1.Feasibility and exploration of optimal communication models for robot-assisted urological telesurgery: a multicenter, single-arm, retrospective study
Ye WANG ; Taoping SHI ; Sheng TAI ; Sunyi YE ; Yubai ZHANG ; Bingzhang QIAO ; Chenfeng WANG ; Gen CHENG ; Zhi LI ; Qing AI ; Qingbo HUANG ; Baojun WANG ; Qing YUAN ; Junnan XU ; Guojun LIU ; Yu CHEN ; Wuyi ZHAO ; Jianle MAO ; Shiwei LI ; Shuo WANG ; Dan XIA ; Wanhai XU ; Chaozhao LIANG ; Hongzhao LI ; Xin MA ; Xu ZHANG
Chinese Journal of Urology 2025;46(5):331-336
Objective:To evaluate the efficacy and feasibility of a domestically developed robotic surgical system based on fiber-optic dedicated line communication in cross-regional urological telesurgery.Methods:This was multicenter,single-arm,retrospective case series study. The data of patients who underwent urological telesurgeries using the telesurgical system between January 2023 and December 2024 were analyzed. The cohort included 59 patients from seven hospitals across China. Among the patients,47 were male(79.7%)and 12 were female(20.3%),with a median age of 63.0(56.0,68.0)years and a body mass index of(24.7 ± 3.0)kg/m 2. Surgical procedures included 32 radical prostatectomies,24 partial nephrectomies,one radical nephrectomy,one adrenalectomy,and one ureteral reconstruction. The perioperative indicators,pathological results and postoperative complications were analyzed. The network monitoring data were collected,and the perioperative data of patients,remote system monitoring data and costs were compared between the two communication modes of optical transport network(OTN)and cloud-connect network(CCN). Results:All 59 remote surgeries were successfully completed,with a mean operative time of(138.0 ± 54.0)minutes,median intraoperative blood loss of 50.0(30.0,100.0)ml and a postoperative hospital stay of 5.0(4.0,6.0)days. No cases required reoperation,Clavien-Dindo grade ≥3 complications,or readmission. The geographical distance between the primary and remote surgical sites ranged from 450 to 2 800 km. Network monitoring revealed increased bidirectional latency with distance increasing:the shortest latency time(Hefei-Hangzhou,450 km)was(16.59 ± 0.80)ms,while the longest(Harbin-Hangzhou,2 200 km)latency time was(53.31 ± 0.31)ms. Average frame loss per procedure was 0?1.27 frames. The results of subgroup analysis comparing OTN and CCN communication modes showed no significant differences in operative time[(130.7 ± 70.5)minutes vs.(142.1 ± 42.9)minutes, P = 0.442],postoperative hospitalization[6.0(4.0,8.0)d vs. 5.0(4.0,6.0)d, P = 0.581],or readmission rates(0 vs. 0). However,CCN demonstrated significant cost advantages with 500 RMB per operation vs. 3 000 RMB per operation for OTN. Conclusions:Urological telesurgery using fiber-optic communication is feasible. The CCN mode,with its cost-effectiveness,excellent usability,and multi-point interconnection flexibility,is currently the preferred communication model for telesurgical applications.
2.Alzheimer's disease diagnosis among dementia patients via blood biomarker measurement based on the AT(N) system.
Tianyi WANG ; Li SHANG ; Chenhui MAO ; Longze SHA ; Liling DONG ; Caiyan LIU ; Dan LEI ; Jie LI ; Jie WANG ; Xinying HUANG ; Shanshan CHU ; Wei JIN ; Zhaohui ZHU ; Huimin SUI ; Bo HOU ; Feng FENG ; Bin PENG ; Liying CUI ; Jianyong WANG ; Qi XU ; Jing GAO
Chinese Medical Journal 2025;138(12):1505-1507
3.Real-world characteristics and treatment patterns in Chinese patients with newly diagnosed endometrial cancer.
Aijun YIN ; Dong WANG ; Yanlin LUO ; Ruifang AN ; Shuzhong YAO ; Yufei SHEN ; Li SUN ; Cuirong LEI ; Yan TIAN ; Li WANG ; Dan ZHONG ; Manman XU ; Yuanyuan JIANG ; Min ZHANG ; Binqi ZHANG ; Huirong MAO ; Fengshi DONG ; Yu ZHANG ; Beihua KONG
Chinese Medical Journal 2025;138(13):1624-1626
4.National bloodstream infection bacterial resistance surveillance report 2023: Gram-positive bacteria
Chaoqun YING ; Jinru JI ; Zhiying LIU ; Qing YANG ; Haishen KONG ; Jiangqin SONG ; Hui DING ; Yanyan LI ; Yuanyuan DAI ; Haifeng MAO ; Pengpeng TIAN ; Lu WANG ; Yongyun LIU ; Yizheng ZHOU ; Jiliang WANG ; Yan JIN ; Donghong HUANG ; Hongyun XU ; Peng ZHANG ; Xinhua QIANG ; Hong HE ; Lin ZHENG ; Junmin CAO ; Zhou LIU ; Ying HUANG ; Yan GENG ; Haiquan KANG ; Dan LIU ; Guolin LIAO ; Lixia ZHANG ; Fenghong CHEN ; Yanhong LI ; Baohua ZHANG ; Haixin DONG ; Xiaoyan LI ; Donghua LIU ; Qiuying ZHANG ; Xuefei HU ; Liang GUO ; Sijin MAN ; Dijing SONG ; Rong XU ; Youdong YIN ; Kunpeng LIANG ; Aiyun LI ; Zhuo LI ; Hongxia HU ; Guoping LU ; Jinhua LIANG ; Qiang LIU ; Yinqiao DONG ; Jilu SHEN ; Shuyan HU ; Liang LUAN ; Jian LI ; Ling MENG ; Dengyan QIAO ; Xiusan XIA ; Bo QUAN ; Dahong WANG ; Chunhua HAN ; Xiaoping YAN ; Fei LI ; Shifu WANG ; Ping SHEN ; Yunbo CHEN ; Yonghong XIAO
Chinese Journal of Clinical Infectious Diseases 2025;18(2):118-132
Objective:To report the nationwide surveillance results of pathogenic profiles and antimicrobial resistance patterns of Gram-positive bloodstream infections in China in 2023.Methods:The clinical isolates of Gram-posttive bacteria from blood cultures were collected in member hospitals of National Bloodstream Infection Bacterial Resistant Investigation Collaborative System(BRICS)during January to December 2023. Antimicrobial susceptibility testing was performed using the dilution method recommended by the Clinical and Laboratory Standards Institute(CLSI). Statistical analyses were conducted using WHONET 5.6 and SPSS 25.0 software.Results:A total of 4 385 Gram-positive bacterial isolates were obtained from 60 participating center. The top five pathogens were Staphylococcus aureus( n=1 544,35.2%),coagulase-negative Staphylococci( n=1 441,32.9%), Enterococcus faecium( n=574,13.1%), Enterococcus faecalis( n=385,8.8%),and α-hemolytic Streptococci( n=187,4.3%). The prevalence of methicillin-resistant Staphylococcus aureus(MRSA)and methicillin-resistant coagulase-negative Staphylococci(MRCNS)was 26.2%(405/1 544)and 69.8%(1 006/1 441),respectively. Notably,all Staphylococci remained susceptible to glycopeptide or daptomycin. Staphylococcus aureus demonstrated excellent susceptibility(>97.0%)to cephalobiol,rifampicin,trimethoprim-sulfamethoxazole,linezolid,minocycline,tigecycline,and eravacycline. No Enterococcus exhibiting resistance to linezolid were detected. Glycopeptide resistance was uncommon but more frequent in Enterococcus faecium(resistance to vancomycin and teicoplanin:both 1.7%)compared to Enterococcus faecalis(both 0.3%). The detection rates of MRSA and MRCNS exhibited significant regional variations across the country( χ2=17.674 and 148.650,respectively,both P<0.001). No vancomycin-resistant Enterococci were detected in central China. Institutional comparison demonstrated higher prevalence of MRSA( χ2=14.111, P<0.001)and MRCNS( χ2=4.828, P=0.028)in provincial hospitals than that in municipal hospitals. Socioeconomic analysis identified elevated detection rates of both MRSA( χ2=18.986, P<0.001)and MRCNS( χ2=4.477, P=0.034)in less developed regions(per capita GDP
5.National bloodstream infection bacterial resistance surveillance report (2023) : Gram-negative bacteria
Jinru JI ; Zhiying LIU ; Chaoqun YING ; Qing YANG ; Haishen KONG ; Jiangqin SONG ; Hui DING ; Yanyan LI ; Yuanyuan DAI ; Haifeng MAO ; Pengpeng TIAN ; Lu WANG ; Yongyun LIU ; Yizheng ZHOU ; Jiliang WANG ; Yan JIN ; Donghong HUANG ; Hongyun XU ; Peng ZHANG ; Xinhua QIANG ; Hong HE ; Lin ZHENG ; Junmin CAO ; Zhou LIU ; Ying HUANG ; Yan GENG ; Haiquan KANG ; Dan LIU ; Guolin LIAO ; Lixia ZHANG ; Fenghong CHEN ; Yanhong LI ; Baohua ZHANG ; Haixin DONG ; Xiaoyan LI ; Donghua LIU ; Qiuying ZHANG ; Xuefei HU ; Liang GUO ; Sijin MAN ; Dijing SONG ; Rong XU ; Youdong YIN ; Kunpeng LIANG ; Aiyun LI ; Zhuo LI ; Hongxia HU ; Guoping LU ; Jinhua LIANG ; Qiang LIU ; Yinqiao DONG ; Jilu SHEN ; Shuyan HU ; Liang LUAN ; Jian LI ; Ling MENG ; Dengyan QIAO ; Xiusan XIA ; Bo QUAN ; Dahong WANG ; Chunhua HAN ; Xiaoping YAN ; Fei LI ; Shifu WANG ; Ping SHEN ; Yunbo CHEN ; Yonghong XIAO
Chinese Journal of Clinical Infectious Diseases 2025;18(1):47-62
Objective:To report the results of bacterial resistant investigation collaborative system(BRICS)on the distribution and antimicrobial resistance profile of clinical Gram-negative bacteria isolates from bloodstream infections in China in 2023,and provide reference for clinical tretment of bloodstream infections and prevention and control of bacterial resistance.Methods:The clinical isolates of Gram-negative bacteria from blood cultures in member hospitals of BRICS were collected during January 2023 to December 2023. Antibiotic susceptibility tests were conducted by agar dilution or broth dilution methods recommended by Clinical and Laboratory Standards Institute(CLSI). WHONET 5.6 and SPSS 25.0 were used to analyze the data.Results:During the study period,11 492 strains of Gram-negative bacteria were collected from 60 hospitals,of which 10 098(87.9%)were Enterobacterales and 1 394(12.1%)were non-fermentative bacteria. The top 5 bacterial species were Escherichia coli(50.0%), Klebsiella pneumoniae(26.1%), Pseudomonas aeruginosa(5.1%), Acinetobacter baumannii complex(5.0%)and Enterobacter cloacae complex(4.1%). The ESBL-producing rates in Escherichia coli, Klebsiella pneumoniae and Proteus mirablilis were 46.8%(2 685/5 741),18.3%(549/2 999)and 44.0%(77/175),respectively. The prevalence of carbapenem-resistant Escherichia coli(CREC)and carbapenem-resistant Klebsiella pneumoniae(CRKP)were 1.3%(76/5 741)and 15.0%(450/2 999);32.9%(25/76)and 78.0%(351/450)of CREC and CRKP were sensitive to ceftazidime/avibactam combination,respectively. 94.7%(72/76)and 90.2%(406/450)of CREC and CRKP were sensitive to aztreonam/avibactam combination. Furthermore,57.9%(44/76)and 79.1%(356/450)were sensitive to imipenem/relebactam combination. The prevalence of carbapenem-resistant Acinetobacter baumannii(CRAB)complex was 64.6%(370/573),while more than 80.0% of CRAB complex was sensitive to tigecycline,eravacycline and polymyxin B. The prevalence of carbapenem-resistant Pseudomonas aeruginosa(CRPA)was 17.0%(99/581). There were differences in the composition ratio of Gram-negative bacteria in bloodstream infections and the prevalence of important Gram-negative bacteria resistance among different regions in China,with statistically significant differences in the prevalence of CREC,CRKP,CRPA and CRAB complex( χ2=10.6,28.6,10.8 and 19.3, P<0.05). The prevalence of ESBL-producing Escherichia coli, CREC,CRAB complex and CRKP were higher in provincial hospitals than those in municipal hospitals( χ2=12.5,9.8,12.7 and 57.8,all P<0.01). Conclusions:Gram-negative bacteria are the main pathogens causing bloodstream infections in China,and Escherichia coli is ranked in the top,while the trend of Klebsiella pneumoniae increases continuously with time. CRKP infection shows a slow upward trend,CREC infecton maintains a low prevalence level,and CRAB complex infection continues to exhibit a high prevalence rate. The composition and resistance patterns of pathogens causing bloodstream infections vary to some extent across different regions and levels of hospitals in China.
6.Feasibility and exploration of optimal communication models for robot-assisted urological telesurgery: a multicenter, single-arm, retrospective study
Ye WANG ; Taoping SHI ; Sheng TAI ; Sunyi YE ; Yubai ZHANG ; Bingzhang QIAO ; Chenfeng WANG ; Gen CHENG ; Zhi LI ; Qing AI ; Qingbo HUANG ; Baojun WANG ; Qing YUAN ; Junnan XU ; Guojun LIU ; Yu CHEN ; Wuyi ZHAO ; Jianle MAO ; Shiwei LI ; Shuo WANG ; Dan XIA ; Wanhai XU ; Chaozhao LIANG ; Hongzhao LI ; Xin MA ; Xu ZHANG
Chinese Journal of Urology 2025;46(5):331-336
Objective:To evaluate the efficacy and feasibility of a domestically developed robotic surgical system based on fiber-optic dedicated line communication in cross-regional urological telesurgery.Methods:This was multicenter,single-arm,retrospective case series study. The data of patients who underwent urological telesurgeries using the telesurgical system between January 2023 and December 2024 were analyzed. The cohort included 59 patients from seven hospitals across China. Among the patients,47 were male(79.7%)and 12 were female(20.3%),with a median age of 63.0(56.0,68.0)years and a body mass index of(24.7 ± 3.0)kg/m 2. Surgical procedures included 32 radical prostatectomies,24 partial nephrectomies,one radical nephrectomy,one adrenalectomy,and one ureteral reconstruction. The perioperative indicators,pathological results and postoperative complications were analyzed. The network monitoring data were collected,and the perioperative data of patients,remote system monitoring data and costs were compared between the two communication modes of optical transport network(OTN)and cloud-connect network(CCN). Results:All 59 remote surgeries were successfully completed,with a mean operative time of(138.0 ± 54.0)minutes,median intraoperative blood loss of 50.0(30.0,100.0)ml and a postoperative hospital stay of 5.0(4.0,6.0)days. No cases required reoperation,Clavien-Dindo grade ≥3 complications,or readmission. The geographical distance between the primary and remote surgical sites ranged from 450 to 2 800 km. Network monitoring revealed increased bidirectional latency with distance increasing:the shortest latency time(Hefei-Hangzhou,450 km)was(16.59 ± 0.80)ms,while the longest(Harbin-Hangzhou,2 200 km)latency time was(53.31 ± 0.31)ms. Average frame loss per procedure was 0?1.27 frames. The results of subgroup analysis comparing OTN and CCN communication modes showed no significant differences in operative time[(130.7 ± 70.5)minutes vs.(142.1 ± 42.9)minutes, P = 0.442],postoperative hospitalization[6.0(4.0,8.0)d vs. 5.0(4.0,6.0)d, P = 0.581],or readmission rates(0 vs. 0). However,CCN demonstrated significant cost advantages with 500 RMB per operation vs. 3 000 RMB per operation for OTN. Conclusions:Urological telesurgery using fiber-optic communication is feasible. The CCN mode,with its cost-effectiveness,excellent usability,and multi-point interconnection flexibility,is currently the preferred communication model for telesurgical applications.
7.National bloodstream infection bacterial resistance surveillance report 2023: Gram-positive bacteria
Chaoqun YING ; Jinru JI ; Zhiying LIU ; Qing YANG ; Haishen KONG ; Jiangqin SONG ; Hui DING ; Yanyan LI ; Yuanyuan DAI ; Haifeng MAO ; Pengpeng TIAN ; Lu WANG ; Yongyun LIU ; Yizheng ZHOU ; Jiliang WANG ; Yan JIN ; Donghong HUANG ; Hongyun XU ; Peng ZHANG ; Xinhua QIANG ; Hong HE ; Lin ZHENG ; Junmin CAO ; Zhou LIU ; Ying HUANG ; Yan GENG ; Haiquan KANG ; Dan LIU ; Guolin LIAO ; Lixia ZHANG ; Fenghong CHEN ; Yanhong LI ; Baohua ZHANG ; Haixin DONG ; Xiaoyan LI ; Donghua LIU ; Qiuying ZHANG ; Xuefei HU ; Liang GUO ; Sijin MAN ; Dijing SONG ; Rong XU ; Youdong YIN ; Kunpeng LIANG ; Aiyun LI ; Zhuo LI ; Hongxia HU ; Guoping LU ; Jinhua LIANG ; Qiang LIU ; Yinqiao DONG ; Jilu SHEN ; Shuyan HU ; Liang LUAN ; Jian LI ; Ling MENG ; Dengyan QIAO ; Xiusan XIA ; Bo QUAN ; Dahong WANG ; Chunhua HAN ; Xiaoping YAN ; Fei LI ; Shifu WANG ; Ping SHEN ; Yunbo CHEN ; Yonghong XIAO
Chinese Journal of Clinical Infectious Diseases 2025;18(2):118-132
Objective:To report the nationwide surveillance results of pathogenic profiles and antimicrobial resistance patterns of Gram-positive bloodstream infections in China in 2023.Methods:The clinical isolates of Gram-posttive bacteria from blood cultures were collected in member hospitals of National Bloodstream Infection Bacterial Resistant Investigation Collaborative System(BRICS)during January to December 2023. Antimicrobial susceptibility testing was performed using the dilution method recommended by the Clinical and Laboratory Standards Institute(CLSI). Statistical analyses were conducted using WHONET 5.6 and SPSS 25.0 software.Results:A total of 4 385 Gram-positive bacterial isolates were obtained from 60 participating center. The top five pathogens were Staphylococcus aureus( n=1 544,35.2%),coagulase-negative Staphylococci( n=1 441,32.9%), Enterococcus faecium( n=574,13.1%), Enterococcus faecalis( n=385,8.8%),and α-hemolytic Streptococci( n=187,4.3%). The prevalence of methicillin-resistant Staphylococcus aureus(MRSA)and methicillin-resistant coagulase-negative Staphylococci(MRCNS)was 26.2%(405/1 544)and 69.8%(1 006/1 441),respectively. Notably,all Staphylococci remained susceptible to glycopeptide or daptomycin. Staphylococcus aureus demonstrated excellent susceptibility(>97.0%)to cephalobiol,rifampicin,trimethoprim-sulfamethoxazole,linezolid,minocycline,tigecycline,and eravacycline. No Enterococcus exhibiting resistance to linezolid were detected. Glycopeptide resistance was uncommon but more frequent in Enterococcus faecium(resistance to vancomycin and teicoplanin:both 1.7%)compared to Enterococcus faecalis(both 0.3%). The detection rates of MRSA and MRCNS exhibited significant regional variations across the country( χ2=17.674 and 148.650,respectively,both P<0.001). No vancomycin-resistant Enterococci were detected in central China. Institutional comparison demonstrated higher prevalence of MRSA( χ2=14.111, P<0.001)and MRCNS( χ2=4.828, P=0.028)in provincial hospitals than that in municipal hospitals. Socioeconomic analysis identified elevated detection rates of both MRSA( χ2=18.986, P<0.001)and MRCNS( χ2=4.477, P=0.034)in less developed regions(per capita GDP
8.National bloodstream infection bacterial resistance surveillance report (2023) : Gram-negative bacteria
Jinru JI ; Zhiying LIU ; Chaoqun YING ; Qing YANG ; Haishen KONG ; Jiangqin SONG ; Hui DING ; Yanyan LI ; Yuanyuan DAI ; Haifeng MAO ; Pengpeng TIAN ; Lu WANG ; Yongyun LIU ; Yizheng ZHOU ; Jiliang WANG ; Yan JIN ; Donghong HUANG ; Hongyun XU ; Peng ZHANG ; Xinhua QIANG ; Hong HE ; Lin ZHENG ; Junmin CAO ; Zhou LIU ; Ying HUANG ; Yan GENG ; Haiquan KANG ; Dan LIU ; Guolin LIAO ; Lixia ZHANG ; Fenghong CHEN ; Yanhong LI ; Baohua ZHANG ; Haixin DONG ; Xiaoyan LI ; Donghua LIU ; Qiuying ZHANG ; Xuefei HU ; Liang GUO ; Sijin MAN ; Dijing SONG ; Rong XU ; Youdong YIN ; Kunpeng LIANG ; Aiyun LI ; Zhuo LI ; Hongxia HU ; Guoping LU ; Jinhua LIANG ; Qiang LIU ; Yinqiao DONG ; Jilu SHEN ; Shuyan HU ; Liang LUAN ; Jian LI ; Ling MENG ; Dengyan QIAO ; Xiusan XIA ; Bo QUAN ; Dahong WANG ; Chunhua HAN ; Xiaoping YAN ; Fei LI ; Shifu WANG ; Ping SHEN ; Yunbo CHEN ; Yonghong XIAO
Chinese Journal of Clinical Infectious Diseases 2025;18(1):47-62
Objective:To report the results of bacterial resistant investigation collaborative system(BRICS)on the distribution and antimicrobial resistance profile of clinical Gram-negative bacteria isolates from bloodstream infections in China in 2023,and provide reference for clinical tretment of bloodstream infections and prevention and control of bacterial resistance.Methods:The clinical isolates of Gram-negative bacteria from blood cultures in member hospitals of BRICS were collected during January 2023 to December 2023. Antibiotic susceptibility tests were conducted by agar dilution or broth dilution methods recommended by Clinical and Laboratory Standards Institute(CLSI). WHONET 5.6 and SPSS 25.0 were used to analyze the data.Results:During the study period,11 492 strains of Gram-negative bacteria were collected from 60 hospitals,of which 10 098(87.9%)were Enterobacterales and 1 394(12.1%)were non-fermentative bacteria. The top 5 bacterial species were Escherichia coli(50.0%), Klebsiella pneumoniae(26.1%), Pseudomonas aeruginosa(5.1%), Acinetobacter baumannii complex(5.0%)and Enterobacter cloacae complex(4.1%). The ESBL-producing rates in Escherichia coli, Klebsiella pneumoniae and Proteus mirablilis were 46.8%(2 685/5 741),18.3%(549/2 999)and 44.0%(77/175),respectively. The prevalence of carbapenem-resistant Escherichia coli(CREC)and carbapenem-resistant Klebsiella pneumoniae(CRKP)were 1.3%(76/5 741)and 15.0%(450/2 999);32.9%(25/76)and 78.0%(351/450)of CREC and CRKP were sensitive to ceftazidime/avibactam combination,respectively. 94.7%(72/76)and 90.2%(406/450)of CREC and CRKP were sensitive to aztreonam/avibactam combination. Furthermore,57.9%(44/76)and 79.1%(356/450)were sensitive to imipenem/relebactam combination. The prevalence of carbapenem-resistant Acinetobacter baumannii(CRAB)complex was 64.6%(370/573),while more than 80.0% of CRAB complex was sensitive to tigecycline,eravacycline and polymyxin B. The prevalence of carbapenem-resistant Pseudomonas aeruginosa(CRPA)was 17.0%(99/581). There were differences in the composition ratio of Gram-negative bacteria in bloodstream infections and the prevalence of important Gram-negative bacteria resistance among different regions in China,with statistically significant differences in the prevalence of CREC,CRKP,CRPA and CRAB complex( χ2=10.6,28.6,10.8 and 19.3, P<0.05). The prevalence of ESBL-producing Escherichia coli, CREC,CRAB complex and CRKP were higher in provincial hospitals than those in municipal hospitals( χ2=12.5,9.8,12.7 and 57.8,all P<0.01). Conclusions:Gram-negative bacteria are the main pathogens causing bloodstream infections in China,and Escherichia coli is ranked in the top,while the trend of Klebsiella pneumoniae increases continuously with time. CRKP infection shows a slow upward trend,CREC infecton maintains a low prevalence level,and CRAB complex infection continues to exhibit a high prevalence rate. The composition and resistance patterns of pathogens causing bloodstream infections vary to some extent across different regions and levels of hospitals in China.
9.Analysis of CEP290 gene variants and clinical phenotypes in a family with Leber congenital amaurosis type 10
Haitao ZHANG ; Ziqian ZHU ; Handong DAN ; Yingying XU ; Hanchao GUO ; Lu SHI ; Liangwei MAO
Chinese Journal of Ocular Fundus Diseases 2024;40(4):273-280
Objective:To identify and observe disease-causing gene variants and clinical phenotypes in a Han Chinese family with Leber congenital amaurosis (LCA).Methods:A retrospective study. A patient with LCA10 and his parents who had presented at Department of Ophthalmology of Henan Provincial People's Hospital on May 2022 were selected as the study subject. Detailed medical and family histories were recorded, fundus photography and flash electroretinogram (F-ERG) were performed. Peripheral venous blood samples (3 ml) of the proband and his parents were collected to extract whole genomic DNA, then whole exome sequencing (WES) and mitochondrial DNA (mtDNA) sequencing were carried out for the proband to determine the disease-causing gene and variants. All variants were annotated by bioinformatics analysis. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, the pathogenicity of all detected variants were evaluated. Candidate variants were verified by Sanger sequencing, and in vitro minigene assay were performed to evaluate the impact of the missense variant with insufficient evidence on mRNA splicing.Results:The proband, male, 7-month-old, presented with an inability to follow light or objects, eye poking, photophobia, nystagmus, partial loss of retinal pigment epithelium around the fovea of the macula. At the age of 2 years old, F-ERG revealed severe reduction, elongation, or even no waveform of a-wave and b-wave in both eyes. No obvious abnormality was found in the clinical phenotype of his parents. The result of WES revealed that the proband carried two variants in exon 40 and exon 2 of CEP290, a frameshift variant c.5515_5518del (p.Glu1839Lysfs*11) (V1) and a novel missense variant c.74C>T (p.Ala25Val) (V2), respectively. The result of mitochondrial DNA sequencing was negative. Sanger sequencing confirmed that the heterozygous frameshift variant was inherited from his father and the heterozygous novel missense variant was inherited from his mother, which constituted compound heterozygous variants. In vitro minigene splicing assay confirmed that V2 created a new splicing donor at exon 2, leading to the in-frame deletion of 30bp fragment during transcription and loss of 10 amino acid residues in the protein. The two variants were pathogenic (V1) and likely pathogenic (V2) based on ACMG guidelines, respectively. Conclusions:The c.5515_5518del and novel c.74C>T compound heterozygous variants of the CEP290 gene probably are the cause of LCA10 in this family, which lead to the production of a truncated protein and aberrant splicing of pre-mRNA, respectively. LCA is characterized by early onset, severe impairment of visual function, and a wide range of disease-causing variations.
10.Visualization Analysis of Research on the TCM Regulation of Cellular Autophagy
Dan LONG ; Chenhan MAO ; Yaxuan LIU ; Junjun ZOU ; Yin XU ; Ying ZHU
Chinese Journal of Information on Traditional Chinese Medicine 2024;31(7):50-56
Objective To explore the current status,hotspots and trends of research on the TCM regulation of cellular autophagy;To provide reference for related research.Methods The literature related to the TCM regulation of cellular autophagy was retrieved from CNKI,Wanfang Data,VIP and CBM from the establishment of the databases to December 31,2022.Authors and institutional collaboration networks were drawn using CiteSpace 5.7.R5.keywords emergence analysis and timeline view were drawn.VOSviewer 1.6.18 software was used to draw keyword co-occurrence mapping.Results A total of 2 001 articles were included,with a general upward trend in the number of publications.The cooperation teams were mainly represented by Jia Lianqun,Yang Guanlin,Song Nan and others.Research institutions with more publications included Hunan University of Chinese Medicine,Liaoning University of Chinese Medicine,and Guangzhou University of Chinese Medicine.The keywords of the literature formed 9 meaningful clusters,showing that the research hotspots in this field mainly focused on apoptosis,mitochondrial autophagy,experimental studies,signaling pathways,and herbal monomers,etc.TCM interventions that attracted much attention included electroacupuncture,moxibustion,resveratrol,curcumin,etc,mainly involving PI3K/Akt,AMPK/mTOR and other signaling pathways.Conclusion The research on cellular autophagy in the field of TCM has been highly popular in recent years.Experimental studies,molecular mechanisms,related diseases,and TCM intervention are the research hotspots in this field.The research trend is dominated by TCM monomer,TCM theory research and other directions,mainly focusing on apoptosis,oxidative stress and other pathways to carry out extensive research.

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