4 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Anterior ischemic optic neuropathy (AION) - Recognition of giant cell arteritis (GCA)

1) Is visual loss caused
Is visual loss caused ... hypofluorescence 2) ... Doppler US : halo sign ... GiantCellArteritis #GCA #Rheumatology ... Ophthalmology #Diagnosis #Algorithm
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 ... #genetics #endocrinology ... #peds #pediatrics
Vasculitis and Vasculitides - Differential Diagnosis Framework

When to Consider Vasculitis:
 • Purpura, ischemic skin lesions
 •
tract, and often causes ... Presentation - Systemic Symptoms ... purpura: strong sign ... vasculitis) - 2 ... #classification