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Classic or non-classic genetic disease presentation

MedGen UID:
986589
•Concept ID:
CN305513
•
Disease or Syndrome
Synonym: classic or non-classic genetic disease presentation
 
Monarch Initiative: MONDO:0100355

Definition

A classic (severe) or non-classic (mild or intermediate) form of a genetic disease. [from MONDO]

Professional guidelines

PubMed

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.
Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524Free PMC Article
Diagnosis, Treatment, and Long-Term Management of Kawasaki Disease: A Scientific Statement for Health Professionals From the American Heart Association.
McCrindle BW, Rowley AH, Newburger JW, Burns JC, Bolger AF, Gewitz M, Baker AL, Jackson MA, Takahashi M, Shah PB, Kobayashi T, Wu MH, Saji TT, Pahl E; American Heart Association Rheumatic Fever, Endocarditis, and Kawasaki Disease Committee of the Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; Council on Cardiovascular Surgery and Anesthesia; and Council on Epidemiology and Prevention
Circulation 2017 Apr 25;135(17):e927-e999. Epub 2017 Mar 29 doi: 10.1161/CIR.0000000000000484. PMID: 28356445
Hashimoto thyroiditis: clinical and diagnostic criteria.
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

EORTC/MSGERC Definitions of Invasive Fungal Diseases: Summary of Activities of the Intensive Care Unit Working Group.
Bassetti M, Azoulay E, Kullberg BJ, Ruhnke M, Shoham S, Vazquez J, Giacobbe DR, Calandra T
Clin Infect Dis 2021 Mar 12;72(Suppl 2):S121-S127. doi: 10.1093/cid/ciaa1751. PMID: 33709127
Combined hepatocellular-cholangiocarcinoma: An update.
Beaufrère A, Calderaro J, Paradis V
J Hepatol 2021 May;74(5):1212-1224. Epub 2021 Feb 3 doi: 10.1016/j.jhep.2021.01.035. PMID: 33545267
Nonclassic Congenital Adrenal Hyperplasia: What Do Endocrinologists Need to Know?
Jha S, Turcu AF
Endocrinol Metab Clin North Am 2021 Mar;50(1):151-165. Epub 2021 Jan 9 doi: 10.1016/j.ecl.2020.10.008. PMID: 33518183Free PMC Article
Mid-trimester preterm premature rupture of membranes (PPROM): etiology, diagnosis, classification, international recommendations of treatment options and outcome.
Tchirikov M, Schlabritz-Loutsevitch N, Maher J, Buchmann J, Naberezhnev Y, Winarno AS, Seliger G
J Perinat Med 2018 Jul 26;46(5):465-488. doi: 10.1515/jpm-2017-0027. PMID: 28710882
Congenital adrenal hyperplasia.
El-Maouche D, Arlt W, Merke DP
Lancet 2017 Nov 11;390(10108):2194-2210. Epub 2017 May 30 doi: 10.1016/S0140-6736(17)31431-9. PMID: 28576284

Diagnosis

EORTC/MSGERC Definitions of Invasive Fungal Diseases: Summary of Activities of the Intensive Care Unit Working Group.
Bassetti M, Azoulay E, Kullberg BJ, Ruhnke M, Shoham S, Vazquez J, Giacobbe DR, Calandra T
Clin Infect Dis 2021 Mar 12;72(Suppl 2):S121-S127. doi: 10.1093/cid/ciaa1751. PMID: 33709127
Endometriosis is a chronic systemic disease: clinical challenges and novel innovations.
Taylor HS, Kotlyar AM, Flores VA
Lancet 2021 Feb 27;397(10276):839-852. doi: 10.1016/S0140-6736(21)00389-5. PMID: 33640070
Nonclassic Congenital Adrenal Hyperplasia: What Do Endocrinologists Need to Know?
Jha S, Turcu AF
Endocrinol Metab Clin North Am 2021 Mar;50(1):151-165. Epub 2021 Jan 9 doi: 10.1016/j.ecl.2020.10.008. PMID: 33518183Free PMC Article
Infantile-onset Pompe disease: Diagnosis and management.
Bay LB, Denzler I, Durand C, Eiroa H, Frabasil J, Fainboim A, Maxit C, Schenone A, Spécola N
Arch Argent Pediatr 2019 Aug 1;117(4):271-278. doi: 10.5546/aap.2019.eng.271. PMID: 31339275
Congenital adrenal hyperplasia.
El-Maouche D, Arlt W, Merke DP
Lancet 2017 Nov 11;390(10108):2194-2210. Epub 2017 May 30 doi: 10.1016/S0140-6736(17)31431-9. PMID: 28576284

Therapy

The Story of ECMO.
Bartlett RH
Anesthesiology 2024 Mar 1;140(3):578-584. doi: 10.1097/ALN.0000000000004843. PMID: 38349754
A comprehensive review of dermatomyositis treatments - from rediscovered classics to promising horizons.
Sevim E, Kobrin D, Casal-Dominguez M, Pinal-Fernandez I
Expert Rev Clin Immunol 2024 Feb;20(2):197-209. Epub 2024 Jan 21 doi: 10.1080/1744666X.2023.2270737. PMID: 37842905
Challenges in treatment of patients with non-classic congenital adrenal hyperplasia.
Adriaansen BPH, Schröder MAM, Span PN, Sweep FCGJ, van Herwaarden AE, Claahsen-van der Grinten HL
Front Endocrinol (Lausanne) 2022;13:1064024. Epub 2022 Dec 12 doi: 10.3389/fendo.2022.1064024. PMID: 36578966Free PMC Article
Congenital adrenal hyperplasia.
El-Maouche D, Arlt W, Merke DP
Lancet 2017 Nov 11;390(10108):2194-2210. Epub 2017 May 30 doi: 10.1016/S0140-6736(17)31431-9. PMID: 28576284
N-acetylcysteine as powerful molecule to destroy bacterial biofilms. A systematic review.
Dinicola S, De Grazia S, Carlomagno G, Pintucci JP
Eur Rev Med Pharmacol Sci 2014 Oct;18(19):2942-8. PMID: 25339490

Prognosis

Individual Patient Data Meta-Analysis of the Value of Microsatellite Instability As a Biomarker in Gastric Cancer.
Pietrantonio F, Miceli R, Raimondi A, Kim YW, Kang WK, Langley RE, Choi YY, Kim KM, Nankivell MG, Morano F, Wotherspoon A, Valeri N, Kook MC, An JY, Grabsch HI, Fucà G, Noh SH, Sohn TS, Kim S, Di Bartolomeo M, Cunningham D, Lee J, Cheong JH, Smyth EC
J Clin Oncol 2019 Dec 10;37(35):3392-3400. Epub 2019 Sep 12 doi: 10.1200/JCO.19.01124. PMID: 31513484
Autoimmunity in uveitis.
Ten Berge JC, Schreurs MWJ, van Daele PLA, Rothova A
Acta Ophthalmol 2018 Aug;96(5):481-485. Epub 2018 Jan 25 doi: 10.1111/aos.13652. PMID: 29369534
Subarachnoid Hemorrhage: Updates in Diagnosis and Management.
Long B, Koyfman A, Runyon MS
Emerg Med Clin North Am 2017 Nov;35(4):803-824. Epub 2017 Aug 24 doi: 10.1016/j.emc.2017.07.001. PMID: 28987430
Congenital adrenal hyperplasia.
El-Maouche D, Arlt W, Merke DP
Lancet 2017 Nov 11;390(10108):2194-2210. Epub 2017 May 30 doi: 10.1016/S0140-6736(17)31431-9. PMID: 28576284
Refining clinical risk stratification for predicting stroke and thromboembolism in atrial fibrillation using a novel risk factor-based approach: the euro heart survey on atrial fibrillation.
Lip GY, Nieuwlaat R, Pisters R, Lane DA, Crijns HJ
Chest 2010 Feb;137(2):263-72. Epub 2009 Sep 17 doi: 10.1378/chest.09-1584. PMID: 19762550

Clinical prediction guides

Ringlike late gadolinium enhancement provides incremental prognostic value in non-classical arrhythmogenic cardiomyopathy.
Yang Y, Wei X, Lu G, Xie J, Tan Z, Du Z, Ye W, Xu H, Li X, Liu E, Zhang Q, Liu Y, Li J, Liu H
J Cardiovasc Magn Reson 2023 Nov 30;25(1):72. doi: 10.1186/s12968-023-00986-1. PMID: 38031154Free PMC Article
Adnexal Lesion Imaging: Past, Present, and Future.
Sadowski EA, Rockall A, Thomassin-Naggara I, Barroilhet LM, Wallace SK, Jha P, Gupta A, Shinagare AB, Guo Y, Reinhold C
Radiology 2023 Jun;307(5):e223281. Epub 2023 May 9 doi: 10.1148/radiol.223281. PMID: 37158725
Ultrasound and its clinical use in rheumatoid arthritis: where do we stand?
do Prado AD, Staub HL, Bisi MC, da Silveira IG, Mendonça JA, Polido-Pereira J, Fonseca JE
Adv Rheumatol 2018 Aug 2;58(1):19. doi: 10.1186/s42358-018-0023-y. PMID: 30657086
Biomarkers of glioblastoma multiforme.
Nicolaidis S
Metabolism 2015 Mar;64(3 Suppl 1):S22-7. Epub 2014 Oct 30 doi: 10.1016/j.metabol.2014.10.031. PMID: 25468141
Burning mouth syndrome.
Gurvits GE, Tan A
World J Gastroenterol 2013 Feb 7;19(5):665-72. doi: 10.3748/wjg.v19.i5.665. PMID: 23429751Free PMC Article

Recent systematic reviews

Indications for zygomatic implants: a systematic review.
Polido WD, Machado-Fernandez A, Lin WS, Aghaloo T
Int J Implant Dent 2023 Jul 1;9(1):17. doi: 10.1186/s40729-023-00480-4. PMID: 37391575Free PMC Article
Understanding bacterial biofilms: From definition to treatment strategies.
Zhao A, Sun J, Liu Y
Front Cell Infect Microbiol 2023;13:1137947. Epub 2023 Apr 6 doi: 10.3389/fcimb.2023.1137947. PMID: 37091673Free PMC Article
Guillain-​Barré Syndrome Associated with COVID-19 Vaccination.
Shao SC, Wang CH, Chang KC, Hung MJ, Chen HY, Liao SC
Emerg Infect Dis 2021 Dec;27(12):3175-3178. Epub 2021 Oct 14 doi: 10.3201/eid2712.211634. PMID: 34648420Free PMC Article
Perioral dermatitis: Diagnosis, proposed etiologies, and management.
Searle T, Ali FR, Al-Niaimi F
J Cosmet Dermatol 2021 Dec;20(12):3839-3848. Epub 2021 Mar 16 doi: 10.1111/jocd.14060. PMID: 33751778
Long-term effects of psychedelic drugs: A systematic review.
Aday JS, Mitzkovitz CM, Bloesch EK, Davoli CC, Davis AK
Neurosci Biobehav Rev 2020 Jun;113:179-189. Epub 2020 Mar 16 doi: 10.1016/j.neubiorev.2020.03.017. PMID: 32194129

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