Publications by authors named "H-J Graff"
Article Synopsis
- Effective longitudinal biomarkers, like cerebral perfusion, are crucial for tracking disease progression in presymptomatic genetic frontotemporal dementia (FTD) carriers.
- The study examined cerebral perfusion in various genetic FTD groups using advanced MRI techniques and found declines in gray matter perfusion across all groups, with specific regional patterns.
- Results suggest that monitoring cerebral perfusion could serve as an early biomarker for detecting FTD before symptoms appear, especially highlighting differences among genetic subgroups.
Exposure to metalworking fluid has been shown to cause health problems among workers. The aim of this study was to compare health outcomes and levels of exposure among workers exposed to metalworking fluid before and after the implementation of preventive measures. The frequencies of self-reported symptoms, as well as the concentrations of measured substances were lower after the implementation of preventive measures.
View Article and Find Full Text PDFObjective: We tested the hypothesis that plasma neurofilament light chain (NfL) identifies asymptomatic carriers of familial frontotemporal lobar degeneration (FTLD)-causing mutations at risk of disease progression.
Methods: Baseline plasma NfL concentrations were measured with single-molecule array in original (n = 277) and validation (n = 297) cohorts. , , and mutation carriers and noncarriers from the same families were classified by disease severity (asymptomatic, prodromal, and full phenotype) using the CDR Dementia Staging Instrument plus behavior and language domains from the National Alzheimer's Disease Coordinating Center FTLD module (CDR+NACC-FTLD).
Background: We examined how expanding electrocardiographic trait genome-wide association studies to include ancestrally diverse populations, prioritize more precise phenotypic measures, and evaluate evidence for shared genetic effects enabled the detection and characterization of loci.
Methods: We decomposed 10 seconds, 12-lead electrocardiograms from 34 668 multi-ethnic participants (15% Black; 30% Hispanic/Latino) into 6 contiguous, physiologically distinct (P wave, PR segment, QRS interval, ST segment, T wave, and TP segment) and 2 composite, conventional (PR interval and QT interval) interval scale traits and conducted multivariable-adjusted, trait-specific univariate genome-wide association studies using 1000-G imputed single-nucleotide polymorphisms. Evidence of shared genetic effects was evaluated by aggregating meta-analyzed univariate results across the 6 continuous electrocardiographic traits using the combined phenotype adaptive sum of powered scores test.
Article Synopsis
- Short and long sleep durations are linked to negative lipid profiles through different biological processes, which can affect levels of HDL, LDL, and triglycerides.* -
- A study with 126,926 participants from diverse ancestries identified 49 new gene variants related to lipid levels influenced by sleep duration, as well as 10 additional variants specifically in European ancestry cohorts.* -
- The research highlights important gene-sleep interactions that could explain variations in triglyceride levels, enhancing our knowledge of how sleep affects lipid metabolism.*
Article Synopsis
- Hereditary angioedema is a serious genetic condition that leads to severe swelling due to mutations affecting the C1 inhibitor, which can be addressed by the oral drug BCX7353 that inhibits plasma kallikrein.
- In a clinical trial involving 77 patients, BCX7353 was tested in four daily doses (62.5 mg to 350 mg) compared to a placebo to prevent angioedema attacks over 28 days, focusing on attack rates and patient quality of life.
- Results showed that daily doses of 125 mg or higher significantly reduced the number of angioedema attacks and improved quality of life, while mild gastrointestinal side effects were the main adverse events reported.