20 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
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
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
Multi-system autoimmune disease ... internal organs 3 ... skin thickening Signs ... and Symptoms: ... ), PAH (pulmonary
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
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
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
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
epidemiology of this disease ... history of the disease ... may appear 3-9 ... /Symptoms/Findings ... Agammaglobulinemia #XLinked #pathophysiology
Nontuberculous Mycobacteria (NTM) Infections 

Mycobacterial species other than those belonging to the Mycobacterium tuberculosis complex and
Illnesses: • Pulmonary ... Hematologic malignancy 3. ... gastrointestinal symptoms ... • Clinical (Symptoms ... differential #diagnosis #infectiousdiseases