Explanipedia

Case Report: Co-occurring de novo SHANK3 and SRCAP variants in a patient with autoimmune encephalitis and exhibiting Phelan-McDermid syndrome features Open

Jie Zhang, Yaqing Huang, Xingzhi Chang, Liya Zhang · 2025

Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by a deletion or variant of SHANK3 . Patients with PMS typically present with global developmental delay, delayed or absent speech, intellectual disability, hypoto…

Confirmatory study on the retention rate of ketogenic diet therapy and related factors in children with drug‐resistant epilepsy: A single‐center cohort study Open

Jie Zhang, Qiang Gu, Yuan Wu, Han Xie, Cuijie Wei , et al. · 2025

Objective To confirm the retention rate of ketogenic diet therapy (KDT) in children with drug‐resistant epilepsy and identify its related factors through a cohort analysis. Methods This was a single‐center cohort study. Baseline data were …

Research on the Application of Data-Driven Smart Teaching in Programming Courses Open

Yao Wang, Long Xu, Liang Gao, Xingzhi Chang · 2025

The insufficient data collection and low teacher-student interaction efficiency in programming courses are common problems encountered. In order to solve the problems, this study presents a data-driven smart teaching model (DD_STM) with a …

Modeling and analysis of distribution network with photovoltaic cells based on Markov global sensitivity Open

Tingting Hu, Bai Zhang, Pengyuan Liu, Xingzhi Chang · 2024

When multiple distributed PV (photovoltaic) systems are integrated into multiple nodes of the distribution network, this will lead to the significant influence of the grid-tied node voltage of the power distribution network resulting from …

Design and implementation of a monitoring platform based on beidou high precision positioning technology Open

Xiusheng Ren, Minghao Zang, Qinyong Wang, Xingzhi Chang, Qiang Liang · 2024

Traditional BDS positioning technology has limitations in accuracy, robustness, and availability in certain real-time monitoring applications. Therefore, this article designs and implements a monitoring platform based on Beidou high-precis…

Design of a 3D space early warning system for high precision positioning technology of Beidou and analysis of differential positioning accuracy Open

Xingzhi Chang, Weizheng Pei, Limin Zhang, Yanfei Zhang, Qingshan Yuan · 2024

The Beidou satellite navigation system has achieved certain results in positioning accuracy, but due to factors such as system errors, its accuracy still does not fully meet the requirements of high-precision measurement. Therefore, this s…

Design of high-precision displacement safety monitoring and three-dimensional spatial alarm system for Beidou based on intelligent algorithms Open

Yuqing Cao, Weiwei Lian, Jinbiao Yang, Chunxi Zhang, Xingzhi Chang · 2024

The purpose of this study is to design a system that can monitor the displacement changes of engineering structures in real time and provide timely alarms when abnormal displacement is detected, in order to provide efficient safety monitor…

A novel binary genetic differential evolution optimization algorithm for wind layout problems Open

Yanting Liu, Zhe Xu, Yongjia Yu, Xingzhi Chang · 2024

This paper addresses the increasingly critical issue of environmental optimization in the context of rapid economic development, with a focus on wind farm layout optimization. As the demand for sustainable resource management, climate chan…

A Novel Power Quality Comprehensive Estimation Model Based on Multi-Factor Variance Analysis for Distribution Network with DG Open

Haili Ding, Pengyuan Liu, Xingzhi Chang, Bai Zhang · 2023

The power quality estimation for distribution network connected DG (distributed generation) is important in the power system. The significance testing for power quality indicator is less used in traditional power quality evaluation. Howeve…

Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder Open

Cuijie Wei, Yidan Liu, Yanling Yang, Yuan Wu, Jieyu Liu , et al. · 2023

The TRNT1 gene encodes tRNA nucleotidyltransferase 1, which catalyzes the addition of cytosine-cytosine-adenosine (CCA) to the ends of cytoplasmic and mitochondrial tRNAs. The most common clinical phenotype associated with TRNT1 is autosom…

Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients Open

Xiuli Huang, Dandan Tan, Zaiqiang Zhang, Ge Lin, Jieyu Liu , et al. · 2023

Background LAMA2- related limb girdle muscular dystrophy (LGMD R23) is rare. The detailed clinical phenotypes and genetic information associated with LGMD R23 are unknown. Methods We conducted a retrospective cross-sectional and longitudin…

Efficacy of vigabatrin in the treatment of infantile epileptic spasms syndrome: A systematic review and meta‐analysis Open

Zhao Xu, Pan Gong, Xianru Jiao, Yue Niu, Ye Wu , et al. · 2023

This systematic review and meta‐analysis aimed to evaluate the efficacy of vigabatrin (VGB) in treating infantile epileptic spasms syndrome (IESS). Databases of PubMed, Embase, Web of Science, MEDLINE, and Cochrane Library were systematica…

Correlation of Phenotype–Genotype and Protein Structure in RYR1-Related Myopathy Open

Xingzhi Chang, Risheng Wei, Cuijie Wei, Jieyu Liu, Lun Qin , et al. · 2022

Introduction Next generation sequencing results in an explosive identification of rare variants of RYR1 , making the correlation between phenotype and genotype complicated. We analyzed the data of 33 patients with RYR1 -related myopathy, a…

Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients Open

Yanbin Fan, Zhifei Xu, Xing Li, Feng Gao, Enyu Guo , et al. · 2022

Congenital muscular dystrophy with early rigid spine, also known as the rigid spine with muscular dystrophy type 1 (RSMD1), is caused by SEPN1 mutation. We investigated the clinical manifestations, pathological features, and genetic charac…

Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre Open

Yu Zhang, Hui Yan, Jieyu Liu, Huifang Yan, Yinan Ma , et al. · 2022

[Long-term rituximab treatment of refractory idiopathic inflammatory myopathy: A report of 3 cases]. Open

Wenxia Yi, Wei Cui, Xinhua Bao, Hui Xiong, Xingzhi Chang · 2021

Idiopathic inflammatory myopathies are a group of rare but serious diseases. The treatment of refractory idiopathic inflammatory myopathy is always challenging, especially in children. Three cases of refractory idiopathic inflammatory myop…

Phenotype and Genotype Study of Chinese POMT2-Related α-Dystroglycanopathy Open

Xiaoyu Chen, Danyu Song, Li Jiang, Dandan Tan, Yidan Liu , et al. · 2021

Objective Alpha-dystroglycanopathy (α-DGP) is a subtype of muscular dystrophy caused by defects in the posttranslational glycosylation of α-dystroglycan (α-DG). Our study aimed to summarize the clinical and genetic features of POMT2 -relat…

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort Open

Dandan Tan, Ge Lin, Yanbin Fan, Xingzhi Chang, Shuang Wang , et al. · 2021

Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice‐site variant in TTN : A case report Open

Sheng Huang, Yinan Ma, Yu Zhang, Hui Xiong, Xingzhi Chang · 2021

Next‐generation sequencing has resulted in an explosion of rare de novo TTN variants. The clinical interpretation of these de novo variants in patients with recessive titinopathy is very difficult. Here, we provided a useful way to identif…

Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review Open

Gang Zhang, Min Xu, Tingting Huang, Wenxin Lin, Jinglin Chen , et al. · 2021

Comorbidity of chronic fatigue syndrome, postural tachycardia syndrome, and narcolepsy with 5,10-methylenetetrahydrofolate reductase (MTHFR) mutation in an adolescent: a case report Open

Ying Liao, Jianguang Qi, Hui Yan, Qingyou Zhang, Taoyun Ji , et al. · 2021

A 16-year-old male adolescent was hospitalized complaining of intermittent dizziness, drowsiness, and fatigue for approximately 2 years. The patient had an episode of fever and pharyngalgia lasting nearly 2 weeks and had undergone appendec…

Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients Open

Xiaoyu Chen, Danyu Song, Yanbin Fan, Dandan Tan, Xingzhi Chang , et al. · 2020

Alpha-dystroglycanopathy (α-DGP) is a subtype of congenital muscular dystrophies (CMDs) with autosomal recessive inheritance. Its main pathogenesis is the defect of post-translational O-glycosylation in α-dystroglycan (α-DG). α-DGP present…

Author response for "Genetic Variations and Clinical Spectrum of Dystroglycanopathy in a Large Cohort of Chinese Patients" Open

Danyu Song, Yi Dai, Xiaoyu Chen, Xiaona Fu, Xingzhi Chang , et al. · 2020

Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients Open

Yanbin Fan, Dandan Tan, Danyu Song, Xu Zhang, Xingzhi Chang , et al. · 2020

Background LMNA -related muscular dystrophy is caused by mutations in LMNA gene. We aimed to identify genetic variations and clinical features in a large cohort of Chinese patients with LMNA mutations in an attempt to establish genotype-ph…

Author response for "A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients" Open

Danyu Song, Xiaona Fu, Ge Lin, Xingzhi Chang, Cuijie Wei , et al. · 2019

Author response for "A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients" Open

Danyu Song, Xiaona Fu, Ge Lin, Xingzhi Chang, Cuijie Wei , et al. · 2019

Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy Open

Li Chen, Huifang Yan, Binbin Cao, Ye Wu, Qiang Gu , et al. · 2018

Objective. Metachromatic leukodystrophy (MLD) is an inherited disease caused by a deficiency of the enzyme arylsulfatase A (ARSA) that leads to severe physiologic and developmental problems. Our study is aimed at elucidating the clinical a…

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients Open

Haoran Ji, Dongxiao Li, Ye Wu, Quanli Zhang, Qiang Gu , et al. · 2018

This is the first report on clinical and genetic features of hypomyelinating disorders with a large sample of patients in Chinese population, identifying 18 novel mutations especially mutations in POLR3A and RARS in Chinese patients, expan…

Phenotype–Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy Open

Dandan Tan, Haipo Yang, Yun Yuan, Carsten G. Bönnemann, Xingzhi Chang , et al. · 2015

This study aimed to analyze the correlation between the phenotype and genotype of Chinese patients with early-onset lamin A (LMNA)-related muscular dystrophy (MD). The clinical and myopathological data of 21 Chinese pediatric patients with…

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