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.     

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SVD和SSA-VMD降噪的轴承故障特征提取

针对强噪声背景下轴承故障特征提取困难的问题，提出一种基于奇异值分解和参数优化变分模态分解联合降噪的轴承故障特征提取方法(SSVMD)：首先，对原始信号进行奇异值分解(Singular Value Decomposition，SVD)处理，运用奇异值差分谱法选取有效奇异值并将原始信号重构得到初步降噪信号；其次，为防止故障信息丢失，将残余信号进行麻雀算法(Sparrow Search Algorithm，SSA)优化的变分模态分解(Variational Mode Decomposition，VMD）算法处理，得到最佳的模态个数K和惩罚参数α，选取峭度值最大、包络熵最小的IMF分量与初步降噪信号叠加得到最终降噪信号，并对信号进行包络分析；最后，通过仿真和试验数据分析得出，该方法能在信噪比很低的情况下降低噪声含量并提取轴承故障特征，为设备的状态监测和故障诊断提供理论依据。     

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.     

煤基高能量密度燃料的合成及表征

高能量密度燃料是为新型高性能飞行器提供动力保障的关键,其合成及应用研究具有重要的前瞻性和重大战略意义。煤炭是我国的主体能源和重要原料,通过煤直接转化获取的煤基油,充分保留了煤中特有的环状分子化学结构,具有良好的热安定性和较高的能量密度,被认为是高超音速飞行器的优选燃料。以煤直接液化工艺生产的煤液化石脑油馏分为起始原料,通过富集轻质芳烃、化学合成、催化加氢稳定和产物分离提纯等方法制备煤基高能量密度燃料,并对其产物进行分子结构表征和性能评价。结果表明,煤直接液化生产的石脑油馏分是一种优异的催化重整原料,经催化重整富集轻质芳烃后,其轻质芳烃质量分数高达71.05%。Diels-Alder化学合成主产物是由多个封闭环平面组成且具有空间立体构型的二环或三环烃类物质,质量分数为46.18%,因分子内存在较大的张力能,结构紧凑,其拥有更大的密度和体积热值。煤基高能量密度燃料的密度和体积热值分别为0.8990 g/cm3与38.06 MJ/L,均大大超过现行的国内石油基喷气燃料(RP-3和RP-6)、煤基大比重喷气燃料、美国和俄罗斯军用标准。与单一纯物质合成高能量密度燃料(JP-10和T-10)比较,其密度与体积热值偏小。究其原因主要是轻质芳烃的富集度仅为71.05%,需进一步提高其轻质芳烃质量分数。另外,制备的煤基高能量密度燃料种类复杂,其主产物质量分数仅46.18%,下一步可重点调控合成产物的分子构型和纯化分离。     

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。     

Indoor solid fuel use for heating and cooking with blood pressure and hypertension: A cross-sectional study among middle-aged and older adults in China

A cross-sectional study was conducted to investigate the impact of solid fuel use for heating and cooking on blood pressure (BP) and hypertension, using data from the China Health and Retirement Longitudinal Study (CHARLS). The primary fuels used for indoor heating and cooking were collected by questionnaires, respectively. Hypertension was defined based on self-report of physician's diagnosis, and/or measured BP, and/or anti-hypertensive medication use. Multivariate logistic regression models were constructed to assess the associations. Among 10 450 eligible participants, 68.2% and 57.2% used indoor solid fuel for heating and cooking, respectively. Compared with none/clean fuel users, solid fuel for heating was associated with elevated BP (adjusted β: 2.02, 95% CI: 1.04–3.01 for systolic BP; adjusted β: 1.36, 95% CI: 0.78–1.94 for diastolic BP) and increased risk of hypertension (adjusted odds ratio: 1.15, 95% CI: 1.03–1.29). The impact of indoor solid fuel for heating on BP was more evident in rural and north residents, and hypertensive patients. We did not detect any significant associations between solid fuel use for cooking and BP/hypertension. Indoor solid fuel use is prevalent in China, especially in the rural areas. Its negative impact on BP suggested that modernization of household fuel use may help to reduce the burden of hypertension in China.     

The assessment of commercial beef and chicken bouillons in terms of heterocyclic aromatic amines and some of their precursors

Herein, the assessment of commercial beef and chicken bouillons in terms of heterocyclic aromatic amines (HAAs) and some of their precursors was evaluated. Creatine and creatinine levels were ranged between 0.57–0.80 and 0.28–0.94 mg g⁻¹, respectively. Glutamic acid was found to be the most abundant amino acid in both bouillons. 2-amino-3,7,8-trimethylimidazo[4,5-ƒ]quinoxaline (7,8-DiMeIQx, up to 0.03 ng g⁻¹) was the only quantified analyte in beef bouillons, whereas it (up to 0.08 ng g⁻¹) was determined in addition to 2-amino-3-methylimidazo[4,5-ƒ]quinoxaline (IQx, up to 0.08 ng g⁻¹) in chicken bouillons. Creatine, creatinine and free amino acid composition did not have the capacity to initiate the formation of HAAs. Therefore, bouillons do not pose risk in terms of HAAs. However, it should be noted that multiple factors, such as the substrate amount and production conditions, may affect the results. Glutamic acid content is remarkable in commercial bouillons sold in Turkey.