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peds causes differential management 21hydroxylasedeficiency 21ohd aorticvalve arteriosus bicuspid brain clinical endocrinology examination fallot leigh mri newborn physicalexam praderwilli pressure
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... #management #cardiology ... #peds #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Causes of Severe Aortic Regurgitation - Differential Diagnosis Acute: • Leaflet: Traumatic Rupture, Acute Infective Endocarditis, Acute
- Differential Diagnosis ... : • Infxn + Inflammatory ... Cogan's Disease • Genetic ... Ehlers-Danlos Syndrome ... #Causes #cardiology
Aortic Stenosis & Bicuspid Aortic Valve (AS) • Introduction & Pathophysiology • Classifications • Epidemiology •
Aortic Stenosis ... Introduction & Pathophysiology ... • Radiologic/Diagnostic ... #AorticValve #cardiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
deficiencies present in infants ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Truncus Arteriosus • Basic Information • Embryology • Associated anomalies • Pathophysiology/Presentation • Pre-operative management •
anomalies • Pathophysiology ... vasculature, right aortic ... Truncus #Arteriosus #diagnosis ... #management #cardiology ... #peds #pediatrics
Widened Pulse Pressure - Differential Diagnosis and Pathophysiology Pulse pressure is the difference between the systolic blood
and Pathophysiology ... disorders: - Aortic ... Acute Coronary Syndrome ... #Pathophysiology ... #causes #cardiology
Newborn Infant - Routine Examination Birthweight, gestational age and birthweight percentile are noted. General observation Of the baby's
When the diagnosis ... paediatrician or geneticist ... coarctation of the aorta ... Examination #Peds #Pediatrics ... #Diagnosis
Leigh Syndrome History: 19-month-old girl with hypotonia, developmental delay, failure to thrive, and bilateral optic disc
Leigh Syndrome ... and bilateral optic ... biochemical & genetic ... Clinical #MRI #Brain #Diagnosis ... #Radiology
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