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Trajectories Between Cigarette Smoking and Electronic Nicotine Delivery System Use Among Adults in the U.S.

Primack et al. | Apr 30, 2020

Trajectories Between Cigarette Smoking and Electronic Nicotine Delivery System Use Among Adults in the U.S.

In this study, the authors characterized the trends of cigarette use amongst people who do and don't use electronic nicotine delivery systems (or ENDS). This was done to help determine if the use of ENDS is aiding in helping smokers quit, as the data on this has been controversial. They found that use of ENDS among people either with or without previous cigarette usage were more likely to continue using cigarettes in the future. This is important information contributing to our understanding of ways to effectively (and not effectively) reduce cigarette use.

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Investigation of unknown causes of uveal melanoma uncovers seven recurrent genetic mutations

Nanda et al. | Aug 25, 2022

Investigation of unknown causes of uveal melanoma uncovers seven recurrent genetic mutations

Uveal melanoma (UM) is a rare subtype of melanoma but the most frequent primary cancer of the eye in adults. The goal of this study was to research the genetic causes of UM through a comprehensive frequency analysis of base-pair mismatches in patient genomes. Results showed a total of 130 genetic mutations, including seven recurrent mutations, with most mutations occurring in chromosomes 3 and X. Recurrent mutations varied from 8.7% to 17.39% occurrence in the UM patient sample, with all mutations identified as missense. These findings suggest that UM is a recessive heterogeneous disease with selective homozygous mutations. Notably, this study has potential wider significance because the seven genes targeted by recurrent mutations are also involved in other cancers.

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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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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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Geographic Distribution of Scripps National Spelling Bee Spellers Resembles Geographic Distribution of Child Population in US States upon Implementation of the RSVBee “Wildcard” Program

Kannankeril et al. | Aug 17, 2020

Geographic Distribution of Scripps National Spelling Bee Spellers Resembles Geographic Distribution of Child Population in US States upon Implementation of the RSVBee “Wildcard” Program

The Scripps National Spelling Bee (SNSB) is an iconic academic competition for United States (US) schoolchildren, held annually since 1925. However, the sizes and geographic distributions of sponsored regions are uneven. One state may send more than twice as many spellers as another state, despite similar numbers in child population. In 2018, the SNSB introduced a wildcard program known as RSVBee, which allowed students to apply to compete as a national finalist, even if they did not win their regional spelling bee. In this study, the authors tested the hypothesis that the geographic distribution of SNSB national finalists more closely matched the child population of the US after RSVBee was implemented.

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Who is at Risk for a Spinal Fracture? – A Comparative Study of National Health and Nutrition Examination Survey Data

He et al. | Mar 01, 2018

Who is at Risk for a Spinal Fracture? – A Comparative Study of National Health and Nutrition Examination Survey Data

One common age-related health problem is the loss of bone mineral density (BMD), which can lead to a variety of negative health outcomes, including increased risk of spinal fracture. In this study, the authors investigate risk factors that may be predictive of an individual's risk of spinal fracture. Their findings provide valuable information that clinicians can use in patient evaluations.

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