The impact of imprecise case definitions in electronic health record research: a melanoma case-study from the Million Veteran Program.

Cases for a disease can be defined broadly using diagnostic codes, or narrowly using gold-standard confirmation that often is not available in large administrative datasets. These different definitions can have significant impacts on the results and conclusions of studies. We conducted this study to assess how using melanoma phecodes versus histologic confirmation for invasive or in situ melanoma impacts the results of a genome-wide association study (GWAS) using the Million Veteran Program.

Global cellular proteo-lipidomic profiling of diverse lysosomal storage disease mutants using nMOST.

Lysosomal storage diseases (LSDs) comprise ~50 monogenic disorders marked by the buildup of cellular material in lysosomes, yet systematic global molecular phenotyping of proteins and lipids is lacking. We present a nanoflow-based multiomic single-shot technology (nMOST) workflow that quantifies HeLa cell proteomes and lipidomes from over two dozen LSD mutants. Global cross-correlation analysis between lipids and proteins identified autophagy defects, notably the accumulation of ferritinophagy substrates and receptors, especially in and mutants, where lysosomes accumulate cholesterol.

Preferences of pregnant women and obstetric healthcare professionals on using noninvasive prenatal testing to predict adverse pregnancy outcomes: a discrete choice experiment.

Objectives: Noninvasive prenatal testing (NIPT) to screen for fetal aneuploidies by analysing cell-free DNA in maternal plasma is available to pregnant women worldwide. In the future, the scope of NIPT could potentially be expanded to the prediction of adverse pregnancy outcomes. The objective of this study was to assess and compare the preferences of pregnant women and obstetric healthcare professionals on this new test purpose of NIPT.

Systematic Approach to Parametrization of Disaccharides for the Martini 3 Coarse-Grained Force Field.

Sugars are ubiquitous in biology; they occur in all kingdoms of life. Despite their prevalence, they have often been somewhat neglected in studies of structure-dynamics-function relationships of macromolecules to which they are attached, with the exception of nucleic acids. This is largely due to the inherent difficulties of not only studying the conformational dynamics of sugars using experimental methods but indeed also resolving their static structures.

Medication adherence in rheumatoid arthritis: implications for cardiovascular disease risk and strategies to address in U.S. veterans.

Introduction: Rheumatoid arthritis (RA) is a systemic inflammatory disease associated with an increased risk of cardiovascular disease (CVD) and premature mortality. The risk of CVD is closely associated with RA disease activity, and achieving RA remission using disease-modifying anti-rheumatic drugs (DMARDs) can significantly mitigate this risk. However, despite the availability of highly effective DMARDs, many veterans fail to achieve sustained RA remission.