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Mental retardation,seizures and language delay caused by new SETD1B mutations:Three case reports

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World Journal of Clinical Cases 2024年第2期12卷 383-391页

作者： Le Ding li-Wan Wei tai-Song li Jing Chen Department of Neurology Children’s Hospital of Nanjing Medical UniversityNanjing 210000Jiangsu ProvinceChina Chigene(Beijing)Translational Medical Research Center Co.Ltd.Beijing 101111China

BACKGROUND The SETD1B gene is instrumental in human intelligence and nerve development.Mutations in the SETD1B gene have been linked in recent studies to neurodevelopmental disorders,seizures,and language delay.CASE SUMMARY This study aimed to analyze the clinical manifestations and treatment of three patients suffering from mental retardation,epilepsy,and language delay resulting from a new mutation in the SETD1B gene.Three individuals with these symptoms were selected,and their clinical symptoms,gene test results,and treatment were analyzed.This article discusses the impact of the SETD1B gene mutation on patients and outlines the treatment approach.Among the three patients(two females and one male,aged 8,4,and 1,respectively),all exhibited psychomotor retardation,attention deficit,and hyperactivity disorder,and two had epilepsy.Antiepileptic treatment with sodium tripolyvalproate halted the seizures in the affected child,although mental development remained somewhat delayed.Whole exome sequencing revealed new mutations in the SETD1B gene for all patients,specifically with c.5473C>T(p.Arg1825trp),c.4120C>T(p.Gln1374*,593),c.14_15insC(p.His5Hisfs*33).CONCLUSION Possessing the SETD1B gene mutation may cause mental retardation accompanied by seizures and language delay.Although the exact mechanism is not fully understood,interventions such as drug therapy,rehabilitation training,and family support can assist patients in managing their symptoms and enhancing their quality of life.Furthermore,genetic testing supplies healthcare providers with more precise diagnostic and therapeutic guidance,informs families about genetic disease risks,and contributes to understanding disease pathogenesis and drug research and development.

关键词： Neurodevelopmental disorder Seizure SETD1B gene Whole-exome sequencing New mutation Case report

Enhancement of heavy metals desorption from the soil by eddy deep leaching in hydrocyclone

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Journal of Environmental Sciences 2024年第1期135卷 242-251页

作者： Ning Wang Hao Lu Bo liu tai Xiong Jianping li Hualin Wang Qiang Yang School of Mechanical and Power Engineering East China University of Science and TechnologyShanghai 200237China National Engineering Laboratory for High Concentration Refractory Organic Wastewater Treatment Technology East China University of Science and TechnologyShanghai 200237China

An eddy deep leaching technology was developed in this paper to address the challenge of treating heavy metal contaminants in industrial mining areas.The desorption effect of As,Cd,Sb and Pb was investigated utilizing chemical leaching and physical eddy techniques.It was found that the heavy metals concentration increased with decreasing particle size.The highest proportion of Cd in the form distribution of soil was in the bound to iron and manganese oxides,while the maximum proportion of As,Sb and Pb were in the residual.The optimal solid-liquid ratio of the hydrocyclone was 1:20,and the corresponding separation efficiency and flow rate were 84.7%and 1.76 m^(3)/hr,respectively.The grade efficiency of soil particle separation increases with particle size and exceeds 99%for particles above 1,000μm.Leaching experiments have revealed that oxalic acid(OA)and a combination of oxalic acid and EDTA(OAPE)were more efficient than citric acid(CA)and a combination of citric acid and EDTA(CAPE)for the desorption of heavy metals,respectively.The comparison of OAPE and eddy leaching found that the latter improved the desorption efficiency by 9.4%,7.5%,7.2%and 7.8%for As,Cd,Sb and Pb compared to the former,respectively.The results demonstrated that the eddy leaching technique could further enhance the desorption efficiency of heavy metals.It is expected to provide technical support for soil remediation with reduced usage of leaching agents.

关键词： Heavy metals Soil remediation Oxalic acid Eddy leaching Hydrocyclone

Personalized assessment and training of neurosurgical skills in virtual reality:An interpretable machine learning approach

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虚拟现实与智能硬件（中英文） 2024年第1期6卷 17-29页

作者： Fei li Zhibao QIN Kai QIAN Shaojun liANG Chengli li Yonghang tai Yunnan Key Laboratory of Opto-electronic Information Technology Yunnan Normal UniversityKunming 650500China Department of Thoracic Surgery Institute of The First People’s Hospital of Yunnan ProvinceKunming 650500China Faculty of life and Biotechnology Kunming University of Science and TechnologyKunming 650031China

Background Virtual reality technology has been widely used in surgical simulators,providing new opportunities for assessing and training surgical skills.Machine learning algorithms are commonly used to analyze and evaluate the performance of participants.However,their interpretability limits the personalization of the training for individual participants.Methods Seventy-nine participants were recruited and divided into three groups based on their skill level in intracranial tumor resection.Data on the use of surgical tools were collected using a surgical simulator.Feature selection was performed using the Minimum Redundancy Maximum Relevance and SVM-RFE algorithms to obtain the final metrics for training the machine learning model.Five machine learning algorithms were trained to predict the skill level,and the support vector machine performed the best,with an accuracy of 92.41%and Area Under Curve value of 0.98253.The machine learning model was interpreted using Shapley values to identify the important factors contributing to the skill level of each participant.Results This study demonstrates the effectiveness of machine learning in differentiating the evaluation and training of virtual reality neurosurgical performances.The use of Shapley values enables targeted training by identifying deficiencies in individual skills.Conclusions This study provides insights into the use of machine learning for personalized training in virtual reality neurosurgery.The interpretability of the machine learning models enables the development of individualized training programs.In addition,this study highlighted the potential of explanatory models in training external skills.

关键词： Machine learning Neurosurgery Shapley values Virtual reality Human-robot interaction

Review on research and development of oxy-coal burner for carbon capture

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Science China(Technological Sciences) 2024年第3期67卷 647-672页

作者： GUO JunJun liU JingZhang ZHANG tai HU Fan li PengFei liU ZhaoHui ZHENG ChuGuang State Key Laboratory of Coal Combustion School of Energy and Power EngineeringHuazhong University of Science and Technology Wuhan 430074China CCRC King Abdullah University of Science and Technology(KAUST)Thuwal 23955-6900Kingdom of Saudi Arabia Institute of Engineering Thermophysics Chinese Academy of SciencesBeijing 100049China University of Chinese Academy of Sciences Beijing 100049China National Key Laboratory of High Efficiency and Low Carbon Utilization of Coal Beijing 100049China Institute of Energy Research Jiangxi Academy of SciencesNanchang 330096China Carbon Neutrality Research Center of Jiangxi Province Nanchang 330096China Faculty of Engineering China University of Geosciences(Wuhan)Wuhan 430074China National Energy Research and Development Center of Clean and Low Carbon Coal-based Power Generation Technologies Wuhan 430074China

In the past two decades, the oxy-fuel combustion of pulverized coal has been extensively developed, leading to the completion of several large industrial pilot oxy-fuel plants worldwide. Various types of oxy-fuel burners have been designed and tested in largescale pilot plants as key components of oxy-fuel combustion. These burners face major challenges in terms of their flame stability because of their decreasing stream momentum ratio and increasing carbon dioxide concentration. However, it offers flexibility in adjusting the oxygen concentration in each burner stream. This study aims to provide a comprehensive review of the state-of-the-art knowledge on oxy-coal burner design and operation in power plants. First, the combustion characteristics under oxy-fuel conditions are briefly introduced. Subsequently, the principal requirements and fundamental parameters of the oxy-coal burners are discussed. The development process of oxy-fuel burners is also presented. Moreover, a compatible design strategy and scaling-up techniques are described for oxy-coal burners developed by the authors over the past ten years. The performances of oxy-coal burners in three large pilot oxy-fuel plants worldwide are summarized and compared. Finally, concluding remarks are provided and potential research needs are suggested.

关键词： carbon capture oxy-fuel combustion oxy-fuel burner pulverized coal compatible design

Meibomian glands segmentation in infrared images with limited annotation

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International Journal of Ophthalmology(English edition) 2024年第3期17卷 401-407页

作者： Jia-Wen lin ling-Jie lin Feng Lu tai-Chen Lai Jing Zou lin-ling Guo Zhi-Ming lin li li College of Computer and Data Science Fuzhou UniversityFuzhou 350108Fujian ProvinceChina Fujian Provincial Key Laboratory of Networking Computing and Intelligent Information Processing Fuzhou UniversityFuzhou 350108Fujian ProvinceChina shengli Clinical Medical College of Fujian Medical University Fuzhou 350001Fujian ProvinceChina Department of Ophthalmology Fujian Provincial Hospital South BranchFujian Provincial HospitalFuzhou 350001Fujian ProvinceChina

●AIM:To investigate a pioneering framework for the segmentation of meibomian glands(MGs),using limited annotations to reduce the workload on ophthalmologists and enhance the efficiency of clinical diagnosis.●METHODS:Totally 203 infrared meibomian images from 138 patients with dry eye disease,accompanied by corresponding annotations,were gathered for the study.A rectified scribble-supervised gland segmentation(RSSGS)model,incorporating temporal ensemble prediction,uncertainty estimation,and a transformation equivariance constraint,was introduced to address constraints imposed by limited supervision information inherent in scribble annotations.The viability and efficacy of the proposed model were assessed based on accuracy,intersection over union(IoU),and dice coefficient.●RESULTS:Using manual labels as the gold standard,RSSGS demonstrated outcomes with an accuracy of 93.54%,a dice coefficient of 78.02%,and an IoU of 64.18%.Notably,these performance metrics exceed the current weakly supervised state-of-the-art methods by 0.76%,2.06%,and 2.69%,respectively.Furthermore,despite achieving a substantial 80%reduction in annotation costs,it only lags behind fully annotated methods by 0.72%,1.51%,and 2.04%.●CONCLUSION:An innovative automatic segmentation model is developed for MGs in infrared eyelid images,using scribble annotation for training.This model maintains an exceptionally high level of segmentation accuracy while substantially reducing training costs.It holds substantial utility for calculating clinical parameters,thereby greatly enhancing the diagnostic efficiency of ophthalmologists in evaluating meibomian gland dysfunction.

关键词： infrared meibomian glands images meibomian gland dysfunction meibomian glands segmentation weak supervision scribbled annotation

ZNF554 Inhibits Endometrial Cancer Progression via Regulating RBM5 and Inactivating WNT/β-Catenin Signaling Pathway

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Current Medical Science 2024年第2期44卷 406-418页

作者： Cheng-cheng ZHU Heng-liang SUN Teng-fei LONG Yuan-yuan LYU Jiang-li liU Guan-tai NI Anhui Medical University Hefei 230032China Department of Obstetrics and Gynecology The First Afiliated Hospital of Wannan Medical CollegeWuhu 241001China

Objective:Uterine corpus endometrial carcinoma(UCEC),a kind of gynecologic malignancy,poses a significant risk to women’s health.The precise mechanism underlying the development of UCEC remains elusive.Zinc finger protein 554(ZNF554),a member of the Krüppel-associated box domain zinc finger protein superfamily,was reported to be dysregulated in various illnesses,including malignant tumors.This study aimed to examine the involvement of ZNF554 in the development of UCEC.Methods:The expression of ZNF554 in UCEC tissues and cell lines were examined by qRT-PCR and Western blot assay.Cells with stably overexpressed or knocked-down ZNF554 were established through lentivirus infection.CCK-8,wound healing,and Transwell invasion assays were employed to assess cell proliferation,migration,and invasion.Propidium iodide(PI)staining combined with fluorescence-activated cell sorting(FACS)flow cytometer was utilized to detect cell cycle distribution.qRT-PCR and Western blotting were conducted to examine relative mRNA and protein levels.Chromatin immunoprecipitation assay and luciferase reporter assay were used to explore the regulatory role of ZNF554 in RNA binding motif 5(RBM5).Results:The expression of ZNF554 was found to be reduced in both UCEC samples and cell lines.Decreased expression of ZNF554 was associated with higher tumor stage,decreased overall survival,and reduced disease-free survival in UCEC.ZNF554 overexpression suppressed cell proliferation,migration,and invasion,while also inducing cell cycle arrest.In contrast,a decrease in ZNF554 expression resulted in the opposite effect.Mechanistically,ZNF554 transcriptionally regulated RBM5,leading to the deactivation of the Wingless(WNT)/β-catenin signaling pathway.Moreover,the findings from rescue studies demonstrated that the inhibition of RBM5 negated the impact of ZNF554 overexpression onβ-catenin and p-glycogen synthase kinase-3β(p-GSK-3β).Similarly,the deliberate activation of RBM5 reduced the increase inβ-catenin and p-GSK-3βcaused by the suppression of ZNF554.In v

关键词： zinc finger protein 554 endometrial carcinoma RNA binding motif 5 Wingless/β-catenin signaling pathway

Factors Associated with the Size of HIV DNA Reservoir

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Chinese Medical Journal 2017年第2期130卷 224-230页

作者： Ni-Dan Wang tai-sheng li Department of Infectious Diseases Peking Union Medical College Hospital Peking Union Medical College and Chinese Academy of Medical Sciences Beijing 100730 China

Objective： To review the recent literatures related to the factors associated with the size of the HIV reservoir and their clinical significance. Data Sources： literatures related to the size of HIV DNA was collected from PubMed published from 1999 to June 2016. Study Selection： All relevant articles on the HIV DNA and reservoir were collected and reviewed, with no limitation of study design. Results： The composition and development of the HIV- 1 DNA reservoir in either treated or untreated patients is determined by integrated mechanism comprising viral characteristics, immune system, and treatment strategies. The HIV DNA reservoir is a combination of latency and activity. The residual viremia from the stochastic activation of the reservoir acts as the fuse, continuing to stimulate the immune system to maintain the activated microenvironment for the rebound of competent virus once treatment with antiretroviral therapy is discontinued. Conclusion： The size of the HIV-1 DNA pool and its composition has great significance in clinical treatment and disease progression.

关键词： Antiretroviral Treatment HIV-I DNA Immune Activation, Latent Reservoir Residual Viremia

黄河流域农田土壤重金属污染特征及其优先控制源分析

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环境科学 2024年第3期45卷 1724-1738页

作者：李军李旭李开明焦亮台喜生臧飞曹素珍兰州城市学院城市环境学院兰州730070 西北师范大学甘肃省绿洲资源环境与可持续发展重点实验室兰州730070 兰州大学草地农业科技学院兰州730020

农田土壤环境质量评价与污染溯源解析是保障国家粮食安全和农业可持续发展的基础,也是扎实推进国家净土保卫战的重要前提.基于2000~2023年黄河流域农田土壤重金属(As、 Cd、 Cr、 Cu、 Hg、 Ni、 Pb和Zn)含量数据,采用地累积指数法对重... 详细信息

农田土壤环境质量评价与污染溯源解析是保障国家粮食安全和农业可持续发展的基础,也是扎实推进国家净土保卫战的重要前提.基于2000~2023年黄河流域农田土壤重金属(As、 Cd、 Cr、 Cu、 Hg、 Ni、 Pb和Zn)含量数据,采用地累积指数法对重金属污染特征进行评价,利用正定矩阵因子分解(PMF)模型定量解析重金属的来源贡献,并通过运用蒙特卡洛(Monte Carlo)模拟和人体健康风险评价模型相耦合的方法评价重金属污染的潜在健康风险,实现优先污染源和污染元素的确定.结果表明:(1)研究区农田土壤所有重金属的含量均值均低于《土壤环境质量农用地土壤污染风险管控标准》(GB 15618-2018)(pH>7.5)的筛选值,但分别有21.69%、 5.56%和1.23%的样点Cd、 As和Zn含量超出其筛选值,Cd超标率最高.(2)Hg和Cd为偏中度污染,Cu和Pb为轻度污染,其余元素均为无污染.(3)农田土壤重金属主要来源为交通-工业源、自然-农业源、工业-自然源和农业-工业源,贡献率分别为37.04%、 26.69%、 21.72%和14.55%.(4)农田土壤重金属对成人与儿童存在致癌健康风险,但不具有非致癌风险;As和Cd为人体健康风险优先控制元素,工业-自然源和农业-工业源为研究区优先控制源.

关键词：黄河流域 Monte Carlo模拟正定矩阵因子分解(PMF)模型源解析健康风险评价

Millisecond dynamics of colloidal suspension studied by X-ray photon correlation spectroscopy at the Shanghai Synchrotron Radiation Facility

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Nuclear Science and Techniques 2024年第1期35卷 1-9页

作者： Chen-Hui Cui Zi-Mu Zhou lin-Feng Wei Song-lin li Feng Tian Xiu-Hong li Zhi Guo Yi-Hui Xu Huai-Dong Jiang Ren-Zhong tai Shanghai Synchrotron Radiation Facility Shanghai Advanced Research InstituteChinese Academy of SciencesShanghai 201204China School of Physical Science and Technology ShanghaiTech UniversityShanghai 201210China Shanghai Institute of Applied Physics Chinese Academy of SciencesShanghai 201800China University of Chinese Academy of Sciences Chinese Academy of SciencesBeijing 100049China Center for Transformative Science ShanghaiTech UniversityShanghai 201210China

X-ray photon correlation spectroscopy(XPCS)has emerged as a powerful tool for probing the nanoscale dynamics of soft condensed matter and strongly correlated materials owing to its high spatial resolution and penetration capabilities.This technique requires high brilliance and beam coherence,which are not directly available at modern synchrotron beamlines in China.To facilitate future XPCS experiments,we modified the optical setup of the newly commissioned BL10U1 USAXS beamline at the Shanghai Synchrotron Radiation Facility(SSRF).Subsequently,we performed XPCS measurements on silica suspensions in glycerol,which were opaque owing to their high concentrations.Images were collected using a high frame rate area detector.A comprehensive analysis was performed,yielding correlation functions and several key dynamic parameters.All the results were consistent with the theory of Brownian motion and demonstrated the feasibility of XPCS at SSRF.Finally,by carefully optimizing the setup and analyzing the algorithms,we achieved a time resolution of 2 ms,which enabled the characterization of millisecond dynamics in opaque systems.

关键词： XPCS SSRF Silica suspension Glycerol Brownian motion Millisecond dynamics