Artículos por temáticas

Creutzfeldt-Jakob disease: A case report

Butt FR, Dhivagaran T, Naqvi S.

Radiol Case Rep. 2024 Nov 29;20(2):1095-1098. doi: 10.1016/j.radcr.2024.11.011. eCollection 2025 Feb.

Sialidosis type 1 in a Turkish family: a case report and review of literatures

Kılıç M, İcil S, Sezer A, Kaya-Güneş Ö, Comoğlu SS.

J Pediatr Endocrinol Metab. 2024 Dec 30;38(2):176-186. doi: 10.1515/jpem-2024-0468. Print 2025 Feb 25.

Unusual co-occurrence of hypertrophic inferior olivary degeneration with infratentorial cavernomatosis and orbital cavernous hemangioma

Houssni JE, Ridah SM, Jellal S, Edderai M, Nouali HE, Fenni JE, Salaheddine T.

Radiol Case Rep. 2024 Oct 25;20(1):292-296. doi: 10.1016/j.radcr.2024.10.097. eCollection 2025 Jan.

Lafora Disease Presenting with Ataxia and DM1: A Case Study

Khanalizadeh R, Karimi K.

Acta Neurol Taiwan. 2024 Dec 30;33(4):181-183.

Adalimumab-induced myoclonus: A potential adverse drug reaction?

Mahjoubi YS, Dahmani I, Zgolli F, Kaabi W, Kastalli S, Aouintin I, El Aidli S.

Therapie. 2024 Dec 17:S0040-5957(24)00214-2. doi: 10.1016/j.therap.2024.12.006. Online ahead of print.

Generalized Epileptic Seizures in Fibrodysplasia Ossificans Progressiva Harboring a Recurrent Heterozygous Variant of the ACVR1 Gene (R206H)

Mishima K, Kitoh H, Shiraki A, Sawamura K, Kamiya Y, Matsushita M, Imagama S.

Case Rep Genet. 2024 Dec 17;2024:9569275. doi: 10.1155/crig/9569275. eCollection 2024.

Comparison of efficacy and safety of etomidate with other anesthesia induction drugs for patients undergoing cardiac surgery: A systematic review and meta-analysis of randomized controlled trials

Xia Z, Kamra K, Dong J, Harp KA, Xiong Y, Lisco SJ, Zucker IH, Wang HJ.

Heliyon. 2024 Sep 21;10(22):e38274. doi: 10.1016/j.heliyon.2024.e38274. eCollection 2024 Nov 30.

The Use of Perampanel in the Treatment of Lance-Adams Syndrome

Pandya V, Husari KS.

J Epilepsy Res. 2024 Dec 10;14(2):97-101. doi: 10.14581/jer.24016. eCollection 2024 Dec.

Diagnostic Utility of Clinical Neurophysiology in Jerky Movement Disorders: A Review from the MDS Clinical Neurophysiology Study Group

Latorre A, Ganos C, Hamada M, Phielipp N, Rocchi L, Merchant S, Tijssen MA, van der Veen S, Chen R.

Mov Disord Clin Pract. 2024 Dec 18. doi: 10.1002/mdc3.14306. Online ahead of print.

Sodium Oxybate-Treated Familial Myoclonus-Dystonia Syndrome Due to Novel SGCE Variant

Alghamdi MA, Hamad MH, Alghamdi I, Alghamdi G, Al-Jelaify M, Alshimemeri S, Hamed H, Adly N, Salih MA, Almontashiri NA, Bashiri FA.

Am J Med Genet A. 2024 Dec 20:e63964. doi: 10.1002/ajmg.a.63964. Online ahead of print.

Varicella zoster infection-associated progressive encephalomyelitis with rigidity and myoclonus in a 6-month follow-up

Wiederkehr I, Hor H, Wiederkehr M, Bachli E.

BMJ Case Rep. 2024 Dec 24;17(12):e262431. doi: 10.1136/bcr-2024-262431.

Spectrum and Evolution of Movement Disorder Phenomenology in a Pediatric Powassan Encephalitis Case Series

Yang K, Lindsay R, Quiroz V, Srouji R, Ebrahimi-Fakhari D.

Mov Disord Clin Pract. 2024 Dec;11(12):1613-1619. doi: 10.1002/mdc3.14245. Epub 2024 Oct 22.

Compound Heterozygous WARS2 Variants Including a Hypomorphic Allele Cause a Milder Phenotype of Complex Dopa Responsive Dystonia: Case Report and Review of the Literature

Schneider V, Dupont G, Madinier G, Ramond F, Lesca G, Thauvin-Robinet C, Thomas Q.

Cerebellum. 2024 Dec;23(6):2616-2621. doi: 10.1007/s12311-024-01725-7. Epub 2024 Jul 29.

Effect of Pretreatment with a Small Dose of Esketamine on Myoclonus Induced by Etomidate: A Randomized Controlled Trial

Gao L, Lu X, Tan A, Liufu J, Xu Y, Wei L.

Drug Des Devel Ther. 2024 Dec 7;18:5773-5779. doi: 10.2147/DDDT.S495130. eCollection 2024.

The Application and Pharmaceutical Development of Etomidate: Challenges and Strategies

Zhang H, Wu A, Nan X, Yang L, Zhang D, Zhang Z, Liu H.

Mol Pharm. 2024 Dec 2;21(12):5989-6006. doi: 10.1021/acs.molpharmaceut.4c00325. Epub 2024 Nov 4.