlled trials, but the evidence for the treatment comes from small studies

    Unified Dark Matter models with fast transition

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    We investigate the general properties of Unified Dark Matter (UDM) fluid models where the pressure and the energy density are linked by a barotropic equation of state (EoS) p=p(ρ)p = p(\rho) and the perturbations are adiabatic. The EoS is assumed to admit a future attractor that acts as an effective cosmological constant, while asymptotically in the past the pressure is negligible. UDM models of the dark sector are appealing because they evade the so-called "coincidence problem" and "predict" what can be interpreted as wDE≈−1w_{\rm DE} \approx -1, but in general suffer the effects of a non-negligible Jeans scale that wreak havoc in the evolution of perturbations, causing a large Integrated Sachs-Wolfe effect and/or changing structure formation at small scales. Typically, observational constraints are violated, unless the parameters of the UDM model are tuned to make it indistinguishable from Λ\LambdaCDM. Here we show how this problem can be avoided, studying in detail the functional form of the Jeans scale in adiabatic UDM perturbations and introducing a class of models with a fast transition between an early Einstein-de Sitter CDM-like era and a later Λ\LambdaCDM-like phase. If the transition is fast enough, these models may exhibit satisfactory structure formation and CMB fluctuations. To consider a concrete case, we introduce a toy UDM model and show that it can predict CMB and matter power spectra that are in agreement with observations for a wide range of parameter values.Comment: 30 pages, 15 figures, JHEP3 style, typos corrected; it matches the published versio

    Twenty years of experience in juvenile nasopharyngeal angiofibroma (JNA) preoperative endovascular embolization: An effective procedure with a low complications rate

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    Juvenile nasopharyngeal angiofibroma (JNA) is a benign tumor of the nasal cavity that predominantly affects young boys. Surgical removal remains the gold standard for the management of this disease. Preoperative intra-arterial embolization (PIAE) is useful for reductions in intraoperative blood loss and surgical complications. In our series of 79 patients who underwent preoperative embolization from 1999 to 2020, demographics, procedural aspects, surgical management and follow-up outcome were analyzed. Embolization was performed in a similar fashion for all patients, with a superselective microcatheterization of external carotid artery (ECA) feeders and an injection of polyvinyl alcohol (PVA) particles, followed, in some cases, by the deployment of coils. Procedural success was reached in 100% of cases, with no complications such as bleeding or thromboembolic occlusion, and surgical intraoperative blood loss was significantly decreased. In conclusion, PIAE is a safe and effective technique in JNA treatment, minimizing intraoperative bleeding

    Functional analysis of missense variants in the TRESK (KCNK18) K+ channel

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    A loss of function mutation in the TRESK K2P potassium channel (KCNK18), has recently been linked with typical familial migraine with aura. We now report the functional characterisation of additional TRESK channel missense variants identified in unrelated patients. Several variants either had no apparent functional effect, or they caused a reduction in channel activity. However, the C110R variant was found to cause a complete loss of TRESK function, yet is present in both sporadic migraine and control cohorts, and no variation in KCNK18 copy number was found. Thus despite the previously identified association between loss of TRESK channel activity and migraine in a large multigenerational pedigree, this finding indicates that a single non-functional TRESK variant is not alone sufficient to cause typical migraine and highlights the genetic complexity of this disorder

    WriteSim TCExam - An open source text simulation environment for training novice researchers in scientific writing

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    BACKGROUND: The ability to write clearly and effectively is of central importance to the scientific enterprise. Encouraged by the success of simulation environments in other biomedical sciences, we developed WriteSim TCExam, an open-source, Web-based, textual simulation environment for teaching effective writing techniques to novice researchers. We shortlisted and modified an existing open source application - TCExam to serve as a textual simulation environment. After testing usability internally in our team, we conducted formal field usability studies with novice researchers. These were followed by formal surveys with researchers fitting the role of administrators and users (novice researchers) RESULTS: The development process was guided by feedback from usability tests within our research team. Online surveys and formal studies, involving members of the Research on Research group and selected novice researchers, show that the application is user-friendly. Additionally it has been used to train 25 novice researchers in scientific writing to date and has generated encouraging results. CONCLUSION: WriteSim TCExam is the first Web-based, open-source textual simulation environment designed to complement traditional scientific writing instruction. While initial reviews by students and educators have been positive, a formal study is needed to measure its benefits in comparison to standard instructional methods

    Surface-enhanced Raman scattering measurement from a lipid bilayer encapsulating a single decahedral nanoparticle mediated by an optical trap

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    We present a new technique for the study of model membranes on the length-scale of a single nanosized liposome. Silver decahedral nanoparticles have been encapsulated by a model unilamellar lipid bilayer creating nano-sized lipid vesicles. The metal core has two roles (i) increasing the polarizability of vesicles, enabling a single vesicle to be isolated and confined in an optical trap, and (ii) enhancing Raman scattering from the bilayer, via the high surface-plasmon field at the sharp vertices of the decahedral particles. Combined this has allowed us to measure a Raman fingerprint from a single vesicle of 50 nmdiameter, containing just ∌104 lipid molecules in a bilayer membrane over a surface area of <0.01 ”m2, equivalent to a volume of approximately 1 zepto-litre. Raman scattering is a weak and inefficient process and previous studies have required either a substantially larger bilayer area in order to obtain a detectable signal, or the tagging of lipid molecules with a chromophore to provide an indirect probe of the bilayer. Our approach is fully label-free and bio-compatible and, in the future, it will enable much more localized studies of the heterogeneous structure of lipid bilayers and of membrane-bound components than is currently possible

    Scientific writing: a randomized controlled trial comparing standard and on-line instruction

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    <p>Abstract</p> <p>Background</p> <p>Writing plays a central role in the communication of scientific ideas and is therefore a key aspect in researcher education, ultimately determining the success and long-term sustainability of their careers. Despite the growing popularity of e-learning, we are not aware of any existing study comparing on-line vs. traditional classroom-based methods for teaching scientific writing.</p> <p>Methods</p> <p>Forty eight participants from a medical, nursing and physiotherapy background from US and Brazil were randomly assigned to two groups (n = 24 per group): An on-line writing workshop group (on-line group), in which participants used virtual communication, google docs and standard writing templates, and a standard writing guidance training (standard group) where participants received standard instruction without the aid of virtual communication and writing templates. Two outcomes, manuscript quality was assessed using the scores obtained in Six subgroup analysis scale as the primary outcome measure, and satisfaction scores with Likert scale were evaluated. To control for observer variability, inter-observer reliability was assessed using Fleiss's kappa. A post-hoc analysis comparing rates of communication between mentors and participants was performed. Nonparametric tests were used to assess intervention efficacy.</p> <p>Results</p> <p>Excellent inter-observer reliability among three reviewers was found, with an Intraclass Correlation Coefficient (ICC) agreement = 0.931882 and ICC consistency = 0.932485. On-line group had better overall manuscript quality (p = 0.0017, SSQSavg score 75.3 ± 14.21, ranging from 37 to 94) compared to the standard group (47.27 ± 14.64, ranging from 20 to 72). Participant satisfaction was higher in the on-line group (4.3 ± 0.73) compared to the standard group (3.09 ± 1.11) (p = 0.001). The standard group also had fewer communication events compared to the on-line group (0.91 ± 0.81 vs. 2.05 ± 1.23; p = 0.0219).</p> <p>Conclusion</p> <p>Our protocol for on-line scientific writing instruction is better than standard face-to-face instruction in terms of writing quality and student satisfaction. Future studies should evaluate the protocol efficacy in larger longitudinal cohorts involving participants from different languages.</p

    Hunting for Primordial Non-Gaussianity in the Cosmic Microwave Background

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    Since the first limit on the (local) primordial non-Gaussianity parameter, fNL, was obtained from COBE data in 2002, observations of the CMB have been playing a central role in constraining the amplitudes of various forms of non-Gaussianity in primordial fluctuations. The current 68% limit from the 7-year WMAP data is fNL=32+/-21, and the Planck satellite is expected to reduce the uncertainty by a factor of four in a few years from now. If fNL>>1 is found by Planck with high statistical significance, all single-field models of inflation would be ruled out. Moreover, if the Planck satellite finds fNL=30, then it would be able to test a broad class of multi-field models using the four-point function (trispectrum) test of tauNL>=(6fNL/5)^2. In this article, we review the methods (optimal estimator), results (WMAP 7-year), and challenges (secondary anisotropy, second-order effect, and foreground) of measuring primordial non-Gaussianity from the CMB data, present a science case for the trispectrum, and conclude with future prospects.Comment: 33 pages, 4 figures. Invited review, accepted for publication in the CQG special issue on nonlinear cosmological perturbations. (v2) References added. More clarifications are added to the second-order effect and the multi-field consistency relation, tauNL>=(6fNL/5)^2

    Planck 2015 results. XXVII. The Second Planck Catalogue of Sunyaev-Zeldovich Sources

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    We present the all-sky Planck catalogue of Sunyaev-Zeldovich (SZ) sources detected from the 29 month full-mission data. The catalogue (PSZ2) is the largest SZ-selected sample of galaxy clusters yet produced and the deepest all-sky catalogue of galaxy clusters. It contains 1653 detections, of which 1203 are confirmed clusters with identified counterparts in external data-sets, and is the first SZ-selected cluster survey containing > 10310^3 confirmed clusters. We present a detailed analysis of the survey selection function in terms of its completeness and statistical reliability, placing a lower limit of 83% on the purity. Using simulations, we find that the Y5R500 estimates are robust to pressure-profile variation and beam systematics, but accurate conversion to Y500 requires. the use of prior information on the cluster extent. We describe the multi-wavelength search for counterparts in ancillary data, which makes use of radio, microwave, infra-red, optical and X-ray data-sets, and which places emphasis on the robustness of the counterpart match. We discuss the physical properties of the new sample and identify a population of low-redshift X-ray under- luminous clusters revealed by SZ selection. These objects appear in optical and SZ surveys with consistent properties for their mass, but are almost absent from ROSAT X-ray selected samples
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