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Biomarker potential of vitreous microRNA in retinal disease: a meta-analysis 玻璃体 microRNA 在视网膜疾病中的生物标记潜力:荟萃分析
Pub Date : 2024-03-26 DOI: 10.1101/2024.03.25.24304858
Diana Joseph, Brian Grover, Michael Telias
Acquired retinal diseases such as proliferative diabetic retinopathy and age-related macular degeneration pose significant challenges in diagnosis and prognosis. The vitreous fluid, situated in the posterior chamber of the eye behind the lens, holds a close relationship with the inner retina. Within this milieu, retinal cells secrete a diverse array of biomolecules, potentially harboring vital biomarkers. Among these, short, non-coding micro-RNAs (miRNAs) emerge as promising candidates. Their dynamic regulation by various gene signaling mechanisms, enhanced resistance to degradation, and secretion via separate exocytotic pathways make them particularly significant. Alterations in vitreal miRNA profiles may reflect pathological states and offer insights into disease etiology and progression. We conducted a comprehensive meta-analysis of 22 peer-reviewed studies to assess the potential of vitreous miRNAs as biomarkers for retinal diseases. Our analysis demonstrates the potential utility of miRNAs as biomarkers in specific retinal pathologies. We show that miR-142, miR-9, and miR-21 emerge as robust biomarker candidates, displaying consistent and significant alterations correlating with proliferative vitreoretinal diseases. We also address the methodological challenges encountered in characterizing vitreous miRNA content, including the absence of standardized purification, amplification, and analysis protocols, as well as the scarcity of true control samples. Moreover, we make the case for the adoption of specific housekeeping genes and data normalization techniques to standardize miRNA analysis in the vitreous and explore potential methodologies for obtaining vitreous samples from healthy individuals. Vitreous miRNAs hold promise as potential biomarkers for various retinal diseases, with miR-142, miR-9, and miR-21 emerging as particularly promising candidates. Enhancing methodologies for vitreous sampling and miRNA analysis presents an opportunity to expand the repertoire and utility of miRNA biomarkers in retinal disease diagnosis and prognosis.
增殖性糖尿病视网膜病变和老年性黄斑变性等后天性视网膜疾病给诊断和预后带来了巨大挑战。玻璃体液位于晶状体后的眼球后房中,与视网膜内部关系密切。在这种环境中,视网膜细胞分泌出多种多样的生物分子,其中可能蕴藏着重要的生物标志物。其中,短小的非编码微 RNA(miRNA)成为有希望的候选者。它们受各种基因信号转导机制的动态调控,具有更强的抗降解能力,并通过独立的外泌途径进行分泌,因此具有特别重要的意义。玻璃体 miRNA 图谱的变化可能反映病理状态,并为疾病的病因学和进展提供洞察力。我们对 22 项同行评审研究进行了全面的荟萃分析,以评估玻璃体 miRNA 作为视网膜疾病生物标记物的潜力。我们的分析表明了 miRNA 作为特定视网膜病变生物标志物的潜在作用。我们的研究表明,miR-142、miR-9 和 miR-21 是强有力的候选生物标记物,它们与增殖性玻璃体视网膜疾病有着一致且显著的相关变化。我们还探讨了表征玻璃体 miRNA 含量所面临的方法学挑战,包括缺乏标准化的纯化、扩增和分析方案,以及缺乏真正的对照样本。此外,我们还提出了采用特定的看家基因和数据归一化技术来规范玻璃体内 miRNA 分析的理由,并探讨了从健康人体内获取玻璃体样本的潜在方法。玻璃体miRNA有望成为各种视网膜疾病的潜在生物标记物,其中miR-142、miR-9和miR-21尤其具有潜力。改进玻璃体取样和 miRNA 分析方法为扩大 miRNA 生物标志物在视网膜疾病诊断和预后中的种类和用途提供了机会。
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引用次数: 0
Three-Month Interim Analyses of Repeated Low-Level Red-Light Therapy in Myopia Control in Schoolchildren: A Multi-Ethnic Randomized Controlled Trial 重复低强度红光疗法控制学龄儿童近视的三个月中期分析:多种族随机对照试验
Pub Date : 2024-03-18 DOI: 10.1101/2024.03.16.24304399
Nellie Deen, Zhuoting Zhu, Ziyi Qi, Yuri Yin-Moe Aung, Gabriella Bulloch, Di Mao, Mingguang He
Purpose: To assess the efficacy and safety of repeated low-level red-light (RLRL) therapy in controlling myopia progression among multi-ethnic school-aged children. This report focuses on 3-month interim analysis.Design: Multi-ethnic, parallel controlled randomized trialParticipants: A total of 34 children aged 8-13 years with myopia of cycloplegic spherical equivalent (SE) of − 0.50 to − 5.00 (inclusive) diopters (D), astigmatism of 2.50 D or less, anisometropia of 1.50 D or less, and monocular best-corrected visual acuity (BCVA) of 20/20 or better were enrolled.Methods: Participants were randomly assigned to the RLRL group (n = 16) or the single-vision spectacles (SVS) group (n = 18). RLRL therapy was administered twice daily on weekdays for 3-minute sessions, while the SVS group continued routine activities. Assessments were scheduled at baseline and follow-up visits at 1, 3, 6, and 12 months, with compliance monitoring and safety assessments throughout.Main Outcome Measures: The primary outcome and a key secondary outcome included axial length (AL) change and cycloplegic spherical equivalent (SE) change. Results: A total of 31 (91.2%) participated in the 3-month follow-up visit. The RLRL group demonstrated a significant shortening in AL (-0.07 ± 0.07 mm) compared to the SVS group (0.03 ± 0.05 mm, P<0.001). Similarly, SE progression was hyperopic shift in the RLRL group (0.26 ± 0.14 D) while the SVS group exhibited a myopic shift (-0.03 ± 0.38 D, P=0.009). No severe adverse events were reported.Conclusions: The 3-month interim analysis shows that the efficacy of RLRL therapy in controlling myopia progression among multi-ethnic children is comparable to, or even better than, that idenfied in Chinese patients in previous trials.
目的:评估重复低强度红光疗法(RLRL)在控制多种族学龄儿童近视发展方面的有效性和安全性。本报告侧重于 3 个月的中期分析:设计:多种族平行对照随机试验:共招募了 34 名 8-13 岁的儿童,这些儿童的近视度数为球面等效度数 (SE) - 0.50 至 - 5.00(含)diopters (D),散光度数为 2.50 D 或以下,内斜视度数为 1.50 D 或以下,单眼最佳矫正视力 (BCVA) 为 20/20 或以上:参与者被随机分配到 RLRL 组(n = 16)或单眼视力眼镜 (SVS) 组(n = 18)。RLRL治疗在工作日每天进行两次,每次3分钟,而SVS组则继续日常活动。在基线和 1、3、6 和 12 个月的随访中安排了评估,并在整个过程中进行依从性监测和安全性评估:主要结果和一个关键的次要结果包括轴长(AL)变化和屈光球面等值(SE)变化。结果共有 31 人(91.2%)参加了 3 个月的随访。与 SVS 组(0.03 ± 0.05 mm,P<0.001)相比,RLRL 组的 AL 显著缩短(-0.07 ± 0.07 mm)。同样,RLRL 组的 SE 进展为远视偏移(0.26 ± 0.14 D),而 SVS 组表现为近视偏移(-0.03 ± 0.38 D,P=0.009)。无严重不良事件报告:3个月的中期分析表明,RLRL疗法在控制多民族儿童近视发展方面的疗效与以往试验中发现的中国患者的疗效相当,甚至更好。
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引用次数: 0
Macular Structure Characteristics in Unilateral Idiopathic Full-Thickness Macular Hole and the Healthy Fellow Eyes 单侧特发性全厚黄斑孔和健康同侧眼的黄斑结构特征
Pub Date : 2024-03-18 DOI: 10.1101/2024.03.16.24304402
Yi-Ting Hou, Chung-May Yang, Yi-Ting Hsieh
Purpose: To investigate the characteristics of the macular structure and foveal pit in eyes with lesions and healthy fellow eyes of patients with unilateral full-thickness macular holes (FTMH).Methods: Patients with unilateral FTMH were retrospectively enrolled as the study group, and their age- and sex-matched individuals with no vitreomacular diseases as the control group in a medical center. FTMHs were classified as FTMH with lamellar hole-associated epiretinal proliferation (LHEP), FTMH without LHEP or FTMH without vitreomacular separation. Macular structure parameters, including foveal base width (FBW), central foveolar thickness (CFT), central subfield thickness (CST), central subfield volume (CSV), and retinal artery trajectory (RAT), were measured using optical coherence tomography and fundus photography. These parameters were compared among different FTMH groups.Results: A total of 68 patients (39 women) with unilateral FTMH and 68 healthy controls were enrolled. The RAT of the lesioned eyes (0.19 ± 0.06) and the healthy fellow eyes (0.14 ± 0.04) were both smaller than those of the normal controls (0.37 ± 0.14) (P<0.001 for both). The FBW of the healthy fellow eyes (446.8 ± 98.2 μm) were significantly larger than those in the control group (338.4 ± 80.6 μm, P<0.001). No significant differences in any macular parameters were noted among the three different types of FTMH.Conclusions: Patients with unilateral FTMH had a wider RAT in both the lesioned and healthy eyes, and a wider foveal base in their healthy fellow eyes than in normal controls. Such macular structure characteristics may be prone to macular hole formation.
目的:研究单侧全厚黄斑孔(FTMH)患者病变眼和健康同侧眼黄斑结构和眼窝凹的特征:方法:在一家医疗中心回顾性招募单侧全厚黄斑孔患者作为研究组,其年龄和性别匹配的无玻璃体疾病者作为对照组。FTMH分为伴有板层孔相关视网膜外增殖(LHEP)的FTMH、不伴有LHEP的FTMH和不伴有玻璃体白膜分离的FTMH。使用光学相干断层扫描和眼底摄影测量了黄斑结构参数,包括眼窝基底宽度(FBW)、中央眼窝厚度(CFT)、中央子场厚度(CST)、中央子场体积(CSV)和视网膜动脉轨迹(RAT)。这些参数在不同的 FTMH 组别中进行了比较:结果:共招募了 68 名单侧 FTMH 患者(39 名女性)和 68 名健康对照者。病变眼的 RAT(0.19 ± 0.06)和健康同侧眼的 RAT(0.14 ± 0.04)均小于正常对照组的 RAT(0.37 ± 0.14)(P<0.001)。健康同侧眼的 FBW(446.8 ± 98.2 μm)明显大于对照组(338.4 ± 80.6 μm,P<0.001)。三种不同类型的 FTMH 患者的黄斑参数均无明显差异:结论:与正常对照组相比,单侧 FTMH 患者病变眼和健康眼的 RAT 都更宽,健康同侧眼的眼窝基底也更宽。这种黄斑结构特征可能容易导致黄斑孔的形成。
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引用次数: 0
A Computational Framework for Intraoperative Pupil Analysis in Cataract Surgery 白内障手术术中瞳孔分析计算框架
Pub Date : 2024-03-15 DOI: 10.1101/2024.03.13.24304223
Binh Duong Giap, Karthik Srinivasan,, Ossama Mahmoud, Dena Ballouz, Jefferson Lustre, Keely Likosky, Shahzad I. Mian, Bradford L. Tannen, Nambi Nallasamy
Purpose: Pupillary instability is a known risk factor for complications in cataract surgery. This study aims to develop and validate an innovative and reliable computational framework for the automated assessment of pupil morphologic changes during the various phases of cataract surgery. Design: Retrospective surgical video analysis. Subjects: Two hundred forty complete surgical video recordings, among which 190 surgeries were conducted without the use of pupil expansion devices and 50 were performed with the use of a pupil expansion device. Methods: The proposed framework consists of three stages: feature extraction, deep learning (DL)-based anatomy recognition, and obstruction detection/compensation. In the first stage, surgical video frames undergo noise reduction using a tensor-based wavelet feature extraction method. In the second stage, DL-based segmentation models are trained and employed to segment the pupil, limbus, and palpebral fissure. In the third stage, obstructed visualization of the pupil is detected and compensated for using a DL-based algorithm. A dataset of 5,700 intraoperative video frames across 190 cataract surgeries in the BigCat database was collected for validating algorithm performance. Main Outcome Measures: The pupil analysis framework was assessed on the basis of segmentation performance for both obstructed and unobstructed pupils. Classification performance of models utilizing the segmented pupil time series to predict surgeon use of a pupil expansion device was also assessed. Results: An architecture based on the FPN model with VGG16 backbone integrated with the AWTFE feature extraction method demonstrated the highest performance in anatomy segmentation, with Dice coefficient of 96.52%. Incorporation of an obstruction compensation algorithm improved performance further (Dice 96.82%). Downstream analysis of framework output enabled the development of an SVM-based classifier that could predict surgeon usage of a pupil expansion device prior to its placement with 96.67% accuracy and AUC of 99.44%. Conclusions: The experimental results demonstrate that the proposed framework 1) provides high accuracy in pupil analysis compared to human-annotated ground truth, 2) substantially outperforms isolated use of a DL segmentation model, and 3) can enable downstream analytics with clinically valuable predictive capacity.
目的:瞳孔不稳定是白内障手术并发症的一个已知风险因素。本研究旨在开发并验证一种创新、可靠的计算框架,用于自动评估白内障手术各阶段的瞳孔形态变化。设计:回顾性手术视频分析。研究对象240 个完整的手术视频记录,其中 190 例手术未使用瞳孔扩大装置,50 例手术使用了瞳孔扩大装置。研究方法:采用瞳孔扩大装置进行手术:提议的框架包括三个阶段:特征提取、基于深度学习(DL)的解剖识别和阻塞检测/补偿。在第一阶段,使用基于张量的小波特征提取方法对手术视频帧进行降噪处理。在第二阶段,对基于 DL 的分割模型进行训练,并将其用于分割瞳孔、瞳孔边缘和睑裂。在第三阶段,使用基于 DL 的算法检测并补偿瞳孔的视觉障碍。在 BigCat 数据库中收集了 190 例白内障手术的 5,700 个术中视频帧数据集,用于验证算法性能。主要结果测量:评估瞳孔分析框架的依据是对有障碍和无障碍瞳孔的分割性能。还评估了利用瞳孔时间序列分割预测外科医生使用瞳孔扩大装置的模型的分类性能。结果:基于带有 VGG16 主干网的 FPN 模型的结构与 AWTFE 特征提取方法相结合,在解剖分割方面表现最佳,Dice 系数达到 96.52%。加入阻塞补偿算法后,性能进一步提高(Dice 96.82%)。通过对框架输出的下游分析,开发出了基于 SVM 的分类器,该分类器可在瞳孔扩大装置放置前预测外科医生的使用情况,准确率为 96.67%,AUC 为 99.44%。结论实验结果表明,所提出的框架 1) 与人类标注的基本事实相比,瞳孔分析具有很高的准确性;2) 远远优于单独使用 DL 分割模型的效果;3) 可以实现具有临床价值预测能力的下游分析。
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引用次数: 0
Creating an Early Diagnostic Method for Glaucoma Using Convolutional Neural Networks 利用卷积神经网络创建青光眼早期诊断方法
Pub Date : 2024-03-15 DOI: 10.1101/2024.03.14.24304273
Areej A. Alqarni, Sanad H. Al Harbi, Irshad A. Subhan
According to the World Health Organization, glaucomais a leading cause of blindness, accounting for over 12% of globalblindness as it affects one in every 100 people. In fact, 79.6 millionpeople worldwide live with blindness caused by glaucoma. This isbecause the current method for diagnosing glaucoma is byexamining retinal fundus images. However, it is considerablydifficult to distinguish the lesions' features solely through manualobservations by ophthalmologists, especially in the early phases.This study proposes a new diagnosis method using convolutionalneural networks. The attention mechanism is utilized to learnpixel-wise features for accurate prediction. Several attentionstrategies have been developed to guide the networks in learningthe important features and factors that affect localization accuracy.The algorithms were trained for glaucoma detection using Python2.7, TensorFlow, Py Torch, and Keras. The methods wereevaluated on Drishti-GS and RIM-ONE datasets with 361 trainingand 225 test sets, consisting of 344 healthy and 242 glaucomatousimages. The proposed algorithms can achieve impressive resultsthat show an increase in overall diagnostic efficiency, as thealgorithm displays a 30-second detection time with 98.9%accuracy compared to the 72.3% accuracy of traditional testingmethods. Finally, this algorithm has been implemented as awebpage, allowing patients to test for glaucoma. This webpageoffers various services such as: connecting the patient to thenearest care setup; offering scientific articles regarding glaucoma;and a video game that supports eye-treatment yogic exercises tostrengthen vision and focus. This early diagnostic method has thenear future potential to decrease the percentage of irreversiblevision loss due to glaucoma by 42.79% (the percentage wascalculated using the mean absolute error function), which couldprevent glaucoma from remaining the leading cause of blindnessworldwide.
据世界卫生组织统计,青光眼是导致失明的主要原因之一,占全球失明人数的 12%以上,每 100 人中就有一人受到青光眼的影响。事实上,全世界有 7960 万人因青光眼而失明。这是因为目前诊断青光眼的方法是检查视网膜眼底图像。本研究提出了一种使用卷积神经网络的新诊断方法。本研究利用卷积神经网络提出了一种新的诊断方法,利用注意力机制来学习像素特征,从而进行准确预测。我们开发了几种注意力策略来指导网络学习影响定位准确性的重要特征和因素。我们使用 Python2.7、TensorFlow、Py Torch 和 Keras 对算法进行了训练,以检测青光眼。这些方法在 DrishtiGS 和 RIM-ONE 数据集上进行了评估,共有 361 个训练集和 225 个测试集,其中包括 344 张健康图像和 242 张青光眼图像。与传统检测方法 72.3% 的准确率相比,该算法的检测时间仅为 30 秒,准确率高达 98.9%。最后,该算法还被制作成网页,供患者检测青光眼。该网页提供多种服务,例如:将患者与最近的医疗机构联系起来;提供有关青光眼的科学文章;以及支持眼部治疗瑜伽练习的视频游戏,以增强视力和注意力。在不久的将来,这种早期诊断方法有可能将青光眼导致的不可逆转视力损失的比例降低 42.79%(该比例是使用平均绝对误差函数计算得出的),从而避免青光眼继续成为全球致盲的主要原因。
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引用次数: 0
Great expectations: Aligning visual prosthetic development with implantee needs 殷切期望:使视觉假体的开发符合植入者的需求
Pub Date : 2024-03-14 DOI: 10.1101/2024.03.12.24304186
Lucas Gil Nadolskis, Lily M Turkstra, Ebenezer Larnyo, Michael Beyeler
Purpose: Visual prosthetics have emerged as a promising assistive technology for individuals with vision loss, yet research often overlooks the human aspects of this technology. While previous studies have concentrated on the perceptual experiences of implant recipients (implantees) or the attitudes of potential implantees towards near-future implants, a systematic account of how current implants are being used in everyday life is still lacking.Methods: We interviewed six recipients of the most widely used visual implants (Argus II and Orion) and six leading researchers in the field. Through thematic and statistical analyses, we explored the daily usage of these implants by implantees and compared their responses to the expectations of researchers. We also sought implantees' input on desired features for future versions, aiming to inform the development of the next generation of implants.Results: Although implants are designed to facilitate various daily activities, we found that implantees use them less frequently than researchers expected. This discrepancy primarily stems from issues with usability and reliability, with implantees finding alternative methods to accomplish tasks, reducing the need to rely on the implant. For future implants, implantees emphasized the desire for improved vision, smart integration, and increased independence.Conclusions: Our study reveals a significant gap between researcher expectations and implantee experiences with visual prostheses, underscoring the importance of focusing future research on usability and real-world application.Translational relevance: This work advocates for a better alignment between technology development and implantee needs to enhance clinical relevance and practical utility of visual prosthetics.
目的:视觉义肢已成为一项很有前途的辅助失明人士的技术,但研究往往忽视了这项技术的人文关怀。以往的研究主要集中在植入者的感知体验或潜在植入者对未来植入体的态度上,但对当前植入体在日常生活中的使用情况仍缺乏系统的描述:我们采访了六位最广泛使用的视觉植入体(Argus II 和 Orion)的接受者和该领域的六位主要研究人员。通过专题分析和统计分析,我们探讨了植入者对这些植入体的日常使用情况,并将他们的反应与研究人员的期望进行了比较。我们还征求了植入者对未来版本所需功能的意见,旨在为下一代植入体的开发提供参考:结果:虽然植入体的设计旨在方便各种日常活动,但我们发现,植入者使用植入体的频率低于研究人员的预期。这种差异主要源于可用性和可靠性问题,被植入者会寻找其他方法来完成任务,从而减少对植入体的依赖。对于未来的植入物,被植入者强调了改善视觉、智能集成和提高独立性的愿望:我们的研究揭示了研究人员的期望与植入者对视觉假体的体验之间存在着巨大差距,强调了将未来研究的重点放在可用性和实际应用上的重要性:这项工作倡导更好地协调技术开发与植入者需求之间的关系,以提高视觉义肢的临床相关性和实用性。
{"title":"Great expectations: Aligning visual prosthetic development with implantee needs","authors":"Lucas Gil Nadolskis, Lily M Turkstra, Ebenezer Larnyo, Michael Beyeler","doi":"10.1101/2024.03.12.24304186","DOIUrl":"https://doi.org/10.1101/2024.03.12.24304186","url":null,"abstract":"Purpose: Visual prosthetics have emerged as a promising assistive technology for individuals with vision loss, yet research often overlooks the human aspects of this technology. While previous studies have concentrated on the perceptual experiences of implant recipients (implantees) or the attitudes of potential implantees towards near-future implants, a systematic account of how current implants are being used in everyday life is still lacking.\u0000Methods: We interviewed six recipients of the most widely used visual implants (Argus II and Orion) and six leading researchers in the field. Through thematic and statistical analyses, we explored the daily usage of these implants by implantees and compared their responses to the expectations of researchers. We also sought implantees' input on desired features for future versions, aiming to inform the development of the next generation of implants.\u0000Results: Although implants are designed to facilitate various daily activities, we found that implantees use them less frequently than researchers expected. This discrepancy primarily stems from issues with usability and reliability, with implantees finding alternative methods to accomplish tasks, reducing the need to rely on the implant. For future implants, implantees emphasized the desire for improved vision, smart integration, and increased independence.\u0000Conclusions: Our study reveals a significant gap between researcher expectations and implantee experiences with visual prostheses, underscoring the importance of focusing future research on usability and real-world application.\u0000Translational relevance: This work advocates for a better alignment between technology development and implantee needs to enhance clinical relevance and practical utility of visual prosthetics.","PeriodicalId":501390,"journal":{"name":"medRxiv - Ophthalmology","volume":"8 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140128680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploring WNT2 Polymorphisms in Comitant Strabismus: A Genetic Association Study 探索合并斜视中的 WNT2 多态性:遗传关联研究
Pub Date : 2024-03-14 DOI: 10.1101/2024.03.12.24304190
Zainab Zehra, Christopher S von Bartheld, Andrea B. Agarwal, Hans Vasquez-Gross, Sorath Noorani Siddiqui, Maleeha Azam, Raheel Qamar
AbstractBackground: Strabismus is a complex oculomotor condition characterized by a misalignment of the visual axis. The genetics of strabismus are poorly defined although a few candidate genes have been identified, among which is the WNT2 gene. Our study was designed to assess the association of single nucleotide polymorphisms (SNPs) of WNT2 in Pakistani strabismus patients.Methods: A total of six SNPs, three intronic and three in the 3 untranslated region, were screened in the current study. Logistic regression was performed using a dominant, recessive and additive model to determine the association of SNPs with strabismus and its clinical subtypes: esotropia and exotropia. Furthermore, haplotype analysis was performed.Results: Regression analysis revealed an association of rs2896218, rs3779550, rs2285544 and rs4730775 with strabismus under the dominant model. When analyzed separately, rs2896218 and rs2285544 were found to be associated with both esotropia and exotropia, while rs4730775 was significantly associated only with exotropia under the dominant model. Based on clinical parameters, rs2896218, rs2285544 and rs4730775 were also found to be associated with the group of strabismus patients who were diagnosed at birth, but not in the group of patients who were diagnosed later in life. Haplotype analysis revealed that the haplotype A T T (corresponding to rs2896218, rs3779550 and rs2285544) was significantly more prevalent in the strabismus group. Conclusion: Overall, the results of the present study suggests an association of WNT2 polymorphisms with strabismus and its subtypes in the Pakistani population, though further studies are needed to elucidate their role in strabismus etiology.
摘要背景:斜视是一种复杂的眼球运动疾病,以视轴错位为特征。虽然已经发现了一些候选基因,其中包括 WNT2 基因,但斜视的遗传学尚不明确。我们的研究旨在评估巴基斯坦斜视患者中 WNT2 基因单核苷酸多态性(SNPs)的相关性:本研究共筛选出 6 个 SNPs,其中 3 个在内含子区,3 个在 3 非翻译区。采用显性、隐性和加性模型进行逻辑回归,以确定 SNPs 与斜视及其临床亚型(内斜视和外斜视)的相关性。此外,还进行了单倍型分析:回归分析显示,在显性模型下,rs2896218、rs3779550、rs2285544 和 rs4730775 与斜视有关。单独分析时发现,在显性模型下,rs2896218 和 rs2285544 同时与内斜视和外斜视相关,而 rs4730775 仅与外斜视显著相关。根据临床参数,还发现 rs2896218、rs2285544 和 rs4730775 与出生时确诊的斜视患者组相关,但与晚期确诊的斜视患者组无关。单倍型分析表明,单倍型 A T T(对应 rs2896218、rs3779550 和 rs2285544)在斜视组中的发病率明显更高。结论总体而言,本研究结果表明,在巴基斯坦人群中,WNT2 多态性与斜视及其亚型存在关联,但仍需进一步研究以阐明其在斜视病因学中的作用。
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引用次数: 0
Automated Detection of Keratorefractive Laser Surgeries on Optical Coherence Tomography using Deep Learning 利用深度学习自动检测光学相干断层扫描上的角膜屈光激光手术
Pub Date : 2024-03-11 DOI: 10.1101/2024.03.08.24304001
Jad F. Assaf, Hady Yazbeck, Dan Reinstein, Timothy Archer, Roland Assaf, Diego de Ortueta, Juan Arbelaez, Maria Clara Arbelaez, Shady T Awwad
PURPOSE: To report a deep learning neural network on anterior segment optical coherence tomography (AS-OCT) for automated detection of different keratorefractive laser surgeries, including Laser In-Situ Keratomileusis with femtosecond microkeratome (Femto-LASIK), LASIK with mechanical microkeratome, photorefractive keratectomy (PRK), keratorefractive lenticule extraction (KLEx), and non-operated eyes, while also distinguishing the targeted ametropias, such as myopic and hyperopic treatments, within these procedures. DESIGN: Cross-sectional retrospective study. METHODS: A total of 14,948 eye scans from 2,278 eyes of 1,166 subjects were used to develop a deep learning neural network algorithm with an 80/10/10 patient distribution for training, validation, and testing phases, respectively. The algorithm was evaluated for its accuracy, F1-scores, area under precision-recall curve (AUPRC), and area under receiver operating characteristic curve (AUROC). RESULTS: On the test dataset, the neural network was able to detect the different surgical classes with an accuracy of 96%, a weighted-average F1-score of 96% and a macro-average F1-score of 96%. The neural network was further able to detect hyperopic and myopic subclasses within each surgical class, with an accuracy of 90%, weighted-average F1 score of 90%, and macro-average F1-score of 83%. CONCLUSIONS: Determining a patient's keratorefractive laser history is vital for customizing treatments, performing precise intraocular lens (IOL) calculations, and enhancing ectasia risk assessments, especially when electronic health records are incomplete or unavailable. Neural networks can be used to accurately classify keratorefractive laser history from AS-OCT scans, a step in transforming the AS-OCT from a diagnostic to a screening tool in the refractive clinic.
目的报告一种前段光学相干断层扫描(AS-OCT)深度学习神经网络,用于自动检测不同的角膜屈光激光手术,包括飞秒激光原位角膜磨镶术(Femto-LASIK)、LASIK)、光屈光性角膜切除术(PRK)、角膜屈光小体摘除术(KLEx)和非手术眼,同时还能区分这些手术中的目标屈光度,如近视和远视治疗。设计:横断面回顾性研究。方法:使用来自 1,166 名受试者 2,278 只眼睛的总共 14,948 份眼部扫描数据,开发出一种深度学习神经网络算法,并在训练、验证和测试阶段分别采用 80/10/10 患者分布。对算法的准确度、F1-分数、精确度-召回曲线下面积(AUPRC)和接收者工作特征曲线下面积(AUROC)进行了评估。结果:在测试数据集上,神经网络检测不同手术类别的准确率为 96%,加权平均 F1 分数为 96%,宏观平均 F1 分数为 96%。神经网络还能检测出每个手术类别中的远视和近视亚类,准确率为 90%,加权平均 F1 分数为 90%,宏观平均 F1 分数为 83%。结论:确定患者的角膜屈光激光史对于定制治疗方案、精确计算眼内晶状体(IOL)和加强异位风险评估至关重要,尤其是在电子健康记录不完整或不可用的情况下。神经网络可用于从 AS-OCT 扫描中对角膜屈光激光史进行准确分类,这是将 AS-OCT 从屈光诊所的诊断工具转变为筛查工具的一个步骤。
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引用次数: 0
Evaluating the Safety and Efficacy of Topical Insulin for Ocular Disease: A Systematic Review 评估外用胰岛素治疗眼部疾病的安全性和有效性:系统回顾
Pub Date : 2024-02-29 DOI: 10.1101/2024.02.24.24303321
Luis Jesuino de Oliveira Andrade, Gabriela Correia Matos de Oliveira, Caroline Santos Franca, Luis Matos de Oliveira
Introduction: Ocular surface disorders are prevalent, impacting millions worldwide and causing significant morbidity. Conventional treatments often fall short in addressing refractory cases. Topical insulin has emerged as a potential therapeutic option.Objective: This systematic review aimed to evaluate the safety and efficacy of topical insulin for ocular diseases.Methods: We conducted a systematic review in major databases including the PubMed, MEDLINE, and EMBASE for studies published from (1976 Jan - 2024 Feb) investigating topical insulin for ocular conditions. Studies were screened and selected based on predefined inclusion/exclusion criteria. Data on safety and efficacy were extracted and analyzed. Results: Ten studies (1 case-control, 3 randomized prospective, 3 retrospective, and 3 double-blind designs) met the inclusion criteria. Studies explored various indications, including neurotrophic corneal ulcers, persistent epithelial defects, recurrent epithelial erosions, dry eye disease, and postoperative corneal wound healing in diabetic patients. Overall, findings suggested promising outcomes with topical insulin: promoting healing of refractory neurotrophic corneal ulcers, accelerating reepithelialization in persistent epithelial defects, reducing recurrence of recurrent epithelial erosions, improving symptoms and reducing corneal staining in dry eye disease, enhancing postoperative corneal epithelial wound healing in diabetic patients. Adverse events were minimal and primarily reported as transient stinging or discomfort.Conclusion: This review provides encouraging evidence for the therapeutic potential of topical insulin in diverse ocular diseases. While methodological limitations exist, particularly in non-randomized studies, the current body of literature suggests topical insulin may offer a safe and effective treatment option for patients with refractory corneal disorders.Keywords: Topical insulin, Ocular conditions, Systematic review.
导言:眼表疾病很普遍,影响着全球数百万人,并造成严重的发病率。传统治疗方法往往无法解决难治性病例。外用胰岛素已成为一种潜在的治疗选择:本系统综述旨在评估外用胰岛素治疗眼部疾病的安全性和有效性:我们在主要数据库(包括 PubMed、MEDLINE 和 EMBASE)中对 1976 年 1 月至 2024 年 2 月期间发表的有关局部胰岛素治疗眼部疾病的研究进行了系统综述。根据预先确定的纳入/排除标准对研究进行了筛选。提取并分析了有关安全性和有效性的数据。结果:10项研究(1项病例对照、3项随机前瞻性、3项回顾性和3项双盲设计)符合纳入标准。研究探讨了各种适应症,包括神经营养性角膜溃疡、持续性上皮缺损、复发性上皮糜烂、干眼症以及糖尿病患者术后角膜伤口愈合。总体而言,研究结果表明局部使用胰岛素具有良好的疗效:促进难治性神经营养性角膜溃疡的愈合,加速顽固性上皮缺损的再上皮化,减少复发性上皮糜烂的复发,改善干眼症的症状并减少角膜染色,促进糖尿病患者术后角膜上皮伤口的愈合。不良反应极少,主要表现为短暂的刺痛或不适:本综述为外用胰岛素治疗各种眼部疾病的潜力提供了令人鼓舞的证据。尽管存在方法上的局限性,尤其是在非随机研究中,但目前的文献表明外用胰岛素可为难治性角膜疾病患者提供安全有效的治疗选择:局部胰岛素 眼部疾病 系统综述
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引用次数: 0
Quantitative Characterization of Retinal Features in Translated OCTA 转化 OCTA 中视网膜特征的定量表征
Pub Date : 2024-02-27 DOI: 10.1101/2024.02.23.24303275
Rashadul Hasan Badhon, Atalie Carina Thompson, Jennifer I. Lim, Theodore Leng, Minhaj Nur Alam
Purpose: This study explores the feasibility of using generative machine learning (ML) to translate Optical Coherence Tomography (OCT) images into Optical Coherence Tomography Angiography (OCTA) images, potentially bypassing the need for specialized OCTA hardware.Methods: The method involved a generative adversarial network framework that includes a 2D vascular segmentation model and a 2D OCTA image translation model. This framework is designed to enhance the accuracy, resolution, and continuity of vascular regions in the translated OCTA (TR-OCTA) images. The study utilizes a public dataset of 500 patients, divided into subsets based on resolution and disease status, to validate the quality of TR-OCTA images. The validation employs several quality and quantitative metrics to compare the translated images with ground truth OCTAs (GT-OCTA).Result: TR-OCTAs showed high image quality in both 3 and 6 mm datasets (high-resolution, moderate structural similarity and contrast quality compared to GT-OCTAs). There were slight discrepancies in vascular metrics, especially in diseased patients. Blood vessel features like tortuosity and vessel perimeter index showed a better trend compared to density features which are affected by local vascular distortions.Conclusion: This study presents a promising solution to the limitations of OCTA adoption in clinical practice by using ML to translate OCT data into OCTA images.Translation relevance: This study has the potential to significantly enhance the diagnostic process for retinal diseases by making detailed vascular imaging more widely available and reducing dependency on costly OCTA equipment.
目的:本研究探讨了使用生成式机器学习(ML)将光学相干断层扫描(OCT)图像转换为光学相干断层扫描血管造影(OCTA)图像的可行性,从而有可能绕过对专业 OCTA 硬件的需求:该方法涉及一个生成对抗网络框架,其中包括一个二维血管分割模型和一个二维 OCTA 图像转换模型。该框架旨在提高翻译后的 OCTA(TR-OCTA)图像中血管区域的准确性、分辨率和连续性。该研究利用一个包含 500 名患者的公共数据集来验证 TR-OCTA 图像的质量,该数据集根据分辨率和疾病状态分为若干子集。验证采用了多个质量和定量指标,将翻译后的图像与地面实况 OCTA(GT-OCTA)进行比较:结果:TR-OCTA 在 3 毫米和 6 毫米数据集中均显示出较高的图像质量(与 GT-OCTA 相比,具有高分辨率、中等结构相似性和对比度质量)。血管指标略有差异,尤其是在患病患者中。与受局部血管扭曲影响的密度特征相比,迂曲度和血管周长指数等血管特征显示出更好的趋势:本研究通过使用 ML 将 OCT 数据转化为 OCTA 图像,为临床实践中采用 OCTA 的局限性提供了一个很有前景的解决方案:这项研究有可能通过更广泛地提供详细的血管成像,减少对昂贵的 OCTA 设备的依赖,从而大大提高视网膜疾病的诊断过程。
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引用次数: 0
期刊
medRxiv - Ophthalmology
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