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diagnosis pediatrics genetics syndrome algorithm causes iem inbornerrors management metabolism neonatology nicu nutrition table 21hydroxylasedeficiency 21ohd aflp ammonia beriberi deficiency
Hypoxic-ischemic encephalopathy (HIE) #HypoxicIschemic #encephalopathy #HIE #Neonatal #Peds #Pediatrics #Pathophysiology
Hypoxic-ischemic encephalopathy ... HypoxicIschemic #encephalopathy ... HIE #Neonatal #Peds ... #Pediatrics #Pathophysiology
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
delayed puberty -> Infertility ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... connections and pathophysiology ... MetabolicEmergency #Genetics #Pathophysiology ... Diagnosis #Algorithm #Differential ... #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
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds
Acute Fatty Liver of Pregnancy (AFLP) Pathophysiology: • Defect in fetal free fatty acid metabolism products →
Pregnancy (AFLP) Pathophysiology ... hypoglycemia, encephalopathy ... infiltration) Differential ... diagnosis #management #pathophysiology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Posterior Reversible Encephalopathy ... Etiology: • Pathophysiology ... Reversible course Differential ... Seizures: Treat with AEDs ... Posterior #Reversible #Encephalopathy
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
Reye syndrome (Peds ... deficiency #Ammonia #Pathophysiology ... Hyperammonemia #Differential
Refeeding Syndrome Overview What Is It? • Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
syndrome • Wernicke encephalopathy ... Syndrome #Nutrition #Differential ... #Diagnosis #Pathophysiology
Thiamine Deficiency - Differential Diagnosis Framework and Clinical Manifestations Causes of Thiamine Deficiency: • Poor intake: - Diets
Thiamine Deficiency - Differential ... • Wernicke's Encephalopathy ... Manifestations #Differential ... beriberi #nutrition #pathophysiology
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