Diagnosis Commons^™

Finding Foxg1 Syndrome In An Adult Patient, Claudia Ludden, Timothy P. Connelly

South Atlantic Division GME Research Days 2026

No abstract provided.

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 …

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 …

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, …

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.

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.

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, …

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 …

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 …

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, …

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 …

The Crucial Role Of Machine Learning Models In Predicting Current Childhood Asthma: Model Comparison, Calibration, And Shap-Based Interpretation, Aditya Chakraborty, A. K.M. Raquibul Bashar

Epidemiology, Biostatistics, & Environmental Health Faculty Publications

Background: Asthma is one of the most prominent chronic diseases in children and one of the most challenging ailments to diagnose in infants and preschoolers in the United States. Predictive models can be instrumental in improving early diagnosis, personalized treatment strategies, and disease progression. By utilizing nationalized data, this study focuses on building and comparing high-performing analytical predictive models based on the relevant risk factors and identifying the most influential predictors.

Methods: We analyzed cross-sectional BRFSS Asthma Call-Back Survey data (2011-2020; N = 9,813) and randomly split participants into training and testing sets. An XGBoost model (hyperparameters tuned via grid …

Maxgrnet: A Multi-Axis Vision Transformer With Improved Generalization For Eye Disease Classification Using Explainable Ai With Insertion-Deletion Operations On Fundus Images, Md Mehedi Hasan Santo, Fuyad Hasan Bhoyan, Fuad Ibne Jashim Farhad, Fahmid Al Farid, Sovon Chakraborty, Md Humaion Kabir Mehedi, Jia Uddin, Hezerul Bin Abdul Karim

Computer Science Faculty Publications

Eye diseases, including diabetic retinopathy (DR), glaucoma, and cataracts, represent a major global health concern and can lead to severe visual impairment or blindness if not identified in a timely manner. This study proposes a novel eye disease classification framework based on a multi-axis vision transformer (MaxViT) applied to color fundus images with Explainable Artificial Intelligence (XAI) techniques to enhance model transparency. The proposed architecture integrates transformer-based attention mechanisms with Global Response Normalization (GRN)-based multi-layer perceptron (MLP) layers to capture complex spatial and contextual relationships within fundus images effectively. The model was evaluated on a publicly available eye disease classification …

A Blood-Based Test For Colorectal Cancer Screening, Joshua Cullison

HCA Healthcare Journal of Medicine

Within the United States (US), colorectal cancer (CRC) remains the fourth most common malignancy and is responsible for over 50 000 deaths annually, second only to lung cancer in cancer mortality. Despite increased public awareness and increasing screening rates, the US remains far below the 80% screening mark set by the National Colorectal Cancer Roundtable at 59%. The addition of non-invasive blood-based tests for CRC screening could potentially increase screening rates and lower CRC deaths.

I performed a PubMed search using the search term “blood-based colorectal cancer screening.” I was particularly interested in articles that looked at Shield, which is …

Cytomegalovirus As A Potential Trigger For Acute Coronary Syndrome: A Case Of Nstemi In A Previously Healthy Patient, Hussam Al Hennawi, Muhammad Sabri, David Teng, Maxwell Berman, Botros Shenoda

Abington Jefferson Health Papers

Cytomegalovirus (CMV) infection has been implicated in endothelial dysfunction and atherogenesis, yet its role as a potential trigger for acute coronary syndrome (ACS) remains underrecognized. We present a case of a 32-year-old male with no prior medical history who developed non-ST elevation myocardial infarction (NSTEMI) and was subsequently found to have active CMV infection. The patient had no known history cardiovascular disease, though subsequent testing did reveal additional underlying risk factors. This case highlights the need to consider infectious etiologies, including CMV, as contributors to ACS in young, otherwise apparently healthy individuals. Understanding the interplay between viral infections and atherosclerotic …

Incidental Cardiac Metastasis In Breast Carcinoma, Yaomin Chen, Haibo Wang, Zhiyan Fu, Ellen Elizabeth Connor

School of Medicine Faculty Publications

Background and Clinical Significance: Metastatic breast cancer is a major global health burden, with common metastatic sites including the bones, lungs, liver, and brain. Cardiac metastasis is rare and often clinically silent, leading to underdiagnosis. Recognizing cardiac involvement, even when asymptomatic, is important for understanding the full extent of disease and ensuring optimal patient care. Case Presentation: We report the case of a woman with advanced breast carcinoma who showed no clinical or imaging evidence of cardiac involvement throughout the course of her illness. Following her death from progressive metastatic disease, an autopsy revealed metastatic carcinoma infiltrating the myocardium and …

Myocardial Pi3k-Akt Pathway And Cardiovascular Disease Etiology, Bryson Lovorn, Brennan Kaplan

Student Scholar Symposium

Cardiovascular diseases (CVD) are the leading causes of death in the United States according to recent data from the Center for Disease Control (CDC). Myocardial infarctions, heart attacks, Coronary Artery Disease, ischemic reperfusion injuries, and hypertrophic cardiomyopathies represent common pathologies leading to the hospitalization of Americans. The etiologies of these diseases vary, however there is a common link. The phosphatidylinositol-3-kinase (PI3K) AKT pathway is a cellular pathway that is commonly overexpressed or repressed in myocytes. The human body is in an active limbo to maintain homeostasis. At a cellular level this can be simplified to a delicate balance between cell …

Urinothorax And Empyema: Presentation Of An Unusual Complication Of A Rare Condition, Nolan Fox, Nicholas Fox, Shourjo Chakravorty, Neeraj Sinha

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

A 68-year-old male with a history of metastatic bladder cancer and urinary obstruction presented with intractable hiccups and chest pain is presented in this case. He was found to have a unilateral pleural effusion in addition to ipsilateral renal metastasis abutting the diaphragm. Imaging revealed empyema. Thoracentesis revealed positive cultures and a lack of malignant cells on cytology. Comorbid urinary obstruction and urinary tract infection suggested the rare diagnosis of an infected urinothorax. Thoracentesis also revealed pleural fluid creatinine greater than serum creatinine, meeting the most specific diagnostic criteria for urinothorax and establishing the diagnosis. Treatment aimed at evacuating the …

Diagnosis Of Platelet Dysfunction In Children: Clinical Predictors And Test Methods, Bhavya S. Doshi, Eric N. Thompson, Walter Faig, Abigail Wax, Amrom E. Obstfeld, Michele P. Lambert

Student Papers, Posters & Projects

Evaluation for platelet function disorders (PFD) in children is complicated by their limited exposure to hemostatic challenges, large volumes needed for light transmission aggregometry (LTA) testing, and limited data on the performance characteristics of whole-blood methods such as whole-blood impedance lumiaggregometry (WBILA). The objective of this study was to determine the clinical variables associated with the diagnosis of a PFD. A single-center, retrospective, cohort study of children evaluated for PFD was conducted. Medical charts were abstracted for demographics, medications, testing indications, bleeding sites and severity, and laboratory results. Univariate odds ratios (OR) and multivariable modeling were conducted for association of …