Hypomyelinating leukodystrophy is a genetic disorder characterized by deficient myelination of the central nervous system white matter. An international team of researchers has published a case report of 4 unrelated families with a hypomyelinating leukodystrophy phenotype.
The usefulness of glial fibrillary acidic protein (GFAP) and ubiquitin C-terminal hydrolase L1 (UCHL1) for the early prediction of long-term traumatic brain injury (TBI) outcomes has not been well investigated.
Adiponectin (ADIPOQ) is an adipocyte-derived hormone that promotes insulin sensitivity, inhibits cell death and decreases inflammation. Previous studies identified common variants in the ADIPOQ gene that have been associated with aberrant adiponectin levels, obesity, type 2 diabetes and diabetic kidney disease. In a recent study, the first multigenerational family was identified as harboring a protein-truncating mutation in the ADIPOQ gene, p.Gly93GlufsTer73, that cosegregated with diabetes and end-stage renal disease.
Chemokines are small signaling cytokines that are involved in many physiological processes such as host immune responses, wound healing and bone remodeling, with two of these chemokines, C-X-C motif chemokine 9 (CXCL9) and CXCL10, being involved in different osteoimmuno-modulating pathways.
There is a need of better markers that reflect key mechanisms involved in diabetic kidney disease (DKD). In a new study, investigators have identified increased concentrations of neuroblastoma suppressor of tumorigenicity 1 (NBL1) as a strong and independent predictor of progression to end-stage kidney disease (ESKD) in patients with diabetes.
Researchers presented data from a study that aimed to investigate the mechanism by which extracellular vesicle (EV)-associated miRNAs are involved in the activation of autophagy and the development of chemoradiation resistance in advanced non-small cell lung cancer (NSCLC).
Data on C2N Diagnostic LLC’s new blood test combining a proprietary p-tau217 measurement with the amyloid beta (a-beta) 42/40 ratio, a component of C2N’s commercially available PrecivityAD blood test, could help to predict people at risk for Alzheimer’s disease (AD) – even at the earliest stages.