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Genetic systemic or rheumatologic disease

MedGen UID:
1843128
•Concept ID:
C5680758
•
Disease or Syndrome
Synonym: Rare genetic systemic or rheumatologic disease
 
Orphanet: ORPHA271870

Professional guidelines

PubMed

The 2023 ACR/EULAR Antiphospholipid Syndrome Classification Criteria.
Barbhaiya M, Zuily S, Naden R, Hendry A, Manneville F, Amigo MC, Amoura Z, Andrade D, Andreoli L, Artim-Esen B, Atsumi T, Avcin T, Belmont HM, Bertolaccini ML, Branch DW, Carvalheiras G, Casini A, Cervera R, Cohen H, Costedoat-Chalumeau N, Crowther M, de Jesus G, Delluc A, Desai S, De Sancho M, Devreese KM, Diz-Kucukkaya R, Duarte-Garcia A, Frances C, Garcia D, Gris JC, Jordan N, Leaf RK, Kello N, Knight JS, Laskin C, Lee AI, Legault K, Levine SR, Levy RA, Limper M, Lockshin MD, Mayer-Pickel K, Musial J, Meroni PL, Orsolini G, Ortel TL, Pengo V, Petri M, Pons-Estel G, Gomez-Puerta JA, Raimboug Q, Roubey R, Sanna G, Seshan SV, Sciascia S, Tektonidou MG, Tincani A, Wahl D, Willis R, Yelnik C, Zuily C, Guillemin F, Costenbader K, Erkan D; ACR/EULAR APS Classification Criteria Collaborators
Arthritis Rheumatol 2023 Oct;75(10):1687-1702. Epub 2023 Aug 28 doi: 10.1002/art.42624. PMID: 37635643
Restless Legs Syndrome: Contemporary Diagnosis and Treatment.
Gossard TR, Trotti LM, Videnovic A, St Louis EK
Neurotherapeutics 2021 Jan;18(1):140-155. Epub 2021 Apr 20 doi: 10.1007/s13311-021-01019-4. PMID: 33880737Free PMC Article
Diagnosis and Treatment of Metastatic Colorectal Cancer: A Review.
Biller LH, Schrag D
JAMA 2021 Feb 16;325(7):669-685. doi: 10.1001/jama.2021.0106. PMID: 33591350

Recent clinical studies

Etiology

How to Build a Fire: The Genetics of Autoinflammatory Diseases.
Zhang J, Lee PY, Aksentijevich I, Zhou Q
Annu Rev Genet 2023 Nov 27;57:245-274. Epub 2023 Aug 10 doi: 10.1146/annurev-genet-030123-084224. PMID: 37562411
Environmental Risks for Spondyloarthropathies.
Farran Y, Reveille J, Hwang M
Rheum Dis Clin North Am 2022 Nov;48(4):813-826. doi: 10.1016/j.rdc.2022.06.004. PMID: 36332997
Polyautoimmunity in rheumatological conditions.
Matusiewicz A, Stróżyńska-Byrska J, Olesińska M
Int J Rheum Dis 2019 Mar;22(3):386-391. Epub 2018 Dec 11 doi: 10.1111/1756-185X.13454. PMID: 30548416
Axenfeld-Rieger syndrome.
Seifi M, Walter MA
Clin Genet 2018 Jun;93(6):1123-1130. Epub 2018 Jan 25 doi: 10.1111/cge.13148. PMID: 28972279
Induced protein degradation: an emerging drug discovery paradigm.
Lai AC, Crews CM
Nat Rev Drug Discov 2017 Feb;16(2):101-114. Epub 2016 Nov 25 doi: 10.1038/nrd.2016.211. PMID: 27885283Free PMC Article

Diagnosis

Molecular Pathology of Prostate Cancer.
Kulac I, Roudier MP, Haffner MC
Surg Pathol Clin 2021 Sep;14(3):387-401. Epub 2021 Jul 8 doi: 10.1016/j.path.2021.05.004. PMID: 34373091
Neuroimaging findings in rheumatologic disorders.
Kandemirli SG, Bathla G
J Neurol Sci 2021 Aug 15;427:117531. Epub 2021 Jun 11 doi: 10.1016/j.jns.2021.117531. PMID: 34130065
Systemic amyloidosis from A (AA) to T (ATTR): a review.
Muchtar E, Dispenzieri A, Magen H, Grogan M, Mauermann M, McPhail ED, Kurtin PJ, Leung N, Buadi FK, Dingli D, Kumar SK, Gertz MA
J Intern Med 2021 Mar;289(3):268-292. Epub 2020 Sep 14 doi: 10.1111/joim.13169. PMID: 32929754
Polyautoimmunity in rheumatological conditions.
Matusiewicz A, Stróżyńska-Byrska J, Olesińska M
Int J Rheum Dis 2019 Mar;22(3):386-391. Epub 2018 Dec 11 doi: 10.1111/1756-185X.13454. PMID: 30548416
Axenfeld-Rieger syndrome.
Seifi M, Walter MA
Clin Genet 2018 Jun;93(6):1123-1130. Epub 2018 Jan 25 doi: 10.1111/cge.13148. PMID: 28972279

Therapy

Optimizing Informed Consent in Cancer Clinical Trials.
Perni S, Jimenez R, Jagsi R
Semin Radiat Oncol 2023 Oct;33(4):349-357. doi: 10.1016/j.semradonc.2023.06.001. PMID: 37684064
Type I interferon in rheumatic diseases.
Muskardin TLW, Niewold TB
Nat Rev Rheumatol 2018 Mar 21;14(4):214-228. doi: 10.1038/nrrheum.2018.31. PMID: 29559718Free PMC Article
Systemic lupus erythematosus.
Furie R, Cervera R
Best Pract Res Clin Rheumatol 2017 Jun;31(3):289-290. Epub 2017 Nov 2 doi: 10.1016/j.berh.2017.10.005. PMID: 29224671
The progress of immunotherapy for glioblastoma.
Zhou Q, Wang Y, Ma W
Hum Vaccin Immunother 2015;11(11):2654-8. doi: 10.1080/21645515.2015.1081727. PMID: 26308501Free PMC Article
Pharmacokinetics and pharmacodynamics of systemically administered glucocorticoids.
Czock D, Keller F, Rasche FM, Häussler U
Clin Pharmacokinet 2005;44(1):61-98. doi: 10.2165/00003088-200544010-00003. PMID: 15634032

Prognosis

Epidemiology of rheumatoid arthritis: genetic and environmental influences.
Venetsanopoulou AI, Alamanos Y, Voulgari PV, Drosos AA
Expert Rev Clin Immunol 2022 Sep;18(9):923-931. Epub 2022 Jul 29 doi: 10.1080/1744666X.2022.2106970. PMID: 35904251
Breast cancer in the era of precision medicine.
Sarhangi N, Hajjari S, Heydari SF, Ganjizadeh M, Rouhollah F, Hasanzad M
Mol Biol Rep 2022 Oct;49(10):10023-10037. Epub 2022 Jun 22 doi: 10.1007/s11033-022-07571-2. PMID: 35733061
Systemic amyloidosis from A (AA) to T (ATTR): a review.
Muchtar E, Dispenzieri A, Magen H, Grogan M, Mauermann M, McPhail ED, Kurtin PJ, Leung N, Buadi FK, Dingli D, Kumar SK, Gertz MA
J Intern Med 2021 Mar;289(3):268-292. Epub 2020 Sep 14 doi: 10.1111/joim.13169. PMID: 32929754
Polyautoimmunity in rheumatological conditions.
Matusiewicz A, Stróżyńska-Byrska J, Olesińska M
Int J Rheum Dis 2019 Mar;22(3):386-391. Epub 2018 Dec 11 doi: 10.1111/1756-185X.13454. PMID: 30548416
Measuring and modeling interventions in aging.
Stroustrup N
Curr Opin Cell Biol 2018 Dec;55:129-138. Epub 2018 Aug 10 doi: 10.1016/j.ceb.2018.07.004. PMID: 30099284Free PMC Article

Clinical prediction guides

Heterogeneity of Treatment Response to Asthma.
Maeda T, Khurana S
Adv Exp Med Biol 2023;1426:143-161. doi: 10.1007/978-3-031-32259-4_7. PMID: 37464120
Breast cancer in the era of precision medicine.
Sarhangi N, Hajjari S, Heydari SF, Ganjizadeh M, Rouhollah F, Hasanzad M
Mol Biol Rep 2022 Oct;49(10):10023-10037. Epub 2022 Jun 22 doi: 10.1007/s11033-022-07571-2. PMID: 35733061
Systemic amyloidosis from A (AA) to T (ATTR): a review.
Muchtar E, Dispenzieri A, Magen H, Grogan M, Mauermann M, McPhail ED, Kurtin PJ, Leung N, Buadi FK, Dingli D, Kumar SK, Gertz MA
J Intern Med 2021 Mar;289(3):268-292. Epub 2020 Sep 14 doi: 10.1111/joim.13169. PMID: 32929754
Salivary Biomarkers in Systemic Sclerosis Disease.
Zian Z, Bakkach J, Barakat A, Ghailani Nourouti N, Bennani Mechita M
Biomed Res Int 2018;2018:3921247. Epub 2018 Mar 12 doi: 10.1155/2018/3921247. PMID: 29721505Free PMC Article
The skin in psoriasis: assessment and challenges.
Oji V, Luger TA
Clin Exp Rheumatol 2015 Sep-Oct;33(5 Suppl 93):S14-9. Epub 2015 Oct 15 PMID: 26472560

Recent systematic reviews

Palmoplantar Pustulosis: Therapy Update.
Devjani S, Smith B, Javadi SS, Engel PV, Han G, Wu JJ
J Drugs Dermatol 2024 Aug 1;23(8):626-631. doi: 10.36849/JDD.7612. PMID: 39093642
LSD1 in drug discovery: From biological function to clinical application.
Liu HM, Zhou Y, Chen HX, Wu JW, Ji SK, Shen L, Wang SP, Liu HM, Liu Y, Dai XJ, Zheng YC
Med Res Rev 2024 Mar;44(2):833-866. Epub 2023 Nov 28 doi: 10.1002/med.22000. PMID: 38014919
Dengue overview: An updated systemic review.
Khan MB, Yang ZS, Lin CY, Hsu MC, Urbina AN, Assavalapsakul W, Wang WH, Chen YH, Wang SF
J Infect Public Health 2023 Oct;16(10):1625-1642. Epub 2023 Aug 3 doi: 10.1016/j.jiph.2023.08.001. PMID: 37595484
Bone Marrow Edema: pathogenetic features.
Molfetta L, Florian A, Saviola G, Frediani B
Clin Ter 2022 Sep-Oct;173(5):434-439. doi: 10.7417/CT.2022.2459. PMID: 36155729
Primary Localized Cutaneous Amyloidosis: A Systematic Treatment Review.
Weidner T, Illing T, Elsner P
Am J Clin Dermatol 2017 Oct;18(5):629-642. doi: 10.1007/s40257-017-0278-9. PMID: 28342017

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