15 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
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
Differentiation Syndrome in APML
Epidemiology:
 • Incidence: common in APL (2-48% depending on the study)
 • Triggers:
Differentiation Syndrome ... common • Imaging: CXR ... - pulmonary opacities ... Diagnosis: >3 symptoms ... initiation • Differential
Vasculitis and Vasculitides - Differential Diagnosis Framework

When to Consider Vasculitis:
 • Purpura, ischemic skin lesions
 •
Vasculitides - Differential ... disease, and ocular ... Presentation - Systemic Symptoms ... purpura: strong sign ... #diagnosis #rheumatology
Vasculitis - Differential Diagnosis Framework

When to Consider Vasculitis:
• Purpura, ischemic skin lesions
• Mononeuritis multiplex
• Hematuria, proteinuria,
Vasculitis - Differential ... Presentation: Systemic Symptoms ... purpura: Strong sign ... • Progressive symptoms ... #Diagnosis #Rheumatology
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
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 #
Rheumatoid Arthritis - Signs and Symptoms
 • Ocular: Keratoconjunctivitis sicca, Episcleritis, Scleritis, Scleromalacia perforans
 • Pulmonary:
and Symptoms • ... Ocular: Keratoconjunctivitis ... Scleromalacia perforans • Pulmonary ... Thrombocytosis, Felty's syndrome ... #rheumatology
Cryofibrinogenemia Summary

Cryofibrinogenemia Epidemiology:
 • 40-70 years with a modest female predominance

Cryofibrinogenemia:
 • The precipitation of a
Cryofibrinogenemia Symptoms ... thrombophlebitis, pulmonary ... emboli, and ocular ... Diagnosis: • + Clinical ... Antiphospholipid syndrome
Antinuclear Antibodies (ANA)
ANA or Anti-NucIear Antibody refers to antibodies against antigens in the nucleus → like
context of other symptoms ... likely it will be clinically ... , Interstitial Pulmonary ... ANA #patterns #rheumatology ... #diagnosis #differential