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Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing

Current Medical Science 2024年第2期44卷 419-425页

作者： Jia-xun LI ling-rui meng Bao-ke HOU Xiao-lu HAO Da-jiang WANG ling-hui QU Zhao-hui LI Lei ZHANG Xin JIN Department of Senior Ophthalmology the Third Medical Center of PLA General HospitalBeijing 100853China Department of Ophthalmology the 74th Army Group HospitalGuangzhou 510318China

Objective:Autosomal recessive bestrophinopathy(ARB),a retinal degenerative disease,is characterized by central visual loss,yellowish multifocal diffuse subretinal deposits,and a dramatic decrease in the light peak on *** potential pathogenic mechanism involves mutations in the BEST1 gene,which encodes Ca2+-activated Cl−channels in the retinal pigment epithelium(RPE),resulting in degeneration of RPE and *** this study,the complete clinical characteristics of two Chinese ARB families were ***:Pacific Biosciences(PacBio)single-molecule real-time(SMRT)sequencing was performed on the probands to screen for disease-causing gene mutations,and Sanger sequencing was applied to validate variants in the patients and their family ***:Two novel mutations,c.202T>C(chr11:61722628,p.Y68H)and c.867+97G>A,in the BEST1 gene were identified in the two Chinese ARB *** novel missense mutation BEST1 c.202T>C(p.Y68H)resulted in the substitution of tyrosine with histidine in the N-terminal region of transmembrane domain 2 of *** novel variant,BEST1 c.867+97G>A(chr11:61725867),located in intron 7,might be considered a regulatory variant that changes allele-specific binding affinity based on motifs of important transcriptional ***:Our findings represent the first use of third-generation sequencing(TGS)to identify novel BEST1 mutations in patients with ARB,indicating that TGS can be a more accurate and efficient tool for identifying mutations in specific *** novel variants identified further broaden the mutation spectrum of BEST1 in the Chinese population.

关键词： autosomal recessive bestrophinopathy BEST1 gene third-generation sequencing mutation

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Corneal subepithelial nerve fibers in type 2 diabetes:potential biomarker of diabetic neuropathy

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International Journal of Ophthalmology(English edition) 2024年第11期17卷 2060-2066页

作者： ling-rui meng Hua Chen Wen-Qian Chen Yi Gao Zi-Wei Li Zi Ye Zhao-Hui Li Senior Department of Ophthalmology the Third Medical CenterChinese PLA General HospitalBeijing 100039China Medical School of Chinese PLA Beijing 100853China

AIM:To observe the changes in corneal subepithelial nerve fibers(CNFs)and Langerhans cells(LCs)in patients with type 2 diabetes using corneal laser confocal microscopy(CLCM).METHODS:A total of 60 patients(64 eyes),including 40 patients with type 2 diabetes(DM group)and 20 subjects without diabetes(control group)were included with *** J plugin of Image J software were used for quantitative analysis of CNF length(CNFL),CNF density(CNFD),corneal nerve branch fiber density(CNBD),main branch length density,branch length density,corneal nerve fiber tortuosity(NT)score,and LCs *** independent samples t-test to analyze the variability between the two groups was performed,and Pearson correlation analysis was used to analyze the relationships between CNF and multiple biochemical indicators in the DM *** predictive power of CNF for type 2 diabetes was assessed using the receiver operating characteristic(ROC)***:There were significant differences in the CNFL,CNFD,and main branch length density between two *** results of Pearson correlation analysis showed a significant negative correlation between CNFD and the duration of diabetes as well as triglyceride levels and total cholesterol,and a significant positive correlation between CNFD and serum *** addition,the NT score showed a positive correlation and urea nitrogen,similar to the positive correlation observed between LC density and glycosylated hemoglobin(HbA1c)*** showed the highest area under the curve(AUC of ROC)value,followed by main branch length density and *** AUC of the ROC curve under the logistic regression model also demonstrated good predictive *** cut-off values of CNFD,CNFL,and main branch length density for diabetes showed 31.25,18.85,and 12.56,***:In patients with type 2 diabetes,there is a notable reduction in both CNFL and *** measurements can be influenced by various blood biochemical ***,the compromised n

关键词： corneal subepithelial nerve diabetes glycated hemoglobin Langerhans cells diabetic neuropathy

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Progress of research in the application of ultrasound technology for the treatment of Alzheimer’s disease

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Neural Regeneration Research 2025年第10期20卷 2823-2837页

作者： Qiuquan Cai Lianghui meng Meina Quan ling Wang Jing Ren Chenguang Zheng Jiajia Yang Dong Ming Academy of Medical Engineering and Translational Medicine Tianjin UniversityTianjinChina Innovation Center for Neurological Disorders Xuanwu HospitalCapital Medical UniversityBeijingChina Brain-Computer Interaction and Human-Machine Fusion Haihe Laboratory Tianjin UniversityTianjinChina Tianjin Key Laboratory of Brain Science and Neural Engineering Tianjin UniversityTianjinChina

Alzheimer’s disease is a common neurodegenerative disorder defined by decreased reasoning abilities,memory loss,and cognitive *** presence of the blood-brain barrier presents a major obstacle to the development of effective drug therapies for Alzheimer’s *** use of ultrasound as a novel physical modulation approach has garnered widespread attention in recent *** a safe and feasible therapeutic and drug-delivery method,ultrasound has shown promise in improving cognitive *** article provides a summary of the application of ultrasound technology for treating Alzheimer’s disease over the past 5 years,including standalone ultrasound treatment,ultrasound combined with microbubbles or drug therapy,and magnetic resonance imaging-guided focused ultrasound *** is placed on the benefits of introducing these treatment methods and their potential *** found that several ultrasound methods can open the blood-brain barrier and effectively alleviate amyloid-βplaque *** believe that ultrasound is an effective therapy for Alzheimer’s disease,and this review provides a theoretical basis for future ultrasound treatment methods.

关键词： Alzheimer’s disease blood-brain barrier drugs magnetic resonance imaging-guided focused ultrasound microbubbles scanning ultrasound ultrasound ultrasound stimulation

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Mechanism of inflammatory response and therapeutic effects of stem cells in ischemic stroke:current evidence and future perspectives

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Neural Regeneration Research 2025年第1期20卷 67-81页

作者： Yubo Wang Tingli Yuan Tianjie Lyu ling Zhang meng Wang Zhiying He Yongjun Wang Zixiao Li Vascular Neurology Department of NeurologyBeijing Tiantan HospitalCapital Medical UniversityBeijingChina China National Clinical Research Center for Neurological Diseases Beijing Tiantan HospitalCapital Medical UniversityBeijingChina Shanghai Engineering Research Center of Stem Cells Translational Medicine ShanghaiChina National Center for Healthcare Quality Management in Neurological Diseases Beijing Tiantan HospitalCapital Medical UniversityBeijingChina Institute for Regenerative Medicine Shanghai East HospitalSchool of Life Sciences and TechnologyTongji UniversityShanghaiChina Chinese Institute for Brain Research BeijingChina Research Unit of Artificial Intelligence in Cerebrovascular Disease Chinese Academy of Medical SciencesBeijingChina Beijing Engineering Research Center of Digital Healthcare for Neurological Diseases BeijingChina

Ischemic stroke is a leading cause of death and disability worldwide,with an increasing trend and tendency for onset at a younger ***,in particular,bears a high burden of stroke *** recent years,the inflammatory response after stroke has become a research hotspot:understanding the role of inflammatory response in tissue damage and repair following ischemic stroke is an important direction for its *** review summarizes several major cells involved in the inflammatory response following ischemic stroke,including microglia,neutrophils,monocytes,lymphocytes,and ***,we have also highlighted the recent progress in various treatments for ischemic stroke,particularly in the field of stem cell ***,understanding the complex interactions between inflammation and ischemic stroke can provide valuable insights for developing treatment strategies and improving patient *** cell therapy may potentially become an important component of ischemic stroke treatment.

关键词： cell therapy immune cell inflammatory ischemic stroke stem cell

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Effects of aggregate size distribution and carbon nanotubes on the mechanical properties of cemented gangue backfill samples under true triaxial compression

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International Journal of Minerals,Metallurgy and Materials 2025年第2期32卷 311-324页

作者： Qian Yin Fan Wen Zhigang Tao Hai Pu Tianci Deng Yaoyao meng Qingbin meng Hongwen Jing Bo meng Jiangyu Wu State Key Laboratory of Intelligent Construction and Healthy Operation and Maintenance of Deep Underground Engineering China University of Mining and TechnologyXuzhou 221116China State Key Laboratory of Mining Response and Disaster Prevention and Control in Deep Coal Mines Anhui University of Science and TechnologyHuainan 232001China State Key Laboratory for Geomechanics&Deep Underground Engineering China University of Mining and Technology(Beijing)Beijing 100083China Key Laboratory of Xinjiang Coal Resources Green Mining Ministry of EducationXinjiang Institute of EngineeringUrumqi 830023China

The mechanical behavior of cemented gangue backfill materials(CGBMs)is closely related to particle size distribution(PSD)of aggregates and properties of cementitious ***,the true triaxial compression tests,CT scanning,SEM,and EDS tests were conducted on cemented gangue backfill samples(CGBSs)with various carbon nanotube concentrations(P_(CNT))that satisfied fractal theory for the PSD of *** mechanical properties,energy dissipations,and failure mechanisms of the CGBSs under true triaxial compression were systematically *** results indicate that appropriate carbon nanotubes(CNTs)effectively enhance the mechanical properties and energy dissipations of CGBSs through micropore filling and microcrack bridging,and the optimal effect appears at P_(CNT)of 0.08wt%.Taking PSD fractal dimension(D)of 2.500 as an example,compared to that of CGBS without CNT,the peak strength(σ_(p)),axial peak strain(ε_(1,p)),elastic strain energy(Ue),and dissipated energy(U_(d))increased by 12.76%,29.60%,19.05%,and90.39%,***,excessive CNTs can reduce the mechanical properties of CGBSs due to CNT agglomeration,manifesting a decrease inρ_(p),ε_(1,p),and the volumetric strain increment(Δε_(v))when P_(CNT)increases from 0.08wt%to 0.12wt%.Moreover,the addition of CNTs improved the integrity of CGBS after macroscopic failure,and crack extension in CGBSs appeared in two modes:detour and pass through the ***σ_(p)and U_(d)firstly increase and then decrease with increasing D,and porosity shows the opposite ***ε_(1,p)andΔε_(v)are negatively correlated with D,and CGBS with D=2.150 has the maximum deformation parameters(ε_(1,p)=0.05079,Δε_(v)=0.01990)due to the frictional slip effect caused by coarse *** increasing D,the failure modes of CGBSs are sequentially manifested as oblique shear failure,"Y-shaped"shear failure,and conjugate shear failure.

关键词： cemented gangue backfill materials particle size distribution true triaxial compression test carbon nanotubes mechanical properties failure modes

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The emerging role of nitric oxide in the synaptic dysfunction of vascular dementia

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Neural Regeneration Research 2025年第2期20卷 402-415页

作者： Xiaorong Zhang Zhiying Chen Yinyi Xiong Qin Zhou ling-Qiang Zhu Dan Liu Department of Pathology Affiliated Hospital of Jiujiang UniversityJiujiangJiangxi ProvinceChina Jiujiang Clinical Precision Medicine Research Center JiujiangJiangxi ProvinceChina Center for Cognitive Science and Transdisciplinary Studies Jiujiang UniversityJiangxi ProvinceChina Department of Neurology Affiliated Hospital of Jiujiang UniversityJiujiangJiangxi ProvinceChina Department of Rehabilitation Affiliated Hospital of Jiujiang UniversityJiujiangJiangxi ProvinceChina Department of Pathophysiology School of Basic MedicineTongji Medical CollegeHuazhong University of Science and TechnologyWuhanHubei ProvinceChina

With an increase in global aging,the number of people affected by cerebrovascular diseases is also increasing,and the incidence of vascular dementia-closely related to cerebrovascular risk-is increasing at an epidemic ***,few therapeutic options exist that can markedly improve the cognitive impairment and prognosis of vascular dementia *** in Alzheimer’s disease and other neurological disorders,synaptic dysfunction is recognized as the main reason for cognitive *** oxide is one of the ubiquitous gaseous cellular messengers involved in multiple physiological and pathological processes of the central nervous ***,nitric oxide has been implicated in regulating synaptic plasticity and plays an important role in the pathogenesis of vascular *** review introduces in detail the emerging role of nitric oxide in physiological and pathological states of vascular dementia and summarizes the diverse effects of nitric oxide on different aspects of synaptic dysfunction,neuroinflammation,oxidative stress,and blood-brain barrier dysfunction that underlie the progress of vascular ***,we propose that targeting the nitric oxide-sGC-cGMP pathway using certain specific approaches may provide a novel therapeutic strategy for vascular dementia.

关键词： endoplasmic reticulum stress endothelial nitric oxide synthase gene therapy nitric oxide NO-sGC-cGMP pathway synaptic dysfunction vascular dementia

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Fanlian Huazhuo formula:A promising therapeutic approach for metabolic associated steatotic liver disease

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World Journal of Gastroenterology 2025年第1期31卷 167-171页

作者： Chun-Han Cheng Wen-rui Hao Tzu-Hurng Cheng Department of Medical Education Linkou Chang Gung Memorial HospitalTaoyuan 33305Taiwan Division of Cardiology Department of Internal MedicineShuang Ho HospitalMinistry of Health and WelfareTaipei Medical UniversityNew Taipei 23561Taiwan Division of Cardiology Department of Internal MedicineSchool of MedicineCollege of MedicineTaipei Medical UniversityTaipei 11002Taiwan Department of Biochemistry School of MedicineCollege of MedicineChina Medical UniversityTaichung 404328Taiwan

This article reviews the study,“Fanlian huazhuo formula alleviates high-fat-dietinduced nonalcoholic fatty liver disease by modulating autophagy and lipid synthesis signaling pathway”published in the World Journal of *** study explores the therapeutic potential of Fanlian Huazhuo formula(FLHZF)in treating metabolic-associated steatotic liver disease(MASLD),demonstrating that FLHZF reduces lipid accumulation,oxidative stress,and liver injury in MASLD models by modulating key signaling pathways involved in lipid metabolism and *** editorial emphasizes the potential of FLHZF as a treatment for MASLD and calls for further research to verify its clinical efficacy.

关键词： Fanlian Huazhuo formula Metabolic associated steatotic liver disease Autophagy Lipid metabolism Oxidative stress

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The autophagy-lysosome pathway:a potential target in the chemical and gene therapeutic strategies for Parkinson’s disease

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Neural Regeneration Research 2025年第1期20卷 139-158页

作者： Fengjuan Jiao lingyan meng Kang Du Xuezhi Li School of Mental Health Jining Medical UniversityJiningShandong ProvinceChina Shandong Collaborative Innovation Center for Diagnosis Treatment and Behavioral Interventions of Mental DisordersInstitute of Mental HealthJining Medical UniversityJiningShandong ProvinceChina

Parkinson’s disease is a common neurodegenerative disease with movement disorders associated with the intracytoplasmic deposition of aggregate proteins such asα-synuclein in *** one of the major intracellular degradation pathways,the autophagy-lysosome pathway plays an important role in eliminating these *** evidence has shown that upregulation of the autophagy-lysosome pathway may contribute to the clearance ofα-synuclein aggregates and protect against degeneration of dopaminergic neurons in Parkinson’s ***,multiple genes associated with the pathogenesis of Parkinson’s disease are intimately linked to alterations in the autophagy-lysosome ***,this pathway appears to be a promising therapeutic target for treatment of Parkinson’s *** this review,we briefly introduce the machinery of ***,we provide a description of the effects of Parkinson’s disease–related genes on the autophagy-lysosome ***,we highlight the potential chemical and genetic therapeutic strategies targeting the autophagy–lysosome pathway and their applications in Parkinson’s disease.

关键词： autophagy chemical therapy gene therapy Parkinson’s disease α-synuclein

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miRNA-21-5p is an important contributor to the promotion of injured peripheral nerve regeneration using hypoxia-pretreated bone marrow-derived neural crest cells

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Neural Regeneration Research 2025年第1期20卷 277-290页

作者： meng Cong Jing-Jing Hu Yan Yu Xiao-Li Li Xiao-Ting Sun Li-Ting Wang Xia Wu ling-Jie Zhu Xiao-Jia Yang Qian-Ru He Fei Ding Hai-Yan Shi School of Medicine Nantong UniversityNantongJiangsu ProvinceChina Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education and Coinnovation Center of Neuroregeneration Nantong UniversityNantongJiangsu ProvinceChina Department of Physiology Jiangsu Health Vocational CollegeNanjingJiangsu ProvinceChina Department of Pathology Affiliated Hospital of Nantong UniversityNantongJiangsu ProvinceChina Jiangsu Clinical Medicine Center of Tissue Engineering and Nerve Injury Repair Affiliated Hospital of Nantong UniversityNantongJiangsu ProvinceChina

Our previous study found that rat bone marrow–derived neural crest cells(acting as Schwann cell progenitors)have the potential to promote long-distance nerve ***-based therapy can enhance peripheral nerve repair and regeneration through paracrine bioactive factors and intercellular ***,the complex contributions of various types of soluble cytokines and extracellular vesicle cargos to the secretome remain *** investigate the role of the secretome and extracellular vesicles in repairing damaged peripheral nerves,we collected conditioned culture medium from hypoxia-pretreated neural crest cells,and found that it significantly promoted the repair of sensory neurons damaged by oxygen-glucose *** mRNA expression of trophic factors was highly expressed in hypoxia-pretreated neural crest *** performed RNA sequencing and bioinformatics analysis and found that miR-21-5p was enriched in hypoxia-pretreated extracellular vesicles of neural crest ***,to further clarify the role of hypoxia-pretreated neural crest cell extracellular vesicles rich in miR-21-5p in axonal growth and regeneration of sensory neurons,we used a microfluidic axonal dissociation model of sensory neurons in vitro,and found that hypoxia-pretreated neural crest cell extracellular vesicles promoted axonal growth and regeneration of sensory neurons,which was greatly dependent on loaded ***,we constructed a miR-21-5p-loaded neural conduit to repair the sciatic nerve defect in rats and found that the motor and sensory functions of injured rat hind limb,as well as muscle tissue morphology of the hind limbs,were obviously *** findings suggest that hypoxia-pretreated neural crest extracellular vesicles are natural nanoparticles rich in ***-21-5p is one of the main contributors to promoting nerve regeneration by the neural crest cell *** helps to explain the mechanism of action of the secretome and e

关键词： axotomy cell-free therapy conditioned medium extracellular vesicles hypoxic preconditioning microRNA oxygen-glucose deprivation peripheral nerve injury Schwann cell precursors

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A cellulose-based lithium-ion battery separator with regulated ionic transport and high thermal stability for extreme environments

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Nano Research 2025年第1期18卷 315-322页

作者： Kun-Peng Yang Song Xie Zi-meng Han Hao-Cheng Liu Chong-Han Yin Wen-Bin Sun Zhang-Chi ling Huai-Bin Yang De-Han Li Qing-Fang Guan Shu-Hong Yu Department of Chemistry New Cornerstone Science LaboratoryInstitute of Biomimetic Materials&ChemistryAnhui Engineering Laboratory of Biomimetic MaterialsDivision of Nanomaterials&ChemistryHefei National Research Center for Physical Sciences at the MicroscaleUniversity of Science and Technology of ChinaHefei 230026China Institute of Innovative Materials Department of Materials Science and EngineeringDepartment of ChemistrySouthern University of Science and TechnologyShenzhen 518055China

Separators play a critical role in lithium-ion ***,the restrictions of thermal stability and inferior electrical performance in commercial polyolefin separators significantly limit their applications under harsh ***,we report a cellulose-assisted self-assembly strategy to construct a cellulose-based separator massively and *** an ultrahigh ionic conductivity in electrolytes of 3.7 mS·cm^(-1) and the ability to regulate ion transport,the obtained separator is a promising alternative for high-performance lithium-ion *** addition,integrated with high thermal stability,the cellulose-based separator endows batteries with high safety at high temperatures,greatly expanding the application scenarios of energy storage devices in extreme environments.

关键词： lithium-ion batteries bio-inspired materials battery separators cellulose nanofiber ultrahigh ionic conductivity high safety

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