Diagnosis Commons^™

The "Dual-Port" Approach To The Posterior Incisura: A Quantitative Cadaver Study Of A Combined Endoscopic Paramedian Supracerebellar Infratentorial And Occipital Interhemispheric Transtentorial Approach, Wesley Shoap, Ezequiel Goldschmidt, Roberto Rodriguez Rubio

School of Medicine Faculty Publications

BACKGROUND: The posterior incisura is a deep and surgically challenging area with complex neurovasculature. Endoscopic paramedian supracerebellar infratentorial approaches (EPSCITAs) have improved access and visualization of this region. However, endoscope and instrument conflict within this deep and narrow corridor remains a key limitation. This study evaluates the feasibility of a combined EPSCITA and endoscopic occipital interhemispheric transtentorial approach (EOIHTTA) with the aim of improving surgical freedom and visualization in this region. METHODS: Five embalmed and latex-injected cadaveric donors were dissected bilaterally (10 sides total). Measurements were taken at the EPSCITA port and then were repeated after addition of the EOIHTTA …

The Dubr/Mir-210-5p/Retsat Axis In Cholesterol-Associated Steatohepatitis: Clinical Signatures And Molecular Mechanisms, Hana Mahmoud Abdelzaher

Theses and Dissertations

Metabolic-associated fatty liver disease (MAFLD) represents an increasing global health challenge, with cholesterol-associated steatohepatitis (CASH) emerging as a distinct pathological entity warranting investigation. While CASH demonstrates unique features compared to traditional triglyceride-driven steatohepatitis, its underlying molecular mechanisms remain poorly understood. This study investigates a novel regulatory axis involving DPPA2 Upstream Binding RNA (DUBR), miR-210-5p, and retinol saturase (RETSAT). 170 patient samples revealed progressive axis dysregulation in disease states, with RETSAT emerging as a highly accurate diagnostic marker (AUC=1.000). Using novel in vitro models of MASH and CASH, we demonstrated that miR-210-5p modulation significantly affects lipid accumulation and cellular phenotype, with …

Revising And Consolidating The Dsm-5 And Icd-11 Post-Traumatic Stress Disorders Into A Dimensional Spectrum-Based Disorder: A Literature Review, Samuel Milton Shatsky

University Honors Theses

This thesis investigates the clinical, cultural, and theoretical implications of replacing the current DSM-5 and ICD-11 categorical diagnoses of posttraumatic stress disorder (PTSD) and complex posttraumatic stress disorder (CPTSD) with a unified dimensional framework: trauma spectrum disorder (TSD). The proposed TSD model addresses ongoing concerns around diagnostic inflation, treatment misalignment, and clinical confusion stemming from binary trauma categorizations. This thesis explores whether adopting a dimensional diagnostic model to replace DSM-5 and ICD-11's current PTSD and CPTSD designations could lead to improved treatment outcomes and diagnostic clarity.

Methodology consisted of an extensive literature review of the field's current research. Using the …

Childhood Gastroesophageal Reflux Disease: A Comprehensive Review Of Disease, Diagnosis, And Therapeutic Management, Daniyal Raza, Farhan Mohiuddin, Muhammad Haris Khan, Maheen Fawad, Syed Musa Raza

School of Medicine Faculty Publications

Gastroesophageal reflux disease (GERD) affects both adults and children, although the symptoms differ significantly between these groups. While adults typically experience heartburn and regurgitation, children may present with more subtle signs, such as failure to thrive, chronic cough, wheezing, and Sandifer syndrome. Diagnosing GERD in children necessitates a multifaceted approach due to the diverse symptomatology and challenges in communication. Clinical assessment serves as the cornerstone of diagnosis, supported by tools like pH monitoring, esophageal impedance testing, and upper gastrointestinal endoscopy. Imaging studies, such as barium swallow, can also provide valuable insights into anatomical abnormalities and the extent of reflux. Treatment …

Advances In Molecular Imaging Of Vegfrs: Innovations In Imaging And Therapeutics, Hanieh Karimi, Sarah Lee, Wenqi Xu, Sigrid A. Langhans, David K. Johnson, Erik Stauff, Heidi H. Kecskemethy, Lauren W. Averill, Xuyi Yue

Department of Radiology Faculty Papers

Vascular endothelial growth factor receptors (VEGFRs) are key regulators of angiogenesis, lymphangiogenesis, and vascular permeability, playing essential roles in both physiological and pathological processes. The VEGFR family, including VEGFR-1, VEGFR-2, and VEGFR-3, interacts with structurally related VEGF ligands (VEGFA, VEGFB, VEGFC, VEGFD, and placental growth factor [PlGF]), activating downstream signaling pathways that mediate critical cellular processes, including proliferation, migration, and survival. Dysregulation of VEGFR signaling has been implicated in numerous diseases, such as cancer, cardiovascular conditions, and inflammatory disorders. Targeting VEGFRs with radiopharmaceuticals, such as radiolabeled peptides, antibodies, and specific tracers like 64Cu-bevacizumab and 89Zr-ramucirumab, has emerged as a powerful …

Biomarker-Guided Imaging And Ai-Augmented Diagnosis Of Degenerative Joint Disease, Rahul Kumar, Kyle Sporn, Aryan Borole, Akshay Khanna, Chirag Gowda, Phani Paladugu, Alex Ngo, Ram Jagadeesan, Nasif Zaman, Alireza Tavakkoli

Department of Medicine Faculty Papers

Degenerative joint disease remains a leading cause of global disability, with early diagnosis posing a significant clinical challenge due to its gradual onset and symptom overlap with other musculoskeletal disorders. This review focuses on emerging diagnostic strategies by synthesizing evidence specifically from studies that integrate biochemical biomarkers, advanced imaging techniques, and machine learning models relevant to osteoarthritis. We evaluate the diagnostic utility of cartilage degradation markers (e.g., CTX-II, COMP), inflammatory cytokines (e.g., IL-1β, TNF-α), and synovial fluid microRNA profiles, and how they correlate with quantitative imaging readouts from T2-mapping MRI, ultrasound elastography, and dual-energy CT. Furthermore, we highlight recent developments …

Tumor Microenvironment Governs The Prognostic Landscape Of Immunotherapy For Head And Neck Squamous Cell Carcinoma: A Computational Model-Guided Analysis, Priyan Bhattacharya, Alban J Linnenbach, Andrew P. South, Ubaldo E. Martinez-Outshoorn, Joseph M. Curry, Jennifer M. Johnson, Larry A. Harshyne, Mỹ G. Mahoney, Adam J. Luginbuhl, Rajanikanth Vadigepalli

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

Immune checkpoint inhibition (ICI) has emerged as a critical treatment strategy for squamous cell carcinoma of the head and neck (HNSCC) that halts the immune escape of the tumor cells. Increasing evidence suggests that the onset, progression, and lack of/no response of HNSCC to ICI are emergent properties arising from the interactions within the tumor microenvironment (TME). Deciphering how the diversity of cellular and molecular interactions leads to distinct HNSCC TME subtypes subsequently governing the ICI response remains largely unexplored. We developed a cellular-molecular model of the HNSCC TME that incorporates multiple cell types, cellular states, and transitions, and molecularly …

Comparison Between Pipeline Embolization Device (Ped) Versus Flow Redirection Endoluminal Device (Fred) For Intracranial Aneurysms: A Comprehensive Systematic Review And Meta-Analysis, Seyed Maroufi, Mohammad Fallahi, Muhammad Waqas, Othman Bin-Alamer, Manisha Koneru, Joanna Roy, Jane Khalife, Hamza Shaikh, Daniel Tonetti

Department of Neurosurgery Faculty Papers

OBJECTIVES: The performance of the Pipeline Embolization Device (PED) and relatively newer double-layered Flow Re-Direction Endoluminal Device (FRED) have been studied for the treatment of intracranial aneurysms, but direct comparisons between PED and FRED are limited. The current systematic review aims at comparing the efficacy and safety of PED and FRED.

METHODS: A systematic review of the literature was conducted according to the PRISMA guideline. PubMed, Embase, Scopus, Web of Science, and Cochrane Library were searched, and related records were identified. A meta-analysis of double-arm studies comparing PED and FRED was conducted on angiographic and clinical outcomes, retreatment rates, and …

Acoustic And Hemodynamic Analysis Of Phantoms: Roughness And Flow Dynamics, Ethan Erik Olof Sundberg

Master's Theses

The purpose of this study was to determine whether different vascular phantoms, with and without a surrogate arm, could serve as effective analogs to the human brachial artery for assessing endothelial dysfunction, an early indicator of cardiovascular disease, particularly atherosclerosis. Atherosclerosis is characterized by plaque buildup and endothelial damage, which precede more severe clinical events and are often detectable through changes in vascular function. A 40” water tower was used to simulate diastolic pressure, enabling water flow through each phantom. Strain gauge pressure transducers were placed at both ends of the phantoms to measure pressure drop, while a microphone captured …

Multiple Myeloma Presenting As An Ill-Defined Osteolytic Lesion Of The Mandibular Condyle: A Case Report And Literature Review, Connor Capobianco, Mariella Padilla, Jungsuk Cho, Lauren Levi

Department of Oral and Maxillofacial Surgery Faculty Papers

Osteolytic lesions of the mandibular condyle can represent a diverse range of differential diagnoses, including malignancies such as metastatic disease, Langerhans cell histiocytosis (LCH), osteosarcoma, chondrosarcoma, and multiple myeloma. This case report details a 40-year-old male with a 3-year history of right temporomandibular joint (TMJ) pain, initially misdiagnosed as temporomandibular disorder. Comprehensive imaging studies, including cone beam computed tomography (CBCT), maxillofacial computed tomography (CT), and brain magnetic resonance imaging (MRI), revealed extensive osteolytic lesions in the mandible, frontal bone, and cervical spine. A CT-guided biopsy confirmed the presence of a plasma cell neoplasm, leading to the diagnosis of multiple myeloma. …

Best Practices For A Competency-Based Curriculum In Critical Care Ultrasonography For Fellows, Paru Patrawalla, Frances West, Navitha Ramesh, Paul Mayo, Amik Sodhi

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

New guidelines from the Accreditation Council on Graduate Medical Education for critical care ultrasound (CCUS) training went into effect on July 1, 2024, for critical care medicine and combined pulmonary and critical care medicine fellows. Fellowship programs will need to ensure that their fellows demonstrate competence in skills that are essential to CCUS, which currently encompasses applications in basic cardiac, lung/pleural, abdominal, and vascular ultrasonography (US). This may be a challenge for fellowship programs that have nascent CCUS curricula and limited faculty expertise. In this Perspective, we share expert and evidence-based recommendations on how to implement a competency-based curriculum in …

Surveying Management Strategies For Pediatric Autoimmune Hepatitis, Lillie Baca

University Honors Theses

Pediatric autoimmune hepatitis (PAIH) is a long-term condition that requires ongoing treatment and regular monitoring. It is characterized by its elevation of liver enzymes, interface hepatitis, and the specific presence of circulating autoantibodies. There is a general lack of consensus on appropriate measures of diagnostic criteria, treatment medication, and beneficial practices for monitoring the disease. The existing literature contains several subtle discrepancies that challenge a practitioner's judgement for care management of children with autoimmune hepatitis. This study is a retrospective chart review aimed at understanding the current diagnostics, treatment, and long-term management strategies of PAIH at a single center. Also, …

Cervical, Breast, And Colorectal Cancer Screening Outcomes Among Refugees In Philadelphia, Pennsylvania, Colleen Payton, Nina Kvaratskhelia, Melanie Chalfin, Jessica Deffler, Marc Altshuler

Department of Family & Community Medicine Faculty Papers

Cancer screening can detect cancer at an early stage and decrease cancer morbidity and mortality. Refugee populations may have had limited access to cancer screening before arrival in the United States. A cross-sectional analysis of cervical, breast, and colorectal cancer screening was conducted among refugees with primary care visits between 2018 and 2022 at a refugee health clinic in Philadelphia, Pennsylvania. Cancer screening outcomes included the number and type of screenings; the number of normal, inconclusive, and abnormal screening results; completion of follow-up tests for inconclusive and abnormal results; and the number of cancer diagnoses. Among 149 refugee women aged …

A Scoping Review On The Integration Of Artificial Intelligence In Point-Of-Care Ultrasound: Current Clinical Applications, Junu Kim, Sandhya Maranna, Caterina Watson, Nayana Parange

Research outputs 2022 to 2026

Background: Artificial intelligence (AI) is used increasingly in point-of-care ultrasound (POCUS). However, the true role, utility, advantages, and limitations of AI tools in POCUS have been poorly understood. Aim: to conduct a scoping review on the current literature of AI in POCUS to identify (1) how AI is being applied in POCUS, and (2) how AI in POCUS could be utilized in clinical settings. Methods: The review followed the JBI scoping review methodology. A search strategy was conducted in Medline, Embase, Emcare, Scopus, Web of Science, Google Scholar, and AI POCUS manufacturer websites. Selection criteria, evidence screening, and selection were …

Pre-Amplification Of Cell-Free Dna: Balancing Amplification Errors With Enhanced Sensitivity, Wei Yen Chan, Ashleigh Stewart, Russell J. Diefenbach, Elin S. Gray, Jenny H. Lee, Richard A. Scolyer, Georgina V. Long, Helen Rizos

Research outputs 2022 to 2026

Circulating tumour DNA (ctDNA) is a promising biomarker for personalised oncology. However, its clinical utility is limited by detection sensitivity, particularly in early-stage disease. T-Oligo Primed Polymerase Chain Reaction (TOP-PCR) is a commercial amplification approach utilising an efficient “half-adapter” ligation design and a single-primer-based PCR strategy. This study evaluated the clinical value and application of cell-free DNA (cfDNA) pre-amplification. cfDNA amplification with TOP-PCR preserved DNA size profiles and resulted in a 22 bp size increase due to the half-adaptor ligation. Gene target amplification rates varied, showing lower efficiency for the GC-rich TERT promoter amplicon and higher efficiency for the BRAF …

Integrating Radiogenomics And Machine Learning In Musculoskeletal Oncology Care, Rahul Kumar, Kyle Sporn, Akshay Khanna, Phani Paladugu, Chirag Gowda, Alex Ngo, Ram Jagadeesan, Nasif Zaman, Alireza Tavakkoli

Department of Medicine Faculty Papers

Musculoskeletal tumors present a diagnostic challenge due to their rarity, histological diversity, and overlapping imaging features. Accurate characterization is essential for effective treatment planning and prognosis, yet current diagnostic workflows rely heavily on invasive biopsy and subjective radiologic interpretation. This review explores the evolving role of radiogenomics and machine learning in improving diagnostic accuracy for bone and soft tissue tumors. We examine integrating quantitative imaging features from MRI, CT, and PET with genomic and transcriptomic data to enable non-invasive tumor profiling. AI-powered platforms employing convolutional neural networks (CNNs) and radiomic texture analysis show promising results in tumor grading, subtype differentiation …

Cardiac Amyloid, The Great Imitator, Nolan R. Fox, Nicholas J. Fox, Emily Newman, Brian Osler, Eugene Storozynsky

Division of Cardiology Faculty Papers

BACKGROUND: Although endomyocardial biopsy (EMB) is the criterion standard for diagnosis of infiltrative cardiac disease, cardiac sarcoidosis (CS) or cardiac amyloid can be diagnosed noninvasively through both clinical suspicion and advanced imaging techniques of cardiac magnetic resonance imaging (CMR) or cardiac positron emission tomography (PET).

CASE SUMMARY: A 79-year-old man with mediastinal sarcoidosis presented with new chest pain and a right bundle branch block, raising concern for CS. CMR and cardiac PET also supported the diagnosis of CS, but EMB ultimately revealed transthyretin amyloid cardiomyopathy. The patient was started on tafamidis and showed improvement at 1-year follow-up.

DISCUSSION: This case …

Imaging Hallmarks Of Idiopathic Intracranial Hypertension And Insights Into Pathogenesis, Albalooshy Basimah, Scott Faro, Hsiangkuo Yuan, Kiran Talekar, Prabath Mondel, Enchao Qiu, Joga Chaganti

Department of Radiology Faculty Papers

Idiopathic Intracranial hypertension (IIH), also referred to as pseudotumor cerebri, is a term used to describe increased intracranial pressure in the absence of a known identifiable secondary cause. Despite advancements of neuroimaging techniques, imaging of the pathological underpinnings in the diagnosis of IIH has been limited. Although the causation of IIH has been ascribed to increased Cerebrospinal Fluid production and disordered drainage through the dural sinuses, new evidence shows that the glymphatic system which is an alternate pathway of drainage is likely to play a pivotal role. In this review, we address the pathophysiological underpinnings in the causation of IIH …

Impact Of Diagnosis To Treatment Interval On Outcomes In Patients With Newly Diagnosed Marginal Zone Lymphoma - A Us Multisite Study, Narendranath Epperla, Geoffrey Shouse, Natalie Grover, Pallawi Torka, Kaitlin Annunzio, Marcus Watkins, Andrea Anampa-Guzmán, Beth Christian, Colin Thomas, Md, Stefan Barta, Praveen Geethakumari, Reem Karmali, Nancy Bartlett, Adam Olszewski

Department of Medicine Faculty Papers

Diagnosis-to-treatment interval (DTI) is an important prognostic factor in patients with newly diagnosed aggressive lymphomas, however the impact of DTI on outcomes in marginal zone lymphoma (MZL) is unknown. In this multicenter retrospective cohort study, we included adult patients with MZL who received first-line immunochemotherapy within 120 days of diagnosis at 10 US medical centers. Patients who received treatment within 60 days from their diagnosis were classified into the short DTI group and those who received treatment beyond 60 days into long DTI group. The primary objective was progression-free survival (PFS), while secondary objectives included overall survival (OS) and cumulative …

Cervical Cancer Screening Overuse Among Women With And Without Disability In The U.S. From 2007 To 2016, Preeti Zanwar, Chan Shen, Matthew Smith

College of Population Health Faculty Papers

INTRODUCTION: Persons with disability, a recognized health disparity population with complex care needs, may be at risk for cervical cancer screening overuse. However, limited studies have examined cervical cancer screening overuse among women with and without disability using large nationally representative survey data. Among women with and without disability, the authors aimed to provide national estimates of cervical cancer screening overuse and the proportion of cervical cancer screening overuse among younger, middle-age, and older women.

METHODS: The authors first utilized the U.S. Preventive Services Task Force guidelines to conceptualize and define cervical cancer screening overuse for women with and without …