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diagnosis management pediatrics nephrology differential iem inbornerrors neonatology nicu table treatment acromegaly algorithm ammonia cardiology encephalopathy endocrinology fallot hyperammonemia hypokalemia
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... inborn errors of metabolism ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... diagnosing acute metabolic ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Gitelman Syndrome Pathophysiology Gitelman Syndrome is a rare autosomal recessive salt-losing tubulopathy with a prevalence of 1-
Gitelman Syndrome ... Pathophysiology ... Gitelman Syndrome ... → Hypokalemia Metabolic ... #Syndrome #Pathophysiology
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... management #cardiology #peds
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... #PraderWilli #Syndrome ... #genetics #pathophysiology ... #peds #pediatrics
Gitelman Syndrome Overview What? • Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter • Gitelman's syndrome
Gitelman Syndrome ... cotransporter • Gitelman's ... hypomagnesemia • Metabolic ... Hypochloremic metabolic ... nephrology #management #pathophysiology
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
and decreased metabolism ... rare): - Reye syndrome ... (Peds) - Primary ... deficiency #Ammonia #Pathophysiology
Gitelman Syndrome - Diagnosis and Workup Blood Work: - Hypokalemia - Hypomagnesemia - Metabolic Alkalosis - Elevated
Gitelman Syndrome ... Hypomagnesemia - Metabolic ... echogenic kidneys Genetic ... dr_missyhanna #Gitelman ... #Syndrome #Diagnosis
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook Clinical Presentation: • Classic Acromegaly: frontal
Hypogonad (50%) • Metabolic ... malignancy Pathophysiology ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome ... Endocrinology #Treatment #Pathophysiology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Encephalopathy Syndrome ... Clinico-Radiological Syndrome ... Etiology: • Pathophysiology ... Drug toxicity, Metabolic ... Seizures: Treat with AEDs
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