Diagnosis Commons^™

Bridging Data Gaps In Retinal Imaging: From Structural Domain Adaptation To Topology-Aware Synthesis, Gözde Merve Demirci

Dissertations, Theses, and Capstone Projects

Comprehensive visualization of the retina is essential for diagnosing and monitoring blinding diseases such as Diabetic Retinopathy and Retinopathy of Prematurity (ROP), where pathological changes often extend beyond a single field of view. Despite significant advances in automated retinal image analysis, clinical deployment remains limited by two fundamental data gaps: a structural learning gap, arising from scarce expert annotations and poor generalization across imaging domains, and a spatial coverage gap, caused by the difficulty of acquiring multi-view retinal images in fragile populations. Although these challenges are often addressed independently, this dissertation argues that they are tightly coupled: accurate, …

Valvular Heart Failure Is A Distinct Heart Transplant Phenotype With Comparable Adjusted Survival To Other Heart Failure Etiologies, Devon Kelley, Varun Kathawate, Joyce Ho, Andrew Belec, Takahiro Tashima, Kazuhiro Ueno, Jessica Dominic, Pavan Atluri

Division of Cardiology Faculty Papers

PURPOSE: Valvular heart failure (VHF) accounts for 1-5% of heart transplant listings. Comparative outcomes relative to other heart failure etiologies remain poorly characterized. This study defines the VHF phenotype and compares waitlist and transplant outcomes to other heart failure recipients.

METHODS: This retrospective cohort study uses the UNOS thoracic transplant database to analyze adult, first-time, heart-only listings with a diagnosis of heart disease. Patients were grouped by diagnosis as VHF or non-VHF. The primary outcome was waitlist events; post-transplant survival and outcomes were secondary analyses. Subgroup analysis was performed in the post-2018 allocation era.

RESULTS: VHF recipients were older (55.3 …

Machine Learning For Functional Outcome Prediction After Vestibular Schwannoma Surgery: A Systematic Review And Diagnostic Test Accuracy Meta-Analysis, Shiva Nischal, Shaan Patel, Musa China, Kush Kale, Yi Hein Chai, Santosh Guru, William Muirhead, Patrick Grover

Department of Neurosurgery Faculty Papers

PURPOSE: Machine learning (ML) models have been increasingly applied to predict postoperative facial nerve dysfunction and hearing preservation after vestibular schwannoma (VS) surgery. However, reported performance varies substantially, and the overall diagnostic accuracy and clinical reliability of these models remain uncertain. We conducted a systematic review and diagnostic test accuracy meta-analysis to characterise the current state and methodological readiness of ML-based prediction of these outcomes.

METHODS: PubMed, Embase, and CENTRAL were searched from inception to February 2026. Studies evaluating ML-based prediction of facial nerve function or hearing preservation following VS surgery were included. Diagnostic performance metrics were pooled using random-effects …

Remarkable Seizure Reduction With Trofinetide Treatment In An Adult With Rett Syndrome: A Case Report, Semihan Adegbite, Pooneh Memar Ardestani, Maromi Nei

Department of Neurology Faculty Papers

No abstract provided.

Clinical Utility Of An Fda-Authorized Artificial Intelligence Imaging Platform In Interstitial Lung Disease Diagnosis, Arjun Prakash Tambe, Ryan Boente, Gautam George, Fayez Kheir, Omid Tahamtani Omran, Kavitha Selvan

Division of Pulmonary, Allergy, and Critical Care Medicine Faculty Papers

Background/Objectives: The diagnosis of interstitial lung disease (ILD) is challenging and frequently delayed. Clinically accessible and minimally invasive diagnostic tools are needed to expedite the diagnosis of ILD while minimizing risk to patients. Fibresolve is an imaging artificial intelligence (AI) tool recently approved by the Food and Drug Administration (FDA) for use in ILD diagnosis and made available to clinicians. The objective of this study was to describe its utility in clinical practice. Methods: We conducted a prospective, observational study of patients across the United States (US) in whom Fibresolve was utilized during routine clinical practice between July 2024 and …

Metastatic Large Cell Neuroendocrine Carcinoma: A Rare Cause Of Hypopituitarism, Smriti Nair, Taskeen Ahmed, Jessica Watari

Division of Internal Medicine Faculty Papers & Presentations

Pituitary metastases from pulmonary large cell neuroendocrine carcinoma (LCNEC) are exceedingly rare but should be considered in patients presenting with arginine vasopressin deficiency and panhypopituitarism in the context of known or suspected metastatic lung cancer. Early recognition and prompt initiation of hormonal replacement therapy are essential to prevent life-threatening endocrine crises and to improve symptom burden. We describe a case of a 43-year-old male who presented with dyspnea, weight loss, and weakness who was found to have metastatic LCNEC involving the liver. Endocrine evaluation revealed central hypothyroidism, central adrenal insufficiency, and later arginine vasopressin deficiency manifested by polyuria and hypernatremia. …

Cervical Cancer Screening Coverage And Associated Factors Among Women Aged 25-59 In Eswatini: Insights From The 2021 Population-Based Hiv Impact Assessment (Phia), Abenezer Melaku Tafese, Bikiltu Dirbaba, Meseker Fentie, Charnita Zeigler-Johnson

College of Population Health Faculty Papers

BACKGROUND: Cervical cancer is the most common cancer and the leading cause of cancer mortality among women in Eswatini, which reported the highest cervical cancer incidence and mortality rates globally in 2022. However, recent nationally representative published data on cervical cancer screening coverage in Eswatini remain limited. This study aimed to estimate cervical cancer screening coverage and identify factors associated with screening uptake among women aged 25-59 years in Eswatini.

METHOD: Data were drawn from the 2021 Eswatini Population-based HIV Impact Assessment (PHIA), a nationally representative cross-sectional household survey. Survey-weighted bivariable and multivariable logistic regression analyses were conducted to identify …

Premature Ventricular Contractions As A Result Of Subacute Myocarditis In A Professional Football Player, Charlotte Pirquet, Daniel Underberg, Brian Osler, Derek Schwabe-Warf, David Shipon

Department of Medicine Faculty Papers

BACKGROUND: Return-to-play (RTP) decisions for professional athletes with arrhythmias are challenging, particularly when the diagnosis is uncertain.

CASE SUMMARY: A 33-year-old professional football player presented for RTP evaluation of premature ventricular contractions (PVCs) and atypical chest pain. Work-up was significant for fragmented R waves and PVCs on electrocardiogram as well as late gadolinium enhancement on cardiac magnetic resonance imaging. Positron emission tomography scan was normal. These findings suggested possible subacute myocarditis. He elected to rest for 2 to 3 months and was treated with guideline-directed medical therapy. Risk stratification highlighted increased risks associated with late gadolinium enhancement and incomplete genetic …

Llm-As-A-Judge For Infection Prevention And Control And Antimicrobial Resistance Impact: Comparing Three Main Llms Vs. Human Experts' Assessment, Marcello Di Pumpo, Leonardo Villani, Maria Rosaria Gualano, Danilo Buonsenso, Francesca Raffaelli, Daniele Donà, Patrizia Laurenti, Vittorio Maio, Stefania Boccia, Walter Ricciardi

College of Population Health Faculty Papers

BACKGROUND: Large language models (LLMs) are increasingly used to generate health information, yet their reliability as evaluators remains unclear. This study investigated the feasibility of an LLM-as-a-judge methodology in the context of infection prevention and antimicrobial resistance (AMR), comparing automated ratings with human expert benchmarks.

METHODS: We performed a secondary analysis of an expert-annotated dataset of health messages. Three leading LLMs (ChatGPT, Claude, Gemini) independently evaluated the same messages using an adapted DISCERN tool across five domains: information reliability, quality, AMR impact, persuasiveness, and overall score. We utilized descriptive statistics, intra-rater reliability tests, and mixed-effects ordinal regression to analyze divergence …

Slc Transporter-Mediated Functional Imaging In Cancer Diagnosis, Lumeng Zhang, Jun He

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Functional imaging has become an important approach for evaluating tumor physiology in vivo beyond morphologic assessment. Radiotracers used for cancer imaging are designed to mimic endogenous substrates or substrate analogues, and their accumulation can depend on membrane transport, intracellular metabolism, and clearance from normal tissues. Specifically, SLC transporters contribute to tracer uptake and signal formation, linking transporter activity with measurable imaging signals in cancer. While [18F]FDG PET/CT remains the most widely used example of transporter-associated metabolic imaging, SLC transporter-mediated imaging strategies have been developed to assess amino acid transport, sodium-dependent glucose uptake, redox metabolism, lactate exchange, nucleoside metabolism, choline metabolism, …

Spontaneous Intracranial Hypotension With Negative Brain Mri Findings: A Systematic Review Of Diagnostic Strategies And Clinical Outcomes, Marina Romozzi, Giuseppe Garignano, Valid Rastegar, Francesco Onorati, Catello Vollono, Federico Tosto, Masahito Katsuki, Yasuhiko Matsumori, Francesco Signorelli

Student Papers, Posters & Projects

BACKGROUND: Spontaneous intracranial hypotension (SIH) is a debilitating syndrome typically characterized by orthostatic headache and classic brain MRI findings. However, brain MRI abnormalities are indirect manifestations of cerebrospinal fluid (CSF) volume depletion rather than direct evidence of the leak, and some patients may present with unrevealing or absent typical brain MRI findings, posing a considerable diagnostic challenge.

METHODS: A comprehensive search of PubMed/Medline, Web of Science, and Scopus was conducted to perform a systematic review, according to PRISMA guidelines, analyzing the available evidence on MRI-negative SIH (patients without typical SIH findings on their initial brain MRI), including its clinical features, …

Streamlining Pediatric Appendicitis Evaluation In The Emergency Department, Joan C. Bruce, Douglas J. Fox, Owen N. Ferriola, Allen J. Huang, Nicholas A. Long, Erin M. Morris, Krysta M. Sutyak, Jeannette M. Joly, Carleen V. Cuevas, Akemi L. Kawaguchi, Kuojen Tsao

Summer Research Program Abstracts

No abstract provided.

Pearson Syndrome: Expanding The Clinical Spectrum Of A Mitochondrial Cytopathy-A Case Report, Alizah Faisal, Hooria Waqas, Hania Masood, Armeen Butt, Saad Rahman, Muhammad Sheraz Hameed, Syed Rafay Hussain Zaidi, Ali Iqbal, Muhammad Usama Naveed

Department of Medicine Faculty Papers

BACKGROUND: Pearson syndrome (PS) is a rare multisystem mitochondrial disorder characterized by single large-scale mitochondrial DNA deletions (SLSMDs). It typically presents in infancy with refractory sideroblastic anemia, exocrine pancreatic insufficiency, and failure to thrive. Due to its heterogeneous manifestations and resemblance to other hematological conditions, early diagnosis remains a clinical challenge.

CASE PRESENTATION: A south asian male infant presented with persistent pancytopenia, severe anemia unresponsive to intravenous and oral iron and multivitamin supplements, exocrine pancreatic insufficiency, failure to thrive, and metabolic acidosis. Born to consanguineous parents, the child had a significant family history of early infant deaths and hematological abnormalities. …

Gambaran Penyebab Klaim Bpjs Rawat Inap Berstatus Pending Di Rumah Sakit Ciremai Kota Cirebon Tahun 2025, Jazim Shebrina Kharisma Sendy, Lina Khasanah, Bambang Karmanto, Maula Ismail Mohammad

Jurnal Ekonomi Kesehatan Indonesia

Pending claims involving BPJS Kesehatan remain a challenge in the healthcare financing system in Indonesia. This condition hinders the receipt of JKN funds by healthcare facilities. In general, pending claims arise due to inconsistencies in files, disease and/or action codes, or the determination of medical measures. The same problem also occurred at Tk. III Hospital 03.06.01 Ciremai, Cirebon City, with the continued discovery of pending inpatient BPJS claims in 2025. Based on these conditions, this study aims to describe the causes of pending inpatient BPJS claims based on administrative, coding, and medical aspects. This study aims to describe the causes …

Microelement Deficiencies In Perimenopausal Women And Their Impact On Metabolic And Physical Performance: Potential Applications Of Vis–Nir Tissue Spectrophotometry And The So/Check Platform, Izabela Pabin, Damian M. Dudek, Łukasz Jaworski, Ewa Maria Kłodzińska

Baltic Journal of Health and Physical Activity

Background: The perimenopausal period, typically occurring between the ages of 40 and 55 years, represents a critical transitional stage in women’s physiology characterized by profound hormonal, metabolic, and systemic adaptations. While the endocrine aspects of this transition have been extensively investigated, increasing attention has recently been directed toward the role of micronutrient homeostasis in maintaining metabolic health and physical performance during this period. Therefore, the aim of this narrative review is to summarize current knowledge regarding microelement deficiencies in perimenopausal women and their potential impact on metabolic health and physical performance. Additionally, the review discusses the potential applications of VIS–NIR …

Mutation Screening For Confirming Suspected Spinal Muscular Atrophy Using Dried Blood Spotted On In-House Cellulose-Based Cards, Yogik Onky Silvana Wijaya, Farda Tsaqouva Ahza, Annisa Naufal Almaszahra, Mawaddah Ar Rochmah, Dian Kesumapramudya Nurputra

Makara Journal of Science

Early and accurate diagnosis for spinal muscular atrophy (SMA) has gained relevance in an era of emerging therapies to improve patient outcomes. While screening of dried blood spots (DBS) effectively detects deletion-type SMA, non-deletion cases are often missed. Mutation screening from DBS is needed to address this gap. Here, we aimed to evaluate the feasibility of an in-house, cellulose-based card for direct Sanger sequencing for variant hunting, avoiding DNA extraction and offering an alternative to commercial cards. As a proof of concept, sequences obtained from DBSs of 23 healthy individuals were compared with sequences derived from isolated genomic DNA (gDNA). …

An International Multidisciplinary Consensus Statement On Laparoscopic Liver Biopsy, Si Yi Lei, Yu Han, Don C. Rockey, Khalid Alswat, Vincent Wai Sun Wong, Nozim Jumaev, Carlos Jesus Toro-Huamanchumo, Safwan Taha, Mohamed El-Kassas, Jacob George, Mark Muthiah, Omar Ghanem, Masato Yoneda, Dao Viet Hang, Giada Sebastiani, George Papatheodoridis, Adam Abu-Abeid, Andrew G. Robertson, Sang Hyun Kim, Rudolf Weiner, Kamal Mahawar, Asim Shabbir, Mohammad Kermansaravi, Reynu Rajan, Yosuke Seki, Halit Eren Taskin, Scott Shikora, Edward Oliveros, Chetan Parmar, Qiuye Cheng, Omar Thaher, Elena Ruiz-Úcar, Rodolfo Oviedo, Rui Ribeiro, Mario Musella, Almino C. Ramos, Seung-Wan Ryu, Tamer Abdelbaki, Wei Jei Lee, Man Pan Chan, Jose Eduardo Garcia Flores, James Skinovsky, Ahmad Madkhali, Sylvia Weiner, Frank Tacke, Wah Yang, James Neuberger, Ming-Hua Zheng

Research outputs 2022 to 2026

Laparoscopic liver biopsy (LLB) provides a way to obtain liver tissue samples under direct visual inspection of the liver surface. It complements percutaneous liver biopsy (PLB) for complex or high-risk cases where PLB cannot be performed. Clinical practices for LLB vary across centers due to the lack of international standards. To improve the procedural quality and diagnostic efficiency of LLB, a multidisciplinary panel of 45 international experts from 6 continents, including hepatology, hepatobiliary surgery, gastrointestinal surgery, and metabolic and bariatric surgery, developed this consensus statement through three rounds of a modified Delphi process. This consensus covers clinical application scenarios, high-risk …

Shape-Based Profiling Of Cortical Bone Mineral Density In Growing Children: A Proof-Of-Concept Pqct Study, Anna Maria Markarian, R. Taaffe, Daniel Galvão, Jodie Cochrane Wilkie, Carolyn J. Peddle-Mcintyre, Daniel J. Schiferl, Robert U. Newton

Research outputs 2022 to 2026

Background: Understanding how bones adapt during growth is essential for promoting lifelong skeletal health. Peripheral quantitative computed tomography (pQCT) is a widely used imaging technique for assessing volumetric bone mineral density (vBMD) in pediatric populations; however, conventional methods may obscure subtle cortical adaptations. The primary aim of this study was to evaluate the feasibility of shape-based cortical vBMD profiling, with an exploratory objective of assessing its sensitivity to inter-individual variation in lean mass index (LMI). Methods: Eighteen children (6–12 years) underwent pQCT scanning at the 38% and 66% tibial sites (distal and proximal diaphysis). Cortical vBMD was quantified across three …

Pixel-Level Fiber Stratification: Quantitative Imaging Analysis Of Pigmented Lesion Morphology, Alexia R. Gerogiannis, Caroline R. Saint James

Wetterhahn Science Symposium Posters

Using a combined two-photon excitation fluorescence (TPEF) and second-harmonic generation (SHG) approach, our research seeks to further the quantification of skin components in a quest toward diagnostic tools with higher accuracy and reduced invasiveness for patients. Images are taken both ex vivo and in vivo, of healthy and malignant tissues, with a 600 × 600 micron field of view. We demonstrate how computational analysis can effectively exploit signals emitted by skin to provide diagnostic insight.

Expert Recommendations To Strengthen Chikungunya Outbreak Surveillance And Reporting For Traveler Health Protection, Daniel C. Payne, Karoun H. Bagamian, Jeffery Goad, Nathan D. Grubaugh, Michael A. Johansson, Moritz U. G. Kraemer, Eyal Leshem, Francesca F. Norman, Alfonso J. Rodríguez-Morales, Henrik Salje, Stephen Thomas, Scott C. Weaver, Lindsey A. Laytner, Rebecca Sturgis, Suzanne K. Scheele, Davidson H. Hamer

Pharmacy Faculty Articles and Research

Chikungunya, a debilitating mosquito-borne disease caused by chikungunya virus, has surged dramatically in the past two decades. Chikungunya outbreaks can intensify rapidly, with infections posing a significant endemic health burden in tropical/subtropical areas and for travelers. Health professionals require timely and accurate outbreak information to adequately protect travelers and assess chikungunya risk. However, detection is often insufficient in the areas most susceptible to outbreaks, leading to diagnostic and reporting delays. Consequently, travelers are often unaware of increased chikungunya infection risk at their destination. We assessed chikungunya surveillance and reporting resources, and we developed expert recommendations for traveler health protection. Because …