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diagnosis genetics pediatrics iem inbornerrors management metabolism neonatology nicu algorithm ammonia causes comparison encephalopathy hyperammonemia hyperthermic laboratory metabolicemergency neurology patterns
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... the lab values table ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds ... #Pediatrics #Table
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
Metabolism A table ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
rare): - Reye syndrome ... (Peds) - Primary ... deficiency #Ammonia #Pathophysiology ... Hyperammonemia #Differential
Rhabdomyolysis - Differential Diagnosis and Management Summary Trauma: • Immobilization, Crush iniury, Compartment syndrome, Electrical injury Exertional: •
Rhabdomyolysis - Differential ... iniury, Compartment syndrome ... Neuroleptic malignant syndrome ... Dermatomyositis) AKI - Pathophysiology ... per day until stable
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Encephalopathy Syndrome ... Clinico-Radiological Syndrome ... Etiology: • Pathophysiology ... Reversible course Differential ... Seizures: Treat with AEDs
Hyperthermic Toxidromes Five toxidromes may present with overlapping features: hyperthermia, rhabdomyolysis, altered mental status/seizures. • Sympathomimetic -
• Serotonin Syndrome ... serotoninergic meds ... Toxidromes #comparison #table ... #diagnosis #differential
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