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"Chen, Yangran"
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Novel SPEG variant cause centronuclear myopathy in China
by
Tang, Hui
,
Ma, Wei
,
Jiang, Runze
in
Abortion
,
Arthrogryposis
,
Asian Continental Ancestry Group - genetics
2020
Background Centronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Centronuclear myopathy is a kind of disease difficult to diagnose due to its genetic diversity. Since the discovery of the SPEG gene and disease‐causing variants, only a few additional patients have been reported. Methods A radiograph test, ultrasonic test, and biochemical tests were applied to clinical diagnosis of CNM. We performed trio medical exome sequencing of the family and conservation analysis to identify variants. Results We report a pair of severe CNM twins with the same novel homozygous SPEG variant c. 8710A>G (p.Thr2904Ala) identified by clinical trio medical exome sequencing of the family and conservation analysis. The twins showed clinical symptoms of facial weakness, hypotonia, arthrogryposis, strephenopodia, patent ductus arteriosus, and pulmonary arterial hypertension. Conclusions Our report expands the clinical and molecular repertoire of CNM and enriches the variant spectrum of the SPEG gene in the Chinese population and helps us further understand the pathogenesis of CNM.
Journal Article
A Hybrid Model for Vessel Traffic Flow Prediction Based on Wavelet and Prophet
2021
Accurate vessel traffic flow prediction is significant for maritime traffic guidance and control. According to the characteristics of vessel traffic flow data, a new hybrid model, named DWT–Prophet, is proposed based on the discrete wavelet decomposition and Prophet framework for the prediction of vessel traffic flow. First, vessel traffic flow was decomposed into a low-frequency component and several high-frequency components by wavelet decomposition. Second, Prophet was trained to predict the components, respectively. Finally, the prediction results of the components were reconstructed to complete the prediction. The experimental results demonstrate that the hybrid DWT–Prophet outperformed the single Prophet, long short-term memory, random forest, and support vector regression (SVR). Moreover, the practicability of the new forecasting method was improved effectively.
Journal Article