Diagnosis Commons^™

Assessment Of Skin In Patients With Systematic Sclerosis Using High-Frequency Ultrasound And Shear Wave Elastography: A Comparative Study With Histology, Molecular, And Clinical Parameters, Ruhani Desai, Filemon Tan, Minghua Wu, Jeffery L. Browning, Samuel Theodore, Meng Zhang, Brian Skaug, Harshdeep Singh Chawla, Manmohan Singh, Salavat Aglyamov, Kirill V. Larin, Maureen Mayes, Shervin Assassi

Department of Medicine Faculty Publications

Objective: Ultrasound (US) has been proposed as a potential tool for assessing skin fibrosis in systemic sclerosis (SSc). However, a large-scale comparison of US-based assessment with histologic markers of skin fibrosis has not been reported. We evaluated US-based skin assessments for their face validity (differentiation between involved SSc and healthy control [HC] skin), construct validity (comparison to modified Rodnan skin score [mRSS]), and criterion validity (comparison to histologic and gene expression fibrosis markers).

Methods: Twenty HCs and 52 patients with SSc underwent clinical and US assessment followed by a forearm skin biopsy. Predefined areas were assessed on the finger, hand, …

Multimodal Machine Learning For Alzheimer's Disease Classification Using Adni Biomarker Fusion, Hesameddin Mostaghimi, Hamid R. Okhravi, Bahar Niknejad, Daniel A. Cohen, Michel A. Audette, Alzheimer's Disease Neuroimaging Initiative

Electrical & Computer Engineering Faculty Publications

Despite ongoing advances, accurate diagnosis of Alzheimer’s disease (AD) remains challenging due to its multifactorial nature, comorbidities, and clinical heterogeneity. Accordingly, approaches that combine multimodal data may improve AD classification by integrating complementary information. To investigate this, we evaluated classification performance using a preprocessed ADNI-3 dataset comprising a shared set of clinical/cognitive features along with four imaging modality-based cohorts: trimodal (MRI + amyloid PET + tau PET), MRI + amyloid PET, MRI + tau PET, and MRI-only. We trained a range of supervised machine learning (ML) and deep learning (DL) classifiers using stratified five-fold cross-validation and evaluated performance using accuracy, …

Transvascular Endobronchial Ultrasound-Guided Transbronchial Needle Aspirations (Ebus-Tbna) To Confirm Urothelial Carcinoma Metastasis To The Pulmonary Artery, Kyle Admire, Stephen Gegick

Department of Medicine Faculty Publications

Tumours within the pulmonary arteries provide a diagnostic challenge due to their similar appearance to pulmonary emboli. Often, the decision to sample is multidisciplinary and the best approach to take is often unknown. Here we describe a case of urothelial carcinoma which metastasised to the mediastinum with evidence of tumour burden within the pulmonary artery. Sampling of this by endovascular and thoracoscopic means was unsuccessful; however, we were able to provide a diagnosis using direct visualization with endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA). This report is the first of a central pulmonary artery tumour caused by urothelial carcinoma biopsied by …

Persistent Hypoxemia On Home Sleep Apnea Testing Prompting Further Evaluation For Pulmonary Embolism: A Case Report, Kyle Admire, Andrew Githaiga

Department of Medicine Faculty Publications

Obstructive sleep apnea is a condition characterized by recurrent upper airway collapse during sleep, which may be associated with sleep disruption and repetitive oxygen desaturations. It is diagnosed by nocturnal in-lab polysomnography or home sleep apnea testing. We present a case of an otherwise healthy individual who had home sleep apnea testing that revealed persistent, unexplained hypoxemia which, on further investigation, was found to be due to a saddle pulmonary embolism.

Cold-Sensitive Acral Hand Lesions, Avery H. Seward, Jocelyn H. Larocque

Department of Medicine Faculty Publications

[Case description] An otherwise healthy woman in her 60s presented with a 2-year history of a persistent, itchy, and tender rash on the dorsal hands. The rash fluctuated in severity with the seasons, worsening during the colder months. The patient denied joint pain and fatigue, or lesions elsewhere.

Examination revealed partially blanchable violaceous plaques on the dorsal hands with partial sparing of the proximal and distal interphalangeal joints (Fig 1). A few punctate, crusted erosions and purpuric macules were present on the dorsal and volar distal phalanges (Figs 2 and 3).

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 …

Implementation And Clinical Utility Of Ultra-Low-Field Portable Magnetic Resonance Imaging For Postprocedural Neurological Evaluation In Ambulatory Neurosurgery: Illustrative Cases, Devan Patel, Vinay Jaikumar, Taysia P. T. Morioka, Laz Rifkin, Kenneth S. Jacoby, Jaims Lim, Anais Andrade, Aimee C. Degaetano, Pui Man Rosalind Lai, Elad I. Levy

EVMS School of Health Professions Faculty Publications

BACKGROUND

Elective endovascular neurosurgical procedures are increasingly performed in ambulatory neurosurgery centers, enabled by advances in catheter technology, safety of conscious sedation, and refined patient selection. Although complication rates are low, rapid evaluation of postprocedural neurological deficits remains critical. Conventional MRI is often impractical in outpatient or procedural settings, whereas ultra-low-field portable MRI (ULF-pMRI) systems (such as Swoop) allow bedside imaging with favorable diagnostic performance.

OBSERVATIONS

Two women in their 60s developed acute neurological deficits at an ambulatory neurosurgery center (ANSC) after diagnostic cerebral angiography in one case and elective internal carotid artery flow diversion in the other. In both …

Cervicovaginal Lavage Fluid Iron And Manganese Levels In Women With And Without Vaginitis, Barbara Kozma, David Ratonyi, Bence Kozma, Peter Takacs, Attila G. Sipos

Department of Obstetrics & Gynecology Faculty Publications

Transition metals such as iron and manganese are critical for cellular metabolism, redox balance, and immune function, and they also influence host–pathogen interactions. Vaginitis is characterized by mucosal inflammation that may alter local trace-element homeostasis. We hypothesize that inflammatory conditions such as vaginitis may be associated with altered cervicovaginal iron and manganese levels. We performed a prospective, single-center cohort study at the University of Debrecen (Hungary) between April 2023 and April 2024, enrolling 80 women ≥ 18 years with vulvovaginal complaints. Participants were assessed at baseline and at weeks 4, 8, and 12 with clinical evaluation and cervicovaginal lavage (CVL) …

Importance Of Placental Evaluation In Pregnancies At High Risk For Placenta Accreta Spectrum: Expert Clinical Perspective, Rebecca H. Jessel, Alesha White, Hope Y. Yu, Amie L. Hollard, Meena Khandelwal, Carolyn M. Zelop, Jennifer Philips, Alireza A. Shamshirsaz, John C. Kingdom, Alfred Abuhamad, Christina L. Herrera, Pan American Society For Placenta Accreta Spectrum (Pas2)

Department of Obstetrics & Gynecology Faculty Publications

Background

Placenta accreta spectrum (PAS) is a leading cause of obstetric morbidity and peripartum hysterectomy. Rising cesarean delivery rates, advanced maternal age, and assisted reproductive technologies have increased its incidence. Early, standardized diagnosis is essential for multidisciplinary planning and improved outcomes, yet formal screening guidelines are lacking.

Objective

To raise awareness of the importance of antenatal screening for PAS, summarize key clinical and imaging risk factors, and propose a standardized mid-trimester ultrasound protocol for high-risk patients.

Methods

An expert panel convened under the Pan-American Society for the Placenta Accreta Spectrum (PAS2) reviewed available evidence, risk stratification models, and prior consensus …

The Taper Sign: Sonographic Representation Of Uterine Dehiscence In Severe Cases Of Placenta Accreta Spectrum, Uma Deshmukh, Anna M. Modest, Alfred Abuhamad, Alireza A. Shamshirsaz, Jonathan L. Hecht, Scott A. Shainker

Department of Obstetrics & Gynecology Faculty Publications

Introduction: Prenatal diagnosis of placenta accreta spectrum (PAS) depends on reliable ultrasound markers and skilled image interpretation. Existing PAS markers emphasize placental features suggestive of abnormal adherence and require advanced image optimization. However, emerging hypotheses suggest that uterine dehiscence—not placental invasion—is the central mechanism underlying PAS, particularly in severe (Grade 3) disease. Despite this, few established ultrasound markers address this uterine dehiscence. We describe a novel ultrasound marker, the taper sign, which uniquely represents the uterine dehiscence in severe PAS with anterior placenta previa, and outline a standardized technique for image acquisition and interpretation.

Methods: This descriptive report details the …

Consensus And Controversies Of International Guidelines For The Diagnosis, Surveillance, And Management Of Fetal Growth Restriction: An Updated Comparison, Daniele Diane Mascio, Suneet P. Chauhan, Tullio Ghi, Asma Khalil, Juliana G. Martins, Sara Sorrenti, Tamara Stampalija, Fabrizio Zullo, Francesc Figueras

Department of Obstetrics & Gynecology Faculty Publications

OBJECTIVE: To compare areas of consensus and disagreements across contemporary international and national guidelines on the diagnosis, surveillance, and management of fetal growth restriction (FGR).

DATA SOURCES: Electronic searches of MEDLINE from database inception up to March 2026 using MeSH terms and keywords related to FGR and guidelines. STUDY ELIGIBILITY CRITERIA: Critical, structured comparison of national or international guidelines on FGR published since 2010. Final inclusion required unanimous agreement from all authors.

STUDY APPRAISAL AND SYNTHESIS METHODS: Pre-specified extraction across domains: definition; prediction/prevention; surveillance tools and frequency; delivery timing and mode; and labor induction methods. Dual data …

Trends In Hypertension Prevalance And Control In The United States Over 25 Years, Omar Saleh, Neda Rehan, Saleh Mostafa, Rehan Qayyum

Department of Medicine Faculty Publications

Despite sustained public health efforts, hypertension remains highly prevalent in the United States, with persistent disparities across demographic and socioeconomic groups. We examined 25-year trends in hypertension prevalence, undiagnosed hypertension, and on-treatment uncontrolled hypertension in the United States using nationally representative National Health and Nutrition Examination Survey (NHANES) data from adults aged ≥18 years. Hypertension was defined as systolic BP ≥130 mmHg, diastolic BP ≥80 mmHg, or current antihypertensive use. Undiagnosed hypertension was defined as elevated BP without prior diagnosis or treatment, while on-treatment uncontrolled hypertension was defined as diagnosed hypertension with BP ≥130/80 mmHg despite treatment. Survey-weighted generalized linear …

A Fishy Situation: Hand Infection Due To Mycobacterium Marinum Mistaken For Giant Cell Tumor, Alynna Knaub, Dylan Baker, Jennifer Hanrahan

Department of Medicine Faculty Publications

Mycobacterium marinum is an acid-fast bacterium (AFB) associated with exposure to water and aquatic species. When inoculated, infection can result in nodular cutaneous lesions. In the absence of detailed history or culture data, these nodular skin lesions can be mistaken for noninfectious orthopedic conditions. We present a case of M. marinum mistaken for a giant cell tumor. This case illustrates the overlap in these conditions, as well as the utility of QuantiFERON Gold testing to provide supportive evidence for the diagnosis of Mycobacterium marinum.

Aggressive Natural Killer Cell Leukemia: A Rare And Rapidly Progressive Hematologic Malignancy—Case Report And Literature Review, Jennifer Priessnitz, Ali Hariri, Yuliya Levkiavska, Kyle E. Bonner, Stephan I. Fisher, Joshua M. Sill

Department of Medicine Faculty Publications

Aggressive natural killer cell leukemia (ANKL) is a rare, fulminant hematologic malignancy characterized by neoplastic proliferation of mature NK cells. It is frequently associated with Epstein-Barr virus (EBV) infection, although EBV-negative cases have also been reported. While typically observed in young to middle-aged adults of East Asian descent, increasing recognition has led to identification of ANKL across diverse age groups and ethnicities. The disease is defined by a rapid clinical course and poor prognosis, underscoring the importance of early diagnosis and effective treatment. We present a case of a 71-year-old Caucasian male who developed fever, altered mental status, hepatosplenomegaly, pancytopenia, …

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 …

Association Of Valvular Disease Progression Using Echocardiographic Findings In A Large U.S. Cohort, Abes A. Bautista Neughebauer, Amin Yehya, Raymond L. Benza, Deepak Talreja

Department of Medicine Faculty Publications

Background

The prevalence of valvular disease in the US is approximately 2.5%. Given that over 5 million Americans are affected, it is crucial to find those at higher risk of progression. The goal of this paper is to uncover which patients are more likely to have valvular disease progression using demographic factors, EKG and echocardiogram (ECHO) findings.

Methods

This paper utilized the EchoNext Database, which pairs 100,000 electrocardiograms and echocardiograms based on specific structural heart disease labels. Univariate and multivariate logistic regression were used to find risk factors for progression for aortic stenosis (AS), aortic regurgitation (AR), mitral regurgitation (MR), …

Comparison Of Fully Covered Self-Expandable Metal Biliary Stents With Or Without Anchoring Double-Pigtail Plastic Stents: A Systematic Review And Meta-Analysis, Samuel Tanner, Fadi Hawa, Alejandra Vargas, Priyata Dutta, Antonio Facciorusso, Jean M. Chalhoub, Jorge D. Machicado

Department of Medicine Faculty Publications

Background and AIMS

Fully covered self-expandable metal stents (FcSEMSs) have become the mainstay of treatment for a variety of biliary pathologies. However, FcSEMSs have been associated with a greater rate of stent migration than other types of stents. A technique of anchoring double-pigtail plastic stents (DPPSs) has been proposed to minimize migration of biliary FcSEMSs. Herein, we evaluated the efficacy of anchoring DPPSs among patients treated with biliary FcSEMSs.

Methods

We performed a systematic review using PubMed, EMBASE, and Web of Science from database inception through August 2023. Full-text articles comparing FcSEMSs with or without anchoring DPPSs were included. We …

Dry Medical Thoracoscopy With Artificial Pneumothorax Induction: A Scoping Review, Nai Chien Huan, Larry Ellee Nyanti, Emilia Sheau Yuin Toh, Kong Meng Tung, Fui Bee Woo, Vikneshwara Shanmugam, Sarvin Vignesh, Y. C. Gary Lee

Research outputs 2022 to 2026

Background: Dry medical thoracoscopy (MT) allows access into the pleural cavity in the absence of effusion; but its role, safety, and techniques remain poorly defined. This scoping review summarises current evidence on indications, procedural approaches, diagnostic yield, and safety of dry MT; and highlights gaps to guide future research. Methods: We conducted a scoping review in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) guidelines. PubMed and Google Scholar databases were systematically searched for original studies reporting on dry MT involving pneumothorax induction. Study selection and data extraction followed the Joanna Briggs Institute …

A Unified Automated And Explainable Ai Framework For Drug Discovery, Clinical Diagnostics, And Public Health Data Prediction, Lord Coffie

College of Graduate Studies: Theses & Dissertations

This thesis investigates the development of automated, explainable artificial intelligence systems to improve automated scientific discovery, clinical diagnostic support, and public health decision-making. Three independent yet thematically aligned studies were conducted across cheminformatics, radiology, and population health. Study A introduces an automated and explainable machine learning pipeline for Quantitative Structure–Activity Relationship (QSAR) modeling using RDKit-derived molecular descriptors. The pipeline performs systematic preprocessing, consensus-based feature selection (mutual information, random forest importance, RFECV), and benchmarks six supervised models—Random Forest, XGBoost, Support Vector Machine, Balanced Random Forest, EasyEnsembleClassifier, and a blended meta-ensemble, achieving AUC = 0.90 and accuracy = 0.83, while ensuring interpretability …

A Mass Cytometry-Based Blood Cell Phenotyping Workflow Enabling Inclusion Of Resource-Limited And Rural Sites In Immune System Studies, Natalie J. Smith, Michael Cohen, Lauren Tracey, Julie Alipaz, Christina Loh, David King, Neha Pulyani, Rebecca Auzins, Elin Gray, Sandra Taylor, Rajat Rai, Steven Kao, Barbara Fazekas De St Groth, Helen M. Mcguire

Research outputs 2022 to 2026

Insight into disease detection and treatment through comprehensive immune phenotyping relies on the generation of high-quality data. However, the execution of robust immune monitoring in clinical trials by flow cytometry is complex due to logistical challenges in sample preparation and reagent stability. These challenges are exacerbated when considering remote and rural communities in Australia, which are burdened by both an increased prevalence and a worse prognosis of many chronic and infectious pathologies. This is not unique to the Australian context as globally remote and rural communities are underrepresented in biomedical research studies, contributing to persistent health inequities. To address these …