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

When to Consider Vasculitis:
 • Purpura, ischemic skin lesions
 •
Vasculitides - Differential ... disease, and ocular ... to exclude are infections ... Presentation - Systemic Symptoms ... purpura: strong sign
Nontuberculous Mycobacteria (NTM) Infections 

Mycobacterial species other than those belonging to the Mycobacterium tuberculosis complex and
Nodular or ... Lady Windermere Syndrome ... : • Syndrome of ... Disease: Clinical ... #differential #
Myasthenia Gravis Overview

Myasthenia Gravis is an autoimmune disorder of the postsynaptic neuromuscular junction.  Ab to
Ocular- 50%: Ptosis ... life-threatening Differential ... test - Cogan sign ... - Peek sign ... precipitated by: Drugs, infection
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
Differential diagnosis of the reversed halo sign (RHS). AIA, angioinvasive aspergillosis; AIS, adenocarcinoma in situ; COP,
Differential diagnosis ... reversed halo sign ... pneumonia; PZ, pulmonary ... immunedeficiency syndrome ... hypersensitivity pneumonitis, infection