9 research outputs found

    Electroencephalographic and epilepsy findings in mecp2 duplication syndrome. A family study

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    MECP2 duplication syndrome (MECP2 DS) is an X-linked disorder characterized by early-onset hypotonia, poor speech development, recurrent respiratory infections, epilepsy and progressive spasticity. Epilepsy occurs in more than 50% of the affected patients. Generalized tonic-clonic seizures (GTCS) are the most common seizure-type described but atonic seizures, absences and myoclonic seizures have also been reported. Electroencephalographic (EEG) and seizure types occurring in MECP2 DS have been poorly investigated. Here we report on two male siblings carrying a maternally-inherited MECP2 duplication. Patients underwent several EEG recordings and long-lasting video-EEG monitoring. The most represented seizure types were myoclonic and atonic seizures. GTCS were rarely observed. In patients, we found a slowing of the background activity with multifocal paroxysmal activity, prominent on the frontal areas. In conclusion, our observations seem to suggest that MECP2 syndrome seem to have a peculiar epileptic pattern mainly characterized by the occurrence of myoclonic seizures, the recognition of which is important in order to undertake an appropriate treatment

    Oxidative stress in epilepsy

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    Introduction: The brain is particularly susceptible to oxidative stress being the most aerobically active organ in the body due to its high metabolic demands. There is evidence that neuronal hyperexcitability and oxidative injury produced by an excessive production of free radicals may play a role in the initiation and progression of epilepsy. Understanding the role of oxidative stress in epileptogenesis is essential to delineate appropriate therapeutic strategies. Neuroprotectant or antioxidant compounds may exert positive effects when associated with antiepileptic drugs (AEDs). Areas covered: This review aims to outline the current state of knowledge on the relationship between oxidative stress and epilepsy. The role of neuroprotectants in the therapeutic strategy to prevent or treating epilepsy is also discussed. PubMed/Medline database was searched for relevant articles on the relation between oxidative stress and epilepsy and on antioxidant strategies for epilepsy management. Expert commentary: Therapeutic intervention with antioxidants may represent a key strategy to counteract the epilepsy-related neurodegenerative process. However, in spite of the incredible development of new drugs for epilepsy treatment, definitive evidence about the neuroprotective ability of the existing compounds is still lacking. Therefore, there is great need for clinical trials to evaluate new antioxidant compounds specifically on epileptic patients

    Analysis of Vortex Induced Vibration of a Thermowell by High Fidelity FSI Numerical Analysis Based on RBF Structural Modes Embedding

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    The present paper addresses the numerical fluid-structure interaction (FSI) analysis of a thermowell immersed in a water flow. The study was carried out implementing a modal superposition approach into a computational fluid dynamics (CFD) solver. The core of the procedure consists in embedding the structural natural modes, computed by a finite element analysis (FEA), by means of a mesh morphing tool based on radial basis functions (RBF). In order to minimize the distortion during the morphing action and to obtain a high quality of the mesh, a set of corrective solutions, that allowed the achievement of a sliding morphing on the duct surface, was introduced. The obtained numerical results were compared with experimental data, providing a satisfying agreement and demonstrating that the modal approach, with an adequate mesh morphing setup, is able to tackle unsteady FSI problems with the accuracy needed for industrial applications

    Advanced radial basis functions mesh morphing for high fidelity fluid-structure interaction with known movement of the walls: simulation of an aortic valve

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    High fidelity Fluid-Structure Interaction (FSI) can be tackled by means of non-linear Finite Element Models (FEM) suitable to capture large deflections of structural parts interacting with fluids and by means of detailed Computational Fluid Dynamics (CFD). High fidelity is gained thanks to the spatial resolution of the computational grids and a key enabler to have a proper exchange of information between the structural solver and the fluid one is the management of the interfaces. A class of applications consists in problems where the complex movement of the walls is known in advance or can be computed by FEM and has to be transferred to the CFD solver. The aforementioned approach, known also as one-way FSI, requires effective methods for the time marching adaption of the computation grid of the CFD model. A versatile and well established approach consists in a continuum update of the mesh that is regenerated so to fit the evolution of the moving walls. In this study, an innovative method based on Radial Basis Functions (RBF) mesh morphing is proposed, allowing to keep the same mesh topology suitable for a continuum update of the shape. A set of key configurations are exactly guaranteed whilst time interpolation is adopted between frames. The new framework is detailed and then demonstrated, adopting as a reference the established approach based on remeshing, for the study of a Polymeric-Prosthetic Heart Valve (P-PHV)
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