55 research outputs found

    Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation

    Get PDF
    Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder characterized by a defect in the liver-specific peroxisomal enzyme alanine-glyoxylate and serine-pyruvate aminotransferase (AGT). This disorder results in hyperoxaluria, recurrent urolithiasis, and nephrocalcinosis. Three forms of PH1 have been reported. Data on the infantile form of PH1 are currently limited in literature. Despite the fact that China is the most populated country in the world, only a few AGXT mutations have been reported in several Chinese PH1 patients. In the present study, we investigated a Chinese family in which two siblings are affected by the infantile form of PH1. Sanger sequencing was carried out on the proband, but the results were misleading. Two novel missense mutations (c.517T > C/p.Cys173Arg and c.667A > C/p.Ser223Arg) of the AGXT gene were successfully detected through whole-exome sequencing. These two mutations occurred in the highly conserved residues of the AGT. Four software programs predicted both mutations as the cause of the disease. A postmortem examination was performed and revealed the occurrence of global nephrocalcinosis on both kidneys. The crystals were collected and analyzed as calcium oxalate monohydrate. This study extends the knowledge on the clinical phenotype–genotype correlation of the AGXT mutation. That is, (i) two novel missense mutations were identified for the infantile form of PH1 and (ii) the same AGXT genotype caused the same infantile form of PH1 within the family

    Measuring the Inclusive Growth of China’s Coastal Regions

    No full text
    Inclusive growth captures the need to alleviate the problems of global income disparity and poverty, particularly in Asia. The study’s goal is to construct an indicator system that measures the inclusive growth of 11 coastal provinces and cities in China from five aspects, namely, survival, capacity, development, freedom, and opportunity, examining the area from 2000 to 2015. The system is based on Bossel’s basic orientor indicator framework. Dynamic changes in overall levels in the five fields are investigated and spatial differences calculated using the Gini coefficient. Among the provinces, Guangxi shows the strongest survival conditions, giving it an advantage over other regions. Shanghai has the highest level of capacity and freedom. Guangdong has the strongest development momentum, but this appears to be weakening. Finally, Shandong shows many more social opportunities. The study suggests that inclusive growth in the area has increased as a result of the area’s rapid development, but the growth rates remain low. The level of inclusive growth shows a large gap across the regions. Gini coefficient differences show that the eastern coastal areas have strong development trends, whereas the northern and southern coastal areas show weaker ones. We also offer suggestions on how to promote inclusive growth in these regions

    Prediction of lymph node status in patients with early-stage cervical cancer based on radiomic features of magnetic resonance imaging (MRI) images

    No full text
    Abstract Background Lymph node metastasis is an important factor affecting the treatment and prognosis of patients with cervical cancer. However, the comparison of different algorithms and features to predict lymph node metastasis is not well understood. This study aimed to construct a non-invasive model for predicting lymph node metastasis in patients with cervical cancer based on clinical features combined with the radiomic features of magnetic resonance imaging (MRI) images. Methods A total of 180 cervical cancer patients were divided into the training set (n = 126) and testing set (n = 54). In this cross-sectional study, radiomic features of MRI images and clinical features of patients were collected. The least absolute shrinkage and selection operator (LASSO) regression was used to filter the features. Seven machine learning methods, including eXtreme Gradient Boosting (XGBoost), Logistic Regression, Multinomial Naive Bayes (MNB), Support Vector Machine (SVM), Decision Tree, Random Forest, and Gradient Boosting Decision Tree (GBDT) are used to build the models. Receiver operating characteristics (ROC) curve and area under the curve (AUC), accuracy, sensitivity, and specificity were calculated to assess the performance of the models. Results Of these 180 patients, 49 (27.22%) patients had lymph node metastases. Five of the 122 radiomic features and 3 clinical features were used to build predictive models. Compared with other models, the MNB model was the most robust, with its AUC, specificity, and accuracy on the testing set of 0.745 (95%CI: 0.740–0.750), 0.900 (95%CI: 0.807–0.993), and 0.778 (95%CI: 0.667–0.889), respectively. Furthermore, the AUCs of the MNB models with clinical features only, radiomic features only, and combined features were 0.698 (95%CI: 0.692–0.704), 0.632 (95%CI: 0.627–0.637), and 0.745 (95%CI: 0.740–0.750), respectively. Conclusion The MNB model, which combines the radiomic features of MRI images with the clinical features of the patient, can be used as a non-invasive tool for the preoperative assessment of lymph node metastasis

    Aqueous tape casting technique for the fabrication of Sc0.1Ce0·01Zr0·89O2+Δ ceramic for electrolyte-supported solid oxide fuel cell

    No full text
    Despite some the advantages of the solid oxide fuel cell (SOFC), one of the greatest challenges that hinders the SOFC from rising to dominance in the field of power generation is its high fabrication cost. As a solution, the tape casting process has been widely used to fabricate low-cost, uniform and thin SOFC electrolytes. Compared to organic-based tape casting, aqueous-based tape casting is a much more environmentally friendly technique. In this work, a large-area electrolyte-supported solid oxide fuel cell was fabricated by this technique together with sintering. A 10 cm × 10 cm and 0.17 mm thick supported Sc0.1Ce0·01Zr0·89O2+△ (SSZ) electrolyte was obtained with good flatness, low ohmic resistance and high open-circuit voltage.The authors would like to thank the Jiangsu Natural Science Fund Projects (BK20170845), and Singapore Foundation for the funding support given to Singapore-Peking University Research Centre (SPURc) on research in Sustainable Low Carbon Technologies; the authors would also like to thank the Chongqing Research Project (cstc2017jcyjAX0276)

    aparataxonomicrevisionofspheroolithideggsfromtheuppercretaceousquantouformationinchangtuliaoning

    No full text
    We re-described the dinosaur eggs from the Upper Cretaceous Quantou Formation in Changtu, Liaoning Province. Based on the macrostructure of eggs and the microstructure of eggshells: spheroid or near-spheroid eggs, thick eggshell, bamboo-leaves-like or lanceolate wedges in cone, clear inter-wedge spaces, columnar layer composed of more than 4 superimposed eggshell units, these eggs are assigned to Spheroolithus spheroides (Young, 1954) Zhao, 1979, and Spheroolithus megadermus (Young, 1959) Zhao, 1979, respectively. With the comparison of dinosaur egg assemblages from Changtu in Liaoning Province and Laiyang in Shandong Province, the Quantou Formation should be corresponding to the early-middle Late Cretaceous

    Systematic study of short circuit activation on the performance of PEM fuel cell

    No full text
    During the operation of proton exchange membrane fuel cell (PEMFC), it always suffers from reversible performance loss caused by the oxidation of platinum catalyst on its electrode, which reduces the electrochemical active surface area. Short circuit method has been found to improve the performance of fuel cells by stripping of oxides and other adsorbed species from platinum, which needs systematical understanding the effective parameters of short circuit method on fuel cell performance. In this paper, the effects of different short circuit activation parameters (duration, interval, cycles, cut-off voltage, operating current) are carefully studied and analyzed during short circuit operations. In addition, the mechanism revealing how relevant parameters influence short circuit activations is deeply analyzed. The results show that five groups of activation parameters have obvious influence on the activation of fuel cell, indicating that the short-circuit activation effect can be optimized. Among these parameters, the short-circuit duration parameter have the greatest impact on activation, because the platinum hydroxides and oxides is gradually removed during short-circuit duration and results in a larger effective surface area of the platinum catalyst for the electrochemical reaction. However, the smallest impact is short-circuit interval. Another finding is that the five activation parameters are not independent, so the optimal activation parameter value needs to be analyzed in combination with the operating conditions. Finally, according to the activation principle, selection of appropriate short circuit activation parameters for application are proposed to further improve performance and fuel utilization by considering the safety of the stack.This work was supported in part by the National Key Research and Development Program under Grant 2018YFB0105402 and Grant 2018YFB0105703, the Technological Innovation and Application Demonstration in Chongqing (Major Themes of Industry: cstc2018jszx-cyztzxX0005, cstc2019jscx-zdztzxX0033 and cstc2019jscx-fxydX0020) and by the Fundamental Research Funds for the Central Universities under Grant 2019CDXYQC0003, 244005202014, 2019, and Grant 2018CDXYTW0031

    A comprehensive review of electrochemical hybrid power supply systems and intelligent energy managements for unmanned aerial vehicles in public services

    No full text
    The electric unmanned aerial vehicles (UAVs) are rapidly growing due to their abilities to perform some difficult or dangerous tasks as well as many public services including real-time monitoring, wireless coverage, search and rescue, wildlife surveys, and precision agriculture. However, the electrochemical power supply system of UAV is a critical issue in terms of its energy/power densities and lifetime for service endurance. In this paper, the current power supply systems used in UAVs are comprehensively reviewed and analyzed on the existing power configurations and the energy management systems. It is identified that a single type of electrochemical power source is not enough to support a UAV to achieve a long-haul flight; hence, a hybrid power system architecture is necessary. To make use of the advantages of each type of power source to increase the endurance and achieve good performance of the UAVs, the hybrid systems containing two or three types of power sources (fuel cell, battery, solar cell, and supercapacitor,) have to be developed. In this regard, the selection of an appropriate hybrid power structure with the optimized energy management system is critical for the efficient operation of a UAV. It is found that the data-driven models with artificial intelligence (AI) are promising in intelligent energy management. This paper can provide insights and guidelines for future research and development into the design and fabrication of the advanced UAV power systems.Published versionThis work is supported in part by the founding of state key laboratory of industrial control technology, Zhejiang University (ICT2021B19), the Technological Innovation and Application Demonstration in Chongqing (Major Themes of Industry: cstc2019jscx-zdztzxX0033, cstc2019jscx-fxyd0158) and the National Natural Science Foundation of China (NO. 22005026, 21908142)

    Study of degradation of fuel cell stack based on the collected high-dimensional data and clustering algorithms calculations

    No full text
    Accurate perception of the performance degradation of fuel cell is very important to detect its health state. However, inconsistent operating conditions of fuel cell vehicles in the test result in errors in the data. In order to obtain a more credible degradation rate, this study proposes a novel method to classify the experimental data collected under different working conditions into similar operating conditions by using dimensionality reduction and clustering algorithms. Firstly, the experimental data collected from fuel cell vehicles belong to high-dimensional data. Then projecting high-dimensional data into three-dimensional feature vector space via principal component analysis (PCA). The dimension-reduced three-dimensional feature vectors are input into the clustering algorithm, such as K-means and density-based noise application spatial clustering(DBSCAN). According to the clustering results, the fuel cell voltage data with similar operating conditions can be classified. Finally, the selected voltage data can be used to precisely represent the true performance degradation of an on-board fuel cell stack. The results show that the voltage using the K-means algorithm declines the fastest, followed by the DBSCAN algorithm, finally the original data, which indicates that the performance of the fuel cell actually declines faste. Early intervention can prolong its life to the greatest extent

    A New Troodontid Dinosaur from the Lower Cretaceous Yixian Formation of Liaoning Province, China

    No full text
    A new troodontid dinosaur, Daliansaurus liaoningensis gen. et sp. nov., is erected based on a nearly complete specimen from the Lower Cretaceous Yixian Formation of Beipiao City, Liaoning Province, China. This well preserved skeleton provides important new details of the anatomy for Liaoning troodontids, and gives new insight into their phylogenetic relationships and evolution. Daliansaurus is distinguished from other troodontids by an enlarged ungual on pedal digit IV, which is approximately the same size as the sickle-shaped second ungual, and is differentiated from other Liaoning troodontids by a number of characters of the skull, manus, pelvis, and hindlimb. A phylogenetic analysis recovers Daliansaurus within a subclade of Liaoning troodontids that also includes Sinovenator, Sinusonasus, and MeL We erect a name for this group--Sinovenatorinae--and argue that it reflects a localized radiation of small-bodied troodontids in the Early Cretaceous of eastern Asia, similar to previously recognized radiations of Liaoning dromaeosaurids and avialans. As more Liaoning theropods are discovered, it is becoming apparent that small, feathered paravians were particularly diverse during the Early Cretaceous, and future work is needed to clarify how this diversity arose, which species coexisted, and how these numerous species partitioned niches
    corecore