4 results
diagnosis genetics 21hydroxylasedeficiency 21ohd acromegaly encephalopathy neurology posterior praderwilli pres reversible treatment
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Etiology: • Pathophysiology ... Neurological symptoms ... Anterior circulation: MCA ... Seizures: Treat with AEDs ... #diagnosis #management
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook Clinical Presentation: • Classic Acromegaly: frontal
GrepMed Handbook Clinical ... malignancy Pathophysiology ... Beckwith Wiedemann syndrome ... levels to <1ng/mL ... #Endocrinology
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