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diagnosis causes differential genetics peds treatment 21hydroxylasedeficiency 21ohd acromegaly anesthesia anesthesiology checklist hypertension hyperthermia indications perioperative person praderwilli secondary sps
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... delayed puberty -> Infertility ... #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 ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Causes of Secondary Hypertension - Workup and Differential Diagnosis Approach (when evaluation should be done): 1. Severe or
Hypertension - Workup ... hypertension and signs ... renal bruit or signs ... Vasculitis • Endocrinologic ... Neurologic disorders
Peri-operative Hyperthermia - Guidelines for Crises in Anaesthesia If prolonged or ≥ 39 C this is a
hyperthermia crisis (late sign ... • Serotonin syndrome ... Phaeochromocytoma Neurologic ... Checklist #Diagnosis #Management ... #Workup
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook Clinical Presentation: • Classic Acromegaly: frontal
malignancy Pathophysiology ... Beckwith Wiedemann syndrome ... Diagnosis and Workup ... #Endocrinology ... #Treatment #Pathophysiology
Stiff Person Syndrome (SPS) - Diagnosis and Management Summary Epidemiology: • Prevalence: 1-2 cases per million -
Diagnosis and Management ... Pathophysiology ... antibody that works ... SPS #Diagnosis #Management ... #treatment #neurology
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