Amyloid-PET studies of neurodegenerative diseases may yield inconclusive findings due to lacking stratification according to genetic or demographic variants. APOEɛ4 alleles are the major variants to increase disease susceptibility and cause earlier onset and more behavioral features in patients with late-onset Alzheimer's disease, but have no linear effects on cognitive or functional decline; thus, sample stratification according to APOEɛ4 carrier status may be the best option. Interactions among APOEɛ4 alleles, sex, and age on amyloid-β deposition may reveal even more innovative findings with sufficiently large samples, suggesting variable genomic effects of cognitive reserve, sex differences, and cerebrovascular risk on neurodegeneration.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3233/JAD-230561 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Bridging health registry data acquisition and real-time data analytics.
Front Med (Lausanne)
December 2024
Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
The number of clinical studies and associated research has increased significantly in the last few years. Particularly in rare diseases, an increased effort has been made to integrate, analyse, and develop new knowledge to improve patient stratification and wellbeing. Clinical databases, including digital medical records, hold significant amount of information that can help understand the impact and progression of diseases.
View Article and Find Full Text PDFRisk Factors for Extraocular Relapse in Retinoblastoma.
Semin Ophthalmol
January 2025
SJD Pediatric Cancer Center Barcelona, Hospital Sant Joan de Deu, Barcelona, Spain.
Background: Metastatic retinoblastoma remains a significant challenge in pediatric oncology, with stark disparities in survival outcomes between high-income countries (HICs) and low-income countries (LICs). Delayed diagnosis and treatment, driven by socioeconomic factors and limitations in healthcare systems, contribute to poorer outcomes in LICs. Histopathological characteristics, including high-risk pathology factors (HRPFs) and the extent of ocular tumor invasion, are critical for predicting metastatic risk and guiding treatment strategies.
View Article and Find Full Text PDFEfficacy of geneguided preemptive therapy for prevention of relapse in acute myeloid leukemia after transplantation and its optimal intervention threshold.
Zhong Nan Da Xue Xue Bao Yi Xue Ban
July 2024
Department of Hematology, Xiangya Hospital, Central South University, Changsha 410008.
Objectives: Monitoring minimal residual disease (MRD) and timely intervention are effective strategies for preventing relapse after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in adult acute myeloid leukemia (AML). The gene, a pan-leukemia marker, can be used as an indicator for MRD monitoring in AML patients. Currently, there is no unified standard for the intervention timing or treatment threshold based on gene detection after transplantation.
View Article and Find Full Text PDFPatient stratification by genetic risk in Alzheimer's disease is only effective in the presence of phenotypic heterogeneity.
PLoS One
January 2025
Washington University School of Medicine, NeuroGenomics and Informatics Center, St. Louis, MO, United States of America.
Case-only designs in longitudinal cohorts are a valuable resource for identifying disease-relevant genes, pathways, and novel targets influencing disease progression. This is particularly relevant in Alzheimer's disease (AD), where longitudinal cohorts measure disease "progression," defined by rate of cognitive decline. Few of the identified drug targets for AD have been clinically tractable, and phenotypic heterogeneity is an obstacle to both clinical research and basic science.
View Article and Find Full Text PDFRAD51 testing in patients with early HER2-negative breast cancer and homologous recombination deficiency: post-hoc analysis of the GeparOla trial.
Clin Cancer Res
December 2024
Vall d'Hebron Institute of Oncology, Barcelona, Spain.
Purpose: The randomized GeparOla trial reported comparable pathological complete response (pCR) rates with neoadjuvant containing olaparib vs. carboplatin treatment. Here, we evaluate the association between functional homologous repair deficiency (HRD) by RAD51 foci and pCR, and the potential of improving patient selection by combining RAD51 and stromal tumor infiltrating lymphocytes (sTILs).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!