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diagnosis management signs symptoms neurology ophthalmology syndrome thrombosis treatment vascular 21hydroxylasedeficiency 21ohd acutelimbischemia agammaglobulinemia ali arterial arteritis attack cli clinical
Acute limb ischemia (ALI) Rapid decrease in lower limb blood flow due to acute occlusion of peripheral
pathophysiology: ... of guide wires, angioplasty ... #CLI #heparin #amputation
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 #pathophysiology
Gaucher Disease Pathophsiology • Lysosomal storage disorder • Deficiency of ß-glucocerebrosidase • Accumulation of glucosylceramide in macrophages Diagnosis
Gaucher Disease Pathophsiology ... ß-glucocerebrosidase activity • Mutation
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations Risk Factors: - Unclear environmental triggers (may be viral, not
HLA-DR4 mutation ... Temporal #Arteritis #Pathophysiology
Venous Thrombosis vs Arterial Thrombosis - Differential Diagnosis Framework VENOUS THROMBOSIS • Acquired Risk Factors: - >48 hours
Factor V Leiden mutation ... Prothrombin gene mutation ... Venous #Arterial #pathophysiology
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings The epidemiology of this disease is 1/340,000 births and roughly double
arises via sporadic mutation ... Predisposition -> Mutation ... Agammaglobulinemia #XLinked #pathophysiology
Chronic Thromboembolic Pulmonary Hypertension (CTEPH) and Pulmonary Thromboendarterectomy Chronic Thromboembolic Pulmonary Hypertension Definition: mean pulmonary-artery pressure > 25mmHg
pulmonary embolism Pathophysiology ... Pulmonary-Artery Angioplasty
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Autosomal recessive mutation ... #21HydroxylaseDeficiency #21OHD #pathophysiology
Stiff Person Syndrome (SPS) - Diagnosis and Management Summary Epidemiology: • Prevalence: 1-2 cases per million -
Person Syndrome Pathophysiology ... Severely impaired ambulation ... impairment of ambulation
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