5 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... Signs/Symptoms/Complications ... fractures • Short ... #genetics #pathophysiology
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Pathogenesis and Clinical ... Ehlers-Danlos syndrome ... Signs / Symptoms / Complications ... #Keratoconus #pathophysiology ... #ophthalmology
Giant cell arteritis (GCA)

Giant cell arteritis (GCA) definition: Most common systemic inflammatory vasculitis in older adults
with systemic, neurologic ... and ophthalmic complications ... Diagnosis = clinical ... or sed rate): Value ... required +/- prompt ophthalmology
Orbital Apex Syndrome secondary to Herpes Zoster Ophthalmicus (HZO)

This 81 yo male was referred to our
TID and started on ... is a rare complication ... Ophthalmicus #HZO #clinical ... #video #ophthalmology ... #physicalexam #neurology
Gitelman Syndrome Overview

What?
• Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter
• Gitelman's syndrome
membrane of cells on ... tubule (DCT) Clinical ... Hypocalciuria (spot ... diarrhea Potential Complications ... #management #pathophysiology