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diagnosis pediatrics genetics gh management 21hydroxylasedeficiency 21ohd anomalous cardiology cop cryptogenic excess feedbackloop organizing overproduction pituitary pneumonia praderwilli return summary
Feedback Loop: Growth Hormone (GH) Growth Hormone: • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
activates lipolysis Signs ... metabolic abn #GrowthHormone ... #FeedbackLoop #endocrinology ... #pathophysiology
Growth Hormone Excess - Pathogenesis and clinical findings • Acromegaly and gigantism share the same pathophysiology
share the same pathophysiology ... fraction • HTN #GrowthHormone ... Overproduction #diagnosis #signs ... #symptoms #endocrinology ... #pathophysiology
Total Anomalous Pulmonary Venous Return (TAPVR) • Introduction • Classification • Pathophysiology of TAPVR • Presentation
Total Anomalous Pulmonary ... Classification • Pathophysiology ... Classic “snowman sign ... Total #Anomalous #Pulmonary ... management #cardiology #peds
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... sleep apnea, cor pulmonale ... Syndrome #genetics #pathophysiology ... #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
Cryptogenic Organizing Pneumonia - Illness Script PATHOPHYSIOLOGY: Unknown trigger, reversible inflammatory/fibroproliferative process. Polypoid fibroblastic aggregates that plug
Illness Script PATHOPHYSIOLOGY ... Males=Females SIGNS ... identified (autoimmune, meds ... diagnosis #management #pulmonary
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