论著

葡萄膜恶性黑色素瘤转移相关的非编码RNA表达谱及竞争性内源RNA调控网络分析

Comprehensive analysis of long non-coding RNAs and competing endogenous RNA network associated with uveal melanoma metastasis

:25-35
 
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.
综述

区块链在药物临床试验中的应用

Application of blockchain technology in clinical drug trial

:46-49
 
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.
论著

基于高通量测序分析鉴别视网膜病变中的神经纤维瘤病

Identification of neurofibromatosis in retinopathy based on high-throughput sequencing analysis

:381-394
 
目的:通过高通量测序分析进行基因诊断,鉴别视网膜病变中的神经纤维瘤病,为其早诊早治提供重要依据。方法:回顾性分析眼遗传病高通量测序数据库中的NF1和NF2基因变异,根据ACMG/AMP指南解析变异致病性;进一步结合患者的临床表型、家族史以及其他检查结果,综合判断明确是否患有神经纤维瘤病,同时进行疾病的进展和随访的研究分析。结果:通过分析不同眼部表型家系的高通量测序结果,共在11例先证者中发现NF1和NF2基因的10个可能致病变异,包括7个NF1变异和3个NF2变异。这11例先证者的初始诊断包括家族性渗出性玻璃体视网膜病变、黄斑/视网膜发育不良、斜视、视网膜色素变性、Coats病和牵牛花综合征等。其中,在1例初诊为家族性渗出性玻璃体视网膜病变的患儿中,检测到3个基因的致病变异,即NF2: c.122G>A/p.(W41*)、RS1: c.520C>T/p.(R174W)和NYX: c.1027C>T/p.(R343C)。随访检查发现,该患儿的复杂眼部表型符合NF2、RS1和NYX致病变异的临床改变,且MRI检查发现双侧前庭神经鞘瘤、脊髓室管膜瘤和多发性神经鞘瘤改变。除该患者外,还有4例患者在随访中发现存在牛奶咖啡斑或雀斑样色素沉着等皮肤改变,1 例合并小脑神经纤维瘤浸润。结论: 高通量测序分析能有效检测出神经纤维瘤病相关基因的变异,有助于筛选非典型表现的神经纤维瘤病,为疾病的早期诊断,尤其是对严重中枢神经系统病变的早期筛查和及时干预,提供了重要依据。
Objective: To identify neurofibromatosis in retinopathy through high-throughput sequencing analysis and provide important indicators for early diagnosis and treatment. Methods: Variants in NF1 and NF2 were selected from in-house high-throughput sequencing, including targeted exome sequencing, exome sequencing and whole genome sequencing, of individuals with different eye conditions. Pathogenic or likely pathogenic variants were assessed according to ACMG/AMP criteria. All the available clinical data, including clinical manifestation, family history and other examination results, were summarized and further analyzed to determine whether neurofibromatosis. Results: Based on the results of in-house high-throughput sequencing, a total of ten pathogenic or likely pathogenic variants in NF1 and NF2 were identified in 11 unrelated cases with various eye conditions, including three NF2 variants in four cases and seven NF1 variants in seven cases. The unrelated cases with NF1 and NF2 variants had initial clinical manifestation similar to familial exudative vitreoretinopathy (FEVR), macular or retinal dystrophy, strabismus, retinitis pigmentosa, Coats disease, or morning glory syndrome. In one of these cases, who was diagnosed as FEVR at the initial visit, three pathogenic variants of three different genes were identified, namely NF2: c.122G>A/p.(W41*), RS1: c.520C>T/p.(R174W) and NYX: c.1027C>T/p.(R343C). Follow-up examination on this case revealed a complex retinopathy, which were consistent with clinical presentations due to pathogenic variants in NF2, RS1, and NYX, as well as bilateral vestibular schwannomas, spinal ependymoma and multiple schwannomas by MRI. In addition to this patient, a follow-up examination on four of the seven cases present Café-au-lait macules or freckling, which could be easily neglected if neurofibromatosis is not realized on the initial visit, while one had neurofibromatosis in cerebellum. Conclusions: Complex retinopathy may present as the initial sign of neurofibromatosis, and high-throughput sequencing analysis for neurofibromatosis related genes contribute to early diagnosis of neurofibromatosis and facilitating early identification of vital systemic complication.
论著

MAB21L2 基因变异致小眼畸形 2 例及 MAB21L1 和 MAB21L2 的基因型 - 表型的系统回顾研究

Two cases of microphthalmia caused by MAB21L2 gene mutation and a systematic review of genotypephenotype associations of MAB21L1 and MAB21L2

:75-83
 
目的:总结MAB21L2基因的变异和临床特点,并与高度同源的MAB21L1基因进行比较。 方法:对中山眼科中心临床基因数据库中MAB21L2基因变异患者进行基因型和表型分析,回顾性分析既往文献报道MAB21L2基因和高度同源基因MAB21L1变异的表型-基因型的关系。结果:在2个小眼畸形家系中发现2个MAB21L2基因杂合变异:先证者1携带已知变异c.151C>G/p.(Arg51Gly),患者双眼小眼畸形伴虹膜脉络膜缺损,伴骨关节屈曲。母亲携带相同杂合变异但表型正常;先证者2携带未报道的变异c.1042G>T/p.(Glu348*),左眼小眼畸形,右眼正常且无全身异常。结合文献回顾发现,在显性遗传模式下,80%的MAB21L2杂合致病变异(20/25)和100%的MAB21L1杂合致病变异(25/25)发生在氨基酸49-52 区域,导致小眼无眼或眼缺损异常(microphthalmia, anophthalmia or coloboma,MAC);携带该区域MAB21L2基因杂合突变的患者除MAC外,部分还伴骨骼关节发育异常(12/24,50%);杂合截短变异发生在MAB21L2基因可导致MAC(5/5,100%),而发生在MAB21L1则不致病。 结论:在2个小眼畸形家系中发现了MAB21L2因1个新致病变异和1个已知热点致病变异,通过文献综述比较和总结了MAB21L1MAB21L2基因的突变频谱以及基因型-表型相互关系,为此类基因缺陷导致遗传病的诊断和鉴别诊断提供依据。
Objective: To summarize the genetic variations and clinical features of the MAB21L2 and compare them with the highly homologous MAB21L1 gene. Methods: A genotype -genotype analysis was performed on the patients with MAB21L2 gene variants in the clinical genetic database of Zhongshan Ophthalmic Center, Sun Yat-sen University. A retrospective review was undertaken to analyze the phenotype-genotype correlations of MAB21L2 gene variants and the highly homologous MAB21L1 gene variants reported in the previous literature. Results: Two heterozygous MAB21L2 gene variants were identified in two families with microphthalmia: Proband 1 carried the known variant c.151C>G/p.(Arg51Gly), presenting with bilateral microphthalmia with iris-choroidal coloboma and flexion of joints. The mother carried the same heterozygous variant but had a normal phenotype. Proband 2 carried the unreported variant c.1042G>T/p.(Glu348*), manifesting as left-sided microphthalmia with a normal right eye and no other systemic abnormalities. Through literature review, we found that under a dominant inheritance pattern, 80% of heterozygous pathogenic MAB21L2 variants (20/25) and 100% of heterozygous pathogenic MAB21L1 variants (25/25) occurred in the amino acid region 49-52, resulting in microphthalmia, anophthalmia, and coloboma (MAC). Some patients with heterozygous MAB21L2 variants in this region exhibited additional skeletal and joint dysplasia (12/24, 50%). Heterozygous truncating variants in MAB21L2 led to MAC (5/5, 100%), while those in MAB21L1 were non-pathogenic. Conclusions: This study identified a novel pathogenic variant and a known hotspot pathogenic variant of MAB21L2 in two families with microphthalmia. Through a comprehensive literature review, we compared and summarized the mutation spectrums and genotype-phenotype correlations of MAB21L1 and MAB21L2 genes, providing valuable insights for the diagnosis and differential diagnosis of genetic diseases caused by these gene defects.
综述

糖尿病前期和糖尿病视网膜病变临床前期的视网膜改变

Retinal changes in pre-diabetes and pre-clinic diabetes retinopathy

:454-460
 
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.
综述

人工智能在眼病筛查和诊断中的研究进展

Research progress of artificial intelligence in screening and diagnosis of eye diseases

:208-213
 
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.
百年校庆

Müller 细胞介导的 IL-17 信号通路与糖尿病视网膜病变之间关系的研究进展

Research progress on the relationship between Müller cell-mediated IL-17 signaling pathway and diabetic retinopathy

:512-519
 
糖尿病视网膜病变(diabetes retinopathy, DR)是糖尿病常见的眼部并发症,其病理过程复杂,涉及多种细胞及炎症因子。Müller细胞作为视网膜主要支持细胞,在DR中不仅产生白介素-17(interleukin-17, IL-17),还作为其主要靶点发挥作用,通过谷氨酸代谢异常、血管内皮生长因子(vascular endothelial growth factor, VEGF)分泌增加及调控参与DR的病理过程,加重炎症反应。IL-17主要由辅助性T细胞17(T helper cell 17, Th17)分泌,通过促进多种炎症介质(如细胞因子、趋化因子和金属蛋白酶)的分泌,增强炎症反应,导致视网膜微血管损害和神经元凋亡,促进DR的发展。高糖环境下,Müller细胞功能受损,IL-17进一步加剧其功能障碍形成恶性循环。研究表明,阻断IL-17及核因子-κB激活剂1(Nuclear factor-kappa B activator 1, Act1)/肿瘤坏死因子受体关联因子6(tumor necrosis factor receptor associated factor 6, TRAF6)/核因子-κB(Nuclear factor-kappa B, NF-κB)信号通路可减轻DR的病理改变,为DR的治疗提供了新的思路。因此,深入研究IL-17与Müller细胞在DR中的相互作用机制,对于研究该疾病的发病机制及开发精准有效的治疗策略具有重要意义。
Diabetes retinopathy (DR) is a common ocular complication of diabetes, characterized by a complex pathological process involving multiple cells and inflammatory factors. Müller cells, as the primary supporting cells of the retina, not only produce interleukin-17 (IL-17) but also serve as a primary target in DR. They participate in the pathological process of DR by contributing to abnormal glutamate metabolism, increased secretion of vascular endothelial growth factor (VEGF), and regulatory functions, thereby exacerbating the inflammatory response. IL-17 is primarily secreted by T helper cell 17 (Th17) cells and enhances the inflammatory response by promoting the secretion of various inflammatory mediators (such as cytokines, chemokines, and metalloproteinases), leading to retinal microvascular damage and neuronal apoptosis, which accelerates the progression of DR. In a high-glucose environment, Müller cell function is impaired, and IL-17 further exacerbates this dysfunction, creating a vicious cycle. Studies have shown that blocking the IL-17 and Act1/TRAF6/NF-κB signaling pathways can mitigate the pathological changes associated with DR, providing new insights for the treatment of this disease. Therefore, conducting in-depth research on the interaction mechanism between IL-17 and Müller cells in DR is of great significance for exploring the pathogenesis of this disease and developing precise and effective treatment strategies.
论著

折叠顶压球囊治疗裂孔位置距角膜缘后≥15mm的孔源性视网膜脱离初步临床观察

Preliminary clinical observation on the treatment of rhegmatogenous retinal detachment with foldable capsule buckle at a distance of ≥ 15 mm from the edge of the corneal membrane

:551-557
 
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.
综述

眼球运动检查在阿尔茨海默病诊断的研究进展

Research progress on eye movement examination in the diagnosis of Alzheimer’s disease

:66-73
 
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.
论著

2018~2022 年某三甲眼科专科医院临床诊疗非手术常规血液检验项目分析

Analysis of non-surgical routine blood test items in clinical diagnosis and treatment at a tertiary ophthalmic specialist hospital from 2018 to 2022

:99-106
 
目的:分析某三甲眼科专科医院近5年临床诊疗涉及非手术常规血液检验项目的申请检测情况,为眼科医师了解检验辅助诊断概况、专科医院的实验室项目管理和开展新项目提供依据。方法:从中山大学中山眼科中心医学检验信息管理系统导出2018年1月1日至2022年12月31日期间到院申请进行血液检测的12 866例门诊患者的22 453份样本(共94 081项检验项目)相关检验记录。将申请检测科室及专科医师按照中华医学会眼科学分会推荐分为10个亚专科,对疾病诊断和检测项目等资料进行统计分析,采用文字、柱状图及折线图的形式进行描述。结果:5年间申请进行血液检测的12 866例门诊患者,男性患者6 356例(49.4%),女性患者6 510例(50.6%)。基于首诊眼病诊断分类,排名前三位的眼病分别为眼整形/眼肿瘤病5 214例 (40.5%)、眼底病 3 487例(27.1%)、角膜病1 711例(13.3%)。申请检测样本量从2018年的3 163份增至2022年的5 903份,总体呈上升趋势。从申请的专科医师分析,眼整形/眼眶病专科医师申请单最多,有6 751份(占30.1%),其中自身免疫性疾病检测所占比例最高,为49.1%,甲状腺疾病相关检测占41.9%;眼免疫专科医师申请检测量为4 214份(占18.8%),以自身免疫性疾病检测为主占55.7%,感染性项目检测占32.5%;眼底病专科医师申请检测量为3 629份(16.2%),其中自身免疫性疾病检测和感染性项目检测分别占47.8%和39.6%;角膜病专科医师申请数为1 436份(占6.4%),其中过敏性疾病检测比例为41.2%。基于一份申请单可同时检测多个项目,眼整形/眼眶专科申请检测总项最多,有33 513项,甲
状腺疾病检测占65.0%;角膜病专科申请16 482项,过敏性疾病检测占83.4%,眼底病专科和眼免疫专科分别为8 794项和8 047项,均以自身免疫性疾病检测为主,分别占42.5%和40.4%。结论:眼科专科医院中非手术常规检验项目在各亚专科的申请数量明显分布不均,项目构成受亚专科疾病特点的影响。眼科实验室应针对性加强非手术常规检测项目的宣传和管理。
Objective: To analyze the application and testing of non-surgical routine blood test items in clinical diagnosis and treatment in a top-tier ophthalmic hospital over the past five years, providing ophthalmologists with insights into the overview of laboratory-assisted diagnosis, laboratory project management in specialized hospitals, and the basis for launching new projects. Methods: Relevant test records of 22,453 samples (totaling 94,081 test items) from 12,866 outpatient patients who applied for blood tests at the Zhongshan Ophthalmic Center of Sun Yat-sen University from January 1, 2018, to December 31, 2022, were retrieved from the medical laboratory information management system. The departments applying for tests and specialist physicians were divided into 10 subspecialties according to the recommendations of the Ophthalmology Branch of the Chinese Medical Association. Statistical analysis was performed on disease diagnosis and test items, and the results were described in the form of text, bar graphs, and line graphs. Results: Among the 12,866 outpatient patients who applied for blood tests over the five-year period, 6,356 (49.4%) were male and 6,510 (50.6%) were female. Based on the classification of first-visit ophthalmic diseases, the top three were ophthalmic plastic surgery/ocular tumor diseases (5,214 cases, 40.5%), fundus diseases (3,487 cases, 27.1%), and corneal diseases (1,711 cases, 13.3%). The number of samples applied for testing increased from 3,163 in 2018 to 5,903 in 2022, showing an overall upward trend. From the perspective of specialist physicians applying for tests, ophthalmic plastic surgery/orbital disease specialists had the highest number of applications, with 6,751 (30.1%), among which autoimmune disease testing accounted for the highest proportion, at 49.1%, and thyroid disease-related testing accounted for 41.9%. The number of applications from ophthalmic immunology specialists was 4,214 (18.8%), with autoimmune disease testing accounting for 55.7% and infectious disease testing accounting for 32.5%. The number of applications from fundus disease specialists was 3,629 (16.2%), with autoimmune disease testing and infectious disease testing accounting for 47.8% and 39.6%, respectively. The number of applications from corneal disease specialists was 1,436 (6.4%), with allergic disease testing accounting for 41.2%. Since multiple tests could be performed on a single application, the ophthalmic plastic surgery/orbital disease subspecialty had the highest total number of tests applied for, with 33,513 tests, of which thyroid disease testing accounted for 65.0%. The corneal disease subspecialty applied for 16,482 tests, with allergic disease testing accounting for 83.4%. The fundus disease subspecialty and ophthalmic immunology subspecialty respectively applied for 8,794 and 8,047 tests, both primarily focused on autoimmune disease testing, accounting for 42.5% and 40.4%, respectively. Conclusions: The number of applications for non-surgical routine test items in ophthalmic specialized hospitals is significantly unevenly distributed among various subspecialties, and the composition of the items is influenced by the characteristics of diseases in each subspecialty. Ophthalmic laboratories should strengthen the promotion and management of non-surgical routine test items in a targeted manner.
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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