61 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 ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... diagnosing acute metabolic ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #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
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... management #cardiology #peds
Causes of Rhabdomyolysis - Differential Diagnosis
 • Drugs & Toxins (Statins, alcohol, cocaine)
 • Direct Muscle
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 ... #PraderWilli #Syndrome ... #genetics #pathophysiology ... #peds #pediatrics
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
 -
inborn error of metabolism ... Preimplantation genetic ... fertilisation allows genetic ... transfusion syndrome ... Non-invasive genetic
Serotonin Syndrome Drug Precipitants and Pharmacology
↑ Serotonin Formation: Tryptophan, Oxitriptan
↑ Serotonin Release: Amphetamines, Cocaine, Mirtazapine
↑ Serotonin
Serotonin Syndrome ... Precipitants and Pharmacology ... Lithium ↓ Serotonin Metabolism ... ucsdim #Serotonin #Syndrome ... #Pharmacology #
Causes of Diffuse Lung Disease. 
Collagen vascular 
 - Scleroderma 
 - Rheumatoid arthritis 
 -
Churg-Strauss syndrome ... Chronic mycoses Genetic ... sclerosis - Metabolic ... Hermansky-Pudlak syndrome
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm
Cardiac:
 • Congenital Heart Disease
 •
Myocarditis Metabolic ... Inborn Errors of Metabolism ... • Reye's Syndrome ... Algorithm #Causes #Peds