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RAPSN-related disorder

MedGen UID:
893618
Concept ID:
CN239397
Disease or Syndrome
Synonyms: RAPSN-related condition; RAPSN-Related Disorders

Professional guidelines

PubMed

Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group
Pediatr Neurol 2021 Oct;123:50-66. Epub 2021 Jul 24 doi: 10.1016/j.pediatrneurol.2021.07.011. PMID: 34399110
Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, Burazor I, Caforio ALP, Damy T, Eriksson U, Fontana M, Gillmore JD, Gonzalez-Lopez E, Grogan M, Heymans S, Imazio M, Kindermann I, Kristen AV, Maurer MS, Merlini G, Pantazis A, Pankuweit S, Rigopoulos AG, Linhart A
Eur Heart J 2021 Apr 21;42(16):1554-1568. doi: 10.1093/eurheartj/ehab072. PMID: 33825853Free PMC Article
Greenberg JA, Hsu J, Bawazeer M, Marshall J, Friedrich JO, Nathens A, Coburn N, May GR, Pearsall E, McLeod RS
Can J Surg 2016 Apr;59(2):128-40. doi: 10.1503/cjs.015015. PMID: 27007094Free PMC Article

Recent clinical studies

Etiology

Gudjonsson A, Gudmundsdottir V, Axelsson GT, Gudmundsson EF, Jonsson BG, Launer LJ, Lamb JR, Jennings LL, Aspelund T, Emilsson V, Gudnason V
Nat Commun 2022 Jan 25;13(1):480. doi: 10.1038/s41467-021-27850-z. PMID: 35078996Free PMC Article
Momen NC, Plana-Ripoll O, Agerbo E, Benros ME, Børglum AD, Christensen MK, Dalsgaard S, Degenhardt L, de Jonge P, Debost JPG, Fenger-Grøn M, Gunn JM, Iburg KM, Kessing LV, Kessler RC, Laursen TM, Lim CCW, Mors O, Mortensen PB, Musliner KL, Nordentoft M, Pedersen CB, Petersen LV, Ribe AR, Roest AM, Saha S, Schork AJ, Scott KM, Sievert C, Sørensen HJ, Stedman TJ, Vestergaard M, Vilhjalmsson B, Werge T, Weye N, Whiteford HA, Prior A, McGrath JJ
N Engl J Med 2020 Apr 30;382(18):1721-1731. doi: 10.1056/NEJMoa1915784. PMID: 32348643Free PMC Article
Vermeulen R, Schymanski EL, Barabási AL, Miller GW
Science 2020 Jan 24;367(6476):392-396. doi: 10.1126/science.aay3164. PMID: 31974245Free PMC Article
Dantzer R, O'Connor JC, Freund GG, Johnson RW, Kelley KW
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Link BG, Phelan J
J Health Soc Behav 1995;Spec No:80-94. PMID: 7560851

Diagnosis

Kwan J, Vullaganti M
Muscle Nerve 2022 Sep;66(3):240-252. Epub 2022 May 24 doi: 10.1002/mus.27567. PMID: 35607838
Braicu C
Int J Mol Sci 2021 Nov 30;22(23) doi: 10.3390/ijms222312944. PMID: 34884749Free PMC Article
Momen NC, Plana-Ripoll O, Agerbo E, Benros ME, Børglum AD, Christensen MK, Dalsgaard S, Degenhardt L, de Jonge P, Debost JPG, Fenger-Grøn M, Gunn JM, Iburg KM, Kessing LV, Kessler RC, Laursen TM, Lim CCW, Mors O, Mortensen PB, Musliner KL, Nordentoft M, Pedersen CB, Petersen LV, Ribe AR, Roest AM, Saha S, Schork AJ, Scott KM, Sievert C, Sørensen HJ, Stedman TJ, Vestergaard M, Vilhjalmsson B, Werge T, Weye N, Whiteford HA, Prior A, McGrath JJ
N Engl J Med 2020 Apr 30;382(18):1721-1731. doi: 10.1056/NEJMoa1915784. PMID: 32348643Free PMC Article
Naviaux RK
Mitochondrion 2014 May;16:7-17. Epub 2013 Aug 24 doi: 10.1016/j.mito.2013.08.006. PMID: 23981537
Clark LA, Watson D
J Abnorm Psychol 1991 Aug;100(3):316-36. doi: 10.1037//0021-843x.100.3.316. PMID: 1918611

Therapy

Borghesan M, Hoogaars WMH, Varela-Eirin M, Talma N, Demaria M
Trends Cell Biol 2020 Oct;30(10):777-791. Epub 2020 Aug 13 doi: 10.1016/j.tcb.2020.07.002. PMID: 32800659
Woodcock J, LaVange LM
N Engl J Med 2017 Jul 6;377(1):62-70. doi: 10.1056/NEJMra1510062. PMID: 28679092
Andrews G
Aust N Z J Psychiatry 1989 Jun;23(2):181-6. doi: 10.3109/00048678909062134. PMID: 2673195
Maier W, Buller R, Philipp M, Heuser I
J Affect Disord 1988 Jan-Feb;14(1):61-8. doi: 10.1016/0165-0327(88)90072-9. PMID: 2963053
Br Med J 1978 Aug 12;2(6135):454-5. PMID: 354745Free PMC Article

Prognosis

Hirata M, Nagai A, Kamatani Y, Ninomiya T, Tamakoshi A, Yamagata Z, Kubo M, Muto K, Kiyohara Y, Mushiroda T, Murakami Y, Yuji K, Furukawa Y, Zembutsu H, Tanaka T, Ohnishi Y, Nakamura Y; BioBank Japan Cooperative Hospital Group, Matsuda K
J Epidemiol 2017 Mar;27(3S):S22-S28. Epub 2017 Feb 10 doi: 10.1016/j.je.2016.12.006. PMID: 28190660Free PMC Article
Del Principe D, Marconi M, Matarrese P, Villani A, Malorni W
Curr Mol Med 2013 May;13(4):499-513. doi: 10.2174/1566524011313040004. PMID: 23438904
Pressman SD, Cohen S
Psychol Bull 2005 Nov;131(6):925-971. doi: 10.1037/0033-2909.131.6.925. PMID: 16351329
Tsai TT, Nienaber CA, Eagle KA
Circulation 2005 Dec 13;112(24):3802-13. doi: 10.1161/CIRCULATIONAHA.105.534198. PMID: 16344407
Hampson NB, Culver BH
Semin Ultrasound CT MR 1997 Oct;18(5):314-22. doi: 10.1016/s0887-2171(97)90009-3. PMID: 9343843

Clinical prediction guides

Morrone D, Gentile F, Aimo A, Cameli M, Barison A, Picoi ME, Guglielmo M, Villano A, DeVita A, Mandoli GE, Pastore MC, Barillà F, Mancone M, Pedrinelli R, Indolfi C, Filardi PP, Muscoli S, Tritto I, Bergamaschi L, Pizzi C, Camici PG, Marzilli M, Crea F, Caterina R, Pontone G, Neglia D, Lanza GA; Coronary Physiopathology and Microcirculation Working Group and Cluster Imaging of the Italian Society of Cardiology (SIC)
Int J Cardiol 2022 Oct 15;365:19-29. Epub 2022 Jul 25 doi: 10.1016/j.ijcard.2022.07.038. PMID: 35901907
Carroll BJ, Schermerhorn ML, Manning WJ
Heart 2020 Feb;106(3):182-189. Epub 2019 Dec 10 doi: 10.1136/heartjnl-2019-314897. PMID: 31822571
Clemens RK, Pfammatter T, Meier TO, Alomari AI, Amann-Vesti BR
Vasa 2015 Mar;44(2):92-105. doi: 10.1024/0301-1526/a000414. PMID: 25698387
Scott IC, Scott DL
Clin Exp Rheumatol 2014 Sep-Oct;32(5 Suppl 85):S-7-12. Epub 2014 Oct 30 PMID: 25365082
Agatston AS, Janowitz WR, Hildner FJ, Zusmer NR, Viamonte M Jr, Detrano R
J Am Coll Cardiol 1990 Mar 15;15(4):827-32. doi: 10.1016/0735-1097(90)90282-t. PMID: 2407762

Recent systematic reviews

Biswas S, Gomez J, Horgan R, Sibai BM, Saad A, Powel JE, Al-Kouatly HB
Am J Obstet Gynecol MFM 2023 Sep;5(9):101067. Epub 2023 Jun 28 doi: 10.1016/j.ajogmf.2023.101067. PMID: 37385374
Balboni TA, VanderWeele TJ, Doan-Soares SD, Long KNG, Ferrell BR, Fitchett G, Koenig HG, Bain PA, Puchalski C, Steinhauser KE, Sulmasy DP, Koh HK
JAMA 2022 Jul 12;328(2):184-197. doi: 10.1001/jama.2022.11086. PMID: 35819420
Sosa-Reina MD, Nunez-Nagy S, Gallego-Izquierdo T, Pecos-Martín D, Monserrat J, Álvarez-Mon M
Biomed Res Int 2017;2017:2356346. Epub 2017 Sep 20 doi: 10.1155/2017/2356346. PMID: 29291206Free PMC Article
Sorensen CJ, DeSanto K, Borgelt L, Phillips KT, Monte AA
J Med Toxicol 2017 Mar;13(1):71-87. Epub 2016 Dec 20 doi: 10.1007/s13181-016-0595-z. PMID: 28000146Free PMC Article
Karmacharya P, Donato AA, Aryal MR, Ghimire S, Pathak R, Shah K, Shrestha P, Poudel D, Wasser T, Subedi A, Giri S, Jalota L, Olivé A
Clin Exp Rheumatol 2016 May-Jun;34(3):404-15. Epub 2016 Mar 25 PMID: 27050250

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