论著

视网膜母细胞瘤基因表达谱芯片的生物信息学分析

Bioinformatics analysis of differentially expressed genes in retinoblastoma

:326-332
 
目的:应用生物信息学方法分析视网膜母细胞瘤(retinoblastoma,RB)基因表达谱芯片,从转录水平探讨RB与正常视网膜组织的差异表达基因(differentially expressed genes,DEGs)的功能及相互作用。方法:通过公共基因表达数据库(gene expression omnibus,GEO)数据库中选取GSE97508和GSE110811两个芯片数据,共有34个RB组织和6个正常视网膜组织。利用GEO2R工具对和Draw Venn Diagrams软件,筛选出正常视网膜组织与RB组织间的DEGs。通过在线STRING检索工具(search tool for the retrieval of interacting genes,STRING),对DEGs进行基因本体注释(gene ontology,GO)、KEGG富集通路分析、蛋白互作(protein-protein interaction,PPI)K分析。结果:在2个芯片中发现视网膜母细胞瘤共有20个DEGs,包括3个上调DEGs和17个下调DEGs,GO本体注释结果显示表达上调DEGs所富集的功能主要在细胞分裂、染色体浓缩、核分裂和DNA构象改变。下调DEGs主要富集在光传导、视觉感知、光感受器细胞修复、感光细胞内外节和调节视紫红质介导的信号通路等。KEGG通路显示上调DEGs没有显著的信号通路,下调DEGs参与光传导信号通路,其中包括CNGA1,CNGB1,RHO,SAG四个基因,通过PPI网络提示这4个基因相互联系,并发现与其他节点连接最紧密核心基因RHO。结论:利用生物信息学方法能有效对RB基因芯片数据进行挖掘,为进一步研究RB发生发展机制及寻找潜在的药物治疗靶点提供参考。
Objective: To find differentially expressed genes between retinoblastoma and normal retinal tissues by bioinformatics analysis, and to investigate their molecular function and interactions in the transcriptional level.Methods: The gene expression profile datasets GSE97508 and GSE110811, including 34 retinoblastoma (RB) tissues and 6 normal retinal tissues, were downloaded from gene expression omnibus (GEO). Differentially expressed genes (DEGs) between normal retinal tissues and RB tissues were identified by GEO2R tool and the Draw Venn Diagrams software. The gene ontology (GO) analysis, KEGG pathway and protein-protein interaction (PPI) were analyzed by STRING. Results: In two microarrays of retinoblastoma we found total 20 DEGs were identified, including 3 up-regulated and 17 down-regulated genes. The GO ontology annotation results showed that the enrichment functions of up-regulated genes were mainly in cell division, chromosome enrichment, nuclear division, and DNA conformation change. Down-regulated genes were mainly concentrated in light conduction,visual perception, photoreceptor cell repair, photoreceptor cell inner and outer segment, and regulation of rhodopsin mediated signaling pathway. The KEGG pathway showed that there was no significant signal pathway in which up-regulated genes up-regulated DEGs, and down-regulated genes were involved in the phototransduction signaling pathway, including four genes of CNGA1, CNGB1, RHO and SAG. PPI network suggested that these four genes were interlinked, and RHO was found to be the most closely connected core gene with other nodes.Conclusion: Bioinformatics can be used effectively to analyze RB microarray data to provide theoretical reference for further exploration of tumorigenesis mechanism and help search for potential drug therapeutic targets.
技术交流

“精于诊断,准其治疗”——精准医疗背景下北京大学第三医院干眼特色诊疗平台建设的探索与分析

“Be exact in diagnosis and accurate in treatment”—Exploration and analysis of construction of characteristic diagnosis and treatment platform for dry eye in Peking University Third Hospital under the background of precision medicine

:306-318
 
在大力发展精准医疗的时代背景下,北京大学第三医院眼科中心率先建立干眼精准医疗平台。通过规范和优化干眼诊疗流程,为患者提供个性化的治疗方案和预防指导意见,有效提高了干眼诊断的精确性与治疗的有效性,同时提升了干眼门诊接诊效能,改善了患者就诊体验。本文将从干眼精准医疗平台体系的建设内容、标准化的检查流程、个性化的诊疗方案等方面进行阐述,并结合实际临床案例,综合分析北京大学第三医院在干眼精准医疗方面进行的探索,展望干眼精准医疗平台的前景与未来。
In the era of developing precision medicine, the Ophthalmic Center of Peking University Third Hospital has taken the lead in establishing a dry eye precision medical platform. By standardizing and optimizing the diagnosis and treatment process of dry eye, this center provides personalized treatment plan and prevention guidance for patients, effectively improves the accuracy of dry eye diagnosis and the effectiveness of treatment, at the same time,improves the reception efficiency of dry eye clinic, and improves the patient’s clinic experience. In this paper, the construction content, standardized inspection process and personalized diagnosis and treatment scheme of dry eye precision medicine platform system will be described. Combined with the actual clinical cases, the exploration of the Peking University Third Hospital in dry eye precision medicine will be comprehensively analyzed, and the future of dry eye precision medical platform will be prospected.
论著

大气污染物NO2与干眼的临床相关性

Correlation between air pollutant NO2 and dry eye disease

:264-270
 
目的:探讨大气污染物NO<sub>2</sub>水平与干眼患病的相关性。方法:选取2014年1月至2018年1月共计75 279例干眼患者的临床资料,进行资料汇总。空气质量和天气数据来自西安市气象局2014—2018年的每日环境空气质量数据。分析中包括的环境空气污染物NO<sub>2</sub>。所有数据均按小时收集。计算每个变量的每日平均值,并计算本研究中使用的每周平均值。本研究中患者均自愿参加,并经南昌大学第一附属医院医学研究伦理委员会批准。结果:干眼的门诊就诊次数与NO<sub>2</sub>水平显著相关。本研究发现不同年龄段的人受到不同的参数变化影响,环境中NO<sub>2</sub>的浓度对于全年龄段的人患干眼有显著相关性,对性别无选择性,男女均会因为NO2在环境中的不同水平而患干眼。较高水平的环境NO<sub>2</sub>会增加门诊患者干眼的概率。我们通过对患者人数的累计与环境中NO<sub>2</sub>浓度进行相关性分析,发现其有显著相关性,因此环境空气污染和天气变化可能导致干眼的恶化。结论:大气污染物NO2与干眼患病有显著相关性。
Objective: To investigate the correlation between NO2 levels in air pollutants and dry eye. Methods: The clinical data of 75 279 patients with dry eye from January 2014 to January 2018 were selected and summarized. The air quality and weather data were from the daily ambient air quality data of Xi’an Meteorological Bureau from 2014 to 2018. Environmental air pollutants NO2 was included in the analysis. All data were collected on an hourly basis. We calculated the daily average for each variable and then calculated the weekly average used in this study.All patients in this study volunteered to participate. , and this study was approved by the Medical Research Ethics Committee of the First Affiliated Hospital of Nanchang University. Results: We found that the number of outpatient visits for dry eye was significantly correlated with NO2 levels. Our study found that people of different ages were affected by different parameter changes. The concentration of NO2 in the environment was significantly correlated with dry eyes in all age groups, and is not selective for gender. Both men and women could develop dry eyes due to different levels of NO2 in the environment. Our results showed that higher levels of environmental NO2 increased the chances of dry eyes in outpatients. By analyzing the correlation between the cumulative number of patients and the NO2 concentration in the environment, we found that the correlation was significant.Therefore, ambient air pollution and weather changes may lead to the deterioration of dry eye. Conclusion: There is a significant correlation between atmospheric pollutant NO2 and dry eye disease.
综述

新型纳米材料在干眼中的应用进展

Progress in the application of new nanomaterials in dry eye

:233-239
 
局部点药是眼部用药最常见的方式,但一般药物通过角膜困难,药物生物利用度低。纳米载体药物于8 0年代开始用于眼部,脂质体和类脂质囊泡(niosomes)与眼表的黏蛋白相互作用,延长药物在眼表的停留时间。纳米乳剂(nanoemulsion)的表面活性剂可以松解角膜上皮细胞紧密连接,形成转运开口,抑制细胞表面糖蛋白酶P(glycoprotein P,Pgp)降解药物活性蛋白。纳米粒子(nanoparticles)通过角膜上皮和结膜上皮而不会引起毒性。纳米胶囊(nanocapsules)更深地内化到角膜上皮(50 μm处)。聚合物胶束(polymeric micelles)自组装成核-壳纳米载体增强药物渗透角膜的能力。阴离子高代聚酰氨基胺(poly-amidoamine,PAMAM)树枝状大分子增强药物通透性,中性和阳离子低代树枝状大分子通过网格蛋白途径介导药物更高的通透性。纳米晶体(nanocrystal),除增强药物溶解度和溶解速率之外,它的高黏附能力帮助药物保留和渗透到眼组织中。纳米结构材料与干眼关联密切,为干眼的治疗、诊断提供手段。
Topical administration is the most common method of ocular medication, but it is generally difficult for the drug to pass through the cornea, and the bioavailability of the drug is low. Nanocarrier drugs were used in eyes in the 1980s, and liposomes and lipoids vesicles (Niosomes) interacted with ocular surface mucins to prolong  the residence time of the drug on the ocular surface. Nanoemulsion surfactants can release the tight junctions of corneal epithelial cells, form transport openings, and inhibit the degradation of pharmaceutically active proteins by cell surface glycoprotein P (Pgp). Nanoparticles pass through the corneal and conjunctival epithelium without causing toxicity. Nanocapsules internalize deeper into the corneal epithelium (at 50 μm). Polymeric micelles self-assemble into core-shell nanocarriers to enhance the ability of drugs to penetrate the cornea. Anionic high-generation poly-amidoamine (PAMAM) dendrimers enhance drug permeability. Neutral and cationic low-generation dendrimers mediate higher drug permeability through clathrin pathway. Nanocrystal, in addition to enhancing drug solubility and dissolution rate, its high adhesion ability helps drug retention and penetration into ocular tissues. Nanostructured materials are closely related to dry eye and provide a choice for the treatment and diagnosis of dry eye.
综述

基于泪膜破裂方式的干眼诊断新思路

A new diagnosis consideration of dry eye based on tear-film-oriented

:227-232
 
泪膜的不同组成成分通过相互作用共同维持眼球表面的湿润,从而维持眼部健康。当这些组成成分出现病理性改变,将会不同程度的影响泪膜稳态,从而导致干眼的发生。而瞬目运动一定程度上影响着泪膜组成成分的分布,随着对干眼相关机制研究的逐步深入,以泪膜为导向的诊断(tear-film-oriented diagnosis,TFOD)的新概念被提出,并被逐渐被接受。我们可以通过泪膜破裂方式来确定眼球表面所缺乏的组成成分,并在此基础上对干眼进行诊断,从而定向补充泪膜缺失成分,重新恢复泪膜稳态。本文将着重分析瞬目、泪膜形成及泪膜破裂机制之间的关系,从而进一步明确泪膜定向诊断的新概念及发展方向。
Different components of the tear film work together to maintain the wettability of the ocular surface, thus maintaining eye health. When the pathological changes of these components occur, the tear film homeostasis will be affected to varying degrees, leading to dry eye. Blinking movement affects the distribution of tear film components to some extent. With the continuous development of research and understanding of the concept and mechanism of dry eye, new concepts of tear-film-oriented diagnosis (TFOD) have been gradually proposed and widely accepted. We can determine the components lacking on the surface of the eye through the tear film  breakup patterns (BUPs). On this basis, dry eye is diagnosed, so as to replenish the lacking components of tear film directionally and restore the stability of tear film. This paper will focus on analyzing the relationship between blinking, tear film formation and tear film break-up mechanism, so as to further clarify the new concept and development direction of tear-film oriented diagnosis.
综述

近视性黄斑病变的分类进展和诊治现状

Advances in classification, diagnosis and treatment of myopic maculopathy

:219-226
 
近视性黄斑病变(myopic maculopathy,MM)是近视最常见的并发症,也是影响病理性近视视功能下降的主要原因。目前,MM的分类系统尚不能完全解释患者黄斑部发生的多种变化,迫切需要一个全面、统一的分类系统来协助沟通和比较临床试验以及国际多中心研究的结果。随着眼底成像技术的发展与应用,最新的近视性黄斑病变分类,即ATN分类系统[萎缩(A)、牵拉(T)、和新生血管(N)]结合眼底照片与光学相干断层扫描(optical coherence tomography,OCT)图片,把黄斑病变分为3类,每一类又根据其严重程度进行分级,这对MM的诊断和治疗提供了较大的临床价值。
Myopic maculopathy (MM) is the most common complication of myopia, which is also the main cause of poor visual function in pathologic myopia. Presently, the classification system of MM cannot properly explain the numerous changes that occur in the patient’s macula. Therefore, a comprehensive and unified classification system is urgently needed to facilitate in communicating and comparing the results of clinical trials and international multicenter studies. With the development and application of fundus imaging technology, the latest classification of MM, namely ATN (atrophy, A; traction, T; neovascularization, N) classificationsystem, which combines fundus photographs and optical coherence tomography (OCT) images, classifies macular lesions into 3 categories according to its severity, generating greater clinical value for the diagnosis and treatment of MM.
论著

PDCA循环管理模式在优化白内障日间患者诊疗流程中的应用

Application of PDCA cycle management mode in optimizing the diagnosis and treatment process of cataract patients with daytime surgery

:211-214
 
目的:探讨PDCA循环管理模式在优化白内障日间患者诊疗流程中的应用与成效。方法:选取中山大学中山眼科中心白内障病区2018年9月至2019年12月收治的白内障日间患者400例作为试验对象,选择2018年9月至2019年4月200例患者作为优化前组,选择实施PDCA循环管理模式后的2019年5月至2019年12月的200例患者作为优化后组。统计并比较两组患者实施前后的术前检查时长、住院时长、术后第1天复诊路径及患者满意度。结果:PDCA循环管理法实施了7个月后,患者术前检查时长由优化前的(2.94±2.12) h降至(2.09±0.93) h,住院时长由优化前的(22.73±1.14) h 降至(5.22±1.29) h,差异均具有统计学意义( P <0.001);患者满意度由优化前的92%上升至96%(P<0.05);术后第1天,患者复查所需行走的路径缩短,由以前的172 m降至129 m。结论:实施PDCA循环管理模式能有效地改善白内障日间患者的诊疗流程,缩短患者诊疗时间,提高患者的满意度,值得临床推广。
Objective: To explore the application and effect of Plan-Do-Check-Act (PDCA) cycle management mode in optimizing the diagnosis and treatment process of cataract patients with daytime surgery. Methods: A total of 400 cases of patients with daytime surgery admitted to Department of Cataract, Zhongshan Ophthalmic Center,Sun Yat-sen University from September 2018 to December 2019 were selected as the experimental subjects. 200 patients from September 2018 to April 2019 were selected as the pre-optimization group, and 200 patients from May 2019 to December 2019 after the implementation of the PDCA cycle management mode were selected as the post-optimization group. Time of preoperative examination, length of hospital stay, the follow-up path in the first day after surgery and patient satisfaction were statistically compared between the two groups before and after implementation. Results: Seven months after the implementation of PDCA cycle management mode, the preoperative examination time decreased from (2.94±2.12) h to (2.09±0.93) h, and the length of hospital stay decreased from (22.73±1.14) h to (5.22±1.29) h, and the differences were statistically significant (P<0.001); the patients’ satisfaction increased from 92% to 96% (P<0.05); the follow-up path in the first day after operation was changed from the 13th floor (172 m) to the 3rd floor (129 m). Conclusion: The implementation of PDCA cycle management mode can effectively improve the diagnosis and treatment process of cataract patients with daytime surgery, shorten the diagnosis and treatment time and improve the satisfaction of patients, so it is worthy of clinical promotion.
论著

2型糖尿病视网膜病变严重程度与血清生化全套指标的相关性

Correlation between the severity of type 2 diabetic retinopathy and the serum biochemical indexes

:200-204
 
目的:分析不同程度2型糖尿病视网膜病变的血清生化全套指标,探讨各生化指标与糖尿病性视网膜病变(diabetic retinopathy,DR)程度的相关性。方法:回顾性收集2018年5月至2020年10月在福建医科大学附属第二医院就诊的2型糖尿病患者。根据眼底情况分为3组:糖尿病不伴视网膜病变(non-diabetic retinopathy,NDR)组(17例)、糖尿病伴非增殖性视网膜病变(non-proliferative diabetic retinopathy,NPDR)组(29例)、糖尿病伴增殖期视网膜病变(proliferative diabetic retinopathy,PDR)组(34例)。采用SPSS 24.0分析比较3组血清生化全套各指标水平,对差异指标与DR相关性采用Pearson相关分析与多重线性回归分析。结果:3组年龄差异无统计学意义(P>0.05);3组的总蛋白、白蛋白、白球比、钙浓度差异均有统计学意义(均P<0.05)。组间比较发现NPDR和PDR组总蛋白、白蛋白、白球比、钙浓度低于NDR组,差异有统计学意义(P<0.05)。Pearson相关分析显示总蛋白(r=?0.290)、白蛋白(r=?0.304),钙浓度(r=?0.252)与DR呈负相关(均P<0.05),多重线性回归提示总蛋白、白蛋白及血钙浓度是DR保护因素(P<0.05)。结论:血清指标总蛋白、白蛋白及血钙浓度与DR成负相关,在生理范围内将这些指标维持相对较高的水平,或许可以为糖尿病视网膜病变的防治提供新思路。
Objective: To analyze the serum biochemical indexes of different degrees of type 2 diabetic retinopathy, and the correlation between biochemical indexes and the degree of diabetic retinopathy (DR). Methods: Patients with type 2 diabetes admitted to the Fujian Medical University 2nd Affiliate Hospital from May 2018 to October 2020 were retrospectively collected. The patients were divided into 3 groups according to fundus conditions: non-diabetic retinopathy (NDR) group (n=17), diabetes with non-proliferative diabetic retinopathy (NPDR) group (n=29),diabetes with proliferative diabetic retinopathy (PDR) group (n=34). SPSS 24.0 was used to compare the levels of a complete set of serum biochemical indexes in the three groups. Pearson correlation analysis and multiple linear regression analysis were used for the correlation between the different indexes and DR. Results: There was no statistically significant difference in age between the three groups. The differences in total protein, albumin, white sphere ratio, and calcium concentration of the three groups were statistically significant (P<0.05). The comparison between the groups showed that the total protein, albumin, white sphere ratio, and calcium concentration in the NPDR and PDR groups were lower than those in the NDR group. The difference was statistically significant (P<0.05). Pearson correlation analysis showed that total protein (r=?0.290), albumin (r=?0.304), and
calcium concentration (r=?0.252) were negatively correlated with DR (all P<0.05). Multiple linear regression indicated total protein, albumin and blood calcium concentration were the protective factors of DR (P<0.05).Conclusion: This study found that serum levels of total protein, albumin, and blood calcium levels are negatively correlated with DR. Maintaining a relatively high level of these indexes within the physiological range may provide new ideas for the prevention and treatment of diabetic retinopathy.
病例报告

三叉神经鞘瘤并发神经麻痹性角膜炎一例

Trigeminal schwannoma complicated with nerve paralysis keratitis: a case report

:360-363
 
该文报道一例中年男性患者,因“头痛伴左侧听力下降”就诊于我院神经外科,经影像学检查诊断为“左侧三叉神经鞘瘤”, 手术前实验室检查发现血象异常,经血液科会诊后诊断为多发性骨髓瘤IgDλ型,于化疗期间并发神经麻痹性角膜炎(neurotrophic keratitis,NK),可于角膜中央偏下方的上皮及前基质层见到类圆形的灰白色浑浊,呈胶冻样,经局部药物治疗后好转,但残留角膜基质白色浑浊。由于现阶段临床对NK尚欠缺充分认识,易延误诊治,并且本文报道的此例NK患者,因其有化疗病史且于治疗期间出现相关体征,易被误诊为化疗并发细菌性角膜炎,文章通过分析其角膜病变的特征及简单回顾NK的临床特征、鉴别诊断及治疗,以期临床早期识别及治疗此类患者,恢复角膜的光学特性,维持良好的视觉体验。
Tis article reports a case of a middle-aged male patient who visited the Department of Neurosurgery of our hospital due to headache and lef hearing loss. He was diagnosed with lef trigeminal schwannoma by imaging examination and abnormal blood routine before surgery. During chemotherapy and paralytic keratitis (neurotrophic keratitis, NK), can be seen in the lower part of the corneal center of the epithelium and the prestromal layer of round gray and white turbidities, jelly like, afer local drug treatment improved, but residual corneal stromal white turbidities. Due to the lack of full understanding of NK in clinic at the present stage, diagnosis and treatment is easy to be delayed. In addition, the NK patient reported in this paper was easily misdiagnosed as bacterial keratitis complicated by chemotherapy due to his history of chemotherapy and related signs during treatment. Tis paper analyzed the characteristics of keratopathy and briefy reviewed the clinical characteristics, diferential diagnosis and treatment of NK, in order to identify and treat these patients in early clinical stage, restore the optical characteristics of cornea and maintain good visual experience.
眼底内专栏

光学相干断层扫描成像对急性中心性浆液性脉络膜视网膜病变渗漏点的前瞻性观察研究

Observation on the leakage point of acute central serous chorioretinopathy through optical coherence tomography: A prospective study

:115-121
 
目的:观察急性中心性浆液性脉络膜视网膜病变(central serous chorioretinopathy,CSC)的自然病程中渗漏点的形态及变化。方法:本研究为前瞻性研究,使用光学相干断层扫描(optical coherence tomography,OCT)观察从发病到发病后5~13个月的CSC患者的渗漏点的OCT形态,测量并计算Hall层、脉络膜全层各自厚度及比值,并进行比较。结果:共20例患者[男14例,女6例,年龄33~59(中位数41)岁]纳入研究。随访时间为5~13个月。在19例患者中观察到微小视网膜色素上皮脱离(pigment epithelium detachment,PED)。1例患者可见视网膜色素上皮(retinal pigment epithelium, RPE)小凸起。在随访期间,仅1例患者的PED完全恢复,其他19例患者在视网膜下液被完全吸收时,RPE和Bruch膜之间仍存在微小分离。渗漏点处的Haller层/脉络膜厚度显著高于中央凹处(初诊时0.806±0.08 vs 0.863±0.06,P=0.003;最后1次随访时为0.801±0.07 vs 0.851±0.06,P=0.004)。结论:本研究观察到在急性CSC患者自然病程中,即使视网膜下液吸收,OCT显示渗漏点处仍存在持续的PED,更厚的Haller层及更薄的内层脉络膜,这些发现为CSC的发病机制提供了更多线索。
Objective: To observe the morphology and changes of leakage points in the natural course of acute central serous chorioretinopathy (CSC). Methods: This study was a prospective study, using optical coherence tomography to observe the OCT morphology of leakage points in CSC patients from onset to 5 to 13 months after onset, measuring the thickness and ratio of Hall layer and the whole choroid, and then compare them. Results: A total of 20 patients were included in the study, including 14 males and 6 females, aged from 33 to 59, with the median being 41 years old. The follow-up time ranged from 5 months to 13 months. Minute retinal pigment epithelial detachments (PED) were observed in 19 patients. A small bulge of retinal pigment epithelium (RPE) was observed in 1 patient. During the follow-up, only one patient totally recovered. Small separation between RPE and Bruch membrane still exit even subretinal fluid were absorbed completely in the other 19 patients. The thickness of Haller layer or choroid at the leakage point was significantly higher than that of the fovea (0.806±0.08 vs 0.863±0.06, P=0.003, at the first visit; 0.801±0.07 vs 0.851±0.06, P=0.004, at the last follow-up). Conclusion: This study observed that in the natural course of acute CSC patients, even if the subretinal fluid was absorbed, OCT still showed that there was persistent PED at the leakage point, thicker Haller layer and thinner inner choroid layer. These findings provided more clues to the pathogenesis of CSC.
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  • 眼科学报

    主管:中华人民共和国教育部
    主办:中山大学
    承办:中山大学中山眼科中心
    主编:林浩添
    主管:中华人民共和国教育部
    主办:中山大学
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  • Eye Science

    主管:中华人民共和国教育部
    主办:中山大学
    承办:中山大学中山眼科中心
    主编:林浩添
    主管:中华人民共和国教育部
    主办:中山大学
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