MCID: ELS001
MIFTS: 50

Eales Disease

Categories: Rare diseases, Cardiovascular diseases, Eye diseases

Aliases & Classifications for Eales Disease

MalaCards integrated aliases for Eales Disease:

Name: Eales Disease 49 55 51 69
Idiopathic Recurrent Vitreal Hemorrhage 49
Idiopathic Obliterative Vasculopathy 49
Idiopathic Retinal Perivasculitis 55
Idiopathic Retinal Vasculitis 55

Characteristics:

Orphanet epidemiological data:

55
eales disease
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

Orphanet 55 ORPHA40923
MESH via Orphanet 42 C538011
UMLS via Orphanet 70 C0271073
ICD10 via Orphanet 33 H35.0
UMLS 69 C0271073

Summaries for Eales Disease

NIH Rare Diseases : 49 Eales disease is a rare vision disorder that appears as an inflammation and white haze around the outercoat of the veins in the retina. This condition is most common among young males and normally affects both eyes. In most cases, vision becomes suddenly blurred because the vitreous, the clear jelly that fills the eyeball behind the lens of the eye, seeps out. Treatment includes corticosteroids in the inflammation stage and photocoagulation in the proliferative stage of the disease. Visual prognosis is good if treatment begins early in the course of the disease.  Last updated: 6/13/2011

MalaCards based summary : Eales Disease, also known as idiopathic recurrent vitreal hemorrhage, is related to retinal vasculitis and choroiditis. An important gene associated with Eales Disease is SOD1 (Superoxide Dismutase 1), and among its related pathways/superpathways are PEDF Induced Signaling and TGF-Beta Pathway. The drugs Ranibizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and endothelial, and related phenotypes are hematopoietic system and homeostasis/metabolism

Wikipedia : 72 Eales disease is a type of obliterative vasculopathy, also known as angiopathia retinae juvenilis,... more...

Related Diseases for Eales Disease

Diseases related to Eales Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 319)
# Related Disease Score Top Affiliating Genes
1 retinal vasculitis 30.7 NOS2 SAG SOD1
2 choroiditis 30.5 IL10 TNF
3 mycobacterium tuberculosis 1 30.2 IFNG IL10 IL4 TNF
4 allergic hypersensitivity disease 30.0 IFNG IL10 IL4
5 retinal ischemia 30.0 SOD1 TNF VEGFA
6 macular retinal edema 29.3 IL6 SERPINF1 VEGFA
7 irvan syndrome 12.0
8 punctate inner choroidopathy 10.6 IL10 TNF
9 microscopic polyangiitis 10.5 IL10 TNF
10 multifocal choroiditis 10.5 IL10 TNF
11 autoimmune myocarditis 10.5 IFNG TNF
12 transient hypogammaglobulinemia 10.5 IL10 TNF
13 meningitis and encephalitis 10.5 CP SOD1
14 sporotrichosis 10.5 IFNG IL10
15 chronic beryllium disease 10.5 IFNG TNF
16 trichosporonosis 10.4 IFNG TNF
17 clonorchiasis 10.4 IFNG IL10 TNF
18 spotted fever 10.4 IFNG IL10 TNF
19 mycoplasmal pneumonia 10.4 IFNG IL4
20 lepromatous leprosy 10.4 IFNG IL10 TNF
21 tympanosclerosis 10.4 NOS2 TNF
22 peyronie disease 10.3 NOS2 SOD1
23 plasmodium falciparum malaria 10.3 IFNG IL10 TNF
24 immunoglobulin a deficiency 1 10.3 IL10 IL4
25 skin sarcoidosis 10.3 SERPINF1 TNF
26 retinitis 10.3
27 idiopathic achalasia 10.3 IL10 NOS2 TNF
28 scorpion envenomation 10.3 IL6 TNF
29 hemophagocytic lymphohistiocytosis 10.3 IFNG IL10 TNF
30 primary peritoneal carcinoma 10.3 IFNG IL10 VEGFA
31 soft tissue sarcoma 10.3 IFNG TNF VEGFA
32 eye lymphoma 10.2 IL10 IL6
33 angioimmunoblastic lymphadenopathy with dysproteinemia 10.2 IL6 TNF
34 hyperlucent lung 10.2 IFNG IL10 IL4
35 tropical endomyocardial fibrosis 10.2 IL10 IL4 TNF
36 celiac disease 1 10.2 IFNG IL10 TNF
37 acute transverse myelitis 10.2 IL10 IL6
38 baylisascariasis 10.2 IFNG IL10 IL4
39 buruli ulcer 10.2 IFNG IL10 IL4
40 tungiasis 10.2 IL10 IL4 TNF
41 retinitis pigmentosa 22 10.2 IL10 IL4
42 endomyocardial fibrosis 10.2 IL10 IL4 TNF
43 aceruloplasminemia 10.2 CP SOD1 TF
44 radiation proctitis 10.2 TF TNF VEGFA
45 streptococcal toxic-shock syndrome 10.2 IL6 TNF
46 paranasal sinus disease 10.2 IFNG IL10 IL4
47 null-cell leukemia 10.2 IL6 TNF
48 lichen disease 10.2 IFNG IL4 TNF
49 nose disease 10.2 IL10 IL4 TNF
50 penicillin allergy 10.2 IFNG IL4

Graphical network of the top 20 diseases related to Eales Disease:



Diseases related to Eales Disease

Symptoms & Phenotypes for Eales Disease

MGI Mouse Phenotypes related to Eales Disease:

43 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.3 IL4 NOS2 IL6 IL10 CP IFNG
2 homeostasis/metabolism MP:0005376 10.29 IL4 NOS2 IL6 CP IL10 IFNG
3 cardiovascular system MP:0005385 10.28 NOS2 IL6 CP IL10 IFNG IL1B
4 growth/size/body region MP:0005378 10.24 IL6 IL4 NOS2 IL1B IL10 IFNG
5 immune system MP:0005387 10.24 IL4 NOS2 IL6 CP IL10 IFNG
6 cellular MP:0005384 10.23 IL6 IL4 NOS2 CP IL10 IFNG
7 endocrine/exocrine gland MP:0005379 10.2 IL4 NOS2 IL6 IL10 IFNG SOD1
8 digestive/alimentary MP:0005381 10.16 IL4 NOS2 IL6 IL10 IFNG SERPINF1
9 integument MP:0010771 10.13 IL4 NOS2 IL6 IL10 IFNG IL1B
10 mortality/aging MP:0010768 10.13 IL6 IL4 NOS2 IL1B IFNG IL10
11 nervous system MP:0003631 10.13 NOS2 IL6 RBP3 IL4 IL10 CP
12 craniofacial MP:0005382 10.11 IL4 NOS2 IL1B IL10 IFNG TNF
13 liver/biliary system MP:0005370 10.11 IL4 NOS2 IL6 IL10 CP IFNG
14 neoplasm MP:0002006 9.97 NOS2 IL6 IL10 IFNG IL1B VEGFA
15 muscle MP:0005369 9.95 IL6 NOS2 IL10 IFNG SOD1 TNF
16 reproductive system MP:0005389 9.91 IL4 NOS2 IL6 IL10 IFNG SOD1
17 respiratory system MP:0005388 9.7 IL4 NOS2 IL6 IL10 IFNG TNF
18 skeleton MP:0005390 9.65 IL4 NOS2 IL6 IL10 IFNG IL1B
19 vision/eye MP:0005391 9.4 NOS2 IL6 RBP3 IL4 IL10 CP

Drugs & Therapeutics for Eales Disease

Drugs for Eales Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 2, Phase 3 347396-82-1 459903
2 Angiogenesis Inhibitors Phase 2, Phase 3
3 Angiogenesis Modulating Agents Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Lucentis (Ranibizumab) for Eales' Disease Completed NCT00384449 Phase 2, Phase 3 Ranibizumab

Search NIH Clinical Center for Eales Disease

Genetic Tests for Eales Disease

Anatomical Context for Eales Disease

MalaCards organs/tissues related to Eales Disease:

38
Retina, Eye, Endothelial, Thyroid, Monocytes

Publications for Eales Disease

Articles related to Eales Disease:

(show top 50) (show all 70)
# Title Authors Year
1
Unilateral Eales' disease a case report. ( 29450389 )
2017
2
Long-Term Outcomes of a Large Cohort of Patients with Eales' Disease. ( 28448727 )
2017
3
A rare presentation of exudative macroaneurysms in unilateral Eales' disease. ( 29022965 )
2017
4
Role of high-resolution computerized tomography chest in identifying tubercular etiology in patients diagnosed as Eales' disease. ( 28101723 )
2017
5
Detection of Mycobacterium tuberculosis with nested polymerase chain reaction analysis in enucleated eye ball in Eales' disease. ( 26499903 )
2016
6
Localization of Human Copper Transporter 1 in the Eye and its Role in Eales Disease. ( 26807780 )
2016
7
Steroid-responsive painful ophthalmoplegia: Tolosa-Hunt syndrome, Eales disease, or both? ( 26842710 )
2016
8
Eales Disease. ( 28586583 )
2016
9
Ultra-wide field angiography in the management of Eales disease. ( 27609162 )
2016
10
Association of Mycobacterium tuberculosis in the causation of Eales' disease: an institutional experience. ( 25657155 )
2015
11
Angiogenic potential of vitreous from proliferative diabetic retinopathy and eales' disease patients. ( 25310689 )
2014
12
Eales disease: no typical clinical presentation. ( 25374641 )
2014
13
Increased homocysteine, homocysteine-thiolactone, protein homocysteinylation and oxidative stress in the circulation of patients with Eales' disease. ( 23761385 )
2013
14
Combination of intravitreal bevacizumab and peripheral photocoagulation: an alternative treatment in eales disease. ( 24600639 )
2013
15
Profiling of human leukocyte antigens in Eales disease and tuberculosis. ( 23386050 )
2013
16
Eales' disease - current concepts in diagnosis and management. ( 23514227 )
2013
17
Eales' disease with neurological complications. ( 24005742 )
2013
18
Surgical outcomes of minimally invasive vitrectomy surgery in Eales' disease. ( 24172552 )
2013
19
Eales' disease following hypothyroidism secondary to Hashimotos thyroiditis. ( 23198627 )
2012
20
Vitreopapillary and vitreomacular traction in proliferative Eales' disease. ( 23109416 )
2012
21
Protein-ligand interaction studies of retinol-binding protein 3 with herbal molecules using AutoDock for the management of Eales' disease. ( 24376904 )
2012
22
The use of a vascular endothelial growth factor inhibitor (ranibizumab) in macular edema due to eales disease. ( 25390730 )
2012
23
Secondary rhegmatogenous retinal detachment following intravitreal bevacizumab in patients with vitreous hemorrhage or tractional retinal detachment secondary to Eales' disease. ( 22169980 )
2012
24
Quantitative polymerase chain reaction for Mycobacterium tuberculosis in so-called Eales' disease. ( 22486260 )
2012
25
Eales disease associated with serpiginous choroiditis. ( 23143459 )
2012
26
Intravitreal bevacizumab as an adjunct to vitrectomy in advanced Eales' disease. ( 22089976 )
2012
27
Elevated tumor necrosis factor in serum is associated with increased retinal ischemia in proliferative eales' disease. ( 21849807 )
2011
28
Impact of interleukin-6 promoter polymorphism and serum interleukin-6 level on the acute inflammation and neovascularization stages of patients with Eales' disease. ( 22025890 )
2011
29
Case report: ampiginous chorioretinopathy associated with eales disease in a patient with presumed tuberculosis. ( 25390176 )
2011
30
Association of interferon-gamma, interleukin-10, and tumor necrosis factor-alpha gene polymorphisms with occurrence and severity of Eales' disease. ( 20720222 )
2011
31
Assessment of gelatinase and tumor necrosis factor-I+ level in the vitreous and serum of patients with Eales disease: role of inflammation-mediated angiogenesis in the pathogenesis of Eales disease. ( 21394064 )
2011
32
Role of intravitreal bevacizumab in Eales disease with dense vitreous hemorrhage: a prospective randomized control study. ( 21301382 )
2011
33
Serum interferon-gamma/interleukin-4 imbalance in patients with Eales' disease. ( 20533927 )
2010
34
Antioxidant supplementation improves platelet membrane fluidity in idiopathic retinal periphlebitis (Eales' disease). ( 20973744 )
2010
35
Ratio of the vitreous vascular endothelial growth factor and pigment epithelial-derived factor in Eales disease. ( 20072643 )
2009
36
Spontaneous relief of vitreomacular traction and regression of neovascularization in eales disease after intravitreal injection of bevacizumab. ( 25391054 )
2009
37
Interleukin-1 and tumor necrosis factor-alpha: novel targets for immunotherapy in Eales disease. ( 19585364 )
2009
38
Proinflammatory cytokines and angiogenic and antiangiogenic factors in vitreous of patients with proliferative diabetic retinopathy and Eales' disease (ED). ( 18936719 )
2009
39
Intravitreal injection of bevacizumab in Eales disease. ( 18379947 )
2008
40
Proinflammatory cytokines and angiogenic and anti-angiogenic factors in vitreous of patients with proliferative diabetic retinopathy and eales' disease. ( 18536597 )
2008
41
Respiratory disease in the ophthalmology department. Diagnosis: retinal vasculitis associated with tuberculoprotein hypersensitivity (Eales' disease). ( 17536031 )
2007
42
Rapid regression of disc and retinal neovascularization in a case of Eales disease after intravitreal bevacizumab. ( 17392871 )
2007
43
Intravitreal steroids may facilitate treatment of Eales' disease (idiopathic retinal vasculitis): an interventional case series. ( 16980931 )
2007
44
Eales' disease: oxidant stress and weak antioxidant defence. ( 17322597 )
2007
45
Increase in Fe3+/Fe2+ ratio and iron-induced oxidative stress in Eales disease and presence of ferrous iron in circulating transferrin. ( 17852192 )
2007
46
Association of retinal vasculitis (Eales' disease) and Meniere-like vestibulocochlear symptoms. ( 16133465 )
2006
47
Intravitreal triamcinolone acetonide in Eales disease. ( 16467685 )
2006
48
Decreased platelet membrane fluidity in retinal periphlebitis in Eales' disease. ( 16597541 )
2006
49
HLA typing in patients of Eales disease. ( 15907240 )
2005
50
Determination of carbonyl group content in plasma proteins as a useful marker to assess impairment in antioxidant defense in patients with Eales' disease. ( 15283219 )
2004

Variations for Eales Disease

Expression for Eales Disease

Search GEO for disease gene expression data for Eales Disease.

Pathways for Eales Disease

Pathways related to Eales Disease according to GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 IFNG IL10 IL1B IL4 IL6 NOS2
2
Show member pathways
13.52 IFNG IL10 IL1B IL4 IL6 TNF
3
Show member pathways
13.39 IFNG IL10 IL1B IL4 IL6 NOS2
4
Show member pathways
12.96 CP IL1B IL6 NOS2 TNF
5
Show member pathways
12.91 IFNG IL10 IL1B IL4 IL6 TNF
6 12.85 IFNG IL4 IL6 NOS2 VEGFA
7
Show member pathways
12.82 IFNG IL1B IL4 IL6 TNF
8
Show member pathways
12.67 IFNG IL10 IL1B IL4 IL6 TNF
9
Show member pathways
12.66 IFNG IL10 IL1B IL6 NOS2 TNF
10 12.61 IFNG IL10 IL1B IL4 TNF
11
Show member pathways
12.6 IFNG IL10 IL1B IL6 NOS2 TNF
12
Show member pathways
12.5 IFNG IL10 IL1B IL4 IL6 TNF
13
Show member pathways
12.41 IFNG IL1B IL4 IL6 TNF
14
Show member pathways
12.4 IFNG IL10 IL4 IL6
15
Show member pathways
12.4 IFNG IL1B IL4 IL6 SOD1 TNF
16
Show member pathways
12.35 IFNG IL1B IL6 NOS2 TNF
17
Show member pathways
12.32 IFNG IL10 IL1B IL4 NOS2 TNF
18 12.27 IFNG IL6 NOS2 TNF VEGFA
19 12.27 IFNG IL10 IL1B IL6 NOS2 TNF
20
Show member pathways
12.2 IFNG IL1B IL4 IL6 NOS2 TNF
21 12.18 IL10 IL1B IL6 TF TNF VEGFA
22
Show member pathways
12.16 IFNG IL10 IL1B IL4 IL6 TNF
23 12.15 IFNG IL1B TNF VEGFA
24 12.09 IFNG IL10 IL4 IL6 TNF
25
Show member pathways
12.05 IFNG IL1B IL4 NOS2
26 12.03 IFNG IL1B TNF
27
Show member pathways
12.02 IFNG IL10 IL1B IL6 TNF
28 12 IFNG IL6 NOS2 TF VEGFA
29 11.99 IL1B IL6 TNF VEGFA
30 11.98 IL1B IL4 IL6 TNF
31 11.96 IFNG IL1B IL4 IL6 NOS2 TNF
32 11.95 IL1B IL6 TNF
33 11.94 IFNG IL1B IL6
34
Show member pathways
11.94 IFNG IL1B IL4 IL6
35 11.94 IFNG IL1B IL6 TNF VEGFA
36 11.91 IFNG IL1B IL6 NOS2
37 11.88 IFNG IL10 IL1B IL4 TNF
38 11.84 IL10 IL1B IL6 NOS2 TNF
39 11.83 IFNG IL4 IL6
40 11.81 IFNG IL10 IL1B IL6 TNF
41
Show member pathways
11.79 IFNG IL4 TNF
42 11.78 CP NOS2 TF VEGFA
43 11.78 IFNG IL10 IL1B IL6 NOS2 TNF
44 11.77 IL1B IL4 IL6 TNF
45 11.74 IL10 IL4 IL6 NOS2 TNF
46
Show member pathways
11.68 CP NOS2 SOD1
47 11.64 IFNG IL6 NOS2
48 11.64 IL1B IL6 TNF
49 11.62 IFNG IL1B NOS2 TNF
50 11.61 IL6 NOS2 VEGFA

GO Terms for Eales Disease

Cellular components related to Eales Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.73 CP IFNG IL10 IL1B IL4 IL6
2 extracellular space GO:0005615 9.4 CP IFNG IL10 IL1B IL4 IL6
3 secretory granule GO:0030141 9.33 IL1B SOD1 VEGFA

Biological processes related to Eales Disease according to GeneCards Suite gene sharing:

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.95 IFNG IL1B IL6 TNF VEGFA
2 immune response GO:0006955 9.88 IFNG IL10 IL1B IL4 IL6 TNF
3 platelet degranulation GO:0002576 9.87 SOD1 TF VEGFA
4 activation of MAPK activity GO:0000187 9.87 IL1B SOD1 TNF
5 response to organic substance GO:0010033 9.85 IL10 SOD1 TNF
6 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.85 IL6 TNF VEGFA
7 positive regulation of protein phosphorylation GO:0001934 9.84 IFNG IL1B TNF VEGFA
8 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.83 IFNG IL6 VEGFA
9 response to glucocorticoid GO:0051384 9.81 IL10 IL6 TNF
10 cellular iron ion homeostasis GO:0006879 9.81 CP SOD1 TF
11 positive regulation of T cell proliferation GO:0042102 9.8 IL1B IL4 IL6
12 cellular response to lipopolysaccharide GO:0071222 9.8 IL10 IL6 NOS2 TNF
13 humoral immune response GO:0006959 9.79 IFNG IL6 TNF
14 interleukin-12-mediated signaling pathway GO:0035722 9.78 IFNG IL10 SOD1
15 positive regulation of interleukin-6 production GO:0032755 9.77 IL1B IL6 TNF
16 negative regulation of gene expression GO:0010629 9.77 IFNG NOS2 SERPINF1 TNF VEGFA
17 positive regulation of DNA binding transcription factor activity GO:0051091 9.76 IL10 IL1B IL6 TNF
18 positive regulation of nitric oxide biosynthetic process GO:0045429 9.73 IFNG IL1B TNF
19 negative regulation of lipid catabolic process GO:0050995 9.69 IL1B TNF
20 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.69 IL1B VEGFA
21 negative regulation of growth of symbiont in host GO:0044130 9.68 IL10 TNF
22 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.68 IL1B TNF
23 negative regulation of lipid storage GO:0010888 9.67 IL6 TNF
24 positive regulation of chemokine biosynthetic process GO:0045080 9.66 IL1B TNF
25 endothelial cell apoptotic process GO:0072577 9.66 IL10 TNF
26 regulation of establishment of endothelial barrier GO:1903140 9.65 IL1B TNF
27 positive regulation of MHC class II biosynthetic process GO:0045348 9.64 IL10 IL4
28 negative regulation of cytokine secretion involved in immune response GO:0002740 9.62 IL10 TNF
29 type 2 immune response GO:0042092 9.62 IL10 IL4
30 positive regulation of protein complex assembly GO:0031334 9.61 IFNG TNF VEGFA
31 positive regulation of fever generation GO:0031622 9.6 IL1B TNF
32 sequestering of triglyceride GO:0030730 9.58 IL1B TNF
33 positive regulation of killing of cells of other organism GO:0051712 9.58 IFNG NOS2
34 regulation of isotype switching GO:0045191 9.57 IL10 IL4
35 regulation of insulin secretion GO:0050796 9.56 IFNG IL1B NOS2 TNF
36 receptor biosynthetic process GO:0032800 9.52 IL10 TNF
37 response to carbon monoxide GO:0034465 9.51 IL10 SOD1
38 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.5 IFNG IL1B TNF
39 regulation of receptor activity GO:0010469 9.5 IFNG IL10 IL1B IL4 IL6 TNF
40 positive regulation of vitamin D biosynthetic process GO:0060557 9.48 IFNG TNF
41 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.33 IL10 IL1B TNF
42 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 8.8 IFNG IL1B TNF
43 positive regulation of transcription by RNA polymerase II GO:0045944 10.15 IL10 IL1B IL4 IL6 TNF VEGFA
44 positive regulation of transcription, DNA-templated GO:0045893 10.07 IL10 IL1B IL4 IL6 TNF
45 negative regulation of apoptotic process GO:0043066 10.05 IL10 IL4 IL6 SOD1 VEGFA

Molecular functions related to Eales Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.26 IL10 IL4 IL6 VEGFA
2 cytokine activity GO:0005125 9.17 IFNG IL10 IL1B IL4 IL6 TNF

Sources for Eales Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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