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The association of seizure control with neuropathology in dementia.
Brain
January 2025
Comprehensive Epilepsy Program, Department of Neurology, University of Virginia, Charlottesville, Virginia 22908, USA.
Seizures in people with dementia (PWD) are associated with faster cognitive decline and worse clinical outcomes. However, the relationship between ongoing seizure activity and postmortem neuropathology in PWD remains unexplored. We compared post-mortem findings in PWD with active, remote, and no seizures using multicentre data from 39 Alzheimer's Disease Centres from 2005 to 2021.
View Article and Find Full Text PDFNovel susceptibility genes for sleep apnea revealed by a cross-tissue transcriptome-wide association study.
Int J Biol Macromol
January 2025
Department of Neurology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing 400014, China. Electronic address:
Sleep apnea (SA) is a sleep disorder characterized by frequent interruptions in breathing during sleep and is widely recognized as a significant global public health concern. Although genome-wide association studies (GWAS) have identified several loci associated with SA susceptibility, the underlying genes and biological mechanisms remain largely unknown. A cross-tissue transcriptome-wide association study (TWAS) was performed to integrate SA GWAS summary statistics from 410,385 individuals (43,901 cases and 366,484 controls) and gene expression data from 49 distinct tissues and obtained from 838 post-mortem donors.
View Article and Find Full Text PDFNeuropathological contributions to grey matter atrophy and white matter hyperintensities in amnestic dementia.
Alzheimers Res Ther
January 2025
Laboratory for Clinical Neuroscience, Center for Biomedical Technology, Universidad Politécnica de Madrid, IdISSC, Crta M40, km38, Madrid, 28223, Spain.
Background: Dementia patients commonly present multiple neuropathologies, worsening cognitive function, yet structural neuroimaging signatures of dementia have not been positioned in the context of combined pathology. In this study, we implemented an MRI voxel-based approach to explore combined and independent effects of dementia pathologies on grey and white matter structural changes.
Methods: In 91 amnestic dementia patients with post-mortem brain donation, grey matter density and white matter hyperintensity (WMH) burdens were obtained from pre-mortem MRI and analyzed in relation to Alzheimer's, vascular, Lewy body, TDP-43, and hippocampal sclerosis (HS) pathologies.
Using minimally invasive tissue sampling (MITS) and Determination of Cause of Death (DeCoDe) to establish etiologies of community respiratory deaths among Zambian infants and children.
J Pediatric Infect Dis Soc
December 2024
Bill & Melinda Gates Foundation, Seattle, WA, USA.
In low-to-middle income countries, acute lower respiratory infection (ALRI) remains the leading infectious cause of death among infants and children under 5 years old. Case-control studies based on upper respiratory sampling have informed current understandings of ALRI etiologies; in contrast, minimally-invasive tissue sampling (MITS) offers a method of directly interrogating lower respiratory tract pathogens to establish etiologic distributions. This study performed in the post-mortem setting used MITS and a Determination of Cause of Death (DeCoDe) panel to elucidate causes of fatal pneumonia in the community in Lusaka, Zambia.
View Article and Find Full Text PDFA Post-Mortem Molecular Damage Profile in the Ancient Human Mitochondrial DNA.
Mol Ecol Resour
January 2025
Research Group in Biological Anthropology, Biological Anthropology Unit, Department of Animal Biology, Vegetal Biology and Ecology, Universitat Autònoma de Barcelona, Barcelona, Spain.
Mitochondrial DNA (mtDNA) analysis is crucial for understanding human population structure and genetic diversity. However, post-mortem DNA damage poses challenges, that make analysis difficult. DNA preservation is affected by environmental conditions which, among other factors, complicates the differentiation of endogenous variants from artefacts in ancient mtDNA mix profiles.
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