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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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Impact of National Immunization Strategies on Vaccine- Preventable Diseases — China, 1950–2021

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China CDC weekly 2024年第16期6卷 339-343页

作者： Quanwei Song Yixing Li lei Cao Lixin hao Ning Wen Fuzhen Wang Chao Ma Guomin Zhang Hui Zheng Wenzhou Yu Zhijie An Zundong Yin Huaqing Wang National Key Laboratory of Intelligent Tracking and Forecasting for Infectious Diseases(NITFID) BeijingChina National Immunization Program Chinese Center for Disease Control and PreventionBeijingChina

What is already known about this topic?The incidences of vaccine-preventable diseases(VPDs)included in the Expanded Program on Immunization in China have decreased significantly in recent *** is added by this report?This study summarizes the national incidences of nine VPDs and the seroprevalence of hepatitis B surface antigen(HBsAg)under different immunization strategies from 1950 through 2021 in *** sharpest decreases in VPD incidence and under-5-year HBsAg seroprevalence occurred during the latest stage of the National Immunization *** decreases in VPD incidence were most prominent among children under five years of *** are the implications for public health practice?These findings provide valuable insights for vaccine value assessment and emphasize the importance of implementing immunization strategies in targeted populations.

关键词： vaccine diseases Impact

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Severe pediatric COVID‑19:a review from the clinical and immunopathophysiological perspectives

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World Journal of Pediatrics 2024年第4期20卷 307-324页

作者： Yi‑Kan Sun Can Wang Pei‑Quan Lin lei Hu Jing Ye Zhi‑Gang Gao Ru Lin hao‑Min Li Qiang Shu Li‑Su Huang Lin‑Hua Tan Children's Hospital Zhejiang University School of MedicineHangzhou 310052China The Second Affiliated Hospital Zhejiang University School of MedicineHangzhou 310030China Surgical Intensive Care Unit Children’s HospitalZhejiang University School of MedicineHangzhou 310052China Department of General Surgery Children’s HospitalZhejiang University School of MedicineHangzhou 310052China Department of Cardiopulmonary and Extracorporeal Life Support Children’s HospitalZhejiang University School of MedicineHangzhou 310052China Clinical Data Center Children’s HospitalZhejiang University School of MedicineHangzhou 310052China Department of Cardiac Surgery Children’s HospitalZhejiang University School of MedicineHangzhou 310052China National Clinical Research Center for Child Health Children’s HospitalZhejiang University School of MedicineHangzhou 310052China Department of Infectious Diseases Children’s HospitalZhejiang University School of MedicineHangzhou 310052China

Background Coronavirus disease 2019(COVID-19)tends to have mild presentations in ***,severe and critical cases do arise in the pediatric population with debilitating systemic impacts and can be fatal at times,meriting further attention from ***,the intricate interactions between the pathogen virulence factors and host defense mechanisms are believed to play indispensable roles in severe COVID-19 pathophysiology but remain incompletely *** sources A comprehensive literature review was conducted for pertinent publications by reviewers independently using the PubMed,Embase,and Wanfang *** keywords included“COVID-19 in children”,“severe pediatric COVID-19”,and“critical illness in children with COVID-19”.Results Risks of developing severe COVID-19 in children escalate with increasing numbers of co-morbidities and an unvaccinated *** respiratory distress stress and necrotizing pneumonia are prominent pulmonary manifestations,while various forms of cardiovascular and neurological involvement may also be *** immunological processes are implicated in the host response to COVID-19 including the type I interferon and inflammasome pathways,whose dysregulation in severe and critical diseases translates into adverse clinical *** inflammatory syndrome in children(MIS-C),a potentially life-threatening immune-mediated condition chronologically associated with COVID-19 exposure,denotes another scientific and clinical conundrum that exemplifies the complexity of pediatric *** the considerable dissimilarities between the pediatric and adult immune systems,clinical trials dedicated to children are lacking and current management recommendations are largely adapted from adult *** Severe pediatric COVID-19 can affect multiple organ *** dysregulated immune pathways in severe COVID-19 shape the disease course,epitomize the vast functional diversity of the

关键词： Immunopathophysiology MIS-C Pediatric critical care Severe pediatric COVID-19

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Screening for metastasis-related genes in mouse melanoma cells through sequential tail vein injection

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Biophysics Reports 2024年第1期10卷 15-21页

作者： Qinggang hao Rui Dong Weiyu Bai Dong Chang Xinyi Yao Yingru Zhang Huangying Xu Huiyan Li Xiang Kui Feng Wang Yan Wang Chengqin Wang Yujie lei Yan Chen Junling Shen lei Sang Yan Bai Jianwei Sun Center for Life Sciences Yunnan Key Laboratory of Cell Metabolism and Diseases State Key Laboratory for Conservation and Utilization of Bio-Resources in Yunnan School of Life Sciences Yunnan University Key Laboratory of Tumor Immunological Prevention and Treatment of Yunnan Province Yan'an Hospital Affiliated to Kunming Medical University Shandong Provincial Key Laboratory of Animal Resistance Biology Collaborative Innovation Center of Cell Biology in Universities of Shandong Center for Cell Structure and Function Institute of Biomedical Science College of Life Sciences Shandong Normal University Department of Pathology The Second Affiliated Hospital of Kunming Medical University State Key Laboratory of Bioactive Molecules and Druggability Assessment Institute of Genomic Medicine College of Pharmacy Jinan University Department of Pathology School of Basic Medicine Qingdao University Department of Thoracic Surgery Yunnan Cancer Hospital & The Third Affiliated Hospital of Kunming Medical University & Yunnan Cancer Center

Tumor metastasis, responsible for approximately 90% of cancer-associated mortality, remains poorly understood. Here in this study, we employed a melanoma lung metastasis model to screen for metastasis-related genes. By sequential tail vein injection of mouse melanoma B16F10 cells and the subsequently derived cells from lung metastasis into BALB/c mice, we successfully obtained highly metastatic B16F15 cells after five rounds of in vivo screening. RNA-sequencing analysis of B16F15 and B16F10 cells revealed a number of differentially expressed genes, some of these genes have previously been associated with tumor metastasis while others are novel discoveries. The identification of these metastasis-related genes not only improves our understanding of the metastasis mechanisms, but also provides potential diagnostic biomarkers and therapeutic targets for metastatic melanoma.

关键词： Melanoma Lung metastasis model Gene screening Tail vein injection

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Dietary yeast extract prevents alcoholic liver disease in mice via correcting gut dysbiosis and improving intestinal barrier function

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Food Science and Human Wellness 2024年

作者： hao Han lei Tian Yajing Dong Yanyang Han Xiaoman Wang Qian Cheng Haibo Zhang Yan Zhang Department of Nutrition and Food Hygiene， School of Public Health， Shanxi Medical University Hubei Provincial Key Laboratory of Yeast Function Research Center of Nutrition and Health Food Yichang School of Health Science and Engineering， Shanghai Engineering Research Center of Food Microbiology， University of Shanghai for Science and Technology

Alcoholic liver disease (ALD) is one of the major global public health problems. Yeast extract (YE)， a product prepared from yeast， has been proven to have antioxidant and anti-inflammatory properties. However， the potential role of YE in the prevention of ALD remains unclear. The present study aimed to investigate the protective effects of YE on ALD and explore the underlying mechanism based on gut microbiota. The result showed that YE supplementation significantly ameliorated chronic alcohol exposure-induced liver injury in mice. In addition， YE counteracted alcohol-induced gut dysbiosis， intestinal barrier dysfunction， lipopolysaccharide (LPS) leakage-induced inflammatory response in the liver. Moreover， microbiota depletion by a broad-spectrum antibiotic was sufficient to block the protective effect of YE on ALD， indicating the contribution of gut dysbiosis modulation to the hepatoprotective role of YE. Furthermore， we demonstrated the causal relationship between gut microbiota and hepatoprotective effects of YE with the fecal microbiota transplantation (FMT) experiment. Compared with the ALD-FMT mice， gut dysbiosis， intestinal barrier dysfunction， LPS/TLR4 signaling pathway activation， and liver inflammatory response were significantly improved in the YE-FMT mice. Together， our findings highlight that dietary YE protects against ALD through gut dysbiosis correction.

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Research status and hotspots of tight junctions and colorectal cancer:A bibliometric and visualization analysis

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World Journal of Gastrointestinal Oncology 2024年第8期16卷 3705-3715页

作者： Hui-Min Li Yin Liu Meng-Di hao Xiao-Qing Liang Da-Jin Yuan Wen-Bin Huang Wen-Jie Li lei Ding Department of Gastrointestinal Oncology Surgery Beijing Shijitan HospitalCapital Medical UniversityBeijing 100038China

BACKGROUND Colorectal cancer(CRC)is the third most common cancer worldwide and the second leading cause of cancer-related *** the past two decades,numerous researchers have provided important evidence regarding the role of tight junction(TJ)proteins in the occurrence and progression of *** causal relationship between the presence of specific TJ proteins and the development of CRC has also been *** the large number of publications in this field,a bibliometric study to review the current state of research and highlight the research trends and hotspots in this field has not yet been *** To analyze research on TJs and CRC,summarize the field’s history and current status,and predict future research *** We searched the Science Citation Index Expanded database for all literature on CRC and TJs from *** used bibliometrics to analyze the data of these papers,such as the authors,countries,institutions,and ***-authorship,co-citation,and co-occurrence analyses were the main methods of *** and VOSviewer were used to visualize the *** A total of 205 studies were ultimately *** number of publications on this topic has steadily increased since *** and the United States have made the largest contributions to this *** Research was the most prolific journal,publishing 8 articles,while the journal Oncogene had the highest average citation rate(68.33).Professor Dhawan P was the most prolific and cited author in this ***-occurrence analysis of keywords revealed that“tight junction protein expression”,“colorectal cancer”,“intestinal microbiota”,and“inflammatory bowel disease”had the highest frequency of occurrence,revealing the research hotspots and trends in this *** This bibliometric analysis evaluated the scope and trends of TJ proteins in CRC,providing valuable research perspectives and future directions for studying the connection between th

关键词： Colorectal cancer Tight junctions Bibliometric analysis Research trends Hot spots

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“Hepatic hilum area priority,liver posterior first”:An optimized strategy in laparoscopic resection for type Ⅲ-Ⅳ hilar cholangiocarcinoma

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World Journal of Gastrointestinal Surgery 2024年第7期16卷 2167-2174页

作者： Xiao-Si Hu Yong Wang Hong-Tao Pan Chao Zhu Shi-lei Chen Shuai Zhou Hui-Chun Liu Qing Pang hao Jin Department of Hepatopancreatobiliary Surgery Anhui No.2 Provincial People's HospitalHefei 230041Anhui ProvinceChina

BACKGROUND In recent years,pure laparoscopic radical surgery for Bismuth-Corlette type Ⅲ and Ⅳ hilar cholangiocarcinoma(HCCA)has been preliminarily explored and applied,but the surgical strategy and safety are still worthy of further improvement and *** To summarize and share the application experience of the emerging strategy of“hepatic hilum area dissection priority,liver posterior separation first”in pure laparoscopic radical resection for patients with HCCA of Bismuth-Corlette types Ⅲ and *** The clinical data and surgical videos of 6 patients with HCCA of Bismuth-Corlette types Ⅲ and Ⅳ who underwent pure laparoscopic radical resection in our department from December 2021 to December 2023 were retrospectively *** Among the 6 patients,4 were males and 2 were *** average age was 62.2±11.0 years,and the median body mass index was 20.7(19.2-24.1)kg/m^(2).The preoperative median total bilirubin was 57.7(16.0-155.7)μmol/*** patient had Bismuth-Corlette type Ⅲa,4 patients had Bismuth-Corlette type Ⅲb,and 1 patient had Bismuth-Corlette type Ⅳ.All patients successfully underwent pure laparoscopic radical resection following the strategy of“hepatic hilum area dissection priority,liver posterior separation first”.The operation time was 358.3±85.0 minutes,and the intraoperative blood loss volume was 195.0±108.4 *** of the patients received blood transfusions during the perioperative *** median length of stay was 8.3(7.0-10.0)*** bile leakage occurred in 2 patients,and all patients were discharged without serious surgery-related *** The emerging strategy of“hepatic hilum area dissection priority,liver posterior separation first”is safe and feasible in pure laparoscopic radical surgery for patients with HCCA of Bismuth-Corlette types Ⅲ and Ⅳ.This strategy is helpful for promoting the modularization and process of pure laparoscopic radical surgery for complicated HCCA,shortens the learning curve,and

关键词： Hilar cholangiocarcinoma Bismuth-Corlette typesⅢandⅣ Laparoscopy Radical resection Strategy

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Measurement of the neutron-induced total cross sections of ^(nat)Pb from 0.3 eV to 20 MeV on the Back-n at CSNS

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Nuclear Science and Techniques 2024年第2期35卷 85-93页

作者： Jie-Ming Xue Song Feng Yong-hao Chen Han Yi Min Xiao Pin-Jing Cheng Xin-Xiang Li Rong Liu Yi-Wei Yang Zi-Jie Han Da-Jun Zhao hao-Qiang Wang Bao-Qian Li Ji-Rong Zhao lei-Xun Tang Wen Luo Bo Zheng School of Nuclear Science and Technology University of South ChinaHengyang 421001China Institute of High Energy Physics Chinese Academy of Sciences(CAS)Beijing 100049China Spallation Neutron Source Science Center Dongguan 523803China Institute of Nuclear Physics and Chemistry China Academy of Engineering PhysicsMianyang 621900China

The neutron-induced total cross sections of natural lead have been measured in a wide energy range(0.3 eV-20 MeV)on the back-streaming white neutron beamline(Back-n)at the China Spallation Neutron *** energy was determined by the neutron total cross-section spectrometer using the time-of-flight technique.A fast multi-cell fission chamber was used as the neutron detector,and a 10-mm-thick high-purity natural lead sample was employed for the neutron transmission *** on-beam background was determined using Co,In,Ag,and Cd *** excitation function of ^(nat)Pb(n,tot)reaction below 20 MeV was calculated using the TALYS-1.96 nuclear-reaction modeling *** present results were compared with previous results,the evaluated data available in the five major evaluated nuclear data libraries(i.e.,ENDF/B-VIII.0,JEFF-3.3,JENDL-5,CENDL-3.2,and BROND-3.1),and the theoretical calculation *** agreement was found between the new results and those of previous experiments and with the theoretical curves in the corresponding *** measurement obtained the neutron total cross section of natural lead with good accuracy over a wide energy range and added experimental data in the resonance energy *** provides more reliable experimental data for nuclear engineering design and nuclear data evaluation of lead.

关键词： Neutron-induced total cross section Natural lead Time-of-flight TALYS-1.96 CSNS Back-n white neutron beamline

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Synergetic optimization operation method for distribution network based on SOP and PV

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Global Energy Interconnection 2024年第2期7卷 130-141页

作者： lei Chen Ning Zhang Xingfang Yang Wei Pei Zhenxing Zhao Yinan Zhu hao Xiao State Grid Shijiazhuang Electric Power Company Shijiazhuang 130100P.R.China Institute of Electrical Engineering Chinese Academy of SciencesBeijing 100190P.R.China IEEE Power and Energy Society New YorkUSA

The integration of distributed generation brings in new challenges for the operation of distribution networks,including out-of-limit voltage and power flow *** open points(SOP)are new power electronic devices that can flexibly control active and reactive power *** the exception of active power output,photovoltaic(PV)devices can provide reactive power compensation through an ***,a synergetic optimization operation method for SOP and PV in a distribution network is proposed.A synergetic optimization model was *** voltage deviation,network loss,and ratio of photovoltaic abandonment were selected as the objective *** PV model was improved by considering the three reactive power output modes of the PV *** the load fluctuation and loss of the SOP were *** multi-objective optimization algorithms were used,and a compromise optimal solution was *** studies were conducted using an IEEE 33-node *** simulation results indicated that the SOP and PVs complemented each other in terms of active power transmission and reactive power *** optimization improves power control capability and flexibility,providing better power quality and PV consumption rate.

关键词： Synergetic optimization Soft open point(SOP) Photovoltaic(PV) Distribution network

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Deep learning-based recognition of stained tongue coating images

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Digital Chinese Medicine 2024年第2期7卷 129-136页

作者： ZHONG Liqin XIN Guojiang PENG Qinghua CUI Ji ZHU lei LIANG hao Institute of Traditional Chinese Medicine Diagnostics Hunan University of Chinese MedicineChangshaHunan 410208China Hunan Provincial Key Laboratory of Diagnostic Research in Chinese Medicine Hunan University of Chinese MedicineChangshaHunan 410208China School of Information Science and Engineering Hunan University of Chinese MedicineChangshaHunan 410208China School of Basic Medicine Shanghai University of Traditional Chinese MedicineShanghai 201203China

Objective To build a dataset encompassing a large number of stained tongue coating images and process it using deep learning to automatically recognize stained tongue coating *** A total of 1001 images of stained tongue coating from healthy students at Hunan University of Chinese Medicine and 1007 images of pathological(non-stained)tongue coat-ing from hospitalized patients at The First Hospital of Hunan University of Chinese Medicine withlungcancer;diabetes;***-zed into the training;validation;and testing datasets in a 7:2:1 ratio.A deep learning model was constructed using the ResNet50 for recognizing stained tongue coating in the training and validation *** training period was 90 *** model’s performance was evaluated by its accuracy;loss curve;recall;F1 score;confusion matrix;receiver operating characteristic(ROC)curve;and precision-recall(PR)curve in the tasks of predicting stained tongue coating images in the testing *** accuracy of the deep learning model was compared with that of attending physicians of traditional Chinese medicine(TCM).Results The training results showed that after 90 epochs;the model presented an excellent classification *** loss curve and accuracy were stable;showing no signs of *** model achieved an accuracy;recall;and F1 score of 92%;91%;and 92%;*** confusion matrix revealed an accuracy of 92%for the model and 69%for TCM *** areas under the ROC and PR curves were 0.97 and 0.95;*** The deep learning model constructed using ResNet50 can effectively recognize stained coating images with greater accuracy than visual inspection of TCM *** model has the potential to assist doctors in identifying false tongue coating and prevent-ing misdiagnosis.

关键词： Deep learning Tongue coating Stained coating Image recognition Traditional Chinese medicine(TCM) Intelligent diagnosis

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