14 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Total Anomalous Pulmonary Venous Return (TAPVR)
 • Introduction
 • Classification
 • Pathophysiology of TAPVR
 • Presentation
Anomalous Pulmonary Venous ... Classification • Pathophysiology ... PVO Present • Diagnosis ... #management #cardiology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... Associated Genetic Syndromes ... Tetralogy #Fallot #diagnosis ... #management #cardiology ... #peds #pediatrics
Leukostasis vs Tumor Lysis Syndrome
Leukostasis:
 • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
Leukostasis: • Pathophysiology ... Dehydration • Symptoms ... : • Pathophysiology ... #TLS #diagnosis ... #management #hematology
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... chromosome 21) Signs / Symptoms ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Venous Thrombosis vs Arterial Thrombosis - Differential Diagnosis Framework

VENOUS THROMBOSIS

 • Acquired Risk Factors:
	- >48 hours
- Differential Diagnosis ... • Nephrotic Syndrome ... #Arterial #pathophysiology ... #hematology #differential ... #diagnosis #vascular
Behçet's Syndrome
Systemic disease associated with inflammation of multiple organs, small-vessel vasculitis and large-vessel vasculopathy
Epidemiology:
 • Young
meningitis), MCC CNS symptoms ... also involved), Venous ... ) Differential Diagnosis ... #signs #symptoms ... #rheumatology #
Differentiation Syndrome in APML
Epidemiology:
 • Incidence: common in APL (2-48% depending on the study)
 • Triggers:
Differentiation Syndrome ... ATRA treatment Pathophysiology ... : >3 symptoms, or ... Differentiation #Syndrome ... #management #hematology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Etiology: • Pathophysiology ... factor PRES Diagnosis ... Neurological symptoms ... Differential Diagnosis ... leukoencephalopathy, Cerebral venous
Cryofibrinogenemia Summary

Cryofibrinogenemia Epidemiology:
 • 40-70 years with a modest female predominance

Cryofibrinogenemia:
 • The precipitation of a
Cryofibrinogenemia Symptoms ... arterial and/or venous ... Cryofibrinogenemia Diagnosis ... Antiphospholipid syndrome ... #rheumatology #