Life Sciences Commons^™

Brca1 And Brca2 Mutation Carrier Perspectives On Direct-To- Consumer Genetic Testing For Brca Mutations, Caitlyn E. Mitchell

Theses and Dissertations

Recently the FDA authorized one direct-to-consumer genetic testing (DTC-GT) company to begin reporting certain genetic variants in the BRCA1 and BRCA2 genes. Pathogenic variants in these genes confer lifetime risks for breast and ovarian cancer in women as high as 87% and 62%, respectively. Historically, genetic testing for these mutations has been offered in a clinical setting where genetic counseling is part of the testing process. Genetic counseling is not routinely a part of DTC-GT, raising concern that those undergoing DTC-GT for BRCA1/2 mutations may not fully understand what is being tested, the implications of results, or that they may …

Purification Of Ara6, Ara7, And Hopaa1-1 For Enzymatic Activity Study, Alexandra M. Koberlein

Senior Theses

This thesis project details the purification of proteins HopAA1-1, ARA6, and ARA7 for enzymatic analysis via the use of a phosphate detection assay. The results of the purification process and phosphate assay suggest that HopAA1-1 is a novel GAP protein found in plant models that may exhibit GAP activity on RAB GTPase protein ARA6.

The Pharmabiotic For Phenylketonuria: Development Of A Novel Therapeutic, Chloé Elizabeth Lebegue

Senior Theses

Phenylketonuria, now known as phenylalanine hydroxylase (PAH) deficiency, is a genetic disorder of metabolism affecting approximately one in every 15,000 infants born in the United States. Patients have nonfunctional PAH enzyme secondary to one or more genetic mutations. The enzyme deficit results in destructive supraphysiologic blood phenylalanine levels upon consumption of the essential dietary amino acid phenylalanine. Current standards of care mitigate signs and symptoms of the disorder, but do not approach a cure. The methods for creating a prototype pharmabiotic as an innovative treatment strategy for PAH deficiency are described herein.

DNA molecular cloning techniques were utilized to engineer …

Be Your Best S.E.L.F., Rachel Wood, Casey Hasenbein

Senior Theses

The goal of our thesis was to use our knowledge as Exercise Science students and personal trainers to improve the health of an underserved population in South Carolina. We created a voluntary exercise and self-defense program for the girls residing at Epworth Children’s Home. The program began on October 1, 2018 and concluded on April 29, 2019 with data collecting taking place between October 8th and March 18th. Every other week SASS Defense taught their self-defense program, and on the alternating weeks we facilitated an exercise class. The program also included a mentorship aspect to create a supportive social environment …

The Perspectives Of Emerging Adults With Hereditary Diffuse Gastric Cancer, Carrie Anderson

Theses and Dissertations

Individuals with hereditary diffuse gastric cancer (HDGC) caused by a CDH1 mutation have a high lifetime risk of developing gastric cancer. National guidelines recommend CDH1 carriers undergo a prophylactic total gastrectomy (PTG)— a surgery that greatly reduces the risk of developing gastric cancer but has significant comorbidities. This study explores the impact of a diagnosis of HDGC in the transitional life stage between the ages of 18-29 deemed “emerging adulthood.” We surveyed 21 CDH1 carriers and conducted semi-structured phone interviews with 6 CDH1 carriers between the ages of 18-29 to learn about their life experiences regarding education, career, relationships, and …

Nutrient Limitation Of Phytoplankton In Lake Wateree, South Carolina: Implications For Future Water Quality Management, Kara M. Clyburn

Theses and Dissertations

Cultural eutrophication is a primary contributor to phytoplankton production in freshwater lakes from excess anthropogenic nutrient inputs, and resulting impacts on water quality, aquatic ecosystems, human and animal health are increasing worldwide. Understanding the factors that limit phytoplankton growth is an important strategy for identifying and managing nutrient sources and successfully controlling the over- enrichment of nitrogen (N) and/or phosphorus (P) in freshwater lakes. The Redfield molecular ratio of carbon (C), N and P maintains that the C:N:P molar ratio is 106:16:1 when nutrients are not limiting, and the ecosystem is balanced. A N:P molar ratio > 20:1 tends to be …

A Site Characterization And Assessment Of The Bushy Park Reservoir, A Charleston-Area Drinking Water Source, And Its Surrounding Watersheds In Response To Community Concerns, Bradley Joseph Chandler

Theses and Dissertations

Access to clean, safe drinking water is considered a basic human right (WHO 2004). It is vital to maintain adequate monitoring of source waters as well as to investigate claims of degraded source waters. In June of 2017, inaccurate reporting led many community members in Mt. Pleasant, SC to believe that their drinking water might be tainted, leading to elevated cases of brain cancer in children. Though steps were taken to test and ensure the drinking water was safe, fear over the health of the city’s drinking water still persists. This is largely due to the involvement of famed water …

Impact Of Service Delivery Model On Patient Perceptions And Utility Of Genetic Counseling For Hereditary Breast And Ovarian Cancer: An Exploration Of Group Genetic Counseling, Alyssa M. Gates

Theses and Dissertations

Patients at risk for hereditary breast and ovarian cancer (HBOC) traditionally participate in individual cancer genetic counseling sessions to be educated about cancer genetics concepts, their personal cancer risks and genetic testing. With expanding technology and increased public awareness of HBOC, referrals to cancer genetic counseling services have grown. The current number of practicing genetic counselors struggles to meet the demands of increased referrals, so new service delivery models need to be explored. The purpose of this study is to assess the utility of group genetic counseling for HBOC by evaluating the perspectives of patients that received group genetic counseling …

Effect Of Trb3 On Skeletal Muscle Mass Regulation And Exercise-Induced Adaptation, Ran Hee Choi

Theses and Dissertations

Skeletal muscle, which composes over 40% of body mass, is responsible for daily locomotion and energy metabolism. It is a malleable tissue that can adapt its structure and function in response to internal and external environmental stimuli. Changing muscle mass and energy substrate utilization is a common skeletal muscle adaptation in response to various pathological conditions, including type 2 diabetes and obesity. Failure to maintain skeletal muscle mass and function has been correlated with increasing morbidity and mortality, as well as poor quality of life. Hence, maintenance of skeletal muscle integrity is a recommended strategy in achieving better quality of …

Upper Ocean Dynamics And Mixing In The Arabian Sea During Monsoons, Corinne Beverly Trott

Theses and Dissertations

The Indian summer monsoon is a complex, nonlinear phenomenon involving atmospheric, oceanic, and land-based interactions from June through September. During this period, a strong low-level jet known as the Findlater Jet develops over the western Arabian Sea, advecting seasonally high quantities of warm, moist air to the Indian subcontinent, leading to the largest precipitation rates on the planet. The winds associated with the Findlater Jet seasonally strengthen the Arabian Sea eddy field, known for its intensity and variability. Comparison between the eddies in the western Arabian Sea during monsoon regimes of varying intensities revealed more high-amplitude eddies in strong (high-rainfall) …

Identification Of Factors Contributing To Musculoskeletal Injuries In Military Basic Trainees, Amy Fraley Hand

Theses and Dissertations

Due to the physical activity requirements of the United States (U.S.) Armed Forces, there is a concerning incidence rate of musculoskeletal injuries in military personnel. In the basic trainee population specifically, multiple studies have reported a range of exercise- related injury incidence from 14% to 42% in males and 27% to 61.7% in females. Depending on the severity, these injuries can exclude basic trainees from participation, ultimately altering career trajectory and creating the possibility of long-term disability. The studies of this dissertation examine variations in muscle strength, flexibility, and dynamic postural control as a means to identify those basic trainees …

Relative Importance Of Ions And Particles In Silver Nanoparticle Uptake And Accumulation In Keystone Estuarine Organisms; Prorocentrum Minimum And Crassostrea Virginica, Shelby Victoria Butz

Theses and Dissertations

In marine systems, silver is regarded as being one of the most toxic and readily accumulated metals, and is known to be taken up and accumulate within marine invertebrates, fish, phytoplankton and seaweeds. Reported open ocean concentrations of silver range from 0.1 – 2 ng L-1 while silver concentrations in coastal waters are typically 5 to 10 times higher than open ocean values (0.1 - 50 ng L-1). The determination of silver in marine and coastal waters presents several challenges including low concentrations and matrix complexity of seawater, which creates interferences and other challenges for many instrumental techniques creating a …

Amish Perspectives Of The Genetic Counseling Process, Brianna Teapole

Theses and Dissertations

The Amish are a population with a high concentration of genetic disorders who have informed our understanding of several genetic conditions. This culturally unique group has special need for genetic services. While clinics have been established to care for Amish individuals, such as the Community Health Clinic in Indiana, little research has been done on Amish perspectives of these services, specifically genetic counseling. Amish individuals who received genetic counseling from the Community Health Clinic were sent recruitment letters and a questionnaire via mail. The questionnaire consisted of demographic questions, a 7-item adapted Genetic Counseling Satisfaction Scale (GCSS), and open-response questions. …

Reproductive-Aged Adults Diagnosed With Tuberous Sclerosis Complex (Tsc): Understanding Of Clinical Variability, Perceived Disease Burden, And Reproductive Decision-Making, Diane L. Biederman

Theses and Dissertations

Tuberous Sclerosis Complex (TSC) is a highly variable autosomal dominant multisystem disorder characterized by the growth of benign tumors, epilepsy, and TSC- associated neuropsychiatric disorders (TAND). There is a high level of clinical variability, even within the same family. While reproductive decisions always carry a level of uncertainty, individuals with highly variable genetic conditions like TSC must consider both the chance of passing on the condition and the uncertain clinical presentation. There is currently no literature on factors influencing reproductive decisions of adults with TSC. To address this gap in understanding, we conducted an exploratory mixed-methods survey utilizing an anonymous …

The Regulation Of Skeletal Muscle Fatigue During The Progression Of Cancer Cachexia, Brandon N. Vanderveen

Theses and Dissertations

Cachexia is the unintentional loss of body weight secondary to chronic disease and is prevalent is roughly 50% of cancer patients. The loss of body weight and skeletal muscle mass is reduced functional capacity associated with reduced life quality. The etiology of cachexia is multimodal and complex; however, cachexia has been linked to several systemic (e.g. chronic inflammation, hypogonadism, anemia, insulin resistance) and behavioral (e.g. anorexia, inactivity) changes that can compound to accelerate muscle mass and body weight loss. While several inflammatory cytokines are associated with cachexia’s disease progression, our laboratory has established that Interleukin-6 (IL-6) is a key regulator …

The Impacts Of Episodic Floods, Droughts, Turbidites On Organic Carbon Burial Over The Past 2,000 Years In The Santa Barbara Basin, California, Caitlyn Sarno

Theses and Dissertations

Over the past several millennia, Southern California has experienced episodic climate that have influenced the magnitude and composition of terrestrial and marine material that ultimately reaches ocean sediments. Here, we analyze elemental concentrations, stable isotopes, and n-alkane lipids as tracers of terrestrial and marine sources in drought, turbidite, and flood horizons from a well-dated sediment core in the Santa Barbara Basin (SBB) that spans the last 2,000 years. Stable isotopes (δ13C and δ15N), indicate that more terrestrial organic carbon (OC) input occurred during floods relative to non-event periods, while bulk C/N ratios remained relatively constant (~10). Long chain n-alkanes, (C27, …

Synthetic Lectins, A Diagnostic And Prognostic Tool For Detecting Glycans In Breast Cancer, Daniel James Gordon

Theses and Dissertations

Cancer diagnostic tools have been pushed to the forefront of medical research because a person’s chance of survival is directly correlated with how early the tumor is identified and treatment is begun. In searching for the subtle differences between healthy and tumor cells, almost every type of cancer has been shown to under, over, or neo express glycans, and these changes in the glycan fingerprint can continue as the disease progresses. This provides a powerful diagnostic opportunity that’s works by screening for glycoproteins and glycosylation patterns that deviate from normal cells.

Boronic acids have a useful and tunable property in …

Characterizing Aft1/2-Grx3/4 Interaction And The Role Of Bol2 During Iron Regulation In Saccharomyces Cerevisiae, William Rivers

Senior Theses

Iron dysregulation has been linked to a variety of human diseases, such as anemia, Friedreich’s ataxia, X-linked sideroblastic anemia, sideroblastic-like microcytic anemia, and myopathy. Thus, it is vitally important to understand the mechanisms for regulating intracellular iron. Here, we use fluorescence microscopy techniques in live cells to study interactions of the yeast proteins Grx3/4, Aft1/2, and Bol2, which have been shown to be involved in turning off iron import when the cell has adequate iron. Modified versions of genes encoding these proteins have been incorporated into several yeast backgrounds to use fluorescence to monitor interactions under varying iron levels.

The Role Of Ash1l During Human Neurodevelopment, Anna Bagnell

Senior Theses

Autism spectrum disorders (ASD) are associated with defects in neuronal connectivity and are highly heritable. A significant proportion of ASD cases are of complex genetic etiology; complexity which might reflect the impact of gene-environment interactions. However, there is a gap in our understanding of the mechanisms that underlie the gene-environment interaction in autism complex etiology. Genome wide association studies in large ASD cohorts identified high risk variants associated with autism in genes that regulate histone modifications and remodel chromatin. These findings highlight the relevance of chromatin regulatory mechanisms in the pathology of ASD. Changes in Histone H3 methylation have been …

Sonification Of Epigenetic Processes, Joelle Strom

Senior Theses

Sonification is the process of creating sound or music from data for investigative or aesthetic purposes. Data sonification has been used in multiple fields to provide an additional layer of analysis to datasets, engage general audiences in a scientific topic, or create an evocative musical piece. Sonification has been extended to biological subjects, including macromolecules such as protein and DNA. Epigenetics, the processes by which gene expression is regulated, is a burgeoning field of molecular biology research. Epigenetic processes have been scarcely sonified, and the process of sonifying DNA base methylation has never been published. DNA methylation is an integral …

Ultra-Strong Long-Chain Polyamide Elastomers With Programmable Supramolecular Interactions And Oriented Crystalline Microstructures, Lingzhi Song, Tianyu Zhu, Liang Yuan, Jiangjun Zhou, Yaqiong Zhang, Zhongkai Wang, Chuanbing Tang

Faculty Publications

Polyamides are one of the most important polymers. Long-chain aliphatic polyamides could bridge the gap between traditional polyamides and polyethylenes. Here we report an approach to preparing sustainable ultra-strong elastomers from biomass-derived long-chain polyamides by thiol-ene addition copolymerization with diamide diene monomers. The pendant polar hydroxyl and non-polar butyrate groups between amides allow controlled programming of supramolecular hydrogen bonding and facile tuning of crystallization of polymer chains. The presence of thioether groups on the main chain can further induce metal–ligand coordination (cuprous-thioether). Unidirectional step-cycle tensile deformation has been applied to these polyamides and significantly enhances tensile strength to over 210 …

Group-Based Physical Activity Trajectories In Children Transitioning From Elementary To High School, Russell R. Pate, Michaela A. Schenkelberg, Marsha Dowda, Kerry L. Mciver

Faculty Publications

Background

Physical activity has been observed repeatedly to decline as children transition into adolescence; however, few studies have explored the possibility that sub-groups of children experience unique patterns of change during this transition. The purpose of this longitudinal study was to examine the physical activity trajectories in clusters of youth transitioning from 5th to 11th grade.

Methods

Participants (n = 652) were recruited as 5th graders (ages 10–12 years) from elementary schools (n = 21) in two school districts. Demographic, anthropometric, and physical activity data were collected once per year when children were in 5th, 6th, 7th, 9th, and 11th …

Complex Gene Loss And Duplication Events Have Facilitated The Evolution Of Multiple Loricrin Genes In Diverse Bird Species, Anthony C. Davis, Matthew J. Greenwold, Roger H. Sawyer

Faculty Publications

The evolution of a mechanically resilient epidermis was a key adaptation in the transition of amniotes to a fully terrestrial lifestyle. Skin appendages usually form via a specialized type of programmed cell death known as cornification which is characterized by the formation of an insoluble cornified envelope (CE). Many of the substrates of cornification are encoded by linked genes located at a conserved genetic locus known as the epidermal differentiation complex (EDC). Loricrin is the main protein component of the mammalian CE and is encoded for by a gene located within the EDC. Recently, genes resembling mammalian loricrin, along with …

Table Of Contents

Journal of the South Carolina Academy of Science

No abstract provided.

Chemical Alternatives For Managing Key Stored Product Insects, Rizana M. Mahroof

Journal of the South Carolina Academy of Science

In this short review paper, possible alternatives to manage some key stored product insects pests are discussed. With the phase out of methyl bromide and insects developing resistance to phosphine, fumigants available to manage stored product insects are becoming limited. Potential non-chemical alternatives, those are environmentally benign and do not leave harmful residues on treated products are most favoured. Two techniques; sex pheromone based mating disruption and ozone gas, are explored as safer insect management tools in this paper.

A New Multivariate Optical Computing Microelement And Miniature Sensor For Spectroscopic Chemical Sensing In Harsh Environments: Design, Fabrication, And Testing, Christopher M. Jones, Bin Dai, Jimmy Price, Jian Li, Megan Pearl, Bill Soltmann, Michael L. Myrick

Faculty Publications

Multivariate optical computing (MOC) is a compressed sensing technique with the ability to provide accurate spectroscopic compositional analysis in a variety of different applications to multiple industries. Indeed, recent developments have demonstrated the successful deployment of MOC sensors in downhole/well-logging environments to interrogate the composition of hydrocarbon and other chemical constituents in oil and gas reservoirs. However, new challenges have necessitated sensors that operate at high temperatures and pressures (up to 230 °C and 138 MPa) as well as even smaller areas that require the miniaturization of their physical footprint. To this end, this paper details the design, fabrication, and …

Exposure Characterization Of Haloacetic Acids In Humans For Exposure And Risk Assessment Applications: An Exploratory Study, Shahid Parvez, Jeffrey L. Ashby, Susana Y. Kimura, Susan D. Richardson

Faculty Publications

Disinfected water is the major source of haloacetic acids (HAAs) in humans, but their inter- and intra-individual variability for exposure and risk assessment applications is under-researched. Thus, we measured HAAs in cross-sectional and longitudinal urine and water specimens from 17 individuals. Five regulated HAAs—mono-, di-, and trichloroacetic acid (MCAA, DCAA, and TCAA) and mono- and dibromoacetic acid (MBAA and DBAA)—and one unregulated HAA—bromochloroacetic acid (BCAA)—were measured. Urinary DCAA, MBAA, DBAA, and BCAA levels were always below the limits of detection (LOD). Measured levels and interindividual variability of urinary MCAA were higher than urinary TCAA. Longitudinal urinary specimens showed MCAA levels …

Exposure To Environmental Radionuclides Associates With Tissue-Specific Impacts On Telomerase Expression And Telomere Length, Jenni Kesaniemi, Anton Lavrinienko, Eugene Tukalenko, Zbyszek Boratynski, Kati Kivisaari, Tapio Mappes, Gennadi Milinevsky, Anders Pape Moller, Timothy A. Mousseau, Phillip C. Watts

Faculty Publications

Telomeres, the protective structures at the ends of chromosomes, can be shortened when individuals are exposed to stress. In some species, the enzyme telomerase is expressed in adult somatic tissues, and potentially protects or lengthens telomeres. Telomeres can be damaged by ionizing radiation and oxidative stress, although the effect of chronic exposure to elevated levels of radiation on telomere maintenance is unknown for natural populations. We quantified telomerase expression and telomere length (TL) in different tissues of the bank vole Myodes glareolus, collected from the Chernobyl Exclusion Zone, an environment heterogeneously contaminated with radionuclides, and from uncontaminated control sites …

The Effect Of Nonassociative Learning On Oxidative Stress In Caenorhabditis Elegans: A Potential Application For Alzheimer’S Disease Research, Gillian Patton

Journal of the South Carolina Academy of Science

Alzheimer’s disease results in learning and memory deficits due to toxic changes in the brain caused by amyloid-β plaques and oxidative stress. Oxidative stress is caused by the overproduction of free radicals, which are uncharged molecules containing an unpaired valence electron. Nonassociative learning is a type of cognitive processing that only uses one stimulus instead of two related stimuli. Cognitive processing promotes neural growth and learning, while Alzheimer’s inhibits it. The purpose of this study was to test how nonassociative learning impacts oxidative stress and thus, if it might be considered as a potential treatment option for Alzheimer’s disease. It …

The Effect Of Hordeum Vulgare, Rice Hull, And Oak Leaf Litter On The Prevalence Of Microcystis, Sreya Varanasi

Journal of the South Carolina Academy of Science

Cyanobacterial harmful algal blooms are becoming more prevalent issues throughout the world, threatening ecosystems, posing risks to human health, and resulting in millions of dollars in economic damage. Conventionally, treatment approaches have been chemical or physical, but these are harmful to aquatic life or inefficient, respectively, which presents the biological approach as a favorable alternative. To assess the effects of low-effort and cost-effective treatments, Hordeum vulgare, rice hull, and oak leaf litter were individually applied to Microcystis cultures and compared to two negative controls (Microcystis alone and cotton on Microcystis) and a positive control (CuSO₄). …