Medicine and Health Sciences Commons^™

Difficult Conversation Case: Death Notification, Charles Lei, Tiffany Moadel, Suzanne Bentley, Amrita Vempati, David Fernandez, Daniela Ortiz, Anita Rohra, Stephanie Stapleton, Hillary Moss

Faculty, Staff and Students Publications

Audience: This case is meant for senior emergency medicine (EM) resident physicians as a preparatory tool for the American Board of Emergency Medicine Certifying Exam. However, it is applicable for EM residents at all levels of training.

Introduction: Difficult conversations are an integral part of the practice of emergency medicine. Competent EM physicians routinely engage in challenging conversations with patients and their families (eg, delivering bad news, disclosing medical errors, providing death notifications).1 Despite their importance, communication skills are often not formally taught in residency training.2 Instead, learners frequently rely on role modeling to develop the skills necessary to navigate …

Rationale And Design Of The Rembrandt Trial: A Phase 3 Study To Evaluate The Effect Of Obicetrapib/Ezetimibe On Coronary Plaque Characteristics, Cian P Mccarthy, Christie M Ballantyne, Ron Blankstein, Matthew J Budoff, Marc Ditmarsch, C Michael Gibson, John J P Kastelein, Ann Marie Navar, Stephen J Nicholls, Kausik K Ray, Cheerag Shirodaria, Michelle C Williams, James L Januzzi

Faculty, Staff and Students Publications

Background: Obicetrapib is a potent, selective cholesteryl ester transfer protein (CETP) inhibitor that significantly lowers low-density lipoprotein cholesterol (LDL-C). Additive reductions in LDL-C occur when obicetrapib is combined with ezetimibe. The impact of obicetrapib and ezetimibe fixed-dose combination (FDC) on coronary plaque burden is unknown. Favorable changes in noncalcified coronary atherosclerotic plaque volume (NCPV) may indicate a potential beneficial effect on atherosclerotic cardiovascular disease (ASCVD) events.

Methods: REMBRANDT is a placebo-controlled, double-blind, randomized trial designed to assess the efficacy of obicetrapib and ezetimibe FDC on coronary plaque burden. Individuals aged 45 years or older with ASCVD (imaging evidence of vascular …

Real-World Adherence And Effectiveness Of Inclisiran In Lowering Ldl-C: Results From 1 Year Of Follow-Up, Christie M Ballantyne, Timothy E Graham, Lucinda J Van Anglen, Bruce J Iteld, Harvey Serota, Xiaoli Niu, Sean Mcelligott, Kelly E Hanna, Tyler J Varisco

Faculty, Staff and Students Publications

Introduction: Atherosclerotic cardiovascular disease (ASCVD) is a global health concern. Reducing low-density lipoprotein cholesterol (LDL-C) is critical in ASCVD prevention and treatment. Inclisiran, a novel RNA therapeutic agent, offers a promising solution by lowering LDL-C with twice-yearly dosing after an initial and 3-month dose. The study objective was to evaluate adherence to inclisiran and its lipid-lowering effectiveness over a year of treatment.

Methods: This retrospective cohort study involved patients over 18 years old with ASCVD or hyperlipidemia who initiated inclisiran between January 1, 2022, and May 17, 2023, in US outpatient clinics. LDL-C reduction was evaluated in patients with ≥ …

Education Research: Eeg Instruction: Findings From A Scoping Review, Andres Fernandez, Maryam Asoodar, Gregory Laynor, Alexis Peedin, Jeffrey B Ratliff, Urvashi Vaid, Swati A Karmarkar, Moushumi Sur, Vivianne Van Kranen-Mastenbroek, Dimitrios Papanagnou, Marian H J M Majoie, Dorene F Balmer, Satid Thammasitboon

Faculty, Staff and Students Publications

Background and objectives: Although EEG interpretation is a key skill in neurology, EEG instruction is variable and its landscape remains underexplored. Thus, we conducted a scoping review to expand the literature by providing a structured mapping of the EEG instruction literature and a foundation for future research in EEG instruction.

Methods: We followed a structured methodological framework for scoping reviews and report the findings in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews. Research questions explored theoretical frameworks, methodologies, learner populations, instructional methods, and assessment approaches. Eligibility criteria were iteratively modified to focus …

Hes V20 Surpasses Galad For Hcc Detection: A Review Of Multi-Dimensional Biomarker Scores And Studies, Fouad Jaber, Hashem B El-Serag

Faculty, Staff and Students Publications

This was a narrative review of select studies published through September of 2024. We review the shift toward multi-dimensional scores such as HCC early detection screening (HES), GALAD, ASAP, and mt-HBT represents a significant advancement in biomarker research for hepatocellular carcinoma (HCC) detection. Unlike single biomarker approaches, these scores integrate various clinical and biochemical factors to enhance predictive accuracy by reflecting different complementary aspects of disease progression and HCC oncogenesis. Proper testing and validation of biomarker scores in phase 3 biomarker studies is essential before wide use can be recommended. We also review the comparative performance of biomarker scores in …

The Neonatal Gut Microbiome In Health And Disease, Geoffrey A Preidis

Faculty, Staff and Students Publications

No abstract provided.

Factors Associated With Child Protective Services Referrals In Young Children With Isolated Skull Fractures, Karli Breeden-Carino, Joanne N Wood, Cindy W Christian, Tagrid M Ruiz-Maldonado, Daniel M Lindberg, Angela Bachim, Lori Frasier, Terra N Frazier, Nancy S Harper, Sara E Kruczek, Farah Brink, Jennifer E Wolford, Jan Leonard, M Katherine Henry

Faculty, Staff and Students Publications

Objective: Many young children with isolated skull fractures are referred to child protective services (CPS) despite being assessed to have a low likelihood of abuse. We sought to identify factors associated with CPS referrals in this population and to quantify hospital-level variation.

Methods: We performed a multicenter retrospective cross-sectional study of children < 2 years with skull fractures with or without a small underlying intracranial hemorrhage (ICH) and no additional injuries undergoing a child abuse pediatrics (CAP) subspecialty evaluation. We explored associations between demographic factors, clinical characteristics, psychosocial risk factors, and hospital site with CPS referral status. We performed multivariable logistic regression, adjusting for transfer status and all significant covariates from unadjusted analyses. We utilized marginal standardization to calculate the estimated probability of CPS referrals at each site, adjusting for all factors in the final model.

Results: Of 528 children, 303 (57.4%) were referred to CPS, with 86.5% referred prior to CAP consultation. In multivariable logistic regression, presence of psychosocial risk factors (OR 4.00; 95% CI 2.25, 7.11), in-person CAP consult (OR 3.93; 1.61, 9.62), inflicted or no trauma history provided (OR 6.15; 3.30, …

Adrenomedullin Overexpression Protects Mice From Experimental Bronchopulmonary Dysplasia And Associated Pulmonary Hypertension, Shyam Thapa, Poonam Sarkar, M Waleed Gaber, Roberto Barrios, Madhulata Chauhan, Chandrasekhar Yallampalli, Binoy Shivanna

Faculty, Staff and Students Publications

Bronchopulmonary dysplasia (BPD) associated pulmonary hypertension (PH) or BPD-PH is a lung disease of infants with significant morbidity. Adrenomedullin (Adm) is an angiogenic peptide that signals through calcitonin receptor-like receptor (Calcrl) and receptor activity modifying protein 2 (RAMP2). Adm deficiency potentiates hyperoxia-induced experimental BPD-PH in mice; however, whether Adm overexpression can mitigate this lung disease is unclear. Thus, we tested the hypothesis that Adm overexpression attenuates hyperoxia (HO)-induced murine experimental BPD-PH by using a novel transgenic mouse that overexpresses Adm globally (Admhi/hi mice). One-day-old Admhi/hi mice or their wild-type littermates (Adm+/+ mice) were exposed to …

Health-Related Quality Of Life After Neonatal Treatment Of Symptomatic Tetralogy Of Fallot: Insights From The Congenital Cardiac Research Collaborative, George T Nicholson, Jeffrey D Zampi, Andrew C Glatz, Bryan H Goldstein, Christopher J Petit, Yun Zhang, Courtney E Mccracken, Athar M Qureshi, Caren S Goldberg, Jennifer C Romano, Mark A Law, Jeffery J Meadows, Shabana Shahanavaz, Sarosh P Batlivala, Shiraz A Maskatia, Asaad Beshish, Michael L O'Byrne, R Allen Ligon, Kathryn O Stack, Hala Q Khan, Shalin Parekh, Dawn L Ilardi

Faculty, Staff and Students Publications

To evaluate the association between initial management strategy of neonatal symptomatic Tetralogy of Fallot (sTOF) and later health-related quality of life (HRQOL) outcomes. We performed a multicenter, cross-sectional evaluation of a previously assembled cohort of infants with sTOF who underwent initial intervention at ≤ 30 days of age, between 2005 and 2017. Eligible patients’ parents/guardians completed an age-appropriate Pediatric Quality of Life Inventory, a Pediatric Quality of Life Inventory Cardiac Module Heart Disease Symptoms Scale, and a parental survey. The association between treatment strategy and HRQOL was evaluated, and the entire sTOF cohort was compared to published values for the …

Resilience And Childhood Trauma In Mood Disorders: Psychopathological Implications And Treatment Response, Giovanni Camardese, Antonio Maria D'Onofrio, Francesca Bardi, Alessio Simonetti, Alexia Koukopoulos, Delfina Janiri, Lorenzo Moccia, Marianna Mazza, Mauro Pettorruso, Giovanni Martinotti, Gabriele Sani

Faculty, Staff and Students Publications

Background and aim: Childhood trauma is a key risk factor for mood disorders and is associated with greater clinical severity, while resilience may act as a protective factor. This study investigates how childhood trauma and resilience interact to shape psychopathology and treatment response in patients with major depressive disorder (MDD) and bipolar disorder (BD).

Methods: The study included 669 participants: 569 patients (380 MDD, 189 BD) and 100 healthy controls (HC). Symptom severity was assessed using standardized scales, with follow-up evaluations of depressive symptoms at six months. All participants completed the Childhood Trauma Questionnaire (CTQ) and Connor-Davidson Resilience Scale (CD-RISC). …

Evaluating Covid-19 Severity Prediction And Immune Dynamics With Nulisaseq: Insights From The Impacc Study, Koji Abe, Tyson H Holmes, Tran T Nguyen, Seunghee Kim-Schulze, Ofer Levy, Lindsey R Baden, Esther Melamed, Lauren I R Ehrlich, Grace A Mccomsey, Rafick P Sekaly, Charles B Cairns, Elias K Haddad, Albert C Shaw, David A Hafler, Ruth R Montgomery, David B Corry, Farrah Kheradmand, Mark A Atkinson, Scott C Brakenridge, Nelson I Agudelo Higuita, Jordan P Metcalf, Catherine L Hough, William B Messer, Bali Pulendran, Kari C Nadeau, Mark M Davis, Ana Fernandez-Sesma, Viviana Simon, Monica Kraft, Chris Bime, Carolyn S Calfee, David J Erle, Joanna Schaenman, Elaine F Reed, Al Ozonoff, Bjoern Peters, Steven H Kleinstein, Alison D Augustine, Joann Diray-Arce, Patrice M Becker, Nadine Rouphael, Holden T Maecker

Faculty, Staff and Students Publications

The National Institutes of Health-funded IMPACC (IMmunoPhenotyping Assessment in a COVID-19 Cohort) evaluated longitudinal clinical and immunological features of human patients hospitalized for COVID-19. This study focuses on comparing the novel NULISAseq assay with the Olink platform using a subset of participants to assess their efficacy in predicting COVID-19 severity and understanding immune response dynamics. Our findings reveal that NULISAseq could provide superior detectability and dynamic range across various targets. Elastic net analysis demonstrated that specific proteins, including amphiregulin, effectively predict COVID-19 severity from sera at admission (samples drawn within 96 h of admission), with a test area under the …

Administration Of A Novel Reprogramming Formula Improves Cardiac Function And Decreases Cardiac Fibrosis In A Myocardial Infarction Model, Megumi Mathison, Saliha S Pathan, Aliya Lackan, Jianchang Yang, Tamer M A Mohamed, Todd K Rosengart

Faculty, Staff and Students Publications

Background: The reprogramming of fibroblasts into (induced) cardiomyocytes offers a direct myocardial regeneration strategy for improving postinfarction myocardial function. Compared to lower-order species, human cells are relatively resistant to such reprogramming. We previously found that p63-transactivation inhibitory domain (TID; the portion of p63 that physical interacts and interferes with its activation of the epigenetic repressor HDAC1) combined with the cardio-differentiation factors Hand2 and Myocardin (HM) enhanced rat and human cell transdifferentiation. The present study sought to determine the in vivo effects of this reprogramming strategy in a rat myocardial infarction model.

Methods: Adult male and female rats underwent left anterior …

The State Of Educational Research In Cardiothoracic Surgery: A Review Of The Literature, Amirtha Shekar, Victoria Hart, John Treffalls, Travis J Miles, Todd K Rosengart, Marc R Moon, Joseph S Coselli, Lauren M Barron, Shawn S Groth, Shanda H Blackmon, Ravi K Ghanta, Dawn S Hui, Subhasis Chatterjee

Faculty, Staff and Students Publications

Objective: Evolving training paradigms in cardiothoracic surgery (CTS) are changing the educational needs of integrated residents and traditional fellows. Educational research is important for evaluating specialty training. This study assessed CTS education articles to analyze their prevalence, content, and reach.

Methods: In a cross-sectional observational study of education articles published on North American CTS programs from January 2013 through December 2023, articles were identified by querying PubMed, other databases, and journals. Articles that passed an initial abstract review underwent full-text review. Articles were organized by content into 9 categories: curriculum, simulation, trainee assessment, program evaluation, wellness/burnout, diversity/inclusion, mentorship/career, outcomes, and …

Rescue Bare-Metal Device Placement To Treat Iatrogenic Acute Type A Aortic Dissection During Transcatheter Aortic Valve Replacement, Hiroaki Osada, José G Diez, Ahmed Khouqeer, Susan Y Green, Marc R Moon, Vicente Orozco-Sevilla, Joseph S Coselli

Faculty, Staff and Students Publications

No abstract provided.

Publisher Correction: Piezo1 Regulates Meningeal Lymphatic Vessel Drainage And Alleviates Excessive Csf Accumulation, Dongwon Choi, Eunkyung Park, Joshua Choi, Renhao Lu, Jin Suh Yu, Chiyoon Kim, Luping Zhao, James Yu, Brandon Nakashima, Sunju Lee, Dhruv Singhal, Joshua P Scallan, Bin Zhou, Chester J Koh, Esak Lee, Young-Kwon Hong

Faculty, Staff and Students Publications

No abstract provided.

Part Ii Common Questions And Misconceptions About Creatine Supplementation: What Does The Scientific Evidence Really Show?, Jose Antonio, Ann F Brown, Darren G Candow, Philip D Chilibeck, Stacey J Ellery, Scott C Forbes, Bruno Gualano, Andrew R Jagim, Chad Kerksick, Richard B Kreider, Sergej M Ostojic, Eric S Rawson, Michael D Roberts, Hamilton Roschel, Abbie E Smith-Ryan, Jeffrey R Stout, Mark A Tarnopolsky, Trisha A Vandusseldorp, Darryn S Willoughby, Tim N Ziegenfuss

Faculty, Staff and Students Publications

Creatine monohydrate supplementation (CrM) is a safe and effective intervention for improving certain aspects of sport, exercise performance, and health across the lifespan. Despite its evidence-based pedigree, several questions and misconceptions about CrM remain. To initially address some of these concerns, our group published a narrative review in 2021 discussing the scientific evidence as to whether CrM leads to water retention and fat accumulation, is a steroid, causes hair loss, dehydration or muscle cramping, adversely affects renal and liver function, and if CrM is safe and/or effective for children, adolescents, biological females, and older adults. As a follow-up, the purpose …

Cross-Species Standardised Cortico-Subcortical Tractography, Stephania Assimopoulos, Shaun Warrington, Davide Folloni, Katherine Bryant, Ali-Reza Mohammadi-Nejad, Wei Tang, Saad Jbabdi, Sarah R Heilbronner, Rogier B Mars, Stamatios N Sotiropoulos

Faculty, Staff and Students Publications

Despite their importance for brain function, cortico-subcortical white matter tracts are under-represented in diffusion magnetic resonance imaging tractography studies. Their non-invasive mapping is more challenging and less explored compared to other major cortico-cortical bundles. We introduce a set of standardised tractography protocols for delineating tracts between the cortex and various deep subcortical structures, including the caudate, putamen, amygdala, thalamus, and hippocampus. To enable comparative studies, our protocols are designed for both human and macaque brains. We demonstrate how tractography reconstructions follow topographical principles obtained from tracers in the macaque and how these translate to humans. We show that the proposed …

Diaphragm Resuspension To Titanium Neo-Ribs: A Technique For Chest-Wall Reconstruction Involving The Costal Margin, Patrick Mcgeoghegan, Vuong-Lam Pham, Cristian Medina, Sebastian Winocour, Robert Taylor Ripley, Ramiro Fernandez

Faculty, Staff and Students Publications

No abstract provided.

Using Robotic Single-Port Vnotes For Gynaecological Oncology: Omentectomy In A Patient With An Ovarian Granulosa Cell Tumor-A Case Study, Chunhua Zhang, Qing Li, Fang Fang, Xiaoming Guan

Faculty, Staff and Students Publications

Background: Robotic single-port transvaginal natural orifice transluminal endoscopic surgery (RSP-vNOTES) is an emerging minimally invasive approach that combines the advantages of robotic surgery with scarless transvaginal access. Its application in gynecologic oncology remains limited, particularly for omentectomy during ovarian cancer staging.

Methods: We present the case of a 45-year-old woman with an ovarian granulosa cell tumor (GCT) who underwent supplemental staging surgery following unilateral oophorectomy. Using a single-port robotic system via the transvaginal route, hysterectomy, right salpingo-oophorectomy, and omentectomy were performed. Key technical steps included enhanced visualization with gauze placement and use of an additional robotic arm for omental traction. …

Transcriptional Coregulator Zmiz1 Modulates Estrogen Responses That Are Essential For Healthy Endometrial Function, Sylvia C Hewitt, Frank Orellana, Ryan M Marquardt, Myeongjin Yi, Cynthia J Willson, Mark Y Chiang, Yong Song, Goutham Venkata Naga Davuluri, Christopher Day, Ramakrishna Kommagani, Joseph Rodriguez, Asgerally T Fazleabas, John P Lydon, Francesco J Demayo

Faculty, Staff and Students Publications

Estrogen is a critical regulator of endometrial health. Aberrant estrogen stimulation can result in infertility, endometrial cancer, and endometriosis. Here, we identified Zinc Finger MIZ-Type Containing 1 (Zmiz1) as a coregulator of uterine estrogen signaling. ZMIZ1 is colocalized with an estrogen receptor α–binding (ESR1-binding) super enhancer. ZMIZ1 mutations are found in endometrial cancer and its RNA levels trend toward reduction in endometrium of patients with endometriosis. ZMIZ1 is dynamically expressed in human endometrial tissues during the menstrual cycle. Disrupting ZMIZ1 in cultured human endometrial stromal cells resulted in impaired cell proliferation and decidual differentiation. Ablation of Zmiz1 using …

Cerebellar Purkinje Cell Stripe Patterns Reveal A Differential Vulnerability And Resistance To Cell Loss During Normal Aging In Mice, Sarah G Donofrio, Cheryl Brandenburg, Amanda M Brown, Tao Lin, Hsiang-Chih Lu, Roy V Sillitoe

Faculty, Staff and Students Publications

Age-related neurodegenerative diseases involve reduced cell numbers and impaired behavioral capacity. Neurodegeneration and behavioral deficits also occur during aging, and notably in the absence of disease. The cerebellum, which modulates movement and cognition, is susceptible to cell loss in both aging and disease. Here, we demonstrate that cerebellar Purkinje cell loss in aged mice is not spatially random but rather occurs in a pattern of parasagittal stripes. We also find that aged mice exhibit impaired motor coordination and more severe tremor compared to younger mice. However, the relationship between patterned Purkinje cell loss and motor dysfunction is not straightforward. Examination …

Hemophagocytic Lymphohistiocytosis In A Pediatric Lung Transplant Recipient, Sunil Chickmagalur, Anna Schrader, Dallas Parrish, David Moreno Mcneill, Maria C Gazzaneo, Ernestina Melicoff-Portillo, Nahir Cortes-Santiago

Faculty, Staff and Students Publications

Background: Hemophagocytic lymphohistiocytosis (HLH) is a rare complication of solid organ transplantation and is a syndrome of systemic hyperinflammation secondary to dysregulation of the inflammatory response, primarily involving lymphocytes and macrophages. It is often fatal and therefore early recognition and treatment are crucial. Among 11 adult cases of HLH in post-lung transplant cases found in the literature, only one patient survived.

Case: We report the first known pediatric case of HLH following lung transplantation. The patient, a previously healthy adolescent, developed end-stage bullous lung disease secondary to acute respiratory distress syndrome (ARDS) and underwent bilateral lung transplantation. Two months posttransplant, …

Bridging The Gap: From Early Recognition To Timely Referral For Cardiac Implantable Electronic Devices Infections, M Rizwan Sohail, Sarwat Khalil, Molly L Paras, Christopher B Granger, Andrew Uehlin, Yu-Rong Gao, Zerelda Esquer Garrigos

Faculty, Staff and Students Publications

An increasing number of patients are living with cardiac implantable electronic devices (CIEDs). When a patient with a CIED is hospitalized with concern for infection or positive blood cultures from any source, recognizing and managing a possible CIED infection is critical due to its significant morbidity and mortality risk. Internists are often the first to evaluate these patients and must consider the possibility of an underlying device infection. Gram-positive bacteremia carries a high risk of CIED infection, often necessitating cardiac imaging. In contrast, hematogenous seeding with gram-negative bacteremia is infrequent. Patients with clinical or imaging evidence of device infection should …

Lilrb4 Regulates Circadian Disruption-Induced Mammary Tumorigenesis Via Non-Canonical Wnt Signaling Pathway, Olajumoke Ogunlusi, Mrinmoy Sarkar, Kayla Carter, Arhit Chakrabarti, Devon J Boland, Tristan Nguyen, James Sampson, Christian Nguyen, Danielle Fails, Yava Jones-Hall, Loning Fu, Gus Wright, Da Mi Kim, James J Cai, Bani Mallick, Alex C Keene, Jeff R Jones, Tapasree Roy Sarkar

Faculty, Staff and Students Publications

Epidemiological studies have shown that circadian rhythm disruption (CRD) is associated with the risk of breast cancer. However, the role of CRD in mammary gland morphology and aggressive basal mammary tumorigenesis and the molecular mechanism underlying CRD-induced carcinogenesis remain unknown. To investigate the effect of CRD on aggressive tumorigenesis, a genetically engineered mouse model of aggressive breast cancer was used. The impact of CRD on the tumor microenvironment was investigated using the tumors from LD12:12 and CRD mice via scRNA-seq, flow cytometry, multiplexing immunostaining, and realtime PCR. The effect of LILRB4-immunotherapy on CRD-induced tumorigenesis was also investigated. Here we investigated …

Biochemical And Clinical Response To A Sulfur-Restricted Diet In Ethylmalonic Encephalopathy, Steven H Lang, Andres Caceres Salgado, Matthew T Snyder, Brandy Rawls-Castillo, Aaron Williams, Charul Gijavanekar, Sarah H Elsea, Xia Wang, Mary Elizabeth M Tessier, Claudia Soler-Alfonso, Fernando Scaglia

Faculty, Staff and Students Publications

Introduction: Ethylmalonic encephalopathy (EE) is an often-severe inborn error of metabolism caused by biallelic variants in the ETHE1 gene leading to impaired detoxification of hydrogen sulfide (H2S). H2S is produced both exogenously by anerobic intestinal bacteria as well as by the endogenous catabolism of the sulfur-containing amino acids methionine and cysteine. Existing therapies including metronidazole, N-acetylcysteine (NAC), and orthotopic liver transplantation (OLT) have been pursued with the objective of reducing or detoxifying exogenously produced H2S. However, strategies to reduce endogenously produced H2S using a methionine and cysteine restricted diet are an understudied therapeutic avenue.

Methods: We performed an open-label, …

Clinical Exome Sequencing Efficacy And Phenotypic Expansions Involving Non-Isolated Congenital Anomalies Of Kidney And Urinary Tract (Cakut+), E Andres Rivera-Munoz, Xiaonan E Zhao, Jill A Rosenfeld, Pamela N Luna, Chad A Shaw, Jennifer E Posey, Daryl A Scott

Faculty, Staff and Students Publications

Congenital Anomalies of Kidney and Urinary Tract (CAKUT) can occur in isolation or in conjunction with one or more non-CAKUT associated congenital anomalies or neurodevelopmental disorders (CAKUT+). A molecular cause is not identified in most individuals with CAKUT+. This is due, in part, to uncertainty regarding the efficacy of genetic testing and an incomplete understanding of the genes that cause CAKUT+. Here, we use data from 515 individuals with CAKUT+ (n = 500) or isolated CAKUT (n = 15) to determine the efficacy of clinical exome sequencing (cES) and to identify new phenotype expansions that involve CAKUT. We determined that …

Genetics Services In Latin America: A Descriptive Study Of Availability And Utilization Of Genetics In Healthcare, Ryan J German, Erin Atkinson, Eric A Storch, Claudia Soler-Alfonso, Sonia Margarit, Philip J Lupo, Stacey Pereira

Faculty, Staff and Students Publications

Genetic services are expanding globally, but access remains limited in low-resource regions such as Latin America. Understanding current service availability, barriers, and facilitators is critical to guide capacity building and improve patient care. We conducted a cross-sectional survey of healthcare professionals providing genetic services in Latin America. The survey, available in Spanish and English, assessed genetic services, referral patterns, testing availability, barriers, facilitators, and perceived needs. Descriptive statistics summarized quantitative data, and thematic analysis was applied to open-ended responses. Eighty-five respondents from 18 countries reported broad clinical activity across pediatric, cancer, and adult-onset genetic conditions. Commonly ordered tests included karyotype, …

A Transdiagnostic, Multi-Modal Approach To Understanding Apathy: Methodological And Analytical Framework, Yunglin Gazes, Hideo Suzuki, Lee-Anne Morris, Seonjoo Lee, Zekai Jin, Edward D Huey, Bryan B Chen, Campbell Le Heron, Sarah R Heibronner, Nora Vanegas-Arroyave

Faculty, Staff and Students Publications

Apathy is characterized by loss of motivation and manifests as a reduction of goal-directed behavior. Apathy is highly prevalent across neurodegenerative diseases, including Alzheimer's Disease (AD) and Parkinson's Disease (PD), and is an important contributor to the disability and reduce quality of life in these conditions. The treatment of apathy remains challenging due to a lack of specific therapies, largely attributed to an incomplete understanding of its cognitive and neuroanatomical underpinnings, crucial for developing targeted interventions. Apathy can be mechanistically studied through effort-based decision-making (EBDM) paradigms, where individuals choose between low- and high-effort tasks for varying reward magnitudes. Anatomically, apathy …

The Association Between Condom Use Self-Efficacy And Condom-Decision Abdication Among College Students, Mikaela Gjoka, Madison K Firkey, Alan Z Sheinfil, Sarah E Woolf-King

Faculty, Staff and Students Publications

Objective: Condomless sex and its related consequences are a persistent problem on college campuses in the United States. This study aimed to examine the association between condom use self-efficacy and condom-decision abdication among college students, and whether this association was moderated by gender.

Participants & methods: Undergraduate college students (N = 212; 50.5% female) were recruited via Amazon Mechanical Turk as part of a larger online study that examined normative feedback for condom use.

Results: The association between condom use self-efficacy and condom-decision abdication was significantly moderated by gender (B = -0.07, p < .001), such that condom use self-efficacy was associated with condom-decision abdication in college women (B = -0.05, p < .005) but not in college men (B = .02, p = .18).

Conclusion: Findings from this study suggest that …

Fast And Accurate Measurement Of Small Field Dosimetry Using A Novel Scintillation Detector, Yiding Han, Jingzhu Xu, Yao Hao, Baozhou Sun

Faculty, Staff and Students Publications

Background: The most used instruments for small-field dosimetry have notable limitations, including the need for correction of output factors, limited scanning speeds, and challenges in alignment for percentage depth dose (PDD) measurements, particularly for extremely small fields. However, plastic scintillation detectors (PSDs) are an attractive alternative for small-field dosimetry due to their correction-free nature, linear dose response, and fast response time.

Purpose: This study evaluates the robustness and accuracy of the dosimetric measurements using a new water-equivalent PSD in small-field dosimetry. The study also aims to report accurate measurements of output factors, profiles, and an indirect method for measuring PDD …