Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability, stereotyped movements, and recurrent pulmonary infections. We report on standardized brain magnetic resonance imaging (MRI) data of 30 affected patients carrying an Xq28 duplication involving MECP2 of various sizes (228 kb to 11.7 Mb). The aim of this study was to seek recurrent malformations and attempt to determine whether variations in imaging features could be explained by differences in the size of the duplications. We showed that 93% of patients had brain MRI abnormalities such as corpus callosum abnormalities (n = 20), reduced volume of the white matter (WM) (n = 12), ventricular dilatation (n = 9), abnormal increased hyperintensities on T2-weighted images involving posterior periventricular WM (n = 6), and vermis hypoplasia (n = 5). The occipitofrontal circumference varied considerably between >+2SD in five patients and <-2SD in four patients. Among the nine patients with dilatation of the lateral ventricles, six had a duplication involving L1CAM. The only patient harboring bilateral posterior subependymal nodular heterotopia also carried an FLNA gene duplication. We could not demonstrate a correlation between periventricular WM hyperintensities/delayed myelination and duplication of the IKBKG gene. We thus conclude that patients with an Xq28 duplication involving MECP2 share some similar but non-specific brain abnormalities. These imaging features, therefore, could not constitute a diagnostic clue. The genotype-phenotype correlation failed to demonstrate a relationship between the presence of nodular heterotopia, ventricular dilatation, WM abnormalities, and the presence of FLNA, L1CAM, or IKBKG, respectively, in the duplicated segment.

Packaging and Deployment of Large Planar Spacecraft Structures

This thesis presents a set of novel methods to biaxially package planar structures by folding and wrapping. The structure is divided into strips connected by folds that can slip during wrapping to accommodate material thickness. These packaging schemes are highly efficient, with theoretical packaging efficiencies approaching 100%. Packaging tests on meter-scale physical models have demonstrated packaging efficiencies of up to 83%. These methods avoid permanent deformation of the structure, allowing an initially flat structure to be deployed to a flat state.

Also presented are structural architectures and deployment schemes that are compatible with these packaging methods. These structural architectures use either in-plane pretension -- suitable for membrane structures -- or out-of-plane bending stiffness to resist loading. Physical models are constructed to realize these structural architectures. The deployment of these types of structures is shown to be controllable and repeatable by conducting experiments on lab-scale models.

These packaging methods, structural architectures, and deployment schemes are applicable to a variety of spacecraft structures such as solar power arrays, solar sails, antenna arrays, and drag sails; they have the potential to enable larger variants of these structures while reducing the packaging volume required. In this thesis, these methods are applied to the preliminary structural design of a space solar power satellite. This deployable spacecraft, measuring 60 m x 60 m, can be packaged into a cylinder measuring 1.5 m in height and 1 m in diameter. It can be deployed to a flat configuration, where it acts as a stiff lightweight support framework for multifunctional tiles that collect sunlight, generate electric power, and transmit it to a ground station on Earth.

Intimité et sensations dans les films d'animation en volume de Girlin Bassovskaja

Peu satisfaite des concepts généralement mentionnés lorsqu’il s’agit d’écrire sur les films réalisés en stop-motion, je propose d’analyser un corpus de quatre films réalisés par un duo estonien peu connu, les réalisatrices Jelena Girlin et Mari-Liis Bassovskaja, en ancrant mon discours dans une recherche plus large sur l’intimité et la sensorialité en art. J’effleure, par l’entremise d’une revue de littérature, le paradoxe d’animer l’inanimé et l’idée du umheimlich freudien, prégnants dans les écrits substantiels autour du cinéma d’animation en volume. Après avoir démontré que l’œuvre de Girlin Bassovskaja s’incrit dans le domaine de l’intime, j’approfondis l’analyse en m’appuyant sur les théories de la visualité haptique appliquée aux films. Je découvre le corpus à la lumière de ces théories, et évoque l’idée du regard caressant du spectateur vers le film, mais aussi de sa réversibilité. De plus, en tant que réalisatrice-animatrice de court-métrages d’animation, les théories susmentionnées outillent ma pensée afin de décrire ma volonté quasi obsessionnelle de rendre l’intimité tangible par une animation sensuelle en pâte à modeler sur verre.

Intimité et sensations dans les films d'animation en volume de Girlin Bassovskaja

Peu satisfaite des concepts généralement mentionnés lorsqu’il s’agit d’écrire sur les films réalisés en stop-motion, je propose d’analyser un corpus de quatre films réalisés par un duo estonien peu connu, les réalisatrices Jelena Girlin et Mari-Liis Bassovskaja, en ancrant mon discours dans une recherche plus large sur l’intimité et la sensorialité en art. J’effleure, par l’entremise d’une revue de littérature, le paradoxe d’animer l’inanimé et l’idée du umheimlich freudien, prégnants dans les écrits substantiels autour du cinéma d’animation en volume. Après avoir démontré que l’œuvre de Girlin Bassovskaja s’incrit dans le domaine de l’intime, j’approfondis l’analyse en m’appuyant sur les théories de la visualité haptique appliquée aux films. Je découvre le corpus à la lumière de ces théories, et évoque l’idée du regard caressant du spectateur vers le film, mais aussi de sa réversibilité. De plus, en tant que réalisatrice-animatrice de court-métrages d’animation, les théories susmentionnées outillent ma pensée afin de décrire ma volonté quasi obsessionnelle de rendre l’intimité tangible par une animation sensuelle en pâte à modeler sur verre.

Space density distribution of galaxies in the absolute magnitude - rotation velocity plane: a volume-complete Tully-Fisher relation from CALIFA stellar kinematics

We measured the distribution in absolute magnitude - circular velocity space for a well-defined sample of 199 rotating galaxies of the Calar Alto Legacy Integral Field Area Survey (CALIFA) using their stellar kinematics. Our aim in this analysis is to avoid subjective selection criteria and to take volume and large-scale structure factors into account. Using stellar velocity fields instead of gas emission line kinematics allows including rapidly rotating early-type galaxies. Our initial sample contains 277 galaxies with available stellar velocity fields and growth curve r-band photometry. After rejecting 51 velocity fields that could not be modelled because of the low number of bins, foreground contamination, or significant interaction, we performed Markov chain Monte Carlo modelling of the velocity fields, from which we obtained the rotation curve and kinematic parameters and their realistic uncertainties. We performed an extinction correction and calculated the circular velocity v_circ accounting for the pressure support of a given galaxy. The resulting galaxy distribution on the M-r - v(circ) plane was then modelled as a mixture of two distinct populations, allowing robust and reproducible rejection of outliers, a significant fraction of which are slow rotators. The selection effects are understood well enough that we were able to correct for the incompleteness of the sample. The 199 galaxies were weighted by volume and large-scale structure factors, which enabled us to fit a volume-corrected Tully-Fisher relation (TFR). More importantly, we also provide the volume-corrected distribution of galaxies in the M_r - v_circ plane, which can be compared with cosmological simulations. The joint distribution of the luminosity and circular velocity space densities, representative over the range of -20 > M_r > -22 mag, can place more stringent constraints on the galaxy formation and evolution scenarios than linear TFR fit parameters or the luminosity function alone.

Subfilter-scale Stress Modelling for Large Eddy Simulations

A subfilter-scale (SFS) stress model is developed for large-eddy simulations (LES) and is tested on various benchmark problems in both wall-resolved and wall-modelled LES. The basic ingredients of the proposed model are the model length-scale, and the model parameter. The model length-scale is defined as a fraction of the integral scale of the flow, decoupled from the grid. The portion of the resolved scales (LES resolution) appears as a user-defined model parameter, an advantage that the user decides the LES resolution. The model parameter is determined based on a measure of LES resolution, the SFS activity. The user decides a value for the SFS activity (based on the affordable computational budget and expected accuracy), and the model parameter is calculated dynamically. Depending on how the SFS activity is enforced, two SFS models are proposed. In one approach the user assigns the global (volume averaged) contribution of SFS to the transport (global model), while in the second model (local model), SFS activity is decided locally (locally averaged). The models are tested on isotropic turbulence, channel flow, backward-facing step and separating boundary layer. In wall-resolved LES, both global and local models perform quite accurately. Due to their near-wall behaviour, they result in accurate prediction of the flow on coarse grids. The backward-facing step also highlights the advantage of decoupling the model length-scale from the mesh. Despite the sharply refined grid near the step, the proposed SFS models yield a smooth, while physically consistent filter-width distribution, which minimizes errors when grid discontinuity is present. Finally the model application is extended to wall-modelled LES and is tested on channel flow and separating boundary layer. Given the coarse resolution used in wall-modelled LES, near the wall most of the eddies become SFS and SFS activity is required to be locally increased. The results are in very good agreement with the data for the channel. Errors in the prediction of separation and reattachment are observed in the separated flow, that are somewhat improved with some modifications to the wall-layer model.

The influence of particles recycling on the geochemistry of sediments in a large tropical dam lake in the Amazonian region, Brazil

The influence of particles recycling on the geochemistry of sediments in a large tropical dam lake in the Amazonian region, Brazil. Article in Journal of South American Earth Sciences 72 · December 2016 DOI: 10.1016/j.jsames.2016.09.012 1st Rita Fonseca 16.85 · Universidade de Évora 2nd Catarina Pinho 3rd Manuela Oliveira 22.6 · Universidade de Évora Abstract As a result of over-erosion of soils, the fine particles, which contain the majority of nutrients, are easily washed away from soils, which become deficient in a host of components, accumulating in lakes. On one hand, the accumulation of nutrients-rich sediments are a problem, as they affect the quality of the overlying water and decrease the water storage capacity of the system; on the other hand, sediments may constitute an important resource, as they are often extremely rich in organic and inorganic nutrients in readily available forms. In the framework of an extensive work on the use of rock related materials to enhance the fertility of impoverish soils, this study aimed to evaluate the role on the nutrients cycle, of particles recycling processes from the watershed to the bottom of a large dam reservoir, at a wet tropical region under high weathering conditions. The study focus on the mineralogical transformations that clay particles undergo from the soils of the drainage basin to their final deposition within the reservoir and their influence in terms of the geochemical characteristics of sediments. We studied the bottom sediments that accumulate in two distinct seasonal periods in Tucuruí reservoir, located in the Amazonian Basin, Brazil, and soils from its drainage basin. The surface layers of sediments in twenty sampling points with variable depths, are representative of the different morphological sections of the reservoir. Nineteen soil samples, representing the main soil classes, were collected near the margins of the reservoir. Sediments and soils were subjected to the same array of physical, mineralogical and geochemical analyses: (1) texture, (2) characterization and semi-quantification of the clay fraction mineralogy and (3) geochemical analysis of the total concentration of major elements, organic compounds (organic C and nitrogen), soluble fractions of nutrients (P and K), exchangeable fractions (cation exchange capacity, exchangeable bases and acidity) and pH(H2O).

A second order control-volume finite-element least-squares strategy for simulating diffusion in strongly anisotropic media

An unstructured mesh �nite volume discretisation method for simulating di�usion in anisotropic media in two-dimensional space is discussed. This technique is considered as an extension of the fully implicit hybrid control-volume �nite-element method and it retains the local continuity of the ux at the control volume faces. A least squares function recon- struction technique together with a new ux decomposition strategy is used to obtain an accurate ux approximation at the control volume face, ensuring that the overall accuracy of the spatial discretisation maintains second order. This paper highlights that the new technique coincides with the traditional shape function technique when the correction term is neglected and that it signi�cantly increases the accuracy of the previous linear scheme on coarse meshes when applied to media that exhibit very strong to extreme anisotropy ratios. It is concluded that the method can be used on both regular and irregular meshes, and appears independent of the mesh quality.