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.     

特种工程胎硫化外胎质量缺陷原因分析以及解决措施

我公司使用的硫化机采用氮气定型,二次水硫化的工艺。由于特种工程胎胎体偏厚且大,成型机都比较大,生产过程中的帘布筒、钢丝、胎侧等部件都比较重且大。成型胎面使用胎面缠绕机缠绕,所以整个生产过程难度较大。特种工程胎硫化外胎的主要质量问题有:胎面皮泡、胎侧缺胶、胎侧泡、胎肩侧皮泡、子口内侧露线、子口缺胶、胎肚内缺(窝气)、胎肚露线、胎肚皮泡、胎肚串泡、子口支边、胎冠支边、子口鼓包、外胎花缺等。通过对特种工程胎硫化外胎质量缺陷原因分析,找到相应的解决措施,从而减少硫化外胎质量缺陷。     

Inconel 690传热管GTAW对接焊接头组织及力学性能研究

对Inconel 690传热管材进行钨极气体保护焊(GTAW)对接焊,采用拉伸试验机、压扁试验机和光学显微镜测试和分析传热管焊接接头,同时利用ANSYS软件开展焊接接头在设计工况失压时的一次应力强度校核。研究结果表明:焊缝中心为树枝胞状晶,熔合线附近为粗大柱状晶。室温时接头的平均抗拉强度为619 MPa,平均屈服强度为292 MPa,350℃时接头平均抗拉强度为475 MPa,平均屈服强度为206 MPa,拉伸接头断裂从熔合区开始贯穿整个焊缝组织,呈塑性断裂。压扁试验和反向压扁试验结果表明管接头完好。通过ANSYS分析可知,设计工况下传热管接头350℃许用应力强度150 MPa限值可满足其一次应力强度要求,且裕量较大。     

基于层次化语义框架的知识库属性映射方法

面向知识库的自动问答是自然语言处理的一项重要任务,其旨在对用户提出的自然语言形式问题给出精练、准确的回复。目前由于缺少数据集,存在特征不一致等因素,导致难以使用通用的数据和方法实现领域知识库问答。因此,该文将“问题意图”视作不同领域问答可能存在的共同特征,将“问题”与三元组知识库中“关系谓词”的映射过程作为问答核心工作。为了考虑多种层次的语义并避免重要信息的损失,该文分别将“基于门控卷积的深层语义”和“基于交互注意力机制的浅层语义”通过门控感知机制相融合。在NLPCC-ICCPOL 2016 KBQA数据集上的实验表明,该文方法与现有的CDSSM和BDSSM方法相比,效能有明显提升。此外,该文通过构造天文常识知识库,将问题与关系谓词映射模型移植到特定领域,结合Bi-LSTM-CRF模型构建了天文常识自动问答系统。     

Metal chlorides-promoted ammonia absorption of deep eutectic solvent

Ammonia is considered as a promising hydrogen or energy carrier. Ammonia absorption or adsorption is an important aspect for both ammonia removal, storage and separation applications. To these ends, a wide range of solid and liquid sorbents have been investigated. Among these, the deep eutectic solvent (DES) is emerging as a promising class of ammonia absorbers. Herein, we report a novel type of DES, i.e., metal-containing DESs for ammonia absorption. Specifically, the NH₃ absorption capacity is enhanced by ca. 18.1–36.9% when a small amount of metal chlorides, such as MgCl₂, MnCl₂ etc., are added into a DES composed of resorcinol (Res) and ethylene glycol (EG). To our knowledge, the MgCl₂/Res/EG (0.1:1:2) DES outperforms most of the reported DESs. The excellent NH₃ absorption performances of metal–containing DESs have been attributed to the synergy of Lewis acid–base and hydrogen bonding interactions. Additionally, good reversibility and high NH₃/CO₂ selectivity are achieved over the MgCl₂/Res/EG (0.1:1:2) DES, which enables it to be a potential NH₃ absorber for further investigations.     

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.     

Simply constructed highly dispersed cobalt nanoparticles in diverse N-doped graphitic carbon with remarkable performances for water electrolysis

Metal/carbon composite materials are highly promising electrocatalysts for water electrolysis. In this work, three composites of metal cobalt nanoparticles highly dispersed in N-doped carbon materials were facilely constructed by pyrolysis of different phenylenediamine based Schiff base-Co complexes (PDBs). Interestingly, the composites derived from PDBs based on different phenylenediamine exhibited different morphologies. The superior case is that rodlike composite catalyst was derived from o-phenylenediamine based PDBs. The obtained catalyst exhibited remarkable performances for both cathodic hydrogen evolution reaction (HER) and anodic oxygen evolution reaction (OER), as well as overall water electrolysis. Only 172 and 289 mV of overpotentials and 1.57 V of cell voltage were exhibited at 10 mA cm^?2 for HER, OER and water splitting in 1.0 M KOH, respectively. The catalyst also displayed robust stability and high Faraday efficiency, and thus are potential high-performance catalyst for commercial water electrolysis.     

Acid–base transport model depicting the dynamic pH response of interfacial reactions

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.     

Excision of Oxidatively Generated Guanine Lesions by Competitive DNA Repair Pathways

The base and nucleotide excision repair pathways (BER and NER, respectively) are two major mechanisms that remove DNA lesions formed by the reactions of genotoxic intermediates with cellular DNA. It is generally believed that small non-bulky oxidatively generated DNA base modifications are removed by BER pathways, whereas DNA helix-distorting bulky lesions derived from the attack of chemical carcinogens or UV irradiation are repaired by the NER machinery. However, existing and growing experimental evidence indicates that oxidatively generated DNA lesions can be repaired by competitive BER and NER pathways in human cell extracts and intact human cells. Here, we focus on the interplay and competition of BER and NER pathways in excising oxidatively generated guanine lesions site-specifically positioned in plasmid DNA templates constructed by a gapped-vector technology. These experiments demonstrate a significant enhancement of the NER yields in covalently closed circular DNA plasmids (relative to the same, but linearized form of the same plasmid) harboring certain oxidatively generated guanine lesions. The interplay between the BER and NER pathways that remove oxidatively generated guanine lesions are reviewed and discussed in terms of competitive binding of the BER proteins and the DNA damage-sensing NER factor XPC-RAD23B to these lesions.     

Influence of tetraploid wheat (Triticum dicoccum) on low glycaemic index pizza base processing and its starch digestibility

The present study aimed to utilise Dicoccum wheat (DW), barley (BF) and soya flour (SF) in the development of low in vitro starch digestibility (IVSD) and estimated glycaemic index (EGI) PB. The BF and SF are mixed (1:1) (BFSF) and used to replace DW at 25%, 50% and 75% level and compared with 100% DW. The quality characteristics (rheological, physical, textural and chemical), IVSD and EGI of PB were determined. The incorporation of BFSF to DW increased the farinograph water absorption capacity (58.1%–64.2%) and mixing tolerance index (21-68 FU), and decreased the dough development time (4.3–2.8 min) and amylograph pasting properties, respectively. Further, the thickness, shear force and redness were decreased and lightness and yellowness increased. Based on the physico-sensory studies, 50% of BFSF along with emulsifier’s incorporation was optimum without affecting any sensory parameters and this PB had decreased IVSD (31) and EGI (54) when compared to the control 37 and 63, respectively.