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61.
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.  相似文献   
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In this paper, we present a novel memory access reduction scheme (MARS) for two-dimension fast cosine transform (2-D FCT). It targets programmable DSPs with high memory-access latency. It reduces the number of memory accesses by: 1) reducing the number of weighting factors and 2) combining butterflies in vector-radix 2-D FCT pruning diagram from two stages to one stage with an efficient structure. Hardware platform based on general purpose processor is used to verify the effectiveness of the proposed method for vector-radix 2-D FCT pruning implementation. Experimental results validate the benefits of the proposed method with reduced memory access, less clock cycle and fewer memory space compared with the conventional implementation.  相似文献   
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Alcohol-free beer with isotonic properties is getting more popular and its production can be carried out by different production strategies; however, interrupted fermentation is still a challenge. Therefore, the objective of this study was to develop a low-alcohol isotonic beer (<0.5% v/v) by interrupted fermentation. Moreover, the major objective is to compare the developed product to commercial beverages (sports drinks, ‘Pilsen' regular beer, alcohol-free beers and low-alcohol isotonic beer). The beverages were evaluated based on pH, alcohol content (% v/v), total titratable acidity (mEq L−1), osmolality (mOsmol kg−1), bitterness International Bitterness Units, colour European Brewery Convention, total phenolic compounds (mg L−1 gallic acid), reducing and total sugars (%) and Na and K contents (mg L−1). The developed low-alcohol isotonic beer presented characteristics similar to sports drinks, with the advantage of being richer in phenolic compounds and suitable osmolality. Despite salts were added in its formulation, the grades attributed to all beers employed in the sensory evaluation, as well as the purchase intention did not present significant differences.  相似文献   
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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.  相似文献   
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Topics in Catalysis - In this work, a simple thermal-catalytic system was used to valorize peanut shells (Arachis hypogaea), the residual biomass from the peanut industry. To accomplish this...  相似文献   
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Polymer Bulletin - In this study, we synthesized a new ion-imprinted polymer (IIP) based on introduction of amidoxime groups in acrylonitrile, complexation with Cd2+ ions and polymerization with...  相似文献   
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