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1.
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   
2.
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.  相似文献   
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Limiting current density at different temperatures, backpressures, and balance gases can be used to separate molecular diffusion resistance, Knudsen diffusion resistance and local transport resistance of membrane electrode assembly (MEA). However, the measurement of limiting current density has no unified protocol. The diverse choices in the literature, either in the control of current or voltage or in the atmosphere like relative humidity and O2 concentrations, make it difficult to compare the results and identify the true bottleneck hindering the mass transport. In this work, the current-voltage curves obtained by current scanning/stepping and voltage scanning/stepping methods under dilute O2 of different concentrations and a wide range of relative humidity were measured and analyzed systematically. It is found that the voltage stepping method is superior to the other three ways of control for the reliable determination of the limiting current density. Aided with simultaneous electrochemical impedance spectroscopy measurement, the limiting current density can be determined with pinpoint accuracy. When the limiting current density is just used to qualitatively evaluate different MEA, the voltage scanning method can be used instead for its high time efficiency. The selection of the atmosphere also plays an important role in suppressing the distortion from excessive water and reducing the spurious contribution from proton conduction resistance. It is found that O2 concentrations at 0.5 vol% and relative humidity at 90% can give the best estimation of O2 transport resistance in membrane electrode assembly.  相似文献   
5.
A series of ZnxNiyCrOm±δ catalysts were synthesized via a typical co-precipitation method, in which Zn-Cr layered double hydroxides (LDHs) were found and Ni-Zn intermetallic compound (IMC) was formed after reduction in hydrogen. During auto-thermal reforming (ATR) of acetic acid (HAc), the Ni-Zn IMC was transformed into Ni/(amorphous-ZnO)-ZnCr2O4 species with uniformed distribution and appropriate interaction within these Ni-Zn-Cr-O species; besides, the adsorbed oxygen promoted the activation and transfer of oxygen species; therefore, deactivation by oxidation, sintering and coking was inhibited. And the optimized Zn2.37Ni0.63CrO4.5±δ catalyst presented high activity and stability in a 45-h ATR test with HAc conversion near 100% and hydrogen yield at 2.7 mol-H2/mol-HAc, showing potential for hydrogen production via ATR of HAc.  相似文献   
6.
随着煤矿向深部发展,矿井动力灾害既表现出冲击地压的部分特征,又表现出冒顶的部分特征。2种典型的灾害打破以往冒顶与冲击地压的发生具有一种互为逆向性的认知规律,在深部高应力煤巷,特别是留顶煤巷道中出现了相互诱导、复合发生的新灾害类型。在总结山东、山西和新疆矿区典型巷道冲击致顶板(顶煤)动力灾害特征的基础上,提出了深部巷道冲击地压与冒顶复合灾害的概念、机理与分类,指出复合灾害机理关键点在于揭示巷道整体系统和破碎区子系统的稳定原理及其2者间的相互影响。建立了巷道发生复合灾害的力学模型,根据扰动响应失稳判据,提出并得到了巷道发生复合灾害的临界应力Pcr、临界软化区半径ρcr和最大容许采扰应力增量σmax,厘清了灾害发生的主控因素,分析了煤岩冲击倾向指数K、支护强度ps、巷道半径ρ0、煤岩强度σc等对灾害发生的影响规律,同时阐明了围岩塑性软化、破碎深度随地应力增加的发育规律。研究结果表明,破碎发育巷道的动力失稳主体为弹性区、软化区与破碎区构成的不稳定系统,垮落主体为破碎区;稳定的破碎区提升了巷道冲击启动临界值,使其启动难度增大,但破碎区的发育又易引起顶煤垮落;巷道稳定支护是解决复合灾害的关键,科学合理支护既能有效调控围岩破碎防冒,又能提升冲击启动临界值。通过理论研究,揭示了巷道冲击地压与冒顶复合灾害的发生机理,阐明了巷道软化与破碎区及其稳控支护对深部破碎发育巷道动力灾害防治的重要性。  相似文献   
7.
Recently, the routing problem in vehicular ad hoc networks is one of the most vital research. Despite the variety of the proposed approaches and the development of communications technologies, the routing problem in VANET suffers from the high speed of vehicles and the repetitive failures in communications. In this paper, we adjusted the well‐known K‐medoids clustering algorithm to improve the network stability and to increase the lifetime of all established links. First, the number of clusters and the initial cluster heads will not be selected randomly as usual, but based on mathematical formula considering the environment size and the available transmission ranges. Then the assignment of nodes to clusters in both k‐medoids phases will be carried out according to several metrics including direction, relative speed, and proximity. To the best of our knowledge, our proposed model is the first that introduces the new metric named “node disconnection frequency.” This metric prevents nodes with volatile and suspicious behavior to be elected as a new CH. This screening ensures that the new CH retains its property as long as possible and thus increases the network stability. Empirical results confirm that in addition to the convergence speed that characterizes our adjusted K‐medoids clustering algorithm (AKCA), the proposed model achieves more stability and robustness when compared with most recent approaches designed for the same objective.  相似文献   
8.
This study examines the extraction of beryllium and aluminium from a Nigerian beryl ore using Cyanex®272 in kerosene from an aqueous sulphate pregnant solution. Parameters such as extractant concentration and equilibrium pH that dictates the extraction yield were studied. Under the following conditions: temperature 27?±?2°C, phase ratio 1?1, about 45.50 and 46.76% of beryllium and aluminium were extracted by 0.15?mol?L?1 Cyanex®272 concentration within 30?min. However, the extraction yield of beryllium and aluminium was increased to 91.68% and 97.89% at equilibrium pH of 3 and 4, respectively, for beryllium and aluminium at 27?±?2°C. A 0.05?mol?L?1 H2SO4 solution was found to be adequate for the stripping of about 99.00% Be and 95.40% Al from the loaded organic phase. The pure solutions containing metal ions were accordingly beneficiated to obtain beryllium and aluminium compounds of industrial values.  相似文献   
9.
ABSTRACT

Community currencies are used to pay for products or services within specific groups defined by geographical boundaries or specific common interests. Financial crises, social emergence in developing countries, and increased access to digital devices have stimulated a growing number of communities worldwide to develop digital currency projects. These projects use technologies ranging from traditional plastic cards to mobile phones and blockchain technologies. Following the design science research approach, this paper analyzes digital community currencies (DCCs) by developing a taxonomy based on platform architecture, governance, transactionality and virtuality. By investigating 22 DCC platforms around the world, 4 groups were distinguished: local, proprietary, commons and cyber. The identification of these four different groups of digital community currencies allows us to better discuss the potentials and limitations of each one of them. The presented taxonomy can be useful to researchers and practitioners both to explain and to design DCC platforms. Discussing each of the emerging categories from the proposed taxonomy helps us to provide insights into DCCs, offering a new theoretical frame for investigating the particular case of digital payment platforms.  相似文献   
10.
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