Artículos por temáticas

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.

First case report on Bickerstaff brainstem encephalitis in a young adult from Syria: Bridging clinical knowledge and practice

Almohamed A, Qatza A, Alsamman H, Hamsho S, Atia M, Tamer R, Ali AM, Kazkz W.

Radiol Case Rep. 2024 Dec 3;20(2):1211-1214. doi: 10.1016/j.radcr.2024.11.006. eCollection 2025 Feb.

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.

MRI diagnosis of a juvenile leukoencephalopathy with vanishing white matter: A rare case report from Morocco and literature review

Ziani C, Ziani H, Oukrid K, Nasri S, Kamaoui I, Skiker I.

Radiol Case Rep. 2024 Nov 14;20(1):767-771. doi: 10.1016/j.radcr.2024.10.085. eCollection 2025 Jan.

Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation

Eskin-Schwartz M, Seraidy S, Paz E, Molhem M, Ranza E, Antonarakis SE, Blanc X, Herman K, Benko WS, Libzon S, Ben Sira L, Fattal-Valevski A, Dolgin V, Birk OS, Kessel A, Bross P, Weiss C, Azem A, Zere

J Med Genet. 2024 Dec 31;62(1):15-24. doi: 10.1136/jmg-2024-109862.

Effects of genetic variants of organic cation transporters on metformin response in newly diagnosed patients with type 2 diabetes

AlKreathy HM, Alzahrani AA, Esmat A, Damanhouri ZA.

Medicine (Baltimore). 2024 Nov 29;103(48):e40684. doi: 10.1097/MD.0000000000040684.

Intramedullary schwannoma of conus medullaris with syringomyelia: a case report and literature review

Guo H, Wang Y, Wang L, Han D, Meng X, Mu Q, Chen X.

Front Oncol. 2024 Dec 2;14:1422958. doi: 10.3389/fonc.2024.1422958. eCollection 2024.

Bilateral Middle Cerebellar Peduncle Infarction Presenting With Vertigo and Hearing Impairment Mimicking Peripheral Vestibulopathy

Ramli NA, Abdul Halim S, Aziz ME.

Cureus. 2024 Dec 12;16(12):e75623. doi: 10.7759/cureus.75623. eCollection 2024 Dec.

EVIDENCE FOR ADRENAL DYSFUNCTION CONTRIBUTING TO PERACUTE MORTALITY SYNDROME IN RED PANDA (AILURUS FULGENS)

Kane LP, Aitken-Palmer C, Parkinson L, Kuzma CA, Colegrove KM, Delaney MA.

J Zoo Wildl Med. 2024 Dec;55(4):1104-1113. doi: 10.1638/2023-0029.

Case report: Treatment of non-medical tetrahydrocannabinol toxicosis with transmucosal cannabidiol-infused dissolving sheets in six dogs

Marsigliano K, Green K, DiGangi BA.

Front Vet Sci. 2024 Dec 9;11:1448123. doi: 10.3389/fvets.2024.1448123. eCollection 2024.

Insights into Dentatorubral-Pallidoluysian Atrophy from a new Drosophila model of disease

Prifti MV, Nuga O, Dulay RO, Patel NC, Kula T, Libohova K, Jackson-Butler A, Tsou WL, Richardson K, Todi SV.

bioRxiv [Preprint]. 2024 Dec 10:2024.12.05.627083. doi: 10.1101/2024.12.05.627083.

Correction: Bright middle cerebellar peduncle sign in multiple system atrophy with predominant cerebellar ataxia is more apparent in double-inversion recovery imaging than in conventional imaging

Shiraishi W, Matsuyoshi A, Nakazawa Y, Inamori Y, Yogi A, Hashimoto T.

PLoS One. 2024 Dec 2;19(12):e0315022. doi: 10.1371/journal.pone.0315022. eCollection 2024.

Case report: Giant meningioma of the left hemisphere

Cui J, Sun H, Sun S, Zhao H, Gu Y.

Front Oncol. 2024 Dec 6;14:1506297. doi: 10.3389/fonc.2024.1506297. eCollection 2024.

A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia

Holling T, Abdelrazek IM, Elhady GM, Abd Elmaksoud M, Ryu SW, Abdalla E, Kutsche K.

J Hum Genet. 2024 Dec;69(12):623-628. doi: 10.1038/s10038-024-01279-w. Epub 2024 Jul 31.

The volume of the subthalamic nucleus in spinocerebellar ataxia type 3: potential relevance for the clinical phenotype and treatment of parkinsonian symptoms with deep brain stimulation

Minnerop M, Pieperhoff P, Elben S, Hartmann CJ, Müttel T, Kahlen U, Wüllner U, Klockgether T, Wojtecki L, Caspers S, Amunts K, Vesper J, Schnitzler A, Groiss SJ.

J Neurol. 2024 Dec 12;272(1):16. doi: 10.1007/s00415-024-12792-5.