2024年1月 第39卷 第1期

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
论著

基于微信平台的信息管理系统在眼遗传病临床基因检测中的应用

Application of information management system based on Wechat platform in clinical genetic testing for ophthalmic genetic diseases

:1-10
 
目的:利用信息化手段,优化眼遗传病患者的随访途径,降低病历资料缺失率,助力临床检验科室高效运营。方法:通过态势分析法搜集需求,基于微信公众号平台“中山大学眼科医院小儿遗传”,搭建眼遗传病信息管理系统。根据是否使用眼遗传病信息管理系统、是否受到人员流动限制,将2017年7月1日—2023年11月30日来院进行基因检测的患者分为四组:传统组、传统+人流限制组、微信组和微信+人流限制组,通过χ2检验对眼遗传病信息管理系统进行性能评价。结果:源软件架设在阿里云电子政务平台的眼遗传病信息管理系统,通过加密通讯与医院网络交互。系统主要分为基因检测业务、数据管理和系统管理三大模块。使用该系统的患者或亲属可以在任意时间和地点,自主上传病历资料、签署知情同意书、查询基因检测报告,如有需要还能进行一对一的沟通实现长期随访。在此过程中,患者的临床信息实现数字化。研究共纳入10 662例患者对该系统进行性能评价,使用眼遗传病信息管理系统后,患者病历资料缺失率显著降低,由12.2%(传统+人流限制组)降至2.7%(微信+人流限制组);患者二次来访率由最高的70%(传统组)降至最低的11.7%(微信组);两类比较差异有统计学意义(P<0.001)。结论:眼遗传病信息管理系统的使用显著降低患者病历资料缺失率和眼遗传病患者的二次来访率。
Objective: To optimize the follow-up approach for patients with ophthalmic genetic diseases through informational technology, reduce the loss rate of cases, and facilitate the efficient operation of the clinical laboratory. Methods: Using the SWOT analysis method to collect requirements, ‘Pediatric Genetics of Zhongshan Ophthalmic Center’, an ophthalmic genetics information management system for ophthalmic genetic diseases was established on the Wechat public platform. Based on whether the ophthalmic genetic disease information management system was used and there were personnel mobility restrictions, patients who underwent genetic testing in the hospital for genetic testing from July 1, 2017, to November 30, 2023, were divided into four groups: traditional group, traditional+ lockdown group, Wechat+ lockdown group, and Wechat group. Te chi-square test was used to evaluate the performance of the ophthalmic genetic information management system. Results:The ophthalmic genetic disease information management system, which is based on open-source sofware and hosted on the Alibaba Cloud e-government platform, interacts with the hospital network through encrypted communication. Te system was divided into three modules: gene detection business, data management, and system management. By the system, patients or relatives can upload medical records, sign informed consent, inquire about genetic test reports at any time and anywhere, and conduct one-on-one communication to achieve long-term follow-up if necessary. In this process, the patient's clinical information was digitized. A total of 10,662 patients were included in the study to evaluate the performance of the system. The loss rate of cases was decreased from 12.2%to 2.7%, and the rate of second visits was reduced from 70% to 11.7%, which were statistically different, respectively (P< 0.001). Conclusion: Te application of the ophthalmic genetic information management system has signifcantly reduced the loss rate of cases and the rate of second visits in patients with ophthalmic genetic diseases.

干眼患者自我护理能力水平现状及其影响因素研究

Research on self-care ability of patients with dry eye disease and analysis of its influencing factors

:11-18
 
目的:了解干眼患者自我护理能力水平并分析其影响因素。方法:选取2022年2月—6月在中山大学中山眼科中心就诊的干眼患者为研究对象,采用一般资料调查表、自我护理能力量表、一般自我效能感量表对患者进行调查分析。结果:共调查293例干眼患者,其自我护理能力评分为(113.34±9.98)分,处于中等水平。相关性分析中干眼患者的自我护理能力总分与自我效能感得分呈正相关(r=0.421,P<0.001),多重线性回归分析显示,累计屏幕使用时间>10 h/d、合并全身疾病、低自我效能感评分是干眼患者自我护理能力的危险因素(P<0.05)。结论:干眼患者自我护理能力水平处于中水平,仍需加强。医护工作者在工作中应重点关注屏幕使用时间长、合并全身疾病及自我效能感低的患者,并制定相应的护理对策,以改善患者的自我护理能力水平。
Objective: To understand the self-care ability of patients with dry eye and analyze its infuencing factors. Methods: A total of 293 patients with dry eye were selected from Zhongshan Ophthalmic Center, Sun Yat-sen University from February 2022 to June 2022, the general data Questionnaire the general self-efcacy scale, and the self-care ability scale survey were collected. Results: A total of 293 patients with dry eye were surveyed, and the self-care ability score was 113.34±9.98, which was at the medium level. The total score of self-care ability, the scores of self-concept, self-care responsibility, health knowledge level and self-care skills of patients with dry eye were positively correlated with the scores of self-efcacy (r=0.421, all P<0.001).Multiple linear regression analysis showed that cumulative screen usage time>10 hours/day, comorbid systemic diseases, and low self-efficacy scores were risk factors for self-care ability in patients with dry eye (P<0.05). Conclusions: Te self-care ability of patients with dry eye disease is at a medium level, and still needs to be strengthened. Medical workers should focus on patients with prolonged screen usage, comorbid systemic diseases, and low self-efficacy in their work, and tailor relevant nursing strategies to improve their self-care abilities.
综述

息肉状脉络膜血管病变发生大出血的危险因素和治疗进展

Risk factors and treatment progress in massive hemorrhage secondary to polypoidal choroidal vasculopathy

:19-26
 
息肉状脉络膜血管病变(polypoidal choroidal vasculopathy,PCV)是亚洲人群中常见的致盲性眼病,发生大出血并发症后严重危害视力且预后差。PCV大出血包括视网膜下出血(subretinal hemorrhage,SRH)和玻璃体积血(vitreous hemorrhage,VH)。SRH的危险因素包括较长病程、簇型PCV、息肉状病灶不消退、合并视网膜色素上皮脱离;其治疗方式包括抗血管内皮生长因子药物、光动力疗法、激光、玻璃体腔注气、眼内注射组织纤溶酶原激活剂、玻璃体切割术或联合治疗等方式,其中,黄斑中心凹是否受累和出血时间是影响治疗方式选择的主要因素。发病年龄较大、白细胞计数较高、天门氨酸转移酶和丙氨酸转氨酶的比值较高、活化部分凝血活酶时间较长、曾行光动力疗法、有玻璃体腔注药治疗史、SRH面积大、出现视网膜色素上皮脱离的PCV患者发生VH的风险高。浓厚的VH通常需行玻璃体切割术,其手术时机和手术方式的选择是临床关注的焦点。鉴于目前PCV大出血的危险因素尚不完全明确、治疗方面也尚未形成共识,需要开展相关临床研究,提供更多依据。
Polypoidal choroidal vasculopathy (PCV) is a common blinding disease in Asian populations. Massive hemorrhage complications secondary to PCV include subretinal hemorrhage (SRH) and vitreous hemorrhage (VH). The risk factors for SRH include a long duration, clustered PCV, non-regression of polyp lesions and presented with retinal pigment epithelial detachment. The treatments for SRH include anti-vascular endothelial growth factor drugs, photodynamic therapy, laser, vitreous pneumatic displacement, intravenously injected tissue plasminogen activator, vitrectomy and combination therapy. Whether macular fovea is involved and the time since bleeding onset are the main factors afecting the choice of treatment for SRH. Older age of onset, higher white blood cell count, higher aspartate amino transferase and alanine amino transferase ratio, longer activated partial thromboplastin time retinal pigment epithelium detachment, photodynamic therapy history, intravitreal injection history larger SRH area and presented with retinal pigment epithelial detachment were associated with higher risk of VH. PCV patients with massive VH should be treated with vitrectomy, while the timing and technique of operation should be paid atention to. At present, the risk factors of PCV massive bleeding are not completely clear, and its treatment methods are diverse, which requires a large number of studies to prove its effectiveness and establish expert diagnosis and treatment consensus.

mTOR 在眼科疾病中的研究进展

Progress on mTOR in eye diseases

:27-36
 
哺乳动物雷帕霉素靶蛋白(mammalian target of rapamycin,mTOR)是一种蛋白激酶,在体内主要参与营养水平、生长代谢的调节。mTOR是癌症、衰老和其他代谢相关病理性疾病的重要靶点,参与了增殖、转分化、自噬等多种生物学过程。眼被认为是具有免疫特权的区域,由于血管系统会影响视力,眼的血管系统位于中心光路以外。眼的许多区域都有将免疫细胞运输至发育不良、受损或衰老有关的病变部位的机制。尽管免疫应答主要是为了修复或保护自身,但是免疫细胞可能会分泌一些细胞因子,导致炎症或纤维化,进而损害视力。研究证实,mTOR与翼状胬肉、年龄相关性黄斑变性(age-related macular degeneration,AMD)、青光眼、白内障、糖尿病视网膜病变(diabetic retinopathy,DR)、眼部肿瘤等多种眼病密切相关。目前,mTOR抑制剂通常被用作免疫抑制剂,用于癌症的治疗,但mTOR抑制剂用于眼部疾病的报道尚少。因此,该文就mTOR信号通路在相关眼科疾病中的作用、调控机制、药物治疗等方面进行简要综述,为相关眼科疾病的病理机制与治疗提供思路,以便后续开展更深入的研究。
Mammalian target protein of rapamycin (mTOR) is a protein kinase that primarily involves in the regulation of nutrient levels andgrowth metabolism in vivo. mTOR serves as a crucial target for cancer, aging, and other metabolic related pathological diseases, participating in various biological processes such as proliferation, transdifferentiation, and autophagy. Te eye is considered an area with immune privilege, as the vascular system afects vision and is located outside the central light path. Many areas of the eye have mechanisms for transporting immune cells to the afected areas related to developmental, damaged, or aging. Although the immune response is primarily aimed at reparing or protecting itself, immune cells may secrete some cytokines, leading to infammation or fbrosis, which in turn can damage vision. Results from studies have confirmed that mTOR is closely related to pterygium, age-related macular degeneration (AMD), glaucoma, cataract, diabetic retinopathy (DR), eye tumors and other eye diseases. Currently, mTOR inhibitors are widely used as immunosuppressants and approved for cancer treatment; however, there are few reports on the use of mTOR inhibitors for eye diseases. Therefore, in the article it provides a brief overview of the role, regulatory mechanisms, and drug treatment of the mTOR signaling pathway in related ophthalmic diseases, providing ideas for the pathological mechanisms and treatment of related ophthalmic diseases, in order to carry out more in-depth research in the future.

铁死亡及铁代谢途径与视网膜退行性疾病研究进展

Research progress on ferroptosis and iron metabolism pathways in retinal degenerative diseases

:37-43
 
铁死亡是一种以铁沉积和脂质过氧化为主要特征的新型细胞死亡方式,目前在眼科方面的研究不断深入。视网膜因其本身功能和结构特点,易受到氧化应激的影响,而铁死亡已被证明在年龄相关性黄斑变性、青光眼、糖尿病性视网膜病变、视网膜色素变性等视网膜退行性疾病进程中发挥了重要作用。铁代谢途径作为铁死亡的主要调控方式之一,可通过调控细胞内铁稳态,介导芬顿反应形成脂质过氧化物,从而调控细胞铁死亡。转铁蛋白(transferrin,TF)、二价金属转运蛋白1(divalent metal transporter 1,DMT1)、铁蛋白(ferritin,FT)、铁转运蛋白1(ferroportin 1,FPN1)等铁代谢途径关键蛋白涉及细胞内铁离子的摄入、利用、储存、输出等多个方面,对细胞内铁稳态具有重要影响。通过调控铁代谢途径关键蛋白减少铁沉积而抑制铁死亡,可能成为延缓和治疗视网膜退行性疾病的新途径。文章对铁死亡概念、视网膜与铁死亡、铁死亡调控途径、铁代谢途径关键蛋白与视网膜退行性疾病的研究进展进行综述。
Ferroptosis, a novel form of cell death primarily characterized by iron deposition and lipid peroxidation, has been increasingly studied in the feld of ophthalmology. Te retina, due to its specifc functions and structure, is susceptible to oxidative stress. Ferroptosis has been proven to play a crucial role in the progression of retinal degenerative diseases such as age-related macular degeneration, glaucoma, diabetic retinopathy, and retinitis pigmentosa. Te iron metabolism pathway is one of the main regulatory mechanisms of ferroptosis, regulating intracellular iron homeostasis and mediating the formation of lipid peroxides through the Fenton reaction, thereby controlling cellular ferroptosis. Iron metabolism pathways, as one of the main regulatory mechanisms of ferroptosis, can regulate intracellular iron homeostasis and mediate the formation of lipid peroxides through the Fento reaction, thereby controlling cellur ferroptosis. Key proteins involved in iron metabolism pathways, including transferrin (TF), divalent metal transporter 1 (DMT1), ferritin (FT), and ferroportin 1 (FPN1), act as important roles in various aspects such as intracellular iron intake, utilization, storage, and export, exerting signifcant impacts on intracellular iron homeostasis. Regulating key proteins in iron metabolism pathways to reduce iron deposition and inhibiting ferroptosis may emerge aas a novel approach for delaying and treating retinal degenerative diseases. Tis article provides a comprehensive review of the concept of ferroptosis, the relationship between the retina and ferroptosis, the regulatory mechanisms of ferroptosis, and the research progress on key proteins in iron metabolism pathways and retinal degenerative diseases.

基于光学相干断层成像的剥脱综合征和剥脱性青光眼眼底病变研究进展

Research advances in the fundus lesion of exfoliation syndrome and exfoliation glaucoma based on optical coherence tomography

:44-52
 
剥脱综合征(exfoliation syndrome,XFS)以眼内异常纤维样物质沉积为特征,临床典型表现为裂隙灯下瞳孔缘和(或)晶状体前囊膜存在灰白色粉末状的剥脱物(exfoliation material,XFM)。XFM可阻塞小梁网引起剥脱性青光眼(exfoliaiton glaucoma,XFG),并可通过房水循环进入血液,引起血管性损害。眼底病变视力损伤通常不可逆,XFM可进入眼底微血管及毛细血管,引起眼底结构和血管异常。基于光学相干断层成像技术的光学相干断层扫描(optical coherence tomography,OCT)及光学相干断层扫描血管成像(optical coherence tomography angiography,OCTA)以实时、非侵入性、高分辨率等优势,已广泛应用于眼底组织结构及血管病变检查。文章对XFS眼底病变在OCT和OCTA上的表现进行综述。
Exfoliation syndrome (XFS) was characterized by the abnormal deposition of the fber-like material intraocularly, and manifested as white or gray, powdery exfoliation material (XFM) on the pupillary border and (or) anterior lens capsule under slit lamp microscopy. XFM could obstruct the trabecular meshwork and cause exfoliation glaucoma (XFG). In addition, XFM that entered aqueous humor circulation could enter bloodstream and result in vascular damage. XFM could enter ocular fundus microvascular and capillary vessels, causing abnormalities of fundus structures and vessels. Optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA), which were based on optical coherence tomography technology, had the advantages of real-time, non-intrusive and high resolution, et al. OCT and OCTA were widely used in detection of fundus structural and vascular abnormalities. Tis study was to review the fundus lesion of XFS on OCT and OCTA.

原发性翼状胬肉发病机制的研究进展

Research progress on the pathogenesis of primary pterygium

:53-62
 
原发性翼状胬肉是一种上皮下生长的非肿瘤性变性组织,其发病机制主要与紫外线照射有关,然而,原发性翼状胬肉的具体发病机制仍不明确。近年来,随着医学研究的不断深入,研究显示原发性翼状胬肉的发生发展与多种因素息息相关。病毒感染、氧化应激、炎症反应,抑癌基因失活、DNA 甲基化等因素已被证实与翼状胬肉发病机制有关。此外,凋亡和增殖蛋白的失衡、细胞外基质调节剂和上皮-间充质细胞转化等因素也都在原发性翼状胬肉的发病过程中扮演着重要的角色。这些均可能导致细胞生长和分裂的异常,进而诱发翼状胬肉的形成。然而,各个因素之间的相互作用以及它们在发病过程中的具体作用机制仍有待进一步研究。该文中笔者就当前原发性翼状胬肉的发病机制进行评述,深入探究原发性翼状胬肉的发病机制及不同相关因素在原发性翼状胬肉发病过程中的相互作用。了解不同因素在发病过程中的作用,可以为临床提供更加精准、有效的预防和治疗策略提供依据,为患者带来更好的治疗效果和更高生活质量。
Primary pterygium is a non-neoplastic degenerative tissue that grows subepithelially, and its pathogenesis is mainly related to ultraviolet exposure, however, the full mechanism of primary pterygium remains unclear. In recent years, with the development of medical research, it is found that the occurrence and development of primary pterygium are closely related to a variety of factors. Viral infection, oxidative stress, inflammatory response, inactivation of tumor suppressor genes, DNA methylation and other factors have been shown to be involved in the pathogenesis of pterygium. In addition, imbalances of apoptosis and proliferative proteins, extracellular matrix regulators, and epithelial-mesenchymal cell transformation also play important roles in the pathogenesis of primary pterygium. These can lead to abnormal cell growth and division, which in turn induces the formation of pterygium. However, the interaction between these factors and their specific mechanisms of action in the pathogenesis process still need to be further studied. In this article it reviews the current pathogenesis of primary pterygium, and deeply explores the pathogenesis of primary pterygium and the interaction of different related factors in the pathogenesis of primary pterygium. By understanding the role of different factors in the pathogenesis process, we can provide more precise and effective prevention and treatment strategies for clinical practice, and better treatment outcomes and quality of life for patients.
封面简介

息肉状脉络膜血管病变发生大出血的危险因素和治疗进展

Risk factors and treatment progress in massive hemorrhage secondary to polypoidal choroidal vasculopathyting

:-
 
      息肉状脉络膜血管病变(polypoidal choroidal vasculopathy,PCV)是亚洲人群中常见的致盲性眼病,发生大出血并发症后严重危害视力且预后差。PCV大出血包括视网膜下出血(subretinal hemorrhage,SRH)和玻璃体积血(vitreous hemorrhage,VH)。SRH的危险因素包括较长病程、簇型PCV、息肉状病灶不消退、合并视网膜色素上皮脱离;其治疗方式包括抗血管内皮生长因子药物、光动力疗法、激光、玻璃体腔注气、眼内注射组织纤溶酶原激活剂、玻璃体切割术或联合治疗等方式,其中,黄斑中心凹是否受累和出血时间是影响治疗方式选择的主要因素。发病年龄较大、白细胞计数较高、天门氨酸转移酶和丙氨酸转氨酶的比值较高、活化部分凝血活酶时间较长、曾行光动力疗法、有玻璃体腔注药治疗史、SRH面积大、出现视网膜色素上皮脱离的PCV患者发生VH的风险高。浓厚的VH通常需行玻璃体切割术,其手术时机和手术方式的选择是临床关注的焦点。鉴于目前PCV大出血的危险因素尚不完全明确、治疗方面也尚未达成共识,需要开展相关临床研究,提供更多依据。
      息肉状脉络膜血管病变(polypoidal choroidal vasculopathy,PCV)是亚洲人群中常见的致盲性眼病,发生大出血并发症后严重危害视力且预后差。PCV大出血包括视网膜下出血(subretinal hemorrhage,SRH)和玻璃体积血(vitreous hemorrhage,VH)。SRH的危险因素包括较长病程、簇型PCV、息肉状病灶不消退、合并视网膜色素上皮脱离;其治疗方式包括抗血管内皮生长因子药物、光动力疗法、激光、玻璃体腔注气、眼内注射组织纤溶酶原激活剂、玻璃体切割术或联合治疗等方式,其中,黄斑中心凹是否受累和出血时间是影响治疗方式选择的主要因素。发病年龄较大、白细胞计数较高、天门氨酸转移酶和丙氨酸转氨酶的比值较高、活化部分凝血活酶时间较长、曾行光动力疗法、有玻璃体腔注药治疗史、SRH面积大、出现视网膜色素上皮脱离的PCV患者发生VH的风险高。浓厚的VH通常需行玻璃体切割术,其手术时机和手术方式的选择是临床关注的焦点。鉴于目前PCV大出血的危险因素尚不完全明确、治疗方面也尚未达成共识,需要开展相关临床研究,提供更多依据。
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
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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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