Results 31 to 40 of about 43,456 (236)

Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants

Molecular Genetics & Genomic Medicine, 2021
Background Biallelic pathogenic variants in HTRA1 cause CARASIL. More recently, monoallelic variants have been associated with the autosomal dominant disorder CADASIL2 but not all carriers develop disease manifestations. We describe the clinicoradiologic
Karthik Muthusamy, Alejandro Ferrer, Eric W. Klee, Klaas J. Wierenga, Ralitza H. Gavrilova   +4 more
doaj   +1 more source

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): first description of a Russian family with the identified mutation in the Notch3 gene

Анналы клинической и экспериментальной неврологии, 2017
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently described familial form of ischemic stroke caused by mutations in the Notch3 gene on chromosome 19q12.
S. N. Illarioshkin, P. A. Slominsky, M. I. Shadrina, M. V. Partola, D. V. Kandyba, N. M. Zhulev   +5 more
doaj   +1 more source

Case Report: MRI, Clinical, and Pathological Correlates of Bromethalin Toxicosis in Three Dogs

Frontiers in Veterinary Science, 2022
Bromethalin toxicosis is an increasingly common clinical presentation in dogs that may be fatal depending on the extent of intoxication. Antemortem diagnosis of bromethalin toxicosis was achieved in three dogs by demonstration of the active metabolite ...
Vishal D. Murthy, Ehren McLarty, Kevin D. Woolard, Rell L. Parker, Gregg Kortz, Jamie N. King, Robert H. Poppenga, Marguerite F. Knipe, Peter J. Dickinson   +8 more
doaj   +1 more source

Studying the evolution and the magnetic resonance findings of reversible posterior leukoencephalopathy in children Estudo da localização e evolução da leucoencefalopatia posterior reversível em crianças usando ressonância magnética

Arquivos de Neuro-Psiquiatria, 2006
PURPOSE: To describe the evolution and the magnetic resonance imaging (MRI) findings of the reversible posterior leukoencephalopathy (RLPS) in children.
José Roberto Ferraz-Filho, José Alves Rocha-Filho, Tatiana Fantin Bichuette, Regina Celia Ajeje P. de Albuquerque, Rafael Angelo Sanchez, Antonio Soares Souza   +5 more
doaj   +1 more source

Latent Space Analysis of VAE and Intro-VAE applied to 3-dimensional MR Brain Volumes of Multiple Sclerosis, Leukoencephalopathy, and Healthy Patients [PDF]

arXiv, 2021
Multiple Sclerosis (MS) and microvascular leukoencephalopathy are two distinct neurological conditions, the first caused by focal autoimmune inflammation in the central nervous system, the second caused by chronic white matter damage from atherosclerotic microvascular disease.
arxiv  

Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions

Frontiers in Neurology, 2023
Adult-onset leukodystrophies though individually rare are not uncommon. This group includes several disorders with isolated adult presentations, as well as several childhood leukodystrophies with attenuated phenotypes that present at a later age ...
Karthik Muthusamy, Ajith Sivadasan, Luke Dixon, Sniya Sudhakar, Maya Thomas, Sumita Danda, Zbigniew K. Wszolek, Klaas Wierenga, Radhika Dhamija, Ralitza Gavrilova   +9 more
doaj   +1 more source

Drug interactions may be important risk factors for methotrexate neurotoxicity, particularly in pediatric leukemia patients [PDF]

, 2016
Purpose: Methotrexate administration is associated with frequent adverse neurological events during treatment for childhood acute lymphoblastic leukemia.
Baird, Susan F., Forster, Victoria J., Halsey, Christina, Mair, Shona, Skinner, Roderick, van Delft, Frederik W.   +5 more
core   +2 more sources

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. [PDF]

, 2018
PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted ...
Bellet, Jane, Del Gaudio, Daniela, El-Dairi, Mays, Goldstein, David B, Hendon, Laura G, Jasien, Joan, Jiang, Yong-Hui, Jones, Kelly L, Kansagra, Sujay, Keels, Martha Ann, Kranz, Peter G, Lark, Robert K, Leung, Marco L, McConkie-Rosell, Allyn, Nagaraj, Shashi K, Noel, Richard, Parker, Collette C, Pena, Loren DM, Rapisardo Horn, Sarah, Schoch, Kelly, Shashi, Vandana, Smith, Edward C, Spillmann, Rebecca C, Stong, Nicholas, Sullivan, Jennifer A, Undiagnosed Diseases Network Members, Walley, Nicole, Wechsler, Daniel SG   +27 more
core   +1 more source

Natalizumab affects T-cell phenotype in multiple sclerosis: implications for JCV reactivation [PDF]

, 2016
The anti-CD49d monoclonal antibody natalizumab is currently an effective therapy against the relapsing-remitting form of multiple sclerosis (RRMS). Natalizumab therapeutic efficacy is limited by the reactivation of the John Cunningham polyomavirus (JCV ...
A Bellizzi, A Laroni, A Petrovic, Ada Francia, Alessandra D’Abramo, Alessandra Oliva, Anna Bellizzi, B Engelhardt, BL Padgett, C Bozic, C Tornatore, Claudia D’Agostino, Claudio Maria Mastroianni, D Jing, E Pucci, Elena Anzivino, EM Frohman, EM Johnson, Enrico Millefiorini, EO Major, EO Major, F Serana, F Taguchi, G Defer, H Bonig, K Khalili, L Börnsen, L Gorelik, LJ Marshall, M Niino, Manuela Morreale, Marco Iannetta, Maria Antonella Zingaropoli, Maria Rosa Ciardi, MC Monaco, ME Hemler, P Maenetje, RA Rudick, RM Ransohoff, Robert Shin Fujinami, RR Lobb, S Beltrami, SA Houff, SA Sadiq, Sara Lo Menzo, Simona Pontecorvo, T Van Loy, Valeria Pietropaolo, Vincenzo Vullo, WJ Atwood, Y Chen, Ö Yaldizli   +51 more
core   +3 more sources

Clinical and Radiological Characterization of Progressive Multifocal Leukoencephalopathy in HIV-Infected Patients: A Retrospective Analysis and Review of the Literature

Acta Médica Portuguesa, 2015
Introduction: Progressive multifocal leukoencephalopathy is a demyelinating disease of the central nervous system caused by John Cunningham virus, mostly associated with immunodeficiency conditions, such as the human immunodeficiency virus infection ...
Luís Augusto, Nélia Neves, Carina Reis, Cândida Abreu, António Sarmento   +4 more
doaj   +1 more source