MCID: CHL122
MIFTS: 52

Cholesteatoma of Middle Ear

Categories: Ear diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Cholesteatoma of Middle Ear

MalaCards integrated aliases for Cholesteatoma of Middle Ear:

Name: Cholesteatoma of Middle Ear 11 14 16 31 33
Cholesteatoma 11 19 53 5 43 14 16 71 75
Epidermosis of Middle Ear 11 33
Middle Ear Cholesteatoma 11 71
Epidermosis of Ear 11 33
Cholesteatoma of Middle Ear and/or Mastoid 11
Cholesteatoma of Middle Ear and Mastoid 11
Secondary Acquired Cholesteatoma 19
Cholesteatoma of the Middle Ear 11
Primary Acquired Cholesteatoma 19
Cholesterolosis of Middle Ear 33
Cholesterosis of Middle Ear 33
Cholesteatoma, Middle Ear 43
Congenital Cholesteatoma 19
Cholesteatoma Middle Ear 53
Epidermoid Cholesteatoma 33
Cholesterosis of Ear 33
Middle Ear Granuloma 33
Cholesteatoma Nos 33

Classifications:



External Ids:

Disease Ontology 11 DOID:10964 DOID:869
NCIt 49 C2944 C3654
ICD10 31 H71
ICD11 33 2134365487
UMLS 71 C0008373 C0008374 C0155490

Summaries for Cholesteatoma of Middle Ear

GARD: 19 Cholesteatoma is an abnormal growth of skin in the middle ear behind the eardrum. It can be congenital (present from birth), but it more commonly occurs as a complication of chronic ear infections. Individuals with this condition usually experience a painless discharge from the ear. Hearing loss, dizziness, and facial muscle paralysis are rare but can result from continued Cholesteatoma growth.

MalaCards based summary: Cholesteatoma of Middle Ear, also known as cholesteatoma, is related to leukoplakia and keratosis, and has symptoms including earache An important gene associated with Cholesteatoma of Middle Ear is F13B (Coagulation Factor XIII B Chain), and among its related pathways/superpathways are Nervous system development and Signaling by Receptor Tyrosine Kinases. The drugs Bupivacaine and Clonidine have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related phenotype is integument.

Disease Ontology: 11 A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.

Wikipedia: 75 Cholesteatoma is a destructive and expanding growth consisting of keratinizing squamous epithelium in... more...

Related Diseases for Cholesteatoma of Middle Ear

Diseases related to Cholesteatoma of Middle Ear via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 391)
# Related Disease Score Top Affiliating Genes
1 leukoplakia 30.6 KRT13 FLG DEFB4A
2 keratosis 30.6 MMP9 KRT16 KRT14 KRT10 IVL FLG
3 bone inflammation disease 30.5 TNFSF11 MMP9 MIR21 IL1A
4 squamous cell carcinoma 30.0 TGFA MMP9 KRT14 KRT13 IVL EGF
5 papilloma 30.0 TGFA KRT14 KRT13 KRT10 IVL FLG
6 skin squamous cell carcinoma 29.9 MIR21 KRT14 KRT10 IVL
7 periodontitis 29.9 TNFSF11 MMP9 MIR21 IL1A DEFB4A
8 ichthyosis 29.9 KRT16 KRT10 IVL FLG
9 bronchial disease 29.9 MMP9 MIR21 FLG
10 osteoporosis 29.8 TNFSF11 MMP9 MIR21 IL1A FGF2 EGF
11 head and neck cancer 29.8 MMP9 MIRLET7A1 MIR21 EGF
12 dermatitis, atopic 29.8 MIR21 IVL IL1A FLG DEFB4A
13 basal cell carcinoma 29.7 MMP9 KRT16 KRT14 KRT10 IVL
14 epidermolytic hyperkeratosis 29.7 KRT16 KRT14 KRT10 IVL FLG
15 autosomal recessive congenital ichthyosis 29.6 KRT16 KRT14 KRT10 IVL FLG DEFB4A
16 kidney disease 29.5 TNFSF11 S100A8 MIR21 FGF7 FGF2 EGF
17 skin disease 28.9 TGFA S100A8 MMP9 MIRLET7A1 MIR21 KRT16
18 cholesteatoma of external ear 11.5
19 maxillary sinus cholesteatoma 11.4
20 cholesteatoma of attic 11.1
21 otitis media 11.0
22 cholesteatoma, congenital 11.0
23 purulent labyrinthitis 11.0
24 focal labyrinthitis 11.0
25 external auditory canal aplasia/hypoplasia 10.9
26 semicircular canal dehiscence syndrome 10.9
27 otorrhea 10.8
28 bell's palsy 10.8
29 facial paralysis 10.7
30 suppurative otitis media 10.7
31 perilymphatic fistula 10.7
32 glanders 10.7
33 chronic purulent otitis media 10.7
34 sensorineural hearing loss 10.6
35 epidermoid cysts 10.5
36 mastoiditis 10.5
37 middle ear disease 10.4
38 meningitis 10.4
39 cartilage disease 10.4
40 cicatricial lagophthalmos 10.3 IVL FLG
41 periapical periodontitis 10.3 TNFSF11 MMP9 IL1A
42 otosclerosis 10.3
43 labyrinthitis 10.3
44 root resorption 10.3 TNFSF11 MMP9 IL1A
45 eccrine papillary adenoma 10.3 KRT14 KRT10
46 nodular hidradenoma 10.3 KRT14 KRT10
47 bowen's disease 10.3 KRT16 KRT10 IVL
48 eczema herpeticum 10.3 IVL FLG DEFB4A
49 lacrimal apparatus disease 10.3 MMP9 IL1A EGF
50 seborrheic dermatitis 10.3 IL1A FLG DEFB4A

Comorbidity relations with Cholesteatoma of Middle Ear via Phenotypic Disease Network (PDN):


Otitis Media

Graphical network of the top 20 diseases related to Cholesteatoma of Middle Ear:



Diseases related to Cholesteatoma of Middle Ear

Symptoms & Phenotypes for Cholesteatoma of Middle Ear

UMLS symptoms related to Cholesteatoma of Middle Ear:


earache

MGI Mouse Phenotypes related to Cholesteatoma of Middle Ear:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.28 EGF FGF7 IL1A KRT10 KRT14 KRT16

Drugs & Therapeutics for Cholesteatoma of Middle Ear

Drugs for Cholesteatoma of Middle Ear (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 2 2180-92-9, 38396-39-3 2474
2
Clonidine Approved Phase 2 4205-91-8, 4205-90-7 2803 20179
3 Anesthetics Phase 2
4 Neurotransmitter Agents Phase 2
5 Adrenergic alpha-Agonists Phase 2
6 Adrenergic Agonists Phase 2
7 Adrenergic Agents Phase 2
8 Antihypertensive Agents Phase 2
9 Anesthetics, Local Phase 2
10 Analgesics Phase 2
11 Sympatholytics Phase 2
12
Lidocaine Approved, Vet_approved 137-58-6 3676

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Great Auricular Nerve Block for Children Undergoing Tympanomastoid Surgery: Does the Addition of Clonidine Increase the Duration of Postoperative Analgesia? Completed NCT01638052 Phase 2 0.25% Bupivacaine + Clonidine
2 Evaluation of the Level of Middle Cranial Fossa Dura in Patients With Cholesteatoma Unknown status NCT04551612
3 Diffusion Weighted MRI Accuracy in Cholesteatoma Localization Unknown status NCT03915392
4 Detection of Cholesteatoma Using Diffusion Magnetic Resonance Imaging Unknown status NCT03305796
5 The Serum Sclerostin Levels in Cholesteatoma Patients Unknown status NCT03954288
6 Combined Access Closed Tympanomastoidectomy: Microsurgery Allied to Endoscopy Unknown status NCT03294421
7 A Cross Sectional Study of Clinicopathologic Behaviour of Primary, Secondary and Mixed Types of Atticoantral Chronic Otitis Media Unknown status NCT00270660
8 Usefulness of Non EPI-DWI-MRI / CT 3D Static Co-registration Prior to Surgery of Cholesteatomas Unknown status NCT02903550
9 Middle Ear Status in Cholesteatoma: the Associations of Preoperative Computed Tomography Scans, Audiologic Assessment, and Intraoperative Endoscopic Findings Completed NCT04672187
10 Optimal Duration of Magnetic Resonance Imaging (MRI) Follow-up to Safely Identify Middle Ear Residual Cholesteatoma Completed NCT04489550
11 Messung Der Beweglichkeit Der Gehörknöchelchenkette während Einer Ohroperation. ("Objective Measurements of Ossicular Chain Mobility Using a Palpating Instrument Intraoperatively") Completed NCT02554422
12 Magnetic Resonance (MR) Imaging in the Post Operative Follow-up of Cholesteatoma in Children Completed NCT00682409
13 Comparison of Clinical Effect Between Endoscopic and Microscopic Ear Surgery of Cholesteatoma: A Multicenter Retrospective Observational Study Completed NCT05182268
14 Endoscopic Transcanal Tympanoplasty With Attico-antrostomy Versus Endoscopic-assisted Canal Wall up Mastoidectomy in Management of Localized Cholesteatoma: A Randomized Clinical Trial Completed NCT04959539
15 Comprehensive Wide Bandwidth Test Battery of Auditory Function in Veterans Completed NCT02019888
16 Cone Beam CT (CS 9300) for Diagnosis of Select Otorhinolaryngology (ENT) Indications at Lower Dose Completed NCT01855425
17 A Retrospective Mapping of Health Care Utilisation and Current Quality of Life Status in Adult Subjects With a History of Chronic Otitis Media With or Without Cholesteatoma Who Have Undergone a Primary Tympanoplasty Recruiting NCT04864912
18 Comparative Study Between Radical Mastoidectomy With and Without Mastoid Obliteration Operations in Pediatric Population Not yet recruiting NCT05584891

Search NIH Clinical Center for Cholesteatoma of Middle Ear

Cochrane evidence based reviews: cholesteatoma

Genetic Tests for Cholesteatoma of Middle Ear

Anatomical Context for Cholesteatoma of Middle Ear

Organs/tissues related to Cholesteatoma of Middle Ear:

MalaCards : Skin, Brain, Bone, Temporal Lobe, Spinal Cord, Kidney, Salivary Gland

Publications for Cholesteatoma of Middle Ear

Articles related to Cholesteatoma of Middle Ear:

(show top 50) (show all 6196)
# Title Authors PMID Year
1
Cholesteatoma growth and proliferation: posttranscriptional regulation by microRNA-21. 62 46
19672202 2009
2
Comparison of acquired cholesteatoma between pediatric and adult patients. 53 62
19322578 2009
3
Elevated level of tenascin and matrix metalloproteinase 9 correlates with the bone destruction capacity of cholesteatomas. 53 62
19395987 2009
4
[Expression of matrix metalloproteinase-2,9 in cholesteatoma from different positions]. 53 62
19484988 2009
5
Laser-assisted cholesteatoma surgery: technical aspects, in vitro implementation and challenge of selective cell destruction. 53 62
18253741 2008
6
Topical application of 5-fluorouracil on attic cholesteatoma results in downregulation of keratinocyte growth factor and reduction of proliferative activity. 53 62
18246360 2008
7
Gelatinolytic activity of matrix metalloproteinases 2 and 9 in middle ear cholesteatoma. 53 62
19128667 2008
8
Establishment and characterization of an in vitro model for cholesteatoma. 53 62
19434278 2008
9
[The expression of receptor activator nuclear factor-kappaB ligand and osteoprotegerin in cholesteatoma]. 53 62
18589796 2008
10
[Expression and significance of HIF-1alpha and iNOS in human middle ear cholesteatoma epithelium]. 53 62
17650819 2007
11
Survival signaling and terminal differentiation in cholesteatoma epithelium. 53 62
17453465 2007
12
[Expression and significance of nuclear factor-kappa B ligand and correlation factor in the tissue of otitis media with cholesteatoma]. 53 62
17580719 2007
13
Differential expression of human beta defensin 2 and human beta defensin 3 in human middle ear cholesteatoma. 53 62
17419529 2007
14
The localization of matrix metalloproteinases-8 and -13 in cholesteatoma, deep-meatal and post-auricular skin: a comparative analysis. 53 62
17364344 2007
15
Comparative cytokeratin distribution patterns in cholesteatoma epithelium. 53 62
17128409 2007
16
The role of tumor necrosis factor-alpha (TNF-alpha) in bone resorption present in middle ear cholesteatoma. 53 62
17505610 2007
17
The role of S100A1 in external auditory canal cholesteatoma. 53 62
16969478 2006
18
Expression of RANKL and OPG in middle ear cholesteatoma tissue. 53 62
16826057 2006
19
Association between human beta defensin expression and cholesteatoma formation. 53 62
16431059 2006
20
Terminal differentiation and mitogen-activated protein kinase signaling in human cholesteatoma epithelium. 53 62
16639284 2006
21
Characterization of patterns of expression of protein kinase C-alpha, -delta, -eta, -gamma and -zeta and their correlations to p53, galectin-3, the retinoic acid receptor-beta and the macrophage migration inhibitory factor (MIF) in human cholesteatomas. 53 62
16513304 2006
22
[Express of transforming growth factor alpha and beta1 in cholesteatoma tissue]. 53 62
16874966 2005
23
Cytokeratin expression pattern in congenital and acquired pediatric cholesteatoma. 53 62
15754169 2005
24
[The expression and significance of human beta-defensin 2 in middle ear cholesteatoma epithelium]. 53 62
16001900 2005
25
[Expression of hypoxia-inducible factor-1alpha in middle ear cholesteatoma]. 53 62
15830692 2005
26
[Detection of the activity of MMP2 and MMP9 in middle ear cholesteatoma]. 53 62
15620146 2004
27
[The expressions and correlations of RAR-beta receptors and galectin-8 in human middle ear cholesteatoma]. 53 62
15499989 2004
28
[The expression of matrix metalloproteinase-9 and tumor necrosis factor-alpha in cholesteatoma]. 53 62
15499988 2004
29
Epidermal growth factor expression in middle ear cholesteatoma. 53 62
15481560 2004
30
Immunohistochemical investigations on external auditory canal cholesteatomas. 53 62
14501442 2003
31
Expression of hypoxia inducible factor 1 alpha and Von Hippel Lindau protein in human middle ear cholesteatoma. 53 62
12838021 2003
32
Gene expression analysis of human middle ear cholesteatoma using complementary DNA arrays. 53 62
12792315 2003
33
Osteoclast stimulating and differentiating factors in human cholesteatoma. 53 62
12616193 2003
34
Possible involvement of keratinocyte growth factor and its receptor in enhanced epithelial-cell proliferation and acquired recurrence of middle-ear cholesteatoma. 53 62
12533693 2003
35
[Possible role of transforming growth factor alpha on the cholesteatoma growth regulation]. 53 62
12725186 2003
36
Expression of beta-defensins in human middle ear cholesteatoma. 53 62
12701748 2003
37
[Expression of transforming growth factor-beta 1 matrix metalloproteinase-1 and its inhibitor in human middle ear cholesteatoma]. 53 62
12768723 2002
38
[The expression of matrix metalloproteinase-1 and interleukin-1-alpha messenger ribonucleic acid in human middle ear cholesteatoma]. 53 62
12768791 2002
39
Up-regulation of matrix metalloprotease-9 in middle ear cholesteatoma--correlations with growth factor expression in vivo? 53 62
11769995 2001
40
The levels of retinoid RARbeta receptors correlate with galectin-1, -3 and -8 expression in human cholesteatomas. 53 62
11377877 2001
41
The levels of expression of galectin-3, but not of galectin-1 and galectin-8, correlate with apoptosis in human cholesteatomas. 53 62
11404618 2001
42
[Expression of matrix metalloproteinasa-2,9 in cholesteatoma and middle ear cancer]. 53 62
12761978 2001
43
Angiogenesis and angiogenic growth factors in middle ear cholesteatoma. 53 62
11078065 2000
44
Acquired and congenital cholesteatoma: determination of tumor necrosis factor-alpha, intercellular adhesion molecule-1, interleukin-1-alpha and lymphocyte functional antigen-1 in the inflammatory process. 53 62
10965261 2000
45
Stromal expression of matrix metalloprotease-9 in middle ear cholesteatomas. 53 62
10993447 2000
46
Induction of matrix metalloproteinases in keratinocytes by cholesteatoma debris and granulation tissue extracts. 53 62
11073191 2000
47
Evaluation of proliferative activity in middle ear cholesteatoma using proliferating cell nuclear antigen. 53 62
10518363 1999
48
Role of Bcl-xL protein in differentiation and apoptosis of human middle ear cholesteatoma epithelium. 53 62
10406309 1999
49
Roles of cytokines and cell cycle regulating substances in proliferation of cholesteatoma epithelium. 53 62
10401849 1999
50
Transforming growth factor-alpha and rhinitis. 53 62
10401853 1999

Variations for Cholesteatoma of Middle Ear

ClinVar genetic disease variations for Cholesteatoma of Middle Ear:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F13B NM_001994.3(F13B):c.1505C>G (p.Ser502Cys) SNV Pathogenic
1322006 GRCh37: 1:197021814-197021814
GRCh38: 1:197052684-197052684
2 RABGAP1L NM_001366446.1(RABGAP1L):c.-34+24490G>A SNV Likely Pathogenic
1322005 GRCh37: 1:174153285-174153285
GRCh38: 1:174184147-174184147
3 F5 NM_000130.5(F5):c.5599+261A>G SNV Uncertain Significance
1322001 GRCh37: 1:169496892-169496892
GRCh38: 1:169527654-169527654
4 F5 NM_000130.5(F5):c.5509C>A (p.Gln1837Lys) SNV Uncertain Significance
1322002 GRCh37: 1:169497243-169497243
GRCh38: 1:169528005-169528005
5 ZBTB37 NM_001122770.3(ZBTB37):c.*17408A>C SNV Uncertain Significance
1322003 GRCh37: 1:173872670-173872670
GRCh38: 1:173903532-173903532
6 ZBTB37 NM_001122770.3(ZBTB37):c.*17411G>A SNV Likely Benign
1322004 GRCh37: 1:173872673-173872673
GRCh38: 1:173903535-173903535

Expression for Cholesteatoma of Middle Ear

Search GEO for disease gene expression data for Cholesteatoma of Middle Ear.

Pathways for Cholesteatoma of Middle Ear

Pathways related to Cholesteatoma of Middle Ear according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 MMP9 KRT16 KRT14 KRT13 KRT10 IVL
2 12.61 TGFA MMP9 FGF7 FGF2 EGF
3
Show member pathways
12.45 TGFA IL1A FGF7 FGF2 EGF
4
Show member pathways
12.44 EGF FGF2 FGF7 IL1A TGFA
5 12.41 TGFA MMP9 FGF7 FGF2 EGF
6
Show member pathways
12.26 TNFSF11 FGF7 FGF2 EGF
7 12.17 IL1A FGF7 FGF2 EGF
8
Show member pathways
11.97 KRT16 KRT14 KRT13 KRT10 IVL FLG
9 11.82 TNFSF11 S100A8 KRT16 KRT13 DEFB4A
10 11.76 MMP9 IL1A FGF2
11 11.64 TGFA MMP9 FGF2
12 11.55 TGFA FGF7 FGF2 EGF
13 11.51 EGF FLG MMP9
14
Show member pathways
11.43 TGFA MMP9 EGF
15 11.23 TNFSF11 FGF2 EGF
16 11.13 FGF7 FGF2 EGF
17 10.86 MMP9 FGF2
18 10.82 TGFA MMP9 FGF7 FGF2 EGF
19 10.64 TNFSF11 TGFA IL1A FGF7 FGF2 EGF

GO Terms for Cholesteatoma of Middle Ear

Cellular components related to Cholesteatoma of Middle Ear according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.18 TNFSF11 TGFA S100A8 MMP9 KRT10 IL1A
2 intermediate filament GO:0005882 9.8 KRT16 KRT14 KRT13 KRT10
3 extracellular space GO:0005615 9.74 TNFSF11 TGFA S100A8 MMP9 MIRLET7A1 MIR21
4 cornified envelope GO:0001533 9.65 FLG IVL KRT10 KRT14 KRT16

Biological processes related to Cholesteatoma of Middle Ear according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.3 TNFSF11 MIR21 IL1A FGF7 FGF2 EGF
2 ERK1 and ERK2 cascade GO:0070371 10.06 TNFSF11 FGF2 EGF
3 positive regulation of protein kinase B signaling GO:0051897 10.05 TNFSF11 MIR21 FGF2 EGF
4 positive chemotaxis GO:0050918 10.02 DEFB4A FGF2 FGF7
5 epithelial cell differentiation GO:0030855 10.01 KRT16 KRT14 KRT13 KRT10
6 wound healing GO:0042060 9.98 TGFA S100A8 IL1A FGF2
7 positive regulation of MAP kinase activity GO:0043406 9.97 TNFSF11 TGFA FGF2 EGF
8 positive regulation of vascular associated smooth muscle cell proliferation GO:1904707 9.93 FGF2 MIR21 MMP9
9 positive regulation of mitotic nuclear division GO:0045840 9.93 EGF IL1A TGFA
10 epithelial cell proliferation GO:0050673 9.9 FGF7 FGF2 EGF
11 cerebellar granule cell precursor proliferation GO:0021930 9.89 FGF2 EGF
12 ERBB2-EGFR signaling pathway GO:0038134 9.88 TGFA EGF
13 paracrine signaling GO:0038001 9.87 TNFSF11 FGF2
14 positive regulation of epithelial cell proliferation GO:0050679 9.87 EGF FGF2 FGF7 TGFA
15 positive regulation of epithelial tube formation GO:1905278 9.83 FGF2 EGF
16 lymphatic endothelial cell migration GO:1904977 9.8 LGALS8 FGF2
17 positive regulation of cerebellar granule cell precursor proliferation GO:0021940 9.78 FGF2 EGF
18 positive regulation of cell division GO:0051781 9.76 TGFA IL1A FGF7 FGF2
19 mammary gland alveolus development GO:0060749 9.73 TNFSF11 TGFA EGF
20 peptide cross-linking GO:0018149 9.56 KRT10 IVL FLG F13B
21 keratinocyte differentiation GO:0030216 9.32 KRT16 KRT14 KRT10 IVL FLG

Molecular functions related to Cholesteatoma of Middle Ear according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.76 TGFA FGF7 FGF2 EGF
2 chemoattractant activity GO:0042056 9.43 FGF7 FGF2 DEFB4A
3 structural molecule activity GO:0005198 9.1 KRT16 KRT14 KRT13 KRT10 FLG

Sources for Cholesteatoma of Middle Ear

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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