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Joint formation defects

MedGen UID:
1842661
Concept ID:
C5680994
Congenital Abnormality
Orphanet: ORPHA294949

Professional guidelines

PubMed

Durcan L, O'Dwyer T, Petri M
Lancet 2019 Jun 8;393(10188):2332-2343. Epub 2019 Jun 6 doi: 10.1016/S0140-6736(19)30237-5. PMID: 31180030
Galiè N, Humbert M, Vachiery JL, Gibbs S, Lang I, Torbicki A, Simonneau G, Peacock A, Vonk Noordegraaf A, Beghetti M, Ghofrani A, Gomez Sanchez MA, Hansmann G, Klepetko W, Lancellotti P, Matucci M, McDonagh T, Pierard LA, Trindade PT, Zompatori M, Hoeper M; ESC Scientific Document Group
Eur Heart J 2016 Jan 1;37(1):67-119. Epub 2015 Aug 29 doi: 10.1093/eurheartj/ehv317. PMID: 26320113
Dieppe PA, Lohmander LS
Lancet 2005 Mar 12-18;365(9463):965-73. doi: 10.1016/S0140-6736(05)71086-2. PMID: 15766999

Recent clinical studies

Etiology

Matheus HR, Özdemir ŞD, Guastaldi FPS
Osteoarthritis Cartilage 2022 Sep;30(9):1174-1185. Epub 2022 May 18 doi: 10.1016/j.joca.2022.05.006. PMID: 35597373
Qiu J, Wu B, Goodman SB, Berry GJ, Goronzy JJ, Weyand CM
Front Immunol 2021;12:652771. Epub 2021 Apr 2 doi: 10.3389/fimmu.2021.652771. PMID: 33868292Free PMC Article
Makris EA, Gomoll AH, Malizos KN, Hu JC, Athanasiou KA
Nat Rev Rheumatol 2015 Jan;11(1):21-34. Epub 2014 Sep 23 doi: 10.1038/nrrheum.2014.157. PMID: 25247412Free PMC Article
Dieppe PA, Lohmander LS
Lancet 2005 Mar 12-18;365(9463):965-73. doi: 10.1016/S0140-6736(05)71086-2. PMID: 15766999
Conway B, Rene A
Obes Rev 2004 Aug;5(3):145-51. doi: 10.1111/j.1467-789X.2004.00144.x. PMID: 15245383

Diagnosis

Torre YS, Wadeea R, Rosas V, Herbst KL
Horm Mol Biol Clin Investig 2018 Mar 9;33(1) doi: 10.1515/hmbci-2017-0076. PMID: 29522416Free PMC Article
Carpenter TO, Shaw NJ, Portale AA, Ward LM, Abrams SA, Pettifor JM
Nat Rev Dis Primers 2017 Dec 21;3:17101. doi: 10.1038/nrdp.2017.101. PMID: 29265106
Cubero A, Ayala J, Hamzeh G, Cortes A, Udaondo J, Aramendi JI
World J Pediatr Congenit Heart Surg 2017 Mar;8(2):231-234. Epub 2016 Jun 23 doi: 10.1177/2150135116629396. PMID: 27095117
Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697
Dieppe PA, Lohmander LS
Lancet 2005 Mar 12-18;365(9463):965-73. doi: 10.1016/S0140-6736(05)71086-2. PMID: 15766999

Therapy

Chang C, Greenspan A, Gershwin ME
J Autoimmun 2020 Jun;110:102460. Epub 2020 Apr 16 doi: 10.1016/j.jaut.2020.102460. PMID: 32307211
Durcan L, O'Dwyer T, Petri M
Lancet 2019 Jun 8;393(10188):2332-2343. Epub 2019 Jun 6 doi: 10.1016/S0140-6736(19)30237-5. PMID: 31180030
Galiè N, Humbert M, Vachiery JL, Gibbs S, Lang I, Torbicki A, Simonneau G, Peacock A, Vonk Noordegraaf A, Beghetti M, Ghofrani A, Gomez Sanchez MA, Hansmann G, Klepetko W, Lancellotti P, Matucci M, McDonagh T, Pierard LA, Trindade PT, Zompatori M, Hoeper M; ESC Scientific Document Group
Eur Heart J 2016 Jan 1;37(1):67-119. Epub 2015 Aug 29 doi: 10.1093/eurheartj/ehv317. PMID: 26320113
Makris EA, Gomoll AH, Malizos KN, Hu JC, Athanasiou KA
Nat Rev Rheumatol 2015 Jan;11(1):21-34. Epub 2014 Sep 23 doi: 10.1038/nrrheum.2014.157. PMID: 25247412Free PMC Article
Mantle D, Wilkins RM, Preedy V
Med Hypotheses 2005;64(2):279-83. doi: 10.1016/j.mehy.2004.07.023. PMID: 15607555

Prognosis

Kadowaki T, Maegawa H, Watada H, Yabe D, Node K, Murohara T, Wada J
Diabetes Obes Metab 2022 Dec;24(12):2283-2296. Epub 2022 Aug 25 doi: 10.1111/dom.14829. PMID: 35929483Free PMC Article
Durcan L, O'Dwyer T, Petri M
Lancet 2019 Jun 8;393(10188):2332-2343. Epub 2019 Jun 6 doi: 10.1016/S0140-6736(19)30237-5. PMID: 31180030
McGovern MM, Avetisyan R, Sanson BJ, Lidove O
Orphanet J Rare Dis 2017 Feb 23;12(1):41. doi: 10.1186/s13023-017-0572-x. PMID: 28228103Free PMC Article
Scanzello CR, Goldring SR
Bone 2012 Aug;51(2):249-57. Epub 2012 Feb 22 doi: 10.1016/j.bone.2012.02.012. PMID: 22387238Free PMC Article
Roberts S, Evans H, Trivedi J, Menage J
J Bone Joint Surg Am 2006 Apr;88 Suppl 2:10-4. doi: 10.2106/JBJS.F.00019. PMID: 16595436

Clinical prediction guides

Kreienkamp R, Gonzalo S
Cells 2020 Feb 8;9(2) doi: 10.3390/cells9020395. PMID: 32046343Free PMC Article
Lee WS, Kim HJ, Kim KI, Kim GB, Jin W
Stem Cells Transl Med 2019 Jun;8(6):504-511. Epub 2019 Mar 5 doi: 10.1002/sctm.18-0122. PMID: 30835956Free PMC Article
Oo WM, Bo MT
J Clin Rheumatol 2016 Sep;22(6):324-9. doi: 10.1097/RHU.0000000000000436. PMID: 27556241
Scanzello CR, Goldring SR
Bone 2012 Aug;51(2):249-57. Epub 2012 Feb 22 doi: 10.1016/j.bone.2012.02.012. PMID: 22387238Free PMC Article
Minegishi Y
Curr Opin Immunol 2009 Oct;21(5):487-92. Epub 2009 Aug 28 doi: 10.1016/j.coi.2009.07.013. PMID: 19717292

Recent systematic reviews

Matheus HR, Özdemir ŞD, Guastaldi FPS
Osteoarthritis Cartilage 2022 Sep;30(9):1174-1185. Epub 2022 May 18 doi: 10.1016/j.joca.2022.05.006. PMID: 35597373
Toloza FJK, Derakhshan A, Männistö T, Bliddal S, Popova PV, Carty DM, Chen L, Taylor P, Mosso L, Oken E, Suvanto E, Itoh S, Kishi R, Bassols J, Auvinen J, López-Bermejo A, Brown SJ, Boucai L, Hisada A, Yoshinaga J, Shilova E, Grineva EN, Vrijkotte TGM, Sunyer J, Jiménez-Zabala A, Riaño-Galan I, Lopez-Espinosa MJ, Prokop LJ, Singh Ospina N, Brito JP, Rodriguez-Gutierrez R, Alexander EK, Chaker L, Pearce EN, Peeters RP, Feldt-Rasmussen U, Guxens M, Chatzi L, Delles C, Roeters van Lennep JE, Pop VJM, Lu X, Walsh JP, Nelson SM, Korevaar TIM, Maraka S
Lancet Diabetes Endocrinol 2022 Apr;10(4):243-252. Epub 2022 Mar 4 doi: 10.1016/S2213-8587(22)00007-9. PMID: 35255260Free PMC Article
Helgeland E, Shanbhag S, Pedersen TO, Mustafa K, Rosén A
Tissue Eng Part B Rev 2018 Aug;24(4):300-316. Epub 2018 Mar 8 doi: 10.1089/ten.TEB.2017.0429. PMID: 29400140
Eagleton MJ
J Vasc Surg 2016 Dec;64(6):1869-1880. Epub 2016 Sep 26 doi: 10.1016/j.jvs.2016.06.120. PMID: 27687326
Hunter DJ, Zhang W, Conaghan PG, Hirko K, Menashe L, Li L, Reichmann WM, Losina E
Osteoarthritis Cartilage 2011 May;19(5):557-88. Epub 2011 Mar 23 doi: 10.1016/j.joca.2010.10.029. PMID: 21396463Free PMC Article

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    Clinical resources

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