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.     

关于COVID-19、膜脂质与公众健康（网络首发、推荐阅读）

冠状病毒具有一层脂质膜。虽然复制需要劫持宿主的RNA工具来合成病毒体蛋白，但必须将其包裹在脂质膜中，促其萌生以扩展感染。最近研究表明，某些必需脂肪酸可以抑制其复制活性。脂质膜通常被认为是水溶物的脂肪屏障，但它对细胞和亚细胞的功能是高度有序和组分特异性的，其对病毒外壳可能也有最佳的特异性。虽然复制中DNA、RNA和蛋白质组成不受饮食影响，但脂质膜受其影响。此外，自1960年代以来，人们就知道男性对这些必需脂肪酸和膜完整性不足的敏感性高于女性。有证据表明，花生四烯酸和二十二碳六烯酸具有抗病毒、免疫、抗炎、控制血压和消退素活性，因此，迫切需要考察它们在Covid-19预防和治疗中的地位，也需重新评估现行的膳食指导。当前，有关脑、神经、血管和免疫系统等富含膜系统对脂质需求还尚未被详细认识。毫无疑问，这些脂质在几百万年来塑造人类基因组方面具有重要意义，因此，如果这些膜脂质失衡将会使人类面临机体紊乱和感染风险，且男性比女性风险更大。     

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.     

温州某公轨共建高架车站结构设计

为了解决城市廊道资源的紧张和公共交通发展需求的矛盾,出现了轨道交通和快速路的共建型式,即公轨共建的复合型交通模式,以温州市域铁路S2线一期工程的人民路站为例,研究公轨共建高架车站的结构设计要点。首先,为降低浅层气体对桩基的承载力及沉降影响,对遇到局部浅层气体发育的基础设计提供了合理的解决方案。然后针对公轨共建一体化车站分别进行了多遇和罕遇地震作用分析,研究表明构件及整体指标满足规范要求。最后针对工程的一些关键技术,如快速路桥面体系的选型、超长结构温度应力的控制措施、轨道梁挠度及应力的控制、快速路桥面振动对车站的影响等进行了分析,并给出了具体的解决方案和指导意见。     

武汉市一般人群血清中全氟及多氟烷基化合物浓度及其影响因素研究

目的 了解武汉市一般人群血清中全氟及多氟烷基化合物(PFASs)浓度,探索血清中PFASs浓度水平的影响因素。方法 以在武汉市某医院进行一般体检的人群为研究对象(n=67),通过超高效液相色谱-三重四级杆质谱(UPLC-TQ/MS)联用仪测定外周血清中12种PFASs浓度,采用多元线性回归分析方法分析一般人口学特征和血清中PFASs浓度的关联性。结果 武汉市一般人群血清中12种PFASs的平均浓度水平为11.60 ng/mL。全氟辛烷磺酸及其盐类(PFOS)和全氟辛酸及其盐类(PFOA)的贡献率较大,分别为45.03%和31.86%。男性人群血清中PFOS、PFOA、全氟己基磺酸(PFHxS)、全氟壬酸(PFNA)等主要化合物的浓度高于女性,其β值(95%可信区间)分别为0.708(0.313,1.104)、0.518(0.069,0.967)、0.724(0.388,1.059)和0.684(0.399,0.968)。同时,发现血清中PFOS、PFHxS、PFNA浓度和年龄呈正相关,其β值(95%可信区间)分别为0.062(0.042,0.081)、0.035(0.019,0.052)和0.030(0.016,0.045)。结论 性别和年龄对血清中PFASs浓度有影响,在进行人体PFASs暴露评估中应考虑这些因素。     

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.     

中医药膳与特膳食品产业融合发展思辨

中医药膳与特膳食品一样,均能为特定人群系统定量地提供特殊或针对性的生理物质与营养成分,从而改善特定人群的营养基础代谢,减少不必要的代谢负担。文章提出在健康中国战略背景下加强特膳食品与中医药膳产业融合发展的必要性及发展的瓶颈,并指出两者融合发展的有效路径。     

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.