Buerger Disease (TAO)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Buerger Disease

MalaCards integrated aliases for Buerger Disease:

Name: Buerger Disease 57 53 59 37 55 38
Thromboangiitis Obliterans 57 12 53 59 44 15 17 72
Buerger's Disease 12 75 53
Inflammatory Occlusive Peripheral Vascular Disease 53
Occlusive Peripheral Vascular Disease 53
Presenile Gangrene 12
Tao 53


Orphanet epidemiological data:

buerger disease
Prevalence: 1-5/10000 (Worldwide),1-5/10000 (Europe); Age of onset: Adult; Age of death: normal life expectancy;


autosomal recessive


buerger disease:
Inheritance autosomal recessive inheritance


External Ids:

Disease Ontology 12 DOID:12918
OMIM 57 211480
KEGG 37 H01625
ICD9CM 35 443.1
MeSH 44 D013919
NCIt 50 C35070
SNOMED-CT 68 52403007
ICD10 33 I73.1
ICD10 via Orphanet 34 I73.1
UMLS via Orphanet 73 C0040021
Orphanet 59 ORPHA36258
MedGen 42 C0040021
UMLS 72 C0040021

Summaries for Buerger Disease

NIH Rare Diseases : 53 Buerger disease is a disease in which small and medium-sized blood vessels in the arms and/or legs become inflamed and blocked (vasculitis). This reduces blood flow to affected areas of the body, eventually resulting damage to tissues. Symptoms of Buerger disease may include coldness, numbness, tingling or burning, and pain. Symptoms may first be felt in the fingertips or toes, and then move further up the arms or legs. Additional symptoms that may develop include changes in the texture and color of the skin, Raynaud's phenomenon, painful muscle cramps, swelling (edema), skin ulcers, and gangrene. Rare complications that have been reported include transient ischemic attacks or stroke, and heart attack. Buerger disease almost always occurs in people who use tobacco, but it is not known exactly how tobacco plays a role in the development of the disease. Some people may have a genetic predisposition to Buerger disease. It is also possible that Buerger disease is an autoimmune disease, as the immune system seems to play a large role in its development. More research is needed to identify the exact underlying causes. Quitting all forms of tobacco is an essential part of stopping the progression of the disease. There are no definitive treatments, but certain therapies may improve symptoms in some people. Therapies that have been reported with varying success include medications to improve blood flow and reduce the risk of clots, pain medicines, compression of the arms and legs, spinal cord stimulation, and surgery to control pain and increase blood flow. Amputation may be necessary if gangrene or a serious infection develops.

MalaCards based summary : Buerger Disease, also known as thromboangiitis obliterans, is related to blue toe syndrome and peripheral vascular disease. An important gene associated with Buerger Disease is APOH (Apolipoprotein H), and among its related pathways/superpathways are Integrin Pathway and Response to elevated platelet cytosolic Ca2+. The drugs Sodium citrate and Citric acid have been mentioned in the context of this disorder. Affiliated tissues include Adipose and Adipose, and related phenotypes are skin ulcer and gangrene

KEGG : 37
Buerger disease, also known as thromboangiitis obliterans, is a nonatherosclerotic, inflammatory disease that most commonly affects the small and medium-sized arteries and veins in the upper and lower extremities. Cigarette smoking has been implicated as the main etiology of the disease. Although Buerger's disease has a worldwide distribution, it is more prevalent in the Middle East and Far East and classically develops in male smokers younger than 45 years. There may be a predisposition to development of Buerger's disease, although no gene has been identified to date. The most common symptom is pain at rest and claudication in the affected hands or feet. Other symptoms include cold insensitivity, diminished peripheral pulses, cyanosis, skin atrophy, and reduced hair growth. As the disease progresses, patients will develop ischemic ulcerations and eventually gangrene. Abstinence from smoking is the definitive treatment to prevent disease progression. Medical line of treatment with vasodilators, pentoxyfylline, and cilostazol may help improve pain-free walking distance but cannot prevent disease progression. Surgical treatment in form of revascularization and sympathectomy increases peripheral blood flow and decreases the rate of amputations. Newer therapy with prostaglandins, bosentan, and stem cell therapy has shown promising results.

Wikipedia : 75 Thromboangiitis obliterans, also known as Buerger disease (English /b??rg?r/, German /byrg?r/), is a... more...

More information from OMIM: 211480

Related Diseases for Buerger Disease

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

(show top 50) (show all 261)
# Related Disease Score Top Affiliating Genes
1 blue toe syndrome 30.7 SERPINE1 F2
2 peripheral vascular disease 30.6 SERPINE1 SELE F2
3 homocysteinemia 30.5 NOS3 MTHFR F2
4 intermittent claudication 30.5 SERPINE1 F2 APOH
5 venous insufficiency 30.3 SERPINE1 F2
6 blood protein disease 30.3 MTHFR F2
7 arteries, anomalies of 30.3 SERPINE1 SELE NOS3
8 atherosclerosis susceptibility 30.3 SERPINE1 SELE NOS3
9 ischemic colitis 30.3 SERPINE1 F2 APOH
10 thrombosis 30.2 SERPINE1 MTHFR F2 APOH
11 polyarteritis nodosa 30.1 SELE APOH
12 varicose veins 30.1 MTHFR MMP3 F2
13 coronary heart disease 1 30.0 SERPINE1 NOS3 MTHFR
14 coronary artery anomaly 30.0 SERPINE1 NOS3 F2
15 nonarteritic anterior ischemic optic neuropathy 30.0 NOS3 MTHFR F2
16 thrombotic thrombocytopenic purpura 30.0 SELE APOH
17 branch retinal artery occlusion 30.0 MTHFR F2 APOH
18 thrombophilia due to thrombin defect 29.9 SERPINE1 MTHFR F2 APOH
19 thrombophilia 29.8 SERPINE1 MTHFR F2 APOH
20 antiphospholipid syndrome 29.8 SELE MTHFR F2 APOH
21 protein s deficiency 29.7 MTHFR F2 APOH
22 budd-chiari syndrome 29.6 MTHFR F2 APOH
23 retinal artery occlusion 29.6 SERPINE1 MTHFR F2 APOH
24 pulmonary embolism 29.5 SERPINE1 MTHFR F2 APOH
25 thrombophlebitis 29.5 SERPINE1 MTHFR F2 APOH
26 aortic aneurysm, familial abdominal, 1 29.3 PLAU MMP3
27 vascular disease 28.6 SERPINE1 SELE NOS3 MTHFR MMP3 F2
28 myocardial infarction 27.2 SERPINE1 NOS3 MTHFR MMP3 ITGA2 F2
29 carotid artery thrombosis 10.5 SERPINE1 NOS3
30 autoimmune disease 10.5
31 periodontitis 10.4
32 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.4
33 ischemia 10.4
34 carotid artery occlusion 10.4 NOS3 APOH
35 thrombophlebitis migrans 10.4
36 hypoglycemia 10.4
37 takayasu arteritis 10.4
38 limb ischemia 10.4
39 vasculitis 10.4
40 hemifacial spasm 10.4 NOS3 MTHFR
41 amaurosis fugax 10.3 SERPINE1 MTHFR
42 neonatal stroke 10.3 SERPINE1 MTHFR
43 cerebral sinovenous thrombosis 10.3 F2 APOH
44 prothrombin deficiency, congenital 10.3 F2 APOH
45 legg-calve-perthes disease 10.3 SERPINE1 APOH
46 connective tissue disease 10.3
47 papilledema 10.3 F2 APOH
48 post-thrombotic syndrome 10.3 SERPINE1 F2
49 sneddon syndrome 10.3 F2 APOH
50 peripheral vertigo 10.3 F2 APOH

Comorbidity relations with Buerger Disease via Phenotypic Disease Network (PDN):

Hypertension, Essential Peripheral Vascular Disease

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

Diseases related to Buerger Disease

Symptoms & Phenotypes for Buerger Disease

Human phenotypes related to Buerger Disease:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0200042
2 gangrene 59 32 hallmark (90%) Very frequent (99-80%) HP:0100758
3 vasculitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002633
4 arterial thrombosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004420
5 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
6 acrocyanosis 59 32 frequent (33%) Frequent (79-30%) HP:0001063
7 paresthesia 59 32 frequent (33%) Frequent (79-30%) HP:0003401
8 hyperhidrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000975
9 insomnia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100785
10 sensory neuropathy 59 Very frequent (99-80%)
11 pain 32 HP:0012531
12 raynaud phenomenon 32 HP:0030880
13 limb pain 32 HP:0009763

Symptoms via clinical synopsis from OMIM:

raynaud's phenomenon

red, elevated areas over venous valves
digital ulcers

Clinical features from OMIM:


MGI Mouse Phenotypes related to Buerger Disease:

# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.1 APOH CD14 F2 ITGA2 MMP3 MTHFR
2 hematopoietic system MP:0005397 10.03 CD14 F2 ITGA2 MMP3 NOS3 PLAU
3 immune system MP:0005387 9.91 CD14 F2 MMP3 NOS3 PLAU SELE
4 integument MP:0010771 9.8 F2 ITGA2 MTHFR PLAU SELE SERPINE1
5 mortality/aging MP:0010768 9.76 APOH CD14 F2 MTHFR NOS3 PLAU
6 liver/biliary system MP:0005370 9.65 MTHFR NOS3 PLAU SELE SERPINE1
7 respiratory system MP:0005388 9.43 CD14 F2 NOS3 PLAU SELE SERPINE1
8 skeleton MP:0005390 9.1 CD14 F2 MMP3 MTHFR NOS3 PLAU

Drugs & Therapeutics for Buerger Disease

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Sodium citrate Approved, Investigational Phase 1, Phase 2 68-04-2
Citric acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
3 Citrate Phase 1, Phase 2
4 Anticoagulants Phase 2
5 Vasodilator Agents Phase 2
Bosentan Approved, Investigational 147536-97-8 104865
7 Endothelin Receptor Antagonists
8 Antihypertensive Agents
9 Anesthetics
10 Pharmaceutical Solutions

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Transplantation of Autologous BM-MNC Processed by ResQ Separator and Conventional Manual Method for Patients With Chronic Limb Ischemia: a Multi-center Randomized Controlled Trial Unknown status NCT01446055 Phase 1, Phase 2
2 Effectiveness and Safety of Adipose-Derived Regenerative Cells for the Treatment of Critical Lower Limb Ischemia Unknown status NCT02864654 Phase 1, Phase 2
3 A Non-randomized, Open Label, Multicentric, Dose Ranging , Phase II Study Assessing the Efficacy and Safety of Intramuscular Administration of Stempeucel - CLI™ (ex Vivo Cultured Adult Bone Marrow Derived Allogeneic Mesenchymal Stem Cells) in Patients With Critical Limb Ischemia Due to Buerger's Disease Completed NCT01484574 Phase 2
4 Autologous Immunomagnetic Selected cd133+ Cells in the Treatment of No-option Critical Limb Ischemia: Clinical and Ceus Assessed Results. Completed NCT01595776 Phase 1, Phase 2
5 A Prospective, Open Label, Controlled, Randomized, Multicenter Study to Assess the Efficacy and Safety of CLBS12 in Patients With Critical Limb Ischemia (CLI) Due to Arteriosclerosis Obliterans (ASO) With a Single-arm Substudy to Assess the Safety and Potential Efficacy of CLBS12 in Patients With CLI Due to Buerger's Disease (BD) Recruiting NCT02501018 Phase 2 SOC
6 A Single Arm, Open Label, Multicentric, Clinical Study Assessing the Efficacy and Safety of Stempeucel® (ex Vivo Cultured Adult Bone Marrow Derived Allogeneic Mesenchymal Stem Cells) in Patients With CLI Due to Buerger's Disease Withdrawn NCT03056742 Phase 2
7 Therapeutic Angiogenesis Using Cell Transplantation (TACT) Study at Nagoya Unknown status NCT00145262
8 Randomized Control Trial on Purified CD34+ Cells Versus Peripheral Blood Mononuclear Cells in Treatment of Critical Limb Ischemia Unknown status NCT02089828
9 Safety and Efficacy of Autologous Adipose Tissue Derived Mesenchymal Stem Cells Transplantation in Patient With Buerger's Disease Completed NCT01302015
10 Treatment of Thromboangiitis Obliterans (Buerger's Disease) With Bosentan Completed NCT01447550 Bosentan
11 Study of Psychological and Addictive Profile of Patients With Buerger's Disease Completed NCT01064206
12 Echographie de Contraste Pour l'Analyse de la Perfusion Musculaire Dans l'ischémie Critique Completed NCT02128750
13 A Trial Comparing Pain During Local Tumesent Injection In Fingers Using Different Syringe-Needle Combinations Recruiting NCT03736915

Search NIH Clinical Center for Buerger Disease

Inferred drug relations via UMLS 72 / NDF-RT 51 :

Isoxsuprine Hydrochloride
Tolazoline Hydrochloride

Cell-based therapeutics:

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Buerger Disease cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: thromboangiitis obliterans

Genetic Tests for Buerger Disease

Anatomical Context for Buerger Disease

MalaCards organs/tissues related to Buerger Disease:

Skin, Bone, Spinal Cord, Heart, Bone Marrow, Endothelial, Colon
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Buerger Disease:
# Tissue Anatomical CompartmentCell Relevance
1 Adipose Subcutaneous White Adipose Mesenchymal Stem Cells Potential therapeutic candidate
2 Adipose Subcutaneous White Adipose Stromal Cells Potential therapeutic candidate

Publications for Buerger Disease

Articles related to Buerger Disease:

(show top 50) (show all 1001)
# Title Authors PMID Year
Thromboangiitis obliterans (Buerger's disease). 38 8
11188842 2001
Thromboangiitis obliterans (Buerger's disease). 38 8
10995867 2000
Cellular sensitivity to collagen in thromboangiitis obliterans. 38 8
6835334 1983
Evidence for an HLA-linked resistance gene in Buerger's disease. 38 8
91227 1979
Buerger's disease and anticardiolipin antibodies. 9 38
19455050 2009
Compartment syndrome in patients with Buerger disease and anticardiolipin antibodies. 9 38
18580711 2008
Are anticardiolipin antibodies really important in thromboangiitis obliterans (Buerger's disease)? 9 38
12710839 2002
Serotonin as a factor involved in pathophysiology of thromboangiitis obliterans. 9 38
8376917 1993
Risk Factors, Mechanisms and Treatments of Thromboangiitis Obliterans: An Overview of Recent Research. 38
31419926 2019
Angiogenesis induction in Buerger's disease: a disease management double-edged sword? 38
31383033 2019
Botany, traditional uses, phytochemistry, pharmacology and toxicology of Ilex pubescens Hook et Arn. 38
31401319 2019
Case report of two pregnancies and deliveries by a woman with Buerger disease. 38
31368151 2019
[Acute carpal tunnel syndrome caused by a thrombosis of a persistent median artery: 2 case reports]. 38
31040049 2019
Endovascular Recanalization of Thromboangiitis Obliterans (Buerger's Disease) in Twenty-Eight Consecutive Patients and Combined Antegrade-Retrograde Intervention in Eight Patients. 38
30834476 2019
Molecular mechanisms regulating immune responses in thromboangiitis obliterans: A comprehensive review. 38
31156780 2019
Unexpected inflammation in the sympathetic ganglia in thromboangiitis obliterans: more likely sterile or infectious induced inflammation? 38
31316304 2019
Thromboangiitis Obliterans: Changing Demographics for a Preventable Disease. 38
30899620 2019
[Comprehensive treatment of a patient with Buerger's disease using genetically engineered complexes VEGF-165]. 38
30994625 2019
[Marijuana-associated peripheral arteriopathy]. 38
31048280 2019
Homozygous Factor V Leiden Thrombophilia in a Patient With Histologically Confirmed Thromboangiitis Obliterans. 38
30792584 2019
Effects of aspirin combined with cilostazol on thromboangiitis obliterans in diabetic patients. 38
30546409 2018
Long-Term Outcome and Prognostic Factors of Complications in Thromboangiitis Obliterans (Buerger's Disease): A Multicenter Study of 224 Patients. 38
30571594 2018
Thromboangiitis Obliterans: 110 Years Old and Little Progress Made. 38
30571606 2018
Stem cell therapy for treatment of thromboangiitis obliterans (Buerger's disease). 38
30378681 2018
Performance of noninvasive laser Doppler flowmetry and laser speckle contrast imaging methods in diagnosis of Buerger disease: A case report. 38
30412126 2018
Alleviation of A disintegrin and metalloprotease 10 (ADAM10) on thromboangiitis obliterans involves the HMGB1/RAGE/ NF-κB pathway. 38
30245136 2018
Cilostazol on the expression of ICAM-1, VCAM-1 and inflammatory factors in plasma in patients with thromboangiitis obliterans. 38
30186478 2018
Vascular Changes of Complex Regional Pain Syndrome Unmask Buerger's Disease (Thromboangiitis Obliterans): A Letter to the Editor. 38
29800280 2018
Purified CD34+ cells versus peripheral blood mononuclear cells in the treatment of angiitis-induced no-option critical limb ischaemia: 12-Month results of a prospective randomised single-blinded non-inferiority trial. 38
30172703 2018
Three cases of dorsal metatarsal artery bypass in patients with Buerger disease. 38
30148235 2018
Anti-inflammatory activities and potential mechanisms of phenolic acids isolated from Salvia miltiorrhiza f. alba roots in THP-1 macrophages. 38
29751125 2018
Immediate and late outcomes of endovascular therapy for lower extremity arteries in Buerger disease. 38
29157680 2018
[Acute kidney injury in thromboangiitis obliterans disease]. 38
29291940 2018
Treatment of multiple refractory ankle ulcerations in thromboangiitis obliterans: A case report. 38
29768374 2018
Sequential intravenous allogeneic mesenchymal stromal cells as a potential treatment for thromboangiitis obliterans (Buerger's disease). 38
29848379 2018
How to Treat a Patient with Thromboangiitis Obliterans: A Systematic Review. 38
29421414 2018
Effect of revascularization on IL-6 and TNF-α in patients with thromboangiitis obliterans. 38
29556267 2018
The Status of Nitric Oxide and its Backup, Heme Oxygenase 1, in Thromboangiitis Obliterans. 38
29766003 2018
The IL-6/STAT3 pathway regulates adhesion molecules and cytoskeleton of endothelial cells in thromboangiitis obliterans. 38
29339086 2018
Hyperbaric oxygen treatment in thromboangiitis obliterans: a retrospective clinical audit. 38
29557099 2018
Treatment of Arsenite Intoxication-Induced Peripheral Vasculopathy with Mesenchymal Stem Cells. 38
29596344 2018
Long-Term Clinical Outcomes Survey of Bone Marrow-Derived Cell Therapy in Critical Limb Ischemia in Japan. 38
29386474 2018
Autologous bone marrow-derived mononuclear cell therapy in Chinese patients with critical limb ischemia due to thromboangiitis obliterans: 10-year results. 38
29471870 2018
Endovascular Treatment of Thromboangiitis Obliterans (Buerger's Disease). 38
29237360 2018
Chronic Nonatherosclerotic Occlusive Popliteal Artery Disease. 38
28887249 2018
[Digital ischemia revealing multiple myeloma]. 38
29425543 2018
Thromboangiitis obliterans episode: autoimmune flare-up or reinfection? 38
30319267 2018
Four-extremity salvage with long vein grafts in buerger disease. 38
29076321 2018
Thromboangiitis obliterans - what do we know 110 years after the description of the disease by Leo Buerger. 38
30345778 2018
Levistilide A Ameliorates NLRP3 Expression Involving the Syk-p38/JNK Pathway and Peripheral Obliterans in Rats. 38
30158835 2018

Variations for Buerger Disease

Expression for Buerger Disease

Search GEO for disease gene expression data for Buerger Disease.

Pathways for Buerger Disease

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

(show all 14)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
Show member pathways
5 11.88 PLAU MMP3 CD14
Show member pathways
7 11.69 SERPINE1 PLAU F2
Show member pathways
11.6 MMP3 F2 CD14
10 11.19 SELE NOS3
11 11.12 SELE MMP3
12 11.01 PLAU NOS3
14 10.37 SERPINE1 PLAU

GO Terms for Buerger Disease

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.63 SERPINE1 PLAU MMP3 F2 CD14 APOH
2 cell surface GO:0009986 9.26 PLAU ITGA2 CD14 APOH
3 extracellular space GO:0005615 9.17 SERPINE1 SELE PLAU MMP3 F2 CD14

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.69 PLAU ITGA2 F2
2 response to lipopolysaccharide GO:0032496 9.65 SELE NOS3 CD14
3 lipopolysaccharide-mediated signaling pathway GO:0031663 9.56 NOS3 CD14
4 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.55 SERPINE1 NOS3
5 response to interleukin-1 GO:0070555 9.54 SELE MTHFR
6 response to tumor necrosis factor GO:0034612 9.52 SELE CD14
7 positive regulation of collagen biosynthetic process GO:0032967 9.49 ITGA2 F2
8 blood coagulation, intrinsic pathway GO:0007597 9.46 F2 APOH
9 negative regulation of blood coagulation GO:0030195 9.43 SERPINE1 APOH
10 response to hypoxia GO:0001666 9.43 PLAU MTHFR ITGA2
11 regulation of blood coagulation GO:0030193 9.4 F2 APOH
12 plasminogen activation GO:0031639 9.37 PLAU APOH
13 fibrinolysis GO:0042730 9.33 SERPINE1 PLAU F2
14 negative regulation of platelet activation GO:0010544 9.32 NOS3 F2
15 positive regulation of blood coagulation GO:0030194 9.13 SERPINE1 F2 APOH
16 negative regulation of fibrinolysis GO:0051918 8.8 SERPINE1 F2 APOH

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

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 9.33 PLAU MMP3 F2
2 NADP binding GO:0050661 8.96 NOS3 MTHFR
3 lipopolysaccharide binding GO:0001530 8.62 F2 CD14

Sources for Buerger Disease

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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