11 results
management iem inbornerrors metabolism neonatology nicu table 21hydroxylasedeficiency 21ohd algorithm anomalous anomaly aortic aorticvalve arteries arteriosus atrioventricular bicuspid cushion defect
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Tetralogy #Fallot #diagnosis ... #management #cardiology ... #peds #pediatrics
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
additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
delayed puberty -> Infertility ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Aortic Stenosis & Bicuspid Aortic Valve (AS) • Introduction & Pathophysiology • Classifications • Epidemiology •
Introduction & Pathophysiology ... • Radiologic/Diagnostic ... #AorticValve #cardiology ... #peds #pediatrics
Atrioventricular Septal Defect aka AV canal defect aka endocardial cushion defect • Epidemiology and Associations • Embryology
Physical Exam • Pathophysiology ... endocardial #cushion #diagnosis ... #management #peds ... #pediatrics #cardiology
Ebstein Anomaly • Prevalence • Pathophysiology • Presentation • Physical Examination Findings • Initial Management •
Prevalence • Pathophysiology ... Ebstein #Anomaly #diagnosis ... #management #cardiology ... #pediatrics #peds
Truncus Arteriosus • Basic Information • Embryology • Associated anomalies • Pathophysiology/Presentation • Pre-operative management •
anomalies • Pathophysiology ... Truncus #Arteriosus #diagnosis ... #management #cardiology ... #peds #pediatrics
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 ... #genetics #endocrinology ... #peds #pediatrics
d-Transposition of the Great Arteries • Anatomy • Epidemiology • Associated Lesions • Pathophysiology/Presentation • Classic
Associated Lesions • Pathophysiology ... Great #Arteries #peds ... #pediatrics #cardiology ... #diagnosis #management
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