8 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
A table of lab ... values compiled ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Peds #Pediatrics #Table ... #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
See the lab values ... table for supplemental ... MetabolicEmergency #Genetics ... Diagnosis #Algorithm #Differential ... Peds #Pediatrics #Table
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
 -
Fetal infection — PCR ... Fetal infection serology ... transfusion Chorionic villus ... inborn error of metabolism ... Non-invasive genetic
Weakness - Differential Diagnosis Framework

Approach To Weakness:
 • Non-neuromuscular disorder (Cardiac, pulmonary etc)
 • CNS ->
Weakness - Differential ... Radiation • Metabolic ... Hypothyroid • Metabolic ... Malignancy-associated myositis • Genetic ... #Diagnosis #neurology
Causes of Secondary Hypertension - Workup and Differential Diagnosis
Approach (when evaluation should be done):
1. Severe or
Hypertension - Workup and Differential ... with previously stable ... values. 3. ... hypokalemia and metabolic ... Neurologic disorders
Rhabdomyolysis - Differential Diagnosis Framework
Rhabdomyolysis = Destruction of skeletal muscle with leakage of contents into circulation.
Compression • Genetic ... Glycogenolysis, Lipid metabolism ... malignant syndrome • Metabolic ... Diagnosis #Causes #nephrology ... #table
Myasthenia Gravis Overview

Myasthenia Gravis is an autoimmune disorder of the postsynaptic neuromuscular junction.  Ab to
life-threatening Differential ... Miller Fischer and PCB ... Serologic and EMG ... Gravis #diagnosis #management ... #neurology
Rhabdomyolysis - Differential Diagnosis Framework and Management Summary

Causes of Rhabdomyolysis:
 • Trauma:
	- Immobilization
	- Crush injury
	- Compartment
Rhabdomyolysis - Differential ... Framework and Management ... Heat stroke - Metabolic ... per day until stable ... #Diagnosis #Management