Clinical outcome of SARS-CoV-2 infection in 7 adults with Duchenne muscular dystrophy attending a specialist neuromuscular centre

Due to their frailty and cardiorespiratory compromise adults with DMD are considered extremely vulnerable and at high risk of severe infection should they contract COVID-19. We report 7 adults with DMD aged 17–26 years who tested positive on a nasopharyngeal PCR swab for SARS-CoV-2. Despite long term corticosteroid treatment, severe respiratory compromise requiring night-time ventilation and receiving treatment for moderate to severe cardiomyopathy, none of the patients developed moderate to severe symptoms; in fact two remained asymptomatic and two developed only anosmia and reduced sensation. The remaining three developed transient fever with or without sore throat, cough and runny nose. All recovered fully without complication and no patient required hospitalization

Audiodescripción de referentes culturales: estudio descriptivo-comparativo y de recepción

La audiodescripción (AD) entendida como un servicio de apoyo a la comunicación con personas ciegas o con baja visión está adquiriendo cada vez más importancia profesional, social y académica. Las cifras actuales de programas que se ofrecen con AD en la televisión española, los congresos y seminarios sobre AD que se celebran en todo el mundo y el avance legislativo en materia de accesibilidad dan buena cuenta de ello. La accesibilidad reivindica su lugar en los Estudios sobre Traducción (y más concretamente, sobre Traducción Audiovisual) y aunque el interés investigador es bastante reciente, sobre todo en España, también es prolífica y ha abordado con profundidad numerosos aspectos específicos tanto del contenido conceptual como de la forma lingüística de la práctica audiodescriptora. La gran mayoría de los trabajos publicados han sido, hasta hace poco, de corte descriptivista. Y aunque indispensables, actualmente es necesario llevar a cabo estudios que corroboren o, al contrario, desestimen las conclusiones a las que se han llegado en dichos estudios descriptivos (Braun, 2008: 22-23). Los estudios de recepción están destinados a ocupar un lugar privilegiado en la investigación en Traducción Audiovisual, y muy concretamente en la investigación sobre accesibilidad, puesto que son los destinatarios de la audiodescripción o de la subtitulación para sordos, por ejemplo, los que han de expresarse y decir (e incluso exigir) cómo deberían ser los productos audiovisuales que les están dirigidos a ellos. Los estudios sobre AD alternativas, no convencionales (Fryer y Freeman, 2012 y 2013; Udo y Fels, 2009a y 2009b; Udo, Acevedo y Fels, 2010) cobran especial importancia para esta tesis, ya que se adentran directamente en la investigación de preferencias y expectativas de los usuarios, algo en lo que pretendemos dar nuestros primeros pasos. Los estudios de recepción sobre preferencias y expectativas del colectivo de personas ciegas o con baja visión son escasos en España, ya que los realizados hasta este momento se centran esencialmente en la evaluación de distintos aspectos de la comprensión o impacto emocional. Esta tesis presenta dos estudios distintos pero complementarios que confluyen en la consecución de un único objetivo: promover la visibilidad del colectivo de personas ciegas o con baja visión, de sus necesidades y expectativas en materia de accesibilidad audiovisual. Para ello, pretendemos demostrar que la ubicación geográfica, cultural y lingüística de los agentes intervinientes en la AD, condicionan, si no determinan, el resultado de esta, entendida como proceso y como producto; y que las decisiones del descriptor se adecuan a las expectativas de sus receptores meta. Para ello, y con carácter previo, se determinan tres objetivos preliminares que suponen la base teórica y práctica necesaria para abordar el estudio experimental que conforma el núcleo duro de la presente tesis. Perseguimos, en un primer momento, describir el panorama actual de la audiodescripción en España, revisar la literatura académica que hasta hoy se ha publicado sobre audiodescripción y establecer un perfil del receptor medio de la audiodescripción en España. A continuación, la presente tesis se articula en dos partes fundamentales y complementarias. Cada estudio persigue un objetivo principal. Por una parte, la finalidad del estudio descriptivo es analizar y evaluar el elemento cultural presente en la audiodescripción de películas en dos lenguas y para dos audiencias meta distintas. Para ello se identifican, analizan, comparan y describen las técnicas de traducción empleadas para describir referentes culturales. Por otra parte, el objetivo del estudio de recepción o experimental consiste en determinar si las AD que se realizan en la actualidad en España se adecuan a las preferencias y expectativas de los usuarios y, en su caso, proponer directrices o recomendaciones para la audiodescripción de referentes culturales en España

Histological and immunological correlates of suspected leprosy lesions

Thirty-two subjects with suspected leprosy lesions were investigated to assess various modalities of sensibility and sweatfunction and these were correlated with immunological and histological parameters. It was found that pain and temperature, mediated by small unmyelinated fibres were impaired in the early lesions. Impairment of sweat function was seen only when one of the modalities of sensibility was also affected Antibodies specific to a protein (35 kDa) antigen and phenolic glycolipid 1 of Mycobacterium leprae were positive in nine and 12 cases respectively, while 15 of the 31 biopsies revealed the presence of mycobacterial antigens in these lesions. The implications of these findings are discussed

Cosmological models with bulk viscosity in presence of adiabatic matter creation and with G, c and Lambda variables

Some properties of cosmological models with a time variable bulk viscous coefficient in presence of adiabatic mater creation and G, c, Lambda variables are investigated in the framework of flat FRW line element. We trivially find a set of solutions through Dimensional Analysis. In all the studied cases it is found that the behaviour of these constants is inversely prportional to the cosmic time.Comment: 12 pages. We have been rewriting and completing the bibliography of this paper. Submitted to General Relativity and Gravitatio

Nonlinear spinor field in Bianchi type-I Universe filled with viscous fluid: numerical solutions

We consider a system of nonlinear spinor and a Bianchi type I gravitational fields in presence of viscous fluid. The nonlinear term in the spinor field Lagrangian is chosen to be $\lambda F$, with $\lambda$ being a self-coupling constant and $F$ being a function of the invariants $I$ an $J$ constructed from bilinear spinor forms $S$ and $P$. Self-consistent solutions to the spinor and BI gravitational field equations are obtained in terms of $\tau$, where $\tau$ is the volume scale of BI universe. System of equations for $\tau$ and \ve, where \ve is the energy of the viscous fluid, is deduced. This system is solved numerically for some special cases.Comment: 15 pages, 4 figure

A Wide and Deep Neural Network for Survival Analysis from Anatomical Shape and Tabular Clinical Data

We introduce a wide and deep neural network for prediction of progression from patients with mild cognitive impairment to Alzheimer's disease. Information from anatomical shape and tabular clinical data (demographics, biomarkers) are fused in a single neural network. The network is invariant to shape transformations and avoids the need to identify point correspondences between shapes. To account for right censored time-to-event data, i.e., when it is only known that a patient did not develop Alzheimer's disease up to a particular time point, we employ a loss commonly used in survival analysis. Our network is trained end-to-end to combine information from a patient's hippocampus shape and clinical biomarkers. Our experiments on data from the Alzheimer's Disease Neuroimaging Initiative demonstrate that our proposed model is able to learn a shape descriptor that augments clinical biomarkers and outperforms a deep neural network on shape alone and a linear model on common clinical biomarkers.Comment: Data and Machine Learning Advances with Multiple Views Workshop, ECML-PKDD 201

Brain Tumor Segmentation and Tractographic Feature Extraction from Structural MR Images for Overall Survival Prediction

This paper introduces a novel methodology to integrate human brain connectomics and parcellation for brain tumor segmentation and survival prediction. For segmentation, we utilize an existing brain parcellation atlas in the MNI152 1mm space and map this parcellation to each individual subject data. We use deep neural network architectures together with hard negative mining to achieve the final voxel level classification. For survival prediction, we present a new method for combining features from connectomics data, brain parcellation information, and the brain tumor mask. We leverage the average connectome information from the Human Connectome Project and map each subject brain volume onto this common connectome space. From this, we compute tractographic features that describe potential neural disruptions due to the brain tumor. These features are then used to predict the overall survival of the subjects. The main novelty in the proposed methods is the use of normalized brain parcellation data and tractography data from the human connectome project for analyzing MR images for segmentation and survival prediction. Experimental results are reported on the BraTS2018 dataset.Comment: 14 pages, 5 figures, 4 tables, accepted by BrainLes 2018 MICCAI worksho

Adolescent brain maturation and cortical folding: evidence for reductions in gyrification

Evidence from anatomical and functional imaging studies have highlighted major modifications of cortical circuits during adolescence. These include reductions of gray matter (GM), increases in the myelination of cortico-cortical connections and changes in the architecture of large-scale cortical networks. It is currently unclear, however, how the ongoing developmental processes impact upon the folding of the cerebral cortex and how changes in gyrification relate to maturation of GM/WM-volume, thickness and surface area. In the current study, we acquired high-resolution (3 Tesla) magnetic resonance imaging (MRI) data from 79 healthy subjects (34 males and 45 females) between the ages of 12 and 23 years and performed whole brain analysis of cortical folding patterns with the gyrification index (GI). In addition to GI-values, we obtained estimates of cortical thickness, surface area, GM and white matter (WM) volume which permitted correlations with changes in gyrification. Our data show pronounced and widespread reductions in GI-values during adolescence in several cortical regions which include precentral, temporal and frontal areas. Decreases in gyrification overlap only partially with changes in the thickness, volume and surface of GM and were characterized overall by a linear developmental trajectory. Our data suggest that the observed reductions in GI-values represent an additional, important modification of the cerebral cortex during late brain maturation which may be related to cognitive development

Identification of shared genetic variants between schizophrenia and lung cancer.

Epidemiology studies suggest associations between schizophrenia and cancer. However, the underlying genetic mechanisms are not well understood, and difficult to identify from epidemiological data. We investigated if there is a shared genetic architecture between schizophrenia and cancer, with the aim to identify specific overlapping genetic loci. First, we performed genome-wide enrichment analysis and second, we analyzed specific loci jointly associated with schizophrenia and cancer by the conjunction false discovery rate. We analyzed the largest genome-wide association studies of schizophrenia and lung, breast, prostate, ovary, and colon-rectum cancer including more than 220,000 subjects, and included genetic association with smoking behavior. Polygenic enrichment of associations with lung cancer was observed in schizophrenia, and weak enrichment for the remaining cancer sites. After excluding the major histocompatibility complex region, we identified three independent loci jointly associated with schizophrenia and lung cancer. The strongest association included nicotinic acetylcholine receptors and is an established pleiotropic locus shared between lung cancer and smoking. The two other loci were independent of genetic association with smoking. Functional analysis identified downstream pleiotropic effects on epigenetics and gene-expression in lung and brain tissue. These findings suggest that genetic factors may explain partly the observed epidemiological association of lung cancer and schizophrenia

Spatial band-pass filtering aids decoding musical genres from auditory cortex 7T fMRI

Spatial filtering strategies, combined with multivariate decoding analysis of BOLD images, have been used to investigate the nature of the neural signal underlying the discriminability of brain activity patterns evoked by sensory stimulation – primarily in the visual cortex. Previous research indicates that such signals are spatially broadband in nature, and are not primarily comprised of fine-grained activation patterns. However, it is unclear whether this is a general property of the BOLD signal, or whether it is specific to the details of employed analyses and stimuli. Here we applied an analysis strategy from a previous study on decoding visual orientation from V1 to publicly available, high-resolution 7T fMRI on the response BOLD response to musical genres in primary auditory cortex. The results show that the pattern of decoding accuracies with respect to different types and levels of spatial filtering is comparable to that obtained from V1, despite considerable differences in the respective cortical circuitry