80 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... Peds #Pediatrics #Table ... #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... MetabolicEmergency #Genetics ... Peds #Pediatrics #Table
Causes of Hypercalcemia due to increased Vitamin D levels
 • The BIG 3:
Paraffin-associated granuloma • Genetic ... elasticum, CYP24A1 mutation ... infantile), SLC34A1 mutation
Etiologies of Hypoaldosteronism

Hyporeninemic Hypoaldosteronism (Low Renin, Low Aldosterone)
 - Diabetic Nephropathy 
 - NSAIDs
Non-Hyporeninemic Hypoaldosteronism (Normal
Critical illness - Genetic ... Sulfamethoxazole - Genetic ... Aldosterone #Comparison #Table
Autosomal Dominant Inheritance
 - Most common mode of Mendelian inheritance 
 - Affected individual carries the
family history (new mutation ... #Inheritance #Genetics
Levothyroxine tablet strengths are also color coded. Depending on the tablet shape (round vs oval) and
Levothyroxine tablet ... Depending on the tablet ... round vs oval) and generic
Etiologies of Hypernatremia - Differential Diagnosis
GI losses / Insensible losses
Sodium Overload
Transcellular Movement of Water
Central Diabetes Insipidus
- Various rare genetic ... - Various rare genetic ... Differential #Diagnosis #Table
Pocket Comparison Guide to Heritable Hypertension Syndromes (Secondary Hypertension)

Bartter, Gitelman, Liddle, Primary Aldosteronism, 
GRA (Glucocorticoid Remediable
(Activating MR Mutation ... Syndromes #Comparison #Table
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations
Risk Factors:
 - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... HLA-DR4 mutation
Point-of-care lung ultrasound for diagnosis of Pneumocystis jirovecii pneumonia: notes from the field
Table 3: Description of
from the field Table ... EBM #Diagnosis #POCUS