Medicine and Health Sciences Commons^™

Exercise For Postmenopausal Bone Health – Can We Raise The Bar?, Shejil Kumar, Cassandra Smith, Roderick J. Clifton-Bligh, Belinda R. Beck, Christian M. Girgis

Research outputs 2022 to 2026

Purpose of Review: This review summarises the latest evidence on effects of exercise on falls prevention, bone mineral density (BMD) and fragility fracture risk in postmenopausal women, explores hypotheses underpinning exercise-mediated effects on BMD and sheds light on innovative concepts to better understand and harness the skeletal benefits of exercise. Recent Findings: Multimodal exercise programs incorporating challenging balance exercises can prevent falls. Emerging clinical trial evidence indicates supervised progressive high-intensity resistance and impact training (HiRIT) is efficacious in increasing lumbar spine BMD and is safe and well-tolerated in postmenopausal women with osteoporosis/osteopenia. There remains uncertainty regarding durability of this load-induced …

The Influence Of The Marker Set On Inverse Kinematics Results To Inform Markerless Motion Capture Annotations, Marion Mundt, David Pagnon, Steffi Colyer

Research outputs 2022 to 2026

Markerless motion capture has the potential to enable biomechanical analyses without specialised, high-cost equipment. However, the comparability of many markerless motion capture frameworks with the most used marker-based method is limited. One reason for this is the lack of high-quality, biomechanically-informed datasets that are needed to train markerless models. This study aimed to inform the development of such a dataset by systematically analysing the agreement between a gold-standard marker set and a reduced number of markers to solve inverse kinematics (IK). We analysed the impact of different marker positions on the IK solution using an OpenSim lower body model with …

Incidence Of Health Problems In Australian Mixed Martial Arts And Muay Thai Competitors: A 14-Month Study Of 26 Combat Sports Events, Colin S. Doherty, Oliver R. Barley, Lauren V. Fortington

Research outputs 2022 to 2026

Background: Mixed martial arts (MMA) and Muay Thai (MT) are widely practiced combat sports, yet research on the full spectrum of competition-related health problems (HPs) remains limited, particularly for MT. Existing studies in both sports primarily focus on retrospective analyses of severe injuries, often estimating time lost from training or competition. This study describes the incidence of all competition HPs reported seven days after MMA and MT contests, and determines the number of days impacted by tracking athletes’ self-identified worst HPs until resolution. Methods: Data on competition HPs were collected using an online questionnaire completed seven days after each MMA …

Promises And Perils Of Generative Artificial Intelligence: A Narrative Review Informing Its Ethical And Practical Applications In Clinical Exercise Physiology, Oscar Lederman, Alessandro Llana, James Murray, Robert Stanton, Ritesh Chugh, Darren Haywood, Amanda Burdett, Geoff Warman, Joanne Walker, Nicolas H. Hart

Research outputs 2022 to 2026

Generative Artificial Intelligence (GenAI) is transforming various sectors, including healthcare, offering both promising opportunities and notable risks. The infancy and rapid development of GenAI raises questions regarding its effective, safe, and ethical use by health professionals, including clinical exercise physiologists. This narrative review aims to explore existing interdisciplinary literature and summarise the ethical and practical considerations of integrating GenAI into clinical exercise physiology practice. Specifically, it examines the ‘promises’ of improved exercise programming and healthcare delivery, as well as the ‘perils’ related to data privacy, person-centred care, and equitable access. Recommendations for the responsible integration of GenAI in clinical exercise …

Trajectories Of Plant-Based Dietary Patterns And Their Sex-Specific Associations With Cardiometabolic Health Among Young Australian Adults, Laura E. Marchese, Sarah A. Mcnaughton, Gilly A. Hendrie, Priscila P. Machado, Therese A. O’Sullivan, Lawrence J. Beilin, Trevor A. Mori, Kacie M. Dickinson, Katherine M. Livingstone

Research outputs 2022 to 2026

Background: Plant-based diets are associated with favourable cardiovascular health markers. Although increasingly consumed among younger demographics, it is unclear how plant-based diet quality tracks from adolescence to young adulthood, and how this impacts cardiovascular health later in life. Thus, this study aimed to explore trajectories of plant-based dietary patterns from adolescence to young adulthood and investigate associations with cardiometabolic health markers in young Australian adults. Methods: Longitudinal data from 417 participants from the Raine Study were included. Semi-quantitative food frequency questionnaires conducted at 14, 20, and 27 years of were used to derive three plant-based diet quality index scores: an …

Sleep Irregularity Is Associated With Night-Time Technology, Dysfunctional Sleep Beliefs And Subjective Sleep Parameters Amongst Female University Students, Teresa Arora, Fernando Vaquerizo-Villar, Roberto Hornero, David Gozal

All Works

Sleep irregularity has been linked to multiple deleterious consequences in clinical populations or community adults and adolescents, but little is known about young adults. In this study, we explored the relationships between two measures of sleep regularity and a wide range of factors (lifestyle behaviors, subjective sleep, clinical outcomes, and academic performance) in a sample of female, university students in the United Arab Emirates. A total of 176 participants were recruited. Objective estimates of sleep–wake patterns were obtained using seven-day wrist actigraphy and data were used to calculate daily sleep regularity with the Sleep Regularity Index (SRI) and weekly sleep …

The Contribution Of Audition And Proprioception In Unisensory And Multisensory Target Reaching, Ivan Camponogara

All Works

Everyday actions often involve reaching for targets sensed by auditory and proprioceptive senses (reaching a ringing smartphone in the dark or tapping on it while holding it with the other hand). However, it is still unclear whether reaching performance toward auditory and proprioceptive targets is modality-specific and whether performance improves under multisensory compared to unisensory conditions. Here, we addressed these questions by measuring reaching performance toward auditory, proprioceptive, and combined audio-proprioceptive targets along the azimuth and depth dimensions. Accuracy was similar along the azimuth dimension, whereas precision was generally lower for auditory targets compared to proprioceptive and audio-proprioceptive targets. A …

Loss Of The Lysosomal Protein Cln3 Triggers C-Abl-Dependent Yap1 Pro-Apoptotic Signaling, Neuza Domingues, Alessia Calcagni', Sofia Freire, Joana Pires, Ricardo Casqueiro, Ivan L Salazar, Niculin Joachim Herz, Tuong Huynh, Katarzyna Wieciorek, Tiago Fleming Outeiro, Henrique Girão, Ira Milosevic, Andrea Ballabio, Nuno Raimundo

Duncan NRI Faculty and Staff Publications

Batten disease is characterized by early-onset blindness, juvenile dementia and death within the second decade of life. The most common genetic cause are mutations in CLN3, encoding a lysosomal protein. Currently, no therapies targeting disease progression are available, largely because its molecular mechanisms remain poorly understood. To understand how CLN3 loss affects cellular signaling, we generated human CLN3 knock-out cells (CLN3-KO) and performed RNA-seq analysis. Our multi-dimensional analysis reveals the transcriptional regulator YAP1 as a key factor in remodeling the transcriptome in CLN3-KO cells. YAP1-mediated pro-apoptotic signaling is also increased as a consequence of CLN3 functional loss in retinal pigment …

From Bladder To Brain: How You Know When It’S Time To Go, Anne M J Verstegen, Kara L Marshall

Duncan NRI Faculty and Staff Publications

The decision to urinate relies on assessing bladder fullness and context to determine an appropriate time and place to go. Any disruption in this interoceptive process results in frequent and sometimes debilitating consequences in daily life. Recent work has uncovered key pathways and brain regions that contribute to the sense of bladder stretch and the control of urinary reflexes, but many open questions remain. Here, we review the known mechanisms that convey sensory information from the bladder to the brain and back down again, and we highlight the knowledge gaps and opportunities for better understanding this system, which will be …

Breaking The Silence With Routine Genitourinary Syndrome Of Menopause Screening: A Quality Improvement Project, Ashley R. Noel

Electronic Theses and Dissertations

Affecting upwards of 87% of women in post menopause, genitourinary syndrome of menopause is greatly under-diagnosed, and consequently, under-treated. Genitourinary syndrome of menopause refers to health conditions impacted by hypoestrogenic state experienced in menopause. Common symptoms of GSM include vaginal dryness, irritation, clitoral or labial atrophy, dyspareunia, decreased libido, anorgasmia, dysuria, recurrent UTI, urinary incontinence (Kaufman et al., 2025). Despite the burdensome consequences of GSM, women are unlikely to vocalize their symptoms and seek treatment. Additionally, societal beliefs of shame surrounding sexual health impede patients and clinicians from addressing GSM specifically (Mili et al., 2021). As a result, the North …

Safety In Stability: A Cdc-Guided Evaluation Of Hospital Fall Prevention Practices, Matthew C. Dougherty

Electronic Theses and Dissertations

Hospital falls remain a persistent and preventable cause of patient harm, emphasizing the need for continuous evaluation of fall prevention practices. This project assessed the effectiveness of AdventHealth Orlando’s fall prevention policy using the Centers for Disease Control and Prevention (CDC) Program Evaluation Framework. A mixed-methods design incorporated quantitative analysis of 12 months of fall data and qualitative feedback from frontline staff surveys and discussions. Results demonstrated a decrease in total falls from 549 in the previous year to 528 in the current year, indicating early progress despite the incomplete reporting period. Unit-level analysis showed a mean improvement of 16.9% …

Enhancing Provider Knowledge And Implementation Of Medication For Opioid Use Disorder (Moud) To Improve Treatment Outcomes: A Quality Improvement Project., Motunrayo Abigael Ibraheem

Electronic Theses and Dissertations

This quality improvement project sought to enhance healthcare providers' knowledge and attitudes toward Medication for Opioid Use Disorder (MOUD) at Galt Ocean Rehab Center to improve treatment outcomes for patients with opioid use disorder. Despite evidence supporting the efficacy of MOUD, significant knowledge gaps and stigmatizing attitudes among providers create barriers to optimal care. Sixteen healthcare providers participated in a comprehensive educational intervention grounded in Jean Watson's Theory of Transpersonal Caring and the Institute for Healthcare Improvement's Model for Improvement. The intervention consisted of a 4-hour workshop, six weekly reinforcement sessions, and the implementation of standardized buprenorphine management protocols. Pre- …

A Contemporary Guide To An International Aortic Super-Fellowship For Surgical Trainees And Surgeons In The United States, Roberto G. Aru, Adam W. Beck, Stéphan Haulon

Department of Surgery Faculty Papers

Fenestrated and branched technology for endovascular aortic repair of the thoracoabdominal aorta and aortic arch has evolved significantly over the last decade. The spectrum of these devices is largely available outside the United States (US), while patient-specific company manufactured devices are limited to ten sites in the US, with ongoing expanding use of market-approved off-the-shelf devices. The necessary environment for appropriate education to ensure safe dissemination of these technologies is limited, and the current centralization of both device availability and skillsets affects trainee education. In order to refine their endovascular treatment algorithm and planning/implantation skillsets at these multidisciplinary aortic centers, …

Net Effects Of Correlated Determinants Of Health Among U.S. Older Adults, Haomiao Jia, E I. Lubetkin

Publications and Research

Background

The health effect produced by a contributing factor alone may be different from the effect when other interacting factors are present. The effects of a set of contributors, estimated by regression coefficients, may be invalid or inappropriate if some of the predictors are correlated or the model has interaction and nonlinear terms. The net effect (NE) of a given contributing factor is the effect produced by the factor alone, not by other factors due to their correlations with the factor of interest. This study estimated NE of selected determinants of health for U.S. older adults.

Methods

Participants, aged ≥ …

A Human Factors Analysis And Classification System (Hfacs) Approach To Compare Cardiovascular, Orthopedics, Trauma Care, And Neurosurgery, Asfandyar Khan

Doctoral Dissertations and Master's Theses

Background: Despite significant progress in patient safety, human error continues to occur at high rates in procedural settings. Traditional safety models tend to focus on retrospective incident analysis, often overlooking the systemic conditions that allow errors to occur. The Human Factors Analysis and Classification System (HFACS) offers a proactive lens to understand how and where errors emerge and is useful for identifying active and latent failures.

Objective: To evaluate the utility and reliability of the Human Factors Analysis and Classification System (HFACS) in categorizing and comparing the pattern of frequencies (events) in cardiovascular, orthopedic, trauma care, and neurosurgical procedure.

Design, …

Real-Time Estimated Sequential Organ Failure Assessment (Sofa) Score With Intervals: Improved Risk Monitoring With Estimated Uncertainty In Health Condition For Patients In Intensive Care Units, Yan He, Qian Luo, Hai Wang, Zhichao Zheng, Haidong Luo, Oon Cheong Ooi

Research Collection Lee Kong Chian School Of Business

Purpose: Real-time risk monitoring is critical but challenging in intensive care units (ICUs) due to the lack of real-time updates for most clinical variables. Although real-time predictions have been integrated into various risk-scoring systems to aid monitoring, existing systems do not address uncertainties in risk assessments. We developed an enhanced risk monitoring framework based on commonly used systems like the Sequential Organ Failure Assessment (SOFA) score by incorporating uncertainties to improve the effectiveness of real-time risk monitoring in ICUs.Methods: This study included 5,351 patients admitted to the Cardiothoracic ICU in the National University Hospital in Singapore. We developed machine learning …

Public Views Towards Lifespan, Healthspan, And Healthy Longevity Medicine In Singapore: A Qualitative Study From The Healthy Longevity (Helo) Initiatives, Belinda Wang, Anna Szucs, Elena Sandalova, Zhi Meng Lim, E. J. Horberg, Paul A. O’Keefe, Louis Island, Sonny Rosenthal, Andrea B. Maier

Research Collection College of Integrative Studies

Introduction: Healthy Longevity Medicine (HLM) offers a strategy to reduce the healthspan-lifespan gap, yet public perspectives remain unclear. This study refines the Healthy Longevity (HELO) framework through a qualitative exploration of public views towards lifespan, healthspan, and HLM.Methods: Individuals living in Singapore participated in semi-structured group or individual discussions to explore (a) their understanding of lifespan and healthspan, (b) motivational factors for health behaviours, and (c) their awareness of HLM. Sampling maximised variation across age, sex, and ethnicity. Data obtained through 13 discussions were analysed with a mixed, inductive-deductive approach employing the HELO framework.Results: Thirty-six participants (mean age = 49.4 …

The Importance Of Aged Care Policies In Assisting Older Adults Transition From Home To Permanent Residential Aged Care: A Focused Ethnographic Study, Stacey M. Scott, Annette J. Raynor, Julie S. Dare, Jennifer M. Grieve, Leesa N. Costello

Research outputs 2022 to 2026

Background: The Royal Commission into Aged Care Quality and Safety (RCAC) recommended a redesign of the Australian aged care system to ensure high quality care, respect, and dignity for residents. Responding to the RCAC recommendations, the Aged Care Quality Standards have been strengthened and continue to guide the delivery of safe, high quality care in Australia. This study investigated the experiences of new residents transitioning into an Australian residential care-facility, concentrating on how their experiences aligned with the core principles of the Aged Care Quality Standards. Methods: A focused ethnographic approach was used to address the aim of this study. …

Imbalances In Circulating Monocyte And High-Density Lipoprotein Cholesterol Exacerbates The Residual Risk Of Incident Myocardial Infarction Beyond Ldl-C: A Real-Life, Prospective Cohort Study, Dan Wu, Yulong Lan, Xiong Ding, Lois Balmer, Xingang Li, Wei Wang, Shouling Wu, Youren Chen

Research outputs 2022 to 2026

Background: A sustained oversupply of monocytes and markedly decreased levels of high-density lipoprotein cholesterol (HDL-C) are notable in high-risk groups with residual cardiovascular risk, despite aggressive low-density lipoprotein cholesterol (LDL-C) lowering. This study aimed to explore whether an imbalance in circulating monocyte and HDL-C levels accounts for the residual risk of incident myocardial infarction (MI) within optimal LDL-C levels. Methods: A total of 48,522 participants free of cardiovascular diseases from a real-life, prospective cohort (Kailuan study) were included. The monocyte count, HDL-C level and monocyte-to-HDL-C ratio (MHR), calculated as time-averaged cumulative and baseline values, were used as the exposures. Time-to-event …

Regional Variation And Epidemiological Insights In Malaria Underestimation In Cameroon, Sarafa A. Iyaniwura, Qing Han, Ngem Bede Yong, Ghislain Rutayisire, Agnes Adom-Konadu, Okwen Patrick Mbah, David Poumo Tchouassi, Kingsley Badu, Jude Dzevela Kong

All Peer-Reviewed Publications

Background: Despite significant global effort to control and eradicate malaria, many cases and deaths are still reported yearly. These efforts are hindered by several factors, including the severe underestimation of cases and deaths, especially in Africa. Methods: We used a mathematical model, incorporating the underestimation of cases and seasonality in mosquito biting rate, to study the malaria dynamics in Cameroon. Using a Bayesian inference framework, we calibrated our model to the monthly reported malaria cases in ten regions of Cameroon from 2019 to 2021 to quantify the underestimation of cases and estimate other important epidemiological parameters. We performed Hierarchical Clustering …

Evaluating The Role Of Covid-19 On Delay In Cancer Care And Health Disparities Of Women With Breast Cancer: A Retrospective, Multi-Site Study, Nohemi Sadule Rios, Morgan Nestingen, Mukesh Roy, Lucy Morales, Andrew Salner, Margaret Barton-Burke, Natalie Bermudez, Annmarie Mazzella, Muni Rubens, Muhammad A. Rizvi, Morgan Horton, Suresh G. Nair Md, Tania Silva Santos, Patricia Shearburn, Melissa Kratz, Morgan Hume, Kerry Kluska, Nayla Cepero, Wanli Xu, Wu Weizi, Batool Almasri

Nursing & Health Sciences Research Journal

Introduction: COVID-19 had a profound impact on cancer screening, diagnosis, and treatment worldwide. The purpose of this study was to examine the role that the COVID-19 pandemic had on delays in breast cancer screening, diagnosis, treatment, and other related variables, including cancer staging and oncology measures of performance (ECOG Performance Status), in the inpatient and ambulatory oncology settings.

Methods: This was a multi-site, interdisciplinary retrospective review study including 1,514 participants. Four cancer centers collaborated, submitting de-identified data in accordance with their policies and procedures.

Results: Our study's results showed significantly higher delays in screening mammogram appointments (p < .001) during the COVID-19 pandemic (N=142) than before the COVID-19 pandemic (N=56), with a 52% higher likelihood of canceling screening mammogram appointments during COVID-19. Our findings also revealed a statistically significant difference (p < .001) in the time from diagnosis to the first recommended treatment for scheduled initially appointments, with an increase of 18 days, suggesting delays in cancer treatment during the COVID-19 pandemic.

Discussion: Our findings …

Exploring The Lived Experience Of Nursing Faculty In Preparing For The Next Generation Nclex: A Qualitative Study, Mary Granoff, Missilia Gilbert, Marjorie Lima, Erika Nusbaum, Natalie Bermudez

Nursing & Health Sciences Research Journal

Introduction: According to the Nursing Council of State Boards of Nursing (NCSBN), more than half of all errors among new graduate registered nurses are related to a lack of clinical judgment, a critical component of nursing practice. Considering the Next Generation National Council Licensure Examination (NCLEX) focuses on clinical judgment, a greater understanding of faculty’s Next Generation NCLEX (NGN) teaching preparedness is needed. The purpose of this study was to explore nursing faculty’s lived experience preparing students for the NGN.

Methods: This was a qualitative descriptive study. Data were collected via 15-minute individual interviews. Participants were pre-licensure nursing faculty from …

Promoting Self-Reflection And Implicit Bias Awareness In Nursing: A Mixed-Method Study Advancing Practice And Fostering Healthcare Equality, Diane S. Kramer, Victoria Y. Mccue, Anshul Saxena, Jeanette B. Deniz, Nicole Burks, Patricia Russell

Nursing & Health Sciences Research Journal

Background: Implicit biases influence how nurses perceive and interact with patients and shape clinical practice. Awareness is crucial because implicit biases are difficult to detect. Our study evaluated how educational sessions impacted awareness and understanding of implicit bias. In our study, we sought to mitigate effects of these biases on patient care to promote equitable healthcare outcomes.

Methods: The research involved registered nurses from all levels employed at nine hospitals. Data were collected anonymously through voluntary participation to ensure confidentiality. A mixed-methods approach with a quasi-experimental prepost design was utilized to measure the effectiveness of the educational session. Descriptive statistics …

Retrospectively Examining The Probability Of Acute Skin Failure Among Hospitalized Patients With Hospital-Acquired Pressure Injuries, Tori C. Hatch, Jeanine M. Salamone, Pierna F. Vaughner, Natalie Bermudez

Nursing & Health Sciences Research Journal

Introduction: Acute skin failure (ASF) in hospitalized patients is a growing concern and a product of multisystem organ failure. Unlike hospital-acquired pressure injuries (HAPIs), ASF is not preventable despite prevention measures. The Skin Failure Clinical Indicator Scale (SFCIS) was recently developed to assess the probability of ASF. The purpose of this study was to retrospectively examine the probability of and factors associated with ASF in hospitalized individuals with HAPIs.

Methods: Data were collected from the electronic health records of in-patients with stage 3 or greater HAPIs over two years. Collection included demographics, comorbidities, COVID status, wound staging, injury location, SFCIS, …

Assessment Of Stroke Priority Status On Door-To-Reversal Time And Outcomes In Anticoagulant Associated Intracranial Hemorrhage, Kayla Mitzel, Jonathan Kline, Thomas J. Wolfel, Erika Dittmar, Nina Cruz, Felipe De Los Rios La Rosa, Heidi Clarke

Nursing & Health Sciences Research Journal

Background: The emergent reversal of anticoagulation in the setting of intracranial hemorrhage (ICH) is critical, and it is essential that comprehensive stroke centers adhere to the American Heart Association (AHA) metrics for door-to-reversal within the designated 90 minutes. The objective of this review is to evaluate individuals classified as stroke alert priority 1 and non-stroke alert and compare AHA metrics for door-to-reversal times and clinical outcomes when diagnosed with ICH.

Methods: Single-center observational, retrospective review that compared stroke alert priority 1 individuals to non-stroke alert individuals who were diagnosed with an ICH and taking an anticoagulant prior to admission. The …

Secretory Iga Dysfunction Underlies Poor Prognosis In Fusobacterium-Infected Colorectal Cancer, Ilseok Choi, Kyung-A Kim, Sang Cheol Kim, Donghwan Park, Ki Taek Nam, Jun Hyung Cha, Seungbyn Baek, Junha Cha, Hye-Yeong Jo, Minsun Jung, Melody Y Zeng, Irina Matei, Susan Bullman, Joong Bae Ahn, Yoon Dae Han, Han Sang Kim, Insuk Lee

Faculty, Staff and Student Publications

Fusobacterium nucleatum (Fn) is commonly enriched in colorectal cancer (CRC) and associated with poor outcomes, though its mechanisms remain unclear. Our study investigated how Fn affects the tumor microenvironment through single-cell transcriptomic analyses of 42 CRC patient tissues, comparing Fn-positive and Fn-negative tumors. We discovered that Fn impairs IgA plasma cell development and secretory IgA (sIgA) production by disrupting communication with tumor-associated macrophages. Additional experiments in germ-free mice, together with our re-analysis of a publicly available single-cell RNA-seq data set from a CRC mouse model with an intact gut microbiome–both models having been orally gavaged with Fn–jointly validated the causal …

Tumor Intrinsic Mettl5 Modulates Atf4 Translation To Prevent T Cell-Induced Ferroptosis In Ovarian Cancer, Jiakai Hou, Cheng-Wei Ju, Nicholas A Egan, Yanjun Wei, Yunfei Wang, Minghao Dang, Tianyi Zhou, Leilei Shi, Ningbo Zheng, Si Chen, Ashley M Guerrero, Xiaofang Liang, Wanfu Wu, Areej Akhtar, Chitra Dhiman, Debanwita Roy Burman, Andro E Gerges, Mason D Flores, Han Li, Li-Sheng Zhang, Marleen Kok, Xiaobo Mao, Linghua Wang, Qin Feng, Yiwen Chen, Sanghoon Lee, Daniel J Mcgrail, Nidhi Sahni, Chuan He, Amir A Jazaeri, Weiyi Peng

Faculty, Staff and Student Publications

Poor clinical responses to immune checkpoint blockade (ICB) observed in ovarian cancer (OC) highlight an unmet need to understand the mechanisms driving immune evasion in this disease. To address this, an integrative analysis is conducted by combining in vitro genome‐wide immune screens, in vivo ICB screens, and clinical data mining, and METTL5 is identified as a crucial OC‐intrinsic factor that promotes immune resistance. Immunologically “cold” OC tumors and poor responders to ICB exhibit elevated METTL5 expression. Mechanistically, knocking out (KO) METTL5 in OC disrupts ATF4 translation by altering 18S rRNA m6A levels, leading to the downregulation of SLC7A11 and SLC3A2 …

Perceived Utility Of Genetic Carrier Screening In A Diverse Patient Population, Jack A Colleran, Meagan Choates, Syed Hashmi, Brittanie Shelton, Aranza Gonzalez Cendejas, Angela Haynes Burgess, Blair K Stevens

Faculty, Staff and Student Publications

Current reproductive guidelines call for offering expanded carrier screening (ECS) for genetic conditions. Currently available panels can include screening for carrier status of tens to hundreds of autosomal recessive and/or X-linked conditions. Clinical utility is based on alterations to reproductive decision-making, but study cohorts supporting the utility of ECS largely consist of individuals of European ancestry who are highly educated, of high income, and who often receive preconception counseling. There is a lack of research on the views of patients from diverse backgrounds. Therefore, we aimed to assess and compare perceptions of the utility of ECS and targeted carrier screening …

Kras Inhibition Activates An Actionable Cd24 "Do Not Eat Me" Signal In Pancreatic Cancer, Yongkun Wei, Minghui Liu, Er-Yen Yen, Jun Yao, Zhenzhen Xun, Phuoc T Nguyen, Xiaofei Wang, Zecheng Yang, Abdelrahman Yousef, Dean Pan, Yanqing Jin, Ching-Fei Li, Madelaine S Theardy, Jangho Park, Yiming Cai, Mitsunobu Takeda, Matthew Vasquez, Elizabeth M Park, David H Peng, Yong Zhou, Hong Zhao, Timothy P Heffernan, Andrea Viale, Huamin Wang, Stephanie S Watowich, Han Liang, Dan Zhao, Ronald A Depinho, Wantong Yao, Haoqiang Ying

Faculty, Staff and Student Publications

KRASG12C inhibitors (G12Ci) have produced encouraging, albeit modest and transient, clinical benefit in pancreatic ductal adenocarcinoma (PDAC). Identifying and targeting resistance mechanisms to G12Ci treatment is therefore crucial. To better understand the function of KRASG12C and possible G12Ci bypass mechanisms, we developed an autochthonous KRASG12C-driven PDAC model. Compared to the classical KRASG12D PDAC model, the G12C model exhibits slower tumor growth, yet similar histopathological and molecular features. Aligned with clinical experience, G12Ci treatment of KRASG12C tumors produced modest impact despite stimulating a ‘hot’ tumor immune microenvironment. Immunoprofiling revealed that CD24, a ‘don’t eat me’ signal, is significantly upregulated on cancer …

Clinical Outcomes Of Adult Patients With Newly Diagnosed Mixed Phenotype Acute Leukemia, Hannah Goulart, Farhad Ravandi, Nicholas J Short, Nitin Jain, Naval Daver, Tapan M Kadia, Courtney Dinardo, Gautam Borthakur, Koichi Takahashi, Naveen Pemmaraju, Fadi G Haddad, Guillermo Montalban Bravo, Yesid Alvarado, Ghayas C Issa, Alex Bataller, Sherry Pierce, Sanam Loghavi, Guilin Tang, Sa A Wang, Beenu Thakral, Elizabeth Shpall, Richard Champlin, Issa Khouri, Partow Kebriaei, Guillermo Garcia-Manero, Koji Sasaki, Elias J Jabbour, Jayastu Senapati

Faculty, Staff and Student Publications

Purpose: Mixed phenotype acute leukemia (MPAL) is a rare clinical entity with historically poor outcomes.

Methods: We conducted a retrospective analysis of adults 18 years and older with newly diagnosed B-cell (B/M) or T-cell/myeloid (T/M) MPAL treated at our institution between 2017 and 2024.

Results: We identified 42 patients (median age 70 years); 20 (48%) had B/M MPAL, and 22 (52%) had T/M MPAL; 57% of patients had adverse risk cytogenetics, and 41% had a TP53 mutation. Sixty-two percent of patients were treated with a hybrid regimen, and 45% of patients received intensive therapy. A composite complete remission (CRc; CR …