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diagnosis peds hematology cardiology hemophagocytic hlh lymphohistiocytosis syndrome treatment 21hydroxylasedeficiency 21ohd anomalous endocrinology fallot hemeonc leukostasis lysis praderwilli pulmonary return
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... palliation • Post-Op Management ... Fallot #diagnosis #management ... cardiology #peds #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Total Anomalous Pulmonary Venous Return (TAPVR) • Introduction • Classification • Pathophysiology of TAPVR • Presentation
Classification • Pathophysiology ... Classic “snowman sign ... Pre-Operative Management ... Post-Operative Management ... cardiology #peds #pediatrics
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
Hemophagocytic Lymphohistiocytosis (HLH) Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
an underlying genetic ... Diagnosis: HLH signs ... Diagnosis via genetic ... Lymphohistiocytosis #diagnosis #management ... #treatment #hematology
Leukostasis vs Tumor Lysis Syndrome Leukostasis: • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
Leukostasis: • Pathophysiology ... WBC >100k, + lab signs ... Lysis Syndrome: • Pathophysiology ... TLS #diagnosis #management ... #hematology
Hemophagocytic Lymphohistiocytosis (HLH) High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
recognition and management ... Familial) HLH: - Genetic ... Presentation • Common Signs ... Pathophysiology ... #Hematology #HemeOnc
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