In order to evaluate the CNS-function of uremic patients, the magnetic activity emitted from the brain of 20 pts (10 pts on CAPD and 10 on HD) was measured. MEG consisted of taking 32 consecutive records from the 32 equally spaced points chosen on the skull in uremic pts around our reference points T3, T4, P4, F3, F4 of the international 10-20 electrode placement point system. MEG data were converted using an AD-converter with sampling frequency 256 Hz and stored in a P/C. Our results showed significant differences between the two groups. In all HD pts there was abnormal magnetic brain activity with high spectral amplitudes (in the band 2-7 Hz) which was more prominent in pts in hemo for more than 4 years. The magnetic activity was within normal ranges in all CAPD pts. We conclude that: 1) There is high magnetic brain activity in HD pts, which in accordance with the EEG findings are signs of diffuse encephalopathy. 2) CAPD pts show a very low magnetic brain activity which must be interpreted as normal brain function, and 3) MEG can be useful in further measurement of adequacy of dialysis.
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Mol Genet Genomic Med
February 2025
Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain.
Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-old boy presenting with psychomotor regression, spasticity, and dystonic postures.
Methods And Results: Trio-based whole exome sequencing revealed two previously unreported loss-of-function variants in the FUCA1 gene.
Ophthalmic Physiol Opt
January 2025
Robert O Curle Ophthalmology Suite, Institute for Regeneration and Repair, The University of Edinburgh, Edinburgh, UK.
Purpose: To determine whether imaging features derived from fundus photographs contain 3D eye shape information beyond that available from spherical equivalent refraction (SER).
Methods: We analysed 99 eyes of 68 normal adults in the UK Biobank. An ellipsoid was fitted to the entire volume of each posterior eye (vitreous chamber without the lens)-segmented from magnetic resonance imaging of the brain.
Alzheimers Res Ther
January 2025
Department of Neurology, University Medical Center Rostock, 18147, Rostock, Germany.
Background: Degeneration of the basal forebrain cholinergic system is a hallmark feature shared by Alzheimer's disease (AD) and Lewy body disease (LBD) whereas hippocampus atrophy is more specifically related to AD. We aimed to investigate the relationship between basal forebrain and hippocampus atrophy, cognitive decline, and neuropathology in a large autopsy sample.
Methods: Data were obtained from the National Alzheimer's Coordinating Center (NACC).
NMR Biomed
March 2025
Centre for Advanced Imaging, The University of Queensland, St Lucia, Queensland, Australia.
In this work, we introduce spatial and chemical saturation options for artefact reduction in magnetic resonance fingerprinting (MRF) and assess their impact on T and T mapping accuracy. An existing radial MRF pulse sequence was modified to enable spatial and chemical saturation. Phantom experiments were performed to demonstrate flow artefact reduction and evaluate the accuracy of the T and T maps.
View Article and Find Full Text PDFBMC Med
January 2025
Sleep Medicine Center, State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, National Center for Respiratory Medicine, Guangzhou Institute of Respiratory Health, The First Affiliated Hospital of Guangzhou Medical University, NO.28 Qiaozhong Mid Road, Guangzhou, Guangdong, 510160, China.
Background: Obstructive sleep apnea (OSA) is linked to brain alterations, but the specific regions affected and the causal associations between these changes remain unclear.
Methods: We studied 20 pairs of age-, sex-, BMI-, and education- matched OSA patients and healthy controls using multimodal magnetic resonance imaging (MRI) from August 2019 to February 2020. Additionally, large-scale Mendelian randomization analyses were performed using genome-wide association study (GWAS) data on OSA and 3935 brain imaging-derived phenotypes (IDPs), assessed in up to 33,224 individuals between December 2023 and March 2024, to explore potential genetic causality between OSA and alterations in whole brain structure and function.
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