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排序方式: 共有845条查询结果,搜索用时 15 毫秒
21.
Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as "Jaeken syndrome") is an autosomal recessive disorder characterized by defective glycosylation. Most patients show a deficiency of phosphomannomutase (PMM), the enzyme that converts mannose 6-phosphate to mannose 1-phosphate in the synthesis of GDP-mannose. The disease is linked to chromosome 16p13, and mutations have recently been identified in the PMM2 gene in CDG1 patients with a PMM deficiency (CDG1A). The availability of the genomic sequences of PMM2 allowed us to screen for mutations in 56 CDG1 patients from different geographic origins. By SSCP analysis and by sequencing, we identified 23 different missense mutations and 1 single-base-pair deletion. In total, mutations were found on 99% of the disease chromosomes in CDG1A patients. The R141H substitution is present on 43 of the 112 disease alleles. However, this mutation was never observed in the homozygous state, suggesting that homozygosity for these alterations is incompatible with life. On the other hand, patients were found homozygous for the D65Y and F119L mutations, which must therefore be mild mutations. One particular genotype, R141H/D188G, which is prevalent in Belgium and the Netherlands, is associated with a severe phenotype and a high mortality. Apart from this, there is only a limited relation between the genotype and the clinical phenotype. 相似文献
22.
The objective of our study was to analyse the fluctuation of cardiotocographic scores during labor in fetal growth retardation (FGR). The study took place at the University hospital "Principe de Asturias", Alcalá de Henares, Madrid, Spain. 170 at term FGR fetuses and 170 at term fetuses without FGR as control group were compared using modified Fischer scores, which were blindly performed at 3, 5 and 10 cm of cervical dilatation. As results we found out that the mean value of the Fischer score was significantly lower in FGR at 3 cm of cervical dilatation (8.1 +/- 1 vs 8.7 +/- 0.6), as well as at 5 cm (7.6 +/- 0.9 vs 8.1 +/- 0.7) and at 10 cm (6.7 +/- 0.8 vs 7.4 +/- 0.8). Poor prognosis cardiotocograms were also more common in FGR than in the control group in the three cut-offs points studied (7.5% vs 0.6% at 3 cm, 9.8 vs 1.8 at 5 cm and 37.9 vs 11.6 at complete cervical dilatation). The afore mentioned differences were more remarkable as labor advanced. Conclusions are that poor fetal heart rate recordings were detected in FGR at the beginning of labor when compared with control group fetuses and the differences between both groups increased while the labor prolonging. 相似文献
23.
There are various ways to define digital convexity in Zn. The proposed approach focuses on structuring elements (and not the sets under study), whose digital versions should allow to construct hierarchies of operators satisfying Matheron semi-groups law γλγμ=γmax(λ,μ), where λ is a size factor. In Rn the convenient class is the Steiner one. Its elements are Minkowski sums of segments. We prove that it admits a digital equivalent when the segments of Zn are Bezout. The conditions under which the Steiner sets are convex in Zn, and are connected, are established. The approach is then extended to structuring elements that vary according to the law of perspective, and also to anamorphoses, so that the digital Steiner class and its properties can extend to digital spaces as a sphere or a torus. 相似文献
24.
N.V. Banichuk F. Ragnedda M. Serra 《Structural and Multidisciplinary Optimization》2000,19(4):303-310
The problem of optimal structural design of shallow thin-walled elements such as curved rectangular plates are formulated
and solved for dynamic conditions. The distribution of the initial curvature of shallow plates in a nonstrained state is taken
as the control function. Dynamic compliance is considered as the minimized performance functional. Optimality conditions are
derived for the distributed parameter system considered and applied for the construction of the analytical solution. The rigorous
analysis of extremum conditions and behavioural equations shows that the initial optimization problem is decomposed into several
problems of classical structural analysis, which can be successfully solved analytically. Some optimal designs obtained for
rectangular plates under stretching and bending, and a plate lying on an elastic foundation and subjected to lateral forces
are presented.
Received: November 27, 1998 相似文献
25.
Manuel Portugal Ferreira Cláudia Frias Pinto Fernando Ribeiro Serra 《Scientometrics》2014,98(3):1899-1922
Transaction costs theory (TCT) has long been an important conceptual lens for examining International Business (IB) phenomena and perhaps especially relevant for the study of multinational corporations, entry mode choices and location selection. In this paper we examine the extent to which TCT been used and has impacted IB research. Methodologically, we conduct a bibliometric study of the articles published on nine top journals for publishing IB-related research. We use Jean-François Hennart’s research as the key marker for TCT in IB research given that Hennart’s work has been a hallmark in the discipline. On a sample of 377 articles published between 1982 and 2010, and using the works rather than the authors as the unit of analysis, we analyze citations, co-citations and a spatial visualization of the intellectual research themes delved into. Our analyses provide insights on the influence of Hennart but more broadly of TCT on IB research over the past three decades. We conclude that the TCT has a pervasive influence on a large array of IB research and that Hennart’s work is boundary-spanning, connecting several research themes. 相似文献
26.
In this work, a simulation tool for proton exchange membrane fuel cells (PEMFC) has been developed, based on a distributed parameter model. The tool is designed to perform studies of time and space variations in the direction of the gas channels. Results for steady-state and dynamic simulations for a single cell of one channel are presented and analyzed. Considered variables are concentrations of reactants, pressures, temperatures, humidification, membrane water content, current density, among others that have significant effects on the performance and durability of PEMFC. 相似文献
27.
Many problems in machine learning and computer vision consist of predicting multi-dimensional output vectors given a specific set of input features. In many of these problems, there exist inherent temporal and spatial dependencies between the output vectors, as well as repeating output patterns and input–output associations, that can provide more robust and accurate predictors when modeled properly. With this intrinsic motivation, we propose a novel Output-Associative Relevance Vector Machine (OA-RVM) regression framework that augments the traditional RVM regression by being able to learn non-linear input and output dependencies. Instead of depending solely on the input patterns, OA-RVM models output covariances within a predefined temporal window, thus capturing past, current and future context. As a result, output patterns manifested in the training data are captured within a formal probabilistic framework, and subsequently used during inference. As a proof of concept, we target the highly challenging problem of dimensional and continuous prediction of emotions, and evaluate the proposed framework by focusing on the case of multiple nonverbal cues, namely facial expressions, shoulder movements and audio cues. We demonstrate the advantages of the proposed OA-RVM regression by performing subject-independent evaluation using the SAL database that constitutes naturalistic conversational interactions. The experimental results show that OA-RVM regression outperforms the traditional RVM and SVM regression approaches in terms of accuracy of the prediction (evaluated using the Root Mean Squared Error) and structure of the prediction (evaluated using the correlation coefficient), generating more accurate and robust prediction models. 相似文献
28.
29.
Anna Delcampo‐Carda Ana Torres‐Barchino Juan Serra‐Lluch 《Color research and application》2019,44(3):381-395
The impact of the physical environment on individuals has arisen as a growing body of research in population wellbeing. Yet, most of studies in this area do not focus on elderly even though they are particularly susceptible to the characteristics of their interior spaces. It is a well‐known fact that to be old is to acquire a tolerance of disabilities based on the gradual degeneration. A common problem is a dysfunction in visual sensitivity and accordingly, the alteration of their environmental color perception. That is why these impairments need to be understood in order to minimize the elderly spatial difficulties. To know at what point there is a loss in the ability to perceive color is necessary to understand how should we take these facts into consideration. A state‐of‐the‐art literature review of current studies from the last 20 years is carried out. The aim is to analyze existing practices on Evidence‐Based Research through a multidisciplinary approach in order to create knowledge about chromatic built environments for the elderly. Data are identified and considered together with empirical experience about color, perception, built environment and elderly. Thus, the way in which elderly perceive the space is explored. The adjustments in the formulation of these impairments throughout any design strategy to adapt the environment to their physiological changes are determined. This article aims to determine a design interpretation of the various findings, demonstrating that color, as a parameter of the visual performance, influences visual comfort and helps performance in architecture for old people. 相似文献
30.
Fuzzy frequency response: definition and analysis for uncertain dynamic systems is proposed in this paper. In terms of transfer function, the uncertain dynamic system is partitioned into several linear sub‐models and organized according to Takagi–Sugeno fuzzy representation. The main contribution of this paper is to demonstrate through the proposal of a Theorem that fuzzy frequency response is a boundary in the magnitude and phase Bode plots. Low‐ and high‐frequency analysis of fuzzy dynamic model is obtained by varying the frequency ω from zero to infinity. Copyright © 2011 John Wiley & Sons, Ltd. 相似文献