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diagnosis management genetics 21hydroxylasedeficiency anomalous cardiology elbow embolism endocrinology fat humerus orthopedics praderwilli refeeding return sarcoidosis summary supracondylar tapvr total
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Signs/Symptoms ... Incr Skeletal fractures ... sleep apnea, cor pulmonale ... #genetics #pathophysiology ... #peds #pediatrics
Total Anomalous Pulmonary Venous Return (TAPVR) • Introduction • Classification • Pathophysiology of TAPVR • Presentation
Total Anomalous Pulmonary ... Classification • Pathophysiology ... Classic “snowman sign ... diagnosis #management #cardiology ... #peds #pediatrics
Fat Embolism Syndrome Trauma to the long bone or pelvis accounts for —9096 of cases. The diagnosis
stabilization of fractures ... Pathophysiology ... onset widespread pulmonary ... #Diagnosis #Signs ... #Symptoms
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 ... endocrinology #peds ... #pediatrics
Supracondylar Elbow Fracture • Most common elbow fracture in children, peak age 5-7 • When looking at
anterior sail sign ... can't make A-OK sign ... ), compartment syndrome ... Elbow #Humerus #Radiology ... #Orthopedics #MSK
Refeeding Syndrome: Pathogenesis and clinical findings Patients at Risk of Refeeding Syndrome: - Little or no nutritional
Refeeding Syndrome ... - CHF - Pulmonary ... Constipation - MSK ... #diagnosis #pathophysiology ... #symptoms #signs
Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... Pulmonary: dyspnea ... acute sarcoidosis Pulmonary ... anterior/posterior MSK ... Diagnosis #Management #Signs
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