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.     

Reduction of sidelobe levels in multicarrier radar signals via the fusion of hill patterns and geometric progression

Multi-carrier waveforms have several advantages over single-carrier waveforms for radar communication. Employing multi-carrier complementary phase-coded (MCPC) waveforms in radar applications has recently attracted significant attention. MCPC radar signals take advantage of orthogonal frequency division multiplexing properties, and several authors have explored the use of MCPC signals and the difficulties associated with their implementation. The sidelobe level and peak-to-mean-envelope-power ratio (PMEPR) are the key issues that must be addressed to improve the performance of radar signals. We propose a scheme that applies pattern-based scaling and geometric progression methods to enhance sidelobe and PMEPR levels in MCPC radar signals. Numerical results demonstrate the improvement of sidelobe and PMEPR levels in the proposed scheme. Additionally, autocorrelations are obtained and analyzed by applying the proposed scheme in extensive simulation experiments.     

Spirobifluorene Dimers: Understanding How The Molecular Assemblies Drive The Electronic Properties

Spirobifluorene (SBF) is one of the most important scaffolds used in the design of organic semi-conductors (OSCs) for electronics. In recent years, among all the structures developed for these applications, SBF dimers have been highlighted due to their great potential in thermally activated delayed fluorescence and in phosphorescent organic light-emitting diodes. Attaching two SBF units generate 10 dimers, each possessing its own structural specificity, which in turn drives its electronic properties. These ten SBF dimers are gathered herein. Understanding how the molecular assembly determines the electronic properties has been one of the pillars of organic electronics. This is the goal of this article. As positional isomerism is a key tool to design OSCs, defining the design guidelines for the SBF scaffold appears of interest for the future of this building block. Herein, the importance of the two main parameters involved in the electrochemical and photophysical properties, namely the nature of the phenyl linkages and the steric congestion between the two SBF units is discussed. The combination of these two parameters drives the electronic properties but their respective weight is different as a function of the regioisomer involved or of the property considered (frontier orbitals energy level, absorption, fluorescence, phosphorescence).     

Genetic and genomic analysis of age at first insemination in Israeli dairy cattle

We performed a genetic analysis of age at first insemination, including estimation of the heritability and genetic correlations with other economic traits, and the consequences of including this trait in the Israeli selection index. The genetic factors affecting age at first insemination were determined via GWAS. Five data sets were analyzed. Data sets 1, 2, and 3 were used to compute variance components among age at first insemination, first calving age, days from first insemination to calving, and the 9 traits included in the Israel breeding index. Heritabilities for age at first insemination, calving age, and days from first insemination to calving in Israeli Holsteins as computed by REML individual animal model analyses of 273,239 Israeli Holstein cows were 0.072, 0.042, and 0.014. The estimated genetic correlation between the first 2 traits was 0.88. In addition to the fact that heritability of age at first insemination is 1.7 times the heritability for calving, the former trait has the advantage that the number of records is greater, and the records are generated earlier. Absolute values of the genetic and residual correlations between age at first insemination and the 9 traits included in the Israeli index were all less than 0.2. Data set 4 included first insemination dates of 1,181,600 calves born from 1985 through 2018. Genetic evaluations were computed by a single trait animal model. Annual phenotypic and genetic trends for age at first calving for calves born since 1985 were “positive,” that is, economically negative, at 0.320 ± 0.003 and 0.169 ± 0.005 d, respectively. Applying the GCTA-GREML software, 54% of variance in the transmitting ability of 1,585 sires could be explained by considering all 40,498 markers included in the GWAS analysis. The significant markers were mainly associated with milk production genes. The SNP UA-IFASA-8854 on chromosome 11 had the lowest probability value, 1.2 × 10^?24. This marker is located between the genes RETSAT and ELMOD3, both of which are overexpressed in human mammary glands. The gene RETSAT is reported to be essential for lipid accumulation and adipogenesis promotion. Gene enrichment analysis found that genes in the genomic region flanking significant markers are associated with vasopressin receptor activity, which was shown to mediate puberty in humans. If age at first insemination is included in the index with a weighting to account for 9% of the index, reductions of 2.8 and 2.6 d for age at first insemination and first calving age after 10 yr of selection are predicted, as compared with reductions of 1.4 and 1.1 d with the current index. Gains for the other index traits are only marginally affected. We suggest selection on age at first insemination as an alternative to selection for early calving.     

基于ERNIE-BiGRU模型的摘要语步自动识别研究

学术文献的摘要是对文献主要内容的浓缩,摘要不同部分的语步具有不同的信息,语步的自动识别和抽取对于学术摘要的后续研究有着重要的应用价值,而目前语步识别的研究相对较少,并且相关算法的效果还需要提高。针对上述问题,该文提出了一种基于ERNIE-BiGRU模型的语步识别算法。该算法首先结合中文句法分析理论提出基于句法依存关系的多语步结构拆分法,对学术文献摘要多语步结构进行自动拆分,获得多个单语步结构;然后构建用于训练的单语步结构语料库,并利用知识增强语义表示预训练模型,训练出句子级词向量;最后将训练出的单语步结构词向量信息输入双向门限循环单元(BiGRU)进行摘要语步自动化识别,取得了良好的效果。实验结果表明,该算法具有较好的鲁棒性和较高的识别精度,在结构化和非结构化摘要上的识别准确率分别达到了96.57%和93.75%。     

基于人脸卡口数据的行人共现关系图谱构建

随着人脸识别技术的不断进步以及人脸卡口的大范围且密集的部署, 本文针对团伙犯罪案件侦察这一应用场景, 对人脸卡口数据进行深入挖掘, 探究其中行人间的共现关系, 获取所关注的嫌疑人的现实社交网络, 锁定团伙其余人员. 经过实验比对和论证, 本文使用Chinese Whispers聚类算法对行人节点进行识别, 通过Faiss加速邻接边的构建, 加速图的初始化步骤, 解决其聚类效率低下的问题. 在此基础上, 使用共现频次和Apriori算法中的置信度挖掘行人间的共现关系, 构建行人共现关系图谱.     

Charge source and the charging mechanism of the contact electrification of polymer powder

The charge sources, as well as the charging mechanism of the contact electrification (CE) of polymers, are still debatable. Since CE is accompanied by destruction, it is considered that “hard contacting” via ball milling can induce covalent bond scission and produce naked-activated-charge sources. Regarding “soft contacting” via nano-scale sliding, which does not induce covalent bond scission, a frontier-electron, “f-electron,” of the naked-activated-charge source is crucial to electron transfer among the naked-activated-charge sources. Here, we configure naked-activated-charge-source models, naked-activated-mechano-anion, and naked-activated-mechano-cation, which are produced by mechanical energy induced heterogeneous covalent bond scission, as well as naked-activated-mechano-radicals that are produced by homogeneous covalent bond scission. Regarding “soft contacting” among naked-activated-charge sources in a vacuum, f-electron can be transferred from a donor to an acceptor if the energy level of the donor is higher than that of the acceptor. The net amount of the normalized transferred-f-electrons is obtained by adopting settings in which the average energy level of the naked-activated-charge sources (as the donors) is higher than that of the sources employed as acceptors. Thus, the surfaces comprising the donors and acceptors will exhibit positive and negative net surface charges, respectively. We conclude that net surface charges depend on the average energy level of naked-activated-charge sources. Further, we observe that the alignment of polyethylene (PE)-polyvinyl chloride (PVC)-polytetrafluoroethylene (PTFE) to the average energy level is identical to that of the triboelectric series.     

水-油连续螺旋折流板换热器热力性能研究

利用计算流体力学(Computational Fluid Dynamic, CFD)方法，针对连续螺旋折流板换热器建立物理模型和数学模型，在管侧介质为水和壳侧介质为原油条件下，研究不同原油流量及螺旋角对螺旋折流板换热器内部流场、换热性能及阻力性能的影响，并拟合了水油换热时螺旋折流板换热器的Nu、f与Re的关联式。结果表明：22°螺旋角的螺旋折流板换热器与其它较小螺旋角换热器对比，壳侧压降和换热系数逐渐减小，综合换热性能最佳。通过对壳侧原油为层流状态下的阻力系数和对流换热系数关系式进行拟合，更好地指导水-油连续螺旋折流板换热器的热力设计。     

Sustainable phenolic thermosets coatings derived from urushiol

The over-exploitation of finite fossil resources and/or the increased environmental and sustainable awareness inspire scientists and technologists to search for inexpensive alternatives from renewable chemicals. Phenol formaldehyde (PF) resins, the oldest type of synthetic polymers with good mechanical properties and heat resistance, are widely used in the production of coatings, laminates, molding compositions, and glues. Here, biobased urushiol-derived PF resins were synthesized from the alkali-catalyzed reaction between urushiol and formaldehyde. The chemical compositions and molecular structures of resole resins were characterized by carbon-13 nuclear magnetic resonance and Fourier transform infrared spectroscopy, and their curing behaviors were studied by differential scanning calorimetry. The as-prepared urushiol-derived resole resins had methylol (Ph−CH₂OH), ortho- and para-hemiformal groups (Ph−CH₂OCH₂OH), and the para−para/ortho−para/ortho−ortho links of methylene groups (Ph−CH₂−Ph), whereas the resole resins had low curing temperatures at about 100–113°C. Additionally, given the long side alkyl group moiety on the aromatic rings of urushiol, the films of cured urushiol-derived resole resins had low glass transition temperatures of 132 ± 2°C. Furthermore, the as-prepared urushiol-derived coatings exhibited excellent physical and mechanical properties.     

概念辨析：建筑评论的思辨实践

建筑评论是一项针对具体对象,将目之所及的事物背后不可视的背景、思想、价值判断、驱动力等,转化为可以言说、可以讨论、具有建筑学和文化社会意义的思辨性活动。[1]这项活动的基础工作之一是概念的辨析与运用。因此,在东南大学建筑学院开设的"建筑评论课",通过课程主题的组织,在帮助学生建立多维批评视野的同时,以概念辨析为切入点,通过基于精读、研究的写作训练,实现思辨性思维的培养、学术素养和写作的培训,以及对建筑评论和中国现当代建筑话语的理解。