2009 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
Osborn wave (J wave) in Hypothermia - Positive deflection at the J point

Height of the J
Osborn wave (J wave ... Cardiology #ECG #EKG #Osborn
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Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... physicalexam #pediatrics #genetics
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Osborn (J Wave)

Etiology 
• Hypothermia (below 320C / SOOF) 
• Normal variant 
• Hypercalcemia 
• Neurological
Osborn (J Wave) ... prognostic value #Osborn
Hypothermia on EKG
 • J (Osborn) waves
 • PR, QRS, and QT prolongation
 • Various bradyarrythmias
on EKG • J (Osborn ... #Hypothermia #osborn
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
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Enzyme analysis of inborn ... Preimplantation genetic ... fertilisation allows genetic ... Non-invasive genetic
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
lipoproteins and related genetic ... #lipoproteins #genetics
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Differential Diagnosis Algorithm ... Triglycerides - Genetic ... Decreased HDL - Genetic ... Increased LDL Genetic ... Differential #Diagnosis #Algorithm
BOA	(born out	of asepsis)
#Management #Peds #Born #Asepsis #BOA #PEMSource #Algorithm
BOA (born out of ... Management #Peds #Born ... BOA #PEMSource #Algorithm