Distinct peripheral pro-inflammatory profile associated with tuberous sclerosis complex and epilepsy.

Objective: Tuberous sclerosis complex (TSC) is a monogenetic disorder associated with sustained mechanistic target of rapamycin (mTOR) activation, leading to heterogeneous clinical manifestations. Epilepsy and renal angiomyolipoma are the most important causes of morbidity in adult people with TSC (pwTSC). mTOR is a key player in inflammation, which in turn could influence TSC-related clinical manifestations.

Spectral Differentiation of Hyperdense Non-Vascular and Vascular Renal Lesions Without Solid Components in Contrast-Enhanced Photon-Counting Detector CT Scans-A Pilot Study.

: The number of incidental renal lesions identified in CT scans of the abdomen is increasing. Objective: The aim of this study was to determine whether hyperdense renal lesions without solid components in a portal venous CT scan can be clearly classified as vascular or non-vascular by material decomposition into iodine and water. This retrospective single-center study included 26 patients (mean age 72 years ± 9; 16 male) with 42 hyperdense renal lesions (>20 HU) in a contrast-enhanced Photon-Counting Detector CT scan (PCD-CT) between May and December 2022.

Practical algebraic calculus and Nullstellensatz with the checkers Pacheck and Pastèque and Nuss-Checker.

Unlabelled: Automated reasoning techniques based on computer algebra have seen renewed interest in recent years and are for example heavily used in formal verification of arithmetic circuits. However, the verification process might contain errors. Generating and checking proof certificates is important to increase the trust in automated reasoning tools.

Impact of disease-associated chromatin accessibility QTLs across immune cell types and contexts.

Only a third of immune-associated loci from genome-wide association studies (GWAS) colocalize with expression quantitative trait loci (eQTLs). To learn about causal genes and mechanisms at the remaining loci, we created a unified single-cell chromatin accessibility (scATAC-seq) map in peripheral blood comprising a total of 282,424 cells from 48 individuals. Clustering and topic modeling of scATAC data identified discrete cell-types and continuous cell states, which helped reveal disease-relevant cellular contexts, and allowed mapping of genetic effects on chromatin accessibility across these contexts.