18 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 ... , sleep apnea, cor ... pulmonale #PraderWilli
Neuromyelitis Optica (NMO) - Clinical Manifestations
 • Optic neuritis: Reduced visual acuity, ranging from mild to
Optica (NMO) - Clinical ... desaturation, Scotoma, Ocular ... Comorbid autoimmune disorders ... diagnosis #neurology #symptoms ... #signs
Clinically Important Vitamins and Vitamin Deficiency States
Fat-soluble Vitamins: 
 • Vitamin A - Xerophthalmia, night blindness,
Clinically Important ... - Coagulation disorder ... Wernicke-Korsakoff syndrome ... #diagnosis #signs ... #symptoms #nutrition
Behçet's Syndrome
Systemic disease associated with inflammation of multiple organs, small-vessel vasculitis and large-vessel vasculopathy
Epidemiology:
 • Young
association • M > F Clinical ... (Clinical Dx). ... Behcet disease) Differential ... diagnosis #management #signs ... #symptoms #rheumatology
Myasthenia Gravis Overview

Myasthenia Gravis is an autoimmune disorder of the postsynaptic neuromuscular junction.  Ab to
an autoimmune disorder ... Ocular- 50%: Ptosis ... life-threatening Differential ... test - Cogan sign ... - Peek sign
Spinal Cord Disorders - Differential Diagnosis Framework

Spinal cord neurological lesion:
Clinical findings:
 • Symptoms and signs below
Spinal Cord Disorders ... - Differential ... neurological lesion: Clinical ... and signs below ... MCTD, Sjogren syndrome
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
renal failure Clinical ... e.g. incidental CXR ... Pulmonary: dyspnea ... acute sarcoidosis Pulmonary ... Diagnosis #Management #Signs
Vasculitis and Vasculitides - Differential Diagnosis Framework

When to Consider Vasculitis:
 • Purpura, ischemic skin lesions
 •
Vasculitides - Differential ... disease, and ocular ... • Cogan Syndrome ... Presentation - Systemic Symptoms ... purpura: strong sign
Bronchiectasis - Summary

What?
• Bronchiectasis is derived from the Greek words bronckos meaning airway and ectasis meaning
inflammation Symptoms ... • Mounier-Kuhn syndrome ... dyskinesia • Young syndrome ... Nasal polyps and signs ... #differential #
Vasculitis - Differential Diagnosis Framework

When to Consider Vasculitis:
• Purpura, ischemic skin lesions
• Mononeuritis multiplex
• Hematuria, proteinuria,
Vasculitis - Differential ... Vasculitis Differential ... Presentation: Systemic Symptoms ... purpura: Strong sign ... • Progressive symptoms