Medicine and Health Sciences Commons^™

Historical Review: More Than Two Decades Understanding The Genetic Architecture Of Hemostasis And Thrombosis, Maria Sabater-Lleal, Florian Thibord, Paul S De Vries, Jennifer Huffman, Alisa S Wolberg, Charles J Lowenstein, Alanna C Morrison, Andrew D Johnson, Nicholas L Smith

Faculty, Staff and Student Publications

From the beginning of the millennium and the development of genome-wide analyses, the technical advances and remarkable increase in research sample sizes have led to an escalating number of discoveries revealing genetic determinants of levels of the main factors regulating hemostasis and thrombosis and demonstrating a clear polygenic complex regulation of most coagulation factors. These discoveries have been useful to understand the biology underlying hemostasis regulation and to understand risk of associated thrombotic disease, such as venous thromboembolism, coronary artery disease, and ischemic stroke. In this historical review, we outline the main discoveries in genetic studies of coagulation factors (fibrinogen …

First Mammography Screening Participation And Breast Cancer Incidence And Mortality, Forruk Ahmed, Anna Aleksyeyeva, Oman Balan, Ashley Hassang

Publications and Research

This population-based cohort study evaluated the long-term relationship between initial participation in mammography screening and subsequent breast cancer outcomes among approximately 432,000 women in Stockholm, Sweden. Women were invited to their first screening between 1991 and 2020 at ages 40 or 50 and followed for up to 25 years through national health registries. Overall, 32% did not attend their initial screening. Non-attenders were significantly less likely to participate in later screening rounds and were more likely to be diagnosed with advanced disease, showing 1.5-fold higher odds of stage III and more than 3.5-fold higher odds of stage IV breast cancer …

Through The Eyes Of Time, Shaneece Prince, Steven Indelicato

Publications and Research

Frames have been a staple throughout history, however in recent times, a trend of having multiple pairs of glasses opposed to one, life lasting pair, has emerged. As a result, frames have piled up in landfills contributing to the polluting of our environment. Through the analysis of previously recorded studies and statistics, conclusions of the eyewear industry's growing impact on society and the planet were formed.

Millions of frames are in constant circulation, studies show that up to 31% of spectacle wearers out of a group of 375, disposed of their eyewear in the trash. The lifespan of popular eyewear …

Design Of An Open-Label Extension Trial Of Nerandomilast (Bi 1015550) In Patients With Idiopathic Pulmonary Fibrosis And Progressive Pulmonary Fibrosis (Fibroneer™-On), Wim A Wuyts, Luca Richeldi, Shervin Assassi, Arata Azuma, Vincent Cottin, Anna-Maria Hoffmann-Vold, Michael Kreuter, Justin M Oldham, Fernando J Martinez, Claudia Valenzuela, Marlies S Wijsenbeek, Madhu Kanakapura, Alexandra James, Gerrit Weimann, Cyril Drzewuski, Carl Coeck, Toby M Maher

Faculty, Staff and Student Publications

Background: There is a need for more effective treatments for idiopathic pulmonary fibrosis (IPF) and progressive pulmonary fibrosis (PPF). Nerandomilast (BI 1015550), an oral preferential inhibitor of phosphodiesterase 4B, is being evaluated in two randomized Phase III trials: FIBRONEER™-IPF (NCT05321069) and FIBRONEER™-ILD (NCT05321082). FIBRONEER™-ON is an open-label extension (OLE) of these studies that will evaluate the long-term safety and efficacy of nerandomilast. Here, we describe the study design of the OLE.

Methods: This prospective 98-week OLE will follow the Phase III parent trials, which are currently underway with 1177 patients enrolled in FIBRONEER™-IPF and 1178 patients …

Can Cta-Based Machine Learning Identify Patients For Whom Successful Endovascular Stroke Therapy Is Insufficient?, Jerome A Jeevarajan, Yingjun Dong, Anjan Ballekere, Sergio Salazar Marioni, Arash Niktabe, Rania Abdelkhaleq, Sunil A Sheth, Luca Giancardo

Faculty, Staff and Student Publications

Background and purpose: Despite advances in endovascular stroke therapy (EST) devices and techniques, many patients are left with substantial disability, even if the final infarct volumes (FIVs) remain small. Here, we evaluate the performance of a machine learning (ML) approach by using pretreatment CTA to identify this cohort of patients that may benefit from additional interventions.

Materials and methods: We identified consecutive subjects with large vessel occlusion (LVO) acute ischemic stroke (AIS) who underwent EST with successful reperfusion in a multicenter prospective registry cohort. We included only subjects with FIV < 30 mL and recorded 90-day outcome (mRS). A deep learning model was pretrained and then fine-tuned to predict 90-day mRS 0-2 by using pretreatment CTA images (DeepsymNet-v3 model pretrained on radiology reports and fine-tuned on detection of unexpected clinical outcomes using brain CTA images [DSN-CTA] model). The primary outcome was the predictive performance of the DSN-CTA model compared with a logistic regression model with clinical variables, measured by the area under the receiver operating characteristic curve (AUROC).

Results: The DSN-CTA model was pretrained on 1542 subjects and …

Acceptability Of Active And Sham Home-Based Transcranial Direct Current Stimulation In Major Depression: Mixed Methods Qualitative Analysis In A Randomised Controlled Trial, Peter J Lagerberg, Rachel D Woodham, Sudhakar Selvaraj, Nahed Lajmi, Harriet Hobday, Gabrielle Sheehan, Ali-Reza Ghazi-Noori, Maheen Rizvi, Sarah S Kwon, Paulette Orhii, Rodrigo Machado-Vieira, Jair C Soares, Allan H Young, António R Fidalgo, Hakimeh Rezaei, Cynthia H Y Fu

Faculty, Staff and Student Publications

Purpose: Transcranial direct current stimulation (tDCS) is a novel non-invasive brain stimulation therapy that is a potential treatment for major depressive disorder (MDD). Acceptability impacts patient preference, treatment adherence and outcomes, however, it has typically been assessed through measures of attrition, self-reported satisfaction levels, or adverse events. We sought to explore participant acceptability using structured questionnaires and individual interviews.

Methods: Acceptability was assessed in a fully remote, multisite, double-blind, placebo-controlled, randomized superiority trial of a 10-week course of home-based tDCS for MDD. Questionnaires were conducted at baseline and at the 10-week end of treatment. Participants were 174 adults (120 women) …

Hsp90 Buffers Deleterious Genetic Variations In Brca1, Brant Gracia, Xing-Han Zhang, Patricia Montes, Tin Chanh Pham, Min Huang, Junjie Chen, Georgios Ioannis Karras

Faculty, Staff and Student Publications

Protein-folding chaperone heat shock protein 90 (HSP90) buffers genetic variation in diverse organisms, but the clinical significance of HSP90 buffering in human disease remains unclear. Here, we show that HSP90 buffers mutations in the BRCT domain of BRCA1. HSP90-buffered BRCA1 mutations result in protein variants that retain interactions with partner proteins and strongly rely on HSP90 for protein stability and function in cell survival. Moreover, HSP90-buffered BRCA1 variants confer poly (ADP-ribose) polymerase (PARP) inhibitor resistance in cancer cells. Low-level HSP90 inhibition overcomes this resistance, revealing a cryptic and mutant-specific HSP90-contingent synthetic lethality. Furthermore, by stabilizing metastable variants across the entirety …

Exploring Veterans' Experiences And Perceptions Of Mental Health Support: A Comparative Study Of Va Services Versus Civilian Mental Health Services, Jameelah Johnson

Doctoral Dissertations and Projects

This phenomenological investigation aimed to describe and interpret the experiences of veterans who received mental health care from veterans at Veterans Administration (VA) facilities and civilian healthcare providers in the Mid-Atlantic region. The investigation examined the complex issues veterans encounter when accessing mental healthcare through both VA services and civilian providers. The research investigated veterans' views on essential elements such as trustworthiness, cultural competence within care systems, accessibility to services, and the quality of therapeutic relationships. The framework helped us comprehend how veterans’ attitudes, together with their subjective norms and perceived behavioral control, shape their decisions about using mental health …

The Impact Of Education And Awareness In Influencing Lifestyle Behaviors That Prevent And Treat Sarcopenia In Older Adults: A Mixed-Methods Cross-Sectional Research Study, Alan Lynn Jones

Doctoral Dissertations and Projects

This mixed-methods, cross-sectional study assessed the current level of knowledge and awareness among people aged 50 and older about sarcopenia, as well as their willingness to adopt lifestyle changes that could prevent or reverse the condition as they age. The study aimed to determine whether a lack of awareness and knowledge is linked to current lifestyle behaviors that contribute to or protect against the development of the disease. The population included men and women 50 and older, living independently in the community with no prior diagnosis of sarcopenia. The study used a custom-designed questionnaire and semi-structured interviews. A total of …

Impact Of A Pandemic On Clinical Research Organization Ethics: A Case Study, Supakan Apiratanapimonchai

Doctoral Dissertations and Projects

The purpose of this research is to examine the post-COVID ethical issues among clinical trials at clinical research organizations (CROs) in the Eastern region. This research is theoretically underpinned by the premise of evaluating the impact of post-COVID on data transparency, ethical guidelines, and protocol compliance. The institutional theory posits that insights gained from this comparative analysis will also contribute to the broader discourse on safeguarding research integrity. According to Yin, case studies are the most beneficial study design to be used, consisting of quantitative approaches (Yin, 2018). The data collected from clinical research associates (CRAs) with experience working with …

Grapes Cure Cancer: My First Molecular Docking Analysis Of Resveratrol Binding To Anti-Apoptotic Protein Bcl-2: In Silico, Sydni Ann Kolokoltsev, Vishwas Joshi

Publications and Research

B-cell lymphoma 2 (BCL-2) is an anti-apoptotic protein frequently overexpressed in cancer, enabling tumor cells to evade programmed death. Resveratrol, a grape-derived polyphenol, has reported anticancer properties. Here we performed in silico docking of resveratrol to human BCL-2 using AutoDock Vina. The best-ranked pose exhibited a predicted binding free energy of 8.0 kcal/mol and formed at least one short hydrogen bond (~1.8 Å) with pocket residues. These results support further evaluation of resveratrol as a potential modulator of BCL-2-mediated apoptosis.

Revealing The Nervous System Requirements Of Alzheimer Disease Risk Genes In Drosophila, Jennifer M Deger, Shabab B Hannan, Mingxue Gu, Colleen E Strohlein, Lindsey D Goodman, Sasidhar Pasupuleti, Zahid Shaik, Liwen Ma, Yarong Li, Jiayang Li, Morgan C Stephens, Michal Tyrlík, Zhandong Liu, Ismael Al-Ramahi, Juan Botas, Chad A Shaw, Oguz Kanca, Hugo J Bellen, Joshua M Shulman

Faculty, Staff and Students Publications

Most Alzheimer disease (AD) susceptibility genes have poorly understood roles in the central nervous system (CNS). To address this gap, we systematically characterized 100 conserved candidate AD risk genes using a cross-species strategy in the fruit fly, Drosophila melanogaster. Genes were prioritized based primarily on human functional genomic evidence. We generated custom loss-of-function alleles for each of the conserved fly orthologs. Most of the genes are expressed in the adult brain, including 24 neuron- and 13 glia-specific expression patterns. Overall, we identify 50 candidate AD risk gene homologs with requirements for CNS structure or function, including 18 whose loss of …

Super-Fast, Super-Early: High-Frequency Oscillations May Be A Prelude To Alzheimer's Dementia In Down Syndrome, Manuel Silva-Pérez, Jeannie Chin

Faculty, Staff and Students Publications

Alzheimer's disease (AD) dementia has near full penetrance in adults with Down syndrome (DS) and is strongly linked to late-onset myoclonic epilepsy in Down syndrome (LOMEDS). However, promising biomarkers of epileptogenicity, such as high-frequency oscillations (HFOs >250 Hz), have not been studied. This study is the first to use wideband polysomnography in DS to investigate if HFOs occurred and preceded AD dementia and LOMEDS. Methods: Wideband (0.1 to 500 Hz, 2048 Hz) polysomnography was performed using the international 10–20 system. HFOs were automatically detected during slow-wave sleep, followed by manual review. Results: Fourteen individuals with DS and five age-matched euploid …

Functional Classification Of Platelet Gene Variants Using Crispr Hdr In Cd34+ Cell-Derived Megakaryocytes, Yasuhiro Kosaka, Brandon Lopez, Nina Kishimoto, Shancy Jacob, Emilie Montenont, Rodrigo Huallanca, Graeson Coughenour, Jorge Di Paola, Justyne Ross, Kristy Lee, Matthew T Rondina, Paul F Bray, Jesse W Rowley

2020-Current year OA Pubs

The interpretation of genetic variants in inherited diseases, such as inherited platelet disorders (IPDs), remains a major clinical challenge, as most are classified as variants of uncertain significance (VUSs). A key barrier to functional evaluation is the lack of accessible, lineage-appropriate assays that reliably reflect native gene regulation and cell-specific biology. To address this gap, we developed CRIMSON HD (CRISPR-edited megakaryocytes [MKs] for surveying platelet variant functions through homology-directed repair [HDR]), a CRISPR-Cas9 HDR-based genome-editing platform applicable to CD34

Discovery Of A Small Molecule Tlr3 Agonist Adjuvant, Branden Lee, Danica Dong, Etsuro Nanishi, John Mark Awad, Kimia Abedi, Yoshine Saito, Francesco Borriello, Soumik Barman, Byron Brook, Aisling Kelly, Manisha Menon, Constance Marques-Mourlet, Maansi Gupta, Ida Lister, Chiwoo Oh, Kevin Lyskawa, Morgan Goetz, Kristina Walker, Wing Ki Cheng, Spencer Brightman, Pankaj Sharma, Timothy O'Meara, Katherine Chew, Daniel Vieira, Kevin Ryff, Cali Sweitzer, Sanya Thomas, Simon Van Haren, Matthew Pettengill, Hyuk-Soo Seo, Sirano Dhe-Paganon, Wei Zhang, Ofer Levy, David Dowling

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Pattern-recognition receptor (PRR) agonists are valuable agents across multiple medical applications, from vaccinology to immune-oncology. However, well-defined and potent small molecule agonists for many PRRs still await discovery and development. Screening of chemical libraries of ~200,000 small molecules for maturation of human monocytic cells by quantifying NF-κB activation and cell adherence was completed. From this screen, we selected a thiazole benzamide derivative, PVP-057, for its robust immunomodulatory properties, low toxicity profile, and concentration-dependent activity. In vitro investigation of pathway and receptor activation reveals that PVP-057 is a Toll-like receptor 3 (TLR3) agonist. As a single-component adjuvant, administered intramuscularly or intradermally …

Comparing Isocitrate Dehydrogenase Inhibitors With Procarbazine, Lomustine, And Vincristine Chemotherapy For Oligodendrogliomas, Gerardo Duran, Diego Pichardo-Rojas, Ahmed Hashim Ali, Peter Passias, Angela Downes, Wilson Z Ray, Gregory J Zipfel, Hakeem J Shakir, Andrew Bauer, Andrew Jea, Ian F Dunn, Jeffrey A Zuccato, Christopher S Graffeo, M Burhan Janjua

2020-Current year OA Pubs

The abstract has been submitted for presentation to the AANS 2026 meeting being held in San Antonio, TX, USA.

Brain Metabolic-Functional (De)Coupling From Health To Glioma Dysfunction, G Vallini, G Baron, E Silvestri, T Volpi, A G Vlassenko, M S Goyal, A Chiuso, D Cecchin, M Corbetta, A Bertoldo

2020-Current year OA Pubs

The interplay between brain metabolism and function supports the brain's adaptive capacity in cognitively demanding processes. Prior work has linked glucose metabolism to resting-state fMRI activity, but often overlooks both hemodynamic confounders in the BOLD signal and the brain's dynamic nature. To address this, we employed a novel effective connectivity decomposition, separating symmetric partial covariance, capturing "true" statistical dependencies between regions, from antisymmetric differential covariance, reflecting directional brain flow. In 42 healthy subjects, we show that partial covariance corresponds to metabolic connectivity across regions, while node directionality relates to standardized uptake value ratio, a proxy for local glucose consumption. We …

Optimizing Clinical Monitoring And Management Guidelines For Capivasertib In Hr-Positive/Her2-Negative Advanced Breast Cancer: Expert Opinion, Neil M Iyengar, Joyce A O'Shaughnessy, Heather N Moore, Erika Hamilton, Komal L Jhaveri, Cynthia X Ma, Karen Tedesco, Monali Vasekar, Sarah Donahue, Hope S Rugo

2020-Current year OA Pubs

Capivasertib, an AKT inhibitor, approved in combination with fulvestrant for hormone receptor-positive, human epidermal growth factor receptor 2-negative advanced breast cancer with ≥1 PIK3CA, AKT1, and/or PTEN alterations, significantly improved progression-free survival in the CAPItello-291 phase 3 trial. However, capivasertib-associated adverse events of diarrhea, rash, and hyperglycemia may require proactive management. This article provides practical recommendations to support prevention and early intervention to optimize adherence and treatment outcomes.

Enhancing Intergenerational Health In Nigeria: Peripartum As Critical Life Stage For Cardiovascular Health (Enhance-Cvh) Study: Findings From Pre-Implementation Using The Updated Consolidated Framework For Implementation Research (Cfir 2.0), Julia D López, Cecilia Nartey, Debra Haire-Joshu, Victor G Dávila-Román, Mark D Huffman, Clementina E Okoro, Et Al.

2020-Current year OA Pubs

BACKGROUND: Pregnancy is a crucial period to improve cardiovascular health (CVH) for mothers and their families. The current study emphasizes framework-guided factors that influence the adaptation of an evidence-based intervention (Parents as Teachers and Healthy Eating Active Living Taught at Home [PAT + HEALTH]) to support healthy gestational weight gain and postpartum weight management among pregnant women with obesity and their infants in Nigeria.

METHODS: From May to June 2023, 43 in-depth interviews were conducted with 11 parents, 15 community health extension workers (CHEWs)/health educators, and 17 policymakers/ healthcare supervisors in the Federal Capital Territory, Nigeria. Additionally, nine focus groups …

Cardiovascular Disease And Pregnancy: Clinical Outcomes From A Tertiary Center Experience In Saudi Arabia, Nouf Alanazi, Sara Abou Al-Saud, Wareef Almousa, Ghada Alshalan, Jumana Alqahtani, Munira Alsharif, Abrar Alshahrani, Hessah Alothman

Journal of the Saudi Heart Association

Cardiovascular disease complicates pregnancy and elevates maternal and fetal risks. Local data in Saudi Arabia is scarce. This study examines pregnancy outcomes in women with cardiovascular disease at a tertiary center. A retrospective cohort study of 103 cardio-obstetric patients (2015-2023) at King Khalid University Hospital. Multivariable logistic regression identified risk factors for adverse maternal and neonatal outcomes, with significance at p

Digital Transformation Management And Organizational Performance: The Case Of Albanian Healthcare Sector, Oltjan Hamza

International Journal of Business and Technology

Purpose - The integration of digital technologies into the healthcare system is essential for improving both operational efficiency and quality of services. This study examines the relationship between digital transformation management and organizational performance in the healthcare sector in Albania, with particular focus on the mediating role of leadership in digital transformation and the digital skills of the healthcare staff. Methodology - The study employ a quantitative method through a structured questionnaire using a Likert scale, which was distributed to 93 healthcare sector employees in public and private institutions in Albania. Findings - Data collected through the survey were analyzed …

Physicochemical And Biological Evaluation Of Aque-Duct Water In Kosovo, Demokrat Nuha, Arbër Bytyçi, Fisnik Laha, Pajtim Bytyçi, Osman Fetoshi

International Journal of Business and Technology

The study analyzes the water quality of aqueducts in Drenas, Prishtina, Lipjan, and Shtime, Kosovo, in June and August 2024. The parameters assessed include physicochemical properties like color, turbidity, pH, free chlorine, chlorides, conductivity, and metal ions (Fe²⁺, Mn²⁺, Al), alongside biological indicators such as coliform bacteria. The results indicate that most parameters are within acceptable limits, reflecting overall good water quality. However, variations were noted: Prishtina's low chlorine levels may pose microbial risks, and the increased chlorides and conductivity in Lipjan suggest the impact of urban runoff or industrial activities. Seasonal shifts, especially during August, influenced the concentration of …

Bone Ring Technique, Sinan Arllati, Kreshnik Syka

International Journal of Business and Technology

Tooth extraction is accompanied by vertical reduction of the alveolar ridge as a result of the bone atrophy. In cases where we are dealing with the upper jaw, changes in alveolar bone dimensions can also be accompanied by pneumatization of the maxillary sinus. These changes are even more often after the extraction of the maxillary first and second molars, and especially after the extraction of two or more teeth in a row in the distal maxillary region. Different techniques and materials are used to provide adequate bone support for dental implants in these cases. In the presented case, the autogenous …

Determination Of General Parameters, Total Phenols And Total Flavonoids Content For The Assessment Of The General Quality Of Herbs From The Two Sideritis Species (S. Scardica And S. Raeseri), Bujar Qazimi, Shpend Dragusha, Hyrije Koraqi, Gentiana Balaj, Vesel Qazimi

International Journal of Business and Technology

The determination of general parameters (loss on drying test, total ash, and ash insoluble in dilute HCl) as well as the determination of total phenols content (TPC) and total flavonoids content (TFC) were determined in the aerial part of Sideritis scardica and S. raeseri collected in different localities in North Macedonia and Albania. In the analyzed samples of S. scardica and S. raeseri loss by drying was 6.65-8.01% and 7.08-8.42%, the content of total ash was 4.91-7.41% and 4.72-7.74%, while the content of total ash insoluble in diluted HCl was 0.13-0.27% and 0.05-0.75%, respectively. The amounts of phenolics content and …

Enhancing Sepsis Prevention In Long-Term Care Facilities: Development Of An Infection Prevention Sepsis Toolkit, Emmalyn A. Tuhin

Student Scholarly Projects

Objectives: The purpose of this Doctor of Nursing Practice (DNP) project was to create, validate, and refine an Evidence-Based Sepsis Prevention Toolkit to enhanced early sepsis recognition and interprofessional coordination of care within long-term care facilities (LTCFs).

Background: Sepsis remains a leading cause of mortality and preventable transfer to the hospital for the elderly residents within the LTCFs. A significant practice gap persists because sepsis in this population often presents atypically, resulting in delayed or inaccurate diagnosis and treatment.

Methods: This project was guided by the following PICOT question: For healthcare professionals caring for patients aged 65 years and older …

Improving Palliative Care Knowledge And Intentions Among Great Plains American Indians: Efficacy Results From A Randomized Clinical Trial Testing A Culture-Centric Palliative Care Message, Mary J. Isaacson, Kah Meng (Charlie) Soh, Christopher S. Wichman, Gina Johnson, Kelly Le Beaux, Semhar Michael, Lisa Sparks, Karla M. Hunter

Communication Faculty Articles and Research

Background

Methods

Results

Cv: Mirelya Marquez (Radiography), Mirelya Marquez

Rehabilitation and Health Sciences Department Faculty Curricula Vitae

No abstract provided.

Tracking Wellness: A Semester Long Analysis Of Daily Habits And Lifestyle Choices, Elsa Garcia-Nguyen

Student Scholar Symposium Abstracts and Posters

Throughout the course of a semester, personal data was collected and analyzed to better understand how daily habits influence physiological and behavioral patterns. Data was recorded each day across multiple variables including caffeine intake, TikTok screen time, amount of sleep, amount of steps, distance traveled, allergy medicine adherence, cooking dinner or eating out, energy level, mediation practice, and amount of time studying. The purpose of this project was to explore how these daily lifestyle choices may relate to overall physical and mental well-being. By consistently tracking these behaviors, a dataset was created that captures patterns in daily habits and routines …

Selenium Nanoparticles As Versatile Delivery Tools, Amir Nasrolahi Shirazi, Rajesh Vadlapatla, Ajoy Koomer, Kyle Yep, Keykavous Parang

Pharmacy Faculty Articles and Research

Selenium nanoparticles (SeNPs) have emerged as promising metal-based nanoparticles for drug delivery due to their unique physicochemical properties, intrinsic bioactivity, and biocompatibility. SeNPs offer a lower toxicity, higher bioavailability, and flexibility to be customized for surface chemistry compared to traditional selenium compounds. Advances in synthetic strategies, including chemical reduction, green biosynthesis, and surface functionalization with polymers, peptides, or ligands, have improved their stability, targeting capability, and circulation time. SeNP-based systems have demonstrated unique anticancer, antimicrobial, and anti-inflammatory activities, as they can function as drug carriers and active therapeutic agents. The surface of SeNPs has been functionalized with ligands such as …

Cv: Mirelya Marquez (Radiography), Mirelya Marquez

Health Sciences Department Curricula Vitae

No abstract provided.