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Novel MIP gene mutation causes autosomal-dominant congenital cataract

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International Journal of Ophthalmology(English edition) 2024年第3期17卷 454-465页

作者： Jing-Lan Ni Hua-Ming wen Xiao-Sheng Huang Qian-wen Li jia-Min Cai Bao-jian Fan Jun Zhao The Second Clinical Medical College Jinan UniversityShenzhen 518020Guangdong ProvinceChina Department of Ophthalmology Dongguan Chang’an HospitalDongguan 523843Guangdong ProvinceChina Shenzhen Eye Hospital Affiliated to Jinan University Shenzhen Eye InstituteShenzhen 518040Guangdong ProvinceChina Department of Oral&Maxillofacial Surgery Shenzhen Stomatology Hospital Affiliated to Shenzhen UniversityShenzhen 518040Guangdong ProvinceChina Department of Neurosurgery Massachusetts General Hospital and Harvard Medical SchoolBoston 02114MassachusettsUSA Department of Ophthalmology Shenzhen People’s Hospital(the Second Clinical Medical CollegeJinan Universitythe First Affiliated HospitalSouthern University of Science and Technology)Shenzhen 518020Guangdong ProvinceChina

●AIM:To identify disease-causative mutations in families with congenital cataract.●METHODS:Two Chinese families with autosomaldominant congenital cataract(ADCC)were recruited and underwent comprehensive eye *** panel next-generation sequencing of common pathogenic genes of congenital cataract was performed in the proband of each *** sequencing was used to valid the candidate gene mutations and sequence the other family members for co-segregation *** effect of sequence changes on protein structure and function was predicted through bioinformatics *** intrinsic protein(MIP)-wildtype and MIP-G29R plasmids were constructed and microinjected into zebrafish single-cell stage *** embryonic lens phenotypes were screened using confocal microscopy.●RESULTS:A novel heterozygous mutation(c.85G>A;p.G29R)in the MIP gene was identified in the proband of one family.A known heterozygous mutation(c.97C>T;p.R33C;rs864309693)in MIP was found in the proband of another ***-silico prediction indicated that the novel mutation might affect the MIP protein *** embryonic lens was uniformly transparent in both wild-type PCS2+MIP and mutant PCS2+MIP.●CONCLUSION:Two missense mutations in the MIP gene in Chinese cataract families are identified,and one of which is *** findings expand the genetic spectrum of MIP mutations associated with *** functional studies suggest that the novel MIP mutation might not be a gain-of-function but a loss-of-function mutation.

关键词： congenital cataract major intrinsic protein missense mutation zebrafish model

Experimental Analysis of Radial Centrifugal Pump Shutdown

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Fluid Dynamics & Materials Processing 2024年第4期20卷 725-737页

作者： Xiao Sun jiangbo Tong Yuliang Zhang Haibing Cai wen Zhou Xiaoqi jia Litao Ou School of Mechanical Engineering Hunan University of TechnologyZhuzhou412007China College of Mechanical Engineering Quzhou UniversityQuzhou324000China Zhejiang Testing&Inspection Institute for Mechanical and Electrical Products Quality Co. Ltd.Hangzhou310014China Quzhou Special Equipment Inspection Center Quzhou324000China The Zhejiang Provincial Key Lab of Fluid Transmission Technology Zhejiang Sci-Tech UniversityHangzhou310018China Zhuzhou Nanfang Valve Co. Ltd.Zhuzhou412000China

Centrifugal pumps are widely used in the metallurgy,coal,and building *** order to study the hydraulic characteristics of a closed impeller centrifugal pump during its shutdown in the so-called power frequency and frequency conversion modes,experiments were carried to determine the characteristic evolution of parameters such as speed,inlet and outlet pressure,head,flow rate and shaft power.A quasi-steady-state method was also used to further investigate these transient *** results show that,compared to the power frequency input,the performance parameter curves for the frequency conversion input are less volatile and *** characteristic time is longer and the response to shutdown is *** quasi-steady-state theoretical head-flow curves match the experimental head-flow curves more closely at low flow rates when the frequency conversion input is ***,in this case,the similarity law predicts the hydraulic performance more accurately.

关键词： Centrifugal pump power frequency frequency conversion shutdown external characteristic experimental study

Transition metals for stabilizing lithium metal anode:advances and perspectives

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Tungsten 2024年第1期6卷 212-229页

作者： Si-Cheng Miao Ye jia Zhi-wen Deng Yan Deng Ruo-Xuan Chen Xue-Mei Zhang Chang-Haoyue Xu Meng Yao wen-Long Cai Department of Advanced Energy Materials College of Materials Science and EngineeringSichuan UniversityChengdu 610064China

As the capacity of lithium-ion batteries gradually reaches its limit,the high-capacity characteristics of lithium metal batteries(LMBs)make them one of the most promising electrochemical energy storage devices ***,uncontrolled lithium dendrite growth can cause poor cell performance and severe safety issues,seriously slowing down the commercialization of *** metals(TMs)are lithiophilic materials that effectively stabilize lithium metal anode(LMA)and inhibit dendrite ***,the growth of lithium dendrites and the performance of TMs in stabilizing lithium metals are comprehensively discussed in this ***,we elucidated the formation mechanisms of lithium dendrite,and we put forward several strategies to suppress lithium dendrite formation based on the understanding of these ***,the application of TMs and their compounds to stabilize LMA and their corresponding mechanisms are comprehensively ***,further research perspectives of TMs in stabilizing LMA are emphasized in detail.

关键词： Transition metals Lithium metal batteries Lithium dendrite Solid electrolyte interphase Formation mechanism

Application and progress of artificial intelligence technology in the segmentation of hyperreflective foci in OCT images for ophthalmic disease research

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International Journal of Ophthalmology(English edition) 2024年第6期17卷 1138-1143页

作者： jia-Ning Ying Hu Li Yan-Yan Zhang wen-Die Li Quan-Yong Yi Ningbo Eye Hospital Wenzhou Medical UniversityNingbo 315042Zhejiang ProvinceChina Health Science Center Ningbo UniversityNingbo 315211Zhejiang ProvinceChina

With the advancement of retinal imaging,hyperreflective foci(HRF)on optical coherence tomography(OCT)images have gained significant attention as potential biological biomarkers for retinal ***,these biomarkers,represented by HRF,present pose challenges in terms of localization,quantification,and require substantial time and *** recent years,the progress and utilization of artificial intelligence(AI)have provided powerful tools for the analysis of biological *** technology enables use machine learning(ML),deep learning(DL)and other technologies to precise characterization of changes in biological biomarkers during disease progression and facilitates quantitative *** on ophthalmic images,AI has significant implications for early screening,diagnostic grading,treatment efficacy evaluation,treatment recommendations,and prognosis development in common ophthalmic ***,it will help reduce the reliance of the healthcare system on human labor,which has the potential to simplify and expedite clinical trials,enhance the reliability and professionalism of disease management,and improve the prediction of adverse *** article offers a comprehensive review of the application of AI in combination with HRF on OCT images in ophthalmic diseases including age-related macular degeneration(AMD),diabetic macular edema(DME),retinal vein occlusion(RVO)and other retinal diseases and presents prospects for their utilization.

关键词： artificial intelligence deep learning hyperreflective foci image analysis

Analysis of factors impacting postoperative pain and quality of life in patients with mixed hemorrhoids:A retrospective study

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World Journal of Gastrointestinal Surgery 2024年第3期16卷 731-739页

作者： Xiao-wen Sun Jing-Yi Xu Chang-Zhen Zhu Si-jia Li Lu-jia Jin Zhi-Dong Zhu Department of Gastrointestinal Surgery Tsinghua University Affiliated Beijing Tsinghua Changgeng HospitalBeijing 102218China Surgical Department Tsinghua University Affiliated Beijing Tsinghua Changgeng HospitalBeijing 102218China

BACKGROUND Hemorrhoids are among the most common and frequently encountered chronic anorectal diseases in anorectal *** are venous clusters formed by con-gestion,expansion,and flexion of the venous plexus in the lower part of the *** hemorrhoids bleed easily and recurrently,and this can result in severe ***,they may have a negative effect on the health of the patient and surgical treatment is ***-Morgan hemorrhoidectomy has been widely used since 1937 for the treatment of grade III and IV ***-ever,most patients experience different degrees of postoperative pain that may cause *** mixed hemorrhoids *** The clinical data of patients with mixed hemorrhoids who underwent Milligan-Morgan hemorrhoidectomy were collected *** basic character-istics of the enrolled patients with mixed hemorrhoids were recorded,and based on the Goligher clinical grading system,the hemorrhoids were classified as grades III or *** endpoint of this study was the disappearance of pain in all *** data were presented as mean±SD,such as age,pain score,and QoL ***’s t-test was used to compare the *** A total of 164 patients were *** distribution of the visual analog scale pain scores of all patients at 3,7,14 and 28 d after surgery showed that post-surgery pain was significantly reduced with the passage of *** days after the operation,the pain had completely disappeared in some ***-eight days after the surgery,none of the patients experienced any *** the World Health Or-ganization Quality of Life-BREF self-reporting questionnaire scores of patients between 14 and 28 d after surgery,we observed that the quality-of-life scores of the patients post-surgery had significantly *** were six items that were compared at 14-and 28-d *** mean QoL score 28 d after surgery(4.79±0.46)was higher than that at 14 d p

关键词： Hemorrhoids Mixed hemorrhoids Milligan organ hemorrhoidectomy Postoperative pain Quality of life Anesthesia mode

Beware of the serious harm of veterinary drug poisoning:a case report

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World Journal of Emergency Medicine 2024年第2期15卷 153-155页

作者： Ping dai Jin Sun Tongyue Zhang Zhiqiang Zhou Zixi wen Tianzi jian Aerbusili Genjiafu Baotian Kan Xiangdong jian Department of Poisoning and Occupational Diseases Emergency MedicineQilu HospitalCheeloo College of MedicineShandong UniversityJinan 250012China Emergency Department Affiliated the Jianhu Clinical Medical College of Yangzhou UniversityYancheng 224700China Department of Occupational and Environmental Health School of Public HealthCheeloo College of MedicineShandong UniversityJinan 250012China School of Nursing and Rehabilitation Cheeloo College of MedicineShandong UniversityNursing Theory&Practice Innovation Research Center of Shandong UniversityJinan 250012China Department of Geriatric Medicine Qilu HospitalNursing Theory Innovation and Research Center of Shandong UniversityCheeloo College of MedicineShandong UniversityJinan 250012China

Veterinary drugs are substances(including pharmaceutical feed additives)used to prevent,treat,and diagnose diseases or regulate the physiological functions of *** drug poisoning in humans is relatively rare both in China and the rest of the ***,we report a case of death from veterinary drug poisoning from ***-closantel is a broad-spectrum antiparasitic drug,which has high efficacy against a variety of trematodes and nematodes.

关键词： drug drugs diseases

Single-cell transcriptomic analysis reveals transcript enrichment in oxidative phosphorylation,fluid sheer stress,and inflammatory pathways in obesity-related glomerulopathy

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Genes & Diseases 2024年第4期11卷 314-326页

作者： Yinyin Chen Yushun Gong jia Zou Guoli Li Fan Zhang Yiya Yang Yumei Liang wenni dai Liyu He Hengcheng Lu Department of Nephrology Hunan Provincial People's HospitalThe First Affliated Hospital of Hunan Normal UniversityHunan Clinical Research Center for Chronic Kidney DiseaseChangshaHunan 410000China Department of Nephrology The Second Xiangya Hospital of Central South UniversityHunan Key Laboratory of Kidney Disease and Blood PurificationChangshaHunan 410011China Cardiovascular Research Institute of jiangxi Province Jiangxi Provincial People's HospitalThe First Affiliated Hospital of Nanchang Medical CollegeNanchangJiangxi 330006China

Obesity-related glomerulopathy(ORG)is an independent risk factor for chronic kid-ney disease and even progression to end-stage renal *** have been undertaken to elucidate the mechanisms underlying the development of ORG and substantial advances have been made in the treatment of ORG,but relatively little is known about cell-specific changes in gene *** define the transcriptomic landscape at single-cell resolution,we analyzed kidney samples from four patients with ORG and three obese control subjects without kidney disease using single-cell RNA *** report for the first time that immune cells,including T cells and B cells,are decreased in ORG *** analysis indicated that SPP1 was significantly up-regulated in T cells and B *** gene is related to inflammation and cell *** of differential gene expression in glomerular cells(endothelial cells,mesangial cells,and podocytes)showed that these cell types were mainly enriched in genes related to oxidative phosphorylation,cell adhesion,thermogenesis,and inflammatory pathways(PI3K-Akt signaling,MAPK signaling).Furthermore,we found that the podocytes of ORG patients were enriched in genes related to the fluid shear stress ***,an evaluation of cell-cell communications revealed that there were interactions between glomerular parietal epithelial cells and other cells in ORG patients,with major interactions between parietal epithelial cells and ***,our identification of molecular events,cell types,and differentially expressed genes may facilitate the development of new preventive or therapeutic approaches for ORG.

关键词： Fluid shear stress Inflammation Obesity-related glomerulopathy Oxidative phosphorylation Single-cell RNA seq

An index system for evaluation of agriculture green development at county level in China

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Frontiers of Agricultural Science and Engineering 2024年第1期11卷 55-68页

作者： Xiao XU Yanxiang jia Yuan FENG Haixing ZHANG wen XU Qichao ZHU Beautiful Rural Construction Center Quzhou 324003China College of Resources and Environment China Agricultural UniversityBeijing 100193China National Academy of Agriculture Green Development China Agricultural UniversityBeijing 100193China

Agriculture green development(AGD)has become an unavoidable choice to address the unique national circumstances of *** study established a county-level AGD evaluation index system,comprised three dimensions,food production,ecological environment and socioeconomic development,using 20 *** assessment delved into historical trend and current situation,utilizing Spearman rank correlation analysis to analyze trade-off and synergy relationships,using Quzhou County,Hebei Province as a case *** main findings were in four ***,the index for AGD in Quzhou County increased by 58.9%from 1978 to *** major contribution were the social economy(65.8%)and food production(53.5%),whereas the ecological environment was found to have had a negative ***,in 2019,the AGD index was only 56.4,indicating substantial potential for improvement relative to the target value.A notable difference in scores existed between the three dimensions,with the order being ecological environment(66.3)>food production(61.7)>socioeconomic(41.3).Also,90%of the indicators did not reach the target ***,relationship analysis of the indicators revealed that the synergistic effect exceeded the trade-off ***,46.3%of the indicators had no significant relationship,35.3%had a synergistic relationship,and 18.4%had a trade-off ***,interdimensional indicator relationships exhibited a trade-off effect between the ecological environment and both food production and socioeconomic ***,a positive trend of synergy between production and ecology has emerged since *** conclusion,the quantitative evaluation index system exposed the unbalanced development and significant potential relative to the target value of AGD in Quzhou County,despite notable progress.

关键词： Agriculture green development index system quantitative evaluation Spearman correlation analysis

Role of savolitinib in advanced gastric adenocarcinoma with meningeal carcinomatosis and cerebellar metastasis:A case report

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World Journal of Clinical Cases 2024年第15期12卷 2636-2641页

作者： Zhi-Yun weng wen-Ye Huang Bin-Kan Shi jian-jia Pan Department of Hematology The Affiliated Yueqing Hospital of Wenzhou Medical UniversityYueqing 325600Zhejiang ProvinceChina

BACKGROUND Brain metastases(BM)are very rare in gastric adenocarcinoma(GaC),and patients with BMs have a higher mortality rate due to stronger tumor ***,its pathogenesis remains *** testing revealed cellular-mesenchymal epithelial transition factor receptor(MET)***,treatment with savolitinib,a small molecule inhibitor of c-Met,was *** SUMMARY A 66-year-old woman was diagnosed with advanced GaC 6 months prior to presentation due to back *** and meningeal metastases were observed during candonilimab combined with oxaliplatin and capecitabine *** patient experienced frequent generalized seizures and persistent drowsiness in the emergency *** testing of cerebrospinal fluid and peripheral blood revealed increased MET *** discussing treatment options with the patient,savolitinib tablets were *** a month of treatment,the intracranial lesions shrank *** BM is very rare in advanced GaC,especially in meningeal cancer,that is characterized by rapid disease *** are very few effective treatment options available;however,technological breakthroughs in genomics have provided a basis for personalized ***,MET amplification may be a key driver of BM in gastric cancer;however,this conclusion requires further investigation.

关键词： Cellular-mesenchymal epithelial transition factor receptor Savolitinib Meningeal carcinomatosis Gastric adenocarcinoma Case report