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2025

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Full-Text Articles in Medicine and Health Sciences

Enhancing Multidisciplinary Team Knowledge On The Effectiveness Of Heat Therapy For Lower Back Pain In Adults In An Outpatient Clinic, Glenys Hunter Mar 2025

Enhancing Multidisciplinary Team Knowledge On The Effectiveness Of Heat Therapy For Lower Back Pain In Adults In An Outpatient Clinic, Glenys Hunter

Walden Dissertations and Doctoral Studies

This Doctor of Nursing Practice project addressed the underutilization of heat therapy for lower back pain management at an outpatient clinic through an educational intervention aimed at enhancing multidisciplinary team knowledge. My project implemented a comprehensive educational program for 12 healthcare providers. The intervention included structured learning sessions with didactic presentations, case discussions, and hands-on demonstrations. Pre- and post-intervention assessments evaluated provider understanding of heat therapy's physiological mechanisms, clinical applications, safety considerations, and treatment protocols. Analysis revealed significant improvements in provider knowledge, with mean scores increasing from 33.33% pre-intervention to 92.25% post-intervention (p<0.001). Recommendations included integrating regular educational sessions into organizational development programs, developing standardized protocols, and creating patient education materials. The project demonstrated the effectiveness of structured educational interventions in improving provider knowledge while supporting broader implementation of non-pharmacological pain management strategies. These findings have implications for enhancing patient care through increased utilization of evidence-based heat therapy interventions


A Sex Comparison Of Fall And Fracture Occurrence In The Elderly Diabetic Population: A Quantitative Study, Fahamina Ahmed, Kaylin Miller, Meva Beganovic, Ali Siddiqui, Candice Smith Mar 2025

A Sex Comparison Of Fall And Fracture Occurrence In The Elderly Diabetic Population: A Quantitative Study, Fahamina Ahmed, Kaylin Miller, Meva Beganovic, Ali Siddiqui, Candice Smith

School of Medicine Faculty Publications

AIMS: To assess differences in falls and fractures in men and women with type 2 diabetes mellitus (T2DM) within a diverse population in Southeast Louisiana. METHODS: A list of 1200 patients was generated through an electronic health record system using keywords: diabetic diagnosis, falls, and fractures to conduct this retrospective cohort study. This chart review included adults with T2DM who experienced at least one fall and/or fracture between January 2018 and May 2023 at East Jefferson General Hospital located in Metairie, Louisiana. Only falls and fractures that resulted in a hospital visit were included. Results were compared between males and …


Overcoming Vaccine Hesitancy: Evidence From Italy During The Covid-19 Pandemic, Alessandro Del Ponte, Audrey De Dominicis, Paolo Canofari Mar 2025

Overcoming Vaccine Hesitancy: Evidence From Italy During The Covid-19 Pandemic, Alessandro Del Ponte, Audrey De Dominicis, Paolo Canofari

Political Science Faculty Articles and Research

Objectives

Here we investigate whether releasing COVID-19 vaccines at open-day events boosted Italy's vaccination campaign in 2021. This strategy exploits insights from psychology.

Study design

We built an original dataset covering 200 days of vaccination data in Italy, including “open day” events. Open-day events (in short: open days) are instances where COVID-19 vaccines were released only for a specific day at a specified location (usually, a large pavilion or a public building). Importantly, releasing vaccines through open days instead of the usual appointment channel leaves the supply of vaccines unaltered. Our dependent variables are the number of total and first …


Structure-Function Relationship Of Ash1l And Histone H3k36 And H3k4 Methylation, Kendra R Vann, Rajal Sharma, Chih-Chao Hsu, Maeva Devoucoux, Adam H Tencer, Lei Zeng, Kevin Lin, Li Zhu, Qin Li, Catherine Lachance, Ruben Rosas Ospina, Qiong Tong, Ka Lung Cheung, Shuai Yang, Soumi Biswas, Hongwen Xuan, Jovylyn Gatchalian, Lorena Alamillo, Jianlong Wang, Suk Min Jang, Brianna J Klein, Yue Lu, Patricia Ernst, Brian D Strahl, Scott B Rothbart, Martin J Walsh, Michael L Cleary, Jacques Côté, Xiaobing Shi, Ming-Ming Zhou, Tatiana G Kutateladze Mar 2025

Structure-Function Relationship Of Ash1l And Histone H3k36 And H3k4 Methylation, Kendra R Vann, Rajal Sharma, Chih-Chao Hsu, Maeva Devoucoux, Adam H Tencer, Lei Zeng, Kevin Lin, Li Zhu, Qin Li, Catherine Lachance, Ruben Rosas Ospina, Qiong Tong, Ka Lung Cheung, Shuai Yang, Soumi Biswas, Hongwen Xuan, Jovylyn Gatchalian, Lorena Alamillo, Jianlong Wang, Suk Min Jang, Brianna J Klein, Yue Lu, Patricia Ernst, Brian D Strahl, Scott B Rothbart, Martin J Walsh, Michael L Cleary, Jacques Côté, Xiaobing Shi, Ming-Ming Zhou, Tatiana G Kutateladze

Faculty, Staff and Student Publications

The histone H3K36-specific methyltransferase ASH1L plays a critical role in development and is frequently dysregulated in human diseases, particularly cancer. Here, we report on the biological functions of the C-terminal region of ASH1L encompassing a bromodomain (ASH1LBD), a plant homeodomain (ASH1LPHD) finger, and a bromo-adjacent homology (ASH1LBAH) domain, structurally characterize these domains, describe their mechanisms of action, and explore functional crosstalk between them. We find that ASH1LPHD recognizes H3K4me2/3, whereas the neighboring ASH1LBD and ASH1LBAH have DNA binding activities. The DNA binding function of ASH1LBAH is a driving force for the association of ASH1L with the linker DNA in the …


Identification Of Genes Associated With Testicular Germ Cell Tumor Susceptibility Through A Transcriptome-Wide Association Study, Emilio Ugalde-Morales, Rona Wilf, John Pluta, Alexander Ploner, Mengyao Fan, Mohammad Damra, Katja K Aben, Lynn Anson-Cartwright, Chu Chen, Victoria K Cortessis, Siamak Daneshmand, Alberto Ferlin, Marija Gamulin, Jourik A Gietema, Anna Gonzalez-Niera, Tom Grotmol, Robert J Hamilton, Mark Harland, Trine B Haugen, Russ Hauser, Michelle A T Hildebrandt, Robert Karlsson, Lambertus A Kiemeney, Jung Kim, Davor Lessel, Ragnhild A Lothe, Chey Loveday, Stephen J Chanock, Katherine A Mcglynn, Coby Meijer, Kevin T Nead, Jeremie Nsengimana, Maja Popovic, Thorunn Rafnar, Lorenzo Richiardi, Maria S Rocca, Stephen M Schwartz, Rolf I Skotheim, Kari Stefansson, Douglas R Stewart, Clare Turnbull, David J Vaughn, Sofia B Winge, Tongzhang Zheng, Alvaro N Monteiro, Kristian Almstrup, Peter A Kanetsky, Katherine L Nathanson, Fredrik Wiklund, Testicular Cancer Consortium Mar 2025

Identification Of Genes Associated With Testicular Germ Cell Tumor Susceptibility Through A Transcriptome-Wide Association Study, Emilio Ugalde-Morales, Rona Wilf, John Pluta, Alexander Ploner, Mengyao Fan, Mohammad Damra, Katja K Aben, Lynn Anson-Cartwright, Chu Chen, Victoria K Cortessis, Siamak Daneshmand, Alberto Ferlin, Marija Gamulin, Jourik A Gietema, Anna Gonzalez-Niera, Tom Grotmol, Robert J Hamilton, Mark Harland, Trine B Haugen, Russ Hauser, Michelle A T Hildebrandt, Robert Karlsson, Lambertus A Kiemeney, Jung Kim, Davor Lessel, Ragnhild A Lothe, Chey Loveday, Stephen J Chanock, Katherine A Mcglynn, Coby Meijer, Kevin T Nead, Jeremie Nsengimana, Maja Popovic, Thorunn Rafnar, Lorenzo Richiardi, Maria S Rocca, Stephen M Schwartz, Rolf I Skotheim, Kari Stefansson, Douglas R Stewart, Clare Turnbull, David J Vaughn, Sofia B Winge, Tongzhang Zheng, Alvaro N Monteiro, Kristian Almstrup, Peter A Kanetsky, Katherine L Nathanson, Fredrik Wiklund, Testicular Cancer Consortium

Faculty, Staff and Student Publications

Transcriptome-wide association studies (TWASs) have the potential to identify susceptibility genes associated with testicular germ cell tumors (TGCTs). We conducted a comprehensive TGCT TWAS by integrating genome-wide association study (GWAS) summary data with predicted expression models from normal testis, TGCT tissues, and a cross-tissue panel that encompasses shared regulatory features across 22 normal tissues, including the testis. Gene associations were evaluated while accounting for variant-level effects from GWASs, followed by fine-mapping analyses in regions exhibiting multiple TWAS signals, and finally supplemented by colocalization analysis. Expression and protein patterns of identified TWAS genes were further examined in relevant tissues. Our analysis …


Pspc1 Exerts An Oncogenic Role In Aml By Regulating A Leukemic Transcription Program In Cooperation With Pu1, Juyeong Hong, Pinpin Sui, Ying Li, Kerryn Y Xu, Ji-Hoon Lee, Juan Wang, Shi Chen, Peng Zhang, Noah Wingate, Asra Noor, Yaxia Yuan, Robert Hromas, Hongwei Zhou, Karina Hamamoto, Rui Su, C Cameron Yin, Fengxi Ye, Andrés E Quesada, Jianjun Chen, Suming Huang, Daohong Zhou, M James You, Feng-Chun Yang, Jianlong Wang, Mingjiang Xu Mar 2025

Pspc1 Exerts An Oncogenic Role In Aml By Regulating A Leukemic Transcription Program In Cooperation With Pu1, Juyeong Hong, Pinpin Sui, Ying Li, Kerryn Y Xu, Ji-Hoon Lee, Juan Wang, Shi Chen, Peng Zhang, Noah Wingate, Asra Noor, Yaxia Yuan, Robert Hromas, Hongwei Zhou, Karina Hamamoto, Rui Su, C Cameron Yin, Fengxi Ye, Andrés E Quesada, Jianjun Chen, Suming Huang, Daohong Zhou, M James You, Feng-Chun Yang, Jianlong Wang, Mingjiang Xu

Faculty, Staff and Student Publications

Acute myeloid leukemia (AML) is an aggressive hematopoietic malignancy characterized by the blockage of myeloid cell differentiation and uncontrolled proliferation of immature myeloid cells. Here, we show that paraspeckle component 1 (PSPC1) is aberrantly overexpressed and associated with poor survival in AML patients. Using human AML cells and mouse models, we demonstrate that PSPC1 is not required for normal hematopoiesis, but it is critical and essential for AML cells to maintain their leukemic characteristics. PSPC1 loss induces robust differentiation, suppresses proliferation, and abolishes leukemogenesis in diverse AML cells. Mechanistically, PSPC1 exerts a pro-leukemia effect by regulating a unique leukemic transcription …


Neoadjuvant Immune Checkpoint Inhibitors For Hepatocellular Carcinoma, Vinita Akula, Lily Chen, Yusuf Acikgoz, Katherine Klein, Betul Gok Yavuz, Lokman Cevik, Tarik Demir, Ashish Manne, Ilyas Sahin, Ahmed Kaseb, Elshad Hasanov Mar 2025

Neoadjuvant Immune Checkpoint Inhibitors For Hepatocellular Carcinoma, Vinita Akula, Lily Chen, Yusuf Acikgoz, Katherine Klein, Betul Gok Yavuz, Lokman Cevik, Tarik Demir, Ashish Manne, Ilyas Sahin, Ahmed Kaseb, Elshad Hasanov

Faculty, Staff and Student Publications

Hepatocellular carcinoma (HCC) is the most common type of liver cancer. HCC treatment is challenging; surgical resection is the primary curative treatment for early-stage disease, but recurrence rates are high. Immune checkpoint inhibitors (ICIs) are a promising neoadjuvant treatment that can reduce recurrence rates and mortality after surgery and achieve complete/partial responses. Clinical trials provide strong evidence for the efficacy and safety of ICI monotherapy for neoadjuvant HCC treatment.


Orthopedic Frailty Risk Stratification (Ofrs): A Systematic Review Of The Frailty Indices Predicting Adverse Outcomes In Orthopedics., Nithin K Gupta, Forrest Dunivin, Hikmat R Chmait, Chase Smitterberg, Azhaan Buttar, Moiz Fazal-Ur-Rehman, Taylor Manes, Morgan Turnow, Tyler K Williamson, Benjamin C Taylor, Jack W Weick, Christian Bowers Mar 2025

Orthopedic Frailty Risk Stratification (Ofrs): A Systematic Review Of The Frailty Indices Predicting Adverse Outcomes In Orthopedics., Nithin K Gupta, Forrest Dunivin, Hikmat R Chmait, Chase Smitterberg, Azhaan Buttar, Moiz Fazal-Ur-Rehman, Taylor Manes, Morgan Turnow, Tyler K Williamson, Benjamin C Taylor, Jack W Weick, Christian Bowers

Surgery Articles

BACKGROUND: With a growing number of elderly patients requiring elective and non-elective procedures, frailty-based preoperative risk stratification is an emerging tool in orthopedic surgery to minimize adverse postoperative outcomes. This paper sought to understand the current literature regarding preoperative Orthopedic Frailty Risk Stratification (OFRS) and describe the disparate frailty indices and their capabilities for discrimination in predicting adverse postoperative outcomes.

METHODS: A literature search was conducted in Pubmed, Cochrane, and Scopus for articles published during or prior to February 2024 assessing frailty following surgery for orthopedic pathologies. Qualitative variables including study characteristics and application of frailty were collected and synthesized. …


Neurocellular Stress Response To Mojave Type A Rattlesnake Venom: Study Of Molecular Mechanisms Using Human Ipsc-Derived Neural Stem Cell Model, Satish Kumar, Miriam Aceves, Jose C. Granados, Lorena Guerra, Felicia Juarez, Earl Novilla, Ana C. Leandro, Marcelo Leandro, Juan M. Peralta, Sarah Williams-Blangero, Elda E. Sánchez, Jacob Galan, John Blangero, Joanne E. Curran Mar 2025

Neurocellular Stress Response To Mojave Type A Rattlesnake Venom: Study Of Molecular Mechanisms Using Human Ipsc-Derived Neural Stem Cell Model, Satish Kumar, Miriam Aceves, Jose C. Granados, Lorena Guerra, Felicia Juarez, Earl Novilla, Ana C. Leandro, Marcelo Leandro, Juan M. Peralta, Sarah Williams-Blangero, Elda E. Sánchez, Jacob Galan, John Blangero, Joanne E. Curran

School of Medicine Publications

The Mojave rattlesnake venom shows significant geographical variability. The venom of Type A animals primarily contains β-neurotoxin referred to as Mojave Toxin (MTX), which makes bites from this snake particularly feared. We performed a genome-wide transcriptomic analysis of the neurocellular response to Mojave Type A rattlesnake venom using induced pluripotent stem cell-derived neural stem cells to unveil the molecular mechanisms underlying the damage caused by this snake’s envenomation. Our results suggest that snake venom metalloproteases, although having a limited repertoire in Type A venom, facilitate venom spread by digesting the tissue’s extracellular matrix. The MTX, which is composed of heterodimers …


Emerging Domains For Measuring Health Care Delivery With Electronic Health Record Metadata, Daniel Tawfik, Sunny S Lou, Et Al. Mar 2025

Emerging Domains For Measuring Health Care Delivery With Electronic Health Record Metadata, Daniel Tawfik, Sunny S Lou, Et Al.

2020-Current year OA Pubs

This article aims to introduce emerging measurement domains made feasible through the electronic health record (EHR) use metadata, to inform the changing landscape of health care delivery. We reviewed emerging domains in which EHR metadata may be used to measure health care delivery, outlining a framework for evaluating measures based on desirability, feasibility, and viability. We argue that EHR use metadata may be leveraged to develop and operationalize novel measures in the domains of team structure and dynamics, workflows, and cognitive environment to provide a clearer understanding of modern health care delivery. Examples of measures feasible using metadata include quantification …


Oncology Provider And Patient Perspectives On A Cardiovascular Health Assessment Tool Used During Posttreatment Survivorship Care In Community Oncology (Results From Wf-1804cd): Mixed Methods Observational Study, Chandylen L Nightingale, Maura Kepper, Randi E Foraker, Et Al. Mar 2025

Oncology Provider And Patient Perspectives On A Cardiovascular Health Assessment Tool Used During Posttreatment Survivorship Care In Community Oncology (Results From Wf-1804cd): Mixed Methods Observational Study, Chandylen L Nightingale, Maura Kepper, Randi E Foraker, Et Al.

2020-Current year OA Pubs

BACKGROUND: Most survivors of cancer have multiple cardiovascular risk factors, increasing their risk of poor cardiovascular and cancer outcomes. The Automated Heart-Health Assessment (AH-HA) tool is a novel electronic health record clinical decision support tool based on the American Heart Association's Life's Simple 7 cardiovascular health metrics to promote cardiovascular health assessment and discussion in outpatient oncology. Before proceeding to future implementation trials, it is critical to establish the acceptability of the tool among providers and survivors.

OBJECTIVE: This study aims to assess provider and survivor acceptability of the AH-HA tool and provider training at practices randomized to the AH-HA …


Targets To Increase Hiv Pre-Exposure Prophylaxis (Prep) Uptake Among Communities In Northeast Georgia, Kaley E. Parchinski, Molly Hirsh, Andrew Cheng, Nia Kalifa, Manvi Manyam Mar 2025

Targets To Increase Hiv Pre-Exposure Prophylaxis (Prep) Uptake Among Communities In Northeast Georgia, Kaley E. Parchinski, Molly Hirsh, Andrew Cheng, Nia Kalifa, Manvi Manyam

Journal of the Georgia Public Health Association

Background: This study seeks to identify targets to increase HIV pre-exposure prophylaxis (PrEP) uptake in Athens-Clarke County, GA, a non-urban area with high HIV burden and poor PrEP utilization.

Methods: A cross sectional survey of adults attending HIV outreach screenings in Athens, GA between November 2022 and March 2023 describes participant demographics and validated scales measuring PrEP knowledge, attitudes, stigma, descriptive norms, and intentions.

Results: Of 136 total participants, key demographic groups included Black (N=84, 61.8%), Latinx (N=10, 8.1%), LGBTQ+ (N=25, 18.4%), and persons who use injection drugs (N=19, 15%); overall, less than half of the PrEP knowledge items were …


Lasalocid A Selectively Induces The Degradation Of Myd88 In Lymphomas Harboring The Myd88 L265p Mutation, Wei Li, Ruirui Wang, Junhao Wang, Dafei Chai, Xiaohui Xie, Ken H Young, Ya Cao, Yong Li, Xinfang Yu Mar 2025

Lasalocid A Selectively Induces The Degradation Of Myd88 In Lymphomas Harboring The Myd88 L265p Mutation, Wei Li, Ruirui Wang, Junhao Wang, Dafei Chai, Xiaohui Xie, Ken H Young, Ya Cao, Yong Li, Xinfang Yu

Faculty, Staff and Students Publications

Myeloid differentiation primary response protein 88 (MYD88) is a key adaptor molecule in the signaling pathways of toll-like receptor and interleukin-1 receptor. A somatic mutation resulting in a leucine-to-proline change at position 265 of the MYD88 protein (MYD88 L265P) is one of the most prevalent oncogenic mutations found in patients with hematological malignancies. In this study, we used high-throughput screening to identify lasalocid A as a potent small molecule that selectively inhibited the viability of lymphoma cells expressing MYD88 L265P and the associated activation of NF-κB. Further investigations using CRISPR-CRISPR-associated protein 9 genetic screening, proteomics, and biochemical assays revealed that …


2024 Lifetime Achievement Award: Biology Unbalanced: Genes, Gene Dosage, And Disease Susceptibility, James R Lupski Mar 2025

2024 Lifetime Achievement Award: Biology Unbalanced: Genes, Gene Dosage, And Disease Susceptibility, James R Lupski

Faculty, Staff and Students Publications

This article is based on the address given by the author at the 2024 meeting of The American Society of Human Genetics (ASHG) in Denver, CO. A video of the original address can be found at the ASHG website.


Sequence Variants In Hectd1 Result In A Variable Neurodevelopmental Disorder, Gazelle Zerafati-Jahromi, Elias Oxman, Hieu D Hoang, Wu-Lin Charng, Tanvitha Kotla, Weimin Yuan, Keito Ishibashi, Sonia Sebaoui, Kathryn Luedtke, Bryce Winrow, Rebecca D Ganetzky, Anna Ruiz, Carmen Manso-Basúz, Nino Spataro, Peter Kannu, Taryn Athey, Christina Peroutka, Caitlin Barnes, Richard Sidlow, George Anadiotis, Kari Magnussen, Irene Valenzuela, Alejandro Moles-Fernandez, Seth Berger, Christina L Grant, Eric Vilain, Gudny A Arnadottir, Patrick Sulem, Telma S Sulem, Kari Stefansson, Shavonne Massey, Natalie Ginn, Annapurna Poduri, Alissa M D'Gama, Rozalia Valentine, Sara K Trowbridge, Chaya N Murali, Rachel Franciskovich, Yen Tran, Bryn D Webb, Kim M Keppler-Noreuil, April L Hall, Bobbi Mcgivern, Kristin G Monaghan, Maria J Guillen Sacoto, Dustin Baldridge, Gary A Silverman, Sonika Dahiya, Tychele N Turner, Tim Schedl, Joshua G Corbin, Stephen C Pak, Irene E Zohn, Christina A Gurnett Mar 2025

Sequence Variants In Hectd1 Result In A Variable Neurodevelopmental Disorder, Gazelle Zerafati-Jahromi, Elias Oxman, Hieu D Hoang, Wu-Lin Charng, Tanvitha Kotla, Weimin Yuan, Keito Ishibashi, Sonia Sebaoui, Kathryn Luedtke, Bryce Winrow, Rebecca D Ganetzky, Anna Ruiz, Carmen Manso-Basúz, Nino Spataro, Peter Kannu, Taryn Athey, Christina Peroutka, Caitlin Barnes, Richard Sidlow, George Anadiotis, Kari Magnussen, Irene Valenzuela, Alejandro Moles-Fernandez, Seth Berger, Christina L Grant, Eric Vilain, Gudny A Arnadottir, Patrick Sulem, Telma S Sulem, Kari Stefansson, Shavonne Massey, Natalie Ginn, Annapurna Poduri, Alissa M D'Gama, Rozalia Valentine, Sara K Trowbridge, Chaya N Murali, Rachel Franciskovich, Yen Tran, Bryn D Webb, Kim M Keppler-Noreuil, April L Hall, Bobbi Mcgivern, Kristin G Monaghan, Maria J Guillen Sacoto, Dustin Baldridge, Gary A Silverman, Sonika Dahiya, Tychele N Turner, Tim Schedl, Joshua G Corbin, Stephen C Pak, Irene E Zohn, Christina A Gurnett

Faculty, Staff and Students Publications

Dysregulation of genes encoding the homologous to E6AP C-terminus (HECT) E3 ubiquitin ligases has been linked to cancer and structural birth defects. One member of this family, the HECT-domain-containing protein 1 (HECTD1), mediates developmental pathways, including cell signaling, gene expression, and embryogenesis. Through GeneMatcher, we identified 14 unrelated individuals with 15 different variants in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant) with neurodevelopmental disorders (NDDs), including autism, attention-deficit/hyperactivity disorder, and epilepsy. Of these 15 HECTD1 variants, 10 occurred de novo, 3 had unknown inheritance, and 2 were compound heterozygous. While all individuals in this cohort displayed …


Impact Of Primary Care Team Configuration On Access And Quality Of Care, Sylvia J Hysong, Kelley Arredondo, Houston F Lester, Richard Sorelle, Trang Pham, Frederick L Oswald, Lechauncy Woodard, Laura A Petersen, Joshua Hamer, Ashley M Hughes Mar 2025

Impact Of Primary Care Team Configuration On Access And Quality Of Care, Sylvia J Hysong, Kelley Arredondo, Houston F Lester, Richard Sorelle, Trang Pham, Frederick L Oswald, Lechauncy Woodard, Laura A Petersen, Joshua Hamer, Ashley M Hughes

Faculty, Staff and Students Publications

Background: Team-based primary care has become the norm within many large healthcare systems; however, limited guidance exists on how to optimally staff primary care teams in relationship to healthcare.

Objective: This paper examines the associations between variations in team staffing configurations on primary care access and clinical quality.

Design: Observational study linking national Veterans Health Administration (VHA) data from February 2020 on primary care team staffing configurations to data on access to and quality of care the teams delivered.

Participants: We examined data from 22,390 primary care personnel assigned to 7050 teams from 1050 VA Medical Centers and Community-Based Outpatient …


Genome-Wide Prediction Of Dominant And Recessive Neurodevelopmental Disorder-Associated Genes, Ryan S Dhindsa, Blake A Weido, Justin S Dhindsa, Arya J Shetty, Chloe F Sands, Slavé Petrovski, Dimitrios Vitsios, Anthony W Zoghbi Mar 2025

Genome-Wide Prediction Of Dominant And Recessive Neurodevelopmental Disorder-Associated Genes, Ryan S Dhindsa, Blake A Weido, Justin S Dhindsa, Arya J Shetty, Chloe F Sands, Slavé Petrovski, Dimitrios Vitsios, Anthony W Zoghbi

Duncan NRI Faculty and Staff Publications

Despite great progress, thousands of neurodevelopmental disorder (NDD) risk genes remain to be discovered. We present a computational approach that accelerates NDD risk gene identification using machine learning. First, we demonstrate that models trained solely on single-cell RNA sequencing data can robustly predict genes implicated in autism spectrum disorder (ASD), developmental and epileptic encephalopathy (DEE), and developmental delay (DD). Notably, we find differences in gene expression patterns of genes with monoallelic and bi-allelic inheritance patterns in the developing human cortex. We then integrate expression data with 300 orthogonal features, including intolerance metrics, protein-protein interaction data, and others, in a semi-supervised …


Drbioright 20: An Llm-Powered Bioinformatics Chatbot For Large-Scale Cancer Functional Proteomics Analysis, Wei Liu, Jun Li, Yitao Tang, Yining Zhao, Chaozhong Liu, Meiyi Song, Zhenlin Ju, Shwetha V Kumar, Yiling Lu, Rehan Akbani, Gordon B Mills, Han Liang Mar 2025

Drbioright 20: An Llm-Powered Bioinformatics Chatbot For Large-Scale Cancer Functional Proteomics Analysis, Wei Liu, Jun Li, Yitao Tang, Yining Zhao, Chaozhong Liu, Meiyi Song, Zhenlin Ju, Shwetha V Kumar, Yiling Lu, Rehan Akbani, Gordon B Mills, Han Liang

Faculty, Staff and Student Publications

Functional proteomics provides critical insights into cancer mechanisms, facilitating the discovery of novel biomarkers and therapeutic targets. We have developed a comprehensive cancer functional proteomics resource using reverse phase protein arrays, incorporating data from nearly 8000 patient samples from The Cancer Genome Atlas and approximately 900 samples from the Cancer Cell Line Encyclopedia. Our dataset includes a curated panel of nearly 500 high-quality antibodies, covering all major cancer hallmark pathways. To enhance the accessibility and analytic power of this resource, we introduce DrBioRight 2.0 ( https://drbioright.org ), an intuitive bioinformatic platform powered by state-of-the-art large language models. DrBioRight enables researchers …


Biological Infections Associated With Wearing Cosmetic Contact Lenses: Risks, Pathogens, And Preventative Measures: Mini Review, Lina M. Shaker, Wan Nor Roslam Wan Isahak Mar 2025

Biological Infections Associated With Wearing Cosmetic Contact Lenses: Risks, Pathogens, And Preventative Measures: Mini Review, Lina M. Shaker, Wan Nor Roslam Wan Isahak

AUIQ Complementary Biological System

Cosmetic contact lenses are increasingly favored worldwide for their ability to enhance or alter aesthetic appearance. However, their use carries a higher risk of ocular infections, particularly when proper hygiene practices are neglected. This narrative review explores the biological and clinical aspects of infections associated with cosmetic lens usage, with a focus on pathogens such as Pseudomonas aeruginosa, Staphylococcus aureus (S. aureus), and Acanthamoeba. Key factors influencing infection susceptibility include microbial adhesion, biofilm formation, reduced oxygen permeability, and the effects of cosmetic pigments. The review further evaluates the role of lens material properties, including advancements in antimicrobial materials, …


Methylene Blue Dye Removal From Aqueous Solution Using Activated Carbon Prepared From Corn Cob Stem: Kinetics, Isotherms And Mechanism Studies, Gopi Narasimha Murthy, Uttam Kumar Sahu Mar 2025

Methylene Blue Dye Removal From Aqueous Solution Using Activated Carbon Prepared From Corn Cob Stem: Kinetics, Isotherms And Mechanism Studies, Gopi Narasimha Murthy, Uttam Kumar Sahu

AUIQ Complementary Biological System

In this study, a waste-to-wealth work has been proposed where activated carbon was synthesized from waste corn cob stems and used for methylene blue (MB) dye removal. Corn cob stems activated carbon (CCSAC) had been prepared in microwave technique using H3PO4 as an activating agent where the impregnation ratio of corn cob stems to H3PO4 was 1:4. Then CCSAC characterized by FTIR, BET, XRD, SEM, EDS, and Raman spectroscopy. The CCSAC showed the mesoporous with a good surface area of 54.61 m2/g. Around 150 mg adsorbent dose, 120 min contact time, pH …


Assessing The Biological Impacts And Health Risks Of Uv Radiation In The Context Of Sustainable Development Goals: Review, Ruaa H. Abbas, Lina M. Shaker Mar 2025

Assessing The Biological Impacts And Health Risks Of Uv Radiation In The Context Of Sustainable Development Goals: Review, Ruaa H. Abbas, Lina M. Shaker

AUIQ Complementary Biological System

Ultraviolet (UV) radiation, while essential for certain biological processes, presents significant risks to human health and ecosystems. Increased UV exposure, driven by ozone depletion and climate change, heightens threats such as DNA damage, skin cancer, immune suppression, and eye disorders, directly aligning with Sustainable Development Goal (SDG) 3: Good Health and Well-being. Additionally, UV radiation disrupts marine and terrestrial ecosystems, impacting biodiversity and productivity, relevant to SDGs 14 and 15. This review evaluates the health and environmental impacts of UV radiation and highlights recent advancements in UV monitoring technology. Key findings reveal substantial evidence linking UV exposure to accelerated skin …


Development Of High Affinity Aptamers To Cd10 Recombinant Human Neprilysin Protein For Aptamer-Crispr Biosensor, Kory Punch, Christopher Hu, Yolanda Fortenberry, Khamequz Zaman Mar 2025

Development Of High Affinity Aptamers To Cd10 Recombinant Human Neprilysin Protein For Aptamer-Crispr Biosensor, Kory Punch, Christopher Hu, Yolanda Fortenberry, Khamequz Zaman

Research Symposium

Many inflammatory joint diseases are associated with the expression of CD10 protein, which plays a large part in the pro-inflammatory and pain transmission signaling of the infrapatellar fat pad. This pro-inflammatory mechanism is a prime indicator in the degradation of the articular cartilage of various joints found in human musculoskeletal tissue. CD10 expression in Mesenchymal Stem Cell (MSC) is directly related to its immunomodulatory and chondroprotective effects. Thus, this project focuses on developing an aptamer-CRISPR based biosensor that will detect CD10 expression without perturbation of the sample. Aptamers are small, single-stranded nucleic acid molecules that can fold into distinctive structures, …


Neuromodulation Techniques For Drug-Resistant Epilepsy: Effects On Seizures And Quality Of Life, Kevin Garcia Valdez, Anesu Karen Murambadoro, Megan W. Szobody, Blake C. Martin, Kory D. Punch, Tori Sayers, Tirath Patel, Nina Mourao, Sriya Gullapalli, Nikhilesh Anand, Bharathi S. Gadad Mar 2025

Neuromodulation Techniques For Drug-Resistant Epilepsy: Effects On Seizures And Quality Of Life, Kevin Garcia Valdez, Anesu Karen Murambadoro, Megan W. Szobody, Blake C. Martin, Kory D. Punch, Tori Sayers, Tirath Patel, Nina Mourao, Sriya Gullapalli, Nikhilesh Anand, Bharathi S. Gadad

Research Symposium

Introduction: Although there are over twenty antiseizure drugs currently available, around one third of patients with epilepsy do not benefit from these medications. Patients with drug-resistant epilepsy (DRE) experience higher rates of hospitalization, notable decline in cognitive and physical abilities, diminished quality of life, and sudden unexpected death. Neuromodulation techniques such as Vagus Nerve Stimulation (VNS), Responsive Neurostimulation (RNS), and Deep Brain Stimulation (DBS) are quickly emerging as alternative and adjunct therapies for epilepsy, offering patients and physicians a new avenue of treatment. Despite their promise, a notable gap exists in comprehensive, comparative data assessing the efficacy and suitability of …


A Look In The Fast Lane, Joseph Mceachon Mar 2025

A Look In The Fast Lane, Joseph Mceachon

Osmosis Magazine

An Interview with Dr. Jeffrey Leary, M.D., Emergency Medicine, Richmond Emergency Physicians Inc.


Challenges Associated With Organ Transplants, George Qiao Mar 2025

Challenges Associated With Organ Transplants, George Qiao

Osmosis Magazine

In 1954, the first successful kidney transplant was performed by Dr. Joseph E. Murray. Since then, organ transplantation has served as a life-saving operation, as it replaces a failed organ with a healthy and functioning organ. Recent decades have experienced great success for organ transplants due to advancement in the surgical industry as well as the availability of immunosuppressive drugs that fight against organ rejection.


Conservation In A Developing Country, Melanie Lippert Mar 2025

Conservation In A Developing Country, Melanie Lippert

Osmosis Magazine

Amour Mohammad started farming in Pemba Island, Tanzania in 1994 and soon became an icon for sustainable land management on the island. Climate change has caused droughts, salt water intrusion into farms, and nutrient runoff from the land in Pemba. Despite this, Mohammad viewed climate change not as an obstacle, but as an opportunity to be innovative.


Phage Therapy: A Fresh Look At Last Century's Candidate For Fighting Bacteria, Savannah Del Cid Mar 2025

Phage Therapy: A Fresh Look At Last Century's Candidate For Fighting Bacteria, Savannah Del Cid

Osmosis Magazine

Humanity has fought infectious bacteria for ages, but it wasn't until recently that humans began to distil chemicals from nature to fight bacteria, which we know as antibiotics. At first, bacteria were easily treated with antibiotics, such as the well-known penicillin. However, the improper and overuse of antibiotics over the decades has created the perfect environment for mutated bacteria to thrive despite antibiotic treatments. This has become a major concern for doctors and patients because the need to utilize methods beyond the pharmaceutical has not become widely apparent until now.


A Biologically Modified World, Maxim Ermoshkin Mar 2025

A Biologically Modified World, Maxim Ermoshkin

Osmosis Magazine

The field of synthetic biology has received more attention in the last decade to become a leading emerging technology. The field merges engineering concepts with the study and manipulation of biology. Synthetic biology fosters new solutions to biological problems by reconstructing biological phenomena as well as creating entirely new organisms. Venture capitalists and governments have dramatically increased investment and funding in this field because of its potential in reimagining how medicine, energy, and food are developed.


Origins And Ethics Of Biohacking, Lindsey Paul Mar 2025

Origins And Ethics Of Biohacking, Lindsey Paul

Osmosis Magazine

Since its first mention in a 1988 Washington Post article, the biohacking movement has taken on many definitions, with the overarching goal of disseminating information and techniques to allow people outside of the traditional scientific community to modify biological systems. Biohackers, then, are the members of this movement, viewing themselves as boundary-pushers and explorers.


Youth Football: Risk Of Brain Injury, Justin Airas Mar 2025

Youth Football: Risk Of Brain Injury, Justin Airas

Osmosis Magazine

Recent studies have increased concerns of the impact of youth tackle football on later neurological health.