Diagnosis Commons^™

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.

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, …

35 Individuals With Huwe1-Related Neurodevelopmental Disorder And Suggested Clinical Evaluations, Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillman, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano

Department of Pediatrics Faculty Publications

HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X-linked intellectual disability, including in the patients identified by Juberg, Marsidi, and Brooks. This report describes 35 additional cases of individuals with variants in HUWE1 and suggested guidelines for clinical management. Our study includes several female cases, which have not been widely reported previously. Our findings confirm earlier reported clinical features including developmental delay, autism, hypotonia, short stature, and dysmorphic facial features as well …

Central Centrifugal Cicatricial Alopecia In Pediatric Patients: A Retrospective Analysis, Radhika Gupta, Nikhita Perry, Noelle Desir, Iain Encarnacion, Jonathan Miles, Susan Taylor, Michelle Oboite, Temitaya Ogunleye

Department Dermatology Faculty Publications

[Introduction] Central centrifugal cicatricial alopecia (CCCA) is a scarring alopecia that predominantly affects middle-aged women of African descent.¹ It begins at the vertex scalp and expands centrifugally, and given that symptoms may be absent, many patients have scarring at presentation. CCCA is primarily described in adult populations, with limited reports of CCCA in children.²^-⁴ We aimed to characterize demographics, clinical findings, and histological features among pediatric patients with CCCA to facilitate earlier diagnoses, prior to irreversible alopecia.

Understanding The Impact Of Psychosocial Barriers On Colorectal Cancer Knowledge In Emerging Black Men, Chelsey Mcgill, Maria D. Thomson, Caroline Kuno, Emmanuel Taylor, Kimberly Lawrence, Alison J. Patev, Arnethea L. Sutton, Ruth Nyagaka, Oxana Palesh, Larry D. Keen Ii

Research and Infrastructure Service Enterprise (RISE) Faculty Publications

In the United States, Colorectal Cancer (CRC) is one of the most commonly diagnosed cancers and the third leading cause of death among non-Hispanic African American/Black (henceforth Black) men. Inadequate CRC knowledge leads to missing early warning signs, delaying prevention and increasing risk. Emerging adulthood (18-25) is a key period for building healthy behaviors and addressing barriers to CRC knowledge in addition to understanding attitudes and practices to CRC screening. Psychosocial barriers - including social support, medical mistrust, and perceived racial discrimination - contribute to the lack of CRC knowledge among older Black men, yet emerging adult Black men remain …

Stability Of Salivary Microrna Measures Across An Ncaa Division I Football Season: Implications For Microrna As A Biomarker Of Concussion, Thomas R. Campbell, Martina Zamponi, Delaney Leathers, Julie Cavallario, Jessica C. Martinez, Peter A. Mollica

Rehabilitation Sciences Faculty Publications

Background

Clinicians often face challenges in concussion care due to a heavy reliance on subjective patient input. Recently, research has sought objective biomarkers, like salivary microRNAs, to improve concussion management. However, significant limitations hinder the use of microRNAs as a diagnostic tool, including the cumulative effects of a contact sport season. A better understanding of the response to a contact sport season would help researchers and clinicians interpret expression changes at the time of injury in the context of seasonal variation. in Therefore, this study investigated the reliability of previously identified salivary microRNA targets across one contact sport season.

Methods …

Educational Case: Atypical Presentation Of Primary Hyperparathyroidism With Brown Tumor, Ariel Flotte, Jonathan Light, Harrison Klause, Richard M. Conran

Department of Biomedical and Translational Sciences Faculty Publications

The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology.

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 …

Prognostic Factors For Patients Under 45 Undergoing Surgery For Colorectal Liver Metastases: A Seer Population-Based Study, Gabrielle Grob, Fang Fang, Matvey Karpov, Eric Feliberti, Marybeth Hughes, Rachel Burke, Winifred Lo

Department Surgery Faculty Publications

Background and Objectives: Colorectal cancer (CRC) has been on the rise in adults younger than 50. Surgical resection is a potentially curative treatment option for patients with colorectal liver metastases (CRLM). The aim of this study was to describe patient and tumor characteristics associated with disease-specific survival in young patients (<  45 years) versus older patients (≥ 45 years) with isolated CRLM.

Methods: The SEER database was queried for patients with CRLM who underwent colon and liver resection from 2010 to 2021. Patients under age 20, with metastases beyond the liver, or who had not had surgery for liver metastases were excluded. Cox regression was used to analyze demographic factors, tumor …

A Chicken Model For Non-Invasive Diagnosis Of Infant Developmental Dysplasia Of The Hip (Ddh) Using Acoustic Transmission Measurements, Aliza Shah

Honors Undergraduate Theses

Developmental dysplasia of the hip (DDH) is a condition characterized by abnormal development and stability of the hip joint. In a healthy infant, the femoral head (ball) fits securely within the acetabulum (socket of the pelvis), allowing for proper joint function. In DDH, the relationship is disrupted, ranging from mild acetabular dysplasia to partial (subluxation) or complete dislocation of the femoral head. This condition represents a range of structural abnormalities that develop during early growth. The integrity of the hip joint is essential for physical mobility, and disruption of this structure can lead to significant functional impairment. DDH may result …

Revisiting Nasal Polyp Scoring In Clinical Trials: Interpretive Variability And The Need For Standardization, Leigh J. Sowerby, Babak Pourmomenarabi, Antonino Maniaci, Olivia Ginty, Joseph Khristian Han

Department of Otolaryngology (ENT) Faculty Publications

[Introduction] Borish et al. provided an excellent review highlighting methodological variability among the six pivotal Phase III trials [1]. One critical yet overlooked issue is the inconsistent application of the endoscopic nasal polyp score (NPS), a primary outcome measure in all trials.

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 …

Advances In Survival Analyses: Machine Learning Methods And Model Comparison, Ryan Gately, Dharshana Sabanayagam, Wai H. Lim, Lin Zhu, Farzaneh Boroumand, Shuvo Bakar, Armando Teixeira-Pinto, Germaine Wong

Research outputs 2022 to 2026

This is the second article in a 2-part series on survival analysis. In part 1, we discussed the core concepts and traditional methods used in survival analysis. Part 2 explores the novel approaches to predict survival outcomes and evaluate model performance. To facilitate hands-on learning and practical implementation, the R code used in these analyses is provided in the supplementary materials, along with instructions to help readers apply these methods to their data.

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 …

Wearable Biosensors For Continuous Monitoring Of Chronic Kidney Disease: Materials, Biofluids, And Digital Health Integration, Anupamaa Sivasubramanian, Shankara Narayanan, Gymama Slaughter

Center for Bioelectronics Publications

Chronic kidney disease (CKD) is a progressive and irreversible disorder affecting over 850 million individuals globally and is associated with significant morbidity, mortality, and healthcare burden. Conventional diagnostic approaches rely on intermittent laboratory measurements, including serum creatinine, estimated glomerular filtration rate (eGFR), and urinary albumin, which provide limited temporal resolution and fail to capture dynamic physiological changes. Recent advances in wearable biosensing technologies offer new opportunities for continuous, non-invasive monitoring of biochemical and physiological markers relevant to renal function. This review provides a comprehensive analysis of wearable biosensors for CKD monitoring, focusing on sensing mechanisms (electrochemical, optical, and field-effect transistor), …

Ai-Assisted Surface-Enhanced Raman Spectroscopy For Cardiovascular Diagnostics: From Plasmonic Materials To Clinical Translation, Anju Joshi, Gymama Slaughter

Center for Bioelectronics Publications

Raman spectroscopy (SERS) has emerged as a powerful analytical technique, offering molecular fingerprint specificity and ultrasensitive detection of cardiac biomarkers. Recent advances in plasmonic nanostructures, surface functionalization strategies, and flexible sensing platforms have significantly improved the analytical performance of SERS-based biosensors. In parallel, the integration of artificial intelligence (AI) and machine learning has enabled robust interpretation of complex spectral datasets, facilitating automated biomarker classification and improved diagnostic accuracy in heterogeneous biological environments. Despite these advances, the field remains fragmented, with limited integration between nanomaterial design, biomarker selection, and data-driven analysis, and persistent challenges related to reproducibility, standardization, and clinical validation. …

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 …

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 …

The Myopia Epidemic: Integrating Genetic, Environmental, And Epigenetic Pathways To Define A Critical Window For Intervention, Pranavika Balaji

Undergraduate Research Posters

Myopia, or nearsightedness, has increased rapidly worldwide and is now a major public health concern caused by both genetic and environmental factors. Current understanding shows that too much near work, limited time spent outdoors, and prolonged screen use contribute to abnormal eye growth in individuals who may already have a genetic predisposition. At the molecular level, epigenetic changes and shifts in DNA activity, often influenced by environmental conditions, affect the signaling pathways that regulate eye development and may help explain why myopia is increasingly common among children. This paper synthesizes recent environmental, genetic, and epigenetic research to explain how these …

Nanosecond Pulsed Electric Fields For Extracellular Vesicle Engineering: From Electro-Exocytosis To Cargo Modulation, Art Neal, Teresa Graham, Mohamadmahdi Samandari, Arash Ghorbannia, Anca Dobrian, Stephen J. Beebe, Ruben M. L. Colunga-Biancatelli

Bioelectrics Publications

Extracellular vesicles (EVs), including small extracellular vesicles (sEVs) and medium/large extracellular vesicles (MVs), have emerged as promising therapeutic vectors and diagnostic biomarkers across various branches of biomedicine. However, the clinical translation of EV-based technologies remains constrained by persistent challenges in manufacturing: insufficient yield from primary cell sources, limited control over cargo composition, and the absence of scalable, standardized production platforms. Nanosecond pulsed electric fields (nsPEF) represent an emerging biophysical approach that can address several of these limitations. Unlike conventional electroporation, which targets the plasma membrane using microsecond-to-millisecond pulses, nsPEF delivers ultrashort (1–300 ns), high-amplitude (10–300 kV/cm) pulses that penetrate intracellularly …