Medicine and Health Sciences Commons^™

Prediction Of Mild Cognitive Impairment Status: Pilot Study Of Machine Learning Models Based On Longitudinal Data From Fitness Trackers, Qidi Xu, Yejin Kim, Karen Chung, Paul Schulz, Assaf Gottlieb

Faculty, Staff and Student Publications

BACKGROUND: Early signs of Alzheimer disease (AD) are difficult to detect, causing diagnoses to be significantly delayed to time points when brain damage has already occurred and current experimental treatments have little effect on slowing disease progression. Tracking cognitive decline at early stages is critical for patients to make lifestyle changes and consider new and experimental therapies. Frequently studied biomarkers are invasive and costly and are limited for predicting conversion from normal to mild cognitive impairment (MCI).

OBJECTIVE: This study aimed to use data collected from fitness trackers to predict MCI status.

METHODS: In this pilot study, fitness trackers were …

Targeted Sequencing For Hereditary Breast And Ovarian Cancer In Brca1/2-Negative Families Reveals Complex Genetic Architecture And Phenocopies, Jocelyn N Plowman, Evanjalina J Matoy, Lavanya V Uppala, Samantha B Draves, Cynthia J Watson, Bridget A Sefranek, Mark L Stacey, Samuel P Anderson, Michael A Belshan, Elizabeth E Blue, Chad D Huff, Yusi Fu, Holly A F Stessman

Faculty, Staff and Student Publications

Approximately 20% of breast cancer cases are attributed to increased family risk, yet variation in BRCA1/2 can only explain 20%-25% of cases. Historically, only single gene or single variant testing were common in at-risk family members, and further sequencing studies were rarely offered after negative results. In this study, we applied an efficient and inexpensive targeted sequencing approach to provide molecular diagnoses in 245 human samples representing 134 BRCA mutation-negative (BRCAX) hereditary breast and ovarian cancer (HBOC) families recruited from 1973 to 2019 by Dr. Henry Lynch. Sequencing identified 391 variants, which were functionally annotated and ranked based on their …

In Vitro Data Suggest A Role For Pms2 Kozak Sequence Mutations In Lynch Syndrome Risk, Evanjalina J Matoy, Jocelyn N Plowman, Cynthia J Watson, Michael A Belshan, Elizabeth E Blue, Chad D Huff, Holly A F Stessman

Faculty, Staff and Student Publications

This study investigates the role of 5′ UTR PMS2 Kozak sequence genetic variation in cancer risk. It accomplishes this through the development of a mid-throughput reporter assay where variants can be tested for protein translation efficiency. The results highlight the importance of continued study of the Kozak sequence related to human disease.

Accuracy, Thoroughness, And Quality Of Outpatient Primary Care Documentation In The U.S. Department Of Veterans Affairs., Michael Weiner, Mindy E Flanagan, Katie Ernst, Ann H Cottingham, Nicholas A Rattray, Zamal Franks, April W Savoy, Joy L Lee, Richard M Frankel

Health Services and Informatics Research

BACKGROUND: Electronic health records (EHRs) can accelerate documentation and may enhance details of notes, or complicate documentation and introduce errors. Comprehensive assessment of documentation quality requires comparing documentation to what transpires during the clinical encounter itself. We assessed outpatient primary care notes and corresponding recorded encounters to determine accuracy, thoroughness, and several additional key measures of documentation quality.

METHODS: Patients and primary care clinicians across five midwestern primary care clinics of the US Department of Veterans Affairs were recruited into a prospective observational study. Clinical encounters were video-recorded and transcribed verbatim. Using the Physician Documentation Quality Instrument (PDQI-9) added to …

Involvement Of The Choroid Plexus In Alzheimer's Disease Pathophysiology: Findings From Mouse And Human Proteomic Studies, Aurore Delvenne, Suzanne E Schindler, Et Al.

2020-Current year OA Pubs

BACKGROUND: Structural and functional changes of the choroid plexus (ChP) have been reported in Alzheimer's disease (AD). Nonetheless, the role of the ChP in the pathogenesis of AD remains largely unknown. We aim to unravel the relation between ChP functioning and core AD pathogenesis using a unique proteomic approach in mice and humans.

METHODS: We used an APP knock-in mouse model, APP

RESULTS: ChP tissue proteome was dysregulated in APP

CONCLUSIONS: Together, our findings support the hypothesis of ChP dysfunction in AD. These ChP changes were related to amyloid pathology. Therefore, the ChP could become a novel promising therapeutic target …

Enhancing Neoadjuvant Virotherapy's Effectiveness By Targeting Stroma To Improve Resectability In Pancreatic Cancer, Khandoker Usran Ferdous, Mulu Z. Tesfay, Aleksandra Cios, Randal S. Shelton, Conner Hartupee, Alicja Urbaniak, Jean Christopher Chamcheu, Michail N. Mavros, Emmanouil Giorgakis, Bahaa Mustafa, Camila C. Simoes, Isabelle R. Miousse, Alexei G. Basnakian, Omeed Moaven, Steven R. Post, Martin J. Cannon, Thomas Kelly, Bolni Marius Nagalo

School of Medicine Faculty Publications

About one-fourth of patients with pancreatic ductal adenocarcinoma (PDAC) are categorized as borderline resectable (BR) or locally advanced (LA). Chemotherapy and radiation therapy have not yielded the anticipated outcomes in curing patients with BR/LA PDAC. The surgical resection of these tumors presents challenges owing to the unpredictability of the resection margin, involvement of vasculature with the tumor, the likelihood of occult metastasis, a higher ratio of positive lymph nodes, and the relatively larger size of tumor nodules. Oncolytic virotherapy has shown promising activity in preclinical PDAC models. Unfortunately, the desmoplastic stroma within the PDAC tumor microenvironment establishes a barrier, hindering …

The Evolving Use Of Gold Nanoparticles As A Possible Reversal Agent For The Symptoms Of Neurodegenerative Diseases: A Narrative Review, Alan D. Kaye, Kelly R. Sala, Drew Dethloff, Matthew Norton, Corey Moss, Michael J. Plessala, Alyssa G. Derouen, Yair Lopez Torres, Julian Kim, Sridhar Tirumala, Sahar Shekoohi, Giustino Varrassi

School of Medicine Faculty Publications

Neurodegenerative diseases are broadly hallmarked by impaired energy metabolism and toxic intracellular accumulations such as damaged organelles or reactive oxygen species (ROS). Gold nanoparticles readily cross the blood-brain barrier and increase nicotinamide adenine dinucleotide + hydrogen (NADH) oxidation to nicotinamide adenine dinucleotide (NAD+), which is vital for intracellular energy generation, cellular repair, and protection from ROS. Thus, the use of gold nanoparticles to treat and potentially reverse cellular injury seen in neurodegenerative disease has been an area of ongoing research. This systematic review explores current literature regarding the use of gold nanoparticle therapy in the treatment of neurodegenerative diseases such …

Long G4-Rich Enhancers Physically Interacts With Promoters Via A G4:G4 Dna-Based Mechanism, Jeffrey David Demeis

Graduate Theses and Dissertations (2019 - present)

Enhancers are genomic sequences that function as regulatory elements capable of increasing the transcription of a given gene often located at a considerable distance. The broadly accepted model of enhancer activation involves bringing an enhancer-bound activator protein complex into close spatial proximity to its target promoter through chromatin looping. Equally relevant to the work described herein, roles for guanine (G) rich sequences in transcriptional regulation are now widely accepted. Non-coding G-rich sequences are commonly found in gene promoters and enhancers, and various studies have described specific instances where G-rich sequences regulate gene expression via their capacity to form G-quadruplex (G4) …

Caregiver Attitudes Toward Sexual Behavior And Sex Education For Children With Down Syndrome, Shawna Urban

Walden Dissertations and Doctoral Studies

This quantitative correlational study investigates caregivers’ attitudes toward sexual behavior and sex education for children with Down syndrome, drawing upon the theories of reasoned action and planned behavior. Data was collected from a convenience sample of 112 caregivers. The analysis revealed significant positive associations between caregivers’ attitudes toward sexuality and their perspectives on sex education. Binary logistic regression indicated that higher POS scores predict increased likelihood of endorsing sexual behavior and supporting sex education for children with Down syndrome. Notably, demographic factors such as gender, age, and educational level did not significantly influence caregivers’ decisions regarding sex education support. The …

Deepface: Deep-Learning-Based Framework To Contextualize Orofacial-Cleft-Related Variants During Human Embryonic Craniofacial Development, Yulin Dai, Toshiyuki Itai, Guangsheng Pei, Fangfang Yan, Yan Chu, Xiaoqian Jiang, Seth M Weinberg, Nandita Mukhopadhyay, Mary L Marazita, Lukas M Simon, Peilin Jia, Zhongming Zhao

Faculty, Staff and Student Publications

No abstract provided.

The Association Of Vitamin D Levels And Dental Caries In Older Adults: A Cross-Sectional Study., Man Hung, Amir Mohajeri, Mahsa Sadri, Elahe Khodabandeh, Ibrahim Zeitoun, Martin S. Lipsky

Institute on Aging Publications

Most research examining vitamin D and dental caries focuses on children and younger adults. This study investigated the association between vitamin D levels and dental caries in older adults using data from the United States National Health and Nutrition Examination Survey from 2011 to 2016.

Mucosal Signatures Of Pathogenic T Cells In Hla-B*27+ Anterior Uveitis And Axial Spondyloarthritis, Michael A. Paley, Lynn M. Hassman, Grace L. Paley, Nicole Linskey, Ryan Agnew, Paulo Henrique Arantes De Faria, Annie Feng, Sophia Y. Li, Elisha D. O. Roberson, Philip A. Ruzycki, Ekaterina Esaulova, Jennifer Laurent, Lacey Feigl-Lenzen, Luke E. Springer, Chang Liu, Wayne M. Yokoyama, Et Al.

2020-Current year OA Pubs

HLA-B*27 was one of the first HLA alleles associated with an autoimmune disease, i.e., axial spondyloarthritis (axSpA) and acute anterior uveitis (B27AAU), which cause joint and eye inflammation, respectively. Gastrointestinal inflammation has been suggested as a trigger of axSpA. We recently identified a bacterial peptide (YeiH) that can be presented by HLA-B*27 to expanded public T cell receptors in the joint in axSpA and the eye in B27AAU. While YeiH is present in enteric microbiota and pathogens, additional evidence that pathogenic T cells in HLA-B*27-associated autoimmunity may have had a prior antigenic encounter within the gastrointestinal tract remains lacking. Here, …

Hybrid Inferior Pedicle Reduction Mammaplasty With Free Nipple Grafts In A Patient With Gigantomastia, Devin M. Melancon, Harel G. Schwartzberg, Genevieve E. Messa, Jonathan C. Boraski

School of Medicine Faculty Publications

Gigantomastia presents a unique set of challenges for preservation of the nipple-areola complex in patients undergoing reduction mammaplasty. Historically an indication for breast amputation and free nipple graft (FNG), gigantomastia is now commonly treated using pedicle-based reconstruction. We present a case combining these two surgical techniques, using an inferior-pedicle reduction with an FNG in the management of extreme breast hypertrophy with 11,300g in total resected. This case report shows that such a technique for gigantomastia reductions can combine the aesthetic benefits of a pedicled reduction with the reliability of FNGs. These benefits make the hybrid inferior pedicle reduction a useful …

Investigating Gene Functions And Single-Cell Expression Profiles Of De Novo Variants In Orofacial Clefts, Toshiyuki Itai, Fangfang Yan, Andi Liu, Yulin Dai, Chihiro Iwaya, Sarah W Curtis, Elizabeth J Leslie, Lukas M Simon, Peilin Jia, Xiangning Chen, Junichi Iwata, Zhongming Zhao

Faculty, Staff and Student Publications

Orofacial clefts (OFCs) are common congenital birth defects with various etiologies, including genetic variants. Online Mendelian Inheritance in Man (OMIM) annotated several hundred genes involving OFCs. Furthermore, several hundreds of de novo variants (DNVs) have been identified from individuals with OFCs. Some DNVs are related to known OFC genes or pathways, but there are still many DNVs whose relevance to OFC development is unknown. To explore novel gene functions and their cellular expression profiles, we focused on DNVs in genes that were not listed in OMIM. We collected 960 DNVs in 853 genes from published studies and curated these genes, …

Deepface: Deep-Learning-Based Framework To Contextualize Orofacial-Cleft-Related Variants During Human Embryonic Craniofacial Development, Yulin Dai, Toshiyuki Itai, Guangsheng Pei, Fangfang Yan, Yan Chu, Xiaoqian Jiang, Seth M Weinberg, Nandita Mukhopadhyay, Mary L Marazita, Lukas M Simon, Peilin Jia, Zhongming Zhao

Faculty, Staff and Student Publications

Orofacial clefts (OFCs) are among the most common human congenital birth defects. Previous multiethnic studies have identified dozens of associated loci for both cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP). Although several nearby genes have been highlighted, the "casual" variants are largely unknown. Here, we developed DeepFace, a convolutional neural network model, to assess the functional impact of variants by SNP activity difference (SAD) scores. The DeepFace model is trained with 204 epigenomic assays from crucial human embryonic craniofacial developmental stages of post-conception week (pcw) 4 to pcw 10. The Pearson correlation coefficient between …

Whole-Genome Sequences Reveal Zygotic Composition In Chimeric Twins, Christopher J Yoon, Obi L Griffith, Malachi Griffith, Et Al.

2020-Current year OA Pubs

While most dizygotic twins have a dichorionic placenta, rare cases of dizygotic twins with a monochorionic placenta have been reported. The monochorionic placenta in dizygotic twins allows in utero exchange of embryonic cells, resulting in chimerism in the twins. In practice, this chimerism is incidentally identified in mixed ABO blood types or in the presence of cells with a discordant sex chromosome. Here, we applied whole-genome sequencing to one triplet and one twin family to precisely understand their zygotic compositions, using millions of genomic variants as barcodes of zygotic origins. Peripheral blood showed asymmetrical contributions from two sister zygotes, where …

Health Disparities In Cervical Cancer: Estimating Geographic Variations Of Disease Burden And Association With Key Socioeconomic And Demographic Factors In The Us, Tara Castellano, Andrew K. Elhabr, Christina Washington, Jie Ting, Yitong J. Zhang, Fernanda Musa, Ezgi Berksoy, Kathleen Moore, Leslie Randall, Jagpreet Chhatwal, Turgay Ayer, Charles A. Leath

School of Medicine Faculty Publications

BACKGROUND: Despite advances in cervical cancer (CC) prevention, detection, and treatment in the US, health disparities persist, disproportionately affecting underserved populations or regions. This study analyzes the geographical distribution of both CC and recurrent/metastatic CC (r/mCC) in the US and explores potential risk factors of higher disease burden to inform potential strategies to address disparities in CC and r/mCC. METHODS: We estimated CC screening rates, as well as CC burden (number of patients with CC diagnosis per 100,000 eligible enrollees) and r/mCC burden (proportion of CC patients receiving systemic therapy not in conjunction with surgery or radiation), at the geographic …

National Estimates For The Percentage Of All Readmissions With Demographic Features, Morbidity, Overall And Gender-Specific Mortality Of Transcutaneous Versus Open Surgical Tricuspid Valve Replacement/Repair, Muhammad Shayan Khan, Abdul Baqi, Ayesha Tahir, Ghulam Mujtaba Ghumman, Waqas Ullah, Jay Shah, Yasar Sattar, Tanveer Mir, Zain Sheikh, Fnu Salman, Moaaz Baghal, Kritika Luthra, Vinod Khatri, Zainulabedin Waqar, Malik Waleed Zeb Khan, Mohammed Taleb, Syed Sohail Ali

Abington Jefferson Health Papers

BACKGROUND: The aim of the study was to determine national estimates for the percentage of all readmissions with demographic features, length of stay (LOS), cost analysis, comorbidities, complications, overall and gender-specific mortality and complications of transcutaneous tricuspid valve replacement/repair (TTVR) vs. open surgical tricuspid valve replacement/repair (open TVR).

METHODS: Data were extrapolated from the Nationwide Readmissions Database (NRD) 2015-19. Of the 75,266,750 (unweighted) cases recorded in the 2015 - 2019 dataset, 429 had one or more of the percutaneous approach codes as per the ICD-10 dataset, and 10,077 had one or more of the open approach codes.

RESULTS: Overall, the …

Occupational Therapy & Dyslexia Curriculum, Tiara Ortiz

Department of Occupational Therapy Entry-Level Capstone Projects

My capstone project, a truly innovative endeavor, was conducted in a school-based setting for children with dyslexia. I developed educational materials, distinct in their approach, for teachers and occupational therapists to implement individually or in a group setting. These materials comprise a curriculum that explicitly targets executive functioning and visual interventions, a novel and exciting approach to dyslexia treatment. The project was successfully implemented in the Bridge Program at the Christ School in Orlando, Florida, a private school program tailored to children with dyslexia. I was mentored by Dominque Kiefer, OTD, OTR/L, BCP, the Bridge Program's school-based occupational therapist.

Using An Evidence-Based Practice Nurse Recognition Practice To Improve Job Satisfaction, Hali Bianchi

Student Scholarly Projects

Practice Problem: The project targeted low job satisfaction and high nurse turnover in a Central Florida bone marrow transplant unit, impacting patient care and costs.

PICOT: (P) For registered nurses (RNs) on the bone marrow transplant unit, (I) does implementing an evidence-based practice employee recognition program (C) compared to no employee recognition program, (O) lead to an increase in job satisfaction (T) over 10 weeks?

Evidence: The evidence supported the effectiveness of meaningful recognition programs, such as personalized verbal acknowledgment from leadership, in boosting job satisfaction among nurses.

Intervention: The intervention involved nurse managers using a weekly employee recognition …

Nurse Retention Amid Workplace Adversity: Examining Strategies And Outcomes, Horace Smith

Student Scholarly Projects

Practice Problem: This project aimed to evaluate the effectiveness of nurse retention strategies in enhancing job satisfaction, focusing primarily on Emergency Department (ED) Registered Nurses (RNs). A comprehensive approach was adopted within the ED of a veteran hospital in the Southeast, aimed at promoting staff retention.

PICOT: The PICOT question guiding this project is as follows: In a veteran hospital's Emergency Room (ER) located in the southeast (P), how does the implementation of nurse retention strategies (I) compared to current standards (C) increase their job satisfaction (O) over a period of ten weeks (T)?

Evidence: This project …

Implementation Of A Standardized Acute Care Plan For Complex Care Medicine Service Patients: A Quality Improvement Initiative, Tracy Markwell

Doctor of Nursing Practice Scholarly Projects

Abstract

BACKGROUND: Care transition plans, locally called Acute Care Plans (ACPs), are created specifically for super utilizers of the Complex Care Medicine Service (CCMS) and are a target for improvement. The purpose of this project was to improve care for CCMS patients by developing, implementing, and evaluating a standardized CCMS ACP. A multidisciplinary approach was chosen to facilitate the transitions of care process during an admission or discharge from the hospital.

LOCAL PROBLEM: The purpose of the ACP is to get a quick summary of how to treat a patient when they come to the hospital. The ACPs are …

Implementing Pain Screening In A Parkinson’S Disease Clinic: A Quality Improvement Initiative, Anne Marie Desmond

Doctor of Nursing Practice Scholarly Projects

Background: Pain is a multifaceted, non-motor symptom often unnoticed and undertreated in Parkinson's disease (PD). PD pain is associated with decreased quality of life (QOL) and is found in 30-85% of PD patients. The effective diagnosis and treatment of PD pain could improve patient QOL. Barriers to appropriate diagnosis and treatment include a valid and reliable PD pain assessment tool. There was an opportunity to improve the assessment of PD-related pain at the movement disorder clinic in this suburban clinic of a tertiary safety net hospital. The local movement disorder clinic did not have a standardized PD-specific tool to assess …

Cellular Endosomal Potassium Ion Flux Regulates Arenavirus Uncoating During Virus Entry, Amelia B Shaw, Hiu Nam Tse, Owen Byford, Grace Plahe, Alex Moon-Walker, Samantha E Hover, Erica Ollmann Saphire, Sean P J Whelan, Jamel Mankouri, Juan Fontana, John N Barr

2020-Current year OA Pubs

Lymphocytic choriomeningitis virus (LCMV) is an enveloped and segmented negative-sense RNA virus classified within the

A Reinterpretation Of The Relationship Between Persistent And Resurgent Sodium Currents, Samuel P Brown, Ryan J Lawson, Jonathan D Moreno, Joseph L Ransdell

2020-Current year OA Pubs

The resurgent sodium current (I

Terahertz Tunable Three-Dimensional Photonic Jets, Behrooz Rezaei, Babak Yahyapour, Arash Darafsheh

2020-Current year OA Pubs

Highly localized electromagnetic field distributions near the "shadow-side" surface of certain transparent mesoscale bodies illuminated by light waves are called photonic jets. We demonstrated formation of three-dimensional (3D) tunable photonic jets in terahertz regime (terajets, TJs) by dielectric micro-objects -including spheres, cylinders, and cubes-coated with a bulk Dirac semimetal (BDS) layer, under uniform beam illumination. The optical characteristics of the produced TJs can be modulated dynamically through tuning the BDS layer's index of refraction via changing its Fermi energy. It is demonstrated that the Fermi energy of BDS layer has a significant impact on tuning the optical characteristics of the …

Brilacidin, A Novel Antifungal Agent Against Cryptococcus Neoformans, Camila Diehl, Dong-Gyu Kim, Tamara L Doering, Et Al.

2020-Current year OA Pubs

UNLABELLED:

IMPORTANCE: Invasive fungal infections have a high mortality rate causing more deaths annually than tuberculosis or malaria. Cryptococcosis, one of the most prevalent fungal diseases, is generally characterized by meningitis and is mainly caused by two closely related species of basidiomycetous yeasts,

The Role Of Positive Affect In Asthma Control And Symptom Severity In Adolescents, Brooke N. Jenkins, Logan T. Martin, Jill S. Halterman, Judith T. Moskowitz, Laura M. Glynn, Pornchai Tirakitsoontorn, Sunil Kamath, Zeev N. Kain

Psychology Faculty Articles and Research

Introduction

We test the effects of positive affect and its arousal subscale components of calm, wellbeing, and vigor on asthma control and symptom severity in adolescents with moderate to severe asthma. Additionally, we test whether positive affect (and its arousal components) moderate how stress impacts asthma control and symptom severity.

Methods

Adolescents with asthma (N = 66, ages 12–17) completed brief surveys 4 times a day for 7 days reporting on their positive affect, stress, and asthma symptom severity and conducted a morning peak expiratory flow assessment each day. Asthma control and psychological asthma triggers were assessed at the …

Spanish Translation Of The Expert Recommendations For Implementing Change (Eric) Compilation, Amelia E Van Pelt, Alejandra Paniagua-Avila, Amanda Sanchez, Stephanie Sila, Elizabeth D Lowenthal, Byron J Powell, Rinad S Beidas

2020-Current year OA Pubs

BACKGROUND: Most implementation science resources (e.g., taxonomies) are published in English. Linguistic inaccessibility creates a barrier to the conduct of implementation research among non-English-speaking populations, so translation of resources is needed. Translation into Spanish can facilitate widespread reach, given the large proportion of Spanish speakers around the world. This research aimed to systematically translate the Expert Recommendations for Implementation Change (ERIC) compilation into Spanish as an exemplar for the linguistic translation process.

METHODS: Using the World Health Organization guidelines, this work translated the ERIC compilation strategy names, short definitions, and thematic clusters through a three-step process: 1) forward translation into …

Gender-Specific Mental Health Outcomes In Central America: A Natural Experiment, Thea Nagasuru

Computer Science Summer Fellows

While COVID lockdown measures have had varying effects on the mental health of different demographics, several bodies of research have noted their disparate effect on women. Why is women's mental health more negatively impacted by lockdown measures, and how much more are they impacted than men? How can we predict and mitigate these negative effects on women? This paper aims to contribute to answering those questions by comparing COVID stringency measures and their effect on the gap in depression rates between men and women in two neighboring countries: Nicaragua and Honduras.