18 results
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
Gaucher Disease ... Pathophsiology ... involvement (type 2 and 3) ... #Diagnosis #Signs ... #Symptoms
Pott's Disease in Tuberculosis - Diagnosis and Management Summary
Epidemiology:
 - Typically from TB endemic areas
 -
Pott's Disease in ... cases Clinical Signs ... years - May have signs ... pulmonary TB PE ... decreased reflexes Pathophysiology
Systemic Sclerosis (Scleroderma)
Multi-system autoimmune disease characterized by vasculopathy and progressive fibrosis of skin and internal organs
3
internal organs 3 ... skin thickening Signs ... and Symptoms: ... ), PAH (pulmonary ... rheumatology #diagnosis #signs
Meralgia paresthetica: Pathogenesis and Clinical Findings
Compression/injury of Lateral Femoral Cutaneous Nerve (LFCN) -> Meralgia paresthetica
 •
spontaneous within 3- ... intervertebral disc disease ... MeralgiaParesthetica #MSK #pathophysiology ... differential #diagnosis #signs ... #symptoms
Sarcoidosis
Stage 1 - Bilateral LAD without involvement of lung parenchyma
Stage 2 - Bilateral LAD with involvement
parenchyma Stage 3 ... 4 - Fibrosis Pulmonary ... interstitial lung disease ... Stages #Staging #Signs ... #Symptoms #Summary
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Signs of immunodeficiency ... may appear 3-9 ... humoral immunity Signs ... /Symptoms/Findings ... Agammaglobulinemia #XLinked #pathophysiology
Features of a Sickle Cell Crisis 
Sickle-cell disease - an autosomal recessive blood disorder.
Characterized by red
Sickle-cell disease ... The underlying pathophysiology ... precursors). 3) ... Crisis #Features #Signs ... #Symptoms
Rheumatoid arthritis (RA): Extra-articular manifestations
Skin: 
 • Inflammation of skin (esp. over areas of stress) forms
interstitial lung disease ... /pulmonary fibrosis ... RheumatoidArthritis #RA #pathophysiology ... #signs #symptoms
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... of UMN and LMN signs ... of UMN and LMN signs ... both UMN and LMN signs ... EMG: LMN Signs in
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... Pulmonary: dyspnea ... acute sarcoidosis Pulmonary ... Diagnosis #Management #Signs ... #Symptoms