A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient

The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.     

Maximum likelihood-based adaptive differential evolution identification algorithm for multivariable systems in the state-space form

Parameter estimation plays an important role in the field of system control. This article is concerned with the parameter estimation methods for multivariable systems in the state-space form. For the sake of solving the identification complexity caused by a large number of parameters in multivariable systems, we decompose the original multivariable system into some subsystems containing fewer parameters and study identification algorithms to estimate the parameters of each subsystem. By taking the maximum likelihood criterion function as the fitness function of the differential evolution algorithm, we present a maximum likelihood-based differential evolution (ML-DE) algorithm for parameter estimation. To improve the parameter estimation accuracy, we introduce the adaptive mutation factor and the adaptive crossover factor into the ML-DE algorithm and propose a maximum likelihood-based adaptive differential evolution algorithm. The simulation study indicates the efficiency of the proposed algorithms.     

Structure–phase state of the surface layers in rails subjected to differential hardening

A layer-by-layer analysis of the structures, the phase compositions, and the defect substructures of differentially hardened rails has been carried by optical and transmission electron microscopy. It is found that the material volume of the rail head fillet is cooled faster than the volume located along the central axis.     

RESERVOIR PROPERTIES OF BARREMIAN – APTIAN URGONIAN LIMESTONES,SE FRANCE,PART 1: INFLUENCE OF STRUCTURAL HISTORY ON POROSITY-PERMEABILITY VARIATIONS

Upper Barremian – Lower Aptian inner platform “Urgonian” limestones in the Mont de Vaucluse region, SE France, consist of alternating metre-scale microporous and tight intervals. This paper focuses on the influence of structural deformation on the reservoir properties of the Urgonian limestone succession in a study area near the town of Rustrel. Petrographic, petrophysical and structural data were recovered from five fully-cored boreholes, from the walls of a 100 m long underground tunnel, and from a 50 m long transect at a nearby outcrop. The data allowed reservoir property variations in the Urgonian limestones to be studied from core to reservoir scale. Eleven Reservoir Rock Types (RRTs) were identified based on petrographic features (texture, grain size), reservoir properties (porosity, permeability), and the frequency of structural discontinuities such as fractures, faults and stylolites. Tight and microporous reservoir rock types were distinguished. Tight reservoir rock types were characterised by early cementation of intergranular pore spaces and by the presence of frequent structural discontinuities. By contrast microporous reservoir rock types contained preserved intragranular microporosity and matrix permeability, but had very few structural discontinuities. Observed vertical alternations of microporous and tight rock types are interpreted to have been controlled by the early diagenesis of the Urgonian carbonates. Deformation associated with regional-scale tectonic phases, including Albian – Cenomanian “Durancian” uplift (∼105 to 96 Ma) and Pyrenean compression (∼55 to 25 Ma), resulted in the modification of the initial petrophysical properties of the Urgonian limestones. An early diagenetic imprint conditioned both the intensity of structural deformations and the associated circulations of diagenetic and meteoric fluids. Evolution of the Reservoir Rock Types is therefore linked both to the depositional conditions and to subsequent phases of structural deformation.