Despite their similar nomenclature, Neurofibromatosis type 1 (NF1) and "Neurofibromatosis type 2" are discrete and clinically distinguishable entities. The name of "neurofibromatosis type 2" has been changed to NF2-related schwannomatosis, to reflect the fact that neurofibromas do not occur in this syndrome and therefore the name "Neurofibromatosis" is factually incorrect. Furthermore, multiple schwannomas, a hallmark feature of NF2, can also occur in patients with mutations in genes including SMARCB1 and LZTR1, all exhibiting overlapping clinical features.
View Article and Find Full Text PDFLarge-scale gene-environment interaction (GxE) discovery efforts often involve analytical compromises for the sake of data harmonization and statistical power. Refinement of exposures, covariates, outcomes, and population subsets may be helpful to establish often-elusive replication and evaluate potential clinical utility. Here, we used additional datasets, an expanded set of statistical models, and interrogation of lipoprotein metabolism via nuclear magnetic resonance (NMR)-based lipoprotein subfractions to refine a previously discovered GxE modifying the relationship between physical activity (PA) and HDL-cholesterol (HDL-C).
View Article and Find Full Text PDFMeasuring the cytotoxicity of human T cells is a valuable but challenging task. We present a protocol for assessing the ability of polyclonal human T cells to kill target cells upon T cell receptor (TCR) triggering. We describe steps for preparing L and T cells for the assay and incubation of target cells with effector cells.
View Article and Find Full Text PDFJ Indian Prosthodont Soc
January 2025
Aims: To assess the role of oral health literacy (OHL) in demand for oral healthcare services for missing teeth replacement among adult patients who are visiting the outpatient department of a teaching hospital, Andhra Pradesh, India.
Settings And Design: This cross-sectional study was conducted in a dental teaching institute, Andhra Pradesh, southern part of India.
Materials And Methods: Based on the inclusion and exclusion criteria, a sample of adult participants was selected through systematic random method from the patients who visited the outpatient department.
This study employed a lab-scale fluidized bed steam gasification setup to perform the co-gasification experiments with blast furnace dust (BFD) and petcoke (PC) - wastes from the steel and refining industries, respectively. Multiple experiments were conducted at the optimized conditions to decipher the effects of the mineralogical content of the feed samples on the gasification performance parameters. With the addition of iron and zinc-abundant BFD sample to PC, an effective enhancement in the ability of the gasifier to produce hydrogen-rich synthesis gas was observed, attributed to an increase in surface active sites for gasification reactivity.
View Article and Find Full Text PDF