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.     

Amaranth functional cookies exert potential antithrombotic and antihypertensive activities

In this study, amaranth flour was used as an ingredient to prepare gluten-free cookies. The production process and attributes of amaranth cookies were characterised, and the potential use of amaranth flour as a functional ingredient was analysed. Cookies exhibited a non-uniform reddish brown colour and a cookie factor ratio of 4.5 ± 0.6. Storage studies indicated that after 3 weeks at room temperature cookies presented slight variations in the texture. Simulated gastrointestinal digestion of this product was able to release peptides capable of exerting potential antithrombotic and antihypertensive activities, IC₅₀ values of 0.22 ± 0.04 and 0.23 ± 0.03 mg mL⁻¹ protein, respectively. This work demonstrates for the first time that food made with amaranth flour exerts potential antithrombotic and antihypertensive activity. In conclusion, these amaranth cookies could be an alternative way of incorporating potentially health beneficial products for people who choose a conscious diet, including coeliac or vegan consumers.     

Quality enhancement of the abundant under‐valued crustacean,lobster krill (Munida spp.), during its chilled storage

Lobster krill (Munida genus) represents an under‐valued crustacean frequently caught on European fishing banks. In this work, its sensory, microbiological and biochemical qualities were evaluated during chilled storage. Additionally, the effects of a prestorage antimelanosic treatment consisting of soaking in sodium metabisulphite (SMB) solutions at two different concentrations (0.25% and 0.75%) were also studied. SMB prestorage treatment provided lobster specimens that still exhibited acceptable sensory quality after 10 days of storage, while control specimens were unacceptable at that time. SMB treatment also resulted in a significant (P < 0.05) inhibition of microbial growth, mainly of Enterobacteriaceae, psychrotrophes and proteolytic bacteria. Low lipid oxidation levels were observed for all batches; however, a significantly higher (P < 0.05) retention of polyunsaturated fatty acids was found in SMB‐treated lobster, especially in the 0.75% SMB batch. The results presented here open the way to the potential commercialisation of currently under‐utilised lobster krill as a chilled product.     

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.