11 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Lab patterns seen ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #InbornErrors ... #Table #NICU #Genetics ... IEM #Laboratory #Patterns
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis #Algorithm ... Table #IEM #NICU #InbornErrors
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Differential Diagnosis Algorithm ... Triglycerides - Genetic ... Increased LDL Genetic ... Increased Estrogen (e.g ... Differential #Diagnosis #Algorithm
An Approach to Acute Dyspnea - Diagnostic Framework

From the HPI, PMH, vitals, focused physical exam (e.g.
physical exam (e.g ... one of 8 basic patterns ... Acute #Workup #Algorithm
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Differential Diagnosis Algorithm ... Syndromic • Genetic ... Teratogenic Disorder (e.g ... • Mechanical (e.g ... Differential #Diagnosis #Algorithm
Causes of Growth Discrepancy: Large for Gestational Age - Differential Diagnosis Algorithm
Maternal Factors:
 • Multiparity
 •
Differential Diagnosis Algorithm ... co-morbidities (e.g ... >41 weeks) • Genetic ... disorder (e.g. ... Differential #Diagnosis #Algorithm
Approach to Headaches - Differential Diagnosis Algorithm

Red flags (PHANTOMS):
 • Pattern change, progressively worse, papilledema
 •
Differential Diagnosis Algorithm ... PHANTOMS): • Pattern ... symptoms and signs (e.g ... CNS infection (e.g ... Differential #Diagnosis #Algorithm
Eosinophilia - Differential Diagnosis Algorithm
Idiopathic Eosinophilia
Primary Eosinophilia:
 • Primary hypereosinophilic syndrome
 • Eosinophilic Leukemia
 • MPN/MDS
Differential Diagnosis Algorithm ... eosinophilia • Familial/Genetic ... inflammatory disease: e.g ... Differential #Diagnosis #Algorithm
Hyperkalemia - Management Algorithm
 • IV calcium
 • IV insulin and glucose and/or salbutamolt
 • Consider
Hyperkalemia - Management Algorithm ... potassium and ECG ... morphology, "Sine wave" pattems ... diagnosis #management #algorithm
Weakness - Differential Diagnosis Framework

Approach To Weakness:
 • Non-neuromuscular disorder (Cardiac, pulmonary etc)
 • CNS ->
changes - Common pattern ... Malignancy-associated myositis • Genetic ... electromyographic (EMG