先天性眼外肌纤维化(congenital fibrosis of extraocular muscles,CFEOM)综合征是一种具有遗传倾向的先天性眼外肌功能障碍性疾病,患者典型表现为先天性非进展性眼外肌麻痹、限制性眼球固定及上睑下垂,发病率为1/23万~1/25万。本文报...先天性眼外肌纤维化(congenital fibrosis of extraocular muscles,CFEOM)综合征是一种具有遗传倾向的先天性眼外肌功能障碍性疾病,患者典型表现为先天性非进展性眼外肌麻痹、限制性眼球固定及上睑下垂,发病率为1/23万~1/25万。本文报告中南大学湘雅二医院收治的1个CFEOM 3型家系,先证者为10岁女性患儿,临床表现为右眼向内偏斜合并右眼上睑下垂。全外显子组测序发现患者在TUBB3基因上发生c.904G>A杂合突变。对家系中其他成员检测的结果提示患者母亲也携带相同突变,表现为左眼眼睑下垂。先后予患儿斜视矫正手术、上睑下垂矫正手术,术后症状得到明显改善。对于出现先天性眼外肌运动障碍及上睑下垂的患者,应高度重视遗传学检测在确诊及家系分析中的价值;同时,个体化的手术干预可显著改善患者的功能及外观。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:青光眼是一种多因素相关的视神经病变,致盲率高,其发病机制复杂,目前尚未明确。高眼压是目前唯一可调控的、与青光眼的发病密切相关的危险因素。本研究通过运用环角膜缘缝合与小梁网联合巩膜静脉激光光凝2种不同的方法建立慢性高...目的:青光眼是一种多因素相关的视神经病变,致盲率高,其发病机制复杂,目前尚未明确。高眼压是目前唯一可调控的、与青光眼的发病密切相关的危险因素。本研究通过运用环角膜缘缝合与小梁网联合巩膜静脉激光光凝2种不同的方法建立慢性高眼压大鼠模型,比较2种模型的眼压升高程度和高眼压持续时间,视网膜形态损伤和视网膜神经节细胞(retinal ganglion cells,RGCs)损伤程度,以及超微结构改变等。方法:建立2种慢性高眼压模型,分为环角膜缘缝合组(缝合组,用10/0尼龙线沿角巩膜缘缝合)和激光光凝组(激光组,激光灼烧小梁网联合巩膜外静脉),并以其对侧眼作为对照组。观察并定期规律监测2组大鼠的眼压变化。采用大鼠视网膜切片HE染色观察2种慢性高眼压模型对视网膜和视神经病理学的影响,透射电镜(transmission electron microscope,TEM)观察慢性高眼压模型超微结构中线粒体形态的变化,大鼠视网膜铺片Brn3b抗体免疫荧光染色特异性标记RGCs并计数,蛋白质印迹法检测凋亡相关蛋白caspase-3的表达以明确RGCs的凋亡情况。结果:与对照组相比,缝合组与激光组大鼠眼压均明显升高(均P<0.05),其中缝合组的眼压最高升高1.5倍,眼压显著升高持续8周;激光组的眼压最高达对照组的2倍,持续12周。2组都会导致RGCs丢失,与Brn3b染色的结果相符,2组caspase-3表达水平均升高(均P<0.05)。而在TEM下,2组RGCs中的线粒体形态均变为碎片化,从正常的长条形变小、变圆。与激光组相比,缝合组视网膜形态学的病理变化较轻微。结论:环角膜缘缝合可建立有效的慢性高眼压模型,诱导与激光光凝模型相似的青光眼性病理改变,但病理改变较激光光凝轻微。相较于激光光凝建模,环角膜缘缝合法对于设备要求和操作能力要求更低。展开更多
Objective:Long noncoding RNAs(lncRNA)play important roles in the pathological processes of angiogenesis-related diseases such as cancer and diabetic retinopathy.This study aims to identify global research trends and h...Objective:Long noncoding RNAs(lncRNA)play important roles in the pathological processes of angiogenesis-related diseases such as cancer and diabetic retinopathy.This study aims to identify global research trends and hotspots in the field of lncRNAs in angiogenesis-related diseases and to explore future research directions.Methods:Relevant literature published between 2012 and 2022 was retrieved from the Web of Science Core Collection(WoSCC).A total of 1516 articles on lncRNAs and angiogenesis-related diseases were included for bibliometric analysis.CiteSpace and VOSviewer were used to analyze publication countries,institutions,journals,authors,co cited references,and key words.Results:The number of publications in this field has shown a steadily increasing trend from 2012 to 2022,peaking in 2021.China has the highest number of publications,while the United States ranked highest in centrality.Nanjing Medical University was the most prolific institution.Liu Y was the most productive author,while Wang Y ranked first in co citation frequency.Cell was the most frequently cited journal.The latest terms of burst key words were vascular remodeling,dysfunction,heart,target,suppress,and pulmonary arterial hypertension.Conclusion:From 2012 to 2022,research on lncRNAs in angiogenesis-related diseases has grown significantly.China leads in publication volume,while the United States holds the most academic influence.Emerging research hotspots such as vascular remodeling and dysfunction point to key directions for future research.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 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.
基金supported by the National Natural Science Foundation(81700838)the Natural Science Foundation of Hunan Province(2020JJ4789)the Scientific Research Project of Health Commission of Hunan Province(202307027224),China.
文摘目的:青光眼是一种多因素相关的视神经病变,致盲率高,其发病机制复杂,目前尚未明确。高眼压是目前唯一可调控的、与青光眼的发病密切相关的危险因素。本研究通过运用环角膜缘缝合与小梁网联合巩膜静脉激光光凝2种不同的方法建立慢性高眼压大鼠模型,比较2种模型的眼压升高程度和高眼压持续时间,视网膜形态损伤和视网膜神经节细胞(retinal ganglion cells,RGCs)损伤程度,以及超微结构改变等。方法:建立2种慢性高眼压模型,分为环角膜缘缝合组(缝合组,用10/0尼龙线沿角巩膜缘缝合)和激光光凝组(激光组,激光灼烧小梁网联合巩膜外静脉),并以其对侧眼作为对照组。观察并定期规律监测2组大鼠的眼压变化。采用大鼠视网膜切片HE染色观察2种慢性高眼压模型对视网膜和视神经病理学的影响,透射电镜(transmission electron microscope,TEM)观察慢性高眼压模型超微结构中线粒体形态的变化,大鼠视网膜铺片Brn3b抗体免疫荧光染色特异性标记RGCs并计数,蛋白质印迹法检测凋亡相关蛋白caspase-3的表达以明确RGCs的凋亡情况。结果:与对照组相比,缝合组与激光组大鼠眼压均明显升高(均P<0.05),其中缝合组的眼压最高升高1.5倍,眼压显著升高持续8周;激光组的眼压最高达对照组的2倍,持续12周。2组都会导致RGCs丢失,与Brn3b染色的结果相符,2组caspase-3表达水平均升高(均P<0.05)。而在TEM下,2组RGCs中的线粒体形态均变为碎片化,从正常的长条形变小、变圆。与激光组相比,缝合组视网膜形态学的病理变化较轻微。结论:环角膜缘缝合可建立有效的慢性高眼压模型,诱导与激光光凝模型相似的青光眼性病理改变,但病理改变较激光光凝轻微。相较于激光光凝建模,环角膜缘缝合法对于设备要求和操作能力要求更低。
基金supported by the Natural Science Foundation of Hunan Province,China(2022JJ30869).
文摘Objective:Long noncoding RNAs(lncRNA)play important roles in the pathological processes of angiogenesis-related diseases such as cancer and diabetic retinopathy.This study aims to identify global research trends and hotspots in the field of lncRNAs in angiogenesis-related diseases and to explore future research directions.Methods:Relevant literature published between 2012 and 2022 was retrieved from the Web of Science Core Collection(WoSCC).A total of 1516 articles on lncRNAs and angiogenesis-related diseases were included for bibliometric analysis.CiteSpace and VOSviewer were used to analyze publication countries,institutions,journals,authors,co cited references,and key words.Results:The number of publications in this field has shown a steadily increasing trend from 2012 to 2022,peaking in 2021.China has the highest number of publications,while the United States ranked highest in centrality.Nanjing Medical University was the most prolific institution.Liu Y was the most productive author,while Wang Y ranked first in co citation frequency.Cell was the most frequently cited journal.The latest terms of burst key words were vascular remodeling,dysfunction,heart,target,suppress,and pulmonary arterial hypertension.Conclusion:From 2012 to 2022,research on lncRNAs in angiogenesis-related diseases has grown significantly.China leads in publication volume,while the United States holds the most academic influence.Emerging research hotspots such as vascular remodeling and dysfunction point to key directions for future research.
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。
