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.     

Classification of the cardiotocogram data for anticipation of fetal risks using machine learning techniques

The aim of the research is evaluating the classification performances of eight different machine-learning methods on the antepartum cardiotocography (CTG) data. The classification is necessary to predict newborn health, especially for the critical cases. Cardiotocography is used for assisting the obstetricians’ to obtain detailed information during the pregnancy as a technique of measuring fetal well-being, essentially in pregnant women having potential complications. The obstetricians describe CTG shortly as a continuous electronic record of the baby's heart rate took from the mother's abdomen. The acquired information is necessary to visualize unhealthiness of the embryo and gives an opportunity for early intervention prior to happening a permanent impairment to the embryo. The aim of the machine learning methods is by using attributes of data obtained from the uterine contraction (UC) and fetal heart rate (FHR) signals to classify as pathological or normal. The dataset contains 1831 instances with 21 attributes, examined by applying the methods. In the paper, the highest accuracy displayed as 99.2%.     

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。     

A new decomposition based evolutionary algorithm with uniform designs for many-objective optimization

For many-objective optimization problems, how to get a set of solutions with good convergence and diversity is a difficult and challenging work. In this paper, a new decomposition based evolutionary algorithm with uniform designs is proposed to achieve the goal. The proposed algorithm adopts the uniform design method to set the weight vectors which are uniformly distributed over the design space, and the size of the weight vectors neither increases nonlinearly with the number of objectives nor considers a formulaic setting. A crossover operator based on the uniform design method is constructed to enhance the search capacity of the proposed algorithm. Moreover, in order to improve the convergence performance of the algorithm, a sub-population strategy is used to optimize each sub-problem. Comparing with some efficient state-of-the-art algorithms, e.g., NSGAII-CE, MOEA/D and HypE, on six benchmark functions, the proposed algorithm is able to find a set of solutions with better diversity and convergence.     

Improving the prediction of petroleum reservoir characterization with a stacked generalization ensemble model of support vector machines

The ensemble learning paradigm has proved to be relevant to solving most challenging industrial problems. Despite its successful application especially in the Bioinformatics, the petroleum industry has not benefited enough from the promises of this machine learning technology. The petroleum industry, with its persistent quest for high-performance predictive models, is in great need of this new learning methodology. A marginal improvement in the prediction indices of petroleum reservoir properties could have huge positive impact on the success of exploration, drilling and the overall reservoir management portfolio. Support vector machines (SVM) is one of the promising machine learning tools that have performed excellently well in most prediction problems. However, its performance is a function of the prudent choice of its tuning parameters most especially the regularization parameter, C. Reports have shown that this parameter has significant impact on the performance of SVM. Understandably, no specific value has been recommended for it. This paper proposes a stacked generalization ensemble model of SVM that incorporates different expert opinions on the optimal values of this parameter in the prediction of porosity and permeability of petroleum reservoirs using datasets from diverse geological formations. The performance of the proposed SVM ensemble was compared to that of conventional SVM technique, another SVM implemented with the bagging method, and Random Forest technique. The results showed that the proposed ensemble model, in most cases, outperformed the others with the highest correlation coefficient, and the lowest mean and absolute errors. The study indicated that there is a great potential for ensemble learning in petroleum reservoir characterization to improve the accuracy of reservoir properties predictions for more successful explorations and increased production of petroleum resources. The results also confirmed that ensemble models perform better than the conventional SVM implementation.     

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.     

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.     

Benchmark value determination of energy efficiency indexes for coal-fired power units based on data mining methods

The operational optimisation of coal-fired power units is important for saving energy and reducing losses in the electric power industry. One of the key issues is how to determine the benchmark values of the energy efficiency indexes of the units. Therefore, a new framework for determining these benchmark values is proposed, based on data mining methods. First, the energy efficiency key performance indicators (KPIs) associated with the net coal consumption rate (NCCR) were selected based on the domain knowledge. Second, the decision-making samples with minimal NCCR were acquired with the fuzzy C-means (FCM) clustering algorithm, and the corresponding clustering centres were employed as the benchmark values. Finally, based on the support vector regression (SVR) algorithm, the target values of the NCCR were obtained with the KPIs as input, and the energy saving potential was evaluated by comparing the target values with the historical values of the NCCR. An actual on-duty 1000 MW unit was taken as study unit, and the results show that the energy saving potential is remarkable when the operators adjust the KPIs based on the calculated benchmark values.     

Using electroencephalogram to continuously discriminate feelings of personal thermal comfort between uncomfortably hot and comfortable environments

Thermal comfort is an important factor for the design of buildings. Although it has been well recognized that many physiological parameters are linked to the state of thermal comfort or discomfort of humans, how to use physiological signal to judge the state of thermal comfort has not been well studied. In this paper, the feasibility of continuously determining feelings of personal thermal comfort was discussed by using electroencephalogram (EEG) signals in private space. In the study, 22 subjects were exposed to thermally comfortable and uncomfortably hot environments, and their EEG signals were recorded. Spectral power features of the EEG signals were extracted, and an ensemble learning method using linear discriminant analysis or support vector machine as a sub-classifier was used to build the discriminant model. The results show that an average discriminate accuracy of 87.9% can be obtained within a detection window of 60 seconds. This study indicates that it is feasible to distinguish whether a person feels comfortable or too hot in their private space by multi-channel EEG signals without interruption and suggests possibility for further applications in neuroergonomics.     

Stereo matching cost computation based on nonsubsampled contourlet transform

A new matching cost computation method based on nonsubsampled contourlet transform (NSCT) for stereo image matching is proposed in this paper. Firstly, stereo image is decomposed into high frequency sub-band images at different scales and along different directions by NSCT. Secondly, by utilizing coefficients in high frequency domain and grayscales in RGB color space, the computation model of weighted matching cost between two pixels is designed based on the gestalt laws. Lastly, two types of experiments are carried out with standard stereopairs in the Middlebury benchmark. One of the experiments is to confirm optimum values of NSCT scale and direction parameters, and the other is to compare proposed matching cost with nine known matching costs. Experimental results show that the optimum values of scale and direction parameters are respectively 2 and 3, and the matching accuracy of the proposed matching cost is twice higher than that of traditional NCC cost.