Objective:Keratoconus(KC)is a progressive corneal ectasia disorder,arising from a myriad of causes including genetic predispositions,environmental factors,biomechanical influences,and inflammatory reactions.This study...Objective:Keratoconus(KC)is a progressive corneal ectasia disorder,arising from a myriad of causes including genetic predispositions,environmental factors,biomechanical influences,and inflammatory reactions.This study aims to identify potential pathogenetic gene mutations in patients with sporadic KC in the Han Chinese population.Methods:Twenty-five patients with primary KC as well as 50 unrelated population matched healthy controls,were included in this study to identify potential pathogenic gene mutations among sporadic KC patients in the Han Chinese population.Sanger sequencing and whole-exome sequencing(WES)were used to analyze mutations in the zinc finger protein 469(ZNF469)gene.Bioinformatics analysis was conducted to explore the potential role of ZNF469 in KC pathogenesis.Results:Five novel heterozygous missense variants were identified in KC patients.Among them,2 compound heterozygous variants,c.8986G>C(p.E2996Q)with c.11765A>C(p.D3922A),and c.4423C>G(p.L1475V)with c.10633G>A(p.G3545R),were determined to be possible pathogenic factors for KC.Conclusion:Mutations in the ZNF469 gene may contribute to the development of KC in the Han Chinese population.These mutation sites may provide valuable information for future genetic screening of KC patients and their families.展开更多
Objective:Near vision loss(NVL)is one of the leading causes of visual impairment worldwide,exerting a profound impact on individual quality of life and socio-economic development.This study aims to analyze the burden ...Objective:Near vision loss(NVL)is one of the leading causes of visual impairment worldwide,exerting a profound impact on individual quality of life and socio-economic development.This study aims to analyze the burden of NVL in China by sex and age groups from 1990 to 2021 and to project trends over the next 15 years.Methods:Using data from the Global Burden of Disease(GBD)2021 database,we conducted descriptive analyses of NVL prevalence in China,calculated age-standardized prevalence rates(ASPR)and age-standardized disability-adjusted life years rates(ASDR)to compare burden differences between sexes and age groups,and applied an autoregressive integrated moving average(ARIMA)model to predict NVL trends for the next 15 years.The model selection was based on best-fit criteria to ensure reliable projections.Results:From 1990 to 2021,China’s ASPR of NVL rose from 10096.24/100000 to 15624.54/100000,and ASDR increased from 101.75/100000 to 158.75/100000.In 2021,ASPR(16551.70/100000)and ASDR(167.69/100000)were higher among females than males(14686.21/100000 and 149.76/100000,respectively).China ranked highest globally in both NVL cases and disability-adjusted life years(DALYs),with female burden significantly exceeding male burden.Projections indicated this trend and sex gap will persist until 2036.Compared with 1990,the prevalence cases and DALYs increased by 239.20%and 238.82%,respectively in 2021,with the highest burden among females and the 55−59 age group.The ARIMA model predicted continued increases in prevalence and DALYs by 2036,with females maintaining a higher burden than males.Conclusion:This study reveals a marked increase in the NVL burden in China and predicts continued growth in the coming years.Public health policies should prioritize NVL prevention and control,with special attention to women and middle-aged populations to mitigate long-term societal and health impacts.展开更多
目的:中国角膜移植供体缺口巨大,可通过角膜成分移植来扩大供体角膜来源。本研究旨在通过观察采用不同储存介质保存的血清乙型肝炎表面抗原(hepatitis B surface antigen,HBsAg)阳性捐献者角膜中HBsAg的表达和分布,以评估板层角膜移植...目的:中国角膜移植供体缺口巨大,可通过角膜成分移植来扩大供体角膜来源。本研究旨在通过观察采用不同储存介质保存的血清乙型肝炎表面抗原(hepatitis B surface antigen,HBsAg)阳性捐献者角膜中HBsAg的表达和分布,以评估板层角膜移植的可行性和安全性。方法:本研究的研究对象为2019年12月至2021年3月间临床捐献的保存在中南大学湘雅三医院眼库的10枚角膜(来自6例捐献者)。采用酶联免疫吸附分析的方法检测血清HBsAg的表达,聚合酶链反应(polymerase chain reaction,PCR)法检测血清HBsAg阳性捐献者血中乙型肝炎病毒(hepatitis B virus,HBV)DNA滴度,免疫荧光染色检测角膜中的HBsAg的表达及其在角膜各层的定位,对血中HBV DNA滴度和角膜中HBsAg荧光强度进行相关性分析。结果:4枚来自2例血清HBsAg阳性捐献者的角膜、1枚来自1例血清HBsAg阴性捐献者的角膜均短期(<2周)保存在中期保存液中,2枚来自1例血清HBsAg阳性捐献者的角膜和2枚来自1例血清HBsAg阳性捐献者的角膜分别在甘油中保存1个月和1年,1枚来自1例血清HBsAg阴性捐献者的角膜在甘油中保存1年。免疫荧光染色结果显示:采用中期保存液短期(<2周)保存的2枚角膜上皮层和1枚角膜内皮层、甘油保存1年的1枚角膜上皮细胞均可见HBsAg阳性信号。免疫荧光染色半定量分析结果显示:角膜上皮层和内皮层中HBsAg荧光强度差异有统计学意义(P=0.012),不同捐献者及保存方法的角膜上皮中HBsAg荧光强度的差异无统计学意义(P>0.05)。血中HBV DNA滴度与角膜上皮中的HBsAg阳性表达呈正相关(R^(2)=0.707,P=0.036)。结论:HBsAg血清阳性捐献者的供体角膜存放于中期保存液或在甘油中长期保存后,上皮层或内皮层仍有HBsAg的阳性表达,但角膜基质层中均无HBsAg的阳性表达。血中HBV DNA滴度高表达的捐献者,其角膜中HBsAg表达阳性的可能性越高。本研究为进一步研究HBsAg阳性供体角膜用于板层角膜移植的可能性奠定了基础。展开更多
目的:年龄相关性黄斑变性(age-related macular degeneration,AMD)是WHO认定的三大重点防盲眼病之一,是老年人视力不可逆性损伤的主要原因。本研究旨在通过分析全球疾病负担(global burden of disease,GBD)2019数据库的中国AMD数据,探讨...目的:年龄相关性黄斑变性(age-related macular degeneration,AMD)是WHO认定的三大重点防盲眼病之一,是老年人视力不可逆性损伤的主要原因。本研究旨在通过分析全球疾病负担(global burden of disease,GBD)2019数据库的中国AMD数据,探讨AMD流行病学负担,为中国AMD防控提供理论依据。方法:检索GBD 2019数据库AMD的患病数/率、伤残调整寿命年(disability-adjusted life year,DALYs)、DALY率及中国和全球的社会人口学指数(socio-demographic index,SDI),并统计中国1990年至2019年AMD流行趋势及年龄、时期、性别趋势,研究AMD患病率与SDI之间的关系。结果:2019年中国AMD患病率位于全球高水平,患病人数为1990年的1.93倍,患病率及DALY率均持续上升;中国AMD患病人数年龄趋势呈中间高、两头低形态,且女性高于男性。随着SDI值的增加,AMD的发病率呈线性上升趋势。结论:通过分析GBD数据库,1990年至2019年间中国AMD疾病负担显著上升,居全球前列,且与社会发展程度呈正相关。积极研究AMD流行病学资料及与社会发展水平的关系,对于AMD诊治、卫生政策制定具有重要意义。展开更多
基金supported by the National Natural Science Foundation(82271057)the Natural Science Foundation of Hunan Province(2023JJ30818),China。
文摘Objective:Keratoconus(KC)is a progressive corneal ectasia disorder,arising from a myriad of causes including genetic predispositions,environmental factors,biomechanical influences,and inflammatory reactions.This study aims to identify potential pathogenetic gene mutations in patients with sporadic KC in the Han Chinese population.Methods:Twenty-five patients with primary KC as well as 50 unrelated population matched healthy controls,were included in this study to identify potential pathogenic gene mutations among sporadic KC patients in the Han Chinese population.Sanger sequencing and whole-exome sequencing(WES)were used to analyze mutations in the zinc finger protein 469(ZNF469)gene.Bioinformatics analysis was conducted to explore the potential role of ZNF469 in KC pathogenesis.Results:Five novel heterozygous missense variants were identified in KC patients.Among them,2 compound heterozygous variants,c.8986G>C(p.E2996Q)with c.11765A>C(p.D3922A),and c.4423C>G(p.L1475V)with c.10633G>A(p.G3545R),were determined to be possible pathogenic factors for KC.Conclusion:Mutations in the ZNF469 gene may contribute to the development of KC in the Han Chinese population.These mutation sites may provide valuable information for future genetic screening of KC patients and their families.
基金supported by the Natural Science Foundation of Hunan Province(2023JJ30817)Hunan Provincial Natural Science Foundation-Hengyang City Joint Fund Project(2025JJ70129)+1 种基金Changsha Natural Science Foundation(kq2403057)China。
文摘Objective:Near vision loss(NVL)is one of the leading causes of visual impairment worldwide,exerting a profound impact on individual quality of life and socio-economic development.This study aims to analyze the burden of NVL in China by sex and age groups from 1990 to 2021 and to project trends over the next 15 years.Methods:Using data from the Global Burden of Disease(GBD)2021 database,we conducted descriptive analyses of NVL prevalence in China,calculated age-standardized prevalence rates(ASPR)and age-standardized disability-adjusted life years rates(ASDR)to compare burden differences between sexes and age groups,and applied an autoregressive integrated moving average(ARIMA)model to predict NVL trends for the next 15 years.The model selection was based on best-fit criteria to ensure reliable projections.Results:From 1990 to 2021,China’s ASPR of NVL rose from 10096.24/100000 to 15624.54/100000,and ASDR increased from 101.75/100000 to 158.75/100000.In 2021,ASPR(16551.70/100000)and ASDR(167.69/100000)were higher among females than males(14686.21/100000 and 149.76/100000,respectively).China ranked highest globally in both NVL cases and disability-adjusted life years(DALYs),with female burden significantly exceeding male burden.Projections indicated this trend and sex gap will persist until 2036.Compared with 1990,the prevalence cases and DALYs increased by 239.20%and 238.82%,respectively in 2021,with the highest burden among females and the 55−59 age group.The ARIMA model predicted continued increases in prevalence and DALYs by 2036,with females maintaining a higher burden than males.Conclusion:This study reveals a marked increase in the NVL burden in China and predicts continued growth in the coming years.Public health policies should prioritize NVL prevention and control,with special attention to women and middle-aged populations to mitigate long-term societal and health impacts.
文摘目的:Graves眼病是一种复杂的器官特异性自身免疫性疾病,发病机制尚不明确。补体系统中的核心成分5/5a(component 5/5a,C5/C5a)可能在该疾病的病理过程中发挥重要作用。本研究旨在利用孟德尔随机化(Mendelian randomization,MR)方法探究C5/C5a与Graves眼病的因果关系,以期为Graves眼病的诊断与治疗提供新的理论依据。方法:基于全基因组关联分析(genome-wide association study,GWAS)的汇总数据,以补体C5/C5a作为暴露因素,Graves眼病作为结局因素,分析补体C5/C5a与Graves眼病的因果关系,利用共定位分析得出假设的后验概率(posterior probability of hypothesis,PPH),进一步验证补体C5与Graves眼病的遗传关联。结果:Wald比率法模型显示补体C5与Graves眼病呈显著正相关(OR=4.109,95%CI 1.990~8.486,P<0.001),逆方差加权法(inverse variance weighted,IVW)模型显示C5a与Graves眼病同样呈正相关(OR=2.901,95%CI 1.225~6.869,P=0.015),共定位分析显示补体C5与Graves眼病在给定的遗传窗口内共享同一个单核苷酸多态性(single nucleotide polymorphism,SNP)rs7036980,PPH4为0.81(>0.80为概率高)。结论:补体C5/C5a的高水平显著增加Graves眼病的发生风险,通过靶向补体C5的抑制剂可以有效降低Graves眼病的发生风险。
文摘目的:年龄相关性黄斑变性(age-related macular degeneration,AMD)是WHO认定的三大重点防盲眼病之一,是老年人视力不可逆性损伤的主要原因。本研究旨在通过分析全球疾病负担(global burden of disease,GBD)2019数据库的中国AMD数据,探讨AMD流行病学负担,为中国AMD防控提供理论依据。方法:检索GBD 2019数据库AMD的患病数/率、伤残调整寿命年(disability-adjusted life year,DALYs)、DALY率及中国和全球的社会人口学指数(socio-demographic index,SDI),并统计中国1990年至2019年AMD流行趋势及年龄、时期、性别趋势,研究AMD患病率与SDI之间的关系。结果:2019年中国AMD患病率位于全球高水平,患病人数为1990年的1.93倍,患病率及DALY率均持续上升;中国AMD患病人数年龄趋势呈中间高、两头低形态,且女性高于男性。随着SDI值的增加,AMD的发病率呈线性上升趋势。结论:通过分析GBD数据库,1990年至2019年间中国AMD疾病负担显著上升,居全球前列,且与社会发展程度呈正相关。积极研究AMD流行病学资料及与社会发展水平的关系,对于AMD诊治、卫生政策制定具有重要意义。
