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Sporadic

MedGen UID:
342827
Concept ID:
C1853237
Finding
Synonym: Isolated cases
 
HPO: HP:0003745

Definition

Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSporadic

Professional guidelines

PubMed

Fleseriu M, Langlois F, Lim DST, Varlamov EV, Melmed S
Lancet Diabetes Endocrinol 2022 Nov;10(11):804-826. Epub 2022 Oct 6 doi: 10.1016/S2213-8587(22)00244-3. PMID: 36209758
Selva-O'Callaghan A, Pinal-Fernandez I, Trallero-Araguás E, Milisenda JC, Grau-Junyent JM, Mammen AL
Lancet Neurol 2018 Sep;17(9):816-828. doi: 10.1016/S1474-4422(18)30254-0. PMID: 30129477
Caturegli P, De Remigis A, Rose NR
Autoimmun Rev 2014 Apr-May;13(4-5):391-7. Epub 2014 Jan 13 doi: 10.1016/j.autrev.2014.01.007. PMID: 24434360

Recent clinical studies

Etiology

Araujo-Castro M, Parra P, Martín Rojas-Marcos P, Paja Fano M, González Boillos M, Pascual-Corrales E, García Cano AM, Ruiz-Sanchez JG, Vicente Delgado A, Gómez Hoyos E, Ferreira R, García Sanz I, Recasens Sala M, Barahona San Millan R, Picón César MJ, Díaz Guardiola P, Perdomo CM, Manjón-Miguélez L, García Centeno R, Rebollo Román Á, Gracia Gimeno P, Robles Lázaro C, Morales-Ruiz M, Calatayud M, Furio Collao SA, Meneses D, Sampedro Nuñez M, Escudero Quesada V, Mena Ribas E, Sanmartín Sánchez A, Gonzalvo Diaz C, Lamas C, Del Castillo Tous M, Serrano Gotarredona J, Michalopoulou Alevras T, Moya Mateo EM, Hanzu FA
Front Endocrinol (Lausanne) 2024;15:1336306. Epub 2024 Mar 1 doi: 10.3389/fendo.2024.1336306. PMID: 38495792Free PMC Article
van der Ende EL, In 't Veld SGJG, Hanskamp I, van der Lee S, Dijkstra JIR, Hok-A-Hin YS, Blujdea ER, van Swieten JC, Irwin DJ, Chen-Plotkin A, Hu WT, Lemstra AW, Pijnenburg YAL, van der Flier WM, Del Campo M, Teunissen CE, Vermunt L
Brain 2023 Nov 2;146(11):4495-4507. doi: 10.1093/brain/awad213. PMID: 37348871Free PMC Article
Dunnett-Kane V, Burkitt-Wright E, Blackhall FH, Malliri A, Evans DG, Lindsay CR
Ann Oncol 2020 Jul;31(7):873-883. Epub 2020 Mar 30 doi: 10.1016/j.annonc.2020.03.291. PMID: 32240795Free PMC Article
Knight R
Prog Mol Biol Transl Sci 2017;150:293-318. Epub 2017 Aug 14 doi: 10.1016/bs.pmbts.2017.06.010. PMID: 28838665
Rao AT, Degnan AJ, Levy LM
AJNR Am J Neuroradiol 2014 Mar;35(3):457-8. Epub 2013 Mar 28 doi: 10.3174/ajnr.A3545. PMID: 23538412Free PMC Article

Diagnosis

Lieto M, Roca A, Santorelli FM, Fico T, De Michele G, Bellofatto M, Saccà F, De Michele G, Filla A
Neurol Sci 2019 Jul;40(7):1335-1342. Epub 2019 Mar 29 doi: 10.1007/s10072-019-03856-w. PMID: 30927137
Klockgether T
Handb Clin Neurol 2018;155:217-225. doi: 10.1016/B978-0-444-64189-2.00014-7. PMID: 29891060
Notari S, Appleby BS, Gambetti P
Handb Clin Neurol 2018;153:175-190. doi: 10.1016/B978-0-444-63945-5.00010-6. PMID: 29887135
Knight R
Prog Mol Biol Transl Sci 2017;150:293-318. Epub 2017 Aug 14 doi: 10.1016/bs.pmbts.2017.06.010. PMID: 28838665
Ferraz C, Paschke R
Best Pract Res Clin Endocrinol Metab 2017 Mar;31(2):265-275. Epub 2017 Apr 22 doi: 10.1016/j.beem.2017.04.005. PMID: 28648513

Therapy

Day JO, Mullin S
Genes (Basel) 2021 Jun 30;12(7) doi: 10.3390/genes12071006. PMID: 34208795Free PMC Article
Amado DA, Davidson BL
Mol Ther 2021 Dec 1;29(12):3345-3358. Epub 2021 Apr 9 doi: 10.1016/j.ymthe.2021.04.008. PMID: 33839324Free PMC Article
Hermann P, Appleby B, Brandel JP, Caughey B, Collins S, Geschwind MD, Green A, Haïk S, Kovacs GG, Ladogana A, Llorens F, Mead S, Nishida N, Pal S, Parchi P, Pocchiari M, Satoh K, Zanusso G, Zerr I
Lancet Neurol 2021 Mar;20(3):235-246. doi: 10.1016/S1474-4422(20)30477-4. PMID: 33609480Free PMC Article
Feist E, Mitrovic S, Fautrel B
Nat Rev Rheumatol 2018 Oct;14(10):603-618. doi: 10.1038/s41584-018-0081-x. PMID: 30218025Free PMC Article
Blennow K, de Leon MJ, Zetterberg H
Lancet 2006 Jul 29;368(9533):387-403. doi: 10.1016/S0140-6736(06)69113-7. PMID: 16876668

Prognosis

Mima K, Hamada T, Inamura K, Baba H, Ugai T, Ogino S
Gut Microbes 2023 Dec;15(2):2269623. Epub 2023 Oct 30 doi: 10.1080/19490976.2023.2269623. PMID: 37902043Free PMC Article
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
Mauri G, Sartore-Bianchi A, Russo AG, Marsoni S, Bardelli A, Siena S
Mol Oncol 2019 Feb;13(2):109-131. Epub 2018 Dec 22 doi: 10.1002/1878-0261.12417. PMID: 30520562Free PMC Article
Druey KM, Parikh SM
J Allergy Clin Immunol 2017 Sep;140(3):663-670. Epub 2016 Dec 22 doi: 10.1016/j.jaci.2016.10.042. PMID: 28012935Free PMC Article
Brenner H, Kloor M, Pox CP
Lancet 2014 Apr 26;383(9927):1490-1502. Epub 2013 Nov 11 doi: 10.1016/S0140-6736(13)61649-9. PMID: 24225001

Clinical prediction guides

Tang LH
Arch Pathol Lab Med 2020 Jul 1;144(7):816-828. doi: 10.5858/arpa.2019-0654-RA. PMID: 32298138
Matilla-Dueñas A, Corral-Juan M, Rodríguez-Palmero Seuma A, Vilas D, Ispierto L, Morais S, Sequeiros J, Alonso I, Volpini V, Serrano-Munuera C, Pintos-Morell G, Álvarez R, Sánchez I
Adv Exp Med Biol 2017;1031:443-496. doi: 10.1007/978-3-319-67144-4_25. PMID: 29214587
Miller DB, O'Callaghan JP
Metabolism 2015 Mar;64(3 Suppl 1):S40-6. Epub 2014 Oct 31 doi: 10.1016/j.metabol.2014.10.030. PMID: 25510818Free PMC Article
Lejay A, Ohana M, Lee JT, Georg Y, Delay C, Lucereau B, Thaveau F, Gaertner S, Chakfé N; Groupe Européen de Recherche sur les Prothèses Appliquées à la Chirurgie Vasculaire (GEPROVAS)
J Cardiovasc Surg (Torino) 2014 Apr;55(2 Suppl 1):225-37. PMID: 24796917
Wieser HG, Schindler K, Zumsteg D
Clin Neurophysiol 2006 May;117(5):935-51. Epub 2006 Jan 25 doi: 10.1016/j.clinph.2005.12.007. PMID: 16442343

Recent systematic reviews

Lee M, Cha C
Sci Rep 2023 Jul 6;13(1):10971. doi: 10.1038/s41598-023-38169-8. PMID: 37414811Free PMC Article
Uttley L, Carroll C, Wong R, Hilton DA, Stevenson M
Lancet Infect Dis 2020 Jan;20(1):e2-e10. doi: 10.1016/S1473-3099(19)30615-2. PMID: 31876504
Hughes L, Paton B, Rosenblatt B, Gissane C, Patterson SD
Br J Sports Med 2017 Jul;51(13):1003-1011. Epub 2017 Mar 4 doi: 10.1136/bjsports-2016-097071. PMID: 28259850
Baretta Z, Mocellin S, Goldin E, Olopade OI, Huo D
Medicine (Baltimore) 2016 Oct;95(40):e4975. doi: 10.1097/MD.0000000000004975. PMID: 27749552Free PMC Article
Poitras VJ, Gray CE, Borghese MM, Carson V, Chaput JP, Janssen I, Katzmarzyk PT, Pate RR, Connor Gorber S, Kho ME, Sampson M, Tremblay MS
Appl Physiol Nutr Metab 2016 Jun;41(6 Suppl 3):S197-239. doi: 10.1139/apnm-2015-0663. PMID: 27306431

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