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Full-Text Articles in Medicine and Health Sciences

Advance Directives For Older Adults In Primary Care: An Intervention To Promote Screening And Documentation, Kathryn Bower Jan 2019

Advance Directives For Older Adults In Primary Care: An Intervention To Promote Screening And Documentation, Kathryn Bower

DNP Projects

Background: Advance care planning is the process of making decisions about the healthcare one wishes to receive should they become unable to make decisions for themselves, including the development of advance directives and designation of health care surrogates. Advance care planning is universally supported by governing bodies and professional organizations; however, less than one-third of Americans have an advance directive or designated health care surrogate.

Purpose: The purpose of this project was to assess primary care provider attitudes and knowledge of advance care planning and to increase screening for and documentation of advance directives and/or health care surrogates …


The Effect Of Implementation Of A Nurse Manager Orientation Program On Nurse Manager Competency And Empowerment, Erin Coogan Jan 2019

The Effect Of Implementation Of A Nurse Manager Orientation Program On Nurse Manager Competency And Empowerment, Erin Coogan

DNP Projects

Background statement: Based on the role the nurse manager plays in improving quality outcomes, promoting staff and patient satisfaction, and creating the culture of the unit, it is vital that proper training is provided to new nurse managers to increase their competency and sense of empowerment.

Theoretical/Conceptual Framework: The theoretical/conceptual framework that provided the base for this study was Bandura’s theory of Self-Efficacy. A sense of accomplishment and overall well-being of a person is affected by a strong sense of efficacy.

Purpose Statement: The purpose of this project was to evaluate the effectiveness of a mandatory systemized nurse manager orientation …


Are Nurses High Risk For Experience With Behavioral Health Problems?, Farrah Alayne Thornsberry Jan 2019

Are Nurses High Risk For Experience With Behavioral Health Problems?, Farrah Alayne Thornsberry

DNP Projects

Abstract

Behavioral health problems impact approximately 19% of the United States population and nurses are not exempt from these experiences. In fact, nurses may be at higher risk for developing a behavioral health issue than the general public. The purpose of this study was to identify specific demographic, work-related, and behavioral variables associated with substance use and personal experience with any mental and or behavioral health problems among nurses in an academic healthcare system. Being female, younger in age, higher level of education and increased use of alcohol were risk factors associated with self-reported experience with behavioral health problems. Additionally, …


What Is The Prevalence Of Adhd In Children Who Were Diagnosed With Neonatal Abstinence Syndrome? A Retrospective Chart Review., Scott Graham Jan 2019

What Is The Prevalence Of Adhd In Children Who Were Diagnosed With Neonatal Abstinence Syndrome? A Retrospective Chart Review., Scott Graham

DNP Projects

Background: Neonatal abstinence syndrome (NAS) is the set of signs and symptoms present in a newborn whose mother was addicted to drugs while pregnant. NAS can occur due to sudden withdrawal from several drugs, including opioids, benzodiazepines, methamphetamines, and caffeine. It can cause many different issues in the newborn, including diarrhea, tremors, fever, and seizures. While these specific signs and symptoms are self-limited, research is showing that these children grow in to childhood and adolescence with increased risk of Attention-Deficit/Hyperactivity Disorder (ADHD), autism, motor dysregulation, and other cognitive and behavioral sequelae.

Purpose: The purpose of this project was to establish …


Staff Perception Of Workplace Violence In The Ed: Implementing Egress Education And Cue Recognition, Kelsey Jobe Jan 2019

Staff Perception Of Workplace Violence In The Ed: Implementing Egress Education And Cue Recognition, Kelsey Jobe

DNP Projects

Purpose: The purpose of this DNP project was to examine staff perception of workplace violence before and after an educational intervention provided to bedside staff members in the ED of a Level-1 trauma center. The project focused on assessing the impact of an educational intervention on staff perception of WPV related to safety and overall awareness.

Methods: This project was a single site project designed to examine the impact of an educational intervention using egress education and cue recognition in the ED setting using a pre- and post-survey. The survey examined staff perception of safety related to WPV before and …


Evaluation Of Depression Screening By Providers For Adult Patients With Type 2 Diabetes In Primary Care, Kristy M. Bryant Jan 2019

Evaluation Of Depression Screening By Providers For Adult Patients With Type 2 Diabetes In Primary Care, Kristy M. Bryant

DNP Projects

BACKGROUND: Depression in adults with type 2 diabetes can lead to non-adherence to self-management behaviors and treatment recommendations, and ultimately worse health outcomes. Currently, only 50% of adult patients with type 2 diabetes treated in the primary care setting are screened for depression. Without screening for depression, a diagnosis of depression and subsequent treatment is likely to be missed and the patient is more likely to experience worse health outcomes and worse quality of life.

PURPOSE: The purpose of this study was to evaluate impact of provider education on improving screening rates for depression in adult patients with type 2 …


The Effects Of Screening Tool Of Older Persons’ Prescriptions On Potentially Inappropriate Prescribing In Elderly Inpatients, Jamie Leigh Edmiston Franks Jan 2019

The Effects Of Screening Tool Of Older Persons’ Prescriptions On Potentially Inappropriate Prescribing In Elderly Inpatients, Jamie Leigh Edmiston Franks

DNP Projects

Objective: The purpose of this project is to educate providers and implement the use of the Screening Tool of Older Persons’ Prescriptions (STOPP) on patients 65 and older admitted as inpatients at Owensboro Health and reduce potentially inappropriate medications (PIMs).

Background: Polypharmacy, the use of multiple medications or medications that are not medically necessary, is a persistent and growing problem for elderly patients in the United States. Polypharmacy has become synonymous with medications that are considered potentially inappropriate in individuals 65 or older. PIMs may be medications that, in the elderly, have deleterious effects, no indication, are used for treatment …


The Effects Of Compassion Fatigue On Burnout Among Inpatient Psychiatric And Intensive Care Unit Nurses, Amita Madan Neidlinger Jan 2019

The Effects Of Compassion Fatigue On Burnout Among Inpatient Psychiatric And Intensive Care Unit Nurses, Amita Madan Neidlinger

DNP Projects

PURPOSE: This DNP project is relevant to nurses of the psychiatric and Intensive Care Unit (ICU) setting, as high stress environments may produce higher rates of compassion fatigue and burnout. Investigation of these areas may help illuminate unnecessary healthcare costs that are associated with these phenomena. This DNP project is important to the University of Kentucky’s healthcare system, its patients, and nurses. Increased absenteeism and increased medication errors are positively associated with the prevalence of compassion fatigue and burnout in nurses. Outcomes from this project will allow identification of unnecessary healthcare costs and encourage administrators to focus on reducing nurse …


Increasing Smoking History Documentation And Lung Cancer Screening Orders In A Primary Care Clinic, Tabitha M. Caudill Jan 2019

Increasing Smoking History Documentation And Lung Cancer Screening Orders In A Primary Care Clinic, Tabitha M. Caudill

DNP Projects

BACKGROUND: In 2018, there were approximately 234,030 new lung cancer diagnoses and 154,500 lung cancer deaths in the United States. Kentucky leads the nation in new lung cancer cases each year. The USPSTF estimates that 10% to 12% of lung cancers detected by routine screening would not have been detected until the cancer advanced; therefore, the USPSTF recommends yearly lung cancer screenings using low dose CT (LDCT) scans of the chest for patients 55 to 80 years old who have a 30 pack-year smoking history and are currently smoking or have quit within the last 15 years.

PURPOSE: …


Nurse-Led Positive Psychology Intervention Is Feasible In Patients With Heart Failure, Erin Taylor Jan 2019

Nurse-Led Positive Psychology Intervention Is Feasible In Patients With Heart Failure, Erin Taylor

DNP Projects

Introduction:  Prevalence of heart failure (HF) in the US is projected to rise 46% by 2030, resulting in more than 8 million people with HF.  Negative psychologic states including depression and pessimism (negative future expectations) have been linked with poor cardiovascular outcomes, including HF.  Despite the fact that optimism (positive future expectations) and other positive affective states have been associated with superior outcomes, there has been little focus on interventions designed to increase positive psychological states in patients with HF.

Objective: To test the acceptability and feasibility of a nurse-led positive psychology intervention, Best Possible Self (BPS).

Methods: A convenience …


Evaluating The Feasibility Of Outpatient Iv Diuretic Therapy For Patients With Decompensated Heart Failure, Christina Thompson Jan 2019

Evaluating The Feasibility Of Outpatient Iv Diuretic Therapy For Patients With Decompensated Heart Failure, Christina Thompson

DNP Projects

Heart failure is a prevalent chronic disease that contributes to many hospitalizations that may not always be necessary. Evidence supports that patients who present to the Emergency Department in fluid overload can be treated in the outpatient setting when only IV diuretic is warranted. Both decreases in costs and improved outcomes have been reported, yet there has been little movement toward providing outpatient diuresis versus hospitalization. The purpose of this DNP project was to evaluate the feasibility of an outpatient option for IV diuretic therapy for patients with acute decompensated heart failure experiencing symptoms of fluid overload. This descriptive study …


Screen Time And The Effects On Attention Deficit Hyperactivity Disorder, Cassandra Starks Jan 2019

Screen Time And The Effects On Attention Deficit Hyperactivity Disorder, Cassandra Starks

DNP Projects

PURPOSE: The purpose of this project is to determine if an educational intervention with families decreased overall screen time use in school-aged children with attention-deficit/hyperactivity disorder (ADHD).

METHODS: This study was a single group pre-test, post-test interventional study design. The sample population consisted of the parents/guardians of 30 school-aged children diagnosed with ADHD (5-12 years) recruited from the University of Kentucky Developmental and Behavioral Pediatrics Clinic between November 2019 and February 2020. Parents completed a survey about their child’s daily screen time exposure (tablets/cell phones, laptops/computers, video games, and television) and were educated how screen time can exacerbate ADHD symptoms, …


Studies Of Oxidative Damage, Brain Proteome, And Neurochemical Metabolites In Cognitive And Neurodegenerative Disorders: (1) Chemotherapy-Induced Cognitive Impairment; (2) Parkinson Disease Rat Model, Xiaojia Ren Jan 2019

Studies Of Oxidative Damage, Brain Proteome, And Neurochemical Metabolites In Cognitive And Neurodegenerative Disorders: (1) Chemotherapy-Induced Cognitive Impairment; (2) Parkinson Disease Rat Model, Xiaojia Ren

Theses and Dissertations--Chemistry

The rate of cancer patients is increasing as the development of science and technology. Twenty million cancer survivors are estimated living in the United States by 2025. However, many cancer survivors show cognitive dysfunction, negatively affecting the quality of life. These cognitive impairments are recognized as chemotherapy-induced cognitive impairment (CICI), also called "chemo brain" by cancer survivors, including the diminished ability of memory and learning, hard to concentrate and focus, as well as diminution of executive function and processing speed. The etiologies and pathologies of CICI are complicated, especially in most cases the anti-cancer drug cannot cross the blood-brain barrier …


Towards The Rational Design And Application Of Polymers For Gene Therapy: Internalization And Intracellular Fate, Landon Alexander Mott Jan 2019

Towards The Rational Design And Application Of Polymers For Gene Therapy: Internalization And Intracellular Fate, Landon Alexander Mott

Theses and Dissertations--Chemical and Materials Engineering

Gene therapy is an approach for the treatment of acquired cancers, infectious disease, degenerative disease, and inherited genetic indications. Developments in the fields of immunotherapies and CRISPR/Cas9 genome editing are revitalizing the efforts to move gene therapy to the forefront of modern medicine. However, slow progress and poor clinical outcomes have plagued the field due to regulatory and safety concerns associated with the flagship delivery vector, the recombinant virus. Immunogenicity and poor transduction in certain cell types severely limits the utility of viruses as a delivery agent of nucleic acids. As a result, significant efforts are being made to develop …


Discovery Of Selective Probes Targeting Rna Polymerase I, Xiao Tan Jan 2019

Discovery Of Selective Probes Targeting Rna Polymerase I, Xiao Tan

Theses and Dissertations--Chemistry

RNR Polymerase I (RNA Pol I) is a “factory” that orchestrate the transcription of ribosomal rRNA for constructing ribosomes as a primary workshop for protein translation to sustain cell growth. Misregulation of RNA Pol I can cause uncontrolled cell proliferation, which leads to the development of cancer. Yeast (Saccharomyces cerevisiae) is a valuable model system to study RNA Pol I. Recently, the X-ray crystal structure of the yeast homologue of RNA Pol I was elucidated, offering the structural basis to selectively target this transcriptional machinery. The approach to selective RNA Pol I targeting was to disrupt the interaction …


Examining The Utility Of Behavioral Economic Demand In Addiction Science, Justin Charles Strickland Jan 2019

Examining The Utility Of Behavioral Economic Demand In Addiction Science, Justin Charles Strickland

Theses and Dissertations--Psychology

The marriage of perspectives from behavioral economic theory and learning theory has the potential to advance an understanding of substance use and substance use disorder. Behavioral economic demand is a central concept to this interdisciplinary approach. Evaluating demand in the laboratory and clinic can improve previous research on the relative reinforcing effects of drugs by accounting for the multi-dimensional nature of reinforcement rather than viewing reinforcement as a unitary construct. Recent advances in the commodity purchase task methodology have further simplified the measurement of demand values in human participants. This dissertation project presents a programmatic series of studies designed to …


When Brain Stimulation Backfires, Sarah Beth Bell Jan 2019

When Brain Stimulation Backfires, Sarah Beth Bell

Theses and Dissertations--Psychology

tDCS brain stimulation does not always work in the intended direction. It has been found to sometimes worsen behavior rather than improve it. A preliminary study shows that people high on sensation-seeking and lack of premeditation were prone to reverse effects of tDCS on performance on a Stop Signal Task. Both of these constructs are related to dopamine levels. Study 2 seeks to intentionally cause a reverse effect of tDCS by increasing participants’ dopamine levels via caffeine. There was not a significant interaction between tDCS and caffeine on errors on the Stop Signal Task in this study. However, other factors …


Neurobehavioral Measurements Of Natural And Opioid Reward Value, Aaron Paul Smith Jan 2019

Neurobehavioral Measurements Of Natural And Opioid Reward Value, Aaron Paul Smith

Theses and Dissertations--Psychology

In the last decade, (non)prescription opioid abuse, opioid use disorder (OUD) diagnoses, and opioid-related overdoses have risen and represent a significant public health concern. One method of understanding OUD is as a disorder of choice that requires choosing opioid rewards at the expense of other nondrug rewards. The characterization of OUD as a disorder of choice is important as it implicates decision- making processes as therapeutic targets, such as the valuation of opioid rewards. However, reward-value measurement and interpretation are traditionally different in substance abuse research compared to related fields such as economics, animal behavior, and neuroeconomics and may be …


Measuring Glutamate And Oxygen In Brain Reward Circuits In Animal Models Of Cocaine Abuse And Decision-Making, Seth Richard Batten Jan 2019

Measuring Glutamate And Oxygen In Brain Reward Circuits In Animal Models Of Cocaine Abuse And Decision-Making, Seth Richard Batten

Theses and Dissertations--Psychology

Drug-specific reward and associated effects on neural signaling are often studied between subjects, where one group self-administers drug and a separate group self-administers a natural reinforcer. However, exposure to drugs of abuse can cause long-term neural adaptations that can affect how an organism responds to drug reward, natural reward, and their reward-associated stimuli. Thus, to isolate drug-specific effects it is important to use models that expose the same organism to all of the aforementioned. Multiple schedules provide a means of dissociating the rewarding effects of a drug from the rewarding effects of food within a single animal. Further, drug users …


Modeling Daily Posttraumatic Stress Symptoms And Mental Contamination Experiences Among Survivors Of Sexual Trauma, C. Alex Brake Jan 2019

Modeling Daily Posttraumatic Stress Symptoms And Mental Contamination Experiences Among Survivors Of Sexual Trauma, C. Alex Brake

Theses and Dissertations--Psychology

Mental contamination (i.e., feelings of dirtiness in the absence of contact with a contaminant) is a potentially important yet understudied factor in posttraumatic psychopathology, particularly for survivors of sexual trauma. Mental contamination has been linked to PTSD symptom severity, negative affect, and coping cross-sectionally and in lab-based paradigms, but research has yet to assess these relationships in ecological contexts. The present study extends previous cross-sectional findings by modelling relationships between mental contamination and posttraumatic psychopathology, emotions, and coping both within-day and from one day to the next. Forty-two female sexual trauma survivors completed twice-daily assessments of mental contamination, PTSD symptoms, …


Patient-Centered Medical Homes In Community Oncology Practices: Changes In Spending And Care Quality Associated With The Come Home Experience, Teresa M. Waters, Cameron M. Kaplan, Ilana Graetz, Mary M. Price, Laura A. Stevens, Barbara L. Mcaneny Jan 2019

Patient-Centered Medical Homes In Community Oncology Practices: Changes In Spending And Care Quality Associated With The Come Home Experience, Teresa M. Waters, Cameron M. Kaplan, Ilana Graetz, Mary M. Price, Laura A. Stevens, Barbara L. Mcaneny

Health Management and Policy Faculty Publications

PURPOSE:

We examined whether the Community Oncology Medical Home (COME HOME) program, a medical home program implemented in seven community oncology practices, was associated with changes in spending and care quality.

PATIENTS AND METHODS:

We compared outcomes from elderly fee-for-service Medicare beneficiaries diagnosed between 2011 and 2015 with breast, lung, colorectal, thyroid, or pancreatic cancer, lymphoma, or melanoma and served by COME HOME practices before and after program implementation versus similar beneficiaries served by other geographically proximate oncologists. Difference-in-differences analysis compared changes in outcomes for COME HOME patients versus concurrent controls. Propensity score matching and regression methods were adjusted for …


Patients' Perceptions And Patient-Reported Outcomes In Progressive-Fibrosing Interstitial Lung Diseases, Jeffrey J. Swigris, Kevin K. Brown, Rayid Abdulqawi, Ketan Buch, Daniel F. Dilling, Dirk Koschel, Krishna Thavarajah, Rade Tomic, Yoshikazu Inoue Dec 2018

Patients' Perceptions And Patient-Reported Outcomes In Progressive-Fibrosing Interstitial Lung Diseases, Jeffrey J. Swigris, Kevin K. Brown, Rayid Abdulqawi, Ketan Buch, Daniel F. Dilling, Dirk Koschel, Krishna Thavarajah, Rade Tomic, Yoshikazu Inoue

Internal Medicine Faculty Publications

The effects of interstitial lung disease (ILD) create a significant burden on patients, unsettling almost every domain of their lives, disrupting their physical and emotional well-being and impairing their quality of life (QoL). Because many ILDs are incurable, and there are limited reliably-effective, life-prolonging treatment options available, the focus of many therapeutic interventions has been on improving or maintaining how patients with ILD feel and function, and by extension, their QoL. Such patient-centred outcomes are best assessed by patients themselves through tools that capture their perceptions, which inherently incorporate their values and judgements. These patient-reported outcome measures (PROs) can be …


Patients' Perceptions And Patient-Reported Outcomes In Progressive-Fibrosing Interstitial Lung Diseases, Jeffrey J. Swigris, Kevin K. Brown, Rayid Abdulqawi, Ketan Buch, Daniel F. Dilling, Dirk Koschel, Krishna Thavarajah, Rade Tomic, Yoshikazu Inoue Dec 2018

Patients' Perceptions And Patient-Reported Outcomes In Progressive-Fibrosing Interstitial Lung Diseases, Jeffrey J. Swigris, Kevin K. Brown, Rayid Abdulqawi, Ketan Buch, Daniel F. Dilling, Dirk Koschel, Krishna Thavarajah, Rade Tomic, Yoshikazu Inoue

Internal Medicine Faculty Publications

The effects of interstitial lung disease (ILD) create a significant burden on patients, unsettling almost every domain of their lives, disrupting their physical and emotional well-being and impairing their quality of life (QoL). Because many ILDs are incurable, and there are limited reliably-effective, life-prolonging treatment options available, the focus of many therapeutic interventions has been on improving or maintaining how patients with ILD feel and function, and by extension, their QoL. Such patient-centred outcomes are best assessed by patients themselves through tools that capture their perceptions, which inherently incorporate their values and judgements. These patient-reported outcome measures (PROs) can be …


The Relative Financial Cost And Benefit Of An Ophthalmology Resident Compared To An Advanced Practice Provider, Optometrist, Or Faculty Ophthalmologist, Daniel B. Moore, William Barr Dec 2018

The Relative Financial Cost And Benefit Of An Ophthalmology Resident Compared To An Advanced Practice Provider, Optometrist, Or Faculty Ophthalmologist, Daniel B. Moore, William Barr

Ophthalmology and Visual Science Faculty Publications

Objective The main objective of the article is to determine the relative direct financial cost and benefit of an advanced practice provider (APP), optometrist, and faculty ophthalmologist compared with an ophthalmology resident.

Design Single center cost–benefit financial analysis.

Methods The direct total expenses, including mean salary and benefits; the cost/week, based upon calculated hours worked; and net revenue, based upon technical collections subtracted from total expenses were collected for all APPs, optometrists, faculty ophthalmologists, and ophthalmology residents at the University of Kentucky for the 2016 to 2017 academic year. Optometry and ophthalmology faculty collections were adjusted for clinical full-time equivalents. …


Mutants Of Cocaine Esterase, Donald Landry, Chang-Guo Zhan Dec 2018

Mutants Of Cocaine Esterase, Donald Landry, Chang-Guo Zhan

Pharmaceutical Sciences Faculty Patents

Provided are mutant cocaine esterase polypeptides and PEGylated formulations thereof.


Bovine Mammary Gland Biopsy Techniques, Veridiana L. Daley, Charles Dye, Sophie H. Bogers, R. Michael Akers, Francisco C. Rodriguez, John P. Cant, John Doelman, Peter Yoder, Karan Kumar, Dane Webster, Mark D. Hanigan Dec 2018

Bovine Mammary Gland Biopsy Techniques, Veridiana L. Daley, Charles Dye, Sophie H. Bogers, R. Michael Akers, Francisco C. Rodriguez, John P. Cant, John Doelman, Peter Yoder, Karan Kumar, Dane Webster, Mark D. Hanigan

Animal and Food Sciences Faculty Publications

Bovine mammary gland biopsies allow researchers to collect tissue samples to study cell biology including gene expression, histological analysis, signaling pathways, and protein translation. This article describes two techniques for biopsy of the bovine mammary gland (MG). Three healthy Holstein dairy cows were the subjects. Before biopsies, cows were milked and subsequently restrained in a cattle chute. An analgesic (flunixin meglumine, 1.1 to 2.2 mg/kg of body weight) was administered via jugular intravenous [IV] injection 15-20 min prior to biopsy. For standing sedation, xylazine hydrochloride (0.01-0.05 mg/kg of body weight) was injected via the coccygeal vessels 5-10 min before the …


Kinetics Of The Chromosome 14 Microrna Cluster Ortholog And Its Potential Role During Placental Development In The Pregnant Mare, Pouya Dini, Peter Daels, Shavahn C. Loux, Alejandro Esteller-Vico, Mariano Carossino, Kirsten E. Scoggin, Barry A. Ball Dec 2018

Kinetics Of The Chromosome 14 Microrna Cluster Ortholog And Its Potential Role During Placental Development In The Pregnant Mare, Pouya Dini, Peter Daels, Shavahn C. Loux, Alejandro Esteller-Vico, Mariano Carossino, Kirsten E. Scoggin, Barry A. Ball

Maxwell H. Gluck Equine Research Center Faculty Publications

Background: The human chromosome 14 microRNA cluster (C14MC) is a conserved microRNA (miRNA) cluster across eutherian mammals, reported to play an important role in placental development. However, the expression kinetics and function of this cluster in the mammalian placenta are poorly understood. Here, we evaluated the expression kinetics of the equine C24MC, ortholog to the human C14MC, in the chorioallantoic membrane during the course of gestation.

Results: We demonstrated that C24MC-associated miRNAs presented a higher expression level during early stages of pregnancy, followed by a decline later in gestation. Evaluation of one member of C24MC (miR-409-3p) by in situ hybridization …


Large-Scale Genome-Wide Meta-Analysis Of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture For Different Diagnosis Criteria, Felix Day, Tugce Karaderi, Michelle R. Jones, Cindy Meun, Chunyan He, Alex Drong, Peter Kraft, Nan Lin, Hongyan Huang, Linda Broer, Reedik Magi, Richa Saxena, Triin Laisk, Margrit Urbanek, M. Geoffrey Hayes, Gudmar Thorleifsson, Juan Fernandez-Tajes, Anubha Mahajan, Benjamin H. Mullin, Bronwyn G. A. Stuckey, Timothy D. Spector, Scott G. Wilson, Mark O. Goodarzi, Lea Davis, Barbara Obermayer-Pietsch, André G. Uitterlinden, Verneri Anttila, Benjamin M. Neale, Marjo-Riitta Jarvelin, Bart Fauser Dec 2018

Large-Scale Genome-Wide Meta-Analysis Of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture For Different Diagnosis Criteria, Felix Day, Tugce Karaderi, Michelle R. Jones, Cindy Meun, Chunyan He, Alex Drong, Peter Kraft, Nan Lin, Hongyan Huang, Linda Broer, Reedik Magi, Richa Saxena, Triin Laisk, Margrit Urbanek, M. Geoffrey Hayes, Gudmar Thorleifsson, Juan Fernandez-Tajes, Anubha Mahajan, Benjamin H. Mullin, Bronwyn G. A. Stuckey, Timothy D. Spector, Scott G. Wilson, Mark O. Goodarzi, Lea Davis, Barbara Obermayer-Pietsch, André G. Uitterlinden, Verneri Anttila, Benjamin M. Neale, Marjo-Riitta Jarvelin, Bart Fauser

Internal Medicine Faculty Publications

Polycystic ovary syndrome (PCOS) is a disorder characterized by hyperandrogenism, ovulatory dysfunction and polycystic ovarian morphology. Affected women frequently have metabolic disturbances including insulin resistance and dysregulation of glucose homeostasis. PCOS is diagnosed with two different sets of diagnostic criteria, resulting in a phenotypic spectrum of PCOS cases. The genetic similarities between cases diagnosed based on the two criteria have been largely unknown. Previous studies in Chinese and European subjects have identified 16 loci associated with risk of PCOS. We report a fixed-effect, inverse-weighted-variance meta-analysis from 10,074 PCOS cases and 103,164 controls of European ancestry and characterisation of PCOS related …


Dichotomous Scoring Of Tdp-43 Proteinopathy From Specific Brain Regions In 27 Academic Research Centers: Associations With Alzheimer's Disease And Cerebrovascular Disease Pathologies, Yuriko Katsumata, David W. Fardo, Walter A. Kukull, Peter T. Nelson Dec 2018

Dichotomous Scoring Of Tdp-43 Proteinopathy From Specific Brain Regions In 27 Academic Research Centers: Associations With Alzheimer's Disease And Cerebrovascular Disease Pathologies, Yuriko Katsumata, David W. Fardo, Walter A. Kukull, Peter T. Nelson

Biostatistics Faculty Publications

TAR-DNA binding protein 43 (TDP-43) proteinopathy is a common brain pathology in elderly persons, but much remains to be learned about this high-morbidity condition. Published stage-based systems for operationalizing disease severity rely on the involvement (presence/absence) of pathology in specific anatomic regions. To examine the comorbidities associated with TDP-43 pathology in aged individuals, we studied data from the National Alzheimer’s Coordinating Center (NACC) Neuropathology Data Set. Data were analyzed from 929 included subjects with available TDP-43 pathology information, sourced from 27 different American Alzheimer’s Disease Centers (ADCs). Cases with relatively unusual diseases including autopsy-proven frontotemporal lobar degeneration (FTLD-TDP or FTLD-tau) …


Als Mutations Of Fus Suppress Protein Translation And Disrupt The Regulation Of Nonsense-Mediated Decay, Marisa Kamelgarn, Jing Chen, Lisha Kuang, Huan Jin, Edward J. Kasarskis, Haining Zhu Dec 2018

Als Mutations Of Fus Suppress Protein Translation And Disrupt The Regulation Of Nonsense-Mediated Decay, Marisa Kamelgarn, Jing Chen, Lisha Kuang, Huan Jin, Edward J. Kasarskis, Haining Zhu

Toxicology and Cancer Biology Faculty Publications

Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease characterized by preferential motor neuron death. Approximately 15% of ALS cases are familial, and mutations in the fused in sarcoma (FUS) gene contribute to a subset of familial ALS cases. FUS is a multifunctional protein participating in many RNA metabolism pathways. ALS-linked mutations cause a liquid–liquid phase separation of FUS protein in vitro, inducing the formation of cytoplasmic granules and inclusions. However, it remains elusive what other proteins are sequestered into the inclusions and how such a process leads to neuronal dysfunction and degeneration. In this study, we developed …