Pathological Conditions, Signs and Symptoms Commons^™

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 …

Delayed Diagnosis Of Systemic Lupus Erythematosus Presenting As Autoimmune Hemolytic Anemia: A Case For Heightened Clinical Suspicion, Diana Acosta Pozo, Luis Álvarez Pérez

Research Colloquium

Background: Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease characterized by multisystem involvement, including hematologic manifestations. Autoimmune Hemolytic Anemia (AIHA), though an established feature, is relatively uncommon and may occur early or in isolation. When AIHA presents without overt systemic symptoms, the underlying autoimmune etiology may be overlooked, resulting in delays in diagnosis and treatment. Prompt recognition is essential to prevent unnecessary interventions and prolonged morbidity.

Case Presentation: A 39-year-old woman residing in Texas presented to the Rheumatology office with persistent synovitis and severe transfusion-dependent anemia, requiring red blood cell transfusions every 48 hours for over three months. She …

A Puzzling Case Of Visual Disturbances Leads To A Fatal Neurodegenerative Diagnosis, Courtney J. Austin, Aaron Carrillo, Jennifer Rojas Huen, Victoria Parada

Research Colloquium

Background: Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative disease in which early diagnosis is complicated by the presence of early non-specific and atypical presentations. Sporadic CJD (sCJD), the most common type of CJD, is caused by the spread of a disease-forming prion known as PrPSc. PrPSc multiplies and binds to the normal form of prion, or PrP, converting it to an abnormal, structurally altered disease form that spreads throughout the brain. sCJD can initially present with six different phenotypes: cognitive, affective, classic, visual (Heidenhain variant), atactic (Oppenheimer-Brownell variant), and indeterminate. The classic presentation of CJD includes rapidly progressive dementia with …

Targeting Ribosome Biogenesis Is A Novel Approach For The Management Of Pancreatic Cancer, Mudassier Ahmad, Haider Ahsan, Carlos Perez, Muhammad Bangash, Andrew Massey, Emmanuel Anning, Manish Tripathi, Dae Kim, Subhash C. Chauhan, Bilal Bin Hafeez

Research Colloquium

Pancreatic ductal adenocarcinoma is the third leading cause of cancer-related deaths in the United States with limited therapeutic options available. Gemcitabine, a deoxycytidine nucleoside analog is currently considered the most effective therapy for PanCa. However, it shows only a marginal survival benefit of six months. Aberrant ribosome biogenesis occurs in most tumor types. We observed that PanCa cells are addicted to ribosome biogenesis, which supports their highly aggressive metastatic phenotypes. Thus, strategically targeting ribosome biogenesis process could be one of the ideal strategies for the prevention and treatment of PanCa. In this study, we elucidated the molecular mechanisms of POLR1A …

Breaking Boundaries: Unveiling A Cardiac Fistula From The Right Coronary Artery To The Sinus Venosus And From The Sinus Venosus To The Left Subclavian; A Singular Encounter, Maria Eugenia Torres Perez, Carlos Luis Alejos, Jose Romeo Villareal Calderon, Jennifer Rojas Huen, Kamesh Sivagnamam

Research Colloquium

Introduction: Coronary artery fistulas are rare congenital or acquired malformations in the coronary circulation, creating abnormal connections between coronary arteries and heart chambers (coronary-cameral fistulas) or systemic/pulmonary vessels (coronary arteriovenous malformations). Although often asymptomatic and discovered incidentally during coronary catheterization, they can lead to life-threatening complications such as congestive heart failure, myocardial infarction, and pulmonary hypertension.

Case presentation: A 47-year-old patient with hypertension, multiparity and previous history of a large pericardial effusion with cardiac tamponade managed with pericardiocentesis and medical management presented to the emergency department one year after her pericardiocentesis complaining of shortness of breath (SOB) and upper back …

Unveiling The Impact Of Phosphate On Skeletal Muscle Dysfunction In Chronic Kidney Disease, Hiram Garcia, Sowmya Duddu, Erik Hinojosa, Model Zerfu, Nathaniel L. Alvarez, Mohammad Razzaque, Alex Zuo

Research Colloquium

Background: Chronic Kidney Disease (CKD) is characterized by progressive decline in renal function that ultimately culminates in the inability of the kidneys to effectively maintain homeostasis. The kidneys are a key regulator of phosphate, with other organs assisting in regulation including the skeletal system. In CKD, reduced kidney function leads to hyperphosphatemia. While its impact on the skeletal system is moderately studied, its effects on skeletal muscle are less reviewed. In our literature review, we aim to describe the effects of phosphate in the context of patients who have CKD while providing clinical context for this deserving population. We describe …

Subacute Combined Degeneration Due To Nitrous Oxide-Induced Vitamin B-12 Deficiency, Jorge Nadal, Daniela Hernandez, Brandon Cantazaro

Research Colloquium

Background: Nitrous oxide also known as “laughing gas” is a naturally occurring gas that is colorless, odorless, nonflammable, and nontoxic. It has been used as an inhalant anesthetic in the medical field for more than 150 years for dental and surgical procedures. Due to its wide availability and ability to cause euphoria, recreational use is on the rise.1 Here, I will present a case of subacute combined degeneration in the setting of nitrous oxide induced vitamin B-12 deficiency.

Case presentation: 23-year-old right-handed gentleman with no past medical history presented to the ED complaining of 1 week of bilateral lower extremity …