26 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 ... the lab values table ... #Genetics #Pathophysiology ... #Table #IEM #NICU
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
A table of lab ... from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Causes of Rhabdomyolysis - Differential Diagnosis
 • Drugs & Toxins (Statins, alcohol, cocaine)
 • Direct Muscle
Causes of Rhabdomyolysis ... malignant neuroleptic syndrome ... (myositis) • Metabolic ... hypothyroidism) • Genetic ... enzymes or lipid metabolism
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
Diabetes Insipidus vs Syndrome of Inappropriate ADH (SIADH) - Comparison Table

Diabetes Insipidus - Inadequate ADH
SIADH -
Diabetes Insipidus vs Syndrome ... ) - Comparison Table ... SIADH #Comparison #Table ... #Pathophysiology ... #Signs #Symptoms
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... cardiology #peds #pediatrics
Rhabdomyolysis - Differential Diagnosis and Management Summary

Trauma:
 • Immobilization, Crush iniury, Compartment syndrome, Electrical injury
Exertional:
 •
iniury, Compartment syndrome ... , Heat stroke, Metabolic ... Neuroleptic malignant syndrome ... Dermatomyositis) AKI - Pathophysiology ... per day until stable
Hypothyroid Myopathy
Very common (up to 80% ) in patients with hypothyroidism
Pathophysiology:
 • T4 deficiency leads to
hypothyroidism Pathophysiology ... mitochondrial oxidative metabolism ... hypertrophy → Rhabdomyolysis ... Hypothyroid #Myopathy #pathophysiology ... #signs #symptoms
Rhabdomyolysis - Differential Diagnosis Framework and Management Summary

Causes of Rhabdomyolysis:
 • Trauma:
	- Immobilization
	- Crush injury
	- Compartment
Rhabdomyolysis - ... Heat stroke - Metabolic ... : • Triad of symptoms ... urine • Other symptoms ... per day until stable
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