96 research outputs found
Les enfants trisomiques 21 nés vivants en Bretagne de 1997 à 2001 (discussion à propos des marqueurs sériques maternels)
No full textRENNES1-BU Santé (352382103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF
Prévention primaire des malformations du tube neural par la supplémentation en acide folique (étude en maternité à Vannes en 2005)
No full textRENNES1-BU Santé (352382103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF
Prediction of Housing Location Price by a Multivariate Spatial Method: Cokriging
No full textCokriging is a multivariate spatial method to estimate spatial correlated variables. This method allows spatial estimations to be made and interpolated maps of house price to be created. These maps are interesting for appraisers, real estate companies, and bureaus because they provide an overview of location prices. Kriging uses one variable of interest (house price) to make estimates at unsampled locations, and cokriging uses the variable of interest and auxiliary correlated variables. In this paper, housing location price is estimated using kriging methods, isotopic data cokriging, and heterotopic data cokriging methods. The results of these methods are then compared.
Homozygous deletion of an 80kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy.: Homozygous deletion of the DNAJ6C and the LEPR gene
No full textInternational audienceCONTEXT: The genomic organization of the LEPR gene is complex and generates three independent transcripts whose respective functions are still poorly understood. METHODS/RESULTS: We describe here a 7-year old patient with a homozygous 80kb deletion in the chromosomal 1p31.3 region with early onset obesity, mental retardation and epilepsy. The deleted region comprises the proximal promoter and exons 1 and 2 of the LEPR gene and exons 5 to 19 of the DNAJC6 gene. The deletion leads to the deficiency of all canonical OB-R isoforms but maintains the B219 OB-R short isoforms controlled by the preserved second LEPR promoter. The DNAJC6 gene encodes auxilin-1, a protein required for clathrin-dependent recycling of synaptic vesicles in neurons that is possibly at the origin of the mental retardation and epilepsy phenotype. The obese phenotype and the absence of signaling-competent OB-R are consistent with previously reported individuals with OB-R deficiency. The deletion eliminates an additional transcript of the LEPR gene that encodes endospanin-1, a protein that has been genetically and biochemically linked to OB-R function. CONCLUSIONS: Our study confirms the phenotype of individuals with OB-R deficiency and postulates the effects of auxilin-1 deficiency (mental retardation/epilepsy) and endospanin-1 deficiency (OB-R specific functions) in humans
mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia
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Evaluation of soil characterization technologies using a stochastic, value-of-information approach
No full textThe US Department of Energy has initiated an integrated demonstration program to develop and compare new technologies for the characterization of uranium-contaminated soils. As part of this effort, a performance-assessment task was funded in February, 1993 to evaluate the field tested technologies. Performance assessment can be cleaned as the analysis that evaluates a system`s, or technology`s, ability to meet the criteria specified for performance. Four new technologies were field tested at the Fernald Environmental Management Restoration Co. in Ohio. In the next section, the goals of this performance assessment task are discussed. The following section discusses issues that must be resolved if the goals are to be successfully met. The author concludes with a discussion of the potential benefits to performance assessment of the approach taken. This paper is intended to be the first of a series of documentation that describes the work. Also in this proceedings is a paper on the field demonstration at the Fernald site and a description of the technologies (Tidwell et al, 1993) and a paper on the application of advanced geostatistical techniques (Rautman, 1993). The overall approach is to simply demonstrate the applicability of concepts that are well described in the literature but are not routinely applied to problems in environmental remediation, restoration, and waste management. The basic geostatistical concepts are documented in Clark (1979) and in Issaks and Srivastava (1989). Advanced concepts and applications, along with software, are discussed in Deutsch and Journel (1992). Integration of geostatistical modeling with a decision-analytic framework is discussed in Freeze et al (1992). Information-theoretic and probabilistic concepts are borrowed from the work of Shannon (1948), Jaynes (1957), and Harr (1987). The author sees the task as one of introducing and applying robust methodologies with demonstrated applicability in other fields to the problem at hand
Prenatal diagnosis of cystic fibrosis: the 18-year experience of Brittany (western France)
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Integration of geological and geophysical data of different quality into the stochastic description of aquifers
No full textMany of the present problems in hydrogeology such as old waste disposal sites and the risk of the infiltration of contaminated riverwater concern the protection of groundwater. Solutions of qualitative and quantitative, site-specific groundwater problems require the knowledge of the site-specific heterogeneity of the subsurface. Therefore, (1) descriptive, (2) structure-imitating, and (3) process-imitating methods are combined: (1) Sedimentlogical and geophysical data – outcrop, drill-core, and georadar data – are combined in a lithofacies-based interpretation and processed to be used for stochastic simulations of sedimentary structures. This interpretation respects differences in data uncertainty and provides lithofacies probabilities for points along boreholes and grid nodes with arbitrary mesh sizes along georadar sections. The estimation of probabilities that drill-core layer descriptions and radarfacies patterns represent specified lithofacies types is based on the significance of the information included in drill-core layer descriptions and the structural information of radarfacies patterns. The specification of the lithofacies types is based on outcrop data. (2) GEOSSAV (Geostatistical Environment fOr Subsurface Simulation And Visualization) has been developed for the integration of hard and soft data into the stochastic simulation and visualization of distributions of geological structures and hydrogeological properties in the subsurface. GEOSSAV, an interface to selected geostatistical modules (bicalib, gamv, vargplt, and sisim) from the Geostatistical Software LIBrary, GSLIB (Deutsch and Journel, 1998), can be used for data analysis, variogram computation of regularly or irregularly spaced data, and sequential indicator simulation of subsurface heterogeneities. Sequential indicator simulation, based on various kriging techniques (simple, ordinary, and Bayesian), is suitable for the simulation of either continuous variables such as hydraulic conductivity of an aquifer or chemical concentrations at a contaminated site, or categorical variables which indicate the presence or absence of a particular lithofacies. Export options for finite-difference groundwater models allow either files that characterize single model layers or files that characterize the complete 3D flow model set-up for MODFLOW-based groundwater simulation systems. GEOSSAV has been successfully tested on Microsoft Windows NT 4.0/2000/XP and on SuSE Linux 7.3. The current version is available at http://www.unibas.ch/earth/pract. (3) The developed lithofacies-based interpretation of geological and geophysical data and the software GEOSSAV was applied on a field example in the groundwater recharge and production area Lange Erlen, a formerly braided river environment near Basel, Northwestern Switzerland. Two different groundwater models are used to simulate a capture zone of a well located near the infiltrating river Wiese, depending on the hydrological variations (river discharge, hydraulic conductivity of the riverbed), the water supply operation, the progress of river restoration, and the heterogeneity of the subsurface. A deterministic, large-scaled groundwater model (1.8 km x 1.2 km) is used to simulate the average behavior of groundwater flow and advective transport. It is also used to assign the hydraulic boundary conditions for a small-scaled groundwater model (550 m x 400 m), which relies on stochastically generated aquifer properties based on sitespecific drill-core and georadar data. The stochastic approach in the small-scaled groundwater model does not lead to a clearly defined well capture zone, but to a well capture zone distribution reflecting the uncertainty of the knowledge of the aquifer parameters. The developed methods and tools allow the integration of geological and geophysical data of different quality into the stochastic description of aquifers. They can be used, e.g., to define and evaluate groundwater protection zones in heterogeneous aquifers associated with infiltration from rivers under changing boundary conditions and under the uncertainty of subsurface heterogeneity
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