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Refinement of Single Nucleotide Polymorphisms of Atopic Dermatitis related Filaggrin through R packages

Naravane et al. | Oct 12, 2022

Refinement of Single Nucleotide Polymorphisms of Atopic Dermatitis related Filaggrin through R packages

In the United States, there are currently 17.8 million affected by atopic dermatitis (AD), commonly known as eczema. It is characterized by itching and skin inflammation. AD patients are at higher risk for infections, depression, cancer, and suicide. Genetics, environment, and stress are some of the causes of the disease. With the rise of personalized medicine and the acceptance of gene-editing technologies, AD-related variations need to be identified for treatment. Genome-wide association studies (GWAS) have associated the Filaggrin (FLG) gene with AD but have not identified specific problematic single nucleotide polymorphisms (SNPs). This research aimed to refine known SNPs of FLG for gene editing technologies to establish a causal link between specific SNPs and the diseases and to target the polymorphisms. The research utilized R and its Bioconductor packages to refine data from the National Center for Biotechnology Information's (NCBI's) Variation Viewer. The algorithm filtered the dataset by coding regions and conserved domains. The algorithm also removed synonymous variations and treated non-synonymous, frameshift, and nonsense separately. The non-synonymous variations were refined and ordered by the BLOSUM62 substitution matrix. Overall, the analysis removed 96.65% of data, which was redundant or not the focus of the research and ordered the remaining relevant data by impact. The code for the project can also be repurposed as a tool for other diseases. The research can help solve GWAS's imprecise identification challenge. This research is the first step in providing the refined databases required for gene-editing treatment.

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Reduce the harm of acid rain to plants by producing nitrogen fertilizer through neutralization

Xu et al. | Apr 25, 2023

Reduce the harm of acid rain to plants by producing nitrogen fertilizer through neutralization
Image credit: Ave Calvar Martinez, pexels.com

The phenomenon of dying trees and plants in areas affected by acid rain has become increasingly problematic in recent times. Is there any method to efficiently utilize the rainwater and reduce the harmfulness of acid rain or make it beneficial to plants? This study aimed to investigate the potential of neutralizing acid rainwater infiltrating the soil to increase soil pH, produce beneficial salts for plants, and support better plant growth. To test this hypothesis, precipitation samples were collected from six states in the U.S. in 2022, and the pH of the acid rain was measured to obtain a representative pH value for the country. Experiments were then conducted to simulate the neutralization of acid rain and the subsequent change in soil pH levels. To evaluate the effectiveness and feasibility of this method, cat grass was planted in pots of soil soaked with solutions mimicking acid rain, with control and experimental groups receiving neutralizing agents (ammonium hydroxide) or not. Plant growth was measured by analyzing the height of the plants. Results demonstrated that neutralizing agents were effective in improving soil pH levels and that the resulting salts produced were beneficial to the growth of the grass. The findings suggest that this method could be applied on a larger agricultural scale to reduce the harmful effects of acid rain and increase agricultural efficiency.

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The role of xpa-1 and him-1 in UV protection of Caenorhabditis elegans

Tung et al. | Feb 25, 2022

The role of <em>xpa-1</em> and <em>him-1</em> in UV protection of <em>Caenorhabditis elegans</em>

Caenorhabditis elegans xpa-1 and him-1 are orthologs of human XPA and human SMC1A, respectively. Mutations in the XPA are correlated with Xeroderma pigmentosum, a condition that induces hypersensitivity to ultraviolet (UV) radiation. Alternatively, SMC1A mutations may lead to Cornelia de Lange Syndrome, a multi-organ disorder that makes patients more sensitive to UVinduced DNA damage. Both C. elegans genes have been found to be involved in protection against UV radiation, but their combined effects have not been tested when they are both knocked down. The authors hypothesized that because these genes are involved in separate pathways, the simultaneous knockdown of both of these genes using RNA interference (RNAi) in C. elegans will cause them to become more sensitive to UV radiation than either of them knocked down individually. UV protection was measured via the percent survival of C. elegans post 365 nm and 5.4x10-19 joules of UV radiation. The double xpa-1/him-1 RNAi knockdown showed a significantly reduced percent survival after 15 and 30 minutes of UV radiation relative to wild-type and xpa-1 and him-1 single knockdowns. These measurements were consistent with their hypothesis and demonstrated that xpa-1 and him-1 genes play distinct roles in resistance against UV stress in C. elegans. This result raises the possibility that the xpa-1/him-1 double knockdown could be useful as an animal model for studying the human disease Xeroderma pigmentosum and Cornelia de Lange Syndrome.

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The Effect of Concentration on the Pressure of a Sodium Chloride Solution Inside Dialysis Tubing

Dye et al. | Nov 13, 2018

The Effect of Concentration on the Pressure of a Sodium Chloride Solution Inside Dialysis Tubing

In this study, the authors investigate the effects of sodium levels on blood pressure, one of the most common medical problems worldwide. They used a simulated blood vessel constructed from dialysis tubing to carefully analyze pressure changes resulting from various levels of sodium in the external solution. They found that when the sodium concentration in the simulated blood vessel was higher than the external fluid, internal pressure increased, while the reverse was true when the sodium concentration was lower than in the surrounding environment. These results highlight the potential for sodium concentration to have a significant effect on blood pressure in humans by affecting the rate of osmosis across the boundaries of actual blood vessels.

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Breast cancer mammographic screening by different guidelines among women of different races/ethnicities

Wang et al. | Aug 27, 2023

Breast cancer mammographic screening by different guidelines among women of different races/ethnicities

Mammographic screening is a common diagnostic tool for breast cancer among average-risk women. The authors hypothesized that adherence rates for mammographic screening may be lower among minorities (non-Hispanic black (NHB) and Hispanic/Latino) than among non-Hispanic whites (NHW) regardless of the guideline applied. The findings support other studies’ results that different racial/ethnic and socio-demographic factors can affect screening adherence. Therefore, healthcare providers should promote breast cancer screening especially among NHW/Hispanic women and women lacking insurance coverage.

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