Éditeur(s) : HAL CCSD
Résumé : We present an experimental study of relations between hydraulic properties of clayey rocks and their deformation at bulk and micro scale. The experimentation is based on triaxial deformation of kaolinitic core samples, on permeability measurements, and on several methods of analysis of the microstructure. To produce the samples, remoulded kaolinite material is consolidated by axial loading up to 20 MPa in an oedometric cell. Then, in a triaxial cell, an undrained stress path is applied in order to induce shearing damage in the sample. The permeability of the sample is measured by fluid flow across the sample. Before and after these hydro-mechanical tests, the evolution and the homogeneity of the pore space and moreover the texture of the material are analysed by X-ray tomography, environmental scanning electron microscopy and thermic neutron diffraction. Contrary to expectations, the permeability at the sample scale does not vary significantly, although quite large deformation is reached. The final deformation is heterogeneous, with well-developed shear bands. It appears that the development of compacting and dilating zones generates a heterogeneous permeability field, which results in a negligible variation of the bulk permeability at the sample scale.
International Journal of Rock Mechanics and Mining Science

hal-00496407
https://hal.archives-ouvertes.fr/hal-00496407
DOI : 10.1016/j.ijrmms.2010.04.007

Éditeur(s) : HAL CCSD Nature Publishing Group
Résumé : International audience
The etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the prevalence of disease-causing variant identification. A systematic screening of GATA4, NKX2-5, ZIC3 and Multiplex ligation-dependent probe amplification (MLPA) P311 Kit was setup on the proband of 154 families with at least two cases of non-syndromic CHD. Additionally, ELN screening was performed on families with supravalvular arterial stenosis. Twenty-two variants were found, but segregation analysis confirmed unambiguously the causality of 16 variants: GATA4 (1 x), NKX2-5 (6 x), ZIC3 (3 x), MLPA (2 x) and ELN (4 x). Therefore, this approach was able to identify the causal variant in 10.4% of familial CHD cases. This study demonstrated the existence of a de novo variant even in familial CHD cases and the impact of CHD variants on adult cardiac condition even in the absence of CHD. This study showed that the systematic screening of genetic factors is useful in familial CHD cases with up to 10.4% elucidated cases. When successful, it drastically improved genetic counseling by discovering unaffected variant carriers who are at risk of transmitting their variant and are also exposed to develop cardiac complications during adulthood thus prompting long-term cardiac follow-up. This study provides an important baseline at dawning of the next-generation sequencing era.
ISSN: 1018-4813

hal-01404211
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01404211
DOI : 10.1038/ejhg.2015.105
PUBMED : 26014430

Éditeur(s) : HAL CCSD Pergamon
Résumé : This paper presents an experimental study of the deformation of Beaucaire marl subjected to drained triaxial tests under a wide range of confining pressure. Several methods of observation have been used: X-ray computed tomography, scanning electronic microscopy, quantitative image analysis of thin sections and mercury porosimetry. The analysis at the grain scale shows the existence of various deformation modes depending on the mean stress level. These modes are classified with reference to the brittle and ductile regimes. In specimens deformed under low confining pressure, macro-cracks are localised in a band more contracting than the rest of the specimen. In specimens deformed under moderate confining pressure, a series of micro-scale shear bands characterised by a grain re-orientation towards the direction of macro-shear is detected in the zones of localised deformation. The material in between the micro-scale shear bands is contracting more than the rest of the specimen in some cases; in other cases, a schistosity is detected also in the rest of the specimen outside the localisation zones. In the specimen deformed under high confining pressure, no localisation occurs, and a schistosity is observable throughout the specimen.
ISSN: 1365-1609

hal-00411208
https://hal.archives-ouvertes.fr/hal-00411208
DOI : 10.1016/j.ijrmms.2007.08.007