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diagnosis genetics pediatrics syndrome 21hydroxylasedeficiency 21ohd acute caudaequina chronic closedangle endocrinology erythematosus glaucoma hypertensive lupus management musculoskeletal pagetsdisease praderwilli retinopathy
Systemic Lupus Erythematosus (SLE): Musculoskeletal Manifestations • Immune Complex Deposition - Arthralgia, Arthritis
Myopathy (Also caused ... Erythematosus #SLE #MSK ... Musculoskeletal #Complications ... #pathophysiology ... #signs #symptoms
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... sleep apnea, cor pulmonale ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Cauda Equina Syndrome Causes: • Large lumbar degenerative disc herniation (central) • Severe lumbar spondylosis • Neoplasm
Equina Syndrome Causes ... / Symptoms / Complications ... CaudaEquina #Syndrome #MSK ... #pathophysiology ... #signs
Chronic Hypertensive Retinopathy: Pathogenesis and clinical findings Ophthalmic Artery Hypertension Stage 1: Mild/vasoconstrictive • Acute and chronic vasospasm
hyalinization causes ... #Retinopathy #pathophysiology ... #ophthalmology ... #diagnosis #signs ... #symptoms #complications
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
Acute Closed Angle Glaucoma: Pathogenesis and Clinical Findings OPHTHALMIC EMERGENCY: Early detection is essential, but most patients
• Significant cause ... damage & blindness Signs ... / Symptoms / Complications ... ClosedAngle #Glaucoma #pathophysiology ... #ophthalmology
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
Paget’s Disease: Complications Abnormal Osteoclasts cause excessive bone turnover -> Incr bone resorption, Incr (abnormal) bone formation MSK
Paget’s Disease: Complications ... bone formation MSK ... PagetsDisease #pathophysiology ... #diagnosis #signs ... #symptoms #complications
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