Medicine and Health Sciences Commons^™

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 …

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 …

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.

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 …

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 …

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

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

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

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

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

Osmosis Magazine

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

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

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

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

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

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

Osmosis Magazine

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

Vaping: Is It Better Or Worse For You Thank Smoking?, Madeline Ustanik

Osmosis Magazine

Electronic cigarettes, otherwise referred to as "vapes", "juuls", or "e-cigs", have rapidly risen in popularity since their initial introduction in 2003. The explosion of vape shops, the sight of vape pens in public spaces, and the prevalence of vaping within popular culture is now commonplace. Also available in a variety of flavorings, such as strawberry, mango, and mint, e-cig pods have risen in popularity, particularly among high schoolers and young adults.

Disorder Of Sex Development (Dsd), Dana Oriana Morcillo

Osmosis Magazine

A parent's greatest joy is the moment their child is born. However, this moment can become confusing and even, stressful when their newborn child has different or additional genitalia than the one expected. In moments like this, an important decision lies ahead for both the parents and the physicians in treating the child with caution and more importantly, the appropriate care. Children born with disorder of sex development (DSD) introduce a new medical dilemma that extends beyond the physical, but to psychological, social and ethical concerns as well.

The Effect Of Sleep On Performance In School, Sam Bottum

Osmosis Magazine

As college students, we have all heard that sleep is key to performing well in the classroom. Just how true is this? This article will delve into several studies to get to the bottom of the age-old question.

The Genes To Success: Are You Naturally Gifted?, Adriana Grimes

Osmosis Magazine

Have you ever wondered why it seems that some people struggle in school despite working just as hard as everyone else, yet others can get away with barely studying and still have a 4.0 GPA? Well it turns out there may be some hints in your genome.

Science And The Supreme Court, Nathan Dinh

Osmosis Magazine

On the first Monday of October, the eight justices of the Supreme Court sat on the bench to hear the first oral arguments of the new term, Weyerhauser Company v. United States Fish and Wildlife Services. This case did not involve niche tax laws or contracts, nor did it involve hot button topics like immigration or abortion rights. Rather, it involved the lowly dusky gopher frog.

Letter From The Editor, Mckenzie (Mickey) Survin

Osmosis Magazine

Dear Reader,

Thanks for picking up the fifth - yes, fifth! issue of Osmosis Magazine. I am so proud of how far Osmosis has come! The articles in this issue are more relevant than ever, and ifs inspiring to see so many passionate people coming together to write about them.

We have welcomed so many new faces-shout out to my new design team - as well as some loyal returners. I would like to personally thank Sanitra Desai for sticking this out with me, especially the early days when it was a design team party of two. It's going to …

Osmosis Magazine - Fall 2018

Osmosis Magazine

Osmosis is a student read, led, and written publication from the University of Richmond, focusing on all aspects of healthcare and science.

Dual Burden: Analyzing The Co-Occurrence Of Spinal Cord And Traumatic Brain Injuries In Texas, Blake C. Martin, Kevin Garcia Valdez, Daniel Salinas, Paul Bonilla, Victoria Elizondo, Anesu Karen Murambadoro, Kelsey Baker

Research Symposium

Background: An estimated 60% of people that suffer a spinal cord injury (SCI) have a co-occurring traumatic brain injury (TBI), with cervical level injuries having the greatest comorbidity. Following an accident, diagnosis of TBI may be missed as emergency responders prioritize the spinal injury. Early recognition of brain involvement in a patient with a traumatic SCI is crucial, as delayed treatment may cause irreversible neurological impairment such as deficits in concentration, memory, and learning. In this study, we analyzed the comorbidity of TBI and SCI in Texas, and the related demographics and injury characteristics. We aimed to increase awareness of …

Exploring Stressors And Coping Mechanisms Among Esperanza Community Residents Seeking Healthcare At The C.D. Doyle Clinic, Kashish Sawant, Alexander Carruth, Lucas Williams, Miriam Yampuler, Krishna Hariprasad, Pranavi Kolli

Research Symposium

Background: The C.D. Doyle Clinic (CDD) is a student-run free clinic that operates as an acute care center in the Esperanza Community (EC), a state sanctioned encampment in Southeast Austin supporting individuals experiencing homelessness. Residents of EC are provided with access to low-cost insurance, employment opportunities, and community support by The Other Ones Foundation (TOOF). However, studies have indicated that home-insecure individuals experience a heightened level of stress, due to causes such as social estrangement, systemic inadequacies in support structures, and financial instability¹. While CDD primarily addresses acute wellness needs, the clinic hopes to establish more collaboration with …

Retrospective Analyses Of Adhd And Neurodegenerative Diseases In The Rio Grande Valley, Maci D. Oestreich, Jennifer V. Escamilla, Shiza Khan, Kaitlyn D. Ybanez, Kelsey Potter-Baker

Research Symposium

Introduction: Previous literature has suggested that attention deficit hyperactivity disorder (ADHD) may be associated with later development of neurodegenerative diseases (up to 2.77 fold increase). However, it is unclear how this association may be influenced by demographic or ethnic factors. Specifically, neurodegenerative diseases (ND), such as Alzheimer’s disease, Huntington’s disease, or dementia, are exceptionally prevalent in the Rio Grande Valley (RGV). Investigating whether ADHD is a potential risk factor for NDs in the RGV may provide valuable insights for early diagnosis, intervention, and prevention. The purpose of this study is to evaluate the correlation between ADHD and ND in underserved, …

Is Birth Control Harming The Environment?, Missy Schrott

Osmosis Magazine

In recent years the "go green" mentality that more and more people are adopting has led to concern about the environmental impacts of contraceptives, especially birth control pills, on aquatic life and drinking water supplies.

Food Deserts In Richmond, Jesse Conway

Osmosis Magazine

The term "food desert" is one of recent origin but describes a growing phenomenon throughout the United States. "Food desert" refers to a town or area with limited access to fresh fruit, vegetables, and other healthy whole foods.l These areas are often impoverished and thus devoid of nearby supermarkets and farmers' markets, as low profit margins lead to a wide array of challenges for incoming businesses. With limited access to these food sources, families often turn to cheaper and more processed options that are high in unhealthy fats and carbohydrates. This problem worsens for households without a car or with …

Genetic Testing As A Screening Tool For Mental Health Medication, Rachel Bringewatt

Osmosis Magazine

No abstract provided.