Open Access. Powered by Scholars. Published by Universities.®

Public Health Commons

Open Access. Powered by Scholars. Published by Universities.®

The Texas Medical Center Library

Discipline
Keyword
Publication Year
Publication
Publication Type

Articles 3751 - 3780 of 3923

Full-Text Articles in Public Health

Alternative Tobacco Products & Depressive Symptoms Among Young Adults, David Marsden Dec 2018

Alternative Tobacco Products & Depressive Symptoms Among Young Adults, David Marsden

Dissertations and Theses (Open Access)

The association between cigarette use and depression has been documented in many studies. Fewer studies have examined other tobacco products such as electronic cigarettes (e-cigarettes) and hookah that are used by young adults. This study examined whether increased frequency of use of these products was associated with depressive symptoms in a cohort of n=5,236 Texas college students followed from 2014 to 2017. A hierarchical model showed that increased frequency of single product use of cigarettes, refillable e-cigarettes and hookah was associated with depressive symptoms. Refillable and disposable e-cigarettes were examined separately and results did not provide evidence of a different …


Investigation Of Hantavirus And Leptospira As Possible Contributing Factors Of The Unexplained Kidney Disease Epidemic In Nicaragua, Nicole J. Delgado Dec 2018

Investigation Of Hantavirus And Leptospira As Possible Contributing Factors Of The Unexplained Kidney Disease Epidemic In Nicaragua, Nicole J. Delgado

Dissertations and Theses (Open Access)

Throughout Latin America, an epidemic of a kidney disease of an unknown etiology has been occurring since the late 1990s, and this disease is being called “Mesoamerican nephropathy.” Mesoamerican nephropathy predominantly affects male sugarcane workers. In Chichigalpa, Chinandega, Nicaragua, there is sugarcane plantation that is being heavily impacted by the Mesoamerican nephropathy epidemic, and they invited researchers from Baylor College of Medicine to investigate the epidemic. The prospective epidemic investigation began in 2015, and it is an ongoing investigation. Based on the compilation of data collected during the preliminary investigation, our hypothesis is that a possible zoonotic disease, such as …


Effects Of Extreme Precipitation On Gastrointesitnal Related Hospital Admissions In Texas, Sharmila Giri Dec 2018

Effects Of Extreme Precipitation On Gastrointesitnal Related Hospital Admissions In Texas, Sharmila Giri

Dissertations and Theses (Open Access)

Extreme precipitation has been implicated in more than 51% of the waterborne disease outbreaks in the United States between 1948-1994. With increased incidence of extreme precipitation projected to be more likely due to ongoing climate change, the burden of waterborne disease is expected to rise even in the United States where drinking water is considered to be one of the safest in the world. In this study we aim to quantify the risk of extreme precipitation on gastrointestinal (GI) related hospital admissions by using meteorological and emergency hospital data from twelve major metropolitan statistical areas (MSA) of Texas from year …


Assessment And Findings Of The Vulnerability Index (Vi-Spdat) Survey Of Individuals Experiencing Homelessness In Travis County, Tx, Benjamin T. King Dec 2018

Assessment And Findings Of The Vulnerability Index (Vi-Spdat) Survey Of Individuals Experiencing Homelessness In Travis County, Tx, Benjamin T. King

Dissertations and Theses (Open Access)

Homelessness is a significant barrier to the quality of an individual’s health. Federal housing interventions attempt to eliminate homelessness by providing varying degrees of subsidization, but available units do not currently keep pace with the scale of the problem. Coordinated Assessment is a process requirement put in place by HUD to organize and prioritize the waiting list for housing, based on community priorities. Several tools measuring health and social vulnerability, including the Vulnerability Index-Service Prioritization Decision Assistance Tool (VI-SPDAT), have become popular options for prioritizing housing resources. Such assessments currently in use are not thoroughly researched and the effects of …


Exposure To Ambient Air Pollution And Fetal Death In Harris County, Texas, Amal Rammah Dec 2018

Exposure To Ambient Air Pollution And Fetal Death In Harris County, Texas, Amal Rammah

Dissertations and Theses (Open Access)

The evidence from studies of maternal ambient air pollutant exposure (including O3, fine particulate matter (PM2.5) and PM2.5 metal constituents) and stillbirth is limited and equivocal. There is also limited evidence of the acute effect of temperature increases in the week preceding delivery and stillbirth. In the first investigation of ambient air pollution, temperature and stillbirth among a large cohort of women in Harris County, Texas, we obtained birth and fetal death records from 2008-2013 and estimated weekly residential levels of apparent temperature and ozone (O3), fine particulate matter (PM2.5), nitrogen dioxide (NO2) and PM2.5 metals from the local monitoring …


Examining The Effect Of Service Delivery Factors On Timely Initiation Of Tuberculosis Treatment Within Primary Care Settings In Uganda, Michael Juma Dec 2018

Examining The Effect Of Service Delivery Factors On Timely Initiation Of Tuberculosis Treatment Within Primary Care Settings In Uganda, Michael Juma

Dissertations and Theses (Open Access)

Background: Timeliness of Tuberculosis (TB) treatment is critical to stopping its transmission and preventing disease complications and death. Efficiency in identifying and treating presumptive TB cases is critical to reducing delays.

Aims: We determined the association between health service-related factors and delays in initiating TB treatment within primary care settings in Uganda. Perspectives of healthcare workers on practices underlying healthcare facility level delays were also described.

Methods: A mixed methods study was conducted based on facility-register records of 1199 treated TB cases and key informant interviews with 27 outpatient staffs. Health service-related factors (size, ownership, number of …


Does Space Matter? An Investigation Of The Spatial Variation In Gestational Weight Gain Associations With Country Of Birth Among Hispanic Women And Access To Care In Texas, Christopher R. Webb Dec 2018

Does Space Matter? An Investigation Of The Spatial Variation In Gestational Weight Gain Associations With Country Of Birth Among Hispanic Women And Access To Care In Texas, Christopher R. Webb

Dissertations and Theses (Open Access)

Inadequate and excess gestational weight gain (GWG) are serious, but potentially preventable adverse pregnancy outcomes which affect as many as two-thirds of pregnant women in the United States. While location and space are associated with a variety of pregnancy outcomes, limited research has investigated potential spatial variation in GWG. The goal of this research is to improve the knowledge of how spatial geography is associated with GWG through secondary analyses of 70,000 to 160,000 birth certificate registry records for Texas mothers with a live birth delivery in 2014. Specifically, this research attempts to assess whether access to obstetrics and gynecologist …


Adverse Childhood Experiences, Depression, And Resilience In African-American Adolescents, Jamie C. Freeny Dec 2018

Adverse Childhood Experiences, Depression, And Resilience In African-American Adolescents, Jamie C. Freeny

Dissertations and Theses (Open Access)

Research shows that exposure to adverse childhood experiences (ACEs) is common among adolescents; however, no studies have examined the prevalence of ACEs in a racially homogenous sample of African-American adolescents. Thus, the present study examined the cumulative and individual prevalence of ACEs in African-American adolescents. Data were collected from African-American adolescents (n = 241) who attended youth events hosted by churches in Houston, TX. An expanded ACEs tool was used to collect data. ACE scores were summed and dichotomized to 0-3 ACEs versus 4-19 ACEs because a score of four or more indicates a higher risk for adverse mental and …


Factors Associated With Civilian And Police Officer Injury During 10 Years Of Officer-Involved Shooting Incidents: A Cross-Sectional Analysis, Ellen Paddock Dec 2018

Factors Associated With Civilian And Police Officer Injury During 10 Years Of Officer-Involved Shooting Incidents: A Cross-Sectional Analysis, Ellen Paddock

Dissertations and Theses (Open Access)

Purpose. Law enforcement officer-involved shootings are uncommon events in the context of encounters with the public, but extreme situations which have the potential to pose immense harm to individuals and communities. Previous research demonstrates that a large proportion of such incidents result in injury or death, most commonly to civilians, but in some cases to officers as well. However, there has been little study of what factors are associated with injury during such incidents, and whether these factors might differ for civilians compared to officers. This study examined the factors associated with both civilian and officer injury and/or fatality during …


Development And Usability Testing Of Quit4health, A Smoking Cessation Smartphone App For Young Adults, Katarzyna Czerniak Dec 2018

Development And Usability Testing Of Quit4health, A Smoking Cessation Smartphone App For Young Adults, Katarzyna Czerniak

Dissertations and Theses (Open Access)

Tobacco use is the leading cause of death in the United States. As of 2016, 23.5% of American 18-25 year olds reported having used cigarettes in the last month compared to 20.2% of adults and only 3.4% of adolescents. Due to the efficacy and widespread general use of mobile technology today, mobile-phone health, or mHealth apps, have become increasingly popular methods of delivering smoking cessation programs. However, there is a lack of evidence in regards to the quality and the effectiveness of using mHealth to deliver smoking cessation interventions to young adults. This study aims to fill this gap to …


Hours Of Gaming Or Non-Academic Computer Use, Substance Use, Mental Health Status And School Performance Among Texas Adolescence: Findings From The 2017 Yrbs In Texas, Shanxiazi Gao Dec 2018

Hours Of Gaming Or Non-Academic Computer Use, Substance Use, Mental Health Status And School Performance Among Texas Adolescence: Findings From The 2017 Yrbs In Texas, Shanxiazi Gao

Dissertations and Theses (Open Access)

Online gaming activities among adolescents and adults has increased exponentially in the last decade, and mental health issues associated with excessive gaming have drawn attention from health care professionals worldwide (Griffith, 2016). Recognizing this trend, American Psychiatric Association (APA) categorized gaming disorder/addiction as a mental health condition in 2013 in an effort to prevent the expansion of relevant mental health issues (American Psychiatric Association, 2013). Additionally, the World Health Organization (WHO) declared gaming disorder/addiction as a mental health disease, (World Health Organization, 2018). As a result of this declaration, Diagnostic and Statistical Manual of Mental Disorders (DSM-5) has established nine …


How Participatory Are We? A Systematic Review Comparing Women’S Participation In Participatory Action Research, Community Based Participatory Research And Participatory Learning In Action, Magdalene Hakala-Hartman Dec 2018

How Participatory Are We? A Systematic Review Comparing Women’S Participation In Participatory Action Research, Community Based Participatory Research And Participatory Learning In Action, Magdalene Hakala-Hartman

Dissertations and Theses (Open Access)

Objective. This systematic review compares the extent of participation of women in maternal and child health and healthy living-type research projects based on three participatory research frameworks, Participatory Action Research (PAR), Community Based Participatory Research (CBPR), and Participatory Learning in Action (PLA), by examining roles, tasks, engagement, and the duration and complexity of their participation- as guided by the Community Engagement in Research Index (CERI). The review analyzed differences in underlying structure of the studies connected to their theoretical underpinnings. Methods. Ovid Medline, PubMed, EBSCO, CINAHL, Embase, Scopus, and Academic Search Complete were searched for studies published 2009 – 2018. …


Quantifying The Impact Of Laboratory And Care Systems On Relinkage To Hiv Care In A Southern, Urban Environment, Kellie L. Watkins Dec 2018

Quantifying The Impact Of Laboratory And Care Systems On Relinkage To Hiv Care In A Southern, Urban Environment, Kellie L. Watkins

Dissertations and Theses (Open Access)

Background: HIV viral suppression reduces the likelihood of transmission to just 5%,1 demonstrating the critical link between care and prevention, yet only 51% of people living with HIV (PLWH) were retained in care and 46% achieved viral suppression in the Houston area (2012), with the out-of-care (OOC) population increasing between 2008-2011.2,3

Methods: Record-search investigations across HIV surveillance and care data systems determined if potentially OOC persons referred to the Houston Health Department (HHD) from 2013-2015 (N=1287) qualified for public health follow up. A portion were randomized to a non-intervention group (n=200) to assess the program effectiveness. Participants without a disposition …


Sociodemographic Determinants Of Mental Health Outcomes Among Unhealthy Weight Youth In The United States, Chenchita Malolan Dec 2018

Sociodemographic Determinants Of Mental Health Outcomes Among Unhealthy Weight Youth In The United States, Chenchita Malolan

Dissertations and Theses (Open Access)

Background

The prevalence of unhealthy weight (defined as a body mass index ≥ 85th %ile for age and sex) among children and adolescents in the United States remains unacceptably high. In parallel, the prevalence of mental health issues in youth is rising as well. Current research shows a strong association between overweight/obesity and poor mental health outcomes. Specifically, youth of unhealthy weight have higher rates of anxiety and depression. The objective of this study is to evaluate the specific the current (2016-17) population-level prevalence of unhealthy weight, mental health issues and the sociodemographic (e.g. sex, age, race, ethnicity, household income) …


A Secondary Data Analysis For The Refinement Of Empirical Modelling For The Estimation Of Environmental Health & Safety Program Resourcing For Colleges And Universities, Seth Michael Parker Dec 2018

A Secondary Data Analysis For The Refinement Of Empirical Modelling For The Estimation Of Environmental Health & Safety Program Resourcing For Colleges And Universities, Seth Michael Parker

Dissertations and Theses (Open Access)

The use of potentially hazardous physical, chemical, biological, and radiological agents is inherent to the teaching, research, and services missions of any university. To manage the risks associated with these agents, it is common for universities to host environmental health & safety (EH&S) programs to protect the safety of the institution’s students, faculty, staff, and visitors. However, since EH&S programs in universities are primarily focused on prevention, it is difficult to estimate the appropriate “industry average” in terms of budget and staffing resources a particular university needs for such programs. Historically, the Campus Safety, Health, and Environmental Management Association (CSHEMA) …


Exome Sequencing Identifies Gene Variants And Networks Associated With Extreme Respiratory Outcomes Following Preterm Birth, Aaron Hamvas, Rui Feng, Yingtao Bi, Fan Wang, Soumyaroop Bhattacharya, Jared Mereness, Madhurima Kaushal, C Michael Cotten, Philip L Ballard, Thomas J Mariani Oct 2018

Exome Sequencing Identifies Gene Variants And Networks Associated With Extreme Respiratory Outcomes Following Preterm Birth, Aaron Hamvas, Rui Feng, Yingtao Bi, Fan Wang, Soumyaroop Bhattacharya, Jared Mereness, Madhurima Kaushal, C Michael Cotten, Philip L Ballard, Thomas J Mariani

Faculty, Staff and Student Publications

BACKGROUND: Previous studies have identified genetic variants associated with bronchopulmonary dysplasia (BPD) in extremely preterm infants. However, findings with genome-wide significance have been rare, and not replicated. We hypothesized that whole exome sequencing (WES) of premature subjects with extremely divergent phenotypic outcomes could facilitate the identification of genetic variants or gene networks contributing disease risk.

RESULTS: The Prematurity and Respiratory Outcomes Program (PROP) recruited a cohort of > 765 extremely preterm infants for the identification of markers of respiratory morbidity. We completed WES on 146 PROP subjects (85 affected, 61 unaffected) representing extreme phenotypes of early respiratory morbidity. We tested for …


Identification Of Tissue And Circulating Biomarkers For Premalignant And Malignant Lesions, Shu-Hong Lin May 2018

Identification Of Tissue And Circulating Biomarkers For Premalignant And Malignant Lesions, Shu-Hong Lin

Dissertations and Theses (Open Access)

Recent advancement in technologies including next-generation sequencing and production-scale throughput qPCR have revolutionized the identification of biomarkers in the epidemiology field. In response to the vast amount of data generated from high-throughput technologies, novel inventions in the computer sciences fields have been applied to analyze these data. The current study demonstrates the application of such technologies in a variety of scenarios.

I first described how targeted and whole-exome sequencing were used to identify somatic mutations which marked the differences between colorectal adenomas and adenocarcinomas. A statistical test based on the unique clustering pattern of tumor suppressor genes and oncogenes was …


Public Hospitals Matter, Herbert L Fred Apr 2018

Public Hospitals Matter, Herbert L Fred

The Texas Heart Institute Journal

Recent events in this country pose major concerns. Police shoot unarmed blacks, gun-wielding malcontents ambush policemen, white supremacists march, gays are murdered, gender inequality pervades our workforce, and sexual harassment and abuse are surfacing in many segments of our society. In reaction, various social movements have sprung up, including Black Lives Matter, White Lives Matter, Blue Lives (policemen) Matter, Gay Lives Matter, Girls for Gender Equity (GGE), #MeToo, and Time's Up. To that list, I add another battle cry: Public Hospitals Matter.


Using The Literature To Identify Confounders, Scott Malec Jan 2018

Using The Literature To Identify Confounders, Scott Malec

Dissertations and Theses (Open Access)

Prior work in causal modeling has focused primarily on learning graph structures and parameters to model data generating processes from observational or experimental data, while the focus of the literature-based discovery paradigm was to identify novel therapeutic hypotheses in publicly available knowledge. The critical contribution of this dissertation is to refashion the literature-based discovery paradigm as a means to populate causal models with relevant covariates to abet causal inference. In particular, this dissertation describes a generalizable framework for mapping from causal propositions in the literature to subgraphs populated by instantiated variables that reflect observational data. The observational data are those …


Genetic Epidemiology Of Neural Tube Defects, Philip J Lupo, A J Agopian, Heidi Castillo, Jonathan Castillo, Gerald H Clayton, Nienke P Dosa, Betsy Hopson, David B Joseph, Brandon G Rocque, William O Walker, John S Wiener, Laura E Mitchell Dec 2017

Genetic Epidemiology Of Neural Tube Defects, Philip J Lupo, A J Agopian, Heidi Castillo, Jonathan Castillo, Gerald H Clayton, Nienke P Dosa, Betsy Hopson, David B Joseph, Brandon G Rocque, William O Walker, John S Wiener, Laura E Mitchell

Faculty, Staff and Student Publications

It has been estimated that 60-70% of neural tube defects (NTDs) have a genetic component, but few causative genes have been identified. The lack of information on genes associated with non-syndromic NTDs in humans is especially notable as the "genomic revolution" has led to new tools (e.g., genome-wide genotyping arrays, next-generation sequencing) that are helping to elucidate the full spectrum of genetic variation (from common to rare) contributing to complex traits, including structural birth defects. However, the application of modern genomic approaches to the study of NTDs has lagged behind that of some other common structural birth defects. This may …


Quality Of Life: Socio-Demographic And Genetic Determinants As Well As Links With Cancer Outcomes, Jeanne Pierzynski Dec 2017

Quality Of Life: Socio-Demographic And Genetic Determinants As Well As Links With Cancer Outcomes, Jeanne Pierzynski

Dissertations and Theses (Open Access)

Quality of life (QOL) is an independent prognostic factor for cancer. Lung cancer is the leading cause of cancer death. Breast cancer is the most diagnosed. Bladder cancer is the most expensive cancer to treat because of its high recurrence rate. We set to perform comprehensive analyses of predictors of QOL in these cancer sites with the future goal of improving QOL and outcomes.

In 6,456 newly diagnosed lung cancer patients, we investigated the relationship between baseline patient characteristics and QOL to identify determinants of QOL. A QOL questionnaire (SF-12v1) measured patients’ physical component summary (PCS) and mental component summary …


Integrating Behavioral Trigger Messages Into A Mhealth System Design For Chronic Disease Management, Scott Sittig Jan 2017

Integrating Behavioral Trigger Messages Into A Mhealth System Design For Chronic Disease Management, Scott Sittig

Dissertations and Theses (Open Access)

Recent changes in health information technology have dramatically altered the face, delivery, and management of healthcare particularly as it relates to mHealth. With increases in smart phone ownership, mHealth potentially has the ability to provide far-reaching transformation of chronic disease management particularly when aligned with behavioral change theories and persuasive technology. MHealth applications have an advantage over computers and various print communications as the consumer can engage with the application at any time and at any location. The Interactive Health Communication Application (IHCA) states that by combining support mechanisms such as behavior change theories into electronic devices as a method …


Influence Of Maternal Breast Milk Ingestion On Acquisition Of The Intestinal Microbiome In Preterm Infants, Katherine E Gregory, Buck S Samuel, Pearl Houghteling, Guru Shan, Frederick M Ausubel, Ruslan I Sadreyev, W Allan Walker Dec 2016

Influence Of Maternal Breast Milk Ingestion On Acquisition Of The Intestinal Microbiome In Preterm Infants, Katherine E Gregory, Buck S Samuel, Pearl Houghteling, Guru Shan, Frederick M Ausubel, Ruslan I Sadreyev, W Allan Walker

Faculty, Staff and Students Publications

BACKGROUND: The initial acquisition and early development of the intestinal microbiome during infancy are important to human health across the lifespan. Mode of birth, antibiotic administration, environment of care, and nutrition have all been shown to play a role in the assembly of the intestinal microbiome during early life. For preterm infants, who are disproportionately at risk of inflammatory intestinal disease (i.e., necrotizing enterocolitis), a unique set of clinical factors influence the establishment of the microbiome. The purpose of this study was to establish the influence of nutritional exposures on the intestinal microbiome in a cohort of preterm infants early …


Influences On Self-Care In Women With Heart Failure: A Pilot Study, Joy Corcione Aug 2016

Influences On Self-Care In Women With Heart Failure: A Pilot Study, Joy Corcione

Dissertations and Theses (Open Access)

Background: Heart Failure self-care becomes exceedingly difficult to perform as the disease progresses; therefore social support becomes important in facilitating heart failure self-care. Woman with heart failure represent a significant and growing vulnerable population. Women tend to have lower self-confidence in providing self-care, experience greater negative emotions, decreased social support, experience more adverse psychosocial factors affecting self-care and experience greater psychosocial adversity than do men. Self-care is vital in managing heart failure and social support greatly facilitates self-care behaviors.

Purpose: The purpose of this pilot study was to gain a deeper understanding about the sources of perceived social support and …


Clinical And Demographic Variables Associated With Cognitive Deficits, Symptom Severity, And Duration After Concussive Injury In Adolescents: A Retrospective Study, Seema S. Aggarwal May 2016

Clinical And Demographic Variables Associated With Cognitive Deficits, Symptom Severity, And Duration After Concussive Injury In Adolescents: A Retrospective Study, Seema S. Aggarwal

Dissertations and Theses (Open Access)

Background: Concussions in adolescents are a public health concern with the growing popularity of high school sports. Recent legislation mandates that athletes who are suspected of a concussion be cleared to return-to-play by a clinician. More research is needed to develop a concussion predictive model to identify populations at risk for more severe and prolonged symptoms and long-term neurologic deficits.

Aims: The aims of this study were to (1) examine the effect of race and gender on neurocognitive and symptom scores and (2) determine which clinical (e.g., number of concussions, migraine history, learning disabilities/ attention deficit disorders) and demographic factors …


Nutritional Status And Tuberculosis Risk In Adult And Pediatric Household Contacts, Omowunmi Aibana, Xeno Acharya, Chuan-Chin Huang, Mercedes C Becerra, Jerome T Galea, Silvia S Chiang, Carmen Contreras, Roger Calderon, Rosa Yataco, Gustavo E Velásquez, Karen Tintaya, Judith Jimenez, Leonid Lecca, Megan B Murray Jan 2016

Nutritional Status And Tuberculosis Risk In Adult And Pediatric Household Contacts, Omowunmi Aibana, Xeno Acharya, Chuan-Chin Huang, Mercedes C Becerra, Jerome T Galea, Silvia S Chiang, Carmen Contreras, Roger Calderon, Rosa Yataco, Gustavo E Velásquez, Karen Tintaya, Judith Jimenez, Leonid Lecca, Megan B Murray

Faculty, Staff and Student Publications

BACKGROUND: Studies show obesity decreases risk of tuberculosis (TB) disease. There is limited evidence on whether high body mass index also protects against TB infection; how very high body mass indices influence TB risk; or whether nutritional status predicts this risk in children. We assessed the impact of body mass index on incident TB infection and disease among adults and children.

METHODS AND FINDINGS: We conducted a prospective cohort study among household contacts of pulmonary TB cases in Lima, Peru. We determined body mass index at baseline and followed participants for one year for TB infection and disease. We used …


Stem Cell Banking: An Update On Current Scenario, Harshal Deshpande, Sreelatha Akkala, Suman Rasquinha, Smita Karpate Sep 2015

Stem Cell Banking: An Update On Current Scenario, Harshal Deshpande, Sreelatha Akkala, Suman Rasquinha, Smita Karpate

Faculty, Staff and Student Publications

The emerging medical science coupled with biotechnological innovations is paving way for an exciting science - stem cell research. The researchers in the area of stem cell banking are exploiting the factual impending market worldwide. The possible clinical application of stem cells has generated great curiosity amongst medical professionals and general public. No only this, but stem cell research can be used for the treatment of widespread diseases like diabetes, Parkinson's disease, severe aplastic anemia, leukeamias, etc. The present article highlights the historical perspective about the stem cell banking along with an overview of global scenario of stem cell banking …


Detection Of Genes Influencing Chronic And Mendelian Disease Via Loss-Of-Function Variation, Alexander H. Li Aug 2015

Detection Of Genes Influencing Chronic And Mendelian Disease Via Loss-Of-Function Variation, Alexander H. Li

Dissertations and Theses (Open Access)

A typical human exome harbors dozens of loss-of-function (LOF) variants predicted to severely disrupt or abolish gene function. These variants are enriched at the extremely rare end of the allele frequency spectrum (< 0.1%), suggesting purifying selection against these sites. However, most previous population-based sequencing studies have not included analysis of genotype-phenotype relationships with LOF variants. Thus, the contribution of LOF variation to health and disease within the general population remains largely uncharacterized.

Using whole exome sequence from 8,554 participants in the Atherosclerosis Risk in Communities (ARIC) study, we explored the impact of LOF variation on a broad spectrum of human phenotypes. First, we selected 20 common chronic disease risk factor phenotypes and performed gene-based association tests. Analysis of this sample verified two relationships in well-studied genes (PCSK9 and APOC3) and identified eight new loci. Novel relationships included …


Genetics Of Obesity In Starr County, Texas Mexican Americans, Heather M. Highland May 2015

Genetics Of Obesity In Starr County, Texas Mexican Americans, Heather M. Highland

Dissertations and Theses (Open Access)

Currently, over two-thirds of Americans are classified as over-weight or obese. Obesity increases risk for many other diseases including type 2 diabetes, heart disease, stroke, and cancer, making obesity the largest public health problem in America and most other Westernized nations. Hispanics have a higher rate of both obesity and type 2 diabetes, making them a particularly interesting population in which to study obesity. For the last 33 years, the Starr County Health Studies has collected an array of phenotypes and biological samples from residents of Starr County, along Texas-Mexico border. This study includes 825 subjects who were not known …


Texas Physicians' Awareness And Utilization Of Genetic Services, Callie L. Jenevein May 2015

Texas Physicians' Awareness And Utilization Of Genetic Services, Callie L. Jenevein

Dissertations and Theses (Open Access)

The number of disorders for which genetic testing is available has increased nearly 500% in the past 15 years. Access to the majority of genetic tests and services hinges on physicians’ ability to identify patients at risk for genetic disease and provide appropriate testing and counseling or refer to genetic specialists. Recent research demonstrates the need for referrals to genetic specialists by showing that many physicians lack skills required to perform appropriate genetic services, such as making proper risk assessments, providing genetic counseling, ordering genetic testing and interpreting results. However, little research exists on physicians’ awareness and utilization of genetic …