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1.
Cystic fibrosis (CF) is the most common lethal autosomal recessive disorder among Caucasians and is caused by abnormalities in the cystic fibrosis transmembrane conductance regulator gene (CFTR). CFTR gene encodes a chloride channel that regulates secretion in many exocrine tissues especially pancreatic and pulmonary tissues. The clinical presentation of cystic fibrosis is highly variable with isolated CAVD (congenital absence of vas deferens) and/or typical pancreatic and pulmonary manifestations. Over 500 mutations in the CFTR gene have been described and vary among different geographic locations. The severity of clinical manifestations and specially the pulmonary disease is poorly correlated with genotype. It is interesting to collect clinical and genetical data by analysing a larger cohort of CF patients. These results are likely to improve our understanding of the physiopathology of CF and the genetic counselling; particular biochemical defect could lead to more specific treatments in the future. From our 110 patients selected in Champagne-Ardenne country, we analysed the entire coding sequence of CFTR gene and detected 95% of CF mutations and in fact, 89.5% if we include the CAVD patients; 59.4% of CF mutations were detected for these patients. Three new mutations have been here reported. We found numerous CF mutations with a large distribution throughout the gene. Nevertheless, three exons are mainly involved: 10, 11 and 21. Relationships between the genotype and phenotype are difficult to assess. 相似文献
2.
Three algorithms for computing the diameter of a finite planar set are proposed. Although all three algorithms have (O(n
2) worst-case running time, an expected-complexity analysis shows that, under reasonable probabilistic assumptions, all three algorithms have linear expected running time. Experimental results indicate that two of these algorithms perform very well for some distributions, and are competitive with an existing method. Finally, we exhibit situations where these exact algorithms out-perform a published approximate algorithm.Research of the first author was supported by grant NSERC A 2422. Research of the second author was supported by grants NSERC A 9293, FCAC EQ-1678 and a Killam Senior Research Fellowship awarded by the Canada Council 相似文献
3.
Threshold energy measurements of transient rotational stimulated Raman scattering are compared to Raman conversion calculations from semiclassical theories using a simple concept of a gain reduction factor which expresses the reduction of the gain from its steady-state value due to transient scattering. Excellent agreement was found with theoretically derived gain reduction in the transient and highly transient case 相似文献
4.
Relative neighborhood graphs and their relatives 总被引:12,自引:0,他引:12
Jaromczyk J.W. Toussaint G.T. 《Proceedings of the IEEE. Institute of Electrical and Electronics Engineers》1992,80(9):1502-1517
Results of neighborhood graphs are surveyed. Properties, bounds on the size, algorithms, and variants of the neighborhood graphs are discussed. Numerous applications including computational morphology, spatial analysis, pattern classification, and databases for computer vision are described 相似文献
5.
There exist many ideas and assumptions about the development and meaning of modularity in biological and technical neural systems. We empirically study the evolution of connectionist models in the context of modular problems. For this purpose, we define quantitative measures for the degree of modularity and monitor them during evolutionary processes under different constraints. It turns out that the modularity of the problem is reflected by the architecture of adapted systems, although learning can counterbalance some imperfection of the architecture. The demand for fast learning systems increases the selective pressure towards modularity. 相似文献
6.
R. Chavan G. Chitarin R.S. Delogu A. Encheva A. Gallo E.R. Hodgson L.C. Ingesson A. Le-Luyer J.B. Lister Ph. Moreau J.-M. Moret S. Peruzzo J. Roméro D.S. Testa M. Toussaint G. Vayakis R. Vila 《Fusion Engineering and Design》2009,84(2-6):295-299
The current status of the ITER magnetics diagnostic is summarised. The various risks are discussed on the basis of when they could be present during ITER operation and appropriate mitigation is reviewed. An implementation risk or common mode operation failure risk to the magnetic diagnostic can only be mitigated by diversity. All identified risks are being handled with ongoing research and development to minimise these risks. A reasonable level of design and manufacturing diversity has been therefore introduced in the procurement and installation plans, in order to optimise overall reliability avoiding dispersion of resources. 相似文献
7.
8.
B Toussaint R de Sury d''Aspremont I Delic-Attree V Berchet S Elsen A Colbeau W Dischert Y Lazzaroni PM Vignais 《Canadian Metallurgical Quarterly》1997,26(5):927-937
108 patient were operated on the Neurosurgical Department of the Military Clinical Hospital in Wroc?aw since 1989 till 1991. The stability of the lumbar spine after hemilaminectomy and laminectomy with disc excision and interbody fusion was analysed. The period after operation ranged from 6 months to 2 years. Signs of clinical and radiological instability were the base of the study. Respective segmental motions in maximal ante- and retroflexion were calculated. Horizontal intercorporal dislocation was assessed. No signs of instability where found in the analysed material. The results after laminectomy and hemilaminectomy were similar. The failures were not caused by instability. 相似文献
9.
10.
F. Gmez F. Hurtado J. A. Sellars G. Toussaint 《Journal of Visual Communication and Image Representation》2001,12(4):387
A polyhedral object in three-dimensional space is often well represented by a set of points and line segments that act as its features. By a nice perspective projection of an object we mean a projection that gives an image in which the features of the object, relevant for some task, are visible without ambiguity. In this paper we consider the problem of computing a variety of nice perspective projections of three-dimensional objects such as simple polygonal chains, wire-frame drawings of graphs, and geometric rooted trees. These problems arise in areas such as computer vision, computer graphics, graph drawing, knot theory, and computational geometry. 相似文献