104 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... inborn errors of metabolism ... of information: Pediatrics ... , UpToDate #Pediatrics ... #Genetics #Pathophysiology
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
Metabolism of plasma ... lipoproteins and related genetic ... hypercholesterolemia #pathophysiology ... #metabolism #lipoproteins ... #genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... cardiology #peds #pediatrics
Causes of Rhabdomyolysis - Differential Diagnosis
 • Drugs & Toxins (Statins, alcohol, cocaine)
 • Direct Muscle
malignant neuroleptic syndrome ... (myositis) • Metabolic ... hypothyroidism) • Genetic ... enzymes or lipid metabolism
Carcinoid Syndrome - Pathophysiology, Signs and Symptoms
Symptoms: Flushing, diarrhea, palpitations, bronchospasm
Complications: Carcinoid heart, mesenteric fibrosis, pellagra,
Carcinoid Syndrome ... - Pathophysiology ... , Signs and Symptoms ... #Carcinoid #Syndrome ... #Pathophysiology
Pathophysiology of Polycystic Ovarian Syndrome (PCOS)
#Pathophysiology #PCOS #Polycystic #Ovarian #Syndrome #Symptoms
Pathophysiology ... Polycystic Ovarian Syndrome ... (PCOS) #Pathophysiology ... Polycystic #Ovarian #Syndrome ... #Symptoms
Pediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2 infection (PIMS-TS)
Clinical features
all: fever > 101.3 F
most: oxygen
Pediatric Inflammatory ... Multisystem Syndrome ... neck swelling #Pediatrics ... #Inflammatory #Syndrome ... diagnosis #Signs #Symptoms
Refeeding Syndrome: Pathogenesis and clinical findings

Patients at Risk of Refeeding Syndrome:
 - Little or no nutritional
Refeeding Syndrome ... • Incr Glucose Metabolism ... - Metabolic ... #diagnosis #pathophysiology ... #symptoms #signs