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Genetic association of TIE2 with diabetic retinopathy and diabetic macular edema TIE2 与糖尿病视网膜病变和糖尿病黄斑水肿的遗传关系
IF 4.4 3区 医学 Q1 Medicine Pub Date : 2024-05-01 DOI: 10.1016/j.apjo.2024.100068
Jun Yu , Marten E. Brelen , Carmen K.M. Chan , Zhen Ji Chen , Shaheeda Mohamed , Jason C. Yam , Dennis S.C. Lam , Chi Pui Pang , Clement C. Tham , Li Jia Chen

Purpose

To evaluate the associations of the TIE2 gene with diabetic retinopathy (DR) and diabetic macular edema (DME).

Methods

This study included a Chinese cohort of 285 non-proliferative DR patients and 433 healthy controls. The DR patients were classified further into those with or without DME. Thirty haplotype-tagging single-nucleotide polymorphisms (SNPs) in TIE2 were genotyped using TaqMan technology. Associations of DR and subtypes were analyzed by logistic regression adjusted for age and sex. Stratification association analysis by sex was performed.

Results

TIE2 rs625767 showed a nominal but consistent association with DR [odds ratio (OR) = 0.71, P = 0.005] and subtypes (DR without DME: OR = 0.69, P = 0.016; DME: OR = 0.73, P = 0.045). SNP rs652010 was consistently associated with overall DR (OR = 0.74, P = 0.011) and DR without DME (OR = 0.70, P = 0.016), but not with DME. Moreover, SNPs rs669441, rs10967760, rs549099 and rs639225 showed associations with overall DR, whilst rs17761403, rs664461 and rs1413825 with DR without DME. In stratification analysis, three SNPs, rs625767 (OR = 0.62, P = 0.005), rs669441 (OR = 0.63, P = 0.006) and rs652010 (OR = 0.64, P = 0.007), were associated with DR in females, but not in males. Moreover, one haplotype T-T defined by rs625767 and rs669441 was significantly associated with DR in females only.

Conclusions

This study revealed TIE2 as a susceptibility gene for DR and DME in Chinese, with a sex-specific association in females. Further validation should be warranted.

目的:评估TIE2基因与糖尿病视网膜病变(DR)和糖尿病黄斑水肿(DME)的相关性:该研究纳入了一个由285名非增殖性DR患者和433名健康对照者组成的中国队列。DR患者被进一步分为有DME和无DME两类。采用 TaqMan 技术对 TIE2 中的 30 个单体型标记单核苷酸多态性(SNPs)进行了基因分型。通过逻辑回归分析了DR与亚型的相关性,并对年龄和性别进行了调整。按性别进行了分层关联分析:结果:TIE2 rs625767与DR[几率比(OR)= 0.71,P = 0.005]和亚型(无DME的DR:OR = 0.69,P = 0.016;DME:OR = 0.73,P = 0.045)有名义上但一致的关联。SNP rs652010 与总体 DR(OR = 0.74,P = 0.011)和无 DME 的 DR(OR = 0.70,P = 0.016)持续相关,但与 DME 无关。此外,SNPs rs669441、rs10967760、rs549099 和 rs639225 与总体 DR 有关,而 rs17761403、rs664461 和 rs1413825 与无 DME 的 DR 有关。在分层分析中,rs625767(OR = 0.62,P = 0.005)、rs669441(OR = 0.63,P = 0.006)和 rs652010(OR = 0.64,P = 0.007)这三个 SNP 与女性的 DR 相关,但与男性的 DR 无关。此外,由 rs625767 和 rs669441 定义的单倍型 T-T 仅与女性的 DR 显著相关:这项研究揭示了 TIE2 是中国人患 DR 和 DME 的易感基因,而且女性与 DR 的相关性具有性别特异性。需要进一步验证。
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引用次数: 0
Transition probabilities of diabetic retinopathy and death in an Asian population with diabetes 亚洲糖尿病患者糖尿病视网膜病变和死亡的转变概率。
IF 4.4 3区 医学 Q1 Medicine Pub Date : 2024-05-01 DOI: 10.1016/j.apjo.2024.100070
Sudarshan Seshasai , Feng He , Betty Lam , Haslina Hamzah , Ching-Yu Cheng , Jialiang Li , Tien Yin Wong , Gavin Siew Wei Tan , Charumathi Sabanayagam

Purpose

To evaluate the dynamic transitions in diabetic retinopathy (DR) severity over time and associated risk factors in an Asian population with diabetes.

Design

Longitudinal cohort study

Methods

We analyzed data from 9481 adults in the Singapore Integrated Diabetic Retinopathy Screening Program (2010–2015) with linkage to death registry. A multistate Markov model adjusted for age, sex, systolic blood pressure (SBP), diabetes duration, HbA1c, and body mass index (BMI) was applied to estimate annual transition probabilities between four DR states (no, mild, moderate, and severe/proliferative) and death, and the mean sojourn time in each state.

Results

The median assessment interval was 12 months, with most patients having 3 assessments. Annual probabilities for DR progression (no-to-mild, mild-to-moderate and moderate-to-severe/proliferative) were 6.1 %, 7.0 % and 19.3 %, respectively; and for regression (mild-to-no, moderate-to-mild and severe-to-moderate) were 55.4 %, 17.3 % and 4.4 %, respectively. Annual mortality rates from each DR state were 1.2 %, 2.0 %, 18.7 %, and 30.0 %. The sojourn time in each state were 8.2, 0.8, 0.8 and 2.2 years. Higher HbA1c and SBP levels were associated with progression of no-mild and mild-moderate DR, and diabetes duration with no-to-mild and moderate-to-severe/proliferative DR. Lower HbA1c levels were associated with regression from mild-to-no and moderate-to-mild, and higher BMI with mild-to-no DR.

Conclusions

Our results suggest a prolonged duration (∼8 years) in developing mild DR, with faster transitions (within a year) from mild or moderate states. Moderate/above DR greatly increases the probability of progression and death as compared to mild DR/below. HbA1c was associated with both progression as well as regression.

目的:评估亚洲糖尿病患者糖尿病视网膜病变(DR)严重程度随时间的动态变化及相关风险因素:纵向队列研究 方法:我们分析了新加坡综合糖尿病视网膜病变筛查项目(2010-2015 年)中 9481 名成人的数据,并与死亡登记进行了链接。我们采用了一个多状态马尔可夫模型,并对年龄、性别、收缩压(SBP)、糖尿病病程、HbA1c 和体重指数(BMI)进行了调整,以估算四种 DR 状态(无、轻度、中度和重度/增殖性)与死亡之间的年度转换概率,以及在每种状态下的平均停留时间:评估间隔中位数为 12 个月,大多数患者接受过 3 次评估。DR进展(无至轻度、轻度至中度和中度至重度/增殖性)的年概率分别为6.1%、7.0%和19.3%;DR退化(轻度至无、中度至轻度和重度至中度)的年概率分别为55.4%、17.3%和4.4%。DR 各州的年死亡率分别为 1.2%、2.0%、18.7% 和 30.0%。在各州的停留时间分别为 8.2 年、0.8 年、0.8 年和 2.2 年。较高的 HbA1c 和 SBP 水平与非轻度和轻度-中度 DR 的进展有关,糖尿病持续时间与非轻度和中度-重度/增生性 DR 有关。较低的 HbA1c 水平与轻度至非轻度和中度至轻度 DR 的进展有关,较高的 BMI 与轻度至非轻度 DR 有关:我们的研究结果表明,轻度 DR 的发展持续时间较长(约 8 年),从轻度或中度状态过渡的速度较快(一年内)。与轻度 DR/轻度以下相比,中度 DR/中度以上大大增加了病情恶化和死亡的概率。HbA1c 既与病情进展有关,也与病情消退有关。
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引用次数: 0
Syphilitic scleritis and episcleritis: A review 梅毒性巩膜炎和外巩膜炎:综述
IF 4.4 3区 医学 Q1 Medicine Pub Date : 2024-05-01 DOI: 10.1016/j.apjo.2024.100073
Melissa K. Shields , João M. Furtado , Stewart R. Lake , Justine R. Smith

Scleritis and episcleritis are rare, but potentially sight-threatening forms of syphilis. To provide a full description of this neglected subset of ocular syphilis, we evaluated the English literature for reports of syphilitic scleritis and episcleritis, recording the demographics, clinical characteristics, serological data, management practices, treatment responses, and visual outcomes. Previously published descriptions of 44 patients with syphilitic scleritis (50 eyes) and 9 patients with syphilitic episcleritis (14 eyes) were identified. The predominant type of scleritis was anterior scleritis, accounting for 92.9% of cases, with nodular anterior scleritis being the most frequent subtype at 58.1%. Almost one-quarter of patients were co-infected with human immunodeficiency virus (HIV). Initial misdiagnosis was common and led to delays in initiating treatment with appropriate antibiotics. Visual outcomes were often good in both scleritis and episcleritis, irrespective of HIV infection status, although complications including scleral thinning, keratitis, and uveitis, along with permanent visual loss and an association with neurosyphilis, were reported. Response to antibiotic treatment was typically rapid, often within 1 week. With the rising global incidence of syphilis, testing patients with scleritis or episcleritis for this infectious disease is important to ensure prompt diagnosis and treatment for best ocular and systemic outcomes.

巩膜炎和巩膜上皮炎是梅毒的一种罕见病,但有可能威胁视力。为了全面描述这种被忽视的眼梅毒亚型,我们评估了英文文献中有关梅毒性巩膜炎和上皮炎的报道,记录了人口统计学、临床特征、血清学数据、管理方法、治疗反应和视觉结果。我们找到了以前发表的关于 44 名梅毒性巩膜炎患者(50 眼)和 9 名梅毒性上巩膜炎患者(14 眼)的描述。硬膜炎的主要类型是前部硬膜炎,占病例总数的 92.9%,结节性前部硬膜炎是最常见的亚型,占 58.1%。近四分之一的患者同时感染了人类免疫缺陷病毒(HIV)。最初的误诊很常见,导致延误了使用适当抗生素的治疗。尽管有报道称巩膜变薄、角膜炎和葡萄膜炎等并发症,以及永久性视力丧失和与神经梅毒有关,但无论感染艾滋病毒与否,巩膜炎和上巩膜炎的视觉效果通常都很好。抗生素治疗的反应通常很快,通常在一周内就能见效。随着全球梅毒发病率的不断上升,对患有巩膜炎或上巩膜炎的患者进行这种传染病的检测非常重要,以确保及时诊断和治疗,从而获得最佳的眼部和全身治疗效果。
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引用次数: 0
Updates on eyelid cancers 眼睑癌的最新进展
IF 4.4 3区 医学 Q1 Medicine Pub Date : 2024-03-01 DOI: 10.1016/j.apjo.2024.100057
Kristina Joana Schoelles, Claudia Auw-Haedrich

In this review, we aim to provide an overview of the five most common malignant eyelid tumors with current treatment recommendations based on international guidelines. Particular attention is paid to the clinicopathological correlation and the update with regard to adequate treatment. Newer systemic therapies enrich the existing treatment options, of which complete tumor excision remains the most important therapeutic measure.

在这篇综述中,我们旨在概述五种最常见的眼睑恶性肿瘤,并根据国际指南提供当前的治疗建议。其中特别关注临床病理相关性和适当治疗的最新进展。较新的系统疗法丰富了现有的治疗方案,其中完全切除肿瘤仍是最重要的治疗措施。
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引用次数: 0
Vitreous metastasis from cutaneous melanoma while on checkpoint inhibitors 使用检查点抑制剂期间皮肤黑色素瘤的玻璃体转移。
IF 4.4 3区 医学 Q1 Medicine Pub Date : 2024-03-01 DOI: 10.1016/j.apjo.2024.100050
Thomas M. Catapano, Rolika Bansal, Carol L. Shields
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引用次数: 0
41 Gauge transvitreal fine-needle aspiration biopsy for intraocular tumors without vitrectomy 41 号经玻璃体细针穿刺活检术治疗眼内肿瘤,无需玻璃体切除术
IF 4.4 3区 医学 Q1 Medicine Pub Date : 2024-03-01 DOI: 10.1097/APO.0000000000000610
Chul Hee Lee, Min Kim, Su-Jin Shin
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引用次数: 0
Targeted therapy in ophthalmic oncology: The current status 眼科肿瘤的靶向治疗:现状
IF 4.4 3区 医学 Q1 Medicine Pub Date : 2024-03-01 DOI: 10.1016/j.apjo.2024.100062
Mrittika Sen , Hakan Demirci , Santosh G. Honavar

There have been rapid advancements in the field of ocular oncology for the diagnosis and management of intraocular, adnexal, and orbital tumors. Targeted therapy is in the forefront of medical research in all fields including ocular oncology. Targeted therapy include drugs that target specific genetic mutations, pathways or proteins involved in the development of cancer. In contrast to traditionally used chemotherapy, drugs used in targeted therapy are highly specific for tumor cells and preserve the function of normal cells. This review aims to familiarize ophthalmologists with the drugs that are currently approved or undergoing clinical trials for use in ocular oncology. Targeted therapy is particularly useful for locally advanced or metastatic tumors, including but not limited to eyelid and periocular basal cell carcinoma, periocular cutaneous and conjunctival squamous cell carcinoma, ocular adnexal lymphoma, conjunctival melanoma, and uveal melanoma. The results are promising with improved survival outcomes and better tolerability than chemotherapeutic drugs.

眼部肿瘤学领域在诊断和治疗眼内、附件和眼眶肿瘤方面取得了突飞猛进的发展。在包括眼肿瘤学在内的所有领域,靶向治疗都处于医学研究的前沿。靶向治疗包括针对特定基因突变、途径或涉及癌症发展的蛋白质的药物。与传统的化疗相比,靶向治疗中使用的药物对肿瘤细胞具有高度特异性,并能保留正常细胞的功能。本综述旨在让眼科医生了解目前已获批准或正在进行临床试验的眼部肿瘤治疗药物。靶向治疗尤其适用于局部晚期或转移性肿瘤,包括但不限于眼睑和眼周基底细胞癌、眼周皮肤和结膜鳞状细胞癌、眼附属淋巴瘤、结膜黑色素瘤和葡萄膜黑色素瘤。与化疗药物相比,该疗法的生存率更高,耐受性更好,效果令人鼓舞。
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引用次数: 0
Bilateral diffuse uveal melanocytic proliferation secondary to combined hepatocellular-cholangiocarcinoma 继发于肝细胞胆管癌的双侧弥漫性葡萄膜黑色素细胞增生。
IF 4.4 3区 医学 Q1 Medicine Pub Date : 2024-03-01 DOI: 10.1016/j.apjo.2024.100051
Xiaolu Yang , Ruonan Wang , Hao Zhou , Suqin Yu
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引用次数: 0
Intravascular large B-cell lymphoma of the eye: Literature review and new findings 眼底血管内大 B 细胞淋巴瘤:文献回顾与新发现。
IF 4.4 3区 医学 Q1 Medicine Pub Date : 2024-03-01 DOI: 10.1016/j.apjo.2024.100053
Eduardo Roditi , Shyam Panicker , Adrian T. Fung

Purpose

Intravascular large B-cell lymphoma (IVLBCL) is an extremely rare, aggressive, multi-system disease that can affect the eye. We describe the ophthalmic presentation, multimodal imaging and treatment response of uveal IVLBCL.

Methods

Review and case report.

Results

Twenty-five published cases of IVLBCL involving the eye including our own were identified. Of these, 15 patients (60%) had clinically-detectable intraocular involvement, 6 (24%) had extraocular ophthalmic involvement only and 4 (16%) had subclinical, undiagnosed intraocular involvement that was retrospectively detected on post-mortem ocular histopathology. The male to female ratio was 1.08:1 with a mean presenting age of 65.1 ± 11.7 years (range 38–82 years). The majority of cases had bilateral involvement (21/25 patients, 84%). Extraocular manifestations included diplopia, ptosis and ophthalmoplegia. Intraocular manifestations included serous retinal detachment (13/28, 46%), retinal hemorrhages (9/28, 32%), vascular changes (9/28, 32%), retinal pigment epithelial changes (7/28, 25%), thickened choroid (6/28, 21%), vitritis (5/28, 17%), cotton-wool spots (3/28, 10%), and a subretinal lesion (1/28, 3%). Histopathological diagnosis was most commonly confirmed on post-mortem enucleation (8/25 patients, 32%), skin (6/25 patients, 24%) or brain biopsy (6/25 patients, 24%).

Conclusion

The presence of intra-retinal hemorrhages, cotton wool spots and/or Roth spots help differentiate IVLBCL from other similarly presenting diseases such as central serous chorioretinopathy and Vogt-Koyanagi-Harada disease. New signs not previously described in IVLBCL include macular bacillary layer detachment and hypo-cyanescent spots on ultra-wide field indocyanine green angiography. The diagnosis is elusive and requires tissue biopsy, but systemic chemotherapy and rituximab can lead to rapid improvement of the eye.

目的:血管内大B细胞淋巴瘤(IVLBCL)是一种极为罕见的侵袭性多系统疾病,可累及眼部。我们描述了葡萄膜 IVLBCL 的眼部表现、多模态成像和治疗反应:方法:综述和病例报告:结果:共发现25例已发表的涉及眼部的IVLBCL病例,包括我们自己的病例。其中,15例患者(60%)临床上可检测到眼内受累,6例(24%)仅有眼外受累,4例(16%)有亚临床、未诊断的眼内受累,在死后眼部组织病理学检查中被回顾性发现。男女比例为 1.08:1,平均发病年龄为 65.1 ± 11.7 岁(38-82 岁不等)。大多数病例为双侧受累(21/25 例,84%)。眼外表现包括复视、上睑下垂和眼肌麻痹。眼内表现包括浆液性视网膜脱离(13/28,46%)、视网膜出血(9/28,32%)、血管病变(9/28,32%)、视网膜色素上皮病变(7/28,25%)、脉络膜增厚(6/28,21%)、玻璃体炎(5/28,17%)、棉絮斑(3/28,10%)和视网膜下病变(1/28,3%)。组织病理学诊断最常见的是通过死后去核(8/25 例患者,32%)、皮肤(6/25 例患者,24%)或脑活检(6/25 例患者,24%)证实:结论:视网膜内出血、棉絮斑和/或罗斯斑的出现有助于将 IVLBCL 与其他类似表现的疾病(如中央浆液性脉络膜视网膜病变和 Vogt-Koyanagi-Harada 病)区分开来。IVLBCL 以前从未描述过的新体征包括黄斑棘层脱落和超宽视野吲哚青绿血管造影上的低青斑。这种疾病难以诊断,需要进行组织活检,但全身化疗和利妥昔单抗可使眼部情况迅速好转。
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引用次数: 0
An optimized 3T MRI scan protocol to assess iris melanoma with subsequent histopathological verification – A prospective study 评估虹膜黑色素瘤并随后进行组织病理学验证的优化 3T 磁共振成像扫描方案--一项前瞻性研究。
IF 4.4 3区 医学 Q1 Medicine Pub Date : 2024-03-01 DOI: 10.1016/j.apjo.2024.100047
Joevy Z. Lim , Akilesh Gokul , Stuti L. Misra , Xingzheng Pan , Amanda Charlton , Charles N.J. McGhee

Introduction

Magnetic resonance imaging (MRI) has demonstrated high levels of tissue contrast, accuracy and reproducibility in evaluating posterior uveal melanoma. Owing to smaller size, the role of MRI in detecting and characterising iris melanoma has not yet been explored. Aims: To develop a protocol to image iris melanoma and describe the MRI characteristics of histopathological-confirmed iris melanoma.

Materials and methods

An optimised MRI protocol, using a 3T MRI scanner and a 32-channel head coil, was developed to image iris tumours. A prospective, single-centre, 12-month study was conducted on all patients with lesions suspicious for iris melanoma. All patients were offered an MRI scan in addition to the standardised clinical procedures. Image quality comparison was made with existing clinical investigations. Iris melanoma characteristics on MRI are described.

Results

A successful optimised MRI scan protocol was developed that was able to detect and characterise iris melanoma. One normal participant and five patients with subsequent histopathological-confirmed iris melanoma (n = 6) were recruited. Four patients completed the full MRI sequence. All iris melanoma were detected on at least one T1- or T2-weighted images. When compared to the vitreous, all iris melanomas demonstrated hyper-intensity on T1-weighted images and hypo-intensity on T2-weighted images. On T1-mapping, T1-values of iris melanoma demonstrated an inverse relationship with the degree of tumour pigmentation.

Conclusions

This study highlights an optimised, easily reproducible MRI scan protocol to image iris melanoma. Numerous MR imaging characteristics of iris melanoma are reported for the first time and a potential non-invasive tumour biomarker is described.

介绍:磁共振成像(MRI)在评估后葡萄膜黑色素瘤时已显示出较高的组织对比度、准确性和可重复性。目的:制定虹膜黑色素瘤成像方案,并描述组织病理学证实的虹膜黑色素瘤的磁共振成像特征:使用 3T 磁共振成像扫描仪和 32 通道头部线圈,制定了一套优化的磁共振成像方案,用于对虹膜肿瘤进行成像。对所有疑似虹膜黑色素瘤的患者进行了为期 12 个月的前瞻性单中心研究。除标准化临床程序外,所有患者都接受了磁共振成像扫描。图像质量与现有的临床检查结果进行了比较。结果:结果:成功制定了优化的核磁共振成像扫描方案,能够检测出虹膜黑色素瘤并确定其特征。研究人员招募了一名正常参与者和五名组织病理学确诊的虹膜黑色素瘤患者(n = 6)。四名患者完成了整个核磁共振成像序列。所有虹膜黑色素瘤都至少在一张T1或T2加权图像上被检测到。与玻璃体相比,所有虹膜黑色素瘤在T1加权图像上都表现为高强度,而在T2加权图像上则表现为低强度。在 T1 映射中,虹膜黑色素瘤的 T1 值与肿瘤色素沉着程度呈反比关系:本研究强调了一种优化的、易于重复的磁共振成像扫描方案,用于对虹膜黑色素瘤进行成像。该研究首次报道了虹膜黑色素瘤的许多磁共振成像特征,并描述了一种潜在的非侵入性肿瘤生物标记物。
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引用次数: 0
期刊
Asia-Pacific Journal of Ophthalmology
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