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 faciliate 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.
综述

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.
BJO专栏

原发性疾病和角膜血管化对角膜移植排斥反应和存活率的差异影响

Differential effects of primary disease and corneal vascularisation on corneal transplant rejection and survival

:715-729
 
目的:旨在研究按移植指征分类以及移植前角膜血管形成对手术后5年内排斥反应和移植物失败率的相对风险。方法:分析1999—2017年间,英国移植登记处记录的所有因圆锥角膜(keratoconus,KC)、人工晶状体大泡性角膜病(pseudophakic bullous keratopathy,PBK)或既往感染(病毒/细菌/真菌/原生动物)而首次进行角膜移植的成年人。统计移植前受体角膜血管化象限的数量、血管化类型、移植后排斥反应的间隔时间(如果有的话)以及移植后5年的结果。通过多变量风险调整Cox回归法进行排斥反应和移植失败的危险因素建模。结果:KC、PBK和感染患者的角膜血管形成率分别为10%、25%和67%。只有当存在浅表和(或)深部血管形成时(HR分别为1.3和1.4,P=0.004),存在两个以上象限的血管形成时,PBK患者移植排斥反应的风险才会增加(HR=1.5,P=0.0004)。因既往感染而接受移植的个体在四个象限的血管形成中发生排斥反应的风险增加(HR=1.6,P=0.003)。在任何一组中,经过风险调整后,与血管形成有关的移植失败率并未上升。对于含有血管的受体角膜,相对于穿透性KC和PBK移植,没有充分的证据显示板层移植在降低排斥反应或失败风险方面存在优势。结论:血管化是5年内角膜移植排斥反应的危险因素。移植的适应证对这种风险的具有临床意义。
Objective: To investigate the relative risk of pretransplant corneal vascularisation on rate of rejection and graft failure within 5 years of surgery when categorised by indication for transplantation. Methods: We analysed all adults recorded in the UK transplant registry who had a first cornea transplant for keratoconus (KC), pseudophakic bullous keratopathy (PBK) or previous infection (viral/bacterial/fungal/protozoan) between 1999 and 2017. We analysed the number of quadrants of the recipient cornea vascularised before transplant and type of vascularisation, the interval posttransplant to rejection, if any, and the outcome at 5 years post-transplant. Risk factors for rejection and transplant failure were modelled by multivariable risk-adjusted Cox regression. Results: Corneal vascularisation was recorded in 10%, 25% and 67% of patients with KC, PBK and infection, respectively. Individuals with PBK had an increased hazard of transplant rejection only when there were more than two quadrants of vascularisation (HR 1.5, p=0.004) when either superficial and/or deep vascularisation was present (HR 1.3 and 1.4, respectively, p=0.004). Individuals who had a transplant for previous infection had an increased hazard of rejection with four quadrants of vascularisation (HR 1.6, p=0.003). There was no risk-adjusted increase in transplant failure associated with vascularisation in any group. There was weak evidence of reduction in risk of rejection and/or failure associated with lamellar compared with penetrating transplantation in KC and PBK in vascularised recipient corneas. Conclusion: Vascularisation is a risk factor for corneal allograft rejection within 5 years. The indication for transplantation has a clinically significant effect on the magnitude of this risk.
论著

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

:1-7
 
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:total of 293 patients with dry eye were selected from Zhongshan University Zhongshan Ophthalmology Center 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, allP<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

原发性干燥综合征相关性干眼在眼科诊疗中的现状及研究进展

Current status and research advances in diagnosis and treatment of primary Sj?gren’s syndrome associated dry eye disease in ophthalmology

:163-169
 
原发性干燥综合征(primary Sj?gren’s syndrome,SS)是一种主要累及外分泌腺体的自身免疫性疾病,患者通常因为严重的干眼症状首先就诊于眼科,大多数临床医师对原发性干燥综合征相关性干眼(Sj?gren’s syndrome dry eye disease,SS-DED)认识不足,可能导致漏诊和误诊。侵入性极小的客观检查及生物标志物的发展,将有助于发现SS-DED的真面目,并可能从新的角度阐释其发病机制,为其诊断、分类及治疗提供新的思路。SS-DED的治疗没有特效的药物,大多数患者需接受多种方法的治疗,以了解哪些方法最有效。
Primary Sj?gren’s syndrome is an autoimmune disease that mainly affects exocrine glands. Patients usually refer to ophthalmologists because of severe dry eye symptoms. Most clinicians have insufficient knowledge with dry eye disease associated with primary Sj?gren’s syndrome probably leading to misdiagnosis or missing the diagnosis.The diagnosis of Sj?gren’s syndrome dry eye disease (SS-DED) is difficult, but the extremely invasive objective examination and the development of biomarkers will help to understand this disease and explain its pathogenesis from a new perspective. There is no specific treatment for the SS-DED, and most patients should receive multiple treatments to select the optimal treatment.
综述

miR-26b 在眼科疾病中的研究进展

Research progress of miR-26b in ophthalmic diseases

:535-540
 
微RNA-26b(microRNA-26b,miR-26b)是miR-26家族中的一员,作为基因表达调控因子,在细胞代谢、增殖、分化、凋亡、自噬、侵袭、转移等生物学过程中均发挥着重要的调控作用。近年来,随着对miR-26b研究的深入,研究者认识到miR-26b稳定存在于角膜、结膜上皮、晶状体、睫状体、小梁网、房水、玻璃体和视网膜等眼部组织中,且有越来越多的研究证实miR-26b在眼科疾病,例如翼状胬肉、白内障、增生性玻璃体视网膜病变、增生型糖尿病视网膜病变、年龄相关性黄斑变性等疾病的发生和发展中有着重要的调控作用。该文对近年miR-26b在眼科疾病方面的研究进行了综述,为探讨miR-26b在眼科疾病中发挥作用过程中的分子机制提供理论基础。
MicroRNA-26b (miR-26b) is a member of the miRNA-26 family. As a gene expression regulator, it plays an important regulatory role in biological processes such as cell metabolism, proliferation, differentiation, apoptosis, autophagy,invasion and metastasis. In recent years, with the in-depth study on miR-26b, researchers found that miR-26b stably exists in the cornea, conjunctival epithelium, lens, ciliary body, trabecular meshwork, aqueous humor, vitreous, retina and other ocular tissues. More study results confirmed that miR-26b acted on eye diseases, and played an important regulatory role in diseases occurrence and development, such as pterygium, cataract, proliferative vitreo retinopathy,proliferative diabetic retinopathy, age-related macular degeneration, etc. This article reviews the research progress of miR-26b in eye diseases recently, to provide a theoretical basis on molecular mechanisms involving in the role of miR-26b in eye diseases.
眼科药学专题

大麻二酚在眼部疾病中的应用前景

The application prospect of cannabidiol in eye diseases

:497-503
 
大麻二酚(Cannabidiol,CBD)为大麻提取物中的一种非成瘾性活性成分,是目前研究最热门的植物源性大麻素之一。内源性大麻素系统(endocannabinoid system,ECS)在眼表和视网膜中的研究也已经取得显著进展。CBD可以广泛存在于整个眼球,且其分布和功能具有组织特异性。近年来研究发现CBD具有良好的抗炎、抗损伤、降低眼压及神经保护作用。该文详细介绍了CBD在眼部疾病中的研究进展,以及其对各种眼部疾病的治疗潜力。此外,还讨论了CBD在临床眼科治疗中的应用面临的挑战和未来的发展方向。
Cannabidiol(CBD), a non-addictive active ingredient in cannabis extract, is one of the most popular plant-derived cannabinoids. The study on the endoenuous cannabionoid system (ESC) has made significant progress in the ocular surface and retina. CBD exists extensively in the eyeball, and its distrution and functions of anti-inflammatory,antiinjury, reducing intraocular pressure, and neuroprotective effects have been found. This article introduces the research progress in CBD in eye diseases and the therapeutic potential of cannabidiol for various eye diseases in detailed.Furthermore, the challenges and prospect for the application of CBD in clinical ophthalmology were discussed.
论著

眼病儿童手术前家长的健康教育需求调查

Investigation on health education needs of parents of children with eye diseases before operation

:798-803
 
目的:调查眼病患儿家长在患儿手术前的健康教育需求,为责任护士开展个性化、高质量的健康教育提供依据。方法:采用自制的眼病儿童手术前家长的健康教育需求调查问卷对2020年4月至2020年6月的眼病手术患儿家长进行问卷调查,并对调查结果进行统计分析。结果:家长对眼病患儿手术术前健康教育需求排名前3位的是手术治疗的效果、意义及眼病相关专科健康知识。医疗付费方式的差异、患儿年龄、疾病的差异及家长年龄、职业状态的差异对术前健康教育需求得分差异有统计学意义(P<0.05);家长获取健康教育知识的途径以医务人员讲解和公众号等网络平台为主。结论:眼病患儿家长对患儿术前健康教育需求较高,医务工作者应丰富知识层面,加强专科学习及相关知识培训,把专科知识与健康教育有机地结合,并探索有效的线上健康教育方式,更好地为患者服务。
Objective: To investigate the health education needs of parents of children with eye diseases before operation, and to provide basis for more targeted and high-quality health education for primary nurses. Methods: A self-made questionnaire was used to investigate the health education needs of parents of children with ophthalmopathy before surgery from April 2020 to June 2020, and the results were statistically analyzed. Results: The top three of parents’ needs for preoperative health education of children with eye diseases were the effect and significance of the surgery and the related professional health knowledge of eye diseases. The differences of medical payment methods, children’s age, diseases, parents’ age, and occupational status was significant in the scores of preoperative health education needs (P<0.05). The main ways of parents obtaining health education knowledge were network platforms such as medical staff explanation and official accounts. Conclusion: The parents of children with eye diseases have a high demand for preoperative health education. Medical workers should enrich their knowledge, strengthen specialty learning and related knowledge training, organically combine professional knowledge with health education, and explore the methods of effective online health education to serve patients better.
病例报告

眶、颅沟通性包虫病1例

Orbital and cranial communicating hydatid disease: A case report

:755-761
 
患者女,因左眼睑反复红肿3个月余就诊。眼眶CT检查:左眶前部可见边界清楚的低密度软组织影,病变向眶外上方延伸,通过位于蝶骨大翼与蝶骨嵴交汇处侵蚀性骨孔与颅内病变沟通。颅内可见额叶、颞叶散在分布的团块状高密度病灶。眼眶MRI检查:边界清楚的异常信号病灶从左上睑延伸至眶上方和眶外上方,呈囊性改变。颅内病变呈混杂信号,散在分布于颞叶和额叶。临床诊断为左眼眶、颅沟通性病变。于全身麻醉下行左眼眶病变切除术,术后病理诊断为眼眶棘球蚴囊肿(包虫病)。发生于眶、颅的沟通性包虫病少有报道,本病例提示对于眶、颅沟通性包虫病需要根据病变的性质、位置采取个性化治疗原则,术前影像学检查的判断分析是辅助治疗的重要手段。
A young female patient complained of recurrent redness and swelling of the right eyelid for more than 3 months.Orbital CT examination showed that low density soft tissue density shadow with clear boundary can be seen in the anterior part of the left orbit. The lesion extended to the upper part of the orbit and communicated with the intracranial lesion through the erosive foramen at the intersection of the great wing of the sphenoid bone and the sphenoid ridge. There were massive high-density lesions in the frontal and temporal lobes. MRI examination of orbit showed that the left upper eyelid extended to the upper orbit and the upper extraorbital region. There were cystic signal of the orbit lesion and mixed signals of intracranial scattering in temporal and frontal lobes. The clinical diagnosis was left orbital cranial communicating lesion. The patient underwent orbital tumor resection under general anesthesia and was diagnosed as echinococcosis by postoperative pathology. This case suggests that for orbital cranial communicating echinococcosis, individualized treatment should be adopted according to the nature and location of the lesions, in which imaging examination are important.
专家述评

眼附属器淋巴组织增生性疾病的病理诊断

Pathological diagnosis of ocular adnexal lymphoproliferative disease

:676-683
 
眼附属器淋巴组织增生性疾病作为一类疾病的总称,包括了良性淋巴组织增生、非典型性淋巴组织增生、IgG4相关眼病以及多种恶性淋巴瘤在内的数十种疾病类型。临床诊断此类疾病应将患者眼部体征、影像学检查与病理学检查紧密结合。随着免疫表型及分子病理等检测技术的进步,此类疾病之间的鉴别诊断正逐渐清晰。本文就眼附属器淋巴组织增生性疾病进行系统性描述,并重点探讨该类疾病的病理鉴别诊断。
Ocular adnexal lymphoproliferative disease, as a general term, contains reactive lymphoid hyperplasia, atypical lymphoid hyperplasia, IgG4 related ocular disease and malignant lymphoma. The clinical diagnosis of this kind of disease should integrate patient’s symptoms, imaging features and pathology characteristics. Development of immunophenotyping, molecular pathology and other detection technology will help with the differential diagnosis of ocular adnexal lymphoproliferative disease. This article is going to discuss the etiology, epidemiology,diagnosis and treatment of ocular adnexal lymphoproliferative disease, with a focus on the clinicopathological differential diagnosis of such disease.
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
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中山大学