517 research outputs found
Stochastic analysis of a radial-inflow turbine in the presence of parametric uncertainties
This paper presents an uncertainty quantification study of the performance analysis of the high pressure ratio single stage radial-inflow turbine used in the Sundstrand Power Systems T-100 Multi-purpose Small Power Unit. A deterministic 3D volume-averaged Computational Fluid Dynamics (CFD) solver is coupled with a non-statistical generalized Polynomial Chaos (gPC) representation based on a pseudo-spectral projection method. One of the advantages of this approach is that it does not require any modification of the CFD code for the propagation of random disturbances in the aerodynamic and geometric fields. The stochastic results highlight the importance of the blade thickness and trailing edge tip radius on the total-to-static efficiency of the turbine compared to the angular velocity and trailing edge tip length. From a theoretical point of view, the use of the gPC representation on an arbitrary grid also allows the investigation of the sensitivity of the blade thickness profiles on the turbine efficiency. The gPC approach is also applied to coupled random parameters. The results show that the most influential coupled random variables are trailing edge tip radius coupled with the angular velocity
Genetics of anophthalmia and microphthalmia. Part 1, Non-syndromic anophthalmia/microphthalmia
Eye formation is the result of coordinated induction and differentiation processes during embryogenesis. Disruption of any one of these events has the potential to cause ocular growth and structural defects, such as anophthalmia and microphthalmia (A/M). A/M can be isolated or occur with systemic anomalies, when they may form part of a recognizable syndrome. Their etiology includes genetic and environmental factors; several hundred genes involved in ocular development have been identified in humans or animal models. In humans, around 30 genes have been repeatedly implicated in A/M families, although many other genes have been described in single cases or families, and some genetic syndromes include eye anomalies occasionally as part of a wider phenotype. As a result of this broad genetic heterogeneity, with one or two notable exceptions, each gene explains only a small percentage of cases. Given the overlapping phenotypes, these genes can be most efficiently tested on panels or by whole exome/genome sequencing for the purposes of molecular diagnosis. However, despite whole exome/genome testing more than half of patients currently remain without a molecular diagnosis. The proportion of undiagnosed cases is even higher in those individuals with unilateral or milder phenotypes. Furthermore, even when a strong gene candidate is available for a patient, issues of incomplete penetrance and germinal mosaicism make diagnosis and genetic counselling challenging. In this review, we present the main genes implicated in nonsyndromic human A/M phenotypes and, for practical purposes, classify them according to the most frequent or predominant phenotype each is associated with. Our intention is that this will allow clinicians to rank and prioritize their molecular analyses and interpretations according to the phenotypes of their patients
Reducing Uncertainties in a Wind-Tunnel Experiment using Bayesian Updating
We perform a fully stochastic analysis of an experiment in aerodynamics. Given estimated uncertainties on the principle input parameters of the experiment, including uncertainties on the shape of the model, we apply uncertainty propagation methods to a suitable CFD model of the experimental setup. Thereby we predict the stochastic response of the measurements due to the experimental uncertainties. To reduce the variance of these uncertainties a Bayesian updating technique is employed in which the uncertain parameters are treated as calibration parameters, with priors taken as the original uncertainty estimates. Imprecise measurements of aerodynamic forces are used as observational data. Motivation and a concrete application come from a wind-tunnel experiment whose parameters and model geometry have substantial uncertainty. In this case the uncertainty was a consequence of a poorly constructed model in the pre-measurement phase. These methodological uncertainties lead to substantial uncertainties in the measurement of forces. Imprecise geometry measurements from multiple sources are used to create an improved stochastic model of the geometry. Calibration against lift and moment data then gives us estimates of the remaining parameters. The effectiveness of the procedure is demonstrated by prediction of drag with uncertainty
Universality classes in Burgers turbulence
We establish necessary and sufficient conditions for the shock statistics to
approach self-similar form in Burgers turbulence with L\'{e}vy process initial
data. The proof relies upon an elegant closure theorem of Bertoin and Carraro
and Duchon that reduces the study of shock statistics to Smoluchowski's
coagulation equation with additive kernel, and upon our previous
characterization of the domains of attraction of self-similar solutions for
this equation
USING VIRTUAL OR AUGMENTED REALITY for the TIME-BASED STUDY of COMPLEX UNDERWATER ARCHAEOLOGICAL EXCAVATIONS
International audienceCultural Heritage (CH) resources are partial, heterogeneous, discontinuous, and subject to ongoing updates and revisions. The use of semantic web technologies associated with 3D graphical tools is proposed to improve access, exploration, exploitation and enrichment of these CH data in a standardized and more structured form. This article presents the monitoring work developed for more than ten years on the excavation of the Xlendi site. Around an exceptional shipwreck, the oldest from the Archaic period in the Western Mediterranean, we have set up a unique excavation at a depth of 110m assisted by a rigorous and continuous photogrammetry campaign. All the collected results are modelled by an ontology and visualized with virtual and augmented reality tools that allow a bidirectional link between the proposed graphical representations and the non-graphical archaeological data. It is also important to highlight the development of an innovative 3D mobile app that lets users study and understand the site as well as experience sensations close to those of a diver visiting the site
Prediction of bulk milk fatty acid composition based on farming practices collected through on-farm surveys
International audience; The aim of this study was to predict the fatty acid (FA) composition of bulk milk using data describing farming practices collected via on-farm surveys. The FA composition of 1,248 bulk cow milk samples and the related farming practices were collected from 20 experiments led in 10 different European countries at 44 degrees N to 60 degrees N latitude and sea level to 2,000 m altitude. Farming practice-based FA predictions [coefficient of determination (R-2) >0.50] were good for C16:0, C17:0, saturated FA, polyunsaturated FA, and odd-chain FA, and very good (R-2 >= 0.60) for trans-11 C18:1, trans-10 + trans-11 C18:1, cis-9,trans-11 conjugated linoleic acid, total trans FA, C18:3n-3, n-6:n-3 ratio, and branched-chain FA. Fatty acids were predicted by cow diet composition and by the altitude at which milk was produced, whereas animal-related factors (i.e., lactation stage, breed, milk yield, and proportion of primiparous cows in the herd) were not significant in any of the models. Proportion of fresh herbage in the cow diet was the main predictor, with the highest effect in almost all FA models. However, models built solely on conserved forage-derived samples gave good predictions for odd-chain FA, branched-chain FA, trans-10 C18:1 and C18:3n-3 (R-2 >= 0.46, 0.54, 0.52, and 0.70, respectively). These prediction models could offer farmers a valuable tool to help improve the nutritional quality of the milk they produce
Confirmation of TENM3 Involvement in Autosomal Recessive Colobomatous Microphthalmia
Anophthalmia and microphthalmia are the most severe malformations of the eye, referring to a congenital absence, and a reduced size of the eyeball respectively. More than 20 genes have been shown to be mutated in patients with syndromic and non-syndromic forms of anophthalmia–microphthalmia. In a recent study combining autozygome and exome analysis, a homozygous loss of function mutation in TENM3 (previously named ODZ3) was reported in two siblings with isolated bilateral colobomatous microphthalmia from a consanguineous Saudi family. Herein, we report a third patient (not related to the previously reported family) with bilateral colobomatous microphthalmia and developmental delay in whom genetic studies identified a homozygous TENM3 splicing mutation c.2968-2A>T (p.Val990Cysfs*13). This report supports the association of TENM3 mutations with colobomatous microphthalmia and expands the phenotypic spectrum associated with mutations in this gene
FOXE3 mutations: genotype-phenotype correlations
Microphthalmia and anophthalmia (MA) are severe developmental eye anomalies, many of
which are likely to have an underlying genetic cause. More than 30 genes have been described, each of which is responsible for a small percentage of these anomalies. Amongst these, is the FOXE3 gene, which was initially described in individuals with dominantly inherited anterior segment dysgenesis and, subsequently, associated with recessively inherited primary aphakia, sclerocornea and microphthalmia. In this work, we describe 8 individuals presenting with a MA phenotype. Among them, 7 are carrying biallelic recessive FOXE3 mutations and 2 of these have novel mutations: p.(Ala78Thr) and p.(Arg104Cys). The last of our patients is carrying in the heterozygous state the recessive p.(Arg90Leu) mutation in the FOXE3 gene. To further understand FOXE3 involvement in this wide spectrum of ocular anomalies with two different patterns of inheritance, we reviewed all individuals with ocular abnormalities described in the literature for which a FOXE3 mutation was identified. This review demonstrates that correlations exist between the mutation type, mode of inheritance and the phenotype severity. Furthermore, understanding the genetic basis of these conditions will contribute to overall understanding of eye development, improve the quality of care, genetic counseling and, in future, gene based therapies
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