Pathological Conditions, Signs and Symptoms Commons^™

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. …

Diagnostic Trends And Service Enhancements In Deaf Mental Health: A Longitudinal Analysis, Kent Schafer, Steve Hamerdinger, Frank Wu, Rie Sakai Bizmark, Charlene Crump

JADARA

A longitudinal study investigated mental health diagnostic trends and patterns among Deaf and Hearing individuals using a comprehensive dataset from Alabama Department of Mental Health spanning 2004-2024 (Deaf=4,547; Hearing=2,056,188). Chi-square analysis revealed significant proportional differences in diagnoses between the groups. Deaf individuals showed significantly higher proportions of psychotic (12.93% vs. 8.33% Hearing), mood (20.76% vs. 18.84% Hearing), and personality (0.58% vs. 0.43% Hearing) disorders. These findings suggest that increased access to specialized and competent mental health services for individuals who are Deaf, particularly following the increase of staffing patterns for the Office of Deaf Services in 2015,contributed to more accurate …

Diagnostic Accuracy Of Cerebral Amyloid Angiopathy Criteria In The First Pathologically Confirmed Thai Cohort: A Pilot Study, Thanapoom Taweephol, Thachamai Smitasiri, Thanakit Pongpitakmetha, Sekh Thanprasertsuk, Anand Viswanathan

Chulalongkorn Medical Journal

Background: The gold standard for diagnosing cerebral amyloid angiopathy (CAA), full brain post-mortem examination, is rarely performed. Current diagnostic criteria, primarily based on clinico-radiological features, were developed from Western populations and may have limited applicability to Asian populations.

Objective: We aimed to evaluate the accuracy of current diagnostic criteria and examine the clinico-radiological characteristics of Thai CAA patients.

Methods: Brain histopathological specimens from patients with clinical symptoms of CAA who underwent neurosurgical procedures, including intracerebral hemorrhage (ICH) evacuation, between 2011 and 2021 at King Chulalongkorn Memorial Hospital, Thailand, were reviewed. Patient characteristics and clinical events for each individual were retrospectively …

Rapid Diagnosis Of Hemorrhagic Shock Due To Upper Gi Bleeding With Point-Of-Care Ultrasound In The Emergency Department, Tamari Ronen, Derrick Huang

Gulf Coast Division GME Research Day 2026

No abstract provided.

Cholecystocolonic Fistula: Ct Diagnosis And Confirmation On Hida Scan, Adam Webb, John T. Belflower, Brian Helmly

South Atlantic Division GME Research Days 2026

No abstract provided.

Dual-Level Pattern Tree For Visual Field Improves Glaucoma Progression And Polygenic Risk Prediction, Luo Song, Lucy Q. Shen, Louis R. Pasquale, Michael V. Boland, Sarah R. Wellik, Carlos Gustavo De Moraes, Ayellet Segre, Janey L. Wiggs, Constance Turman, Jonathan S. Myers, Tobias Elze, Nazlee Zebardast, David S. Friedman, Jae H. Kang, Mengyu Wang

Wills Eye Hospital Papers

PURPOSE: To develop a dual-level pattern tree to characterize visual field (VF) loss subtypes that can be used to better predict glaucoma progression and glaucoma polygenic risk scores (PRSs).

METHODS: This study included 113,030 patients from three datasets, each used for a specific purpose: (1) model training, (2) progression forecasting, and (3) PRS correlations. We applied archetypal analysis to cluster 24-2 VFs into trunk patterns and their branch patterns. The Cox regression model was used to forecast VF progression using mean deviation (MD) slope, MD-fast slope, total deviation (TD) pointwise slope, and visual field index (VFI) slope. Multivariable regression analyses …

Outcomes Of Relapse After Teclistamab Therapy In Multiple Myeloma, Kyle L. Yu, Matthew Ho, Luca Paruzzo, Federico Stella, Heta Patel, Zainul S Hasanali, Shivani Kapur, Adam J. Waxman, Dan T. Vogl, Edward A. Stadtmauer, Joseph A. Fraietta, Marco Ruella, Adam D. Cohen, Alfred L. Garfall, Sandra Susanibar-Adaniya

Student Papers, Posters & Projects

No abstract provided.

The Importance Of Treating Migraine Attacks Early - Even In Youth: A Real-World Argument For Neuromodulation, Mario F. P. Peres, Hsiangkuo Yuan, Cristina Tassorelli

Department of Jefferson Headache Center Papers and Presentations

No abstract provided.

Septic Arthritis And Abscess Of The Temporomandibular Joint, Frank Rizzuto, Abdul Khan, Jagan D. Gupta, Neel D. Gupta, Triet M. Do, Enrique Palacios

School of Medicine Faculty Publications

No abstract provided.

Migraine-Related Disability According To Headache Frequency Subclassifications: A Systematic Review And Meta-Analysis, Manjit Singh Matharu, Stephen Silberstein, Hsiangkuo Yuan, Deborah Edgar, Roos Colman, Todd Schwedt, Michel Lanteri-Minet, Mark Obermann

Department of Jefferson Headache Center Papers and Presentations

BackgroundThis systematic review and meta-analysis synthesized migraine-related disability outcomes according to headache frequency subclassifications, including low-frequency episodic migraine (LFEM), high-frequency episodic migraine (HFEM) and chronic migraine (CM).MethodsWe searched the PubMed and Cochrane Library (CENTRAL) up to 16 October 2024 for peer-reviewed non-interventional studies reporting migraine-related disability outcomes in CM and subclassifications of episodic migraine (e.g. LFEM and HFEM). Eligible studies with an HFEM subgroup were grouped by headache frequency measure (monthly migraine days [MMD] or monthly headache days [MHD]), HFEM subgroup, disability parameter and study setting. Random-effects meta-analyses were conducted on groups with three or more studies, with the results …

Association Of Estimated Plasma Volume Status With Invasive Hemodynamics And Adverse Clinical Outcomes In Patients With Pulmonary Hypertension And Chronic Kidney Disease, Andrew Geller, Jose Manuel Martinez Manzano, Esteban Kosak Lopez, Phuuwadith Wattanachayakul, John Malin, Raul Leguizamon, Tara John, Rasha Khan, Ian Mclaren, Alexander Prendergast, Simone Jarrett, Kevin Bryan Lo, Christian Witzke

Einstein Health Papers

Identifying noninvasive measures to assess intravascular volume status and risk stratify patients with pulmonary hypertension (PH) and chronic kidney disease (CKD) is needed. We assessed the predictive value of estimated plasma volume status (ePVS) using the Strauss-derived Duarte formula in PH-CKD patients. This single-center retrospective cohort analysis included patients with PH and CKD Stage 3b (CKD3b), Stage 4 (CKD4), or Stage 5 (CKD5) who underwent right heart catheterization from 2018 to 2023. Patients were categorized into low ePVS (< 6.2) and high ePVS (≥ 6.2) using Youden's J statistics. We used the Cox-proportional hazards model, adjusting for age, sex, and body mass index, to investigate the association between …

Corticobasal Syndrome With Mixed Pathology In The Absence Of Grn Mutation: A Clinico-Pathological Case Of Ftld-Tdp With Coexisting Alzheimer’S And Lewy Body Pathology, Hugo Zamarron, David Irwin, Jeffery Phillips, Edward Lee, Matthew Tisdall, Corey Mcmillan

Research Colloquium

Background: Corticobasal syndrome (CBS) is a neurodegenerative disorder characterized by often asymmetric fronto-pariteal and extra-pyramidal features that is traditionally associated with tauopathy, but pathological findings are heterogenous, including other forms of frontotemporal lobar degeneration (FTLD) and mixed pathologies of aging. We present clinical, radiographic, and histopathologic features of asymmetry in a unique patient with CBS and underlying FTLD with TDP-43 pathology (FTLD-TDP), co-occurring with other age-related pathologies.

Case Presentation: A 76-year-old man presented with progressive cognitive and motor dysfunction including asymmetric parkinsonism, left-sided dystonia and rigidity, apraxia, visuospatial impairment, and a subtle social disorder including apathy and social withdrawal. The …

Biofluid Biomarkers Aid In Diagnosing And Developing Improved Treatments For People With Alzheimer's Disease, Jonatan A. Lopez

University Honors Theses

Dementia is a disease in which daily life is disrupted by a loss of cognitive function. Late-onset Alzheimer's disease (AD) is the most common dementia that largely begins to affect individuals in their mid 60s or older. AD was selected as the focus of this paper because it is the most common form of dementia, accounting for 50-70% of dementia cases. A typical diagnostic approach used by physicians starts with a simple clinical test, the Mini-Mental State Examination (MMSE), when cognitive decline is suspected in a patient. Then if there is enough evidence to suggest AD, a physician would order …

Refinement Of Hyams Grading Criteria For Olfactory Neuroblastoma In An Endoscopic Sinus Surgery Predominant Cohort With Extended Follow-Up: Worth The Effort?, Stacey Gargano, Vincent Cracolici, Carl Snyderman, Eric Wang, Garret Choby, Aron Pollack, Paul Gardner, Diana Bell, Raja Seethala

Computational Medicine Center Faculty Papers

BACKGROUND: Hyams grading is considered prognostic in olfactory neuroblastoma (ONB), but grading criteria are subjective and predate modern classification and surgical approach. We evaluate the application of granular grading criteria to an endoscopic surgery predominant cohort with extended follow-up.

METHODS: 78 ONB patients were identified (1994-2019) with original diagnoses dating to 1979. Original Hyams grade, Modified Hyams grade incorporating more detailed criteria and other histologic features (i.e. divergent differentiation, clear cell/oncocytic change, and spindling) were assessed if feasible, evaluated for distribution by grade and correlated with outcomes.

RESULTS: Original Hyams grade (n = 43) distribution was: I: 4 (9%), II: …

Disseminated Diaper Dermatitis With Concomitant Body Rash: A Case Report., Catherine F Alapatt, Eileen Condren, Tanya Kadrmas-Iannuzzi

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Diaper dermatitis is a rash typically localized to the genital area and may have various etiologies, including irritant and allergic contact dermatitis. In most cases, it resolves on its own with minimal to no medical intervention, and when treatment is necessary, it usually responds promptly. Here, we present a prolonged case of diaper dermatitis accompanied by a nearly full-body rash that was resistant to initial treatment with steroids, antibiotics, and antifungals.

Plane Xanthoma, Connor A. Sheehan, Theresa N. Tran, Jason B. Lee, Jeffrey Y. Liu, Sylvia Hsu

Department of Dermatology and Cutaneous Biology Faculty Papers

No abstract provided.

Optimal Diagnostic Strategies For Concussion-Related Vision Disorders: A Review, Iniya K. Adhan, Kammi B. Gunton

Wills Eye Hospital Papers

Concussions are a mild form of traumatic brain injury (TBI) that is typically self-limited and transient with a high prevalence within our communities. Due to the vast visual network interconnectivity, visual symptoms secondary to a concussion occur about 90% of the time. A gold standard to confirm concussion acutely has not been well established. Visual function testing based on symptoms remains the standard of care in off-site evaluation for diagnosis of oculomotor dysfunction. This review covers the current diagnostic strategies for vision based disorders post-concussion for sideline testing, off-site testing, and research driven testing.

Pancreatic Ascites: Update On Diagnosis And Management, Lefika Bathobakae, Heba Farhan, Derya Mücahit, Dina Rohira, Kashyap Chauhan, Yana Cavanagh, Walid Baddoura, Derick J Christian

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Pancreatic ascites is a rare condition characterized by the accumulation of high-amylase ascitic fluid in the peritoneal cavity. This condition is often associated with chronic pancreatitis, pancreatic trauma, or pseudocyst rupture. Because of its rarity and ill-defined clinical presentation, pancreatic ascites is often a diagnostic and therapeutic challenge in clinical practice. The current diagnostic criteria include an amylase level >1000 mg/dL, a protein level >3 g/dL, and a serum ascites albumin gradient < 1.1 g/dL. The clinical features vary, but may include progressive abdominal distension, diffuse abdominal pain, weight loss and peritonitis. The management of pancreatic ascites remains controversial, and there is no consensus regarding the optimal approach. Conservative medical management, which includes nutritional support, pain control, therapeutic paracentesis and the use of somatostatin analogs, has been associated with a high failure rate and significant morbidity. Interventional therapies, such as surgery and endoscopic transpapillary stenting, have shown more promising outcomes. However, the choice between these methods is still debated, with some advocating for endoscopic approaches, because of their minimally invasive nature and reduced morbidity compared with surgical options. Endoscopic approaches remain underutilized in practice, probably because of the need for repeated interventions, the potential risks associated with endoscopic retrograde cholangiopancreatography, or a lack of skilled personnel. Although they show significant perioperative morbidity and mortality, surgical options provide definitive resolution of pancreatic ascites. Herein, we provide an updated review of pancreatic ascites, highlighting advances in diagnostic techniques and therapeutic approaches, and summarizing insights from recent clinical cases and retrospective studies.

Efficacy Of Neuromuscular Ultrasound In Diagnosing And Treating A Mammogram-Induced Brachial Plexus Injury-A Case Report, Jaime Dougherty, Tyler Pigott, Altamash E Raja

Rowan-Virtua School of Osteopathic Medicine Departmental Research

A 40-year-old woman presented with chronic left anterior shoulder, upper arm, and axillary pain following a routine mammogram 3 years prior. Despite multiple interventions, her pain persisted significantly affecting her quality of life. Ultrasound examination revealed fascicular edema in the medial brachial cutaneous nerve (MBCN), intercostobrachial cutaneous nerve (ICBN), and a positive sono-Tinel. Ultrasound-guided hydrodissection of these nerves provided complete axillary pain relief and significant improvement in anterior arm pain, sustained for 6 months. This case highlights the diagnostic challenges of cutaneous nerve entrapment syndromes, often overlooked and misdiagnosed, especially without a clear inciting injury. Ultrasound proves superior to electrodiagnostic …

The Effective Utilization Of Artificial Intelligence (Ai) In Early Melanoma Detection, Svetlana Filiche

Rowan-Virtua Research Day

Background:

Melanoma, while comprising only 1% of skin cancer cases, accounts for a high mortality rate due to its ability to metastasize if not detected early. Traditional face-to-face dermatologic evaluations provide limited access to care, resulting in delayed diagnoses.

Significance:

Artificial Intelligence (AI) offers a novel approach to improve diagnostic accuracy and accessibility by alleviating strain on healthcare resources in medically underserved areas.

Methods:

A literature review was conducted using studies published in the last ten years. Eligible resources included case reports, clinical studies, clinical trials, meta-analyses, reviews, and systematic reviews in English. Studies that were repetitive or inapplicable were …

Ultrasonographic Appearance Of Suspected Zinner Syndrome, Wen Hao Luo, Jared Garfinkle, Jack Hennen, Robert Martin, Kathleen Deiling

Rowan-Virtua Research Day

Zinner syndrome (ZS) is a rare congenital condition characterized by the triad of unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ipsilateral ejaculatory duct obstruction. ZS is suspected to be caused by the malformation of the mesonephric duct during embryogenesis. The incomplete migration of the ureteric bud results in ipsilateral renal agenesis and ejaculatory duct obstruction. The remaining gonad develops with inadequate seminal fluid drainage, leading to the formation of seminal vesicle cysts. ZS is often asymptomatic, leading to challenges in diagnosis, particularly in adolescents. Symptoms can include pain, dysuria, pollakisuria, perineal pain, epididymitis, and pain after ejaculation. Imaging plays …

Igg4-Related Autoimmune Pancreatitis In Patients With Prior Occupational Exposure: A Case Report And Review Of Risks Concerning Blue-Collared Workers, Zachary A. Coren, Justin Le, Jason Tran, Nicholas Moscardelli, Krish Patel, Joshua Coren

Rowan-Virtua Research Day

Autoimmune pancreatitis (AIP), a manifestation of IgG4-related disease (IgG4-RD), is a rare, often misdiagnosed condition that can closely mimic pancreatic cancer, particularly in its clinical and radiographic presentation. We report the case of a 76-year-old retired plumber who presented with painless jaundice and was initially suspected to have pancreatic cancer based on imaging findings. Subsequent endoscopic evaluation, biopsy, and markedly elevated serum IgG4 levels led to a diagnosis of type 1 AIP. Treatment with corticosteroids resulted in rapid clinical improvement and reduction in IgG4 levels, confirming the diagnosis.

This case highlights the diagnostic challenges of AIP, especially among blue-collar workers …

Enhancing Diagnostic Accuracy In Dyspnea: The Role Of Ai-Enhanced Ecg Interpretation, Sami Asif, Ayesha Mushtaq

Rowan-Virtua Research Day

Dyspnea is a frequent and diagnostically challenging presentation in emergency departments, requiring rapid distinction between cardiac and non-cardiac causes. Traditional approaches, including NT-proBNP testing and clinical assessment, often lack optimal sensitivity and specificity. Recent advancements in artificial intelligence (AI) have introduced AI-enhanced electrocardiogram (ECG) analysis as a promising diagnostic tool capable of identifying cardiac dysfunction with high accuracy.

A structured literature review was performed using PubMed to identify randomized controlled trials, prospective validations, and systematic reviews published between 2018 and 2024. Studies evaluating AI-ECG performance, NT-proBNP testing, and clinical assessment in adult patients presenting with dyspnea were included. Data extracted …

Case Report: A Case Of Transient Dress Syndrome (Drug Rash With Eosinophilia And Systemic Symptoms), Dip Patel, James Espinosa, Alan Lucerna

Rowan-Virtua Research Day

We report a case of a 41-year-old female with a history of hypertension who presented with fever and a diffuse erythematous rash after taking trimethoprim-sulfamethoxazole (TMP-SMX) for an ear infection. Due to her symptoms, mild eosinophilia, and elevated liver function tests, Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) was suspected. Although the patient’s rash had resolved by the time of initial evaluation, it recurred overnight, reinforcing suspicion for DRESS syndrome. TMP-SMX was discontinued, and acetylcysteine was administered due to the patient’s high-dose use of acetaminophen in the days prior to her hospital presentation. Infectious and autoimmune workups were negative. …

A Case Of Choledocholithiasis In A Patient With A Recent History Of Hellp Syndrome And Pre-Eclampsia, Akhil Tumpudi

Rowan-Virtua Research Day

Jaundice in a patient presenting to the emergency department (ED) can be indicative of a range of conditions, and it's important to determine the underlying cause for proper management. Here we describe a case of an unusual presentation of choledocholithiasis in a 25-year-old female with a recent history of HELLP and preeclampsia.

Case Report And Brief Review: Hypoglycemic Hemiplegia As A Stroke Mimic, Joel Collins Ii, James A. Espinosa, James Lee, Alan Lucerna

Rowan-Virtua Research Day

Here we present the case of a 47-year-old male with a history of diabetes mellitus (DM), who was brought to the emergency department with right sided hemiparesis and slurred speech. His blood sugar was 37 mg/dL. An intravenous line was established quickly, and the patient was administered intravenous dextrose. Within five minutes, his symptoms had significantly improved and by 10 minutes had resolved completely. A CT head and CT angiogram of the head and neck were within normal limits. Basic laboratory tests were within normal limits. The initial neurology service consult noted that his diagnosis was hypoglycemic hemiplegia. The patient …

Cannabinoid Hyperemesis Syndrome Induced Pneumomediastinum In An Adolescent, Julian Coz, Christopher Schwartz, James Espinosa, Alan Lucerna

Rowan-Virtua Research Day

Cannabinoid hyperemesis syndrome (CHS) is a condition characterized by cyclic episodes of severe nausea, vomiting, and abdominal pain in individuals with chronic cannabis use. Despite its increasing recognition, CHS remains underdiagnosed, particularly in adolescents, and can be associated with a range of complications, some of which are potentially life-threatening. One such complication is spontaneous pneumomediastinum (SPM), a rare but serious condition where air accumulates in the mediastinum without any clear traumatic cause. Although SPM is typically benign, it can present with significant respiratory distress and requires prompt identification and management. Here we present the case of an 18-year-old patient with …

Recognizing Pseudohypobicarbonatemia In Patients With Hypertriglyceridemia - A Case Report, Alisha Vincent, Mohamad Hammad, Brian Clayton

Rowan-Virtua Research Day

Pseudohypobicarbonatemia is a laboratory artifact in which severe hypertriglyceridemia interferes with enzymatic bicarbonate measurements, leading to falsely low levels that can mimic metabolic acidosis. We present a case of a patient with diabetes and hyperlipidemia who was initially found to have profound hypobicarbonatemia and an elevated anion gap, raising concerns for metabolic acidosis. However, arterial blood gas analysis revealed a normal acid-base status, prompting further investigation and identification of severe hypertriglyceridemia (>1100 mg/dL) as the underlying cause. This case highlights the diagnostic challenges posed by hypertriglyceridemia-induced lab errors and underscores the importance of confirming suspected metabolic acidosis with arterial …

Case Report: An Unexpected Case Of Spinal Cord Infarction, Julian Coz, Brittany Fera

Rowan-Virtua Research Day

We report a case of an 89-year-old male who presented to the emergency department with acute bilateral lower extremity weakness after physical exertion. His clinical examination revealed paraplegia, and imaging studies suggested spinal cord infarction (SCI) secondary to presumed atherosclerotic embolism, despite the absence of traditional cardiovascular risk factors. The differential diagnosis for acute paraplegia in the elderly is broad, including conditions like stroke, spinal cord compression, transverse myelitis, and tick paralysis. This case highlights the diagnostic challenges of SCI, particularly when the patient lacks overt risk factors for vascular disease. Despite aggressive management, including permissive hypertension and anticoagulation, the …

Case Report: Cold Urticaria Diagnosed In The Emergency Department, Philip Carhart, James Espinosa, Alan Lucerna

Rowan-Virtua Research Day

Cold urticaria can be primary (idiopathic) or can be due to underlying hematologic or infectious diseases. Here we present the case of a young female patient with no past medical history who was diagnosed with cold urticaria in the emergency department setting, using a cold stimulation test. Most cases are idiopathic. The reaction can be triggered in individual cases by exposure to cold objects or to generalized cold ambient temperatures, as was the case in the patient presented here. The physical response is most commonly pruritic wheals (urticaria). However, more severe symptoms may occur up to angioedema with hoarseness and …