8 results
diagnosis pediatrics management cardiology 21hydroxylasedeficiency 21ohd anemia aplastic congenital encephalopathy endocrinology fallot fontan hematology henochscholeinpurpura hsp iga keratoconus neurology oncology
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... Complications: • Gonadal hypoplasia ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... management #cardiology #peds
Aplastic Anemia - Overview Who? • M = F • 3 peaks: 1) Childhood 2) 15-25 years 3) >60 years What? • Aplastic anemia
Constitutional Syndromes ... : - Genetic lesions ... Hypocellular/Hypoplastic ... Level ↑ • Marrow hypoplasia ... • Improve the symptoms
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
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... Keratoconus Signs / Symptoms ... #Keratoconus #pathophysiology
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings - Infectious Agents - 50% have
predisposition - Various genetic ... nephrotic/nephritic syndrome ... HenochScholeinPurpura #Pathophysiology ... Diagnosis #Signs #Symptoms
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Encephalopathy Syndrome ... Clinico-Radiological Syndrome ... Etiology: • Pathophysiology ... Neurological symptoms ... Seizures: Treat with AEDs
Fontan Procedure Schematic A Fontan is done in most children (approximately 90%) who effectively have a single
secondary to a hypoplastic ... or a congenital syndrome ... Procedure #Schematic #Diagram ... congenital #Cardiology #Peds ... #Pediatrics #Pathophysiology
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