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diagnosis peds iem inbornerrors metabolism neonatology nicu 21hydroxylasedeficiency 21ohd algorithm aortoenteric ascorbicacid cardiology differential endocrinology fallot fistula laboratory metabolicemergency nutrition
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... the lab values table ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Table #IEM #NICU
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
Metabolism A table ... from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... palliation • Post-Op Management ... Fallot #diagnosis #management ... cardiology #peds #pediatrics
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
Scurvy (Vitamin C Deficiency) - Diagnosis and Management Vitamin C is required for hydroxylation of proline residues
Diagnosis and Management ... musculoskeletal symptoms ... Psychiatric symptoms ... beta-spectrin, which is crucial ... #AscorbicAcid #Pathophysiology
Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Diagnosis and Management ... survival is 93-95% Pathophysiology ... Self-limiting, chronic but stable ... Sarcoidosis #Diagnosis #Management ... #Signs #Symptoms
Aortoenteric Fistula - Diagnosis and Management Summary Epidemiology: • Uncommon but life-threatening • Most common site of bowel connection
Diagnosis and Management ... Clinical Signs/Symptoms ... Pathophysiology: ... Management: SURGERY ... Fistula #Diagnosis #Management
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