812 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
patterns seen in Inborn ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
pathophysiology of the inborn ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis #Algorithm ... #Differential #
Osborn (J Wave)

Etiology 
• Hypothermia (below 320C / SOOF) 
• Normal variant 
• Hypercalcemia 
• Neurological
Osborn (J Wave) ... prognostic value #Osborn ... JWave #Diagnosis #Differential
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Lipid Profiles - Differential ... Diagnosis Algorithm ... Triglycerides - Genetic ... LipidProfiles #Differential ... #Diagnosis #Algorithm
Adrenal Insufficiency - Differential Diagnosis Workup Algorithm
Primary Adrenal Insufficiency:
 • Autoimmune primary adrenal insufficiency
 • Adrenoleukodystrophy,
Insufficiency - Differential ... Diagnosis Workup Algorithm ... Adrenoleukodystrophy, genetic ... Insufficiency #Differential ... Diagnosis #Workup #Algorithm
Causes of Dilated Cardiomyopathy DCMP - Differential Diagnosis Algorithm
Idiopathic DCMP: Viral, Inflammatory cardiomyopathy, Genetic causes, Unknown
Cardiomyopathy DCMP - Differential ... Diagnosis Algorithm ... cardiomyopathy, Genetic ... Cardiomyopathy #DCMP #Differential ... #Diagnosis #Algorithm
Causes of Hypomagnesemia - Differential Diagnosis Algorithm
GI LOSS - FeMg < 2-2.5% or 24h Urine Mg
Hypomagnesemia - Differential ... Diagnosis Algorithm ... other EGFR ab • Genetics ... #Low #Causes #Differential ... #Diagnosis #Algorithm
Algorithmic Approach and Differential Diagnosis - Hypercalcemia
#Diagnosis #Hypercalcemia #Differential #Algorithm #Workup
Algorithmic Approach ... and Differential ... Hypercalcemia #Differential ... #Algorithm #Workup
Causes of Recurrent Pregnancy Loss - Differential Diagnosis Algorithm
Environmental:
 • Toxin (organic solvents, mercury, lead)
 •
Pregnancy Loss - Differential ... Diagnosis Algorithm ... phase deficiency Genetic ... Spontaneous #Abortion #Differential ... #Diagnosis #Algorithm
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
 -
Enzyme analysis of inborn ... Preimplantation genetic ... fertilisation allows genetic ... Non-invasive genetic