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diagnosis pediatrics management syndrome iem inbornerrors neonatology nicu table 21hydroxylasedeficiency 21ohd acromegaly algorithm ckd diabetes diabeticketoacidosis differential dka encephalopathy gitelman
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
Complications of CKD - Patients with stages 1-3 ([GFR] >30 mL/min) of CKD are generally asymptomatic;
Complications of ... imbalances or endocrine/metabolic ... #Pathophysiology ... #Nephrology #CKD ... #Complications
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Signs/Symptoms/Complications ... 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
Diabetic Ketoacidosis (DKA) - Pathogenesis and Clinical Findings • Note: in DKA, body K+ is lost
Due to neuronal metabolism ... Signs/Symptoms/Complications ... DiabeticKetoacidosis #DKA #pathophysiology ... #endocrinology
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook Clinical Presentation: • Classic Acromegaly: frontal
Hypogonad (50%) • Metabolic ... malignancy Pathophysiology ... phenytoin, minoxidil), genetic ... Diagnosis #Management #Endocrinology ... #Treatment #Pathophysiology
Retinopathy of Prematurity: Pathogenesis and clinical findings Increased metabolic demand of growing eye -> Excessive VEGF production ->
findings Increased metabolic ... -> Neovascular complications ... #Prematurity #peds ... #pediatrics #pathophysiology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Etiology: • Pathophysiology ... Drug toxicity, Metabolic ... Seizures: Treat with AEDs ... diagnosis #management #neurology
Gitelman Syndrome Overview What? • Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter • Gitelman's syndrome
hypomagnesemia • Metabolic ... Hypochloremic metabolic ... diarrhea Potential Complications ... Syndrome #diagnosis #nephrology ... #management #pathophysiology
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