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5-Oxoprolinuria What is it: • Aka pyroglutamic acidosis, Intermediate in γ-glutamyl cycle • Amino acid transport and
synthesis • Inborn ... paracetamol ingestion Clinical ... high index of clinical
Osborn wave (J wave) in Hypothermia - Positive deflection at the J point Height of the J
Osborn wave (J wave ... hypothermia #Clinical ... Cardiology #ECG #EKG #Osborn
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 Osborn (J Wave) Etiology • Hypothermia (below 320C / SOOF) • Normal variant • Hypercalcemia • Neurological
Osborn (J Wave) ... fibrillation Clinical ... prognostic value #Osborn
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
patterns seen in Inborn
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
pathophysiology of the inborn
Hypothermia on EKG • J (Osborn) waves • PR, QRS, and QT prolongation • Various bradyarrythmias
on EKG • J (Osborn ... #Hypothermia #osborn ... cardiology #diagnosis #clinical
Phosphate Electrolyte Repletion Oral: Neutra-Phos, Neutra-Phos-K, K-Phos Neutral (Na and K Phos) Intravenous: Potassium Phosphate, Sodium Phosphate Satya Patel
hypophosphatemia #intern
Some of the techniques used for Antenatal Diagnosis Amniocentesis - Chromosome/micro-array and DNA analysis -
Enzyme analysis of inborn
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm Cardiac: • Congenital Heart Disease •
Metabolic: • Inborn
Short Stature - Differential Diagnosis Algorithm Normal Variant, Normal Puberty Onset (BA = CA) • Familial Short
Fibrosis, CHF) • Inborn
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