综述

CRISPR基因编辑技术及其在眼科疾病中的应用进展

Progress in the development of CRISPR genome editing technology and its application in ophthalmic disease

:537-542
 
CRISPR(clustered regularly interspaced short palindromic repeats)基因编辑技术通过精准改变细胞DNA序列,控制细胞命运及表型,是有望从根本上改变疾病治疗的新技术。由于眼球独特的生理构造,基因编辑疗法在治疗眼科疾病方面的应用具有明显的优势。目前,CRISPR基因编辑疗法治疗10型Leber先天性黑矇(Leber congenital amaurosis 10,LCA10)的临床试验已经展开,治疗其他多种眼科疾病的临床试验也即将开始。随着新一代CRISPR基因编辑技术的发展,基因编辑疗法有望为眼科疾病的治疗提供新的手段。
Clustered regularly interspaced short palindromic repeats (CRISPR) genome editing is a newly developed technology to precisely modify cellular DNA sequence, which could control cell fate and phenotype and fundamentally reform disease treatment. The structure of the eye offers unique advantages as a genome editing target. Recently, a CRISPR genome editing therapy has begun to be tested in Leber congenital amaurosis 10 (LCA10) patients, and the clinical trials for more ocular diseases are about to start. The development of CRISPR/Cas genome editing tools will drive major advances in the application of gene therapies in the treatment of ophthalmic disease.
论著

湖南地区汉族人群糖尿病视网膜病变危险因素的相关性

Correlation of risk factors of diabetic retinopathy in Han population in Hunan

:509-516
 
目的:分析湖南地区汉族人群中2型糖尿病患者的人口学特征及生化指标,寻找糖尿病视网膜病变的高危因素。方法:釆用病例对照研究,统计湖南地区正常人群、2型糖尿病但无视网膜病变患者、2型糖尿病视网膜病变患者的人口学特征及生化指标的相关数据,进行成组t检验及logistic回归分析,探讨分析糖尿病视网膜病发生的易感因素。所有研究对象均为汉族。结果:对照组[非糖尿病(non-diabetes mellitus,NDM)组]和2型糖尿病未合并视网膜病变[(non-diabetic retinopathy,NDR)]组之间性别分布、年龄分布、BMI、舒张压、HbA1c、总胆固醇、高密度脂蛋白(high-density lipoprotein,HDL)、尿酸及总胆红素差异无统计学意义(均P>0.05)。NDM组中腹围、收缩压、空腹血糖、三酰甘油、肌酐和低密度脂蛋白(low-density lipoprotein,LDL)值均低于NDR组,差异有统计学意义(均P<0.05)。NDM组中BMI、腹围、收缩压、舒张压、空腹血糖、HbA1c、总胆固醇、三酰甘油、肌酐和LDL值均低于2型糖尿病合并视网膜病变组(diabetic retinopathy,DR)组,差异有统计学意义(均P<0.05)。NDR组收缩压、舒张压、HbA1c、总胆固醇、三酰甘油和肌酐值均低于DR组,差异有统计学意义(均P<0.05)。结论:收缩压超过150 mmHg,舒张压超过90mmHg,糖化血红蛋白超过9%,血清肌酐超过100 μmol/L,三酰甘油超过3 mmol/L均为糖尿病患者发生视网膜病变的高危易感因素。
Objective: To analyze the demographic characteristics and biochemical indexes of type 2 diabetic patients in Han population in Hunan, and to find the high-risk factors of diabetic retinopathy. Methods: The data of demographic characteristics and biochemical indexes of normal population, type 2 diabetic patients but without retinopathy and type 2 diabetic retinopathy in Hunan were analyzed. Group t test and logistic regression analysis were used to analyze the susceptibility factors of diabetic retinopathy. All the subjects were Han population. Results: There were no significant differences in gender distribution, age distribution, BMI, diastolic blood pressure, HbA1c,total cholesterol, high-density lipoprotein, uric acid and total bilirubin between the control group [non-diabetes mellitus (NDM) group] and the type 2 diabetic without retinopathy group [non-diabetic retinopathy (NDR)group] (all P>0.05). The abdominal circumference, systolic blood pressure, fasting blood glucose, triglyceride,creatinine and low-density lipoprotein in NDM group were all lower than those in NDR group, and the differences were statistically significant (all P<0.05). BMI, abdominal circumference, systolic blood pressure, diastolic blood pressure, fasting blood glucose, HbA1c, total cholesterol, triglyceride, creatinine and LDL in NDM group were all lower than those in type 2 diabetic retinopathy (DR) group, and the differences were statistically significant (all P<0.05). The comparison between the NDR group and the DR group showed that the values of systolic blood pressure,diastolic blood pressure, HbA1c, total cholesterol, triglyceride and creatinine in the NDR group were all lower than those in the DR group, and the differences were statistically significant (all P<0.05). Conclusion: SBP ≥150 mmHg,DBP ≥90 mmHg, HbA1c ≥9%, serum creatinine ≥100 μmol/L, triglyceride ≥3 mmol/L are the high-risk factors of diabetic retinopathy.
综述

青光眼视觉功能损害导致运动行为异常的研究与康复治疗手段展望进展

Research on abnormal movement behavior caused by damage to visual function of glaucoma and prospect of rehabilitation treatment

:478-485
 
青光眼是全世界范围内不容忽视的致盲性眼病,其起病隐匿,视功能损害进展迅速,晚期预后不理想。长期发展且未行治疗的青光眼患者视神经呈进行性损害,引起视力急剧下降、视野不可逆性缺损,严重降低患者的生活质量。为了适应逐渐恶化的视功能,患者注视行为发生明显变化,由此在日常活动中引起步态行为随之改变,意外事故频繁发生。故目前对于青光眼的研究引起国内外广泛重视,虚拟现实技术(virtual reality,VR)作为青光眼早期诊断及康复治疗的新手段已被现代医学所尝试。本文具体阐述了青光眼的视觉损害与注视行为及运动行为间的联系,并总结了目前国内外关于VR诊断青光眼及作为康复治疗的相关研究。
Glaucoma is a blinding eye disease that cannot be ignored worldwide. Its onset is insidious, visual impairment is progressing rapidly, and the late prognosis is not ideal. Long-term untreated glaucoma patients show progressive damage to the optic nerve, causing a sharp decline in vision, irreversible visual field defects, and severely reducing the quality of life of the patients. In order to adapt to the gradual deterioration of visual function, the patient’s gaze behavior changes significantly, which causes the gait behavior to change in daily activities, and accidents occur frequently. Therefore, the current research on glaucoma has attracted wide attention in the nation and abroad,and virtual reality (VR) technology has been tried in modern medicine as a new method for early diagnosis and rehabilitation of glaucoma. This article specifically elaborates the relationship between the visual impairment of glaucoma and the gaze behavior and movement behavior, and summarizes the current domestic and foreign research on the diagnosis of glaucoma and the rehabilitation of VR technology.
论著

原发性慢性青光眼患者双眼视觉和生活质量相关性研究

Correlation between the binocular visual field and visual function quality of life in patients with primary chronic glaucoma

:465-472
 
目的:评估与原发性慢性青光眼患者生活质量最具相关性的视觉指标。方法:回顾性病例系列研究。收集2010年3月至2010年8月就诊于首都医科大学附属北京同仁医院且符合入选及排除标准的原发性慢性闭角型青光眼和原发性开角型青光眼患者131例262只眼。采用Humphrey Field AnalyzerII 750i型视野分析仪对入选患者分别进行单眼Central 24-2程序和Esterman双眼视野检查程序(Esterman Binocular Visual Field Test,EBVFT)各两次检查,以保证所得数据的可靠性。使用LogMAR视力表检查并记录受试者日常单眼生活视力和日常双眼生活视力、非接触式眼压计测量眼压、直接眼底镜检查视神经的杯盘比。记录病史及目前所使用抗青光眼药物,角膜及晶状体状态。应用视功能相关生活质量量表-25(25-Item National Eye Institute Visual Function Questionnaire,VFQ-25)对患者进行生活质量评估,并将双眼日常生活视力、较好眼生活视力、较差眼视野MD(mean defect)值、较好眼视野MD值、(Esterman Visual Field Test,EVFT)效用值和VFQ-25得分进行相关性分析。结果:共有131例受试者符合入选条件。在患者生存质量的统计中,自我评价视力、近距离活动、远距离活动、社会功能、依赖程度、色觉、视野这7项得分较好,即受试者完成该7项的能力较高。VFQ-25总分与EBVFT效用值成正相关(r=0.24998,P=0.004<0.05),与双眼日常生活视力成负相关(r=?0.37778,P<0.0001),与较差眼视野MD值成正相关(r=0.22917,P=0.0187<0.05),与较好眼生活视力、较好眼视野、较差眼生活视力无明显相关关系。结论:原发性慢性青光眼患者双眼视觉(双眼视野和双眼日常生活视力)和VFQ-25有良好的相关性,可用于评估慢性青光眼患者的生活质量。
Objective: To assess the correlation between the Esterman binocular visual field (EBVF) and the visual function quality of life (VFQ) in primary chronic glaucoma patients. Methods: It is a retrospective case series study.One hundred and thirty-one patients, that is to say, two hundreds and sixty-two eyes, with primary chronic glaucoma satisfying the methodological criteria were recruited for this study, who were chosen from Beijing Tongren Hospital, Capital Medical University from March 2010 to August 2010. The Humphrey Field Analyzer Model II 750i (Humphrey Instruments, Zeiss Company) was used to perform an Esterman binocular visual field test (EBVFT) and bilateral monocular full-threshold central visual field testing using the 24-2 SITA Standard program. Visual acuities were examined by logarithm of the minimum angle of resolution (logMAR) scale. Intraocular pressure and cup-disc ratio were also recorded. The history with glaucoma and anti-glaucoma drugs, and the state of the cornea and crystalline lens were also remarked. All interviews were administered face to face by the same experienced interviewer, by using the 25-Item National Eye Institute Visual Function Questionnaire (VFQ-25). Agreement between the scores from these tests and the VFQ-25 was evaluated. Results: A total of 131 patients were recruited. In the statistics of the quality of life, seven domain scores of the VFQ-25 (self-assessment vision, color vision, near action, distant action, social function, mental health and peripheral vision) were better than the others, which meant the ability of completing the seven domain was higher. Substantial agreement was found between the composite score of the VFQ-25 and the Esterman test (r=0.24998, P=0.004<0.05), strong negative correlation was found between the composite score of the VFQ-25 and the binocular visual acuity of daily life (r=?0.37778, P<0.0001), and positive correlation was found between the composite score of the VFQ-25 and the MD of the worse eye (r=0.22917, P=0.0187<0.05).Conclusion: In this sample of clinic-based patients with primary chronic glaucoma, the efficiency score of the binocular visual field tests correlated well with the composite score of the VFQ-25. Binocular visual function can be well used in evaluating the quality of life of the glaucoma patients.
论著

温州青光眼进展研究报告之四:睡眠体位与其青光眼视神经损害及其进展的关系

No. 4 report of Wenzhou Glaucoma Progression Study: association between sleeping position and glaucomatous optic nerve damage and its progression

:457-464
 
目的:探讨正常眼压性青光眼(normal tension glaucoma,NTG)患者睡眠体位与其双眼不对称损害的关系。方法:纳入2014年1月至2018年9月在温州青光眼进展研究(Wenzhou Glaucoma Progression Study,WGPS)项目中的NTG患者。眼部主要检查有视野和光学相干断层扫描(optical coherence tomography,OCT)。睡眠体位数据通过基线睡眠体位问卷获得。根据侧卧位睡眠偏好,将NTG患者眼部参数分为卧位高侧眼和卧位低侧眼进行讨论;根据双眼不对称损害,将患者眼部参数分为较好眼和较差眼讨论。双眼不对称损害定义为双眼视野平均偏差(mean deviation,MD)差值>6 dB或杯盘比差值>0.2。结果:共纳入158例NTG患者,最长随访时间为48个月,其中122例(77.22%)患者存在睡眠偏好;存在睡眠偏好的患者中,83例(68.03%)患者存在侧卧位偏好;存在侧卧位偏好的患者中,大多数患者偏好右侧卧位[右vs左:59 (71.1%) vs 24 (28.9%),P<0.001]。对存在侧卧位偏好的患者进行分析,发现卧位高侧眼与卧位低侧眼眼部参数之间,差异无统计学意义(P>0.05);卧位低侧眼的视野进展速率[视野指数(visual field index,VFI)、MD]慢于卧位高侧眼(0.48%±1.66%/年 vs ?0.45%±3.07%/年;0.54±0.96 dB/年 vs 0.2±1.15 dB/年),差异无统计学意义(P=0.086,P=0.308)。对同时存在侧卧位偏好及双眼不对称损害的患者进行分析,发现卧位高侧眼与卧位低侧眼的眼部参数之间,差异无统计学意义(P>0.05);卧位低侧较好眼的个数及占比高于卧位低侧较坏眼[23 (57.5%) vs 17(42.5%)],但差异无统计学意义(P=0.132);卧位低侧眼的视野进展速率(VFI、MD)也慢于卧位高侧眼(1.19%±1.65%/年 vs ?0.86%±3.65%/年;0.71±1.13 dB/年 vs0.13 dB/年),但差异无统计学意义(P=0.064,P=0.419)。结论:存在睡眠体位偏好的NTG患者中,约68%存在侧卧位偏好;存在侧卧位偏好的患者中,约70%偏好右侧卧位。但本研究并未发现睡眠体位与青光眼患者双眼不对称损害及其疾病进展存在相关性。
Objective: To investigate the association between lateral decubitus position (LDP) and asymmetric loss in normal tension glaucoma (NTG) patients. Methods: NTG patients were enrolled from Wenzhou Glaucoma Progression Study (WGPS) in Jan. 2014 to Sep. 2018. The main eye examinations included visual field test and optical coherence tomography (OCT). A questionnaire to determine the preferred sleeping position was administered to each patient in the baseline. According to the LDP, the eye parameters were divided into non-dependent eyes(higher lateral eyes) and dependent eyes (lower lateral position eyes) for discussion. According to the asymmetric damage, the ocular parameters of the patients were divided into the better eyes and the worse eyes for analysis.Asymmetric loss was defined as a difference in mean deviation (MD) between the 2 eyes of at least 6 dB or disc/cup >0.2. Results: One hundred and twenty-two patients (77.22%) had sleep preferences among the 158 NTG patients who was finally recruited and the longest follow up time was 48 months. Among the patients with sleep preference, 83 patients (68.03%) preferred the lateral decubitus position. Patients who had the lateral decubitus position mostly preferred the right lateral position [59 (71.1%) vs 24 (28.9%), P<0.001]. For patients who had the lateral decubitus position, the ocular parameters between the dependent eyes and the non-dependent eyes had no statistical difference(P>0.05); the rate of visual field progression in the dependent eyes was slower than that in non-dependent eyes, but there was no statistical difference between the two groups (0.48%±1.66%/year vs ?0.45%±3.07%/year; 0.54±0.96 dB/year vs 0.2±1.15 dB/year; P=0.086, P=0.308, respectively). For patients who had the lateral decubitus position and asymmetric damage, the ocular parameters between the dependent eyes and the non-dependent eyes had also no statistical difference (P>0.05); the number and ratio of the dependent-better eye and the dependent-worse eye were 48 and 41, respectively [23 (57.5%) vs 17 (42.5%), P=0.132]; the rate of visual field progression in the dependent eyes was also lower than that in non-dependent eyes, but there was no statistical difference between the two groups (1.19%±1.65%/year vs ?0.86%±3.65%/year; 0.71±1.13 dB/year vs 0.13 dB/year; P=0.064, P=0.419 respectively). Conclusion: About 68% of NTG patients with sleep preferences preferred the lateral decubitus position; and about 70% of patients with the lateral decubitus position preferred the right side sleeping. However, this study did not find a correlation between lateral decubitus position and asymmetric visual field loss.
论著

人工智能诊断系统在基层眼底视网膜疾病筛查领域的应用实践

Application practice of artificial intelligence diagnosis system in the field of primary fundus retinal disease screening

:405-413
 
目的:借助于人工智能(artificial intelligence,AI)眼底筛查远程接转诊系统,探索“患者-社区-医院”远程筛查模式,推进眼科分级诊疗和双向转诊实施,为地市级医疗机构开展眼底疾病人工智能筛查工作提供一定的经验借鉴。方法:通过AI辅助远程筛查基层医疗机构的4886例患者,完成眼科检查并经AI初判、人工复核形成眼底诊断结论。通过医联体和专科联盟模式,对基层医疗机构的4886例患者的AI诊断系统结果和上级医师审核结果进行对照分析,分析AI诊断系统在眼科常见病种筛查中的推广应用的可信度和可行性。结果:AI检出DR的灵敏度为94.70%,特异度96.06%;DME的灵敏度96.43%,特异度96.55%;AMD的灵敏度77.55%,特异度95.74%;同时,其在病理性近视、白内障、青光眼等常见病种眼底筛查中也有一定作用。结论:AI辅助远程筛查系统对于绝大多数眼底疾病有较高的敏感性和特异性,适用于眼底疾病的筛查工作,利于基层医院或社区医院对于眼底疾病的初步诊断,落实眼科分级诊疗,有借鉴推广意义。
Objective: With the help of artificial intelligence (AI) based fundus screening remote referral telemedicine system,it enables us to explore the remote screening mode of patient-community-hospital, and promote the two-way referral and ophthalmic graded diagnosis. This investigation provides certain practice experiences for prefecture-level medical institutions to carry out AI screening for fundus diseases. Methods: Ophthalmologic examination was performed on 4,886 patients in primary medical institutions through AI-aided remote screening, and the final fundus diagnosis conclusion was formed after AI preliminary judgment and manual review. Through the Medical Consortium and specialty alliance model, the results of the AI diagnosis system and the audit results of superior physicians for 4 886 patients in primary care institutions were compared and analyzed, and the credibility and feasibility of the AI diagnosis system application in the screening of common ophthalmic diseases were discussed. Results: The sensitivity and specificity of AI detection of diabetic retinopathy were 94.70% and 96.06%, respectively. In the diabetic macular edema classification, the sensitivity and specificity were 96.43% and 96.55%, respectively. In the age-related macular degeneration classification, the sensitivity and specificity were 77.55% and 95.74%, respectively. Meanwhile, it also plays a role in screening common fundus diseases such as pathological myopia, cataract and glaucoma. Conclusion: The AI-aided remote screening system has high sensitivity and specificity for most of fundus diseases, indicating it is promising for fundus diseases screening in primary medical institutions. It is conducive for primary hospitals or community hospitals to carry out the initial diagnosis of fundus diseases, as well as the implementation of graded diagnosis and treatment of ophthalmology, which has reference and promotion significance.
论著

肺炎克雷伯菌性眼内炎在糖尿病人群中的特点及预后分析

Characteristics AND prognosis of Klebsiella pneumoniae endophthalmitis in diabetic patients

:394-399
 
目的:分析肺炎克雷伯菌导致内源性眼内炎在糖尿病患者中的临床特征,总结治疗经验及评估其预后。方法:回顾性病例分析2019年1月至2022年3月期间就诊于山东中医药大学附属眼科医院的肺炎克雷伯菌导致的内源性眼内炎糖尿病患者7例(8眼)。分析其年龄、性别、感染灶来源、就诊时间、治疗前后视力、眼压、裂隙灯检查、眼底检查、眼科B超、治疗方式、感染控制及复发情况。结果:7例患者年龄(63±17.6)岁。男性5例(71.4%),女性2例(28.6%)。术后7眼(87.5%)视力NLP,1眼(12.5%)LogMAR视力0.2。视力与患者就诊时间及就诊时视力有关。6例(85.7%)就诊前发热。8眼(100%)结膜混合充血,1眼(12.5%)前房积脓。7眼(87.5%)行玻璃体切割术联合玻璃体腔注药术,1眼(12.5%)行单纯玻璃体腔注药术。8眼感染均控制,无眼球摘除。随访期间眼压正常,无感染复发。结论:肺炎克雷伯菌是内源性眼内炎的主要致病菌,易在糖尿病人群中发生。发病迅速进展快,早期临床表现不典型易被误诊,其预后和病程的长短及治疗的时机密切相关,尽早地治疗可挽回部分视力。
Objective: To analyze the clinical characteristics of endogenous endophthalmitis caused by Klebsiella pneumoniae in diabetic patients, and summarize the treatment experience and evaluate its prognosis. Methods: A retrospective case analysis was performed on 7 patients (8 eyes) with endogenous endophthalmitis caused by Klebsiella pneumoniae, who were admitted to the Affiliated Eye Hospital of Shandong University of Traditional Chinese Medicine from January 2019 to August 2022. The age, gender, origin of infection, time of treatment, visual acuity before and after treatment, intraocular pressure, slit lamp examination, fundus examination, ophthalmic B-mode ultrasound, treatment methods, infection control and recurrence were analyzed. Results: The mean age of the seven patients was (63±17.6). There were five males (71.4%) and 2 females (28.6%). Postoperative visual acuity was NLP in seven eyes (87.5%) and LogMAR visual acuity was 0.2 in one eye (12.5%). Visual acuity was related to the patient’s visit time and the visual acuity at visit. Six cases (85.7%) had fever before treatment. Fever was a risk factor for Klebsiella pneumoniae endophthalmitis infection. Eight eyes (100%) had mixed conjunctival congestion, and one eye (12.5%) had abscess in the anterior chamber. Seven eyes (87.5%) underwent vitrectomy combined with intravitreal drug injection, and one eye (12.5%) underwent intravitreal drug injection alone. Infections were controlled in all eight eyes without enucleation. Intraocular pressure was normal during the follow-up period, and there was no infection recurrence. Conclusions: Klebsiella pneumoniae is the main pathogen of endogenous endophthalmitis and is prone to occur in people with diabetes. The onset of the disease progresses rapidly. The early clinical manifestations are not typical, and the prognosis is closely related to the duration of the disease and the timing of treatment. Early treatment can restore some vision.
论著

Purtscher样视网膜病变的临床观察

Clinical observation of Purtscher-like retinopathy

:387-393
 
Purtscher样视网膜病变是一种少见的视网膜血管性疾病,该文分析了13例Purtscher样视网膜病变的临床特征。典型的眼底表现包括 Purtscher斑22眼、棉絮斑22眼、视网膜出血13眼、黄斑水肿22眼、视盘水肿12眼和假樱桃红斑10眼。荧光素血管造影异常表现包括毛细血管无灌注区21眼,毛细血管前闭塞22眼。13例患者中有9例使用糖皮质激素、免疫抑制剂,4例使用改善循环、营养神经等治疗。随访2周至5年,4例患者(6眼)在随访期间出现神经上皮萎缩并持续低矫正视力(<0.1)。基于文献回顾,讨论了Purtscher样视网膜视力恢复不佳可能与黄斑水肿及无灌注区形成有关。
Purtscher-like retinopathy is a rare retinal vascular disease. In this study,the clinical characteristics of 13 cases of Purtscher-like retinopathy were analyzed. Typical fundus abnormalities included Purtscher flecken (22 eyes), cotton-wool spots (22 eyes), retinal hemorrhages (13 eyes), macular edema (22 eyes), swelling of optic disk (12 eyes), and falsecherry red spots (10 eyes). The abnomal manifestations of fluorescein angiography included non perfusion area of capillaries (21 eyes), and precapillary occlusion (22 eyes). Among 13 patients, 9 patients were treated with glucocorticoids and immunosuppressive drugs, and 4 patients were treated with circulation-improving and neurotrophic drugs. During the follow-up period of two months to five years, four patients (six eyes) experienced neuroepithelial atrophy and persistent low vision (<0.1). Based on literature review, we proposed that the prognosis of vision in Purtscher-like retinopathy may be associated with macular edema and the formation of capillary non-perfusion.
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.
其他期刊
  • 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
    浏览
  • 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
    浏览
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