4 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... delayed puberty -> Infertility ... #genetics #pathophysiology
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
Causes of Secondary Hypertension - Workup and Differential Diagnosis
Approach (when evaluation should be done):
1. Severe or
hypertension and signs ... renal bruit or signs ... Vasculitis • Endocrinologic ... Neurologic disorders ... dysautonomia, and Guillain-Barre
The Neurological Evaluation of a Comatose Patient

Definition:
 • Coma: a state of unresponsiveness; the absence of
Unresponsive wakefulness syndrome ... • Locked-in syndrome ... • Mutism Pathophysiology ... • Examine for signs ... #PhysicalExam #neurology