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diagnosis pediatrics iem inbornerrors management metabolism neonatology nicu psychiatry riskfactors signs syndrome table 21hydroxylasedeficiency 21ohd anorexianervosa bulimianervosa differential encephalopathy endocrinology
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Etiology: • Pathophysiology ... unclear, endothelial dysfunction ... Neurological symptoms ... Seizures: Treat with AEDs
Anorexia Nervosa: Pathogenesis and Risk Factors Biological Risk Factors • Gender: F > M • Genetics: concordance
Gender: F > M • Genetics ... abuse, familial dysfunction ... AnorexiaNervosa #pathophysiology ... diagnosis #signs #symptoms
Bulimia Nervosa: Pathogenesis and Risk Factors Biological Risk Factors • Gender: F > M • Genetics: Some
Gender: F > M • Genetics ... CHARACTERISTICS Emotional Dysfunction ... states Cognitive Dysfunction ... BulimiaNervosa #pathophysiology ... diagnosis #signs #symptoms
Hemophagocytic Lymphohistiocytosis (HLH) High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
cytopenias and organ dysfunction ... Persistent fever, organ dysfunction ... Familial) HLH: - Genetic ... Common Signs and Symptoms ... Pathophysiology
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