目的:利用生物信息学方法分析与葡萄膜恶性黑色素瘤转移相关的非编码RNA,以及它们作为竞争性内源RNA的作用机制。方法:从癌症基因组图谱(The Cancer Genome Atlas,TCGA)数据库下载80例葡萄膜恶性黑色素瘤患者的RNA测序数据和临床资料,采用edgeR算法分析转移与非转移患者组织中差异表达(differentially expressed,DE)的长链非编码RNA(lncRNA)、微小RNA(miR)和mRNA,并构建lncRNA-miR-mRNA的竞争性内源RNA(competing endogenous RNA,ceRNA)调控网络,基因富集分析和通路分析研究网络中mRNA的生物学功能。Kaplan-Meier生存曲线分析ceRNA网络中核心RNA与生存率的关系。结果:从发生远处转移的葡萄膜恶性黑色素瘤样本中,共鉴定出346个上调的mRNA,118个下调的miR和45个上调的lncRNA。其中67个mRNA,7个miR和30个lncRNA相互组合形成616个ceRNA单元,并形成了一个具有181条边线ceRNA网络。基因富集分析表明:网络中的mRNA富集在肿瘤生成和转移相关的几个基因本体(Gene Ontology)和信号通路。拓扑分析确定了6个核心lncRNA(LINC00861、LINC02421、BHLHE40-AS1、LINC01252、LINC00513和LINC02389)和3个核心mRNA(UNC5D、BCL11B和MTDH)。 所有核心lncRNA、核心mRNA的表达水平和5个miR(miR-221、miR-222、miR-506、miR-507、miR-876)的表达水平均与总体生存率显着相关(均P<0.05)。结论:本研究揭示了几种lncRNA及其相关的ceRNA网络在葡萄膜恶性黑色素瘤转移中的作用,为进一步研究葡萄膜恶性黑色素瘤的发生和/或转移提供了新的方向。
Objective: To elucidate the expression of long non-coding RNAs (lncRNAs) and their roles as competing endogenous RNAs (ceRNAs) in uveal melanoma (UM) metastasis. Methods: RNA sequencing data and clinical information of 80 patients with UM were obtained from The Cancer Genome Atlas (TCGA) database. Differentially expressed (DE) mRNAs, microRNAs (miR), and lncRNAs between metastatic and non-metastatic individuals with UM were screened using the edgeR algorithm. Gene enrichment analysis was conducted for the DE mRNAs. LncRNA-miR-mRNA regulatory triples and a ceRNA network were constructed. Betweenness centrality was used to screen hub genes and lncRNAs for subnetwork analysis. Kaplan-Meier survival analysis was conducted to explore correlations between the expression of hub RNAs and overall survival in the TCGA UM cohort. Results: A total of 346 upregulated mRNAs, 118 downregulated miRs, and 45 upregulated lncRNAs were identified in samples with systemic metastasis. Among them, 67 mRNAs, 7 miRs, and 30 lncRNAs mapped to 616 ceRNA triples, thus forming an interconnected ceRNA network with 181 edges. Gene enrichment analysis revealed that mRNAs in the network were enriched in multiple gene ontology terms and pathways associated with carcinogenesis and metastasis. Topological analysis identified 6 hub lncRNAs (LINC00861, LINC02421, BHLHE40-AS1, LINC01252, LINC00513, and LINC02389) and 3 hub mRNAs (UNC5D, BCL11B, and MTDH). The expression levels of all hub genes and 5 DEmiRs (miR-221, miR-222, miR-506, miR-507, miR-876) were significantly associated with the overall survival probability. Conclusion: This bioinformatic study revealed the functions of several lncRNAs and their associated ceRNA network in UM metastasis. It provides a novel in silicon evidence for future experimental study on the pathogenesis of systemic metastasis in uveal melanoma, especially from the perspective of non-coding RNA.
当前,药物临床试验面临着两大难题:数据真实性及相关人员操作规范性。现阶段国内外在药物临床试验方面的监管主要以事后监查为主,在数据质量管理以及操作规划标准的监查方面存在一定的时延性。而区块链通过非对称加密、哈希算法及智能合约等技术,可以在保证受试者隐私信息的前提下,提高政府相关监督机构的监管效率,提升药物临床试验数据管理的透明度;同时,与物联网的紧密结合可以实现对标准操作规范的进一步核查,与人工智能的结合有望实现受试者的自动招募。
Clinical drug trials are confronted with two major issues: first, data authenticity, for instance, if any data falsification is conducted during the whole trial; second, whether the standard of procedure is accordingly conducted throughout the whole trial or not. Currently, both domestic and overseas clinical drug trials are not supervised without delay (ex-post inspection). Blockchain technology can improve the efficiency of Food and Drug Administration and the transparency of trials while the rights and safety of human research subjects are guaranteed by the integrated technology such as chained structure, asymmetry key algorithm, hash algorithm, and smart contract. Furthermore, with the assistance of internet of things (IoT) and artificial intelligence (AI), the actual supervision over the whole trial and automatic recruitment of human research subjects are expected to achieve.
糖尿病视网膜病变(diabetic retinopathy,DR)是世界范围内劳动年龄人口视力损伤的主要原因。糖尿病前期和DR临床前期患者作为罹患DR的高危人群,在该阶段可发现视网膜神经元形态功能及视网膜微小血管的改变。视网膜及神经纤维层厚度的变化可部分反映视网膜神经元结构改变;色觉、对比敏感度、视野及视觉电生理等变化可反映视网膜神经元功能改变。随着光学相关断层扫描血管成像技术的发展,临床可以检测出DR之前视网膜微血管的改变。此外,许多生物标志物也可以预测和评估DR。由于目前还没有方法可以阻止DR的发生与进展,临床可以通过观察以上视网膜的改变更为及时地发现DR,以降低其患病率,最大限度地减少DR带来的视力损伤。
Diabetes retinopathy (DR) is the main cause of visual impairment in the working population worldwide. Patients with pre-diabetes and pre-clinic diabetic retinopathy are regarded as in high risk group of DR. The changes in morphology and function of renal neurons and retinal micro-vessels can be found in these patients at this stage. The changes of retinal nerve structure can be partly reflected by changes in the thickness of retina and nerve fiber layer. The changes in function of retinal neurons can be reflected by changes in color vision, contrast sensitivity, visual field and visual electrophysiology.With the development of optical coherence tomography angiography, changes in retinal micro-vessels can be observed prior to clinical detection of DR. In addition, many biomarker can also predict and evaluate DR. Since there is no way to prevent the occurrence and progress of DR at present, more attention should be paid in DR by observing the changes inthe retina mentioned above timely, to reduce its incidence and minimize the visual damage caused by DR.
近年来随着人口老龄化的发展、人群用眼方式的改变,现有的眼科医疗资源正越来越难以满足日渐增长的医疗需求,亟需新型的诊疗模式予以补足。眼科人工智能作为眼科领域的新兴元素,在眼病的筛查诊断中发展迅速,主要表现为“眼部图像数据+人工智能”的模式。近年来,随着该模式在白内障、青光眼、糖尿病性视网膜病变(diabetic retinopathy,DR)等常见病中研究的深入,相关技术日渐成熟,表现出了较大的应用优势与应用前景,部分技术甚至成功转化并被逐渐应用于临床。眼科诊疗向智慧医学模式的过渡,有望缓解日益增长的医疗需求与紧缺的医疗资源之间的矛盾,从而提高整体的医疗服务水平。
The development of population aging and changes in the way people use their eyes over the recent years have increasingly challenged the existing ophthalmic medical resources to meet the growing medical needs, thus urgently calling for a novel diagnostic and treatment mode. Despite its status as an emerging sector in ophthalmology, ophthalmic artificial intelligence has developed rapidly in the screening and diagnosis of eye diseases, as can be seen in practices adopting the “eye imaging data + AI” mode. In recent years, with the intensified research on this mode with respect to common diseases such as cataract, glaucoma and diabetic retinopathy, relevant technologies have grown increasingly mature, presenting undeniable application superiority and prospects. Some of the relevant technical achievements have also been successfully transformed for practical usage, and are gradually being applied to clinical practices. Ophthalmic diagnosis and treatment are transitioning toward the era of intelligent medical services, which are expected to reduce the contradictions between the growing medical needs and the shortage of medical resources, as well as ultimately improve the overall experience of medical services.
目的:初步评价折叠顶压球囊(foldable capsule buckle,FCB)治疗孔源性视网膜脱离(rhegmatogenous retinaldetachment,RRD)的有效性、安全性以及手术可操作性。方法:裂孔位置距角膜缘后≥15 mm的采用前瞻性临床病例研究。选择2020年3月至2021年9月在济南明水眼科医院院行FCB植入术治疗裂孔位置距角膜缘后≥15 mm的10例RRD患者(10眼)。应用眼部B型超声、眼底照相评价手术效果。根据术后有无FCB是否暴露、复视情况、排斥反应、眼球运动障碍等术后并发症的发生情况评价手术的疗效和安全性。结果:随访6个月~2年。10例RRD患者在术后通过眼部B超、眼底照相及光学相干断层扫描(opticalcoherence tomography,OCT)评估视网膜均复位。1例合并黄斑区视网膜脱离的患者视力提高。9例患者术后出现复视,术后1~3个月复视消失,1例在术后4个月仍存在复视,行FCB取出,术后视网膜未出现再脱离,复视症状消失。结论:初步研究可确定折叠顶压球囊植入治疗裂孔位置比较靠后(距角膜缘后≥15 mm)且传统巩膜扣带术操作难度大的孔源性视网膜脱离安全、有效,对眼球损伤小,易于操作。
Objective: To preliminarily evaluate the effectiveness, safety and surgical operability of foldable capsule buckle (FCB) in the treatment of rhegmatogenous retinal detachment (RRD). Methods: It is a prospective clinical case study. Ten patients (10 eyes), with a distance of ≥ 15 mm from the posterior margin of the angular membrane at the location of the fissure, who underwent FCB implantation surgery for RRD at Jinan Mingshui Ophthalmology Hospital from March 2020 to September 2021 were enrolled. The surgical outcome was evaluated by B-ultrasound, fundus photography and optical coherence tomography (OCT). The surgical efficay and safety were evaluated by the postoperative complications, such as FCB exposure, diplopia, rejection, and eye movement limitation. Results: The mean follow-up time was 1 year (6 months to 2 years). Retinal reattachment was evaluated by B-ultrasound, fundus photography and OCT after operation in 10 patients. One patient with macular retinal detachment had improved visual acuity. 9 patients developed diplopia after operation, but diplopia disappears 1-3 months after operation. One patient still had diplopia 4 months after operation, and FCB was removed 4 months after operation. No retinal detachment occurred after operation, and the symptoms of diplopia disappeared.Conclusion: It is confirmed by this preliminary research that the implantation of the foldable capsule buckle is safe and effective to treat rhegmatogenous retinal detachment with a relatively posterior position (≥15 mm from the back of the corneal limbus) with little damage to the ocular and easy to operate, compared with the difficulty and complexity in traditional scleral buckling surgery.
阿尔茨海默病(Alzheimer’s disease,AD)是发生于老年期或老年前期的中枢神经系统退行性病变,以进行性认知功能障碍为特征。随着社会老龄化加剧,AD已成为全球公共卫生问题,亟需研发更敏感、便捷和经济的筛查技术进行早期防控。眼球运动与认知功能密切相关,且眼球运动检查有非侵入性、成本低、检查时间短等优点。研究眼球运动异常和认知功能障碍之间的相关性,有助于研发更简便易操作的认知功能障碍筛查工具。随着人工智能技术的发展,机器学习算法强大的特征提取和计算能力对处理眼球运动检查结果有显著优势。本文对既往AD患者与眼球运动异常之间的相关性研究进行综述,并对机器学习算法模型辅助下,基于眼球运动异常模式进行认知功能障碍早期筛查技术开发的研究前景予以展望。
Alzheimer’s disease (AD) is a degenerative disease of the central nervous system that occurs in old age or early old age. It is characterized by progressive cognitive dysfunction. With the world population aging, AD has become a global public health problem. The development of a more sensitive, convenient, and economic screening technology for AD is urgently needed. The eye movement function is closely related to cognitive function. Moreover, eye movement examination has advantages including non-invasiveness, low cost, and short examination time. Researches on the correlation between abnormal eye movement and cognitive dysfunction can help to develop a simple and easy-to-use screening tool for cognitive dysfunction. With the development of artificial intelligence technology, the dominant feature extraction and computing capabilities of machine learning algorithms have a significant advantage in processing eye movement inspection results. This article reviews the correlation between AD and eye movement abnormalities aiming to provide the research prospects of early screening technology development for cognitive dysfunction based on abnormal eye movement with the application of machine learning models.
目的:依托最新的第5代移动通信技术(5th generation wireless systems,5G),构建基于眼底图片的5G医疗眼科远程诊断平台,促进医疗资源上下贯通,提升基层服务能力及医疗服务体系整体效能。方法:基于5G时代医院的信息化发展战略,在海南省卫生健康委员会的资助与指导下,中山大学中山眼科中心海南眼科医院与中国联通通信集团海南有限公司等进行跨行业、多学科的技术力量研究开发,构建5G条件下的平台建设模块和技术路线,确定远程眼科诊断流程,并在海南省内多地区应用。结果:远程诊断平台运行良好。2020年12月至2021年11月,本研究共在海南省17个地区的186个卫生院中开展,共收集1561例患者眼底病图片数据,筛查阳性例数为185例,检出眼底病总阳性率为11.9%。其中有42例需要转诊治疗,转诊率为23%;143例不需要转诊治疗,非转诊率为77%。在1561例眼底图像中,采集异常的眼底图像有490例。排除490例异常眼底图像后,辅助诊断系统与人工诊断结果有1 002张眼底图像诊断相同,69张眼底图像诊断不同,其辅助诊断系统准确率为93.3%。结论:5G移动通信与远程医学影像结合,运用互联网科技催生新型医疗生产力,提高卫生经济的质量和效率,是医疗领域探索5G应用场景的一项应用典范。
Objective: Relying on the latest 5th generation wireless systems (5G), a remote primary ophthalmology care diagnosis platform based on fundus images was constructed in order to promote the connectivity of medical resources and improve the primary health service capabilities and the overall effectiveness of the medical service system. Methods: Based on the 5G informatization development strategy of hospitals, and under the funding and guidance of the Hainan Provincial Health Commission, the Hainan Eye Hospital of Zhongshan Ophthalmic Center and China Unicom Communications Group Hainan Co., Ltd. conducted a cross-industry, multi-disciplinary technical research. To build platform construction modules and technical routes under 5G networks, present the remote ophthalmological diagnosis process, and apply it in many regions in Hainan Province. Results: The performance of the remote diagnosis platform is well. From December 2020 to November 2021, this study was carried out in 186 health centers in 17 regions of Hainan Province. A total of 1 561 patients with fundus disease image data were collected. The number of positive screening fundus disease cases was 185. The total positive rate was 11.9%. Among them, 42 cases required referral for treatment, with a referral rate of 23%, and 143 cases did not require referral for treatment, with a non-referral rate of 77%. Among 1 561 cases of fundus images, 490 fundus images were excluded due to abnormal quality. Compared the results of the diagnosis platform system with manual diagnosis, 1 002 fundus images were identical, and 69 fundus images were different in diagnosis. The accuracy of the auxiliary diagnosis system was 93.3%. Conclusions: The collaboration of 5G mobile communication and telemedicine imaging, combined with internet technology to promote new medical productivity, improve quality and efficiency of the health economy. This study is an application model for exploring 5G application scenarios in the medical field.
全身疾病通过一定途径累及眼球,产生眼部病变,这些眼部病变的严重程度与全身疾病的进展密切相关。人工智能(artificial intelligence,AI)通过识别眼部病变,可以实现对全身疾病的评估,从而实现全身疾病早期诊断。检测巩膜黄染程度可评估黄疸;检测眼球后动脉血流动力学可评估肝硬化;检测视盘水肿,黄斑变性可评估慢性肾病(chronic kidney disease,CKD)进展;检测眼底血管损伤可评估糖尿病、高血压、动脉粥样硬化。临床医生可以通过眼部影像评估全身疾病的风险,其准确度依赖于临床医生的经验水平,而AI识别眼部病变评估全身疾病的准确度可与临床医生相媲美,在联合多种检测指标后,AI模型的特异性与敏感度均可得到显著提升,因此,充分利用AI可实现全身疾病的早诊早治。
Systemic diseases affect eyeballs through certain ways, resulting in eye diseases; The severity of eye diseases is closely related to the progress of systemic diseases. By identifying eye diseases, artificial intelligence (AI) can assess systemic diseases, so as to make early diagnosis of systemic diseases. For example, detection of the degree of icteric sclera can be used to assess jaundice. Detection of the hemodynamics of posterior eyeball can be used to evaluate cirrhosis. Detection of optic disc edema and macular degeneration can be used to evaluate the progress of chronic kidney disease (CKD). Detection of ocular fundus vascular injury can be used to assess diabetes, hypertension and atherosclerosis. Clinicians can estimate the risk of systemic diseases through eye images, and its accuracy depends on the experience level of clinicians, while the accuracy of AI in identifying eye diseases and evaluating systemic diseases can be comparable to clinicians. After combining various detection indexes, the specificity and sensitivity of AI model can be significantly improved, so early diagnosis and early treatment of systemic diseases can be realized by making full use of AI.
随着人工智能(artificial intelligence,AI)技术的快速发展,其在医疗领域的应用正带来革命性的变化。白内障作为全球范围内最常见的可逆性视力障碍之一,在管理和治疗方面依然存在着医疗资源不足、诊断精度低、转诊效率低等诸多实际问题。因此,利用AI技术强大的计算分析和智能决策能力,优化传统医疗实践方式,对于保障人们的视觉健康至关重要。该文探讨AI技术在推动白内障分级诊疗新模式方面的应用,包括白内障图像自动分析与识别、远程医疗和转诊支持等,这些应用能够为白内障患者、社会以及政府带来多方面的显著益处和重要影响,有助于提高白内障诊断和治疗效率,缓解医疗资源不均衡问题,优化医疗资源的配置和管理,推动社会健康进步。然而,AI技术的实际应用也面临风险和挑战,应当充分重视和保护患者数据隐私和安全,建立严格的监管和监督机制,并持续加强技术创新,全面评估AI算法的鲁棒性、公平性和可解释性,以进一步提高AI系统的准确度和可信度。
With the rapid development of artificial intelligence (AI) technology, its application in the field of healthcare is bringing revolutionary changes. Cataracts, as one of the most common reversible visual impairments worldwide, still face many practical issues in terms of limited medical resources, low diagnostic accuracy, and low referral efficiency. Therefore, it is crucial to utilize AI technology's powerful computational analysis and intelligent decision-making capabilities to optimize traditional medical practices and safeguard people's visual health.This article investigates the applications of AI technology on a new model of hierarchic diagnosis and treatment for cataracts, including automatic analysis and recognition of cataract images, remote healthcare, and referral support. These applications can bring significant benefits and important impacts to cataract patients, society, and governments. They can help improve the efficiency of cataract diagnosis and treatment, alleviate the imbalance of medical resources, optimize the allocation and management of healthcare resources, and promote societal health progress.However, the practical application of AI technology also faces risks and challenges. It is important to fully prioritize and protect patients' data privacy and security by establishing strict regulatory and oversight mechanisms. Additionally, continuous efforts should be made to enhance technological innovation and comprehensively evaluate the robustness, fairness, and interpretability of AI algorithms to further improve the accuracy and trustworthiness of AI systems.
据统计,目前全球有近14亿近视人口,近视已成为全球主要的健康问题。近视不仅影响个人的视力健康,还可能引发多种严重的并发症,如高度近视相关的黄斑变性和视网膜脱离等,严重时可导致失明。除了对个人健康的影响,近视还带来了巨大的经济负担,包括直接医疗成本(如眼镜、隐形眼镜、矫正手术等费用)和间接成本(如生产力下降、学习能力降低和生活质量的下降)。在中国,近视的问题尤其显著,近视患病率居高不下,这不仅对个人健康构成威胁,也对社会和经济造成重大影响。国际上,近视的经济负担研究涵盖了医疗直接成本、患者时间成本及生产力损失等方面,可以帮助政府和卫生部门了解近视疾病的经济影响,从而制定合理的公共卫生政策和资源分配策略,优化医疗资源使用,减少社会成本。该文从近视疾病经济负担的构成及其测算方式、国内外经济负担现况等方面对近视疾病经济负担进行简要综述,旨在提供一个关于近视疾病经济负担的综合性认识,指出当前研究的方向和成果,以及预防近视和减轻其经济负担的重要性,为未来研究提供方向和基础。
It is estimated that there are nearly 1.4 billion myopic people in the world, and myopia becomes a significant global health problem. Myopia not only affects visual health, but also leads to serious complications such as macular degeneration and retinal detachment, which can cause blindness in severe cases. Apart from its impact on health, myopia also imposes a substantial economic burden. This burden includes direct medical costs (e.g., expenses for eyeglasses, contact lenses, and corrective surgeries) as well as indirect costs (e.g., reduced productivity, learning abilities, and quality of life). The prevalence of myopia is particularly high in China, posing a threat not only to individual health, but also to society and the economy. International studies on the economic burden of myopia have examined the direct medical costs, patient time costs and productivity loss. These studies help governments and health authorities understand the economic impact of myopia to develop effective public health and resource allocation strategies.. By optimizing medical resources and reducing social costs, these measures aim to alleviate the economic burden. This article provides an overview of the economic burden of myopia, including its definition, measurement, current status at home and abroad, and the importance of prevention and alleviation. It also highlights the current research directions and findings, to provide focusing fields and foundations for future research.