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Environmental Disease
Published in Gary S. Moore, Kathleen A. Bell, Living with the Earth, 2018
Gary S. Moore, Kathleen A. Bell
With dominant gene mutations, these are usually mild defects since they are always expressed and have been passed down over multiple generations. The hereditary disease, spherocytosis, a form of anemia, is caused by an autosomal dominant point mutation. Dominant genes that are lethal before reproductive age would not persist in a population, as the carriers would die before the mutation could be passed down to progeny. A lethal dominant gene produces Huntington’s disease, but this disease is normally expressed in the fourth and fifth decades.27
Effect of collision, size, and oscillation of RBCs on blood heat transfer in a bifurcated vessel
Published in Computer Methods in Biomechanics and Biomedical Engineering, 2022
Sidharth Sankar Das, Swarup Kumar Mahapatra
Axial migration of RBCs towards the center of a blood vessel creates a plasma and platelets rich layer near the wall, which is termed as plasma skimming effect. This migration of RBCs towards the center of blood vessel also depends on RBC surface area, collision frequency with both particle and wall, and also collision type (elastic or inelastic) (Munn and Dupin 2008). Due to presence of strong curved streamlines in the bifurcated channel, inter-particle and particle wall collision is much more frequent compared to tube flow. Normally RBCs have a surface area to volume ratio of 1.5 (Namvar et al. 2020), but this ratio changes when osmotic pressure in blood is altered. The causes of this alteration, which subsequently changes the deformability of RBCs, are hereditary spherocytosis, haemolytic-anaemia, and malaria infection (Ebrahimi and Bagchi 2022). The coefficient of restitution between RBCs changes according to the deformability. So, to understand how inter particle collision affects the heat transfer in bifurcated blood vessel, analysis is done in this section. At the inlet of branch vessel-1, the effect of RBC-RBC collision on radial variation of blood heat transfer and temperature is studied. In this study to understand the effect of collision, two different values (of coefficient of restitution (e) (0.6 and 0.95) are taken for analysis purpose.
The expression of Phase II drug-metabolizing enzymes in human B-lymphoblastoid TK6 cells
Published in Journal of Environmental Science and Health, Part C, 2022
Xilin Li, Yuxi Li, Kylie G. Ning, Si Chen, Lei Guo, Jessica A. Bonzo, Nan Mei
In vitro genotoxicity testing has been successfully used to predict genotoxicity and plays an important role in chemical risk assessment. The human B-lymphoblastoid TK6 cell line was established in 1978 from the parental WI-L2 cells, which are diploid lymphoblast cells derived from a 5-year-old male with hereditary spherocytosis. The relevance of TK6 cells to genetic toxicology stems from their heterozygosity at the thymidine kinase (TK) locus on human chromosome 17 and the presence of the hypoxanthine phosphoribosyl transferase (HPRT) gene on the X chromosome. Due to these specific features, the TK6 cell line was originally used in the TK mutation assay to detect point mutations, deletions, and recombination, and is also well suited for the HPRT gene mutation assay. Both TK and HPRT gene mutation assays have been recommended by international authorities such as the Organization for Economic Co-operation and Development (OECD) and described in the OECD testing guidelines (TG) 476 and 490.1,2 Currently, the human TK6 cell line is widely used as a standard cell line for regulatory safety assessments to conduct TK and HPRT gene mutation assays, chromosome aberration tests (e.g., OECD TG473), micronucleus assays (e.g., OECD TG487), and comet assays.3 In fact, a recent international survey indicated that the human TK6 cells and mouse lymphoma L5178Y cells are the most used cell lines for in vitro genotoxicity testing.4 In addition, TK6 cells not only demonstrate negligible genetic variability to the human reference genome, but also harbor a homozygous wild type p53 gene, making them more physiologically relevant than other cell models used in genotoxicity testing.5 TK6 cells have the potential for high-throughput genotoxicity screening since they readily expand in standard RPMI 1640 cell culture media in suspension.6