Objectives: In this study we aimed to investigate corpus callosum shape differences between restless leg syndrome patients and healthy controls, and to determine whether disease severity and duration are indicators for corpus callosum deformation in RLS patients.
Methods: This study was conducted using the magnetic resonance imaging scans of 33 restless leg syndrome patients and 33 control subjects. Landmarks were marked on the digital images and callosal landmark coordinate data were used to assess shape difference by performing Generalized Procrustes analysis. The shape deformation from controls to the patients was evaluated performing the Thin Plate Spline approach.
Results: There was a statistically significant shape difference between the groups. Highest deformation was determined at the posterior midbody of the corpus callosum. Growth curve analyses showed that with the increase in disease duration and severity, the CC size decreased.
Discussion: The present study demonstrated callosal shape differences in restless leg syndrome using a landmark-based geometric morphometric approach, considering the topographic distribution of corpus callosum for the first time.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1080/01616412.2020.1773631 | DOI Listing |
Cureus
December 2024
Department of Neurosurgery, University of Tsukuba Hospital, Tsukuba, JPN.
Dysprosody affects rhythm and intonation in speech, resulting in the impairment of emotional or attitude expression, and usually presents as a negative symptom resulting in a monotonous tone. We herein report a rare case of recurrent glioblastoma (GBM) with dysprosody featuring sing-song speech. A 68-year-old man, formerly left-handed, with right temporal GBM underwent gross total resection.
View Article and Find Full Text PDFMol 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.
Am J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDFCell Mol Biol Lett
January 2025
University Cote d'Azur, Inserm, C3M, Nice, France.
Vacuolization of hematopoietic precursors cells is a common future of several otherwise non-related clinical settings such as VEXAS, Chediak-Higashi syndrome and Danon disease. Although these disorders have a priori nothing to do with one other from a clinical point of view, all share abnormal vacuolization in different cell types including cells of the erythroid/myeloid lineage that is likely the consequence of moderate to drastic dysfunctions in the ubiquitin proteasome system and/or the endo-lysosomal pathway. Indeed, the genes affected in these three diseases UBA1, LYST or LAMP2 are known to be direct or indirect regulators of lysosome trafficking and function and/or of different modes of autophagy.
View Article and Find Full Text PDFBr J Hosp Med (Lond)
January 2025
Aberdeen Biomedical Imaging Centre, University of Aberdeen, Aberdeen, UK.
Previous research has shown that smoking tobacco is associated with changes or differences in brain volume and cortical thickness, resulting in a smaller brain volume and decreased cortical thickness in smokers compared with non-smokers. However, the effects of smokeless tobacco on brain volume and cortical thickness remain unclear. This study aimed to investigate whether the use of shammah, a nicotine-containing smokeless tobacco popular in Middle Eastern countries, is associated with differences in brain volume and thickness compared with non-users and to assess the influence of shammah quantity and type on these effects.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!