Medicine and Health Sciences Commons^™

Nurse-To-Nurse Change-Of-Shift Handoff Communication: The Experience Among Senior Nursing Students In A Hospital Setting—A Transcendental Phenomenological Study, Karen Bryson

Doctoral Dissertations and Projects

The purpose of this transcendental phenomenological study was to understand the lived experiences of senior nursing students with nurse-to-nurse change-of-shift handoff communication during their clinical practicum at a major healthcare system in the United States. The guiding research question was: What are the lived experiences of senior nursing students when communicating shift-to-shift handoff reports to incoming nurses during senior clinical practicum in an acute care hospital setting? Bandura's social cognitive theory and Kolb's experiential learning theory are the two theories that support the conceptual framework of this study. Ten nursing students were purposefully recruited from local two-year and four-year nursing …

Addressing Language Challenges In Bilingual Neuropsychological Assessments At The South Texas Alzheimer's Disease Research Center (Adrc), Stephanie Santiago-Mejias, Gabrielle Hromas, Ashley Laroche, David A. Gonzalez, Robin C. Hilsabeck, Katya Rascovsky, Silvia Mejia-Arango, Amy Werry-Mcfarlin, Claudia Satizabal, Hector Trevino

School of Medicine Publications

Introduction: Neuropsychological assessment of bilingual (English/Spanish) individuals presents challenges that can impact test validity. Language proficiency influences cognitive performance, yet clear guidelines for determining the appropriate test language are lacking. We describe our experiences at the South Texas Alzheimer's Disease Research Center (STAC) in addressing these challenges within the context of National Alzheimer's Coordinating Center (NACC) Uniform Data Set (UDS) assessments and broader Alzheimer's Disease Research Center (ADRC) protocols. We outline steps toward a structured language assessment approach.

Methods: We implemented a process to assess language proficiency, integrating self-reported and objective measures, including the language dominance index (LDI). Case examples …

Utility And Safety Of Artificial Intelligence For Patient-Initiated Contact After Functional Rhinoplasty, W. Jack Palmer, Dana Michlin, Leonard Estephan, Jason Tasoulas, Khashayar Arianpour, Harleen K. Sethi, Daniel J. Campbell, Howard Krein, Ryan Heffelfinger

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

OBJECTIVE: To understand the content of patient calls after functional rhinoplasty and to evaluate artificial intelligence chatbots' ability to provide accurate, intelligible, and safe responses.

STUDY DESIGN: Retrospective review.

SETTING: Tertiary-care institution.

METHODS: A single-institution, retrospective review was conducted for patients who underwent functional rhinoplasty between 2017 to 2023. Postoperative calls and messages prior to first follow-up were analyzed, and 48 representative prompts were generated, including 6 "Red Flag Questions" indicating potential complications. Prompts were input into 4 chatbots (ChatGPT, Claude, Perplexity, and Gemini). Two independent, blinded experts graded responses using a Likert-style Global Quality Scale (GQS) and a binary …

Economic Factors Influencing Utilization Of World Health Organisation-Recommended Anc Visits Among Women In Jordan: An Analysis Of Jordan Population And Family Health Survey 2023, Lilian Nuwabaine, Joseph Kawuki, John Baptist Asiimwe, Benjamin Betunga, Mathius Amperiize, Angella Namulema, Imelda Namatovu, Shamim Nabidda, Patience Annet Nakalega, Quraish Sserwanja

School of Nursing & Midwifery, East Africa

Background: Antenatal care (ANC) is crucial for reducing maternal and neonatal mortality by identifying and managing complications early during pregnancy. In 2016, the World Health Organization (WHO) updated its guidelines, recommending a minimum of eight ANC visits to improve maternal health outcomes. Despite Jordan’s efforts to enhance maternal healthcare, disparities in ANC utilization persist, particularly among vulnerable populations such as refugees. This study aimed to assess the economic factors influencing utilization of the WHO-recommended eight ANC visits among women in Jordan.

Methods: The study used data from the 2023 Jordan Population and Family Health Survey (JPFHS). A two-stage sampling technique …

Time-Of-Day And Age-Related Patterns In Cerebrospinal Fluid Glucose And Protein, Joshua P Koleske, Shelei Pan, Thanda Meehan, Maren Loe, Diego M Morales, Brendan P Lucey, Erik Musiek, Jennifer M Strahle

2020-Current year OA Pubs

BACKGROUND: Known circadian variations in cerebrospinal fluid (CSF) flow and composition include fluctuations in electrolytes, hormones, and neurotransmitters. However, how commonly measured CSF constituents, such as protein and glucose, vary by time-of-day is understudied. Here, we identify and compare time-of-day differences in CSF protein and glucose from patients who underwent CSF collection during clinical care.

METHODS: Patients with CSF collected between June 2018 and May 2023 at thirteen hospitals within our institution's health system were identified. Clinical, demographic and laboratory results were recorded. CSF results were divided into 1- and 4-hour intervals based on time-of-day and patient age. Patients were …

Type I Hybrid Effectiveness-Implementation Randomised Controlled Trial To Address Intergenerational Impact Of War Trauma And Resilience Among Second-Generation Refugee Children In The Usa: Resettled Refugee Families For Healing (Rrf4h) Study Protocol, Nhial T Tutlam, Tewodros W Liyew, Theresa S Betancourt, Byron J Powell, Shenyang Guo, Mary Mckay, Fred M Ssewamala

2020-Current year OA Pubs

INTRODUCTION: Children from refugee families resettled in the USA face higher risks of serious mental health challenges compared with their native-born peers. Research shows that refugee youth in high-income countries frequently suffer from trauma-associated disorders such as post-traumatic stress disorder (PTSD), depression and anxiety. The high prevalence of trauma-associated mental health problems among these youth may be attributed to their own trauma exposure, especially if born in conflict zones, and post-resettlement challenges like poverty, acculturation difficulties, racism and discrimination. However, they may also suffer from the effects of intergenerational trauma, where parental war trauma impacts them. This study aims to …

Genetic Determinants And Genomic Consequences Of Non-Leukemogenic Somatic Point Mutations, Joshua S. Weinstock, C Charles Gu, Et Al.

2020-Current year OA Pubs

No abstract provided.

Design Of A Snp Panel For Highly Accurate Paternity Identification In Eşme Sheep, Onur Yilmaz, İbrahi̇m Cemal, Orhan Karaca, Cengi̇z Elmaci, Nezi̇h Ata

Turkish Journal of Veterinary & Animal Sciences

SNP paternity testing panels offer high-resolution capabilities for determining livestock paternity, thereby enhancing the reliability of genetic verification and ensuring pedigree record accuracy. In this study, we aimed to develop a SNP-based paternity test panel utilizing a 50K SNP chip for paternity testing and pedigree verification in the Eşme sheep breed. Additionally, the study sought to validate the paternity test panel. Based on data from 26 rams and 524 lambs of the Eşme sheep breed, the results indicated that the 50K SNP chip used demonstrated a very high genotyping rate, with the majority of its 53,738 SNPs exhibiting significant polymorphism. …

Mycoplasma Pneumoniae-Induced Mucositis Sine Rash: Case Report In An Adult Patient, Sultan Qaboos University

Sultan Qaboos University Medical Journal

No abstract provided.

Staff Education And Competency Assessment For Central Line-Associated Bloodstream Infection Reduction, Shabana Ali

Walden Dissertations and Doctoral Studies

This Doctor of Nursing Practice project was an educational initiative to provide comprehensive central line-associated bloodstream infection (CLABSI) prevention education program for staff working in an intensive care unit (ICU). CLABSIs pose a significant threat to patient safety, contributing to increased morbidity, mortality, and healthcare costs, with annual expenditures estimated at $300 million to $2.3 billion and mortality rates ranging from 10% to 30%. Despite existing protocols, the project site facility experienced persistent CLABSI rates. The purpose of the project was to provide a comprehensive educational program to ICU staff members on the unit. The practice-focused question guiding this project …

Safety, Efficacy, And Quality Of Life Outcomes Of Subcutaneous Lonigutamab (Anti-Igf-1r): Week 12 Results From A Phase 1/2 Proof Of Concept Study In Patients With Thyroid Eye Disease (Ted), Shoaib Ugradar, David A. Kostick, Jane Spadaro, Dinesh Selva, Jean-Louis Desousa, Krishna Tumuluri, Jwu Jin Khong

Conference Presentation Abstracts

No abstract provided.

Psychologist-Federal Agent Approaches To Supporting Veterans And Police With Mental Health Challenges, Ismith Bocaille

Doctoral Dissertations and Projects

This study explored how federal agents and psychologists collaborate to assist veterans and police officers receive offer mental health care. The study paid attention to the potential interplay of artificial intelligence and faith-informed models. Following IPA-based qualitative interviews with federal agents and psychologists and an extensive literature review, the study pointed out some barriers to seeking mental health services, including stigma, rigidity inside organizations, and less peer support. Intervention models that involve patients intensely have emerged as more effective ideas, which are used sparingly. The results indicate that peer support should be incorporated into departmental policies, and closer contact and …

Bacterial Identification, Antibiotic Susceptibility Testing (Ast), And Epstein-Barr Virus (Ebv) Testing To Increase Organ Transplantation Within A Western Regional Community, Vedarrius D. Williams

Doctoral Dissertations and Projects

Clinical transplantation demands have increased immensely in recent years and, along with increasing supply shortages, many barriers to successful organ donation arise from a lack of dedicated testing to rule out microbial or bloodborne infections. There are currently minimal, federal regulatory requirements for transplantation specimen testing. The purpose of this study is to explore how to increase the viability and success of transplantations in the Western regions of the United States using kidney, pancreas, and kidney/pancreas transplant data from University Medical Center Southern Nevada (UMCSN) transplant center. UMCSN transplant center and Donor Services Laboratory (DSL) in Las Vegas perform bacterial …

Protocol For Isolating Patient-Derived Ascites Cells And Extracellular Vesicles From Gastric Cancer Peritoneal Metastases, Yibo Fan, Jody V Vykoukal, Shumei Song, Melissa Pool Pizzi, Gengyi Zou, Katsuhiro Yoshimura, Jiankang Jin, Hiroyuki Katayama, George A Calin, Rebecca E Waters, Qiong Gan, Linghua Wang, Samir Hanash, Shilpa S Dhar, Jaffer A Ajani

Faculty, Staff and Student Publications

Peritoneal carcinomatosis (PC) cells and extracellular vesicles (EVs) from gastric cancer ascites are valuable for studying tumor-stroma interactions. Here, we present a protocol for isolating PC cells and EVs from patient ascites. We describe steps for PC cell culture, iodixanol-based EV purification, electron microscopy, nanoparticle tracking analysis, flow cytometry, and proteomic profiling. This protocol also includes TD-139 loading into exosomes for functional assays to evaluate their role in modulating the tumor microenvironment. For complete details on the use and execution of this protocol, please refer to Fan et al.

Equal Survival For Black Americans With Multiple Myeloma When Appropriately Matched To White Americans, David E Mery, Guido Tricot, Samer Al Hadidi, Yihao Zhan, Cody Ashby, Clyde Bailey, Eric R Siegel, Daisy V Alapat, Hongwei Xu, Sandra Mattox, Caroline Schinke, Maurizio Zangari, Sharmilan Thanendrarajan, Qing Yi, Robert Z Orlowski, Frits Van Rhee, John D Shaughnessy, Fenghuang Zhan

Faculty, Staff and Student Publications

No abstract provided.

A Pooled Sample Study Of Opioid Use Disorder Treatment Wait Time Among A Pregnant Population In New York, Stanley Nkemjika, Gulshan Begum, Bolaji Yoade, Vaibhav Vyas, Henry Onyeaka, Olubusola Olatunji, Olaniyi Olayinka, Ayana Jordan

Faculty, Staff and Student Publications

Background and Aim: Opioid use disorder (OUD) during pregnancy has become a major public health issue, with its prevalence rising significantly in recent years. The incidence of neonatal abstinence syndrome (NAS) has also surged, from 1.5 cases per 1000 hospital births in 1999 to 6.0 cases per 1000 in 2013. This study aims to identify and analyze the concerns faced by pregnant people in accessing OUD treatment on time, specifically focusing on New York.

Methods: The pooled sample of 225,275 individuals represents pregnant patients with OUD who received treatment at substance use disorder (SUD) facilities across New York State between …

A Case Study Of Ai-Enabled Software As A Medical Device Cleared By The Fda For Assessing Hemorrhage Risk Index (Appraise-Hri) After Trauma, Andrew Frock, Jeffrey T Robbins, Francisco G Vital-Lopez, Valmik Desai, Gheorghe Doros, Barry E Sands, Arunkumar Prabhakaran, Christopher Nemeth, Gregory T Rule, Jason L Sperry, Francis X Guyette, Stephen R Wisniewski, Ernest E Moore, Martin Schreiber, Bellal Joseph, Chad T Wilson, Bryan Cotton, Daniel Ostermayer, Brian G Harbrecht, Mayur B Patel, Suzanne Tamang, Sanjay Malunjkar, David A Spain, Andrew T Reisner, Jonathan D Stallings, Jaques Reifman

Faculty, Staff and Student Publications

Hemorrhage is the leading cause of preventable death on the battlefield, yet combat medics lack clinical decision support systems to help stratify hemorrhage risk in trauma casualties. We previously trained the Automated Processing of the Physiological Registry for Assessment of Injury Severity - Hemorrhage Risk Index (APPRAISE-HRI) software to associate patterns in vital signs (heart rate and blood pressure) collected from trauma patients with three HRI levels: I (low), II (average), or III (high). To independently validate APPRAISE-HRI and obtain U.S. Food and Drug Administration (FDA) clearance, we collected trauma registry and continuous vital sign data from 5895 trauma patients …

Genetic Screening Of Genome-Wide Association Studies-Derived Risk Loci For Type 2 Diabetes Mellitus: Confirmation In The North Indian Population, Zoya Shakir, Kauser U. Siddiqui, Dandu Himanshu, Wahid Ali

Sultan Qaboos University Medical Journal

Objectives: This case–control study investigated the association of three novel South Asian genome-wide association studies (GWAS)-derived type 2 diabetes mellitus (T2DM) susceptibility gene polymorphisms in the North Indian population. Methods: The study was conducted at King George’s Medical University, Lucknow, India, between January 2022 and December 2023. Three single nucleotide polymorphisms (SNPs) were genotyped: rs2028299 (C>A) near the AP3S2 gene, rs1802295 (C>T) near the VPS26A gene, and rs16861329 (C>T) near the ST6GAL1 gene. Genotyping was performed using polymerase chain reaction (PCR) followed by Sanger sequencing of PCR amplicons. The relationship between T2DM and various anthropometric …

Effect Of Water At Different Ph Levels Adjusted With Organic And Inorganic Acidifiers On The Growth Performance, Blood Biochemistry, Carcass Yield, And Meat Physicochemical Properties Of Broilers, Asad Ali Shah, Shahid Mehmood, Fazal Raziq, Muhammad Tahir Khan, Assad Ullah, Yasir Abbas, Syed Kaleem Ul Hassan, Sohail Ahmad, Smile Manzoor, Kashif Khan

Turkish Journal of Veterinary & Animal Sciences

This study evaluated the effects of varying water pH levels, adjusted with organic (formic acid) and inorganic (sodium hydrogen sulfate) acidifiers, on the growth performance, blood biochemistry, carcass yield, and meat quality of broiler chickens. The objective was to determine how these factors affect broiler health and production efficiency. In a 35-day feeding trial, 420 day-old chicks were randomly assigned to a 2 × 3 factorial design that tested two types of acidifiers (organic versus inorganic) at three pH levels (5.8, 6.8, and 7.8), with six replicates of 10 birds per treatment. Birds were provided with acidified water ad libitum …

Evaluating The Impact Of Starch Intake On Fecal Consistency Scores In Equines, Gülşah Kaya Karasu, Hidir Gümüş

Turkish Journal of Veterinary & Animal Sciences

Horses, as monogastric hindgut fermenters, primarily engage in microbial activity in the large intestine. Although starch is not inherently harmful, excessive intake can lead to digestive disturbances and health issues due to insufficient digestion in the small intestine, resulting in overflow into the large intestine. The purpose of the study was to evaluate the use of rapid fecal analysis, including fecal score, pH, and dry matter (DM) analysis, to understand the effects of high starch intake. The study was conducted in May 2023 at a private sport horse farm in İzmir, Türkiye and involved 24 sport horses aged 4 to …

Development And Validation Of A High-Performance Liquid Chromatography Method For The Simultaneous Determination Of Selected Varroacidal Active Substances In Bee Health Products, Onur Demi̇r

Turkish Journal of Veterinary & Animal Sciences

The presence of substandard and counterfeit veterinary medicinal products represents a significant concern from a One Health perspective, given the potential consequences for human and animal health, as well as the environment. In this study, an isocratic flow liquid chromatography method was developed for the simultaneous determination of thymol, coumaphos, amitraz, tau-fluvalinate, and flumethrin in bee health products used for varroosis control. The chromatographic separation was conducted at a wavelength of 276 nm, utilizing an RP18e column and an acetonitrile:water mobile phase ratio of 75:25 (v/v), with a flow rate of 0.75 mL/min. The validation of the method was conducted …

Nurse Confidence In Mental Health Communication: Examining The Effect Of An Educational Intervention In Outpatient Specialty Departments, Joy-Ruth Mathews

Doctoral Dissertations and Projects

The global prevalence of mental health illnesses has prompted a growing need for healthcare professionals to be prepared to identify and address these concerns. Many nurses in outpatient specialty departments report feeling underprepared and lacking confidence when communicating with patients about mental health concerns. This scholarly project utilized an educational intervention to improve nurse confidence in mental health communication, the application of therapeutic communication techniques, and resource identification. A quasi-experimental, one-group pretest/posttest design was implemented, with nurses from outpatient specialty departments at Duke Health’s Kernodle Clinic completing pre- and post-Likert scale surveys to assess changes in their self-reported confidence. The …

Experiences Of A Simulated Medical Malpractice Lawsuit On Nursing Students' Documentation Practices: A Transcendental Phenomenological Approach, Heide Thorne

Doctoral Dissertations and Projects

The purpose of this qualitative, transcendental phenomenological study is to understand the perspectives of first semester nursing students participating in a simulated medical malpractice lawsuit and documentation practices. The theory guiding this study is Kolb’s experiential learning theory (ELT), as it explains the relationship of learning and knowledge transfer through a simulation-based learning activity (SBL). Data collection approaches included observations, anonymous reflective journals, and individual interviews or questionnaire capturing students’ personal experiences and emerging themes. Bracketing enhanced reflexivity, reduced bias, and strengthened the study’s credibility and dependability. Results of the study support the efficacy of a specific, powerful SBL activity …

Pilot Study: Integrating The Epic Stroke Narrator Into Inpatient Code Stroke Protocols To Improve Symptom Onset Identification And Reduce Intervention Times, Stacy L. Carter

Doctoral Dissertations and Projects

In-hospital strokes are often underrecognized, leading to treatment delays and poorer outcomes compared to community-onset strokes. This scholarly project evaluated whether integrating the Epic Stroke Narrator into inpatient code stroke protocols could improve documentation of last known well time (LKWT) and reduce time to intervention. A 6-week quasi-experimental pilot study guided by the Iowa Model of Evidence-Based Practice and Rogers’ diffusion of innovations theory was conducted on a neuroscience telemetry step-down unit at a comprehensive stroke center in Richmond, Virginia. Education on the Stroke Narrator was provided to bedside nurses and was followed by implementation and evaluation of narrator use …

Empowering Psychiatric Nurse Practitioners To Address Nutritional Deficits: An Educational Quality Improvement Study, Beatrice Joan Richards

Doctoral Dissertations and Projects

Psychiatry is a complex and multifaceted discipline, and treatment approaches often vary based on provider preference and philosophy. Some focus heavily on pharmacotherapies, while others use psychotherapeutic methods, and still others take a more holistic approach involving full-body wellness. All three strategies are beneficial, and providing psychiatric care with a combination of them all can address the full spectrum of factors that influence one’s mental health. Much research, education, and clinical focus have been put on pharmacotherapy and psychotherapeutics. However, there is a marked lack of understanding regarding the holistic realm of psychiatric care, specifically the role of nutrition, amongst …

The Impact Of Childcare Services On The Professional And Personal Lives Of Nurse-Parents In Puerto Rico, Sandily Villegas

Doctoral Dissertations and Projects

The purpose of this study was to evaluate the impact of childcare services on the professional and personal lives of nurse-parents in Puerto Rico. The problem investigated was that nurses who are parents constantly face challenges regarding balancing work and childcare responsibilities. This study used qualitative research with a grounded theory framework. Neuman System Theory serves as a framework for evaluating the stressors and challenges faced by nurse-parents. The central research question was: How does the availability of childcare services affect the professional and personal lives of nurse-parents in Puerto Rico? To answer this question, data were collected through three …

Investigation Of The Usability Of The Difference In Body Structure As A Breeding Method In Unselected Sheep Flocks (I-Fattening Performance- Slaughter And Carcass Characteristics), Mehmet Naci̇ Oktay, Bora Özarslan

Turkish Journal of Veterinary & Animal Sciences

This study investigated the development of a meat-type sheep strain by using the differences in body structure in Kangal Akkaraman an indigenous sheep breed of Türkiye. The control group consisted of 15 male lambs born to ewes with dairy-type (DT) body structure and the experimental group consisted of 15 male lambs born to ewes with meat-type (MT) body structure. The sheep in the DT group were selected for their elegant, clear bony lines; long, thin neck; triangular body structure that widens from front to rear; and the leg length longer than the depth of the chest. In selecting sheep for …

Dietary Patterns For Weight And Glycemic Management In Persons With Type 1 Diabetes: A Meta-Analysis Of Clinical Trials, Daria Igudesman, Laura M Nally, Alyssa A Grimshaw, Craig G Gunderson, Elizabeth G Considine, Laura M Jacobsen, Mustafa Tosur, Peter A Gottlieb, Irl B Hirsch, Lori M Laffel, Jennifer L Sherr, Chantal Mathieu, Richard E Pratley

Children’s Nutrition Research Center Staff Publications

Background: Medical nutrition therapy is fundamental for managing glycemia and weight in type 1 diabetes, yet dietary guidance specific to this population and relevant subgroups is lacking.

Purpose: We synthesized the interventional literature investigating diet patterns for glycemic and weight management in youth and adults with type 1 diabetes, with attention to interindividual variation that suggests the need for precision approaches. The protocol was prospectively registered (CRD42024519941).

Data sources: AMED, CINAHL, Cochrane Library, Ovid MEDLINE, Ovid Embase, Google Scholar, and Web of Science Core Collection were searched from January 2011 to June 2024.

Study selection: Clinical trials ≥4 weeks with …

Genetic Determinants And Genomic Consequences Of Non-Leukemogenic Somatic Point Mutations, Joshua S Weinstock, Sharjeel A Chaudhry, Maria Ioannou, Maria Viskadourou, Paula Reventun, Yasminka A Jakubek, L Alexander Liggett, Cecelia Laurie, Jai G Broome, Alyna Khan, Kent D Taylor, Xiuqing Guo, Patricia A Peyser, Eric Boerwinkle, Nathalie Chami, Eimear E Kenny, Ruth J Loos, Bruce M Psaty, Russell P Tracy, Jennifer A Brody, Jeong H Yun, Michael H Cho, Ramachandran S Vasan, Sharon L Kardia, Jennifer A Smith, Laura M Raffield, Aurelian Bidulescu, Emily C O'Brien, Mariza De Andrade, Jerome I Rotter, Stephen S Rich, Russell P Tracy, Yii Der Ida Chen, C Charles Gu, Chao A Hsiung, Charles Kooperberg, Bernhard Haring, Rami Nassir, Rasika Mathias, Alex Reiner, Vijay G Sankaran, Charles J Lowenstein, Thomas W Blackwell, Goncalo R Abecasis, Albert V Smith, Hyun M Kang, Pradeep Natarajan, Siddhartha Jaiswal, Alexander Bick, Wendy S Post, Paul Scheet, Paul Auer, Theodoros Karantanos, Alexis Battle, Marios Arvanitis

Faculty, Staff and Students Publications

Clonal hematopoiesis (CH) is defined by the expansion of a lineage of genetically identical cells in blood. Genetic lesions that confer a fitness advantage, such as leukemogenic point mutations or mosaic chromosomal alterations (mCAs), are frequent mediators of CH. However, recent analyses of both single cell-derived colonies of hematopoietic cells and population sequencing cohorts have revealed CH frequently occurs in the absence of known driver genetic lesions. To characterize CH without known driver genetic lesions, we use 51,399 deeply sequenced whole genomes from the NHLBI TOPMed sequencing initiative to perform simultaneous germline and somatic mutation analyses among individuals without leukemogenic …

Two Commonly Reported Incidental Variants In Otc Are Associated With Late-Onset Disease, Steven H Lang, Russell S Lo, Gareth A Cromie, Aimée M Dudley, Nicholas Ah Mew, Kara Simpson, Vernon Reid Sutton, Sandra Darilek, Saima Ali, Matthew T Snyder, Brendan Lee, Ronit Marom, Sandesh C S Nagamani, Lindsay C Burrage

Faculty, Staff and Students Publications

Asymptomatic individuals with pathogenic variants in OTC, the gene encoding ornithine transcarbamylase are increasingly being identified through cascade testing, carrier screening, or as secondary findings from genome-wide sequencing tests. However, guidance for counseling and management of such individuals is currently lacking. We selected two common OTC variants for phenotypic and functional characterization: NM_000531.6:c.118C>T p.(Arg40Cys) and NM_000531.6:c.1061T>G p.(Phe354Cys). The former is the most frequently reported pathogenic/likely pathogenic missense variant present in gnomAD, and the latter has been frequently encountered in our clinical practice. We performed a retrospective chart review at our center, queried the database of the Urea Cycle …