12 results
diagnosis pathophysiology symptoms clinical disease genetics physicalexam treatment video 21hydroxylasedeficiency 21ohd acutelimbischemia agammaglobulinemia ali apc arterial arteritis attack cli differential
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
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 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
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