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Articles 1921 - 1950 of 8643
Full-Text Articles in Medicine and Health Sciences
Efficacy Of Power Training To Improve Physical Function In Individuals Diagnosed With Frailty And Chronic Disease: A Meta-Analysis, Alexander B. Sklivas, Lauren E. Robinson, Timothy L. Uhl, Esther E. Dupont-Versteegden, Kirby P. Mayer
Efficacy Of Power Training To Improve Physical Function In Individuals Diagnosed With Frailty And Chronic Disease: A Meta-Analysis, Alexander B. Sklivas, Lauren E. Robinson, Timothy L. Uhl, Esther E. Dupont-Versteegden, Kirby P. Mayer
Physical Therapy Faculty Publications
Muscle power training with emphasis on high-velocity of concentric movement improves physical functionality in healthy older adults, and, maybe superior to traditional exercise programs. Power training may also be advantageous for patients with acute and chronic illnesses, as well as frail individuals. To determine the efficacy of power training compared with traditional resistance training on physical function outcomes in individuals diagnosed with frailty, acute illness or chronic disease. PubMed (MEDLINE), CINAHL, PEDro, Web of Science, and Google Scholar. (1) at least one study group receives muscle power training of randomized controlled trial (RCT) (2) study participants diagnosed as prefrail, frail …
Bending The Elbow During Shoulder Flexion Facilitates Greater Scapular Upward Rotation And A More Favorable Scapular Muscle Activation Pattern, Alon Rabin, Brakha R. Tabi, Timothy L. Uhl, Zvi Kozol
Bending The Elbow During Shoulder Flexion Facilitates Greater Scapular Upward Rotation And A More Favorable Scapular Muscle Activation Pattern, Alon Rabin, Brakha R. Tabi, Timothy L. Uhl, Zvi Kozol
Physical Therapy Faculty Publications
Context: Decreased scapular upward rotation (UR) and diminished activation of the serratus anterior (SA) and lower trapezius (LT) are often observed among patients with subacromial impingement syndrome. Maintaining the elbow fully flexed during shoulder flexion may limit glenohumeral motion due to passive insufficiency of the triceps brachii and therefore facilitate greater scapular UR and increased scapular muscle activation. Objectives: To compare scapular UR, SA, upper trapezius (UT), middle trapezius, and LT activation levels between shoulder flexion with the elbow extended (Flexion-EE) to shoulder flexion with the elbow fully flexed (Flexion-EF). This study hypothesized that Flexion-EF would result in …
An Investigation Of Hhv6'S Impact On The Cognitive Progression And Microglial Changes In An Alzheimer's Disease Cohort, Charles E. Seaks
An Investigation Of Hhv6'S Impact On The Cognitive Progression And Microglial Changes In An Alzheimer's Disease Cohort, Charles E. Seaks
Theses and Dissertations--Physiology
The role of herpesviruses and, more specifically, HHV6 in the development of Alzheimer’s disease (AD) and associated cognitive decline is still being investigated. High ubiquity and prevalence in the population have led to a high degree of skepticism about HHV6 as a potential contributor to cognitive decline and dementias. However, recent evidence related to another herpesvirus, herpes simplex virus 1, suggests that reactivation, not carriage, of the virus may be the key factor to explain the dissonance between the virus’ ubiquity and contributions to dementias. With that in mind, we set out to assess cases from the Sanders-Brown Center on …
Patient And Therapist Perceptions Of Respiratory Functioning Due To Spinal Cord Injury: Implications For Music Therapists, A'Marie Dotson
Patient And Therapist Perceptions Of Respiratory Functioning Due To Spinal Cord Injury: Implications For Music Therapists, A'Marie Dotson
Theses and Dissertations--Music
Decreased respiratory functioning is a common symptom of spinal cord injury (SCI) and can impact individuals’ personal, professional, and social lives. In spite of this, researchers have not explored the use of music in the lives of individuals with SCIs or music’s role in their healthcare professionals’ treatment plans to improve respiratory functioning. The purpose of this qualitative study was to better understand how decreased respiratory functioning affects individuals with SCIs and healthcare professionals through a multiple case study design. Participants were two individuals with SCIs and three healthcare professionals (physical therapist, recreational therapist, and music therapist) who worked with …
A Plague Of Their Own: Injury Incidence Remains Elevated In The 2021 Major League Baseball Season Compared To Pre-Covid-19 Seasons, Brooks N. Platt, Breanna Sullivan, Shawn Dripchak, Timothy L. Uhl, Aaron Sciascia, William B. Kibler, Austin V. Stone
A Plague Of Their Own: Injury Incidence Remains Elevated In The 2021 Major League Baseball Season Compared To Pre-Covid-19 Seasons, Brooks N. Platt, Breanna Sullivan, Shawn Dripchak, Timothy L. Uhl, Aaron Sciascia, William B. Kibler, Austin V. Stone
Orthopaedic Surgery and Sports Medicine Faculty Publications
Background Significant increases in injuries were observed in the 2020 Major League Baseball (MLB) season; these were attributed to an increased acute to chronic workload due to the interrupted preseason and compressed season during the coronavirus disease of 2019 (COVID-19) pandemic. In 2021, the MLB resumed its regular schedule.
Hypothesis/Purpose The purpose of this study was to determine the injury incidence and epidemiology of the 2021 MLB season compared to the injury incidence in the 2020 season and pre-COVID-19 seasons. The hypothesis was that, with the return to normal preseason training, injury incidence in 2021 would return to pre-COVID-19 rates. …
Autonomous Self-Care: A Means To Mitigate Secondary Traumatic Stress Among Clinical Social Workers, Jessica Byrd
Autonomous Self-Care: A Means To Mitigate Secondary Traumatic Stress Among Clinical Social Workers, Jessica Byrd
DSW Capstone Projects
Secondary traumatic stress (STS) negatively impacts the health of clinical social workers, thus, impairing their ability to provide quality services. The symptoms and consequences of STS have been discussed for decades and the conversation continues because STS is a prevalent and pervasive problem that effects social workers, clients, and organizations. For as long as STS has been recognized as a problem, self-care has been identified as a solution. Yet, clinical social workers underutilize self-care strategies to safeguard their mental, physical, and emotional well-being.
A systematic review of the literature review was conducted to explore, why self-care is underutilized among clinical …
Transforming Hurt Boys Into Restored Men: The Lack Of Mental Health Treatment For Black Male Trauma Survivors, Shericka Danielle Smith
Transforming Hurt Boys Into Restored Men: The Lack Of Mental Health Treatment For Black Male Trauma Survivors, Shericka Danielle Smith
DSW Capstone Projects
Trauma affects individuals differently, but the prevalence of trauma and its impact on Black males is detrimental. Black males are at higher risk for posttraumatic stress disorder (PTSD), depression, substance abuse, and violent crimes when trauma is left untreated by a mental health professional. As the number of traumatic events experienced by Black males continues to rise, the number of these males who seek mental health treatment remains stagnant and painfully low. Many factors play into these behaviors, yet very little data exists on what is being done to change them.
Product one is a systematic literature review in which …
Disparities In Uptake Of The Primary Sars-Cov-2 Vaccine Series In A Southern Indiana Vaccine Clinic, Cassidy Padgett
Disparities In Uptake Of The Primary Sars-Cov-2 Vaccine Series In A Southern Indiana Vaccine Clinic, Cassidy Padgett
Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.)
Objective: COVID-19 is a potentially severe respiratory disease caused by infection from the SARS-CoV-2 virus. COVID-19 was first discovered in 2019 and vaccines against the virus began development in early 2020. COVID-19 vaccines are effective at preventing severe illness, hospitalizations, and death from SARS-CoV-2 infection. Clark Memorial Health is a 236-bed community health system located in southern Indiana. As one of the first four hospitals in the state of Indiana to receive the Pfizer-BioNTech’s COVID-19 vaccine in December of 2020, this health system led the area in vaccine administration. Prior to the emergency use authorization (EUA) of the COVID-19 vaccines, …
Examining The Association Between Cervical Cancer Screenings, Health Care Access, And Socio-Demographics Among Women Of Urban/Rural Status In Kentucky, Madison Penix
Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.)
Background: This study focuses on cervical cancer screening rates (e.g., Pap testing) among women of urban/rural status in Kentucky. Specifically, this study’s primary objective is to examine the association between cervical cancer screening rates and health care access among the women of interest. Secondarily, this study aims to identify which socio-demographic variables impact cervical cancer screening rates and health care access. The purpose of doing so is to better understand what disparities and barriers might be contributing to the suboptimal screening rates observed throughout Kentucky.
Methods: An empirical analysis utilizing secondary data from the 2020 Behavioral Risk Factor Surveillance Survey …
Implementation Of Farmers Markets In Bell County, Kentucky, Rachael Schmetzer
Implementation Of Farmers Markets In Bell County, Kentucky, Rachael Schmetzer
Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.)
This proposal addresses the link between food insecurity and obesity through the implementation of farmers markets in Bell County, Kentucky as a way to increase access and consumption of fruits and vegetables in this rural, low-income community.
Identifying Factors Associated With Syringe Reuse Among People Who Inject Drugs (Pwid) In Appalachia Kentucky, Grayson Keith Fuller
Identifying Factors Associated With Syringe Reuse Among People Who Inject Drugs (Pwid) In Appalachia Kentucky, Grayson Keith Fuller
Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.)
Aim: Syringe reuse contributes to the spread of infectious diseases. The purpose of this study is to identify factors associated with syringe reuse among people who inject drugs (PWID) in Kentucky.
Methods: PWID (n=238) completed interviewer-administered questionnaires to collect data on syringe reuse and demographic, behavioral, and clinical characteristics. Negative log binomial regression was used to model the associations.
Results: On average, people reused each syringe 9.3 times (median: 3; IQR: 2-10, range 1-95). Syringe reuse was higher among men [aOR=1.386; 95% CI: 1.041-1.845] and those who injected methamphetamine [aOR=2.122; 95% CI: 1.445-3.116]. Reuse was also higher among those who …
Effects Of Covid Prevention And Control Policies In Kentucky Schools During The Fall 2020 Semester, Ciaran Allen-Guy
Effects Of Covid Prevention And Control Policies In Kentucky Schools During The Fall 2020 Semester, Ciaran Allen-Guy
Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.)
Schools are reopening or have already reopened while implementing precautions intended to reduce the transmission of COVID-19. However, evidence on the effects of these strategies or their benefits relative to each other in the school environment is indirect or lacking. This study investigated the effects of some of these strategies as employed by Kentucky schools in the fall 2020 semester using a linear mixed effects regression model using publicly available fall 2020 school incidence data, survey data from school staff, and Kentucky Department of Education data on school faculty and primary enrollment.
Increasing Physical Activity Rates Among High School Girls In Jefferson County, Kentucky, Haley Copeland
Increasing Physical Activity Rates Among High School Girls In Jefferson County, Kentucky, Haley Copeland
Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.)
Obesity rates across the U.S. are increasing, especially among adolescent females. Physical activity rates have been associated with obesity and many related health outcomes. Regular physical activity can help adolescents improve their cardiorespiratory fitness, build strong bones, control their weight, and reduce depression 1. It can also help reduce the risk of developing health conditions like heart disease, cancer, high blood pressure, osteoporosis, type II diabetes, and obesity 1. Thus, physical activity among youth provides a risk factor to target, with the intention of eventually decreasing obesity rates.
Recommended physical education class CDC guidelines are not being met …
An Analysis Of The Differences In Health Outcomes And Socioeconomic Factors Between Veteran Smokers And Non-Smokers In Tobacco-Growing States, Jacob Hauser
Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.)
Tobacco usage still remains the single most preventable cause of disease, disability, and death in the United States. Service members and veterans, especially those residing in tobacco-growing states, face higher levels of societal pressure to take up the habit compared to their civilian counterparts. This research investigates why this is the case, the differences in health outcomes, and the differences in socioeconomic factors between the veteran smoking and non-smoking populations before making policy recommendations to policymakers and stakeholders to address this problem.
Covid-19 Mitigation Strategies School Staff In Indiana, Kentucky, And Ohio, Luu Le
Covid-19 Mitigation Strategies School Staff In Indiana, Kentucky, And Ohio, Luu Le
Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.)
Abstract
Background: This cross-sectional study aims to identify the difference in COVID-19 mitigation strategies implementation and adherence among elementary, middle, and high schools in Indiana, Ohio, and Kentucky, based on data from the School Staff Health and Wellness Study research at the University of Kentucky in 2020.
Methods: The sample size of the study was 6,794 participants who work at elementary, middle, or high schools in Indiana, Ohio, and Kentucky. Complete case analyses were performed, which included observation with no missingness in variables (N = 5,971). Descriptive statistics were generated, including a table indicating the implementation of COVID-19 mitigation strategies …
Frequency And Type Of Diabetes Screening Tests In A Sample Of Women With Polycystic Ovarian Syndrome: A Descriptive Study, Jacklyn Vollmer
Frequency And Type Of Diabetes Screening Tests In A Sample Of Women With Polycystic Ovarian Syndrome: A Descriptive Study, Jacklyn Vollmer
Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.)
Introduction: Polycystic ovarian syndrome (PCOS) is a hormonal disorder that affects 6-12% of United States women of reproductive age. Women with PCOS are at an increased risk of developing type 2 diabetes and fall into high-risk groups for screening guidelines put out by the American College of Obstetricians and Gynecologists (ACOG). Guidelines further suggest that an oral glucose tolerance test (OGTT) be used for diabetes screening in women with PCOS as opposed to an A1C or fasting plasma glucose test. The purpose of this study is to examine rates and type of diabetes screening used among a sample of women …
An Analysis Of The Association Between Cognitive Decline And Geographic Residence Among Women Over 65 In The Southeastern United States, Christine Invergo
An Analysis Of The Association Between Cognitive Decline And Geographic Residence Among Women Over 65 In The Southeastern United States, Christine Invergo
Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.)
Abstract
Introduction: The United States is an increasingly aging nation, and aging increases the risk of cognitive decline. Information on the relationship between cognitive decline and geographic residence in the U.S. is limited. Available evidence suggests that rural residents tend to suffer persistent disadvantages in cognitive functioning when compared to sociodemographically similar urban peers. This analysis focused on women over 65 years of age living in the southeastern U.S. The primary objective of this analysis was to determine if there was a significant association between geographic residence and cognitive decline. A secondary objective was to explore variables of interest that …
An Analysis Of Rural-Urban Differences In Health Care Access Among Women In The United States, Ellery Denny
An Analysis Of Rural-Urban Differences In Health Care Access Among Women In The United States, Ellery Denny
Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.)
The purpose of this project was to examine the relationship between women’s health care access and rural and urban America. Extensive review of existing literature was completed and showed that the United States ranked last out of 11 high-income countries in regard to access to care, administrative efficiency, equity, and health care outcomes (Schneider, 2021). Additionally, women in the United States faced heightened financial barriers to health care that men do not, and also faced unique disadvantages that resulted in reduced utilization of care (Cameron, 2010, p. 1649).
Results showed that rural women were significantly more likely to have one …
Comparing Governmental Communication About Covid-19 Layered Protection Strategies In Taiwan, Kenya, And The United States: A Mixed-Method Analysis Of National Health Agency Websites, Cynthia Mofunanya
Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.)
COVID-19 is a novel coronavirus caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). It can result in severe respiratory damage. Different countries have recommended different combinations of protections during the COVID-19 pandemic. Various combinations of mitigation strategies or “layered protections” against coronavirus have also been communicated differently across nations. This mixed-methods content analysis seeks to compare COVID-19 mitigation information on three national health agency websites for Taiwan, Kenya, and the United States. Availability and navigability of information was examined for each mitigation strategy. The Web Resource Rating tool was used to assess the quality of the information about …
An Analysis Of The Association Between Cognitive Decline And Geographic Residence Among Women Over 65 In The Southeastern United States, Christine Invergo
An Analysis Of The Association Between Cognitive Decline And Geographic Residence Among Women Over 65 In The Southeastern United States, Christine Invergo
Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.)
Abstract
Introduction: The United States is an increasingly aging nation, and aging increases the risk of cognitive decline. Information on the relationship between cognitive decline and geographic residence in the U.S. is limited. Available evidence suggests that rural residents tend to suffer persistent disadvantages in cognitive functioning when compared to sociodemographically similar urban peers. This analysis focused on women over 65 years of age living in the southeastern U.S. The primary objective of this analysis was to determine if there was a significant association between geographic residence and cognitive decline. A secondary objective was to explore variables of interest that …
Youth Who Run Away From Out-Of-Home Care In Wisconsin, 2010-2020, Sydney Shafer
Youth Who Run Away From Out-Of-Home Care In Wisconsin, 2010-2020, Sydney Shafer
Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.)
A sample of 27,599 youth 5-17 years old who entered the child welfare system in Wisconsin between 2010 and 2020 were analyzed to examine differences in those who run away from out-of-home care and those who do not. Risk factors analyzed included age at entry into the system and measures of sexual abuse, physical abuse, emotional abuse, neglect, witness to family violence, placement restrictiveness, youth home county socioeconomic disadvantage and urbanicity, and distance from placement to home. Analyses were presented in gender- and race- specific strata. In this sample, 2434 (8.8%) ran away from their out-of-home care placement at least …
Disparities In Access To Chemotherapy Among Kentucky Stage Iv Non-Small Cell Lung Cancer Patients, Joshua Brown
Disparities In Access To Chemotherapy Among Kentucky Stage Iv Non-Small Cell Lung Cancer Patients, Joshua Brown
Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.)
OBJECTIVE: This population-based retrospective cohort study examines the association of sociodemographic disparities with the receipt of chemotherapy among patients with metastatic non-small cell lung cancer in the Commonwealth of Kentucky in the precision oncology and immunotherapy era.
METHODS: Kentucky Cancer Registry data from 2010 through 2017 was analyzed using univariate, bivariate, unadjusted, and adjusted multivariate regressions to assess disparities in our population (N = 9490).
RESULTS:We found no significant difference in receipt of chemotherapy between sexes (OR 0.99, P=0.90) nor races (OR 1.12, P=0.22). Patients diagnosed in an Appalachia county were significantly less likely to receive chemotherapy (OR 0.71, …
Demographic Characteristics Of Individuals Needing Treatment For Substance Use Disorder, Amber Hill
Demographic Characteristics Of Individuals Needing Treatment For Substance Use Disorder, Amber Hill
Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.)
Introduction:
While multiple options are available for the treatment of substance use disorders (SUD), 9% of individuals reported needing treatment within the last year for illicit drug or alcohol use, according to the 2020 National Survey for Drug Use and Health (NSDUH). Despite concerns about widespread disparities in healthcare access and outcomes, there are limited current data regarding demographic characteristics of individuals that need treatment. It is crucial to identify these characteristics from population-based data in order to develop and implement targeted public health interventions.
Methods:
The NSDUH is an annual, nationwide survey that collects data about substance use and …
Recharge Moments, Scott Keel
Recharge Moments, Scott Keel
Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.)
Abstract Title: Recharge Moments
Background: Recent articles from the CDC and other healthcare agencies have demonstrated the detrimental effects that the COVID-19 pandemic is having on the physical and mental health of the healthcare workforce. Unfortunately, they were less informative in regard to those working for local public health departments. Pre-pandemic and concurrent publications on mindfulness-based interventions have demonstrated the positive and protective effects mindfulness-based interventions can have on burnout prevention and resilience promotion. To gain a better understanding of how the current pandemic might be affecting the public health workforce and to assess whether mindfulness-based interventions would be helpful …
The Impact On Recovery Capital Following High-Intensity Exercise Adjuvant Therapy In Opioid Addiction Treatment, Aaron M. Macdonald
The Impact On Recovery Capital Following High-Intensity Exercise Adjuvant Therapy In Opioid Addiction Treatment, Aaron M. Macdonald
Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.)
OBJECTIVE: The Counseling Center (TCC), a substance abuse disorder (SUD) recovery facility located in Portsmouth, Ohio, began investigating alternative treatment methods that may improve long-term recovery rates through increased recovery capital (RC). RC takes into account numerous social and physical variables during the recovery phase of SUD and evidence shows a higher RC can lead to better recovery outcomes. TCC partnered with Portsmouth Spartan Kettlebell Club (PSKC), a nearby CrossFit (CF) affiliated gym, and created a partnership that allowed clients at TCC to participate in a guided CF program. The purpose of this study was to examine how this program, …
Policy Approaches To Address Childhood Obesity, Omoadoni Roseline Obielodan
Policy Approaches To Address Childhood Obesity, Omoadoni Roseline Obielodan
Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.)
Background: Childhood obesity continues to be a serious international public health concern. Unfortunately, there are limited treatment options for obesity. One notable intervention option is the University of Kentucky (UK) Pediatric high BMI clinic intervention for childhood obesity. The Clinic provides intervention for childhood obesity through healthy lifestyle habits. This intervention has been reported to be effective.
Even though there is evidence that public health policies that promote healthy behaviors would substantially reduce and prevent the alarming prevalence of childhood obesity, the state of Kentucky does not have well-established practical policies that promote healthy behaviors in children. Studies have shown …
Social And Biological Determinants Of Pregnancy-Related Mortality And Morbidity In A Rural, Underserved Population, Anna Hansen
Social And Biological Determinants Of Pregnancy-Related Mortality And Morbidity In A Rural, Underserved Population, Anna Hansen
Theses and Dissertations--Sociology
Cases of severe maternal morbidity (SMM) and pregnancy-related mortality (PRM) are increasing in the US. Research concerning SMM and PRM has neglected women in Central Appalachia; a largely rural, health-disparate population. The aims of this study are two-fold: (1) Examine patient-level and place-based predictors of SMM/PRM via hierarchical logistic regression modeling, and (2) Elucidate Appalachian healthcare patients’ and providers’ experiences with SMM/PRM, perceptions of contributing factors, and insights on points of intervention.
This study uses a mixed methods approach guided by the WHO’s conceptual framework for action on social determinants of health to identify determinants of SMM and PRM among …
An Examination Of Three Transitional Events In The Substance Misuse Trajectories Of Women With Criminal Legal System Involvement, Martha Tillson
An Examination Of Three Transitional Events In The Substance Misuse Trajectories Of Women With Criminal Legal System Involvement, Martha Tillson
Theses and Dissertations--Sociology
Research has consistently demonstrated that criminal legal system (CLS)-involved women are distinct from men in initiation and course of drug use, with important differences on biological, environmental, and sociocultural levels. Thus, the unique pathways and transitions into and out of drug use for women with CLS involvement are critical to consider from a research perspective, but also from a need to develop and support evidence-based, women-centered services in correctional contexts. This dissertation project uses a three-paper format to investigate three aims: (1) to understand CLS-involved women’s initiations to injection drug use and their experiences providing injection initiation assistance (IIA) to …
Deletion Of Period Genes Exacerbates Diet-Induced Obesity In Female, But Not Male, Mice, Elizabeth Kantra
Deletion Of Period Genes Exacerbates Diet-Induced Obesity In Female, But Not Male, Mice, Elizabeth Kantra
Theses and Dissertations--Biology
Sex differences in obesity in mice are mediated by differential responses of circadian rhythms to high-fat feeding in males and females. Other studies also showed circadian Period genes regulate diet-induced obesity in mice. In this study, we investigated the role of the Period genes in regulating sex differences in obesity. Male and female C57BL/6J wild type, Per1/2 KO, and Per1/2/3 KO mice were housed in 12L:12D and fed high-fat diet for 12 weeks. We found a striking sex difference in obesity such that disabling the Period genes exacerbated adiposity in female, but not male, mice. Increased adiposity in female Period …
Defining Patient Cohorts For Guiding Clinical Trials And Treatment In Lafora Disease: A Model For The Rare Disease Community, Katherine Janae Donohue
Defining Patient Cohorts For Guiding Clinical Trials And Treatment In Lafora Disease: A Model For The Rare Disease Community, Katherine Janae Donohue
Theses and Dissertations--Molecular and Cellular Biochemistry
In the US, approximately 8000 rare diseases have been identified. Combined, rare diseases impact more than 30 million people in the U.S. alone, with 75% of those being children. However, research, funding, and therapeutic development for the rare disease community remains challenging because of the incredible diversity – not only between diseases, but often even within a single disease.
LD is an ultra-rare childhood dementia and epilepsy caused by mutations in one of two driver genes: EPM2A, which encodes for the glycogen phosphatase laforin, and EPM2B/NHLRC1, which encodes the E3 ubiquitin ligase malin. Children with LD …