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diagnosis pediatrics cardiology genetics management 21hydroxylasedeficiency 21ohd anemia aplastic childhood encephalopathy endocrinology fontan heart hematology immunization keratoconus left longqt neurology
Hypoplastic left heart syndrome A congenital heart defect in which the left heart is severely underdeveloped Accounts for
Hypoplastic left ... heart syndrome ... #Cardiology #Hypoplastic ... #left #heart #syndrome ... #Diagram
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
Congenital Long QT Syndrome: Illness Script Who? - Kids or young adults, usually < 30 - high
Congenital Long ... QT Syndrome: Illness ... live births Symptoms ... arrest/death - Symptoms ... #LongQT #Syndrome
Aplastic Anemia - Overview Who? • M = F • 3 peaks: 1) Childhood 2) 15-25 years 3) >60 years What? • Aplastic anemia
Constitutional Syndromes ... , Dyskeratosis congenita ... Hypocellular/Hypoplastic ... Level ↑ • Marrow hypoplasia ... • Improve the symptoms
Fontan Procedure Schematic A Fontan is done in most children (approximately 90%) who effectively have a single
secondary to a hypoplastic ... syndrome. ... Procedure #Schematic #Diagram ... #Peds #Pediatrics ... #Pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
also known as "congenital ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... Imperfecta • Lebed's congenital ... Keratoconus Signs / Symptoms ... #Keratoconus #pathophysiology
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
Childhood Immunization Schedule: Why we immunize • Diphtheria Toxin -> URT inflammation causes pseudomembrane with hardened
hemorrhagic rash; symptoms ... organ ischemia -> Congenital ... non-specific viral symptoms ... #Immunization #peds ... #pediatrics #pathophysiology
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