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Fixation-related potentials during a virtual navigation task: The influence of image statistics on early cortical processing.
Atten Percept Psychophys
January 2025
U.S. DEVCOM Army Research Laboratory, Humans in Complex Systems, Aberdeen Proving Ground, MD, USA.
Historically, electrophysiological correlates of scene processing have been studied with experiments using static stimuli presented for discrete timescales where participants maintain a fixed eye position. Gaps remain in generalizing these findings to real-world conditions where eye movements are made to select new visual information and where the environment remains stable but changes with our position and orientation in space, driving dynamic visual stimulation. Co-recording of eye movements and electroencephalography (EEG) is an approach to leverage fixations as time-locking events in the EEG recording under free-viewing conditions to create fixation-related potentials (FRPs), providing a neural snapshot in which to study visual processing under naturalistic conditions.
View Article and Find Full Text PDFCompound heterozygous TMEM67 biallelic variants including a novel frameshift mutation in two Filipino adolescent siblings with Joubert syndrome.
J Neural Transm (Vienna)
January 2025
Section of Adult Neurology, Department of Internal Medicine, Chong Hua Hospital, Fuente, Cebu, Philippines.
Joubert Syndrome (JS) is a congenital cerebellar ataxia typically inherited in an autosomal recessive pattern, although rare X-linked inheritance can occur. It is characterized by hypotonia evolving into ataxia, global developmental delay, oculomotor apraxia, breathing dysregulation, and multiorgan involvement. To date, there are 40 causative genes implicated in JS, all of which encode proteins of the primary cilium.
View Article and Find Full Text PDFA de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease.
Sci Rep
January 2025
Division for Neurogeriatrics, Centre for Alzheimer Research, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
Copy number variation (CNV) of the amyloid-β precursor protein gene (APP) is a known cause of autosomal dominant Alzheimer disease (ADAD), but de novo genetic variants causing ADAD are rare. We report a mother and daughter with neuropathologically confirmed definite Alzheimer disease (AD) and extensive cerebral amyloid angiopathy (CAA). Copy number analysis identified an increased number of APP copies and genome sequencing (GS) revealed the underlying complex genomic rearrangement (CGR) including a triplication of APP with two unique breakpoint junctions (BPJs).
View Article and Find Full Text PDFEvaluation of contralateral arterial flow compensation using transcranial Doppler in acute internal carotid artery occlusion and implications for neurological outcome.
Sci Rep
January 2025
Department of Neurology, Inner Mongolia Autonomous Region People's Hospital, Hohhot, China.
Acute internal carotid artery occlusion (AICAO) can result in malignant cerebral edema and unfavorable patient outcomes. This study evaluated the utility of transcranial Doppler (TCD) in assessing contralateral flow compensation and predicting outcomes in patients with AICAO. We enrolled 51 patients within 6 h of symptom onset and conducted TCD examinations to evaluate collateral circulation.
View Article and Find Full Text PDFTrends, global comparisons, and projections of early onset colorectal cancer burden in China based on GBD study 2021.
Sci Rep
January 2025
Department of Traditional Chinese Medicine, Nanjing Drum Tower Hospital, The Drum Tower Clinical Medical College, Nanjing University of Chinese Medicine, Nanjing, China.
This study aimed to analyze the trends of early-onset colorectal cancer (EOCRC) among individuals aged 15 to 49 in China from 1990 to 2021 and compare them with global patterns using data from the Global Burden of Disease (GBD) study. The analysis focused on age-standardized incidence rates (ASIR), prevalence rates (ASPR), mortality rates (ASMR), and disability-adjusted life years (DALYs). Joinpoint regression was used to determine the average annual percentage change (AAPC), and the ARIMA model was employed to forecast trends from 2022 to 2050.
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