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LATE-NC risk alleles (in TMEM106B, GRN, and ABCC9 genes) among persons with African ancestry.
J Neuropathol Exp Neurol
August 2023
University of Kentucky Sanders-Brown Center on Aging, Lexington, Kentucky, USA.
Article Synopsis
- - Limbic-predominant age-related TDP-43 encephalopathy (LATE) affects around one-third of older adults and leads to cognitive decline, but the genetic causes of its neuropathologic changes (LATE-NC) remain poorly understood across different populations.
- - Key genetic risk factors for LATE-NC involve specific single nucleotide variants (SNVs) in three genes: TMEM106B, GRN, and ABCC9, with notable differences in allele frequencies found between individuals of African and European ancestry.
- - An exploratory analysis revealed that in a smaller group of African-American participants, one SNV (ABCC9/rs1914361) was linked to hippocampal sclerosis pathology, highlighting the
Howard Atwood Kelly (1858-1943) and the Kelly Clamp.
Am Surg
April 2024
R Adams Cowley Shock Trauma Center, University of Maryland Medical Center - Baltimore, Baltimore, MD, USA.
While the Kelly clamp remains one of the most utilized instruments in a host of surgical procedures, the namesake of this instrument has become unfamiliar to many modern practitioners and trainees. Howard Atwood Kelly was one of the "Big Four" founding professors at the Johns Hopkins University School of Medicine.
View Article and Find Full Text PDFDr. Howard A. Kelly's : health science pedagogy and the egalitarian future of 3D clinical visualization.
J Med Libr Assoc
April 2022
Curator, Robert L. Brown History of Medicine Collection; Associate Librarian, University Libraries, University at Buffalo, Buffalo, NY.
This article situates emerging three-dimensional (3D) visualization technologies in the health sciences within the broader historical context of the stereoscope. Although 3D visualization technologies enhance pedagogy and deepen student engagement, they are generally cost-prohibitive and therefore inaccessible for many institutions. In light of this issue, the authors consider the work of American gynecologist and founding member of The Johns Hopkins Hospital in Baltimore, Maryland, Dr.
View Article and Find Full Text PDFGenetics play an important role in late-onset Alzheimer's Disease (AD) etiology and dozens of genetic variants have been implicated in AD risk through large-scale GWAS meta-analyses. However, the precise mechanistic effects of most of these variants have yet to be determined. Deeply phenotyped cohort data can reveal physiological changes associated with genetic risk for AD across an age spectrum that may provide clues to the biology of the disease.
View Article and Find Full Text PDFNew insights into the genetic etiology of Alzheimer's disease and related dementias.
Nat Genet
April 2022
Université de Lille, INSERM, CHU Lille, Institut Pasteur Lille, U1167-RID-AGE, Facteurs de risque et déterminants moléculaires des maladies liées au vieillissement, Lille, France.
Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis.
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