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diagnosis genetics 21hydroxylasedeficiency 21ohd alzheimersdisease anomalous dementia encephalopathy endocrinology fallot geriatrics hematology leukostasis lysis neurology posterior praderwilli pres pulmonary return
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... Associated Genetic Syndromes ... Fallot #diagnosis #management ... #cardiology #peds ... #pediatrics #treatment
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Total Anomalous Pulmonary Venous Return (TAPVR) • Introduction • Classification • Pathophysiology of TAPVR • Presentation
Classification • Pathophysiology ... Classic “snowman sign ... Pre-Operative Management ... #cardiology #peds ... #pediatrics #summary
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
mutations - Down syndrome ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Leukostasis vs Tumor Lysis Syndrome Leukostasis: • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
Leukostasis: • Pathophysiology ... high WBC count cause ... WBC >100k, + lab signs ... : • Pathophysiology ... TLS #diagnosis #management
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 ... : (distinct symptoms ... Sarcoidosis #Diagnosis #Management ... #Signs #Symptoms
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds ... #pediatrics
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Etiology: • Pathophysiology ... Neurological symptoms ... the underlying cause ... until cause identified ... #diagnosis #management
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