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.     

Influence of pressure and dwell time on pressure-assisted sintering of calcium cobaltite

Calcium cobaltite Ca₃Co₄O₉, abbreviated Co349, is a promising thermoelectric material for high-temperature applications in air. Its anisotropic properties can be assigned to polycrystalline parts by texturing. Tape casting and pressure-assisted sintering (PAS) are a possible future way for a cost-effective mass-production of thermoelectric generators. This study examines the influence of pressure and dwell time during PAS at 900°C of tape-cast Co349 on texture and thermoelectric properties. Tape casting aligns lentoid Co349. PAS results in a textured Co349 microstructure with the thermoelectrically favorable ab-direction perpendicular to the pressing direction. By pressure variation during sintering, the microstructure of Co349 can be tailored either toward a maximum figure of merit as required for energy harvesting or toward a maximum power factor as required for energy harvesting. Moderate pressure of 2.5 MPa results in 25% porosity and a textured microstructure with a figure of merit of 0.13 at 700°C, two times higher than the dry-pressed, pressureless-sintered reference. A pressure of 7.5 MPa leads to 94% density and a high power factor of 326 µW/mK² at 800°C, which is 11 times higher than the dry-pressed reference (30 MPa) from the same powder.     

辊速差对连铸连轧7075铝板显微组织、织构及力学性能的影响

研究辊速差对连铸连轧7075铝板显微组织、织构及力学性能的影响。采用3种不同上辊/下辊转速比(ω/ω0,ω为上辊转速,ω0为下辊转速)1:1、1:1.2及1:1.4进行多次试验。结果显示,在最大辊速差条件下(ω/ω0=1:1.4),7075铝板在轧制方向的屈服强度和极限抗拉强度分别提高41.5%和21.9%。此外,当辊速比ω/ω0为1:1.4时,成品轧制板的平均晶粒尺寸减小36%,横剖面平均硬度增加约9.2%。织构研究结果显示,辊速差越大,成品各向同性及硬度越大。然而,采用不同辊速度的连铸连轧会导致变形板伸长率降低约6%。     

Investigation of using possibility of grape pomace in wafer sheet for wheat flour substitution

In this study, grape pomace (GP), a by-product consisting of grape skins and seeds rich in dietary fibres and polyphenols, was used in wafer sheets at different concentrations [5.00 (GP5), 10.0 (GP10), and 15.0 g 100 g⁻¹ (GP15)] for the partial replacement of wheat flour (WF) and improve the functionality of wafer sheets. The GP inclusion at concentrations higher than 5.00 g 100 g⁻¹ significantly affected the texture of sheets as well as the flow behaviour of batters, resulting in softer sheets and more viscous batters (P < 0.05). Moisture contents did not significantly change after GP addition (P > 0.05). After the addition of GP, the L* values decreased and the a* values increased, making the wafers darker (P < 0.05). Moreover, under simulated in vitro digestion conditions, the bioaccessibility of total phenolic compounds in saliva, gastric juice, and intestinal juice was significantly higher than control even at the lowest GP concentration (P < 0.05). Regarding sensory properties, only smoothness and crispness were significantly affected by GP addition, and samples were found to be crisper with higher concentrations of GP. In conclusion, it is possible to partially replace the WF in wafers with GP at a concentration of 5.00 g 100 g⁻¹ to develop a product with higher functionality and nutrient content.     

Phenolic profiling reveals the metabolite basis of flesh colour and fresh-cut browning in apple fruit

Flesh colour, which is affected by cultivars and browning, can largely impact consumer acceptance in fresh-cut apples. The study profiled phenolic metabolites from apple flesh of twenty-three cultivars by widely targeted metabolomics. Comparison among white- and yellow-fleshed cultivars showed fifteen phenolics, mainly quercetin 3-O-glucoside, hyperoside, hesperetin 5-O-glucoside and cymaroside, in white-fleshed apples were significantly higher than those in yellow-fleshed apples. It may indicate a metabolite basis of yellow and white flesh colour, and better potential nutrition in white-fleshed apples. In addition, ten phenolic metabolites including five cyanidin glycosides showed significant differences between the highest and the lowest browning groups, indicating them may be crucial in browning of fresh-cut apple. This work elucidates the differences of phenolic profiles among apple cultivars with different flesh colour and provides useful data to evaluate the suitability of apple for fresh-cut processing.     

Utilising grape juice processing by-products as bulking and colouring agent in white chocolate

In this study, grape pomace (mixture of grape seeds and skins) powder (GPP), obtained from grape processing, was used at different concentrations [10.0 (GPP10), 20.0 (GPP10) and 30.0 (GPP10) g/100 g] in white chocolate formulation for the partial replacement of sucrose. The results indicated that GPP addition at a higher concentration (>10.0 g/100 g) significantly affected the particle size, moisture content, texture and flow behaviour of white chocolate samples (P < 0.05). However, using GPP at a concentration of 10.0 g/100 g had advantages for physicochemical and flow properties. As expected, under simulated in vitro digestion conditions, the bioaccessibility of total phenolic compounds in saliva, gastric juice and intestinal juice for GPP10 samples was significantly higher than the control (P < 0.05). In conclusion, results of the study showed that it was possible to partially replace the sucrose with GPP at a concentration of 10.0 g/100 g in white chocolate formulations.     

Effects of high-pressure-modified soy 11S globulin on the gel properties and water-holding capacity of pork batter

The effects of high-pressure-modified soy 11S globulin (0.1, 200, and 400 MPa) on the gel properties, water-holding capacity, and water mobility of pork batter were investigated. The high-pressure-modified soy 11S globulin significantly increased (P < 0.05) the emulsion stability, cooking yield, hardness, springiness, chewiness, resilience, cohesiveness, the a^* and b^* values, and the G′ and G′′ values of pork batter at 80 °C, compared with those of 0.1 MPa-modified globulin. In contrast, the centrifugal loss and initial relaxation time of T_2b, T₂₁, and T₂₂ significantly decreased (P < 0.05). Meanwhile, the microstructure was denser, and the voids were smaller and more uniform compared with those of 0.1 MPa-modified globulin. In addition, the sample with 11S globulin modified at 400 MPa had the best water-holding capacity, gel structure, and gel properties among the samples. Overall, the use of high-pressure-modified soy 11S globulin improved the gel properties and water-holding capacity of pork batter, especially under 400 MPa.     

Effect of cooking temperature on texture and flavour binding of braised sauce porcine skin

To investigate the effect of cooking temperature (55, 65, 75, 85 and 95 °C) on texture and flavour binding of braised sauce porcine skin (BSPS), sensory acceptance, microstructure and flavour-binding capacity were investigated during the processing of BSPS. Samples cooked at 85 and 95 °C showed better texture and aroma scores. Hardness and chewiness of BSPS were obviously improved at 85 and 95 °C than control group. Collagen structure was significantly destroyed over 85 °C. The porcine skin collagen heated at 85 and 95 °C showed relatively higher flavour-binding capacity than other samples. The improvement of texture of BSPS was mainly attributed to the degradation of collagen. Higher aroma scores of BSPS were related to intense binding abilities with aroma compounds at 85 and 95 °C. Cooking at 85 or 95 °C could be an optimal cooking temperature for BSPS.