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.     

A hybrid knowledge and ensemble classification approach for prediction of venous thromboembolism

Clinical narratives such as progress summaries, lab reports, surgical reports, and other narrative texts contain key biomarkers about a patient's health. Evidence-based preventive medicine needs accurate semantic and sentiment analysis to extract and classify medical features as the input to appropriate machine learning classifiers. However, the traditional approach of using single classifiers is limited by the need for dimensionality reduction techniques, statistical feature correlation, a faster learning rate, and the lack of consideration of the semantic relations among features. Hence, extracting semantic and sentiment-based features from clinical text and combining multiple classifiers to create an ensemble intelligent system overcomes many limitations and provides a more robust prediction outcome. The selection of an appropriate approach and its interparameter dependency becomes key for the success of the ensemble method. This paper proposes a hybrid knowledge and ensemble learning framework for prediction of venous thromboembolism (VTE) diagnosis consisting of the following components: a VTE ontology, semantic extraction and sentiment assessment of risk factor framework, and an ensemble classifier. Therefore, a component-based analysis approach was adopted for evaluation using a data set of 250 clinical narratives where knowledge and ensemble achieved the following results with and without semantic extraction and sentiment assessment of risk factor, respectively: a precision of 81.8% and 62.9%, a recall of 81.8% and 57.6%, an F measure of 81.8% and 53.8%, and a receiving operating characteristic of 80.1% and 58.5% in identifying cases of VTE.     

中医学视角下城市物质空间的生命要素探析

通过借鉴中医学整体观和生命观的相关理论,从认识城市有机体的生命属性入手,发现并提炼能够产生和传递城市运营所需各种能量的生命要素:廊道和功能体。阐释了其多层级、多性质和多形态的特点,提出了功能体有动力、廊道成系统、敏感点有活力的疏通策略,旨在促进城市各种能量的有机循环,从而维护城市的健康与安全,提高城市生活的效率与质量。     

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.     

基于微博用户兴趣话题的相似用户挖掘

相似用户挖掘是提高社交网络服务质量的重要途径，在面向大数据的社交网络时代，准确的相似用户挖掘对于用户和互联网企业等都有重要的意义，而根据用户自己的兴趣话题挖掘的相似用户更符合相似用户的要求。提出了一种基于用户兴趣话题进行相似用户挖掘的方法。该方法首先使用TextRank话题提取方法对用户进行兴趣话题提取，再对用户发表内容进行训练，计算出所有词之间的相似度。提出CP（Corresponding Position similarity）、CPW（Corresponding Position Weighted similarity）、AP（All Position similarity）、APW（All Position Weighted similarity）四种用户兴趣话题词相似度计算方法，通过用户和相似用户间关注、粉丝重合率验证相似用户挖掘效果，APW similarity的相似用户的关注/粉丝重合百分比为1.687%，优于提出的其他三种算法，分别提高了26.3%、2.8%、12.4%，并且比传统的文本相似度方法Jaccard相似度、编辑距离算法、余弦相似度分别提高了20.4%、21.2%、45.0%。因此APW方法可以更加有效地挖掘出用户的相似用户。     

基于查询的新闻多文档自动摘要技术研究

针对新闻文本领域,该文提出一种基于查询的自动文本摘要技术,更加有针对性地满足用户信息需求。根据句子的TF-IDF、与查询句的相似度等要素,计算句子权重,并根据句子指示的时间给定不同的时序权重系数,使得最近发生的新闻内容具有更高的权重,最后使用最大边界相关的方法选择摘要句。通过与基于TF-IDF、Text-Rank、LDA等六种方法的对比,该摘要方法ROUGE评测指标上优于其他方法。从结合评测结果及摘要示例可以看出,该文提出的方法可以有效地从新闻文档集中摘取核心信息,满足用户查询内容的信息需求。     

M-estimator based Chinese Remainder Theorem with few remainders using a Kroenecker product based mapping vector

The Chinese Remainder Theorem (CRT) explains how to estimate an integer-valued number from the knowledge of the remainders obtained by dividing such unknown integer by co-prime integers. As an algebraic theorem, CRT is the basis for several techniques concerning data processing. For instance, considering a single-tone signal whose frequency value is above the sampling rate, the respective peak in the DFT informs the impinging frequency value modulo the sampling rate. CRT is nevertheless sensitive to errors in the remainders, and many efforts have been developed in order to improve its robustness. In this paper, we propose a technique to estimate real-valued numbers by means of CRT, employing for this goal a Kroenecker based M-Estimation (ME), specially suitable for CRT systems with low number of remainders. Since ME schemes are in general computationally expensive, we propose a mapping vector obtained via Kroenecker products which considerably reduces the computational complexity. Furthermore, our proposed technique enhances the probability of estimating an unknown number accurately even when the errors in the remainders surpass 1/4 of the greatest common divisor of all moduli. We also provide a version of the mapping vectors based on tensorial n-mode products, delivering in the end the same information of the original method. Our approach outperforms the state-of-the-art CRT methods not only in terms of percentage of successful estimations but also in terms of smaller average error.     

ProVoc: An app to train vocabulary depth in order to foster children's reading comprehension

Many studies have demonstrated the crucial role of vocabulary in predicting reading performance in general. More recent work has indicated that one particular facet of vocabulary (its depth) is more closely related to language comprehension, especially inferential comprehension. On this basis, we developed a training application to specifically improve vocabulary depth. The objective of this study was to test the effectiveness of a mobile application designed to improve vocabulary depth. The effectiveness of this training was examined on 3rd and 4th grade children's vocabulary (breadth and depth), decoding and comprehension performances. A randomized waiting-list control paradigm was used in which an experimental group first received the intervention during the first 4 weeks (between pretest and post-test1), thereafter, a waiting control group received the training for the next 4 weeks (between postest1 and posttest2). Results showed that the developed application led to significant improvements in terms of vocabulary depth performance, as well as a significant transfer effect to reading comprehension. However, we did not observe such a beneficial effect on either vocabulary breadth or written word identification. These results are discussed in terms of the links between vocabulary depth and comprehension, and the opportunities the app presents for remedying language comprehension deficits in children.     

Precipitating spinel into precursor glass and its assistance in crystallization

The crystallization phenomena of spinel in CaO-MgO-Al₂O₃-SiO₂-Fe₂O₃ glass have received much attention due to the particular role in preparation of glass-ceramic materials, which represent an effective option to manage hazardous waste. In this study, both preliminary spinel and secondary spinel were precipitated in the precursor glass. The formation of these spinel was meticulously assessed by a combination of X-ray diffractometry and scanning electron microscopy. The structure of the microenvironment in the precursor glass was characterized by Raman spectrums. These advanced techniques highlight the potential for one-step crystallization of the glass. The investigation, which focused on one-step crystallization, demonstrated the growth of pyroxene on spinel accompanying a migration of chromium. The results also show the microstructure of the obtained glass-ceramic was very dependent on the heat-treat temperature. This study not only unambiguously reveals the precipitation mechanisms of spinel but also provides more documentation for one-step crystallization in the glass-ceramics field.     

基于门控联合池化自编码器的通用性文本表征

为了学习文本的语义表征,以往的研究者主要依赖于复杂的循环神经网络(recurrent neural networks, RNNs)和监督式学习方法。该文提出了一种门控联合池化自编码器(gated mean-max AAE)用于学习中英文的文本语义表征。该文的自编码器完全通过多头自注意力机制(multi-head self-attention mechanism)来构建编码器和解码器网络。在编码阶段,提出了均值—最大化(mean-max)联合表征策略,即同时运用平均池化(mean pooling)和最大池化(max pooling)操作来捕获输入文本中多样性的语义信息。为促使联合池化表征可以全面地指导重构过程,解码器采用门控操作进行动态关注。通过在大规模中英文未标注语料上训练模型,获得了高质量的句子编码器。在重构文本段落的实验中,该文模型在实验效果和计算效率上均超越了传统的RNNs模型。将公开训练好的文本编码器,使其可以方便地运用于后续的研究。