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The vestibular and oculomotor dysfunction in Fabry disease: a cohort study in China.
Ann Med
December 2025
Department of Neurology, Peking University First Hospital, China.
Objective: Whereas a few studies have evaluated vestibular involvement in Fabry disease (FD), the relationship between vestibular/oculomotor abnormalities and disease-specific biomarkers remain unclear. Therefore, we seek to evaluate these quantitatively and analyze their relationship with disease phenotype and biomarkers in FD.
Methods: This cohort study enrolled 37 Chinese FD patients registered in our center.
Enhanced brain tumor detection and segmentation using densely connected convolutional networks with stacking ensemble learning.
Comput Biol Med
January 2025
Emerging Technologies Research Lab (ETRL), College of Computer Science and Information Systems, Najran University, Najran, 61441, Saudi Arabia; Department of Computer Science, College of Computer Science and Information Systems, Najran University, Najran, 61441, Saudi Arabia. Electronic address:
- Brain tumors (BT), both benign and malignant, pose a substantial impact on human health and need precise and early detection for successful treatment. Analysing magnetic resonance imaging (MRI) image is a common method for BT diagnosis and segmentation, yet misdiagnoses yield effective medical responses, impacting patient survival rates. Recent technological advancements have popularized deep learning-based medical image analysis, leveraging transfer learning to reuse pre-trained models for various applications.
View Article and Find Full Text PDFMild behavioral impairment and its relation to amyloid load in isolated REM sleep behavior disorder.
Parkinsonism Relat Disord
January 2025
Department of Nuclear Medicine, Seoul Metropolitan Government-Seoul National University Boramae Medical Center, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:
Introduction: In isolated REM sleep behavior disorder (iRBD), the evidence of cognitive impairment and co-existing amyloid pathology suggests that mild behavioral impairment (MBI) may be associated with disease progression. In this study, we investigated MBI and its association with cognitive function, brain amyloid load and glucose metabolism in iRBD patients to evaluate the utility of MBI as a predictive marker of disease progression.
Methods: Patients with iRBD underwent a neuropsychological evaluation, F-florbetaben (FBB) PET, and F-fluorodeoxyglucose (FDG) PET.
The Hao-Fountain syndrome protein USP7 regulates neuronal connectivity in the brain via a novel p53-independent ubiquitin signaling pathway.
Cell Rep
January 2025
Department of Neurological Surgery, Washington University School of Medicine, St. Louis, MO 63110, USA; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA; The Brain Tumor Center, Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:
Mutation or deletion of the deubiquitinase USP7 causes Hao-Fountain syndrome (HAFOUS), which is characterized by speech delay, intellectual disability, and aggressive behavior and highlights important unknown roles of USP7 in the nervous system. Here, we conditionally delete USP7 in glutamatergic neurons in the mouse forebrain, triggering disease-relevant phenotypes, including sensorimotor deficits, impaired cognition, and aggressive behavior. Although USP7 deletion induces p53-dependent neuronal apoptosis, most behavioral abnormalities in USP7 conditional knockout mice persist following p53 loss.
View Article and Find Full Text PDFAssociation Between Early Childhood P300 Deficits and Risk for Preadolescence Depressive Disorder Mediated by Responsiveness to PCIT-ED Treatment.
Res Child Adolesc Psychopathol
January 2025
School of Education and Counseling Psychology, Santa Clara University, Santa Clara, CA, USA.
Preschool-onset major depressive disorder (PO-MDD) is an impairing pediatric mental health disorder that impacts children as young as three years old. There is limited work dedicated to uncovering neural measures of this early childhood disorder which could be leveraged to further understand both treatment responsiveness and future depression risk. Event-related potentials (ERPs) such as the P300 have been employed extensively in adult populations to examine depression-related deficits in cognitive and motivational systems.
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