13 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
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) 
An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. 
Affects
acute febrile vasculitic ... syndrome. ... Disease #Features #Signs ... #Symptoms #Diagnosis ... #Peds #Pediatrics
Henoch Schonlein Purpura 
Typically a young boy. Often occurs following upper respiratory tract infection. A systemic
A systemic vasculitis ... Schonlein #Purpura #Diagnosis ... #Peds #Pediatrics ... #Signs #Symptoms
Tetralogy of Fallot 

1. Right ventricular outflow tract obstruction 

2. Right ventricular hypertrophy 

3. Ventricular septal
Tetralogy #Fallot #Peds ... #Pediatrics #Cardiology ... #Signs #Symptoms ... #Diagnosis
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... Associated Genetic Syndromes ... Tetralogy #Fallot #diagnosis ... #management #cardiology ... #peds #pediatrics
Systemic Lupus Erythematosus: Gastrointestinal Manifestations
 - Thrombosis of vessels in the pancreas, Vasculitis -> Acute Pancreatitis
the pancreas, Vasculitis ... - Budd Chiari Syndrome ... Complications #pathophysiology ... #signs #symptoms ... #diagnosis
Pediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2 infection (PIMS-TS)

#PIMSTS #Pediatrics #Inflammatory #Multisystem #Syndrome #Peds #Signs
Pediatric Inflammatory ... Multisystem Syndrome ... #Multisystem #Syndrome ... #Peds #Signs #Symptoms ... #Diagnosis
Total Anomalous Pulmonary Venous Return (TAPVR)
 • Introduction
 • Classification
 • Pathophysiology of TAPVR
 • Presentation
Classification • Pathophysiology ... PVO Present • Diagnosis ... Classic “snowman sign ... #management #cardiology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds ... #pediatrics