1017 results
diagnosis signs management pathophysiology differential clinical algorithm syndrome treatment neurology cardiology comparison physicalexam video msk table psychiatry disease rheumatology pediatrics
Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
Syndrome - Signs and Symptoms ... - Caused by mutations ... Diagnosis #Signs #Symptoms
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
precursor protein mutations ... Presenilin 1 and 2 gene mutations ... chromosome 21) Signs / Symptoms ... diagnosis #signs #symptoms
Cystic Fibrosis An autosomal recessive condition. Mutations affect a specific gene on chromosome 7. The affected
Mutations affect ... CysticFibrosis #Signs #Symptoms
Gardner's Syndrome Multiple pre-malignant colonic polyps with soft tissue & bony tumours. Associated with mutation to the
Associated with mutation ... Diagnosis #Signs #Symptoms
Retinoblastoma: Pathogenesis and clinical findings • Sporadic mutation -> One allele of RB1 tumor suppressor gene
findings • Sporadic mutation ... • Inherited mutation ... Retinoblastoma Signs / Symptoms ... diagnosis #signs #symptoms
Gaucher Disease Pathophsiology • Lysosomal storage disorder • Deficiency of ß-glucocerebrosidase • Accumulation of glucosylceramide in macrophages Diagnosis
ß-glucocerebrosidase activity • Mutation ... Diagnosis #Signs #Symptoms
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations Risk Factors: - Unclear environmental triggers (may be viral, not
HLA-DR4 mutation ... old; F>M Signs/Symptoms ... Diagnosis #Signs #Symptoms
Congenital Long QT Syndrome: Illness Script Who? - Kids or young adults, usually < 30 - high
live births Symptoms ... arrest/death - Symptoms ... Various channel mutations
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 ... immunity Signs/Symptoms
Polycythemia Vera (PV) - Diagnosis and Management Summary Diagnostic Criteria: • Elevated hemoglobin and/or hematocrit AND •
growth AND • JAK2 mutation ... When present, symptoms ... • "Vasomotor" symptoms ... the reduction of symptoms
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