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Drosophila models used to simulate human ATP1A1 gene mutations that cause Charcot-Marie-Tooth type 2 disease and refractory seizures

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Neural Regeneration Research 2025年第1期20卷 265-276页

作者： Yao yuan Lingqi Yu Xudong Zhuang Dongjing wen Jin He Jingmei Hong Jiayu Xie Shengan Ling Xiaoyue du wenfeng Chen Xinrui Wang Institute of Life Sciences College of Biological Science and EngineeringFuzhou UniversityFuzhouFujian ProvinceChina NHC Key Laboratory of Technical Evaluation of Fertility Regulation for Non-human Primate(Fujian Maternity and Child Health Hospital) FuzhouFujian ProvinceChina Medical Research Center Fujian Maternity and Child Health HospitalCollege of Clinical Medicine for Obstetrics&Gynecology and PediatricsFujian Medical UniversityFuzhouFujian ProvinceChina Department of Neurology and Institute of Neurology of The First Affiliated Hospital Institute of Neuroscienceand Fujian Key Laboratory of Molecular NeurologyFujian Medical UniversityFuzhouFujian ProvinceChina

Certain amino acids changes in the human Na^(+)/K^(+)-ATPase pump,ATPase Na^(+)/K^(+)transporting subunit alpha 1(ATP1A1),cause Charcot-Marie-Tooth disease type 2(CMT2)disease and refractory *** develop in vivo models to study the role of Na^(+)/K^(+)-ATPase in these diseases,we modified the Drosophila gene homolog,Atpα,to mimic the human ATP1A1 gene mutations that cause *** located within the helical linker region of human ATP1A1(I592T,A597T,P600T,and D601F)were simultaneously introduced into endogenous Drosophila Atpαby CRISPR/Cas9-mediated genome editing,generating the Atpα^(TTTF)*** addition,the same strategy was used to generate the corresponding single point mutations in flies(Atpα^(I571T),Atpα^(A576T),Atpα^(P579T),and Atpα^(D580F)).Moreover,a deletion mutation(Atpα^(mut))that causes premature termination of translation was generated as a positive *** these alleles,we found two that could be maintained as homozygotes(Atpα^(I571T)and Atpα^(P579T)).Three alleles(Atpα^(A576T),Atpα^(P579)and Atpα^(D580F))can form heterozygotes with the Atpαmut *** found that the Atpαallele carrying these CMT2-associated mutations showed differential phenotypes in *** heterozygous for Atpα^(TTTF)mutations have motor performance defects,a reduced lifespan,seizures,and an abnormal neuronal *** Drosophila models will provide a new platform for studying the function and regulation of the sodium-potassium pump.

关键词： ATP1A1 Atpα bang-sensitive paralysis Charcot-Marie-Tooth disease type 2 CRISPR/Cas9 homology-directed repair Na^(+)/K^(+)-ATPase point mutation seizures sodium pump

Brachiocephalic trunk and left brachiocephalic vein injuries following penetrating right sternoclavicular junction trauma： a case report

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Chinese Journal of Traumatology 2013年第5期16卷 286-287页

作者： KONG Ling-wen TAN yuan-kang du Ding-yuan SU Hong-jie ZHANG Wei-ming ZHAO Xing-ji Department of Cardiothoracic Surgery ChongqingEmergency Medical Center Chongqing Institute of Acci-dent & Emergency Medicine Chongqing 400014 China

A 46-year-old male sustained severe pe- netrating injury by a sharp instrument to his right upper sternoclavicular junction. The wound tract was from su- prasternal notch to mediastinum. Exploratory operation via median sternotomy under general anesthesia found a large mediastinal septum hematoncus, as well as brachiocephalic trunk and left brachiocephalic vein injuries. The perforating vascular wounds were repaired with 5-0 prolene suture. He was recovered uneventfully and discharged 9 days after operation. There was no sequel found during 7 years fol- low-up.

关键词： Brachiocephalic trunk Brachiocephalic veins Thoracic injuries Wounds, penetrating

糖类抗原125水平对慢性心力衰竭患者新发心房颤动的预测价值

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中国循环杂志 2017年第10期32卷 943-947页

作者：王文苑杜荣增江苏大学附属医院心血管内科江苏省镇江市212001

目的:探索血清糖类抗原125(CA-125)水平是否能够预测慢性心力衰竭(心衰)患者心房颤动(房颤)的发生。方法:入选2012-01至2016-01期间共200例既往和目前均无房颤的慢性心衰住院患者,经住院治疗病情稳定后检测其血清CA-125水平,并定期随访... 详细信息

目的:探索血清糖类抗原125(CA-125)水平是否能够预测慢性心力衰竭(心衰)患者心房颤动(房颤)的发生。方法:入选2012-01至2016-01期间共200例既往和目前均无房颤的慢性心衰住院患者,经住院治疗病情稳定后检测其血清CA-125水平,并定期随访,观察房颤的发生情况,评估基线血清CA-125水平与新发房颤之间的关系。结果:8例患者在首次随访期(半年)内死亡,14例失访,故共178例患者完成至少一次随访。这些患者平均随访时间为(20.1±9.9)个月(6~54个月),其中40例(22%)患者出现新发房颤。与保持窦性心律的患者比较,新发房颤患者基线CA-125水平更高[108(44~228)U/ml vs 49(21~118)U/ml,P72.58 U/ml。单因素分析发现,血清CA-125水平>72.58 U/ml、左心房内径增加、右心室扩大、肺动脉收缩压高、左心室射血分数低以及中到重度的二尖瓣反流对新发房颤有预测价值。校正单因素分析中有意义的变量后,多因素Cox回归分析发现,血清CA-125水平>72.58 U/ml(风险比=2.709,95%可信区间:1.308~6.876,P=0.008)和中到重度的二尖瓣反流(风险比=2.301,95%可信区间:1.204~5.334,P=0.01)是新发房颤的独立预测因素。结论:血清CA-125水平与慢性心衰患者新发房颤相关;血清CA-125水平升高的慢性心衰患者更容易发生房颤。

关键词： CA-125抗原心力衰竭心房颤动预测

Cerebral fat embolism following autologous fat injection in facial reconstruction:A case report

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World Journal of Clinical Cases 2025年第2期13卷 50-58页

作者： Xiu-Ying Chen Fa Shen Chang Cheng Yu-Han Wang wen-Chao Cheng De-Zhi yuan wen Huang Department of Neurology Chongqing Emergency Medical CenterChongqing University Central HospitalChongqing 400000China Department of Neurology Xinqiao HospitalThe Army Medical University(Third Military Medical University)Chongqing 400000China

BACKGROUND Autologous fat injection in facial reconstruction is a common cosmetic *** cerebral fat embolism(CFE)as a complication is rare,it carries serious health *** SUMMARY We present a case of a 29-year-old female patient who developed acute CFE following facial fat filling *** the surgery,the patient experienced symptoms including headache,nausea,vomiting,and difficulty breathing,which was followed by neurological symptoms such as slurred speech and left-sided *** physical examination and auxiliary investigations,including blood tests,head and neck computed tomography angiography,and cranial magnetic resonance diffusion-weighted imaging,were performed upon *** clinical diagnosis was acute cerebral embolism following facial fat filling *** included measures to improve cerebral circulation,dehydration for intracranial pressure reduction,nutritional support,and rehabilitation therapy for left limb *** patient showed a significant improvement in symptoms after 2 weeks of *** recovered left limb muscle strength to grade 5,had clear speech,and experienced complete relief of *** Our case highlights the potential occurrence of severe complications in patients undergoing fat injection in facial *** prevent these complications,plastic surgeons should enhance their professional knowledge and skills.

关键词： Cerebral fat embolism Mechanical thrombectomy Thrombolysis Steroid therapy Symptomatic treatment Case report

Design and Analysis of Double One Out of Two with a Hot Standby Safety Redundant Structure

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Chinese Journal of Electronics 2020年第3期29卷 586-594页

作者： wen Jiakun CAO yuan MA Lianchuan du Siqi School of Electronic and Information Engineering Beijing Jiaotong University National Engineering Research Center of Rail Transportation Operation and Control System Beijing Jiaotong University

In the rail transit system, the running foundation of the computer control system is required to be highly reliable, available and safe. A redundant system structure of double one out of two with a hot standby applied to the safety computer platform of the train control system is proposed in this paper. Considering the common cause failure, fault diagnosis rate, repair rate and switching success rate, the Markovian approach is adopted for modeling four safety redundant structures,including two out of three, double one out of two, one out of two with a hot standby and double one out of two with a hot standby. The calculation of the failure rate and PFH values is carried out with MATLAB to evaluate the reliability, safety and influencing factors of each structure. The final conclusion is that double one out of two with a hot standby structure can be best in the aspect of both reliability and safety with appropriate DC and β parameters.

关键词： Markov model Safety redundant structure Reliability Safety Double one out of two with a hot standby

Based on non-targeted metabolomics for differential components screening of Rosae Chinensis Flos and Rosae Rugosae Flos and their quality evaluation

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Traditional Medicine Research 2025年第2期10卷 1-15页

作者： Xu Liang Ni-Hui Zhang Zhi-Lai Zhan Guang-Lu Chang Yan Gao Xia Li wen-yuan Gao School of Pharmaceutical Science and Technology Faculty of MedicineTianjin UniversityTianjin 300193China State Key Laboratory for Quality Ensurance and Sustainable Use of Dao-di Herbs China Academy of Chinese Medical SciencesBeijing 100700China Key Laboratory of Modern Chinese Medicine Resources Research Enterprises Tianjin 300402China

Background:Rosa chinensis *** Rosa rugosa *** not only of ornamental value,but also edible flowers and the flower buds have been listed in the Chinese Pharmacopoeia as traditional *** two plants have some differences in efficacy,but the flower buds are easily confused for similar *** addition,large-scale cultivation of ornamental rose flowers may lead to a decrease in the effective components of medicinal ***,it is necessary to study the chemical composition and make quality evaluation of Rosae Chinensis Flos(Yueji)and Rosae Rugosae Flos(Meigui).Methods:In this study,40 batches of samples including Meigui and Yueji from different regions in China were collected to establish high-performance liquid chromatography ***,the fingerprints data was analyzed using principal component analysis,hierarchical cluster analysis,and partial least squares discriminant analysis analysis chemometrics to obtain information on intergroup differences,and non-targeted metabolomic techniques were applied to identify and compare chemical compositions of samples which were chosen from groups with large *** compounds were screened by orthogonal partial least-squares discriminant analysis and S-plot,and finally multi-component quantification was performed to comprehensively evaluate the quality of Yueji and ***:The similarity between the fingerprints of 40 batches roses and the reference print R was 0.73 to 0.93,indicating that there were similarities and differences between the *** principal component analysis and hierarchical cluster analysis of fingerprints data,the samples from different origins and varieties were intuitively divided into four *** least-squares discriminant analysis analysis showed that Meigui and Yueji cluster into two categories and the model was reliable.A total of 89 compounds were identified by high resolution mass spectrometry,mainly were flavonoids and flavon

关键词： Rosa chinensis Jacq. Rosa rugosa Thunb. metabolomics chemometrics multiple component quantification quality evaluation

Deciphering fungal metabolon coupling tandem inverse-electrondemand Diels-Alder reaction and semipinacol rearrangement for the biosynthesis of spiro polycyclic alkaloids

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Science China Chemistry 2025年第01期 288-296页

作者： Shuai Liu wen-Qiang Xu Ying-Tong Di Man-Cheng Tang Ding-Kang Chen Ming-Ming Cao Yao-wen Chang Hong-Yu Tang Chun-Mao yuan Jun-Bo Yang Zhi-Li Zuo Han Guo Zi-Fei Xu Ying Zeng Yun-Dong Wu Xiao-Jiang Hao Key Laboratory of Phytochemistry and Natural Medicines (Chinese Academy of Sciences) Kunming Institute of Botany Chinese Academy of Sciences University of Chinese Academy of Sciences Lab of Computational Chemistry and Drug Design State Key Laboratory of Chemical Oncogenomics Peking University Shenzhen Graduate School Shenzhen Bay Laboratory State Key Laboratory of Microbial Metabolism School of Life Sciences & Biotechnology Shanghai Jiao Tong University State Key Laboratory of Functions and Applications of Medicinal Plants Guizhou Medical University Molecular Biology Experimental Center Germplasm Bank of Wild Species in Southwest China Kunming Institute of Botany Chinese Academy of Sciences Yunnan Key Laboratory for Wild Plant Resources Kunming Institute of Botany Chinese Academy of Sciences Research Unit of Chemical Biology of Natural Anti-Virus Products Chinese Academy of Medical Sciences

In the intricate process of natural product biosynthesis, a metabolon can enhance metabolic flux by associating sequential enzymes. A fungal metabolon, comprising of flavin-dependent monooxygenase Spe F and P450 monooxygenase Spe G, is identified in the biosynthesis of spiro polycyclic alkaloids(+)-notoamide B and its diastereomer(+)-versicolamide B. Using notoamide E as a substance, Spe F/Spe G metabolon can control the stereoselectivity of its 2,3-epoxidation, followed by hydrogen atom ion at C-17 to generate reactive epoxide tau-m A with dienyl iminium unit. Subsequently,(+)-notoamide B and(+)-versicolamide B are produced via tandem nonenzymatic inverse-electron-demand Diels-Alder reaction and semipinacol rearrangement. This provides the first example of metabolon in the biosynthesis of spiro-prenylated indole alkaloids.

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The application of molecular simulation in ash chemistry of coal

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Chinese Journal of Chemical Engineering 2020年第11期28卷 2723-2732页

作者： Xin Dai Jin Bai Ping yuan Shiyu du Dongtao Li Xiaodongwen wen Li Beijing Key Laboratory of Green Recyclable Process for Iron&Steel Production Technology Beijing 100043China Shougang Group Research Institute of Technology Beijing 100043China State Key Laboratory of Coal Conversion Institute of Coal ChemistryChinese Academy of SciencesTaiyuan 030001China Shanxi Research Institute for Clean Energy Tsinghua UniversityTaiyuan 030032China Engineering Laboratory of Specialty Fibers and Nuclear Materials Institute ofMaterial TechnologiesNingbo Institute ofMaterials Technology&EngineeringChinese Academy of SciencesNingbo 315000China

One of the crucial issues in modern ash chemistry is the realization of efficient and clean coal ***,large-scale coal gasification technology is well known as the foundation to improve the atom *** practice,the coal ash fusibility is a critical factor to determine steady operation standards of the gasifier,which is also the significant criterion to coal species selection for *** coal behaviors are resultant from various evolutions in different scales,the multi-scale understanding of the ash chemistry is of significance to guide the fusibility adjustment for coal *** important roles of molecular simulation in exploring ash chemistry,this paper reviews the recent studies and developments on modeling of molecular systems for fusibility related ash chemistry for the first *** discussions are emphasized on those performed by quantum mechanics and molecular mechanics,the two major simulation methods for microscopic systems,which may provide various insights into fusibility *** review article is expected to present comprehensive information for recent molecular simulations of coal chemistry so that new clues to find strategies controlling the ash fusion behavior can be obtained.

关键词： Coal ash Fusibility Molecular simulation Quantum mechanics Ash fusion temperature Viscosity

[Construction of a 17 β-estradiol sensor based on a magnetic graphene oxide/aptamer separating material]

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Se pu = Chinese journal of chromatography 2025年第1期43卷 87-95页

作者： Xin-Yu Jin Le-yuan Chen Ya-Nna Liu wen-Jing Xie Han-Yong Peng State Key Laboratory of Environmental Chemistry and Ecotoxicology Research Center for Eco-Environmental Sciences Chinese Academy of Sciences Beijing 100085 China. University of Chinese Academy of Sciences Beijing 100049 China. School of Environment Hangzhou Institute for Advanced Study University of Chinese Academy of Sciences Hangzhou 310024 China.

17-Estradiol (E2) is a natural steroidal estrogen essential for a variety of physiological functions in organisms. However, external E2, which is renowned for its potent biological effects, is also considered to be an endocrine-disrupting compound (EDC) capable of disturbing the normal operation of the endocrine system, even at nanogram-per-liter (ng/L) concentrations. Studies have revealed that medical and livestock wastewater can be contaminated with E2, which poses potential risks to human health. Currently, the primary method for detecting E2 relies on liquid chromatography-mass spectrometry, which is limited with regard to on-site or large-scale sample testing due to instrumental constraints. Herein, we developed a magnetic graphene oxide (MGO)/aptamer separating material. The MGO was synthesized by creating a water-in-oil microemulsion at 90 ℃, an agarose hydrogel to load the FeO nanoparticles, and layered graphene oxide (GO). In contrast to conventional methods, such as chemical co-precipitation and solvothermal approaches, this method is more time-efficient and does not require high temperature or pressure. Moreover, the use of a physical encapsulation technique for enwrapping the FeO nanoparticles and layered GO eliminates the need for chemical modification. This approach reduces the use of harmful chemicals, ensures complete loading, and results in highly efficient encapsulation. The MGO was characterized using Fourier-transform infrared (FT-IR) spectroscopy and transmission electron microscopy (TEM), as well as dynamic light scattering (DLS) and Zeta potential analyses, which revealed that the FeO nanoparticles had been successfully loaded onto the GO to produce MGO particles mainly around 5 μm in size. Additionally, this study demonstrated that the aqueous MGO dispersion is highly stable. This substance was used to develop a fluorescent biosensor that uses a "turn-on" mechanism to rapidly and highly sensitively detect E2. MGO is capable of adsorbing a fl

关键词： 17-estradiol (E2) fluorescence biosensor magnetic graphene oxide (MGO) magnetic solid phase separation