86 results
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
Gaucher Disease ... Pathophsiology ... in GBA1 gene Clinical ... #Gauchers #Disease ... #Diagnosis #Signs
Graves’ Disease: Pathogenesis and Clinical Findings
B & T lymphocyte mediated autoimmunity attack TSH receptor -> Continuous
Graves’ Disease: ... Pathogenesis and Clinical ... the etiology Signs ... GravesDisease #pathophysiology ... endocrinology #symptoms #signs
ANTI-MDA5 DERMATOMYOSITIS

Cutaneous manifestations:
• Periorbital heliotrope (blue-purple) rash with edema
• Erythematous rash on the face, or the
or the anterior chest ... (in a V-sign), ... Inverse Gottron’s sign ... auricular papules Clinical ... severity of the disease
Clinical Examination for Liver and Biliary Diseases
1) Hands: Clubbing, Dupuytren's contracture, Leuconychia, Bruising, Flapping tremor (hepatic
Clinical Examination ... Liver and Biliary Diseases ... rings in Wilson's disease ... 3) Chest: Loss ... #signs #diagnosis
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... Pathogenesis and Clinical ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... geriatrics #diagnosis #signs
Differential diagnosis of Langerhans cell histiocytosis.
Nodular LCH:
- Sarcoidosis: perilymphatic distribution.
- Metastases: random distribution.
Cystic LCH:
- LAM: round
Differential diagnosis ... : 'signet ring sign ... central dot. - LIP #Clinical ... Diagnosis #Radiology #CTChest ... Cystic #Cysts #Differential
Portal Hypertension - Differential Diagnosis
Portal Pressure = the pressure difference between the pressure in the portal
Hypertension - Differential ... >10 mmHg - clinically ... significant portal HTN Signs ... • Infiltrative diseases ... Veno-occlusive disease
Primary Hyperthyroidism - Pathogenesis and Clinical Findings

Note: Although rare, gestational diseases can lead to thyrotoxicosis due
Pathogenesis and Clinical ... rare, gestational diseases ... Signs/Symptoms: ... endocrinology #pathophysiology
Primary Sjogren’s Syndrome: Pathogenesis and Clinical Findings
• Primary Sjögren's is a solitary process whereas secondary Sjögren's
Pathogenesis and Clinical ... other autoimmune diseases ... with systemic diseases ... Sjogrens #Syndrome #Pathophysiology ... #Diagnosis #Signs
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
Pathogenesis and clinical ... share the same pathophysiology ... Cardiovascular disease ... Overproduction #diagnosis #signs ... endocrinology #pathophysiology