12 results
Gardner's Syndrome
Multiple pre-malignant colonic polyps with soft tissue & bony tumours. Associated with mutation to the
Associated with mutation ... Polyposis #Diagnosis #Signs
Limb-Shaking Transient Ischemic Attack (LS-TIA)

Limb shaking Transient Ischemic Attack (LS-TIA) during transient occlusion of the right
right ICA during angioplasty ... Ischemic #Attack #LSTIA ... intraoperative #vascular #angioplasty
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
findings • Sporadic mutation ... • Inherited mutation ... Retinoblastoma Signs ... ophthalmology #diagnosis #signs
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations
Risk Factors:
 - Unclear environmental triggers (may be viral, not
HLA-DR4 mutation ... yrs old; F>M Signs ... Pathophysiology #Diagnosis #Signs
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
ß-glucocerebrosidase activity • Mutation ... Disease #Diagnosis #Signs
Acute limb ischemia (ALI)

Rapid decrease in lower limb blood flow due to acute occlusion of peripheral
of guide wires, angioplasty ... #CLI #heparin #amputation
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
arises via sporadic mutation ... Signs of immunodeficiency ... Predisposition -> Mutation ... humoral immunity Signs
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Autosomal recessive mutation ... Signs/Symptoms/Complications
Duchenne Muscular Dystrophy (DMD)
The term "Muscular dystrophy" refers to a group of inherited progressive muscle disorders.
spontaneous new mutation ... Diagnosis #Features #Signs
Polycythemia Vera (PV) - Diagnosis and Management Summary
Diagnostic Criteria:
 • Elevated hemoglobin and/or hematocrit AND
 •
growth AND • JAK2 mutation ... present, symptoms, signs