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Articles 167821 - 167850 of 1739080

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Improving Adherence To Clinical Practice Guidelines For Managing Gastric Intestinal Metaplasia Among Gastroenterologists At A Us Academic Institution, Ruben Hernaez, Gyanprakash A Ketwaroo, Avegail G Flores, Jason K Hou, Maria E Jarbrink-Sehgal, Natalia I Khalaf, Daniel G Rosen, Hashem B El-Serag, Mimi C Tan May 2024

Improving Adherence To Clinical Practice Guidelines For Managing Gastric Intestinal Metaplasia Among Gastroenterologists At A Us Academic Institution, Ruben Hernaez, Gyanprakash A Ketwaroo, Avegail G Flores, Jason K Hou, Maria E Jarbrink-Sehgal, Natalia I Khalaf, Daniel G Rosen, Hashem B El-Serag, Mimi C Tan

Faculty, Staff and Students Publications

BACKGROUND: Clinical guidelines reserve endoscopic surveillance after a gastric intestinal metaplasia (GIM) diagnosis for high-risk patients. However, it is unclear how closely guidelines are followed in clinical practice. We examined the effectiveness of a standardized protocol for the management of GIM among gastroenterologists at a US hospital.

METHODS: This was a preintervention and postintervention study, which included developing a protocol and education of gastroenterologists on GIM management. For the preintervention study, 50 patients with GIM were randomly selected from a histopathology database at the Houston VA Hospital between January 2016 and December 2019. For the postintervention study, we assessed change …


Natural History Of Cancer-Associated Splanchnic Vein Thrombosis, Francisco Novoa, Raka Bandyo, Shengling Ma, Ang Li May 2024

Natural History Of Cancer-Associated Splanchnic Vein Thrombosis, Francisco Novoa, Raka Bandyo, Shengling Ma, Ang Li

Faculty, Staff and Students Publications

Background: There is uncertainty in the management of cancer-associated isolated splanchnic vein thrombosis (SpVT).

Objectives: To describe the natural history of SpVT by cancer type and thrombus composition and to review anticoagulation (AC) practices and associated rates of usual-site venous thromboembolism (VTE), major and clinically relevant nonmajor bleeding (MB/CRNMB), recanalization/progression, and mortality.

Methods: We performed a retrospective cohort study in patients with SpVT at 2 cancer care centers in Houston, Texas. We estimated the incidence of usual-site VTE and MB/CRNMB at 6 months using competing risk methods and examined venous patency in a subset of patients with repeat imaging. We …


Special Anatomy Series Imaging Inner Ear Structures With High-Frequency Ultrasound: Application To Physical Rehabilitation Space Medicine, Faye Y Chiou-Tan May 2024

Special Anatomy Series Imaging Inner Ear Structures With High-Frequency Ultrasound: Application To Physical Rehabilitation Space Medicine, Faye Y Chiou-Tan

Faculty, Staff and Students Publications

OBJECTIVE: The objective of this paper is to document the feasibility of image acquisition, image optimization, and sonographic appearance of the exposed anatomic windows of cadaveric inner ear dissection for purposes of potential future clinical evaluation as part of the developing area of physical and rehabilitation space medicine.

METHODS: Cadaveric dissection of the inner ear was conducted with the goal of exposing areas relevant to vestibular balance. Middle and inner ear structures of 3 human cadavers were imaged with multiple broadband transducers, including emphasis with higher frequency transducers.

RESULTS: The images were best optimized with 17 MHz and 22 MHz …


Longitudinal Natural History Studies Based On Real-World Data In Rare Diseases: Opportunity And A Novel Approach, Jamie L Fraser, Joshua L Bonkowsky, Francesco Gavazzi, Russel D'Aiello, Nicholson B Modesti, Emily Yu, Sylvia Mutua, Emma Kotes, Justine Shults, Ariel Vincent, Lisa T Emrick, Stephanie Keller, Keith P Van Haren, Sarah Woidill, Isabella Barcelos, Amy Pizzino, Johanna L Schmidt, Florian Eichler, Ali Fatemi, Adeline Vanderver May 2024

Longitudinal Natural History Studies Based On Real-World Data In Rare Diseases: Opportunity And A Novel Approach, Jamie L Fraser, Joshua L Bonkowsky, Francesco Gavazzi, Russel D'Aiello, Nicholson B Modesti, Emily Yu, Sylvia Mutua, Emma Kotes, Justine Shults, Ariel Vincent, Lisa T Emrick, Stephanie Keller, Keith P Van Haren, Sarah Woidill, Isabella Barcelos, Amy Pizzino, Johanna L Schmidt, Florian Eichler, Ali Fatemi, Adeline Vanderver

Faculty, Staff and Students Publications

Growing interest in therapeutic development for rare diseases necessitate a systematic approach to the collection and curation of natural history data that can be applied consistently across this group of heterogenous rare diseases. In this study, we discuss the challenges facing natural history studies for leukodystrophies and detail a novel standardized approach to creating a longitudinal natural history study using existing medical records.

Prospective studies are uniquely challenging for rare diseases. Delays in diagnosis and overall rarity limit the timely collection of natural history data. When feasible, prospective studies are often cross-sectional rather than longitudinal and are unlikely to capture …


Fatigue Impacts Quality Of Life In People With Spinocerebellar Ataxias, Chi-Ying R Lin, Tiffany X Chen, Susan Perlman, George Wilmot, Christopher M Gomez, Jeremy D Schmahmann, Henry Paulson, Sarah H Ying, Chiadi U Onyike, Theresa A Zesiewicz, Khalaf O Bushara, Michael D Geschwind, Karla P Figueroa, Stefan M Pulst, Sub H Subramony, Matthew R Burns, Puneet Opal, Antoine Duquette, Tetsuo Ashizawa, Ali G Hamedani, Marie Y Davis, Sharan R Srinivasan, Lauren R Moore, Vikram G Shakkottai, Liana S Rosenthal, Sheng-Han Kuo May 2024

Fatigue Impacts Quality Of Life In People With Spinocerebellar Ataxias, Chi-Ying R Lin, Tiffany X Chen, Susan Perlman, George Wilmot, Christopher M Gomez, Jeremy D Schmahmann, Henry Paulson, Sarah H Ying, Chiadi U Onyike, Theresa A Zesiewicz, Khalaf O Bushara, Michael D Geschwind, Karla P Figueroa, Stefan M Pulst, Sub H Subramony, Matthew R Burns, Puneet Opal, Antoine Duquette, Tetsuo Ashizawa, Ali G Hamedani, Marie Y Davis, Sharan R Srinivasan, Lauren R Moore, Vikram G Shakkottai, Liana S Rosenthal, Sheng-Han Kuo

Faculty, Staff and Students Publications

Background: Fatigue is a prevalent and debilitating symptom in neurological disorders, including spinocerebellar ataxias (SCAs). However, the risk factors of fatigue in the SCAs as well as its impact have not been well investigated.

Objectives: To study the prevalence of fatigue in SCAs, the factors contributing to fatigue, and the influence of fatigue on quality of life.

Methods: Fatigue was assessed in 418 participants with SCA1, SCA2, SCA3, and SCA6 from the Clinical Research Consortium for the Study of Cerebellar Ataxia using the Fatigue Severity Scale. We conducted multi-variable linear regression models to examine the factors contributing to fatigue as …


Proteomic Biomarkers Of Quantitative Interstitial Abnormalities In Copdgene And Cardia Lung Study, Kaushik Amancherla, Andrew Perry, Xiaoning Huang, Ruben San José Estépar, Samuel Y Ash, Weihua Guan, David R Jacobs, Fernando J Martinez, Ivan O Rosas, Russell P Bowler, Jonathan A Kropski, Nicholas E Banovich, Sadiya S Khan, Raúl San José Estépar, Ravi Shah, Bharat Thyagarajan, Ravi Kalhan, George R Washko May 2024

Proteomic Biomarkers Of Quantitative Interstitial Abnormalities In Copdgene And Cardia Lung Study, Kaushik Amancherla, Andrew Perry, Xiaoning Huang, Ruben San José Estépar, Samuel Y Ash, Weihua Guan, David R Jacobs, Fernando J Martinez, Ivan O Rosas, Russell P Bowler, Jonathan A Kropski, Nicholas E Banovich, Sadiya S Khan, Raúl San José Estépar, Ravi Shah, Bharat Thyagarajan, Ravi Kalhan, George R Washko

Faculty, Staff and Students Publications

Rationale: Quantitative interstitial abnormalities (QIAs) are early measures of lung injury automatically detected on chest computed tomography scans. QIAs are associated with impaired respiratory health and share features with advanced lung diseases, but their biological underpinnings are not well understood. Objectives: To identify novel protein biomarkers of QIAs using high-throughput plasma proteomic panels within two multicenter cohorts.

Methods: We measured the plasma proteomics of 4,383 participants in an older, ever-smoker cohort (COPDGene [Genetic Epidemiology of Chronic Obstructive Pulmonary Disease]) and 2,925 participants in a younger population cohort (CARDIA [Coronary Artery Disease Risk in Young Adults]) using the SomaLogic SomaScan assays. …


Cardiac Conduction Diseases: Understanding The Molecular Mechanisms To Uncover Targets For Future Treatments, Na Li, Mihail G Chelu May 2024

Cardiac Conduction Diseases: Understanding The Molecular Mechanisms To Uncover Targets For Future Treatments, Na Li, Mihail G Chelu

Faculty, Staff and Students Publications

Introduction: The cardiac conduction system (CCS) is crucial for maintaining adequate cardiac frequency at rest and modulation during exercise. Furthermore, the atrioventricular node and His-Purkinje system are essential for maintaining atrioventricular and interventricular synchrony and consequently maintaining an adequate cardiac output.

Areas covered: In this review article, we examine the anatomy, physiology, and pathophysiology of the CCS. We then discuss in detail the most common genetic mutations and the molecular mechanisms of cardiac conduction disease (CCD) and provide our perspectives on future research and therapeutic opportunities in this field.

Expert opinion: Significant advancement has been made in understanding the molecular …


Targeting C-Myc Transactivation By Lmna Inhibits Trna Processing Essential For Malate-Aspartate Shuttle And Tumour Progression, Xiaojing Wang, Dan Li, Guo Chen, Banghe Bao, Jiyu Song, Xinyi Du, Chunhui Yang, Liduan Zheng, Qiangsong Tong May 2024

Targeting C-Myc Transactivation By Lmna Inhibits Trna Processing Essential For Malate-Aspartate Shuttle And Tumour Progression, Xiaojing Wang, Dan Li, Guo Chen, Banghe Bao, Jiyu Song, Xinyi Du, Chunhui Yang, Liduan Zheng, Qiangsong Tong

Faculty, Staff and Students Publications

Background: A series of studies have demonstrated the emerging involvement of transfer RNA (tRNA) processing during the progression of tumours. Nevertheless, the roles and regulating mechanisms of tRNA processing genes in neuroblastoma (NB), the prevalent malignant tumour outside the brain in children, are yet unknown.

Methods: Analysis of multi-omics results was conducted to identify crucial regulators of downstream tRNA processing genes. Co-immunoprecipitation and mass spectrometry methods were utilised to measure interaction between proteins. The impact of transcriptional regulators on expression of downstream genes was measured by dual-luciferase reporter, chromatin immunoprecipitation, western blotting and real-time quantitative reverse transcription-polymerase chain reaction (RT-PCR) …


Association Of Cardiovascular Health With Subclinical Coronary Atherosclerosis Progression Among Five Racial And Ethnic Groups: The Masala And Mesa Studies, Nilay S Shah, Sameera A Talegawkar, Salim S Virani, Erin D Michos, Roger S Blumenthal, Jaideep Patel May 2024

Association Of Cardiovascular Health With Subclinical Coronary Atherosclerosis Progression Among Five Racial And Ethnic Groups: The Masala And Mesa Studies, Nilay S Shah, Sameera A Talegawkar, Salim S Virani, Erin D Michos, Roger S Blumenthal, Jaideep Patel

Faculty, Staff and Students Publications

Background and aims: South Asian adults (SA) are at higher risk for atherosclerotic cardiovascular disease (ASCVD) compared with other racial/ethnic groups. Life's Simple 7 (LS7) is a guideline-recommended, cardiovascular health (CVH) construct to guide optimization of cardiovascular risk factors. We sought to assess if the LS7 metrics predict coronary artery calcium (CAC) incidence and progression in asymptomatic SA compared with four other racial/ethnic groups.

Methods: We assessed the distribution of CVH metrics (inadequate: score 0-8, average: 9-10, optimal: 11-14, and per 1-unit higher score) and its association with incidence and progression of CAC among South Asians in the Mediators of …


Clofarabine Monotherapy In Aggressive, Relapsed And Refractory Langerhans Cell Histiocytosis, Erin Peckham-Gregory, Vivekanudeep Karri, Whitney Stanton, Brooks Scull, Ryan Fleishmann, Nader El-Mallawany, Olive S Eckstein, Zachary D Prudowsky, Nitya Gulati, Jennifer E Agrusa, Asra Z Ahmed, Roland Chu, Matthew S Dietz, Stanton C Goldman, Michael D Hogarty, Hamayun Imran, Stefanos Intzes, Jenny M Kim, Lisa M Kopp, Carolyn Fein Levy, Philip Neff, Pallavi M Pillai, Bryan A Sisk, Deborah E Schiff, Angela D Trobaugh-Lotrario, Kelly Walkovich, Kenneth L Mcclain, Carl E Allen May 2024

Clofarabine Monotherapy In Aggressive, Relapsed And Refractory Langerhans Cell Histiocytosis, Erin Peckham-Gregory, Vivekanudeep Karri, Whitney Stanton, Brooks Scull, Ryan Fleishmann, Nader El-Mallawany, Olive S Eckstein, Zachary D Prudowsky, Nitya Gulati, Jennifer E Agrusa, Asra Z Ahmed, Roland Chu, Matthew S Dietz, Stanton C Goldman, Michael D Hogarty, Hamayun Imran, Stefanos Intzes, Jenny M Kim, Lisa M Kopp, Carolyn Fein Levy, Philip Neff, Pallavi M Pillai, Bryan A Sisk, Deborah E Schiff, Angela D Trobaugh-Lotrario, Kelly Walkovich, Kenneth L Mcclain, Carl E Allen

Faculty, Staff and Students Publications

Over 50% of patients with systemic LCH are not cured with front-line therapies and data to guide salvage options are limited. We describe 58 patients with LCH who were treated with clofarabine. Clofarabine monotherapy was active against LCH in this cohort including heavily pretreated patients with systemic objective response rate of 92.6%, higher in children (93.8%) than adults (83.3%). BRAFV600E+ variant allele frequency in peripheral blood correlated with positive clinical responses. Prospective multi-center trials are warranted to determine optimal dosing, long-term efficacy, late toxicities, relative cost and patient reported outcomes of clofarabine compared to alternative LCH salvage therapy strategies.


Breaking Barriers: An Innovative Tool To Assess The National And City-Level Physical Activity Policy Development To Practice Disconnect, Josef Mitáš, Michael Pratt May 2024

Breaking Barriers: An Innovative Tool To Assess The National And City-Level Physical Activity Policy Development To Practice Disconnect, Josef Mitáš, Michael Pratt

Faculty, Staff and Student Publications

Background: Population-level physical activity increases are improbable without intersectoral collaboration across government levels and sectors to develop and implement physical activity promotion policies. This study aims to provide information about the development of the Interaction between National and Local Government Levels in Development and Implementation of Physical Activity Policies Tool (INTEGRATE PA-Pol). A framework was created to examine the development and implementation of national and subnational physical activity policies and the (mis)alignment between government levels.

Methods: The work was conducted in 3 phases: (1) a scoping review was carried out to identify local government physical activity promotion policies and instruments …


Immunotherapy Withdrawal By Step-Down To Mesalamine In Pediatric Patients With Ulcerative Colitis May 2024

Immunotherapy Withdrawal By Step-Down To Mesalamine In Pediatric Patients With Ulcerative Colitis

Faculty, Staff and Students Publications

OBJECTIVE: Parents and pediatric patients with ulcerative colitis (UC) who progressed to systemic immunotherapy are concerned about lifelong risks from such treatments. There is limited knowledge about withdrawal of such agents and step-down (SD) to enteral 5-aminosalicylic acid (mesalamine) before transitioning to adult care.

METHODS: We studied nine pediatric cases with moderate to severe UC who after a median of 2.18 years of clinical remission on systemic immunotherapy stepped down to oral mesalamine treatment.

RESULTS: Average follow-up time from SD was 3.49 years. Five patients (55.5%) had sustained remission (without any flare noted) after SD during follow-up. Sustained clinical remission …


Type 2 Airway Inflammation In Copd May 2024

Type 2 Airway Inflammation In Copd

Faculty, Staff and Students Publications

Globally, nearly 400 million persons have COPD, and COPD is one of the leading causes of hospitalisation and mortality across the world. While it has been long-recognised that COPD is an inflammatory lung disease, dissimilar to asthma, type 2 inflammation was thought to play a minor role. However, recent studies suggest that in approximately one third of patients with COPD, type 2 inflammation may be an important driver of disease and a potential therapeutic target. Importantly, the immune cells and molecules involved in COPD-related type 2 immunity may be significantly different from those observed in severe asthma. Here, we identify …


Examining The Relationship Between Anxiety Severity And Autism-Related Challenges During Cognitive Behavioral Therapy For Children With Autism, Jeffrey J Wood, Philip C Kendall, Connor M Kerns, Brent J Small, Wayne K Goodman, Eric A Storch May 2024

Examining The Relationship Between Anxiety Severity And Autism-Related Challenges During Cognitive Behavioral Therapy For Children With Autism, Jeffrey J Wood, Philip C Kendall, Connor M Kerns, Brent J Small, Wayne K Goodman, Eric A Storch

Faculty, Staff and Students Publications

PURPOSE: Using data from a randomized clinical trial evaluating cognitive behavioral therapy (CBT) for children with autism and co-occurring anxiety, this study examined the relationship between autism features and anxiety symptoms throughout CBT.

METHODS: Two multilevel mediation analyses were run which examined the mediating role of changes in anxiety for changes in two core features of autism, (a) repetitive and restrictive behaviors (RRBs) and (b) social communication/interaction impairments, between pre- and post-treatment.

RESULTS: Indirect effects between time and autism characteristics were significant for both models, indicating that as anxiety changes, so do RRBs and social communication/interaction as the outcomes respectively. …


Clinical Outcomes After Acute Coronary Syndromes Or Revascularization Among People Living With Hiv: A Systematic Review And Meta-Analysis, Nouran Ibrahim, Gerald S Bloomfield, Christopher T Longenecker, Maria C Rodriguez-Barradas, Chester N Ashong, Eric Jutkowitz, Tracey H Taveira, Michelle Richard, Jennifer L Sullivan, James L Rudolph, Wen-Chih Wu, Sebhat Erqou May 2024

Clinical Outcomes After Acute Coronary Syndromes Or Revascularization Among People Living With Hiv: A Systematic Review And Meta-Analysis, Nouran Ibrahim, Gerald S Bloomfield, Christopher T Longenecker, Maria C Rodriguez-Barradas, Chester N Ashong, Eric Jutkowitz, Tracey H Taveira, Michelle Richard, Jennifer L Sullivan, James L Rudolph, Wen-Chih Wu, Sebhat Erqou

Faculty, Staff and Students Publications

IMPORTANCE: Clinical outcomes after acute coronary syndromes (ACS) or percutaneous coronary interventions (PCIs) in people living with HIV have not been characterized in sufficient detail, and extant data have not been synthesized adequately.

OBJECTIVE: To better characterize clinical outcomes and postdischarge treatment of patients living with HIV after ACS or PCIs compared with patients in an HIV-negative control group.

DATA SOURCES: Ovid MEDLINE, Embase, and Web of Science were searched for all available longitudinal studies of patients living with HIV after ACS or PCIs from inception until August 2023.

STUDY SELECTION: Included studies met the following criteria: patients living with …


Social Determinants Of Health And Risk Of Stillbirth In The United States, Mariana Baroni, Eunique Williams, Priscilla Ehieze, Rhanna Wilson, Alexia Awoseyi, Hamisu M Salihu May 2024

Social Determinants Of Health And Risk Of Stillbirth In The United States, Mariana Baroni, Eunique Williams, Priscilla Ehieze, Rhanna Wilson, Alexia Awoseyi, Hamisu M Salihu

Faculty, Staff and Students Publications

Objective: Our aim was to evaluate the impact of social determinants of health (SDoH) risk factors on stillbirth among pregnancy-related hospitalizations in the United States.

Study design: We conducted a cross-sectional analysis of delivery-related hospital discharges using annualized data (2016-2017) from the Healthcare Cost and Utilization Project's Nationwide Inpatient Sample. The International Classification of Diseases, 10th Revision ICD-10-CM codes were used to select women with singleton stillbirth. Z-codes were utilized to identify SDoH risk factors and their subtypes. The association between SDoH risk factors and stillbirth was assessed using survey logistic regression models.

Results: We analyzed 8,148,646 hospitalizations, out of …


Mechanisms Driving Fasting-Induced Protection From Genotoxic Injury In The Small Intestine, Sarah To, Yang-Zhe Huang, Steven J Bark, Jason C Mills, Noah F Shroyer May 2024

Mechanisms Driving Fasting-Induced Protection From Genotoxic Injury In The Small Intestine, Sarah To, Yang-Zhe Huang, Steven J Bark, Jason C Mills, Noah F Shroyer

Faculty, Staff and Students Publications

Genotoxic agents such as doxorubicin (DXR) can cause damage to the intestines that can be ameliorated by fasting. How fasting is protective and the optimal timing of fasting and refeeding remain unclear. Here, our analysis of fasting/refeeding-induced global intestinal transcriptional changes revealed metabolic shifts and implicated the cellular energetic hub mechanistic target of rapamycin complex 1 (mTORC1) in protecting from DXR-induced DNA damage. Our analysis of specific transcripts and proteins in intestinal tissue and tissue extracts showed that fasting followed by refeeding at the time of DXR administration reduced damage and caused a spike in mTORC1 activity. However, continued fasting …


Clinical, Radiological And Molecular Responses To Combination Chemotherapy With Mapk Pathway Inhibition In Relapsed And Refractory Langerhans Cell Histiocytosis, Akanksha Batajoo, Deevyashali Parekh, Whitney Stanton, Harshal Abhyankar, Nader K El-Mallawany, Jennifer Agrusa, Olive Eckstein, Nitya Gulati, Jeffrey Schwartz, Wendy Woods-Swafford, Jaime Boyd, Anikit Saha, Carl E Allen, Kenneth L Mcclain May 2024

Clinical, Radiological And Molecular Responses To Combination Chemotherapy With Mapk Pathway Inhibition In Relapsed And Refractory Langerhans Cell Histiocytosis, Akanksha Batajoo, Deevyashali Parekh, Whitney Stanton, Harshal Abhyankar, Nader K El-Mallawany, Jennifer Agrusa, Olive Eckstein, Nitya Gulati, Jeffrey Schwartz, Wendy Woods-Swafford, Jaime Boyd, Anikit Saha, Carl E Allen, Kenneth L Mcclain

Faculty, Staff and Students Publications

Optimal therapeutic approaches for advanced Langerhans cell histiocytosis (LCH) are not known. We assessed the safety and efficacy of combined chemotherapy with MAPK pathway inhibition in 10 patients with refractory systemic disease and/or LCH-associated neurodegeneration. Overall response rate was 9/10 (90%) for the entire cohort: 5/5 (100%) for patients with systemic disease and 6/7 (86%) for patients with central nervous system disease. BRAFV600E+ peripheral blood fraction decreased in 5/6 (83%). Toxicities included fever, skin rash, myalgias, neuropathy, cytopenias and hypocalcaemia. Prospective trials are required to optimize combination strategies, determine potential to achieve cure and compare outcomes to chemotherapy or MAPK …


Atypical Diabetes: What Have We Learned And What Does The Future Hold? May 2024

Atypical Diabetes: What Have We Learned And What Does The Future Hold?

Faculty, Staff and Students Publications

As our understanding of the pathophysiology of diabetes evolves, we increasingly recognize that many patients may have a form of diabetes that does not neatly fit with a diagnosis of either type 1 or type 2 diabetes. The discovery and description of these forms of "atypical diabetes" have led to major contributions to our collective understanding of the basic biology that drives insulin secretion, insulin resistance, and islet autoimmunity. These discoveries now pave the way to a better classification of diabetes based on distinct endotypes. In this review, we highlight the key biological and clinical insights that can be gained …


Validation Of Single-Nucleotide Mosaic Variants Through Droplet Digital Pcr May 2024

Validation Of Single-Nucleotide Mosaic Variants Through Droplet Digital Pcr

Faculty, Staff and Students Publications

The detection, validation, and subsequent interpretation of potentially mosaic single-nucleotide variants (SNV) within next-generation sequencing data remains a challenge in both research and clinical laboratory settings. The ability to identify mosaic variants in high genome coverage sequencing data at levels of 1% or lower underscores the necessity for developing guidelines and best practices to verify these variants orthogonally. Droplet digital PCR (ddPCR) has proven to be a powerful and precise method that allows for the determination of low-level variant fractions within a given sample. Herein we describe two precise ddPCR methods using either a fluorescent TaqMan hydrolysis probe approach or …


Consensus Guidelines For The Diagnosis And Management Of Succinic Semialdehyde Dehydrogenase Deficiency, Melissa L Dibacco, Sarah H Elsea, Àngels García-Cazorla, K Michael Gibson, Andrea L Gropman, Ellen Hanson, Carolyn Hoffman, Kathrin Jeltsch, Natalia Juliá-Palacios, Ina Knerr, Henry H C Lee, Patrizia Malaspina, Alice Mcconnell, Thomas Opladen, Mari Oppebøen, Alexander Rotenberg, Mark Walterfang, Lee Wang-Tso, Ron A Wevers, Jean-Baptiste Roullet, Phillip L Pearl May 2024

Consensus Guidelines For The Diagnosis And Management Of Succinic Semialdehyde Dehydrogenase Deficiency, Melissa L Dibacco, Sarah H Elsea, Àngels García-Cazorla, K Michael Gibson, Andrea L Gropman, Ellen Hanson, Carolyn Hoffman, Kathrin Jeltsch, Natalia Juliá-Palacios, Ina Knerr, Henry H C Lee, Patrizia Malaspina, Alice Mcconnell, Thomas Opladen, Mari Oppebøen, Alexander Rotenberg, Mark Walterfang, Lee Wang-Tso, Ron A Wevers, Jean-Baptiste Roullet, Phillip L Pearl

Faculty, Staff and Students Publications

Succinic semialdehyde dehydrogenase deficiency (SSADHD) (OMIM #271980) is a rare autosomal recessive metabolic disorder caused by pathogenic variants of ALDH5A1. Deficiency of SSADH results in accumulation of γ-aminobutyric acid (GABA) and other GABA-related metabolites. The clinical phenotype of SSADHD includes a broad spectrum of non-pathognomonic symptoms such as cognitive disabilities, communication and language deficits, movement disorders, epilepsy, sleep disturbances, attention problems, anxiety, and obsessive-compulsive traits. Current treatment options for SSADHD remain supportive, but there are ongoing attempts to develop targeted genetic therapies. This study aimed to create consensus guidelines for the diagnosis and management of SSADHD. Thirty relevant statements were …


Expanding The Access To Kidney Transplantation: Strategies For Kidney Transplant Programs, Angie Nishio Lucar, Ankita Patel, Shikha Mehta, Anju Yadav, Mona Doshi, Megan Urbanski, Beatrice Concepcion, Neeraj Singh, M. Lee Sanders, Arpita Basu, Jessica Harding, Ana Rossi, Oluwafisayo Adebiyi, Milagros Samaniego-Picota, Kenneth Woodside, Ronald Parsons May 2024

Expanding The Access To Kidney Transplantation: Strategies For Kidney Transplant Programs, Angie Nishio Lucar, Ankita Patel, Shikha Mehta, Anju Yadav, Mona Doshi, Megan Urbanski, Beatrice Concepcion, Neeraj Singh, M. Lee Sanders, Arpita Basu, Jessica Harding, Ana Rossi, Oluwafisayo Adebiyi, Milagros Samaniego-Picota, Kenneth Woodside, Ronald Parsons

Department of Medicine Faculty Papers

Kidney transplantation is the most successful kidney replacement therapy available, resulting in improved recipient survival and societal cost savings. Yet, nearly 70 years after the first successful kidney transplant, there are still numerous barriers and untapped opportunities that constrain the access to transplant. The literature describing these barriers is extensive, but the practices and processes to solve them are less clear. Solutions must be multidisciplinary and be the product of strong partnerships among patients, their networks, health care providers, and transplant programs. Transparency in the referral, evaluation, and listing process as well as organ selection are paramount to build such …


Electrochemiluminescence Using Pencil Graphite Electrodes And Screen-Printed Carbon Electrodes Interfaced With A Simple Imaging System, Sandra Ehigiator May 2024

Electrochemiluminescence Using Pencil Graphite Electrodes And Screen-Printed Carbon Electrodes Interfaced With A Simple Imaging System, Sandra Ehigiator

Electronic Theses and Dissertations

Electrochemiluminescence (ECL) is a phenomenon whereby electrochemical reactions generate a product that is capable of emitting light. ECL’s high sensitivity, selectivity, extremely low background, and relatively simple instrumentation make it particularly well-suited for chemical sensing and biosensing strategies. Here we report a simple ECL imaging system based on a camera interfaced with a zoom lens to compare pencil graphite electrode (PGE) and screen-printed carbon electrode (SPCE) arrays as ECL platforms. With this system, ECL signals generated from tris(2,2′- bipyridine)ruthenium(II) chloride hexahydrate ([Ru(bpy)3]2+) using co-reactant tri-n-propylamine (TPA) were linear with respect to [Ru(bpy)3]2+ concentrations from 9 to 450 μM. Detection limits …


The Experiences Of Questbridge Scholars At Elite Universities, Karla J. Leybold May 2024

The Experiences Of Questbridge Scholars At Elite Universities, Karla J. Leybold

Electronic Theses and Dissertations

In this dissertation, I examined the experiences of QuestBridge Scholars attending three different elite universities that enroll more students from the top income quintile than from the lowest three income quintiles combined. The universities attended by participants in this study are among the few that are both need-blind and that fully meet students’ demonstrated financial need through grant and scholarship aid. Additionally, these universities have acceptance rates of no more than 10%. The QuestBridge organization’s mission is to match high-achieving, low-income students with elite institutions.

Data from participants were collected through an audio and video recorded interview using a semi-structured …


A Phenomenological Study Of The Experiences Of Undergraduate Students Who Participated In The Ronald E. Mcnair Postbaccalaureate Achievement Program, Alexandria C. Craft May 2024

A Phenomenological Study Of The Experiences Of Undergraduate Students Who Participated In The Ronald E. Mcnair Postbaccalaureate Achievement Program, Alexandria C. Craft

Electronic Theses and Dissertations

The purpose of this qualitative study was to explore the lived experiences of former McNair Program participants at a regional postsecondary institution in northeast Tennessee. More specifically, the study examined how past participants of a McNair Program perceived their program experiences related to their post-undergraduate educational endeavors and career pursuits. Although research has been conducted on McNair Programs, no research has been conducted on the lived experiences of individuals who participated in a McNair Program in northeast Tennessee within the last two decades, and little to no research has been conducted to identify the program components that former participants believe …


Navigating New Frontiers: A Narrative Of Cte Administrators Leading Rural Innovation, Claire Bass May 2024

Navigating New Frontiers: A Narrative Of Cte Administrators Leading Rural Innovation, Claire Bass

Electronic Theses and Dissertations

Public school districts play a pivotal role in the well-being of rural communities. To help mitigate the impact of labor market trends, societal shifts, and the skilled labor shortage, rural schools are in the initial stages of expanding innovative career pathways. As such, career and technical education (CTE) administrators serve their rural communities by facilitating robust career pathways to support local labor markets. Due to a skilled labor shortage, a declining labor force participation rate, and a rapidly evolving labor market, there is a lack of qualified and certified personnel to fill industry jobs (Davis et al., 2022). School districts …


P300 Event-Related Potential Responses To Self-Relevant Stimuli, Jordan Razzak May 2024

P300 Event-Related Potential Responses To Self-Relevant Stimuli, Jordan Razzak

Electronic Theses and Dissertations

Previous literature has suggested an apparent P300 sensitivity to self-relevant stimuli. To further explore this relationship, we asked participants to submit 10 photos, each of a particular category (e.g. footwear, plants), to be used as either targets or distractors in a given condition of an oddball task. Furthermore, we attempted to see whether the effect of self-relevance on the P300 could be induced in a participant by allowing them to study a set of unique photos which would then be used as targets. Our analysis suggested that P300 amplitude elicited in response to self-relevant stimuli used as targets was statistically …


Exploring The Lived Experience Of Self-Care In Young Adults With Type 2 Diabetes, Holly Berry-Price May 2024

Exploring The Lived Experience Of Self-Care In Young Adults With Type 2 Diabetes, Holly Berry-Price

Electronic Theses and Dissertations

Introduction

The prevalence of prediabetes in adults aged 18 or older was as high as 38% between 2017-2020. Youth-onset T2DM is a more aggressive phenotype than T2DM that occurs later in life. Young adults with T2DM have poorer health outcomes, lose an average of 15 years of life, all resulting in significant economic burden impacting the person. Current self-management interventions do not improve health outcomes in young adults with T2DM.

Purpose

The purpose of this research was to explore the self-care experiences of young adults living with T2DM.

Methods

Existential hermeneutic phenomenology informed the research. Inclusion criteria as follows: adults …


An Assessment Of The Current State Of Nursing Homes In The United States, Southern Region, And Tennessee, Nicole Galler May 2024

An Assessment Of The Current State Of Nursing Homes In The United States, Southern Region, And Tennessee, Nicole Galler

Electronic Theses and Dissertations

Introduction: Nursing homes throughout the U.S. have faced unprecedented challenges in recent years because of staffing shortages, and under-investment, especially since the COVID-19 pandemic. To gain insight into the current state of nursing homes, this study examined nursing home characteristics, quality, and accessibility from a national, regional and state perspective.

Methods: This cross-sectional study used secondary data from the Centers for Medicare and Medicaid Services, American Community Survey, Medicare Beneficiary, and the Tennessee Department of Health. Nursing home characteristics and quality were assessed through bivariate and multivariate regression in the U.S. Assessment of HHS Region 4 nursing home characteristics and …


The Women’S Renaissance: An Analysis Of Gender Expectations And Experiences In Early Modern Europe, Taryn Shelnutt-Beam May 2024

The Women’S Renaissance: An Analysis Of Gender Expectations And Experiences In Early Modern Europe, Taryn Shelnutt-Beam

Electronic Theses and Dissertations

In 1976 Joan Kelly released her influential article “Did Women have a Renaissance?” Kelly argued that women did not enjoy any of the benefits of the period. Rather, she claimed, the lives of women were actually worse after the 1400s than they had been before. Since 1976, new primary documents authored by women have been discovered. Moreover, new access to relevant writings by authors like Francesco Barbaro, Pier Vergerio, Leonardo Bruni, Juan Luis Vives, and Erasmus make revisiting Kelly’s arguments possible. This thesis uses a sample of these texts to explore women’s experiences and create innovative avenues to explore in …