Medicine and Health Sciences Commons^™

Complicated Third Sternotomy For Left Ventricular Outflow Tract Obstruction Secondary To Mitral Valve Prosthesis Strut, Rishab Agarwal, Alleabelle Bradshaw, Michelle Carvajal, Jennifer S. Lawton

Department of Medicine Faculty Publications

Introduction: LVOT obstruction after surgical bioprosthetic MVP placement is uncommon and the influence of the MVP strut width has seldom been examined.

Case presentation: A 74-year-old female presented with palpitations, chest pain, and shortness of breath. She had MVR with 31-mm bioprosthetic valve 2 years prior. TEE confirmed LVOT obstruction secondary to a MVP strut, causing a peak gradient of 55 mmHg. The redo operation was complicated by iatrogenic Type A aortic dissection. The patient was immediately cooled for DHCA with RCP and ascending aortic replacement was performed. MVR was then performed with a prosthesis with narrower strut width. Recovery …

Enlarging Fingertip Nodule Mimicking A Pyogenic Granuloma In A Man In His 60'S, Avery H. Seward, Jocelyn H. Larocque, Stephen M. Hughes

Department of Medicine Faculty Publications

[Case presentation] A man in his 60's with a history of hypertension, hyperlipidemia, and resected colon cancer in remission presented with a 4-month history of an enlarging nodule on the right fourth fingertip. The patient recalled having a splinter removed from the same site a few weeks prior to the development of the lesion. The lesion was initially diagnosed by an orthopaedist as a pyogenic granuloma (Figure 1a), and the patient was advised to apply table salt to the area several times daily. However, the lesion continued to enlarge over 3 months with occasional bleeding and mild tenderness. Physical examination …

Insurance Disparities In Hidradenitis Suppurativa: A Comprehensive Review Of Demographics, Outcomes, And Access To Care, Alim Osman, Alexandra R. Nigro, Michael C. Povelaitis, Marc Z. Handler

Department of Medicine Faculty Publications

Background: Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition that disproportionately affects women, African Americans, and individuals of biracial descent. It is associated with substantial physical and psychiatric morbidity, reducing quality of life.

Objective: This review analyzed disparities in treatment outcomes, disease progression, and healthcare access among HS patients based on insurance type.

Methods: Using PRISMA guidelines, a comprehensive literature search identified 7 studies meeting inclusion criteria. Owing to data heterogeneity, studies were qualitatively analyzed.

Results: Findings consistently demonstrated that Medicaid patients experienced worse outcomes than those with private insurance or Medicare. Medicaid patients had higher rates of comorbid …

Dietary Intake Of Micro- And Nanoplastics: Potential Adverse Gi Effects On Microbiome, Inflammation, And Neoplasia, Michael Saadeh, Gordon Hong, Sana Rabeeah, Priyata Dutta, Edward C. Oldfield, Iv, David A. Johnson

Department of Medicine Faculty Publications

Micro- and nanoplastics (MNPs) are pervasive in food-contact environments and the human diet, positioning the gastrointestinal (GI) tract as the primary portal of entry and a plausible site of early biological effects. Human exposure is supported by detection of microplastics in stool and colon tissue, and emerging clinical studies report associations between fecal microplastic burden and GI disease states, including inflammatory bowel disease (IBD) and colorectal cancer (CRC). Preclinical studies provide mechanistic plausibility, reporting that ingested MNPs can modulate microbial ecology, alter mucus membrane integrity, increase intestinal permeability through changes in cellular tight junction biology, and induce inflammatory gene expression. …

Open Transatrial Valve-In-Mitral Annular Calcification Mitral Valve Replacement With An Autologous Anterior Leaflet Sealing Skirt, Omar Saleh, Nicholas Valle, Rishab Agarwal, Israa Saleh, Joshua Dolsen, Connor Mckechnie, Dhruvi Patel, Deepak R. Talreja, Matthew R. Summers, Christopher M. Sciortino

Department of Medicine Faculty Publications

[Central Message] In patients undergoing ViMAC, surgical fixation of the native anterior mitral leaflet to a BEV cuff creates an autologous seal, reducing risk of paravalvular leak and neo-LVOT obstruction.

Micro- And Nanoplastics: A Paradigm Shift In The Pathogenesis Of Inflammatory Bowel Disease, Michael Saadeh, Priyata Dutta, Gordon Hong, Edward Oldfield, David A. Johnson

Department of Medicine Faculty Publications

Micro- and nanoplastics (MNPs) are pervasive environmental contaminants with growing recognition as potential contributors to human disease. Widespread human exposure occurs primarily through ingestion of contaminated food and water, and MNPs have been detected in multiple human tissues, including the gastrointestinal tract. Experimental evidence provides a plausible biological basis for disease associations, including impairment of intestinal barrier integrity, activation of mucosal immune pathways, and alteration of gut microbial communities caused by MNP exposure. Although human data remain limited, early studies demonstrate MNP detection in stool and suggest potential correlations with inflammatory biomarkers such as fecal calprotectin. These findings, together with …

Seasonal And Geographic Patterns Of Gastroschisis In Canada: Protective Effect Of Periconceptional Sunlight Exposure, Shiliang Liu, Shin Jie Yong, Dunjin Chen, Gavin C. Hughes, Claude L. Hughes

Department of Medicine Faculty Publications

Background: Gastroschisis is a right-sided, full-thickness defect with extra-amnionic herniation of abdominal contents directly into the amniotic cavity. The causes of gastroschisis remain obscure. We hypothesized that limited periconceptional sunlight exposure might lead to insufficient vitamin D during fetal development and play a role in gastroschisis etiology.

Methods: We conducted a population-based cohort study of infants conceived in Canada between April 2006 and March 2020. We used winter months (i.e., November and December) and northern geographic latitudes as indicators of insufficient sunlight exposure, while summer months (July and August) and southern geographic latitudes were considered as reference. We examined the …

Frequent Emergency Department Utilization And Syphilis Case Profiles In The Sentara Healthcare System: A Retrospective Cross-Sectional Analysis In Hampton Roads, Martina Zamponi, Grace M. Tillotson, Chandler F. Knox, Mackenzie Tardif-Kunk, Thomas R. Campbell, Peter A. Mollica

Department of Medicine Faculty Publications

Background

Syphilis rates have increased substantially nationwide, disproportionately affecting marginalized populations and individuals with differing patterns of healthcare utilization. The Hampton Roads region of Virginia and North Carolina includes multiple jurisdictions with syphilis rates above the CDC screening threshold, with 7 of its 9 independent cities meeting this criterion. However, no prior study has examined the relationship between emergency department (ED) utilization patterns and documented syphilis diagnoses in this region.

Methods

A retrospective cross-sectional analysis of the Sentara Healthcare network was conducted using aggregate data from the TriNetX platform. Patients diagnosed with syphilis between 2023 and 2024 were stratified by …

International Myositis Assessment And Clinical Studies Guidelines For Risk-Based Cancer Screening: An External Validation In Patients With Dermatomyositis Seen At A Metropolitan Academic Center, Isabel Silva, Jasper Dayanan, Alexandra Nigro, Capriana Jiang, Ma Georgina Erfe, Trixie Rivera, Saakshi Khattri

Department of Medicine Faculty Publications

Objective

Dermatomyositis (DM) is an idiopathic inflammatory myopathy (IIM) characterized by muscle weakness, skin findings, and increased malignancy risk. Cancer risk is greatest in the three years before or after DM onset, termed paraneoplastic DM. The International Myositis Assessment and Clinical Studies Group (IMACS) set forth evidence-based guidelines for risk stratification and cancer screenings for newly diagnosed patients with IIM. '

Methods

We retrospectively reviewed the records of 413 patients with a known diagnosis of DM or clinically amyopathic DM at the Mount Sinai Health System (2019-2024). Demographics, clinical findings, laboratory results, myositis autoantibody panels, and cancer screening or diagnosis …

Platypnea-Orthodeoxia Syndrome Caused By A Patent Foramen Ovale And Interatrial Septal Aneurysm: A Case Report, Abes A. Bautista Neughebauer, Raymond L. Benza, Deepak Talreja

Department of Medicine Faculty Publications

Platypnea-orthodeoxia syndrome (POS) is a rare condition characterized by positional hypoxemia, often due to right-to-left shunting across a patent foramen ovale (PFO) despite normal right-sided pressures. Early recognition is essential as symptoms may be subtle and imaging is often unrevealing. A 78-year-old female patient with a known PFO presented with one week of lower abdominal pain and mild exertional dyspnea without chest pain. She was profoundly hypoxic to 76% on room air, with improvement when supine and worsening when upright. Initial labs were unremarkable, and arterial blood gas revealed primary respiratory alkalosis with severe hypoxemia. Despite unremarkable chest radiography, CT …

When Unilateral Leg Swelling Is Not Deep Vein Thrombosis: A Case Of Disseminated Kaposi Sarcoma Revealing Advanced Human Immunodeficiency Virus, Ahmed Ismail, Zachary Wilson, Thomas Currow, Michael Dileonardo, Carsten Kirby

Department of Medicine Faculty Publications

Kaposi sarcoma (KS) is an acquired immunodeficiency syndrome (AIDS)-defining malignancy that can involve the skin, lymph nodes, and visceral organs in patients with advanced human immunodeficiency virus (HIV). We report the case of a 35-year-old man with no known prior medical history who presented to the charity care clinic complaining of recurrent thrush and two weeks of progressive right lower extremity swelling. His physical examination revealed painful, pruritic violaceous papules and plaques over the proximal right thigh that had been present for one week. He was referred to the emergency department (ED) for further workup. Venous duplex ultrasonography was negative …

Balloon Aortic Valvuloplasty As A Bridge Therapy In Acute Valve Syndrome: A Narrative Review Of Evidence Gaps And Future Directions, Omar Saleh, Omar Jafar, Nicholas Valle, Shirish Yasa, Saleh Mostafa, Raymond L. Benza, Deepak R. Talreja, Benjamin D. Peterson, Matthew R. Summers

Department of Medicine Faculty Publications

Acute valve syndrome (AVS) represents a high-acuity, decompensated presentation of severe aortic stenosis (AS), often manifesting as acute heart failure, cardiogenic shock, or cardiac arrest. Transcatheter aortic valve replacement (TAVR) remains the only durable therapy for severe AS in patients with prohibitive surgical risk, yet AVS patients may be too unstable for standard preprocedural planning. Balloon aortic valvuloplasty (BAV) has re-emerged as a bridge strategy that can provide rapid hemodynamic stabilization and permit subsequent valve replacement. Registry analyses report lower mortality in emergent TAVR compared with BAV, but these comparisons are confounded by procedural indication and unmatched AS severity. Smaller …

Regional Pain Is Associated With Functional Performance In People With Parkinson's Disease, Ryan P. Duncan, Monica R. Hendricksen, Luke Ekdahl, Kevin Smaller, Benjamin Friedman, Miriam R. Rafferty

Department of Medicine Faculty Publications

Background and Purpose:

Little is known about how pain influences physical function in people with mild Parkinson disease (PwPD). The purpose of this study was to investigate the association between physical function and pain presence, location, and intensity in PwPD who were evaluated in an early physical therapy program.

Methods:

Retrospective cross-sectional analysis of electronic medical records from patients with PD evaluated at a single center (2016-2023). Pain presence, location, and intensity (0-10 scale) were recorded at the initial physical therapy evaluation. Functional outcomes included 5-time sit-to-stand, 10-meter walk test, 6-minute walk test, timed up and go, mini-BESTest, and Functional …

An Analysis Of Heart Failure Among Cancer Patients In The United States Between 1999 And 2020, Abes A. Bautista Neughebauer, Deepak Talreja, Apostolos Gaitanidis

Department of Medicine Faculty Publications

Background: Cancer and heart failure (HF) are highly prevalent in the population and can co-exist, due to shared risk factors and an aging population. The HF-related mortality burden in cancer patients across in the United States (US) remains poorly understood. The goal of this study is to evaluate the patterns of HF-related deaths among cancer patients in the United States.

Methods: A retrospective analysis was performed using the Centers for Disease Control and Prevention (CDC) WONDER Multiple Cause of Death database between years 1999 and 2020. HF-related deaths were defined as death certificates listing HF as a contributing cause of …

All-Inside Arthroscopic Technique For Repairing Radial Meniscus Tears At The Anterior Horn-Body Junction, Brandon Omari Boyd, Robert M. Walker, Harrison A. Volaski, Ferdinand J. Chan

Department of Medicine Faculty Publications

Radial meniscus tears are a common tear pattern that, if left untreated, can ultimately lead to accelerated degenerative changes and disability. There is well-established evidence that supports meniscal preservation in patients with radial meniscus tears. Various surgical techniques are used to repair radial tears, including inside-out, outside-in, and all-inside methods. Self-retrieving all-inside devices are a safe option when repairing radial tears. However, radial tears at the junction of the anterior horn and body present a unique surgical challenge, as surgeons may have difficulty maneuvering the jaws of the self-retrieving suture device around the anterior limb of the meniscal tear. We …

American Board Of Emergency Medicine Report On Residency And Fellowship Training Information (2025-2026), Yvette Calderon, Barry Knapp, Felix K. Ankel, Ted Gaeta, Lynne Holden, Derek Linklater, Zeno St. Cyr Ii, Ernest Wang, Melissa Barton, Andrews R. Trotter, Kevin Joldersma, Robert G. Purosky, Michael Gottlieb

Department of Medicine Faculty Publications

The American Board of Emergency Medicine gathers extensive background information on Accreditation Council for Graduate Medical Education-accredited emergency medicine residency and fellowship programs, as well as the residents and fellows training in those programs. We present the 2026 annual report on the status of physicians training in Accreditation Council for Graduate Medical Education-accredited emergency medicine training programs in the United States.

Metabolic Dysfunction-Associated Steatotic Liver Disease And Circadian Rhythm: Current Understanding And Implications For Future Therapeutic Interventions, William K. Slover, Ashley V. Huang, Steve M. D'Souza, Edward C. Oldfield, David A. Johnson

Department of Medicine Faculty Publications

Metabolic dysfunction-associated steatotic liver disease (MASLD), defined by the American Association for the Study of Liver Diseases as hepatic steatosis with at least one cardiometabolic risk factor, affects approximately 30-40% of adults worldwide. This condition may progress to fibrosis, cirrhosis, and hepatocellular carcinoma. The rising prevalence, alongside obesity and type 2 diabetes, underscores the need for early risk stratification and integrated therapeutic strategies. Circadian homeostasis, orchestrated by the suprachiasmatic nucleus and core clock gene feedback loops, synchronizes hepatic metabolic pathways with environmental light-dark cycles. The objective of this review is to evaluate the role of circadian disruption and metabolic dysfunction …

Dual Clinical Presentation Of A Birthmark: A Quiz, Avery H. Seward, Jacqueline E. Leyrer, Sarah H. Carlock

Department of Medicine Faculty Publications

[Introduction] A man in his early 30s presented with a longstanding birthmark on the lift thigh that was first noticed at age 12. As a teenager, the lesion was treated with a CO2 laser at an outside institution; however, the lesion continued to slowly enlarge over the past several years. The patient reported recurrent irritation and swelling from a construction safety harness with occasional bleeding and frequent bruising. Recently, the area became inflamed, prompting an ER visit, where the patient was evaluated for cellulitis, underwent a normal ultrasound and was placed on cephalexin 500 gm twice daily for 10 days.

Microplastics, Nanoplastics, And Obesity: Current Evidence And Biological Mechanisms, Maram Albandak, Sanam Rabeeah, Ahmad Mahdi Zahidi, David A. Johnson

Department of Medicine Faculty Publications

Obesity is a rapidly growing global health concern. The pathogenesis is complex and cannot be fully explained by lifestyle factors alone. The increasing attention towards this concern has finally been directed towards environmental contributors which may influence metabolic regulation. Microplastics and nano-plastics (MNPs) are ubiquitous environmental pollutants that have recently been detected in food, drinking water, air, and human biological samples, raising concerns about their potential role in metabolic disorders, including obesity. Chronic exposure to MNPs may interfere with metabolic homeostasis through multiple biological pathways. Emerging evidence, including both experimental and animal studies, reports alterations in lipid metabolism, body weight, …

Differential Impact Of Catheter Ablation Across Heart Failure Phenotypes In Atrial Fibrillation: A Grade Assessed Systematic Review And Meta-Analysis, Faizan Ahmed, Ayesha Zulfiqar, Mohamed Nasser Elshabrawi, Omama Ayatullah, Sheraz Qasim, Hira Sarfraz, Haris Bin Tahir, Faseeh Haider, Maryam Fatima, Syed Ahmed Ali Shah, Ameema Kaleem, Muhammad Taha Altaf, Muhammad Bin Aslam Zahid, Nazila Dalir, Manal Zia, Amro Taha, Abdul Qadeer, Bhavin Patel, Khurram Arshad

Department of Medicine Faculty Publications

Introduction: Atrial fibrillation (AF) is highly prevalent in heart failure (HF) and is linked to increased mortality and hospitalization in both preserved (HFpEF) and reduced ejection fraction (HFrEF). Catheter ablation (CA) has emerged as an effective rhythm-control strategy beyond medical therapy (MT), but phenotype-specific differences remain unclear. We compared the efficacy and safety of CA versus MT in AF with HFpEF or HFrEF.

Methods: PubMed, Embase, Scopus, and Cochrane databases were searched through December 2025. Random-effects meta-analyses were conducted in R (version 4.5.3), reporting risk ratios (RRs) and mean differences (MDs) with 95% confidence intervals (CIs).

Results: Fifteen studies involving …

Defining Clinically Meaningful Within-Patient Changes In Heart Failure: Jacc Heart Failure Position Statement, Amin Yehya, Rebecca Hahn, Barry Borlaug, Victoria Delgado, Andrew Ambrosy, Ross Arena, Nosheen Reza, Gregory Lewis, Natalie Tapaskar, Salvatore Carbone, Cynthia Chauhan, Mitchell A. Psotka, Norman Stockbridge, James Januzzi, Javed Butler, Jennifer Cowger, Biykem Bozkurt, John Spertus

Department of Medicine Faculty Publications

Heart failure (HF) clinical trials increasingly rely on diverse endpoints beyond mortality, including hospitalizations, imaging, hemodynamic status, biomarkers, functional capacity, and patient-reported outcomes. Although statistically significant differences between treatment groups are commonly reported, interpreting whether these changes are clinically meaningful for individual patients remains challenging. This JACC: Heart Failure position statement proposes a pragmatic framework for defining clinically meaningful within-patient change across commonly used HF outcomes by integrating measurement variability, prognostic associations, and patient-anchored evidence where available. Relative and absolute risk reductions should both inform interpretation of clinical events, while imaging, hemodynamic, biomarker, and functional measures require changes exceeding measurement …

The Murdock Daily Reilly (M.D.R.) Scale: A Pressure Injury Risk Assessment Scale For Critical Care, Ann Murdock, Andrea Daily, Deby Reilly, Shih-Ting Chiu, Melissa Robinson

Publications 2026-present

No abstract provided.

Priorities For Multimorbidity Management And Research In Cancer: A Delphi Study Of Australian Cancer Survivors, Clinicians, And Researchers, Rebecca L. Venchiarutti, Haryana Dhillon, Carolyn Ee, Nicolas H. Hart, Michael Jefford, Bogda Koczwara

Research outputs 2022 to 2026

Purpose: Multimorbidity is common in people with cancer and associated with increased complexity of care, symptoms, mortality, and costs. This study aimed to identify priorities for care and research for cancer survivors with multimorbidity. Methods: A Delphi consensus process was conducted. Elements of care and research were based on Australia’s National Strategic Framework for Chronic Conditions, a literature review, and expert input. In Round 1, health professionals, cancer survivors, and researchers rated the importance of 18 principles, 9 enablers, and 4 objectives. In Round 2, new elements were rated and all elements were ranked. Results: In Round 1, all elements …

Facilitators To The Implementation Of Exercise Into Cancer Care: A Systematic Review, Georgia L. White, Mary A. Kennedy, Brent J. Cunningham, Riley Dunn, Jason Martin, Meegan Walker, Craig T. Wallington-Gates, Hattie Wright, Bryan Chan, Grace L. Rose

Research outputs 2022 to 2026

Purpose: Although governing bodies urge the importance of integrating exercise into routine cancer care, facilitators to implementation have not been systematically identified and collated. This review aimed to summarise facilitators to implement exercise services within real-world settings. Methods: A systematic review of qualitative, quantitative, and mixed-method studies was conducted (three databases, 13th September 2024). Reports were included if they documented the implementation of co-located exercise services (delivered onsite within cancer centres) or referral pathways to external exercise services from cancer centres. The updated Consolidated Framework for Implementation Research (CFIR 2.0) was used to code and synthesise facilitators. Results: Of 8544 …

Compassionate Communities, Māori Ageing And End-Of-Life: A Systematic Review, Melissa Carey, Kathleen Mason, Levi Fox, Tess Moeke-Maxwell, Merryn Gott

Research outputs 2022 to 2026

Background: Māori people in Aotearoa New Zealand and Australia experience significant healthcare inequity as they age and towards the end of their lives. Compassionate community approaches to ageing and end-of-life care are increasing in popularity throughout the world. However, this approach has arisen from Eurocentric knowledge systems and not from First Nations people and their communities. Objectives: This research aimed to gain insight into what the Compassionate Communities approach means for First Nations people and identify implications for Māori in Aotearoa New Zealand and Australia. A systematic literature review explored the intersection of Compassionate Communities and First Nations peoples’ perspectives …

Rapid Decentralized Prostate Cancer Risk Stratification By Portable Liquid Biopsy Analysis Within A Clinical Biosensor Validation Framework, Kevin M. Koo, Grant Phillips, Sriganesh Srihari, Áine Farrell, Binny Jaradi, Kira J. Fitzpatrick, John W. Yaxley, Hemamali Samaratunga, Paul N. Mainwaring, Ke-Lin Ru, Darren J. Korbie, Scott A. Tomlins, Matthew J. Roberts, Robert A. Gardiner, Matt Trau

Research outputs 2022 to 2026

Clinical liquid biopsy (e.g., blood or urine) specimens, as a minimally invasive source of crucial molecular information, continue to grow in importance for efficacious targeted cancer treatment. Yet, current molecular profiling technologies are still confined to centralized laboratory testing, which escalates testing costs, result turnaround time, and patient anxiety. Crucially, there is also a scarcity of purposeful clinical validation studies to rigorously evaluate emerging liquid biopsy technologies from research settings to facilitate clinical translation. Here, we report liquid biopsy biosensor advancements in achieving rapid, accurate, and decentralized molecular profiling of a clinically accredited prostate cancer (PCa) urinary circulating RNA biomarker …

Triglyceride Glucose Index And Modified Triglyceride Glucose Indices Are Instrumental To Optimize 3p Medical Management For Postpartum Cardiovascular Disease, Dong Lin, Haoxian Tang, Enoch Odame Anto, Yueran Zhou, Shenglan Zhang, Xiulian Deng, Cuihong Tian, Weijie Cao, Zhuoqiao He, Zhisheng Chen, Pengxiang Ying, Yequn Chen, Xuerui Tan

Research outputs 2022 to 2026

Background: Postpartum cardiovascular disease (CVD) following hypertensive disorders of pregnancy (HDP) involves multifactorial mechanisms linking metabolic susceptibility to vascular damage. Identifying predictive biomarkers and modifiable risk factors is crucial for early stratification in the context of predictive, preventive, and personalized medicine (PPPM). We aimed to investigate the association of triglyceride-glucose (TyG) indices with incident CVD in women with prior HDP and to assess the causal relationship using Bayesian weighted Mendelian randomization (BWMR) analysis, with a focus on the implications for PPPM strategies in postpartum management. Methods: In this longitudinal cohort study, 1,642 women with prior HDP from the UK Biobank …

Dose–Response Association Between Systemic And Dermatologic Glucocorticoid Use And Type 2 Diabetes Mellitus: A Nationwide Case–Control Study, David Vadsholt, Annika V. Kvist, Chano Sandiramoorthy, Joshua R. Lewis, Peter Vestergaard, Johan Røikjer, Nicklas H. Rasmussen

Research outputs 2022 to 2026

Aims: To investigate the association and dose–response between systemic and topical glucocorticoids and odds of Type 2 diabetes mellitus. Materials and Methods: We conducted a nationwide case–control study using Danish registry data from 2013 to 2021. People aged 40 years or older with incident type 2 diabetes mellitus (n = 149 113) were matched 1:3 with controls (n = 447 339) by age, sex and weighted Charlson Comorbidity Index. Glucocorticoid exposure was defined as ≥ 1 prescription within 1 year before the date of diagnosis and ≥ 2 within 3 years and classified as systemic or topical. Conditional logistic regression …

Gwas Meta-Analysis Provides New Insights Into Uveal Melanoma Risk, Matthew D’Mellow, Huanwei Wang, Jane M. Palmer, Kari Hemminki, Colleen M. Cebulla, Aaron B. Beasley, Nikolaos E. Bechrakis, Antonia L. Pritchard, Karin W. Wadt, Peter A. Johansson, Lenha Mobuchon, Samantha Barlow, Kelly Brooks, Timothy Beckman, Catherine M. Olsen, Sunil K. Warrier, Lindsey Byrne, Helen Kalirai, Colette Mustard, Nathan Ingold, Asta Försti, Timothy Isaacs

Research outputs 2022 to 2026

Objective: The aim of this research is to identify germline genetic variants that predispose to uveal melanoma (UM) using data from nine studies involving 5839 individuals with UM (3853 novel) and 349,863 healthy controls. Methods: Five novel UM genome-wide association studies (GWAS) were performed and included for meta-analysis with four previously published UM GWAS. A fixed-effects inverse-variance weighted (IVW) meta-analysis was performed by combining data from these nine UM case-control cohorts. A follow-up transcriptome-wide association study (TWAS) was conducted to identify candidate target genes at UM risk loci. Genetic correlations with melanoma-related phenotypes were measured to elucidate UM’s genetic architecture. …

Cancer Survivor Preferences For Breast Cancer Follow-Up Care: A Discrete Choice Experiment, Sameera Senanayake, Sanjeewa Kularatna, Fiona Crawford-Williams, David Brain, Michelle Allen, Ruvini M. Hettiarachchi, Nicolas H. Hart, Bogda Koczwara, Carolyn Ee, Raymond J. Chan

Research outputs 2022 to 2026

Purpose: To identify the key attributes of breast cancer follow-up care models preferred by cancer survivors in Australia. Methods: A discrete choice experiment (DCE) was conducted to elicit preferences for attributes of breast cancer follow-up care. Respondents were presented with two hypothetical scenarios, known as choice sets, and asked to select a preference. Respondents were individuals living in Australia who were diagnosed with breast cancer within the past five years prior to survey completion and were recruited through the Breast Cancer Network of Australia and other community or consumer networks. Latent class modelling (LCM) approach under a random utility framework …