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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.
Colorectal cancer (CRC) is the third most deadly cancer worldwide, and inflammatory bowel disease (IBD) is one of the critical factors in CRC carcinogenesis. IBD is responsible for an unphysiological and sustained chronic inflammation environment favoring the transformation. MicroRNAs (miRNAs) belong to a class of highly conserved short single-stranded segments (18–25 nucleotides) non-coding RNA and have been extensively discussed in both CRC and IBD. However, the role of miRNAs in the development of colitis-associated CRC (CAC) is less clear. The aim of this review is to summarize the major upregulated (miR-18a, miR-19a, miR-21, miR-31, miR-155 and miR-214) and downregulated (miR-124, miR-193a-3p and miR-139-5p) miRNAs in CAC, and their roles in genes’ expression modulation in chronic colonic-inflammation-induced carcinogenesis, including programmed cell-death pathways. These miRNAs dysregulation could be applied for early CAC diagnosis, to predict therapy efficacy and for precision treatment.  相似文献   
3.
建立高效液相色谱法检测伐地昔布的有关物质.采用α-酸性糖蛋白键合硅胶的手性色谱柱,以乙腈-醋酸铵缓冲液(0.01 mol/L,pH4.0)作为流动相进行梯度洗脱,检测波长215 nm.伐地昔布与5个已知杂质均可达到基线分离,在各自浓度范围内线性关系良好,平均回收率95.13%~99.77%,RSD1.10%~1.77%,检测限0.017 9~0.060 1 μg/mL,定量限0.059 7~0.200 0 μg/mL.方法专属性强,准确度好,灵敏度高,可为伐地昔布的质量控制及后续分离提纯和帕瑞昔布的质量控制提供指导.  相似文献   
4.
Gecko-inspired microfibrillar adhesives have achieved great progress in microstructure design and adhesion improvement over the past two decades. Space applications nowadays show great interest in this material for the characteristics of reversible adhesion and universal van der Waals interactions. However, the impact of harsh environment of space on the performance of microfibrillar adhesives, especially the extreme low temperature, is rarely addressed. Herein, microfibrillar adhesives fabricated by phenyl containing polydimethylsiloxane (p-PDMS) elastomers with superior low-temperature reversible adhesion is proposed. p-PDMS elastomers are synthesized through one-pot anionic ring-opening copolymerization, and the resulting elastomers become non-crystallizable with excellent low-temperature elasticity. Low-temperature adhesion tests demonstrate that the adhesion strength of microfibrillar adhesives fabricated by p-PDMS elastomers can be well maintained to as low as −120 °C. In contrast, the adhesion strength of pure PDMS microfibrillar adhesive reduces more than 50% below its crystallization temperature. The low-temperature cyclic adhesion tests further demonstrate that p-PDMS microfibrillar adhesives exhibit superior reversible adhesion compared to that of PDMS microfibrillar adhesives, owing to the sustainable conformal contact and even distribution of loads over repeated cycles. This study provides a new fabrication strategy for microfibrillar adhesives, and is beneficial for the practical application of microfibrillar adhesives.  相似文献   
5.
SrF2 transparent ceramic is a promising upconversion material due to the low phonon energy. The effect of different sintering temperatures on Er:SrF2 transparent ceramics was investigated. The suitable sintering temperature for Er:SrF2 transparent ceramics was 900 °C by hot-pressed sintering in this study. High quality of Er:SrF2 transparent ceramics with different doping concentrations were obtained. The upconversion luminescence spectra and decay behavior were compared between Er:SrF2 and Er:CaF2 transparent ceramics with different Er3+ doping concentration. The green emission of 5 at.% Er:SrF2 ceramic was much stronger than that of 5 at.% Er:CaF2 ceramic, while the red emission of Er:SrF2 ceramic was almost the same as that of Er:CaF2 ceramic. The upconversion luminescence lifetime of Er:SrF2 transparent ceramics was longer than that of Er:CaF2.All the results indicated Er:SrF2 transparent ceramics was a candidate for green fluorescent upconversion materials.  相似文献   
6.
为避免传统均匀采样方法因忽视曲线重要特征而生成不理想的采样结果,获得给定数量且由特征点和辅助点组成的采样点序列,提出基于特征识别的高质量空间曲线非均匀采样方法.首先使用抛物线插值法得到曲线上所有曲率极大值点和挠率极大值点的近似位置,经筛选后产生特征点,以更好地抓住空间曲线的轮廓特征.然后定义基于弧长、曲率和挠率加权组合的特征函数,并以此自适应地选取曲线上的辅助点.与3种主流采样方法比较的实验结果表明,该方法能够获得更高质量的采样结果且具有更好的实用性,从而进一步改善空间曲线的B样条拟合效果.  相似文献   
7.
This study investigated the effect of 5 freeze–thaw cycles (freezing at −18°C for 12 h and then thawing at 4°C for approximately 12 h) on the meat quality, proximate composition, water distribution and microstructure of bovine rumen smooth muscle (BSM). As the number of freeze–thaw cycles increased, BSM pH, shear force, water content and protein content decreased by 3.06%, 35.50%, 14.49% and 21.11%, respectively, whereas BSM thawing loss, cooking loss, pressing loss, total aerobic count (TAC), ash content and fat content increased by 108.12%, 47.75%, 78.33%, 90.99%, 105% and 35.20%, respectively. The freeze–thaw cycles resulted in greater protein and lipid oxidation, as evidenced by a 36.46% reduction in the sulfhydryl content and a 209.06% and 338.46% increase in the carbonyl and malondialdehyde contents, respectively. Ice crystal formation disrupted the structural integrity of the muscle tissue. Low-field nuclear magnetic resonance results showed that the freeze–thaw cycles prolonged the relaxation times (T2b, T21 and T22), indicating that immobile water shifted to free water, and consequently, free water mobility increased. After 3 freeze–thaw cycles, the decline in shear force slowed, the increase in thawing loss became accelerated, and the TAC approached the domain value (6 log colony-forming units/g). Therefore, the number of freeze–thaw cycles of smooth muscle during transport, storage and distribution should be controlled to 3 or fewer. The current results provide a theoretical basis and data support for the further utilisation and culinary processing of smooth muscle.  相似文献   
8.
针对现有方法在轴承变工况方面存在的诊断精度低、人工提取特征不充分等问题,提出了基于卷积深度置信网络(convolutional deep belief network,简称CDBN)与改进核极限学习机 (improved Kernel?based extreme learning machine,简称IKELM)的滚动轴承故障智能识别方法。首先,由卷积深度置信网络对原始信号内的故障特征进行深层自适应提取;其次,利用等距特征映射对提取的多维特征进行降维,去除冗余特征信息;然后,采用改进的核极限学习机对特征进行分类,使用粒子群(particle swarm optimization, 简称PSO)对模型重要参数进行优化,实现滚动轴承变工况下的故障识别;最后,将所提方法应用于不同工况下多种轴承故障的诊断。实验结果表明,该方法能够智能有效地识别变工况的轴承故障,诊断结果优于已有的智能故障诊断方法。  相似文献   
9.
The changes in polyphenol fractions after in vitro fermentation of apple peel polyphenol (APP) by gut microbiota as well as the effects of APP on the growth, pH value, short-chain fatty acids (SCFAs) production and intestinal flora composition of gut microbiota fermentation were firstly explored in this study. The relative abundance of Lactobacillus in the APP group was 49.55% with an increment of 49.40% compared with the blank group, while that of Bifidobacterium was 13.32%. Moreover, the flora produced 37.093 ± 0.478 mM of SCFAs including acetic acid, propionic acid, butyric acid and valeric acid during the process of fermentation, thus reduced the environmental pH value. In addition, polyphenol fractions in APP were altered by gut microbiota fermentation to some extent, for example, glycosides were hydrolysed to aglycones. These findings suggested APP as a potential prebiotic agent to alleviate the disorder of intestinal flora.  相似文献   
10.
Acid–base transport is integral to many important interfacial reactions in various fields of chemistry, but its theoretical foundation is lacked. Herein, a common acid–base transport model is established owing to the success in deriving buffer transport equations. This model is applicable to most buffer systems by flexibly integrating the transport equations in terms of buffer components, and is verified through the model relationships of buffer transport limiting current by using hydrogen evolution reaction experiments. Based on model calculations, two diagram approaches are proposed to depict the dynamic pH response and aid buffer operation optimizations. The model and methods allow us to quantify the rate-limiting effect of acid–base transport on interfacial reactions and to precisely control the effect through medium regulations. Furthermore, the model has laid the foundation of dynamic pH effect on species transformation and process mechanism, which can be of wide interest in the chemistry encompassing interfacial reactions.  相似文献   
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