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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.
Two types of spherical zirconyl oxalate aqueous sols were successfully customized by a reverse micelles-mediated aqueous sol-gel process, and the sols were sequentially spin-coated on porous supports to prepare ZrO2 loose/tight bilayer ultrafiltration membranes. After three times of spin-coating process, a defect-free ZrO2 loose ultrafiltration membrane with pure water permeability of 110.5 ± 2.25 L m?2 h-1 bar-1, molecular weight cut-off (MWCO) of 16.5 kDa and excellent rejection of up to 97.5 % for bovine serum albumin was fabricated. Then, the loose ultrafiltration membrane was used as a substrate to prepare ZrO2 tight ultrafiltration membrane. Performances of tight ultrafiltration membrane regarding to permeability, retention of polyethylene glycol and treatment of dyes wastewater were evaluated. The tight ultrafiltration membrane with a thickness of 200 nm exhibited a pure water permeability of 22.5 ± 0.3 L m-2 h-1 bar-1 and MWCO of 1150 Da. Additionally, the rejections of methyl red and methyl orange by the tight ultrafiltration membrane were both <65 %, while of alizarin red, direct red, bromocresol green and methyl blue achieved maximum values of 98.5 %, 99.2 %, 99.5 % and 99.6 %, respectively. The fouled membranes could restore the virgin performance for reuse by cleaning and low-temperature calcination.  相似文献   
3.
To prevent the adulteration of agricultural resources and provide a solution to enhance the green coffee bean supply chain, authentication using the near-infrared spectroscopy (NIRS) technique was investigated. Partial least square with discrimination analysis (PLS-DA) models combined with various preprocessing methods were built from NIR spectra of 153 Vietnamese green coffee samples. The model combined with the standard normal variate and the first order of derivative yielded excellent performance in predicting coffee species with the error cross-validation of 0.0261. PLS-DA model of mean centre and first-order derivative spectra also yielded good performance in verifying geographical indication of green coffee with the error of 0.0656. By contrast, the predicting abilities of post-harvest methods were poor. The overall results showed a high potential of the NIRS in online authentication practices.  相似文献   
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Lactobacillus plantarum proliferates inefficiently in milk, mainly because of its lack of cell envelope proteases and its inability to hydrolyse proteins in milk. Our previous study showed that this strain could grow well in milk with the addition of oat and malt extracts. To investigate the usage and preference for polypeptides and oligopeptides for this strain, sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE), o-phthaldialdehyde (OPA), high-performance liquid chromatography (HPLC), plate counting and other methods were used in this study. The results showed that proteins in fermented milk cannot be absorbed and utilised by L. plantarum, whereas polypeptides and oligopeptides provide available nitrogen sources for their growth. Short-chain peptides were more conducive to absorption and utilisation than long-chain peptides. In particular, peptides with molecular weights in the range of 200–1400 Da in the oat extract and 100–700 Da in the malt extract were preferentially absorbed and utilised.  相似文献   
6.
Microalgae is promising to be used as feedstock resources for hydrogen production due to its high oil and grease contents. This promotes the development of extraction technology of microalgae oil. In this study, based on the Rayleigh-Plesset equation, the effects of temperature, pressure, ultrasonic power and frequency on the bubble motion of ethanol ultrasound cavitation are investigated. Subsequently, the effects of different process parameters on the extraction rate are studied using Schizochytrium sp. as raw material by stirring or ultrasonic-assisted extraction. And the composition of algae extraction oil is analyzed. The results show that the amplitude of cavitation bubbles increases with the increase of ultrasonic power and decrease of ultrasonic frequency. The extraction rate of algae oil reaches 93.76 ± 0.48% when the ultrasonic power is 150 W, the reaction time is 30 min, the temperature is 50 °C and the liquid-solid ratio is 10:1.  相似文献   
7.
Transition metal phosphides (TMPs) have been considered as cheap alternatives of precious metal platinum for electrochemical hydrogen evolution reaction (HER). In the past decades, many reports have indicated that the engineering of heterointerfaces between different components could efficiently enhance the activity of HER catalysts. Here, we report a facile method to construct Ni12P5–Ni2P heterostructure by using a low temperature phosphorization strategy. The obtained Ni12P5–Ni2P heterostructure shows high activity toward HER with an overpotential value of 166 mV at 10 mA cm?2 and a Tafel slope of 60 mV dec?1 in 0.5 M H2SO4. Compared with pure Ni2P and Ni12P5, the Ni12P5–Ni2P heterostructure has more active sites and faster HER kinetics due to the presence of the interfaces between Ni12P5 and Ni2P. Furthermore, we used the obtained Ni12P5–Ni2P as cathodic catalyst and IrO2/Ti as anodic material to set up a proton exchange membrane (PEM) electrolyzer which shows good stability after 120 h continuous constant current electrolysis at 200 mA cm?2. This work demonstrates the positive effect of heterostructure for HER catalysts and provides a feasible strategy for constructing earth-abundant electrocatalysts.  相似文献   
8.
鉴于架桥机发生前倾或侧翻事故较多,对其在风载作用下的结构动态响应进行了研究.首先构建了具有指数风廓线和Kaimal脉动风功率谱特性的风场模型,并采用FFT技术得到自然风风载时程曲线;其次,针对风载情况下JQ900A型架桥机架桥的4种危险工况,建立了架桥机的有限元模型,通过静力学分析进一步确定危险工况下整机的危险部位;最终将风载作为输入条件,对架桥机进行瞬态动力学分析,研究其危险部位的位移及应力特性.结果表明:轴线方向风载对架桥机结构动态响应影响最大,并且架桥机其他方向上稳定性和自身阻尼作用更强,因此更容易发生前倾事故.当处于半载和落梁工况时,主梁和前支腿的动态响应尤为明显,是实时监测和结构改进的重点.  相似文献   
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10.
本文利用分子动力学方法研究了GaN在质子辐照下的损伤。对不同能量(1~10 keV)初级离位原子(PKA)引起的级联碰撞进行了研究,分析了点缺陷与PKA能量的关系、点缺陷随时间的演化规律、点缺陷的空间分布及点缺陷团簇的尺寸特征。研究结果表明,点缺陷的产生与PKA能量呈线性关系,不同类型的点缺陷随时间演化规律相似,点缺陷多产生在PKA径迹旁,点缺陷团簇多为孤立的点缺陷和小团簇。  相似文献   
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