MCID: KSH004
MIFTS: 43

Kashin-Beck Disease

Categories: Bone diseases

Aliases & Classifications for Kashin-Beck Disease

MalaCards integrated aliases for Kashin-Beck Disease:

Name: Kashin-Beck Disease 42 17 74

Classifications:



External Ids:

UMLS 74 C2745963

Summaries for Kashin-Beck Disease

MalaCards based summary : Kashin-Beck Disease is related to osteoarthritis and rheumatoid arthritis. An important gene associated with Kashin-Beck Disease is TNF (Tumor Necrosis Factor), and among its related pathways/superpathways are ERK Signaling and TGF-Beta Pathway. The drugs Selenic acid and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include bone, breast and endothelial, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Wikipedia : 77 Kashin–Beck disease (KBD) is a chronic, endemic type of osteochondropathy (disease of the bone) that is... more...

Related Diseases for Kashin-Beck Disease

Diseases related to Kashin-Beck Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 118)
# Related Disease Score Top Affiliating Genes
1 osteoarthritis 12.0
2 rheumatoid arthritis 10.5
3 cerebrotendinous xanthomatosis 10.5
4 arthritis 10.5
5 rickets 10.4
6 exudative glomerulonephritis 10.3 IL1B TNF
7 staphylococcal toxic shock syndrome 10.3 IL1B TNF
8 vulvar vestibulitis syndrome 10.3 IL1B TNF
9 burns 10.3 IL1B TNF
10 glossitis 10.3 IL1B TNF
11 laryngitis 10.3 IL1B TNF
12 haemophilus influenzae 10.3 IL1B TNF
13 cerebral artery occlusion 10.3 IL1B TNF
14 opisthorchiasis 10.3 IL1B TNF
15 osteoporosis 10.3
16 body mass index quantitative trait locus 1 10.3
17 intraocular pressure quantitative trait locus 10.3
18 keshan disease 10.3
19 dental fluorosis 10.3
20 hypoxia 10.3
21 atlantoaxial subluxation 10.3
22 retinitis pigmentosa 60 10.3 IL1B TNF
23 irritant dermatitis 10.3 IL1B TNF
24 acute vascular insufficiency of intestine 10.3 IL1B TNF
25 congenital cytomegalovirus 10.3 IL1B TNF
26 actinic prurigo 10.3 IL1B TNF
27 osteosclerotic myeloma 10.3 IL1B TNF
28 crohn's colitis 10.3 IL1B TNF
29 periapical periodontitis 10.3 IL1B TNF
30 autoimmune gastritis 10.3 IL1B TNF
31 central nervous system vasculitis 10.3 IL1B TNF
32 stachybotrys chartarum 10.3 IL1B TNF
33 jejunoileitis 10.3 IL1B TNF
34 endometrial disease 10.3 IL1B TNF
35 dental pulp disease 10.3 IL1B TNF
36 primary systemic mycosis 10.3 IL1B TNF
37 blau syndrome 10.3 IL1B TNF
38 endometritis 10.3 IL1B TNF
39 aseptic meningitis 10.3 IL1B TNF
40 scrub typhus 10.3 IL1B TNF
41 pulpitis 10.3 IL1B TNF
42 malignant teratoma 10.3 BAX BCL2
43 joint disorders 10.3 IL1B TNF
44 middle ear disease 10.3 IL1B TNF
45 lacrimal apparatus disease 10.3 IL1B TNF
46 adult-onset still's disease 10.2 IL1B TNF
47 suppressor of tumorigenicity 3 10.2 BAX BCL2
48 critical limb ischemia 10.2 TNF VEGFA
49 commensal bacterial infectious disease 10.2 IL1B TNF
50 alk-negative anaplastic large cell lymphoma 10.2 BAX BCL2

Graphical network of the top 20 diseases related to Kashin-Beck Disease:



Diseases related to Kashin-Beck Disease

Symptoms & Phenotypes for Kashin-Beck Disease

GenomeRNAi Phenotypes related to Kashin-Beck Disease according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.62 BAX BCL2 FAS IL1B TNF
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.62 BAX BCL2 FAS IL1B TNF

MGI Mouse Phenotypes related to Kashin-Beck Disease:

47 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.11 BAX BCL2 FAS IL1B SELENOP TNF
2 cellular MP:0005384 10.1 BAX BCL2 FAS SELENOP TNF TXNRD2
3 growth/size/body region MP:0005378 10.08 BAX BCL2 FAS IL1B SELENOP TNF
4 hematopoietic system MP:0005397 10.07 BAX BCL2 FAS IL1B TNF TXNRD2
5 cardiovascular system MP:0005385 10.04 BCL2 FAS IL1B TNF TXNRD2 VEGFA
6 immune system MP:0005387 10.04 BAX BCL2 FAS IL1B SELENOP TNF
7 mortality/aging MP:0010768 10.01 BAX BCL2 FAS IL1B SELENOP TNF
8 craniofacial MP:0005382 9.95 BCL2 FAS IL1B TNF VEGFA
9 integument MP:0010771 9.88 BCL2 FAS IL1B TNF VEGFA
10 limbs/digits/tail MP:0005371 9.85 BAX FAS SELENOP TNF VEGFA
11 liver/biliary system MP:0005370 9.83 FAS SELENOP TNF TXNRD2 VEGFA
12 neoplasm MP:0002006 9.8 BAX BCL2 FAS IL1B TNF VEGFA
13 nervous system MP:0003631 9.8 BAX BCL2 FAS IL1B TNF TXNRD2
14 muscle MP:0005369 9.77 BAX BCL2 TNF TXNRD2 VEGFA
15 renal/urinary system MP:0005367 9.55 BAX BCL2 FAS SELENOP VEGFA
16 reproductive system MP:0005389 9.43 BAX BCL2 FAS SELENOP TNF VEGFA
17 vision/eye MP:0005391 9.02 BAX BCL2 FAS TNF VEGFA

Drugs & Therapeutics for Kashin-Beck Disease

Drugs for Kashin-Beck Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Selenic acid Approved Phase 2 7783-08-6
2 Antioxidants Phase 2
3 Garcinia Phase 2
4 Protective Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Antioxidant Supplementation in Patients With Kashin-Beck Disease Unknown status NCT00376025 Phase 2

Search NIH Clinical Center for Kashin-Beck Disease

Genetic Tests for Kashin-Beck Disease

Anatomical Context for Kashin-Beck Disease

MalaCards organs/tissues related to Kashin-Beck Disease:

42
Bone, Breast, Endothelial, Monocytes, Liver, Lymph Node, Prostate

Publications for Kashin-Beck Disease

Articles related to Kashin-Beck Disease:

(show top 50) (show all 214)
# Title Authors Year
1
The Importance of Se-Related Genes in the Chondrocyte of Kashin-Beck Disease Revealed by Whole Genomic Microarray and Network Analysis. ( 29948913 )
2019
2
Outcomes of total knee arthroplasty in the adult Kashin-Beck disease with severe osteoarthritis. ( 29971707 )
2019
3
Long-term efficacy of repeated sodium hyaluronate injections in adult patients with Kashin-Beck disease of the knee. ( 30460780 )
2019
4
The levels of urine CTX-II, C2C, and PYD in children patients with Kashin-Beck disease in Qinghai Province of China. ( 30635000 )
2019
5
Decreased Expression of CHST-12, CHST-13, and UST in the Proximal Interphalangeal Joint Cartilage of School-Age Children with Kashin-Beck Disease: an Endemic Osteoarthritis in China Caused by Selenium Deficiency. ( 30661165 )
2019
6
Biological Analysis of Gene Expression and Clinical Variables Suggest FZD1 as a Novel Biomarker for Patients with Kashin-Beck Disease, an Endemic Osteoarthritis in China. ( 30719180 )
2019
7
The systematic review and meta-analysis of X-ray detective rate of Kashin-Beck disease from 1992 to 2016. ( 30764809 )
2019
8
Changes in the NF-κB signaling pathway in juvenile and adult patients with Kashin-Beck disease. ( 30951708 )
2019
9
Pathway-based network analyses and candidate genes associated with Kashin-Beck disease. ( 31045836 )
2019
10
A preliminary analysis of microRNA profiles in the subchondral bone between Kashin-Beck disease and primary knee osteoarthritis. ( 31062252 )
2019
11
Genetic variants in the ITPR2 gene are associated with Kashin-Beck Disease in Tibetan. ( 31066235 )
2019
12
Hair multi-bioelement profile of Kashin-Beck disease in the endemic regions of China. ( 31109624 )
2019
13
RNA-seq analysis reveals different gene ontologies and pathways in rheumatoid arthritis and Kashin-Beck disease. ( 30256536 )
2018
14
Comparative Analysis of Gene Expression Profiles of Human Dental Fluorosis and Kashin-Beck Disease. ( 29317700 )
2018
15
Nutrients Other than Selenium Are Important for Promoting Children's Health in Kashin-Beck Disease Areas. ( 28921450 )
2018
16
Associations Between Selenium Content in Hair and Kashin-Beck Disease/Keshan Disease in Children in Northwestern China: a Prospective Cohort Study. ( 28983831 )
2018
17
Selenium status of children in Kashin-Beck disease endemic areas in Shaanxi, China: assessment with mercury. ( 29018984 )
2018
18
Prevalence of hand osteoarthritis and knee osteoarthritis in Kashin-Beck disease endemic areas and non Kashin-Beck disease endemic areas: A status survey. ( 29320581 )
2018
19
Imbalance of dietary nutrients and the associated differentially expressed genes and pathways may play important roles in juvenile Kashin-Beck disease. ( 29426639 )
2018
20
The characteristics of positive and confusing hand X-ray signs in diagnosing Kashin-Beck Disease in children in China. ( 29459762 )
2018
21
Effects of five types of selenium supplementation for treatment of Kashin-Beck disease in children: a systematic review and network meta-analysis. ( 29511006 )
2018
22
Integrating genome-wide DNA methylation and mRNA expression profiles identified different molecular features between Kashin-Beck disease and primary osteoarthritis. ( 29514696 )
2018
23
Dietary exosome-miR-23b may be a novel therapeutic measure for preventing Kashin-Beck disease. ( 29556257 )
2018
24
FGF8 and FGFR3 are up-regulated in hypertrophic chondrocytes: Association with chondrocyte death in deep zone of Kashin-Beck disease. ( 29626475 )
2018
25
The study on polymorphisms of Sep15 and TrxR2 and the expression of AP-1 signaling pathway in Kashin-Beck disease. ( 29653292 )
2018
26
Polymorphism in rs2229783 of the Alpha 1(XI) Collagen Gene Is Associated with Susceptibility to but not Severity of Kashin-Beck Disease in a Northwest Chinese Han Population. ( 29773097 )
2018
27
Serum levels of PIICP, PIIANP, and PIIBNP are decreased in patients with an endemic osteochondropathy, Kashin-Beck disease. ( 29843748 )
2018
28
The study of GPX3 methylation in patients with Kashin-Beck Disease and its mechanism in chondrocyte apoptosis. ( 30153510 )
2018
29
Comparison of bone texture between normal individuals and patients with Kashin-Beck disease from plain radiographs in knee. ( 30504816 )
2018
30
Death of chondrocytes in Kashin-Beck disease: Apoptosis, necrosis or necroptosis? ( 30680829 )
2018
31
Accidental or linked: separated odontoid process fused to the enlarged anterior arch of the atlas associated with atlantoaxial subluxation in a Kashin-Beck disease patient. ( 27652680 )
2017
32
Distribution and translocation of selenium from soil to highland barley in the Tibetan Plateau Kashin-Beck disease area. ( 27071616 )
2017
33
Genetic association, mRNA and protein expression analysis identify ATG4C as a susceptibility gene for Kashin-Beck disease. ( 27742532 )
2017
34
Staged total knee arthroplasty for bilateral complex knee deformities from Kashin-Beck disease and skeletal dysplasia. ( 27923623 )
2017
35
Genome-wide association study identifies COL2A1 locus involved in the hand development failure of Kashin-Beck disease. ( 28059113 )
2017
36
Zinc: the Other Suspected Environmental Factor in Kashin-Beck Disease in Addition to Selenium. ( 28224461 )
2017
37
Altered expression of chondroitin sulfate structure modifying sulfotransferases in the articular cartilage from adult osteoarthritis and Kashin-Beck disease. ( 28274888 )
2017
38
Evaluation of the Sensitivity and Specificity of the New Clinical Diagnostic and Classification Criteria for Kashin-Beck Disease, an Endemic Osteoarthritis, in China. ( 28292355 )
2017
39
Comparison of microRNA expression profiles of Kashin-Beck disease, osteoarthritis and rheumatoid arthritis. ( 28373711 )
2017
40
Reliability and validity of the 12-item WHODAS 2.0 in patients with Kashin-Beck disease. ( 28439626 )
2017
41
Increased Chondrocyte Apoptosis in Kashin-Beck Disease and Rats Induced by T-2 Toxin and Selenium Deficiency. ( 28549491 )
2017
42
Detection of the Urinary Biomarkers PYD, CTX-II, and DPD in Patients with Kashin-Beck Disease in the Qinghai Province of China. ( 28549495 )
2017
43
Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population. ( 28651521 )
2017
44
The expression of ERK and JNK in patients with an endemic osteochondropathy, Kashin-Beck disease. ( 28807789 )
2017
45
Genome-wide DNA methylation profiling of articular cartilage reveals significant epigenetic alterations in Kashin-Beck disease and osteoarthritis. ( 28818737 )
2017
46
Chondrocytes damage induced by T-2 toxin via Wnt/β-catenin signaling pathway is involved in the pathogenesis of an endemic osteochondropathy, Kashin-Beck disease. ( 29042209 )
2017
47
Long noncoding RNA expression profile reveals lncRNAs signature associated with extracellular matrix degradation in kashin-beck disease. ( 29242531 )
2017
48
T-2 Toxin Alters the Levels of Collagen II and Its Regulatory Enzymes MMPs/TIMP-1 in a Low-Selenium Rat Model of Kashin-Beck Disease. ( 26123163 )
2016
49
The Roles of the Interaction of BCL2-Antagonist/Killer 1, Apoptotic Peptidase Activating Factor 1 and Selenium in the Pathogenesis of Kashin-Beck Disease. ( 26179084 )
2016
50
Salt-Rich Selenium for Prevention and Control Children with Kashin-Beck Disease: a Meta-analysis of Community-Based Trial. ( 26198135 )
2016

Variations for Kashin-Beck Disease

Expression for Kashin-Beck Disease

Search GEO for disease gene expression data for Kashin-Beck Disease.

Pathways for Kashin-Beck Disease

Pathways related to Kashin-Beck Disease according to GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 BAX BCL2 FAS IL1B TNF VEGFA
2
Show member pathways
13.37 BAX BCL2 IL1B TNF VEGFA
3
Show member pathways
13.26 BAX BCL2 FAS IL1B TNF
4
Show member pathways
13.1 BAX BCL2 FAS IL1B TNF TXNRD2
5
Show member pathways
12.96 BCL2 FAS IL1B TNF
6
Show member pathways
12.83 BAX BCL2 FAS TNF VEGFA
7
Show member pathways
12.8 BAX BCL2 FAS TNF VEGFA
8
Show member pathways
12.75 FAS IL1B TNF VEGFA
9
Show member pathways
12.68 BAX BCL2 FAS TNF
10 12.67 BAX BCL2 FAS TXNRD2 VEGFA
11 12.63 FAS IL1B TNF VEGFA
12
Show member pathways
12.53 BAX BCL2 FAS IL1B TNF VEGFA
13
Show member pathways
12.47 BAX BCL2 IL1B TNF
14
Show member pathways
12.45 FAS IL1B TNF
15
Show member pathways
12.43 BAX BCL2 FAS IL1B TNF
16
Show member pathways
12.39 BCL2 FAS IL1B TNF VEGFA
17
Show member pathways
12.36 BAX BCL2 IL1B
18
Show member pathways
12.33 BAX BCL2 IL1B
19
Show member pathways
12.27 BAX BCL2 FAS
20
Show member pathways
12.21 IL1B SELENOP TNF TXNRD2
21 12.19 FAS TNF VEGFA
22
Show member pathways
12.15 BCL2 IL1B TNF
23
Show member pathways
12.15 BAX BCL2 FAS
24
Show member pathways
12.15 BAX BCL2 FAS TNF
25
Show member pathways
12.09 FAS IL1B TNF
26 12.09 BAX BCL2 FAS TNF
27 12.08 BAX TNF VEGFA
28 12.08 IL1B TNF VEGFA
29 12.06 BAX BCL2 IL1B TNF
30 12.05 BAX BCL2 VEGFA
31 11.97 BAX BCL2 FAS
32
Show member pathways
11.93 BAX BCL2 TNF
33 11.91 BAX BCL2 TNF
34
Show member pathways
11.89 BAX BCL2 TNF
35 11.87 FAS IL1B TNF
36 11.85 BCL2 IL1B TNF VEGFA
37 11.82 BCL2 IL1B TNF
38 11.77 IL1B TNF VEGFA
39
Show member pathways
11.73 BAX BCL2 FAS
40 11.73 BCL2 IL1B TNF VEGFA
41 11.66 BAX BCL2 FAS
42
Show member pathways
11.59 BAX BCL2 FAS IL1B TNF
43
Show member pathways
11.58 IL1B TNF VEGFA
44 11.44 BAX IL1B TNF
45 11.41 BAX BCL2
46 11.41 SELENOP TXNRD2
47 11.4 IL1B TNF
48 11.39 FAS TNF
49 11.39 BAX BCL2 TNF
50
Show member pathways
11.37 IL1B TNF

GO Terms for Kashin-Beck Disease

Cellular components related to Kashin-Beck Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pore complex GO:0046930 8.62 BAX BCL2

Biological processes related to Kashin-Beck Disease according to GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.89 BAX BCL2 FAS
2 cytokine-mediated signaling pathway GO:0019221 9.88 BCL2 IL1B TNF VEGFA
3 kidney development GO:0001822 9.83 BAX BCL2 VEGFA
4 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.81 BAX FAS TNF
5 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.79 BCL2 TNF VEGFA
6 post-embryonic development GO:0009791 9.78 BAX BCL2 SELENOP
7 positive regulation of interferon-gamma production GO:0032729 9.73 IL1B TNF
8 positive regulation of nitric oxide biosynthetic process GO:0045429 9.73 IL1B TNF
9 positive regulation of phagocytosis GO:0050766 9.72 IL1B TNF
10 protein kinase B signaling GO:0043491 9.72 IL1B TNF
11 neuron apoptotic process GO:0051402 9.72 BAX BCL2
12 apoptotic signaling pathway GO:0097190 9.72 BAX FAS TNF
13 lipopolysaccharide-mediated signaling pathway GO:0031663 9.71 IL1B TNF
14 negative regulation of mitotic cell cycle GO:0045930 9.71 BCL2 TNF
15 positive regulation of intrinsic apoptotic signaling pathway GO:2001244 9.71 BAX BCL2
16 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress GO:0070059 9.71 BAX BCL2
17 homeostasis of number of cells within a tissue GO:0048873 9.71 BAX BCL2
18 positive regulation of protein phosphorylation GO:0001934 9.71 FAS IL1B TNF VEGFA
19 positive regulation of p38MAPK cascade GO:1900745 9.7 IL1B VEGFA
20 regulation of mitochondrial membrane potential GO:0051881 9.7 BAX BCL2
21 positive regulation of interleukin-8 production GO:0032757 9.7 IL1B TNF
22 negative regulation of apoptotic signaling pathway GO:2001234 9.69 BAX BCL2
23 negative regulation of neurogenesis GO:0050768 9.69 IL1B TNF
24 positive regulation of protein complex assembly GO:0031334 9.69 TNF VEGFA
25 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.69 BAX BCL2 TNF
26 B cell homeostasis GO:0001782 9.68 BAX BCL2
27 apoptotic mitochondrial changes GO:0008637 9.68 BAX BCL2
28 release of cytochrome c from mitochondria GO:0001836 9.68 BAX BCL2
29 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.68 IL1B VEGFA
30 negative regulation of lipid catabolic process GO:0050995 9.67 IL1B TNF
31 positive regulation of glial cell proliferation GO:0060252 9.67 IL1B TNF
32 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.67 IL1B TNF
33 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.66 IL1B TNF
34 endoplasmic reticulum calcium ion homeostasis GO:0032469 9.66 BAX BCL2
35 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.65 IL1B TNF
36 regulation of protein heterodimerization activity GO:0043497 9.65 BAX BCL2
37 extrinsic apoptotic signaling pathway GO:0097191 9.65 BAX FAS TNF
38 response to salt stress GO:0009651 9.64 BAX TNF
39 positive regulation of chemokine biosynthetic process GO:0045080 9.64 IL1B TNF
40 ectopic germ cell programmed cell death GO:0035234 9.63 BAX IL1B
41 cellular response to organic substance GO:0071310 9.63 BAX BCL2 IL1B
42 regulation of establishment of endothelial barrier GO:1903140 9.62 IL1B TNF
43 regulation of protein homodimerization activity GO:0043496 9.62 BAX BCL2
44 ovarian follicle development GO:0001541 9.61 BAX BCL2 VEGFA
45 leukocyte homeostasis GO:0001776 9.6 BAX BCL2
46 necroptotic signaling pathway GO:0097527 9.59 FAS TNF
47 positive regulation of neuroinflammatory response GO:0150078 9.58 IL1B TNF
48 positive regulation of fever generation GO:0031622 9.57 IL1B TNF
49 response to glucocorticoid GO:0051384 9.56 BCL2 TNF
50 sequestering of triglyceride GO:0030730 9.52 IL1B TNF

Molecular functions related to Kashin-Beck Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.35 BAX BCL2 FAS TNF VEGFA
2 cytokine activity GO:0005125 9.33 IL1B TNF VEGFA
3 channel activity GO:0015267 9.26 BAX BCL2
4 BH3 domain binding GO:0051434 8.62 BAX BCL2

Sources for Kashin-Beck Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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