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diagnosis cardiology genetics hematology symptoms 21hydroxylasedeficiency 21ohd alzheimersdisease anomalous brudzinskis clinical dementia encephalopathy endocrinology fallot geriatrics hemeonc hemophagocytic hlh leukostasis
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... Associated Genetic Syndromes ... Fallot #diagnosis #management ... #cardiology #peds ... #pediatrics #treatment
Total Anomalous Pulmonary Venous Return (TAPVR) • Introduction • Classification • Pathophysiology of TAPVR • Presentation
Classification • Pathophysiology ... Classic “snowman sign ... Pre-Operative Management ... #cardiology #peds ... #pediatrics #summary
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
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
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski) Brudzinski's sign is characterized
Brudzinski’s Sign ... Passive neck flexion causes ... While the pathophysiology ... #PhysicalExam #Pediatrics ... #Peds
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 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 ... Global mortality: 9- ... survival is 93-95% Pathophysiology ... symptoms are not caused ... #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 ... the underlying cause ... Seizures: Treat with AEDs ... until cause identified ... #diagnosis #management
Hemophagocytic Lymphohistiocytosis (HLH) High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
recognition and management ... hyperinflammatory syndrome ... caused by uncontrolled ... Presentation • Common Signs ... Pathophysiology
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