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浅谈自制内障症主方在内障眼病中的应用
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作者 李江玲 张凤梅 《中国民族民间医药》 2012年第2期44-44,共1页
探析自制内障症主方在治疗内障眼病中的运用情况。列举了其治疗闭角性青光眼、玻璃体混浊、中心性浆液性脉络膜视网膜病变、视网膜色素变性、视神经萎缩的适应证型及随证加减。为临床治疗内障眼病提供有效的、可供借鉴的治疗经验。
关键词 自制内障症主方 张望之 内障眼病
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遗传性高铁蛋白血症-白内障综合征 被引量:2
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作者 高举 袁粒星 廖清奎 《国外医学(输血及血液学分册)》 CAS 2002年第2期157-159,共3页
遗传性高铁蛋白血症-白内障综合征是一种少见的遗传性铁代谢疾病,属常染色体显性遗传,是由于铁蛋白轻链基因5’-非翻译区的铁效应元件的突变所致。临床特点为血清铁蛋白水平显著增高和双侧先天性白内障,但无铁负荷增加的实验室指标,以... 遗传性高铁蛋白血症-白内障综合征是一种少见的遗传性铁代谢疾病,属常染色体显性遗传,是由于铁蛋白轻链基因5’-非翻译区的铁效应元件的突变所致。临床特点为血清铁蛋白水平显著增高和双侧先天性白内障,但无铁负荷增加的实验室指标,以及无炎症和或肿瘤存在的证据。本文对遗传性高铁蛋白血症-白内障综合征的分子遗传发病机制、与铁稳态调控的关系及其临床特点作一综述。 展开更多
关键词 遗传性高铁蛋白血-白内障综合征 铁蛋白 铁调节蛋白 铁代谢疾病 鉴别诊断
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CLN1型神经元蜡样脂褐质沉积症伴遗传性高铁蛋白血症-白内障综合征1例患儿的分析
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作者 周凡 王建东 +4 位作者 王瑶 李海英 苏宇 魏永威 王怀立 《中华医学遗传学杂志》 CSCD 2024年第1期75-80,共6页
目的分析1例神经元蜡样脂褐质沉积症1型(CLN1)合并遗传性高铁蛋白血症-白内障综合征(HHCS)患儿的临床及遗传学特征。方法以2020年11月郑州大学第一附属医院收治的1例患儿作为研究对象。收集患儿的临床资料,对其进行基因检测,并结合文献... 目的分析1例神经元蜡样脂褐质沉积症1型(CLN1)合并遗传性高铁蛋白血症-白内障综合征(HHCS)患儿的临床及遗传学特征。方法以2020年11月郑州大学第一附属医院收治的1例患儿作为研究对象。收集患儿的临床资料,对其进行基因检测,并结合文献回顾分析其临床和遗传变异的特点,为早期识别提供思路。结果患儿男,3岁,以视力损害、进行性认知和运动功能倒退、癫痫发作为主要表现。磁共振成像提示双侧大脑半球脑沟加深、髓鞘发育明显落后。棕榈酰蛋白硫酯酶活力偏低(8.4 nmol/g/min,正常参考值:132.2~301.4 nmol/g/min),血清铁蛋白升高(2417.70 ng/mL,正常参考值:30~400 ng/mL)。眼底成像示视网膜色素变性。全外显子测序发现患儿PPT1基因存在c.280A>C及c.124-124+3delG复杂杂合突变,分别遗传自父亲和母亲,二者既往均未见报道。此外,其FTL基因存在c.-160A>G杂合变异,遗传自父亲。结合患儿的临床表型和遗传变异,诊断其为CLN1和HHCS。结论PPT1基因的c.280A>C和c.124-124+3delG复合杂合变异及FTL基因的c.-160A>C变异可能是患儿的遗传学病因。临床对于视力损害进展较快的CLN1患儿,应进一步完善眼科检查并详细询问家族史,对高度怀疑合并HHCS的患儿应尽早通过基因检测确诊。 展开更多
关键词 神经元蜡样脂褐质沉积 PPT1基因 高铁蛋白血内障综合征 FTL基因
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Research progress on the correlation between aqueous humor components and pathogenesis and postoperative complications in patients with different types of cataracts
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作者 Liang Chen Yan Hong 《国际眼科杂志》 CAS 2024年第11期1681-1694,共14页
Aqueous humor provides the necessary nutrition for the lens and transports the metabolites in the eye.It was a liquid that can directly reflect the microenvironment in the eye'and it can be easily obtained during ... Aqueous humor provides the necessary nutrition for the lens and transports the metabolites in the eye.It was a liquid that can directly reflect the microenvironment in the eye'and it can be easily obtained during the operation.This review intended to analyze the components of aqueous humor in patients with different types of cataracts'so as to reflect the pathogenesis and development of the disease'evaluate the incidence of postoperative complications and provide reference value for the surgical design of sequential cataract surgery.The aqueous humor components of different types of cataracts showed different degrees of inflammation'oxidative stress and extracellular matrix remodeling.The biomarker of early neuropathy in diabetic cataract was neural cell adhesion molecule-1(NCAM1).Transforming growth factor-β(TGF-β)was the evaluation factor of disease development in patients with pseudoexfoliation syndrome.The relationships between postoperative complications of different types of cataracts and aqueous humor components were as follows:Macular edema after diabetic cataract surgery was associated with tumor necrosis factor-alpha;capsular contraction after high myopic cataract surgery was related to monocyte chemoattractant protein-1(MCP-1)and TGF-β2;Klotho and glutathione S-transferase P 1(GSTP1)were associated with high intraocular pressure after primary open-angle glaucoma complicated by cataract surgery;capsular contraction after retinitis pigmentosa complicated by cataract surgery was associated with matrix metalloproteinases;pro-inflammatory cytokines and fibroblast growth factor 4 in the aqueous humor of congenital cataracts were associated with posterior capsular opacification after surgery.Granulocyte colony stimulating factor 3 and MCP-1 were the main cytokines mediating the pain of the second eye in the binocular sequential cataract surgery short interval(1 wk)'while MCP-1 mediated pain in the long interval(6 wk).The second eye after binocular sequential cataract surgery had a higher level of proinflammatory factors.The components of aqueous humor in patients with different types of cataracts were related to the pathogenesis and postoperative complications of the disease.Monitoring the components of the aqueous humor could help better understand the intraocular microenvironment of different types of cataracts and provide a reference for predicting the development of the disease and implementing relevant targeted therapy. 展开更多
关键词 aqueous humor CATARACT SURGERY COMPLICATIONS CYTOKINE
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中医辨证论治眼底出血的疗效观察 被引量:3
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作者 李春艳 《临床合理用药杂志》 2012年第15期85-86,共2页
目的观察中医辨证论治眼底出血的疗效。方法根据临床表现分为:肝阴不足、肝阳上亢型;肝肾阴虚、虚火上炎型;热迫血行、溢于络外型;气滞血瘀、阻塞脉络型;脾虚统血失职、血不循经型;外伤撞击、脉络受损型。根据不同的分型,我科采用的治... 目的观察中医辨证论治眼底出血的疗效。方法根据临床表现分为:肝阴不足、肝阳上亢型;肝肾阴虚、虚火上炎型;热迫血行、溢于络外型;气滞血瘀、阻塞脉络型;脾虚统血失职、血不循经型;外伤撞击、脉络受损型。根据不同的分型,我科采用的治疗原则不同。结果痊愈30例,占34.9%;显效35例,占40.7%,有效19例,占22.1%,无效2例,占2.3%。总有效率为97.7%。结论中医治疗眼底出血疗效确切。 展开更多
关键词 辨证论治 眼底出血 内障症 治疗结果
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一个高铁蛋白血症-白内障综合征家系的基因变异检测
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作者 李彬 唐根云 +4 位作者 莫小雪 姜迎港 王乐 黄雪霜 姜海鸥 《中国优生与遗传杂志》 2023年第6期1266-1269,共4页
目的分析一个侗族遗传性高铁蛋白血症-白内障综合征(HHCS)家系的临床表型和致病变异。方法采用家系调查研究,收集于怀化市第一人民医院就诊的1个侗族HHCS家系,对部分家系成员进行眼科检查和血清铁蛋白含量测定,抽提DNA,对该家系先证者(... 目的分析一个侗族遗传性高铁蛋白血症-白内障综合征(HHCS)家系的临床表型和致病变异。方法采用家系调查研究,收集于怀化市第一人民医院就诊的1个侗族HHCS家系,对部分家系成员进行眼科检查和血清铁蛋白含量测定,抽提DNA,对该家系先证者(Ⅲ3)和患者(Ⅳ1)进行全外显子组测序,寻找致病基因。并用Sanger测序对家系所有成员进行验证。结果该家系符合常染色体显性遗传。先证者,男,37岁,自初中时发现视力低下,右眼裸眼视力0.5,左眼裸眼视力0.6,双晶状体在位,呈核、后囊下型混浊,核颜色淡黄,血清铁蛋白含量检测为1869μg/L。其余家系成员患者与先证者临床表型相似。基因检测结果显示,该家系铁蛋白的L亚基(FTL)基因5′-UTR中存在1个杂合变异c.-167C>T。经对家系中其他患者和正常亲属Sanger测序验证,该致病变异与家系疾病表型共分离。结论FTL基因+33C>T(c.-167C>T,chr19-49468598)变异可能是该HHCS家系的致病变异,该变异位点在中国侗族家系中首次报道,为该家系的遗传咨询和产前诊断提供了可靠的依据。 展开更多
关键词 遗传性高铁蛋白血-白内障综合征 全外显子组测序 FTL基因 变异
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1个先天性白内障家系的致病基因鉴定及遗传学分析
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作者 钟焱 彭凤兰 《中国优生与遗传杂志》 2024年第2期347-351,共5页
目的 对1个先天性白内障家系进行表型和基因分析,鉴别其致病基因,分析基因与家系异常表型的关系,为该家系的遗传咨询、诊断及治疗提供参考。方法 采集该家系成员的临床资料,诊断其白内障表型、绘制家系图、分析遗传方式。提取家系成员... 目的 对1个先天性白内障家系进行表型和基因分析,鉴别其致病基因,分析基因与家系异常表型的关系,为该家系的遗传咨询、诊断及治疗提供参考。方法 采集该家系成员的临床资料,诊断其白内障表型、绘制家系图、分析遗传方式。提取家系成员的外周血DNA,利用外显子组测序在先证者的基因组中寻找致病变异位点,利用多重连接依赖探针扩增技术筛查大片段缺失/插入;排除编码区变异、大片段缺失/插入与该家系的关系后,采用全基因组测序筛查该家系致病基因。结果 该家系22位成员参与临床检查,其中13人被诊断患有白内障,主要表现为眼部皮质混浊、核混浊、眼底窥不清等,年龄最大84岁,最小11岁。外显子组测序所得候选变异位点为COL7A1 c.6727T>C,但该变异在家系内未与疾病表型共分离;MLPA检测结果显示该家系在RHO、RP1、IMPDH1、PRPF31等4个基因不存在大片段缺失或重复;全基因组测序发现铁蛋白轻链亚基编码基因(FTL)5’-UTR区c.-168G>C(rs398124635)杂合变异,Sanger测序证明该变异位点在家系中与疾病表型共分离,Clinvar数据库评估该变异为有害变异。结论 该先天性白内障家系的遗传方式为常染色体显性遗传,FTL c.-168G>C为该先天性白内障家系的致病变异。 展开更多
关键词 先天性白内障 铁蛋白 遗传性高铁蛋白血内障综合征 FTL
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中医辨证治疗眼底出血68例临床体会 被引量:2
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作者 鲁周群 《光明中医》 2010年第6期993-995,共3页
目的探讨西医治疗基础上结合中医辨证论治眼底出血的临床疗效。方法根据患者就诊顺序采用随机数字表把患者随机分成两组,进行观察。结果治疗组与对照组有显著差异。结论中医治疗眼底出血疗效确切。
关键词 眼底出血 内障症 中医药疗法
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Sensory exotropia subsequent to senile cataract 被引量:1
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作者 LOU Ding-hua(楼定华) +3 位作者 XU Ye-sheng(许叶圣) LI Yu-min(李毓敏) 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2005年第12期1220-1222,共3页
To evaluate the phacoemulsification and intraocular lens implantation in patients with sensory exotropia subsequent to senile cataract. The authors prospectively studied the role of phacoemulsification and intraocular... To evaluate the phacoemulsification and intraocular lens implantation in patients with sensory exotropia subsequent to senile cataract. The authors prospectively studied the role of phacoemulsification and intraocular lens implantation on 25 patients by observing visual acuity, ocular alignment, binocular vision and diplopia pre-, 1 month post- and 3 months post-operation. The patients underwent follow-up for three months. Postoperatively, one patient had a corrected visual acuity of 20/50, and 24 patients had 20/40 or better. The ocular alignment, binocular vision and diplopia were resolved spontaneously. Phacoemulsification and intraocular lens implantation performed together is effective on sensory exotropia subsequent to senile cataract. 展开更多
关键词 PHACOEMULSIFICATION Senile cataract Sensory exotropia
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Changes in intestinal mucosal immune barrier in rats with endotoxemia 被引量:35
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作者 Chong Liu Ang Li +3 位作者 Yi-Bing Weng Mei-Li Duan Bao-En Wang Shu-Wen Zhang 《World Journal of Gastroenterology》 SCIE CAS CSCD 2009年第46期5843-5850,共8页
AIM: To investigate the dysfunction of the immunological barrier of the intestinal mucosa during endotoxemia and to elucidate the potential mechanism of this dysfunction. METHODS: Male Wistar rats were randomly dist... AIM: To investigate the dysfunction of the immunological barrier of the intestinal mucosa during endotoxemia and to elucidate the potential mechanism of this dysfunction. METHODS: Male Wistar rats were randomly distributed into two groups: control group and lipopolysaccharide (LPS) group. Endotoxemia was induced by a single caudal venous injection of LPS. Animals were sacrificed in batches 2, 6, 12 and 24 h after LPS infusion. The number of microfold (M)-cells, dendritic cells (DCs), CD4+ T cells, CD8+ T cells, regulatory T (Tr) cells and IgA+ B cells in the intestinal mucosa were counted after immunohistochemical staining. Apoptotic lymphocytes were counted after TUNEL staining. The levels of interleukin (IL)-4, interferon (IFN)-γ, and forkhead box P3 (Foxp3) in mucosal homogenates were measured by ELISA. The secretory IgA (sIgA) content in the total protein of one milligram of small intestinal mucus was detected using a radioimmunological assay.RESULTS: This research demonstrated that LPS-induced endotoxemia results in small intestinal mucosa injury. The number of M-cells, DCs, CD8~ T cells, and IgA~ B cells were decreased while Tr cell and apoptotic lymphocyte numbers were increased significantly. The number of CD4+ T cells increased in the early stages and then slightly decreased by 24 h. The level of IL-4 significantly increased in the early stages and then reversed by the end of the study period. The level of IFN-T increased slightly in the early stages and then decreased markedly by the 24 h time point. Level of Foxp3 increased whereas sIgA level decreased.CONCLUSION: Mucosal immune dysfunction forms part of the intestinal barrier injury during endotoxemia. The increased number and function of Tr cells as well as lymphocyte apoptosis result in mucosal immunode- ficiency. 展开更多
关键词 ENDOTOXEMIA RATS Intestinal mucosa IMMUNITY
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Bilateral Macular Lesions Following Electrical Injury
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作者 Chan Wu Rong-ping Dai +2 位作者 Fang-tian Dong Hong Du Hua Zhang 《Chinese Medical Sciences Journal》 CAS CSCD 2016年第3期196-199,共4页
HIGH-VOLTAGE electrical injuries can result in a variety of ocular complications. Cataract and macular edema are the most common injuries.Other injuries include punctate keratopathy,uveitis,macular hole,subretinal mac... HIGH-VOLTAGE electrical injuries can result in a variety of ocular complications. Cataract and macular edema are the most common injuries.Other injuries include punctate keratopathy,uveitis,macular hole,subretinal macular haemorrhage,and choroidal atrophy.We report a case that optical coherence tomography (OCT) and multifocal electro- retinogram (mfERG) clearly demonstrated the bilateral macular lesions following electrical injury, while the fundus examination was nearly normal. 展开更多
关键词 electrical injury macular lesion optical coherence tomography multifocal electroretinogram
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The Experimental Study on Implantation of Intraocular Lens in Different Animals
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作者 WANGGui-qin PENGXiu-jun GUHan-qing 《Chinese Journal of Biomedical Engineering(English Edition)》 2004年第4期162-165,共4页
Objective: To prevent the complications in cataract surgeries, the eyes of rabbits and monkeys were implanted with intraocular lens for 360 days. Methods: The eyes of the rabbits were performed with phacoemulsificatio... Objective: To prevent the complications in cataract surgeries, the eyes of rabbits and monkeys were implanted with intraocular lens for 360 days. Methods: The eyes of the rabbits were performed with phacoemulsification and soft intraocular lens implantation. The eyes of the monkeys were performed with extracapsular cataract extraction and hard intraocular lens implantation. Results: The postoperative reactions included corneal edema, anterior chamber exudation, posterior capsule opacification and so on. The complications in the eyes of the rabbits were more than that in the eyes of the monkeys. Conclusion: The different postoperative reactions happened in different animals. In clinical the choice of the operative method and intraocular lens depended on the case in order to acquire the best sight. 展开更多
关键词 RABBIT MONKEY Intraocular lens
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