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| http://dx.doi.org/10.4103/aian.aian_471_22 | DOI Listing |
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Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia as a Presentation of a Novel DNMT1 Mutation.
Cerebellum
January 2025
Department of Neurology, Division of Neuro-Visual & Vestibular Disorders, The Johns Hopkins University School of Medicine, Johns Hopkins Hospital, 600 N. Wolfe Street, Baltimore, MD, USA.
A 50-year-old woman with a 20-year history of gait instability presented with new-onset vertigo and oscillopsia. Examination revealed bilateral vestibular loss, cerebellar ataxia, sensory neuropathy, a "yes-yes" head tremor, nystagmus and a family history of a similar syndrome. Genetic testing for cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (RFC1) was negative, but whole exome sequencing identified a novel mutation in the DNA methyltransferase 1 (DNMT1) gene, broadening the differential diagnosis for this phenotype.
View Article and Find Full Text PDFAssociation between the onset of diabetic retinopathy and thickness changes in the retina and choroid of children with type 1 diabetes: A three-year longitudinal study.
Ophthalmic Physiol Opt
January 2025
Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Purpose: To explore the longitudinal changes in retinal and choroidal thickness and their relation with the onset of type 1 diabetes mellitus (T1DM) in children.
Methods: Thirty-eight children with T1DM and 71 healthy controls were included in this 3-year longitudinal study. Ophthalmic and systemic examinations were conducted on each participant.
Exploring Relevant Features for EEG-Based Investigation of Sound Perception in Naturalistic Soundscapes.
eNeuro
January 2025
Neurophysiology of Everyday Life Group, Department of Psychology, Carl von Ossietzky Universität Oldenburg, Oldenburg, Germany
A comprehensive analysis of everyday sound perception can be achieved using Electroencephalography (EEG) with the concurrent acquisition of information about the environment. While extensive research has been dedicated to speech perception, the complexities of auditory perception within everyday environments, specifically the types of information and the key features to extract, remain less explored. Our study aims to systematically investigate the relevance of different feature categories: discrete sound-identity markers, general cognitive state information, and acoustic representations, including discrete sound onset, the envelope, and mel-spectrogram.
View Article and Find Full Text PDFEfficiency of telerehabilitation on subacute stroke ambulation: a matched case-control study.
Brain Impair
January 2025
Department of Research and Innovation, Institut Guttmann - Hospital de Neurorehabilitació, Institut Universitari de Neurorehabilitació adscrit a la UAB, Cami Can Ruti s/n, 08916, Badalona, Barcelona, Spain; and Universitat Autònoma de Barcelona, Bellaterra (Cerdanyola del Vallès), Spain; and Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Badalona, Barcelona, Spain.
Article Synopsis
- Stroke rehabilitation is increasingly needed worldwide, but there's limited evidence comparing telerehabilitation to in-person care.
- A study found that patients with stroke who participated in telerehabilitation showed greater improvements in functional ambulation compared to those who received in-person rehabilitation.
- Despite similar ambulation efficiency between the groups, telerehabilitation emerged as a promising alternative for individuals with moderate stroke severity, especially for those living with a partner at home.
Basic Science and Pathogenesis.
Alzheimers Dement
December 2024
University of California Irvine, Irvine, CA, USA.
Background: Anti- Aβ monoclonal antibodies are the first FDA-approved treatments for AD that slow cognitive decline and lower Aβ plaques. Our goal is to identify the epitope specificities of antibodies in human blood that are associated with AD and NC and determine the predicted protein targets of these antibodies.
Method: 101 AD (MMSE < 27) and 98 NC (MMSE > 27) serum samples were obtained from the UCI tissue repository.
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