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Cogan- Reese Syndrome: A Variant of Iridocorneal Endothelial Syndrome Cogan- Reese综合征:虹膜角膜内皮综合征的一种变体
Pub Date : 2018-05-21 DOI: 10.7869/DJO.366
G. Praveena, M. Medikonda, Nandish Mashru
Iridocorneal Endothelial Syndrome (ICE) is a unique ophthalmic disorder characterized by the presence of an abnormal corneal endothelium which leads to varying degrees of corneal edema, progressive iris atrophy and secondary angle closure glaucoma without pupillary block. Cogan Reese syndrome is one of the three clinical variants of Iridocorneal Endothelial Syndrome (ICE) characterized by nodular, pigmented lesions of the iris which are hallmark, and may be seen with the entire spectrum of corneal and other iris defects. Secondary glaucoma is the main sight threatening complication. Management depends on severity of ocular findings and is targeted to control secondary glaucoma medically and surgically. We hereby report two middle aged male patients who were diagnosed to have the Cogan-Reese variant of ICE Syndrome based on clinical findings.
虹膜角膜内皮综合征(ICE)是一种独特的眼部疾病,其特征是角膜内皮异常,导致不同程度的角膜水肿,进行性虹膜萎缩和继发性闭角型青光眼,无瞳孔阻滞。Cogan Reese综合征是虹膜角膜内皮综合征(ICE)的三种临床变体之一,其特征是虹膜的结节性色素病变,这是标志性的,可以在整个角膜和其他虹膜缺陷中看到。继发性青光眼是影响视力的主要并发症。治疗取决于眼部发现的严重程度,目标是通过医学和手术控制继发性青光眼。我们在此报告两名中年男性患者,他们根据临床表现被诊断为Cogan-Reese变体ICE综合征。
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引用次数: 0
Study of A Family with Clinical Features and Inheritance Pattern of Nance Horan Syndrome 南斯霍兰综合征1个家族临床特征及遗传模式的研究
Pub Date : 2018-05-21 DOI: 10.7869/DJO.365
S. Patil, K. Jain, J. M. Manoher, Vimla Beniwal
Congenital cataract has various modes of inheritance. In Nance Horan syndrome, X linked recessive pattern of inheritance of congenital cataract is seen. Protein truncation mutation in an NHS gene located on Xp21.2-p22.3. could be associated with this syndrome. We report a case of Nance Horan syndrome family with bilateral congenital cataract with microcornea, strabismus, nystagmus, mental retardation, dysmorphic facies and dental anomalies. Treatment consists of surgery for cataract extraction, although results are poor.
先天性白内障具有多种遗传方式。在Nance Horan综合征中,可见先天性白内障的X连锁隐性遗传模式。位于Xp21.2-p22.3的NHS基因的蛋白截断突变。可能与这种综合症有关。我们报告一例Nance - Horan综合征家族合并双侧先天性白内障,并伴有小角膜、斜视、眼球震颤、智力低下、畸形相及牙齿异常。治疗方法包括白内障摘除手术,但效果不佳。
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引用次数: 0
A Retinal Surprise 视网膜惊喜
Pub Date : 2018-05-20 DOI: 10.7869/DJO.362
A. Chauhan
We report a case of a 48 year old asymptomatic male who came to us for routine ocular examination but was diagnosed with retinal vasoproliferative tumour(VPT) and angioid streak.Retinal vasoproliferative tumours(VPTs) are a rare entity and after an extensive search on the internet, this is probably and to the best of our knowledge,the first reported case of VPT in association with angioid streak.
我们报告一个48岁无症状男性的病例,他来我们进行常规眼科检查,但被诊断为视网膜血管增殖性肿瘤(VPT)和血管样条纹。视网膜血管增生性肿瘤(VPT)是一种罕见的实体,在互联网上广泛搜索后,据我们所知,这可能是第一例报道的VPT与血管样条纹相关的病例。
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引用次数: 0
Management Of Stargardt’s Disease Through Ayurvedic Science 通过阿育吠陀科学管理Stargardt病
Pub Date : 2018-05-20 DOI: 10.7869/djo.360
S. Shaw, M. N. Apoorva, K. Sujathamma
Stargardt’s disease is a hereditary disorder of the retina. There is a gradual loss of vision during childhood or adolescence and in a few cases, vision loss may be noticed in adulthood. Involvement of photoreceptor cells presents slow loss of central vision, distorted vision and reduced color vision. Mutations in ABCA4 gene following accumulation of lipofuscin within the retinal pigment epithelium is a causative factor of the disease. Beaten bronze reflex or Snail slime reflex from the macula is the typical clinical presentation. The signs & symptoms like Avila darshana (Blurred vision) and Vyavidha darshana (distorted vision) which are mentioned in Ayurvedic classics in the context of the disease Timira, can be correlated with the clinical manifestation of Stargardt’s disease. Currently, there is no effective treatment in contemporary science for Stargardt’s disease except for gene therapy and stem cell therapy. Hence, the present clinical study was undertaken in order to understand and manage the Stargardt’s disease, with Ayurvedic treatment modalities like Virechana (Therapeutic purgative), Tarpana (Ocular therapy used to treat posterior segment disorders) and Nasya (Errhine therapy). A 25 years old male patient diagnosed with Stargardt’s disease was advised to undergo Virechana with Trivrit lehyam (A linctus made of Operculina turpethum), Nasya with Ksheerabala taila (A medicated oil prepared from Sida cordifolia and sesame oil processed with medicinal herbs) and Tarpana with Mahatriphaladi ghrita (Medicated ghee prepared out of Emblica officinalis, Terminalia bellirica, Terminalia chebula and other medicated herbs) for a course of 26 days. There was marked improvement in vision after the treatment and the results proved to be significant on the basis of clinical assessment. Abstract (fundamental units of body as per Ayurveda) vitiation which in turn produced lakshanas (signs and symptoms) like Avila darshana (blurred vision) and Vyavidha darshana (distorted vision) causing the disease. The Virechana (therapeutic purgative) and Nasya (Errhine therapy- where medicated oil is instilled in nostrils) adopted here mainly alleviate vata and pitta (Fundamental units of body as per Ayurveda) along with expulsion of morbid doshas (can be correlated with exudates) and Tarpana (ocular therapy used to treat posterior segment disorders where medicated ghee is kept over the eye for specific duration) strengthens ocular tissues and improves vision.
Stargardt病是一种遗传性视网膜疾病。在儿童或青少年时期,视力逐渐丧失,在少数情况下,在成年期可能会注意到视力丧失。光感受器细胞的参与表现为中心视觉缓慢丧失,视觉扭曲和色觉降低。视网膜色素上皮内脂褐素积累引起的ABCA4基因突变是该疾病的一个致病因素。黄斑的青铜反射或蜗牛粘液反射是典型的临床表现。阿育吠陀经典中提到的阿育吠陀经典中提到的Avila darshaa(视力模糊)和Vyavidha darshaa(视力扭曲)等体征和症状可以与Stargardt病的临床表现相关联。目前,在当代科学中,除了基因治疗和干细胞治疗外,尚无有效的治疗Stargardt病的方法。因此,目前的临床研究是为了了解和管理Stargardt病,使用阿育吠陀治疗方式,如Virechana(治疗性泻药),Tarpana(用于治疗后段疾病的眼部治疗)和Nasya (Errhine治疗)。一名确诊为Stargardt病的25岁男性患者被建议服用含有Trivrit lehyam(一种由大蓟草制成的油)的Virechana,含有Ksheerabala taila(一种用药用草药加工的Sida cordifolia和香油制备的药油)的Nasya和含有Mahatriphaladi ghrita(用药用草药制备的药油)的Tarpana,疗程为26天。治疗后视力有明显改善,临床评价效果显著。摘要(根据阿育吠陀的基本身体单位)污染,反过来产生lakshanas(迹象和症状),如Avila darshaa(视力模糊)和Vyavidha darshaa(视力扭曲)导致疾病。这里采用的Virechana(治疗性泻药)和Nasya(将药油注入鼻孔的erhine疗法)主要缓解vata和pitta(阿育吠陀的基本身体单位),同时排出病态的dosha(可以与渗出物相关)和Tarpana(用于治疗后段疾病的眼部疗法,将药油在眼睛上保持特定的时间),加强眼部组织并改善视力。
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引用次数: 1
Optic Disc Pit with An Atypical Presentation 视盘凹陷不典型表现
Pub Date : 2018-05-20 DOI: 10.7869/DJO.361
N. Arora, Aniket Patel
Optic Disc Pit (ODP) results from an imperfect closure of the superior edge of the embryonic fissure, usually associated with macular serous detachment. In our case report, we are presenting optic disc pit with a multilayered separation involving the nerve fibre layer and the outer plexiform layer along with neurosensory detachment.
视盘窝(ODP)是由于胚胎裂的上缘不完全闭合造成的,通常与黄斑浆液脱离有关。在我们的病例报告中,我们报告了视盘凹陷的多层分离,包括神经纤维层和外丛状层,以及神经感觉脱离。
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引用次数: 1
Congenital Glaucoma with Neurofibromatosis Type-I A Rare Occurrence 先天性青光眼合并i - A型神经纤维瘤病少见
Pub Date : 2018-05-20 DOI: 10.7869/djo.363
Vankireddi Mahathi, S. Karanam, M. Medikonda
Neurofibromatosis 1 (NF1) is a rare genodermatoses in which there is involvement of the skin, eye, peripheral nervous system and skeletal system. Congenital glaucoma occurs in 1 in 300 NF1 patients. A 6 year old boy presented to us with defective vision in the left eye since 4 years. On examination the child had, café-au-lait spots, reduced visual acuity, Lisch nodules, increased corneal diameter, with glaucomatous cupping of optic nerve. Based on these findings, a diagnosis of congenital glaucoma with NF1 was made. The child was started on anti glaucoma medication for which he was non compliant and hence trabeculectomy was performed and the pressures are being maintained till date. Hence, if the diagnosis of NF1 is made, eye examinations are recommended in children for early detection of increased intraocular pressure or other ophthalmological manifestations and to reduce visual morbidity.
1型神经纤维瘤病(NF1)是一种罕见的遗传性皮肤病,累及皮肤、眼睛、周围神经系统和骨骼系统。先天性青光眼发生率为1 / 300的NF1患者。一名六岁男童,左眼视力缺损4年。经检查,孩子有卡萨梅-奥莱斑,视力下降,利希结节,角膜直径增加,视神经青光眼火杯。基于这些发现,诊断为先天性青光眼伴NF1。该儿童开始服用抗青光眼药物,但他不适应,因此进行了小梁切除术,并一直维持到今天。因此,如果确诊为NF1,建议对儿童进行眼科检查,以早期发现眼压升高或其他眼科表现,并减少视力发病率。
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引用次数: 0
Bilateral Shallow Anterior Chamber And Transient Myopia As A Presenting Feature Of Vogt Koyanagi Harada Syndrome 双侧浅前房和短暂性近视:Vogt Koyanagi Harada综合征的表现特征
Pub Date : 2018-05-20 DOI: 10.7869/DJO.357
Rahul Sharma, Abhishek Dagar, Vivek Kumar
The Vogt-Koyanagi-Harada (VKH) syndrome is a rare systemic disorder of uveitis, dysacousia, vitiligo, premature greying of the hair, eyebrow and eyelashes, and meningoencephalitis. We report a case of a 36 year old type 2 diabetic patient who presented with sudden, painless, progressive blurring of vision in both eyes with shallow anterior chamber and transient myopia. He had history of headache, mild fever, malaise with stiffness in neck and back one week before blurring of vision. Exudative retinal detachment on fundus examination along with optical coherence tomography (OCT) features and fundus fluorescein angiogram (FFA) pattern confirmed our diagnosis as incomplete VKH. The patient responded well with steroid (systemic and topical) and cycloplegic drug. This case highlights the importance of history, careful ocular evaluation, judicious use of OCT and FFA in a patient presenting with bilateral shallow anterior chamber and transient myopia to narrow down the differential diagnosis as incomplete VKH. both eye myopic refraction. Anterior segment of both shallow anterior inflammatory uveitis Posterior segment had mild vitritis in both eyes. In both the eyes, applanation tonometry was 18 millimeters of mercury. Schwalbe’s line was visible on gonioscopy in both eyes and on indentation the angles opened up to scleral spur. Fundus showed multilobular areas of subretinal fluid pockets (exudative retinal detachment) at the posterior pole and mid periphery with creamy yellow choroidal lesions, clinically suggestive of exudative pathology. There were no signs of diabetic retinopathy. On laboratory investigations, complete blood count was within normal limits, erythrocyte sedimentation rate (ESR) was 20mm/hour, Mantoux skin test was negative (3x3 mm), human immune deficiency virus (HIV) and Treponemal pallidum haemagglutination assay (TPHA) were non reactive. Serum angiotensin converting enzyme (ACE) was 24 IU (normal). Chest X ray, HRCT Chest, USG of whole abdomen was normal. Optical coherence tomography at macula of both eyes showed multiple areas of neurosensory detachment with largest volume and subfield thickness at macula & fluorescein angiogram (FFA) of early and mid-phase showed multiple hyperfluorescent Abstract
Vogt-Koyanagi-Harada (VKH)综合征是一种罕见的系统性疾病,包括葡萄膜炎、听觉障碍、白癜风、头发、眉毛和睫毛过早变白以及脑膜脑炎。我们报告一例36岁的2型糖尿病患者,其表现为突然,无痛,双眼进行性视力模糊,浅前房和短暂性近视。患者有头痛、轻度发热、颈部和背部僵硬的病史,一周后视力模糊。眼底检查的渗出性视网膜脱离、光学相干断层扫描(OCT)特征和眼底荧光素血管造影(FFA)模式证实了我们的诊断为不完全性VKH。患者对类固醇(全身和局部)和睫状体麻痹药物反应良好。本病例强调对双侧浅前房和短暂性近视患者的病史、仔细的眼部评估、明智地使用OCT和FFA的重要性,以缩小不完全VKH的鉴别诊断范围。双眼近视屈光。双眼浅前炎性葡萄膜炎后段双眼轻度玻璃体炎。两只眼睛的压平血压计是18毫米汞柱。在两眼的角膜镜检查中都能看到Schwalbe线,在凹痕上,角向巩膜刺开放。眼底后极及中周可见多小叶性视网膜下液袋(渗出性视网膜脱离),伴乳黄色脉络膜病变,临床提示渗出性病理。没有糖尿病视网膜病变的迹象。实验室检查,全血细胞计数正常,红细胞沉降率(ESR)为20mm/h, Mantoux皮肤试验阴性(3x3 mm),人类免疫缺陷病毒(HIV)和梅毒螺旋体血凝试验(TPHA)无反应。血清血管紧张素转换酶(ACE) 24iu(正常)。胸部X线、HRCT胸部、全腹USG正常。双眼黄斑光学相干断层扫描显示黄斑处多处神经感觉脱离区,体积和亚场厚度最大;荧光素血管造影(FFA)早期和中期显示多发高荧光Abstract
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引用次数: 0
Inclusion Cell Disease - A Rare Cause of Megalocornea with Corneal Edema 包涵细胞病-一种罕见的大角膜伴角膜水肿的病因
Pub Date : 2018-05-20 DOI: 10.7869/DJO.354
Namrata, R. Ranjan, G. Arya
Introduction There are multiple causes of megalocornea and corneal edema in infantile age group. The common causes include birth trauma, Peter’s anomaly, limbal dermoid, sclerocornea, congenital hereditary endothelial dystrophy (CHED), mucopolysaccharidosis and infective/inflammatory process. It is important to consider congenital error of metabolism including mucopolysaccharidosis as an etiology for corneal edema/corneal clouding and megalocornea because these cases are rare and can be easily missed out if not evaluated properly. Case report A 11 month old male child presented with complaints of reduced weight gain, failure to thrive, recurrent respiratory infections and diarrhea. On clinical examination the patient showed coarse facies, flat face, prominent bulging eyes, large tongue, enlarged gums (Figure 1). Perinatal history was normal term vaginal delivery, and he was the first child of non-consanguineous marriage. Ophthalmological examination revealed megalocornea (horizontal corneal diameter of 16 mm – Figure 1) with corneal edema/corneal clouding. Anterior chamber was deep. No cherry red spots were seen on fundoscopic examination. Intra ocular pressure was within normal limits. On Gonioscopy, angles were open. On indirect ophthalmoscopy, the optic disc was of normal size, shape & colour. The optic cup was within normal limit. The neuroretinal rim was healthy. Retinal artery:vein ratio was maintained. The macula was healthy and the foveal reflex was present. MRI Brain was done which revealed T2 hyperintense signal involving cerebral white matter on either side uniformly involving both subcortical and periventricular white matter without abnormal T1 hypointense signal suggestive of Hypomyelination MRI is (Figure 2). T2 hypointense signal was seen in bilateral thalami (Figure 2). Therefore possibility of lysosomal storage disorder was considered. CT skull revealed premature fusion of cranial sutures suggestive of craniosynostosis (Figure 2). No anterior vertebral body beaking was noted on lateral X-Ray of dorsolumbar spine. X-Ray pelvis with femur revealed osteopenia with short thick femur (Figure 3). Ultrasonography of abdomen showed mild hepatosplenomegaly with liver Delhi J Ophthalmol 2018;28;40-1; Doi http://dx.doi.org/10.7869/djo.354 Abstract
婴幼儿大角膜和角膜水肿的病因多种多样。常见的病因包括出生创伤、彼得氏异常、角膜缘皮样病变、角膜硬结、先天性遗传性内皮营养不良(CHED)、粘多糖病和感染/炎症过程。考虑先天性代谢错误(包括粘多糖病)作为角膜水肿/角膜混浊和大角膜的病因是很重要的,因为这些病例很罕见,如果评估不当很容易被遗漏。病例报告一名11个月大的男婴以体重增加减少、发育不良、反复呼吸道感染和腹泻为主诉。临床检查:相粗,面平,眼突出突出,舌大,牙龈肿大(图1)。围产期正常,顺产足月,为非近亲婚生子。眼科检查显示大角膜(角膜水平直径16mm -图1)伴有角膜水肿/角膜混浊。前房深。眼底镜检查未见樱桃红点。眼压在正常范围内。在角镜检查中,角度是开放的。间接眼镜检查视盘大小、形状、颜色均正常。视杯在正常范围内。神经视网膜边缘健康。维持视网膜动静脉比。黄斑健康,有中央凹反射。脑MRI示T2高信号均匀累及两侧脑白质,同时累及皮层下和脑室周围白质,未见异常T1低信号提示髓鞘硬化MRI图(图2)。双侧丘脑可见T2低信号(图2),考虑溶酶体贮积障碍的可能性。颅骨CT显示颅缝过早融合提示颅缝闭合(图2)。腰背侧位x线未见椎体前突。骨盆伴股骨x线示骨质减少伴股骨短粗(图3)。腹部超声示轻度肝脾肿大伴肝。Delhi J Ophthalmol 2018;28;Doi http://dx.doi.org/10.7869/djo.354
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引用次数: 0
Corneal Ulcer Following Prolonged Topical Chloroquine Phosphate 长期外用磷酸氯喹引起角膜溃疡
Pub Date : 2018-05-20 DOI: 10.7869/djo.355
Samarth Mishra, Sudeep Das
Chloroquine and hydroxychloroquine are well known weapons in a rheumatologist’s armamentarium. Chloroquine, (N’-(7-chloroquinolin-4-yl)-N,N-diethyl-pentane-1,4-diamine) is an antimalarial drug which has been in use since the early 1950s, in the treatment of Discoid and Systemic Lupus Erythematoses, Rheumatoid Arthritis and dermal light sensitivity eruptions. Hobbs in 1959 recognised a retinopathy which was produced by the long-term administration of this drug. Since the proposal of its anti-inflammatory effect, chloroquine phosphate has been used for the treatment of dry eyes. Among the many side-effects following systemic use of chloroquine; pruritus, urticaria, alopecia, lymphedema of forearm, headache, nausea etc are noteworthy. Ophthalmological complications like bull’s eye maculopathy, keratopathy, corneal deposits have also been observed, although infrequently. Majority of the complications arise from the long-term use of the drug which leads to its accumulation in specific sites. Here, we present a rare case report of sterile corneal ulcer following prolonged use of preservative free topical chloroquine phosphate (0.03%w/v) in the form of unims. after
氯喹和羟氯喹是风湿病学家的武器。氯喹(N ' -(7-氯喹啉-4-基)-N,N-二乙基戊烷-1,4-二胺)是一种抗疟疾药物,自20世纪50年代初以来一直用于治疗盘状和系统性红斑狼疮、类风湿关节炎和皮肤光敏性皮疹。霍布斯在1959年发现了一种视网膜病变,这是由长期服用这种药物引起的。自发现其抗炎作用以来,磷酸氯喹一直被用于治疗干眼症。在系统使用氯喹后的许多副作用中;值得注意的是瘙痒、荨麻疹、脱发、前臂淋巴水肿、头痛、恶心等。眼科并发症,如牛眼黄斑病,角膜病变,角膜沉积也被观察到,虽然不常见。大多数并发症是由于长期使用该药物导致其在特定部位积聚而引起的。在这里,我们提出一个罕见的病例报告无菌角膜溃疡后,长期使用防腐剂游离局部磷酸氯喹(0.03%w/v)的形式单位。后
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引用次数: 2
External Ophthalmomyiasis By Sheep Nasal Bot Fly A-Rare Case Report From Tropical Region of India 由羊鼻蝇引起的外眼病——印度热带地区罕见病例报告
Pub Date : 2018-05-20 DOI: 10.7869/DJO.358
P. Agrawal, Varsha Yadav, V. Kathiriya, M. Kanhere
Myiasis is infection of tissues or organs of animals or man by larvae of a fly. Ophthalmomyiasis is classified as ophthalmomyiasis externa if the larvae are present on the conjunctiva, ophthalmomyiasis interna when there is intraocular penetration of larvae and orbital/ocular ophthalmomyiasis if larvae penetrate the orbit. This condition is rare in India, with no case reports from Mumbai. We report a rare case of Ophthalmomyiasis externa in a 25 year old male who presented with sudden onset foreign body sensation in his right eye, followed by intense watering, irritation and redness since 2 hours. Visual acuity was 6/6 and N6 in both eyes. The right eye showed superficial congestion for chemosis; and no evidence of a foreign body. On detailed examination, three motile larvae were found and removed from the conjunctiva, which were later identified as larvae of Oestrus ovis (Sheep nasal botfly). The patient was started on antihistaminics and antibiotics and showed improvement within 24 hours. Our case highlights two things – firstly, the importance of early detection of this condition by creating awareness amongst ophthalmologists as being one of the causes of conjunctivitis during spring/summer seasons especially in developing countries like India; and secondly, plain irrigation of the conjunctiva is unsuccessful in washing out of the larvae.
蝇蛆病是由苍蝇的幼虫感染动物或人的组织或器官。如果结膜上有眼病幼虫,则眼病分为外眼病、眼内眼病(幼虫侵入眼内)和眼眶/眼内眼病(幼虫侵入眼眶)。这种情况在印度很少见,没有来自孟买的病例报告。我们报告一例罕见的外源性眼肿病病例,患者为25岁男性,其右眼出现突发性异物感,2小时后出现剧烈流泪、刺激和发红。双眼视力为6/6,N6。右眼因化学淤血表现为浅表充血;也没有异物的痕迹。经详细检查,结膜内发现3只活动幼虫,经鉴定为羊鼻蝇幼虫。患者开始服用抗组胺药和抗生素,并在24小时内出现改善。我们的病例强调了两件事——首先,通过让眼科医生意识到结膜炎是春夏季结膜炎的原因之一,特别是在印度等发展中国家,早期发现这种疾病的重要性;其次,单纯的结膜冲洗是无法洗出幼虫的。
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引用次数: 0
期刊
The Official Scientific Journal of Delhi Ophthalmological Society
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