Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1

Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration. It is a rare and fatal disease with an early onset in infancy in the majority of the cases. The main clinical features are muscular atrophy and diaphragmatic palsy, which requires prompt and permanent supportive ventilation. The human disease is recapitulated in the neuromuscular degeneration (nmd) mouse. No effective treatment is available yet, but novel therapeutical approaches tested on the nmd mouse, such as the use of neurotrophic factors and stem cell therapy, have shown positive effects. Gene therapy demonstrated effectiveness in SMA, being now at the stage of clinical trial in patients and therefore representing a possible treatment for SMARD1 as well. The significant advancement in understanding of both SMARD1 clinical spectrum and molecular mechanisms makes ground for a rapid translation of pre-clinical therapeutic strategies in humans

Utilisation des TIC dans le domaine de l’autisme pour favoriser la communication et la reconnaissance des émotions

Ce mémoire vise à analyser l’utilisation des nouvelles technologies auprès des enfants atteints d’un trouble du spectre autistique. L’accent est particulièrement mis sur les facteurs qui contribuent à l’amélioration des habiletés communicatives et émotionnelles, en rapport principalement à trois technologies, les appareils à synthèse vocale, les ordinateurs ainsi que les tablettes numériques et tactiles. Cette étude ce focalise sur la compréhension des facteurs facilitant l’amélioration de ces deux habiletés ainsi que sur les limites de ces technologies. Pour répondre à nos questionnements, nous nous sommes basés sur trois entretiens exploratoires et sur une analyse de la littérature scientifique. Notre analyse a aussi mentionné deux autres technologies : la réalité virtuelle et la robotique dans le but de présenter aussi des technologies innovantes moins connues dans le traitement de ce trouble. Les principaux résultats de ce mémoire démontrent comment ces habiletés peuvent être améliorées grâce à l’utilisation des nouvelles technologies. Un point important ressorti dans cette analyse est l’aspect novateur des tablettes en ce qui concerne les bénéfices pour les personnes avec un trouble du spectre autistique (TSA). Cela contribue à mettre en évidence la nécessité d’approfondir les recherches traitant ces utilisations avec la création de nouvelles études scientifiques

Beyond infertility: obstetrical and postpartum complications associated with endometriosis and adenomyosis

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Marrow, James, Pictorial Invention in Netherlandish manuscript illumination of the late Middle Ages: The Play of Illusion and Meaning, Corpus of Illuminated Manuscripts, vol. 16, (Low Countries Series 11, ed. by Jan Van der Stock) Uitgeverej Peeters, Pari

Marrow, James, Pictorial Invention in Netherlandish manuscript illumination of the late Middle Ages: The Play of Illusion and Meaning, Corpus of Illuminated Manuscripts, vol. 16, (Low Countries Series 11, ed. by Jan Van der Stock) Uitgeverej Peeters, Paris- Leuven-Dudley, MA, 2005; 54 pp.Â

Aurell, Jaume, Tendencias historiográficas del siglo XX, editorial Globo, Santiago de Chile, 2009, 193 pp

Aurell, Jaume, Tendencias historiográficas del siglo XX, editorial Globo, Santiago de Chile, 2009, 193 ppÂ

Discontinuous Galerkin for the heterodimer model of prion dynamics in Parkinson's disease

Neurodegenerative diseases have a significant global impact affecting millions of individuals worldwide. Some of them, known as proteinopathies, are characterized by the accumulation and propagation of toxic proteins, known as prions. Alzheimer's and Parkinson's diseases are relevant of protheinopathies. Mathematical models of prion dynamics play a crucial role in understanding disease progression and could be of help to potential interventions. This article focuses on the heterodimer model: a system of two partial differential equations that describe the evolution of healthy and misfolded proteins. In particular, we propose a space discretization based on a Discontinuous Galerkin method on polygonal/polyhedral grids, which provides flexibility in handling meshes of complex brain geometries. Concerning the semi-discrete formulation we prove stability and a-priori error estimates. Next, we adopt a $\vartheta$-method scheme for time discretization. Some convergence tests are performed to confirm the theoretical bounds and the ability of the method to approximate travelling wave solutions. The proposed scheme is also tested to simulate the spread of $\alpha$-synuclein in a realistic test case of Parkinson's disease in a two-dimensional sagittal brain section geometry reconstructed from medical images