4 results
diagnosis genetics pediatrics 21hydroxylasedeficiency 21ohd caudaequina cecs chronicexertional compartmentsyndrome endocrinology praderwilli
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... /Complications: ... #genetics #pathophysiology ... #peds #pediatrics
Cauda Equina Syndrome Causes: • Large lumbar degenerative disc herniation (central) • Severe lumbar spondylosis • Neoplasm
Cauda Equina Syndrome ... lumbar spine Signs ... / Symptoms / Complications ... #MSK #pathophysiology ... #signs
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... vomiting • Late (shock ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds
Chronic Exertional Compartment Syndrome (CECS) • Diagnosis Of CECS requires patient to undergo the same exertional
Exertional Compartment Syndrome ... • Diagnostic criteria ... CompartmentSyndrome #CECS #pathophysiology ... #diagnosis #signs ... #symptoms #msk
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