6055 results
differential algorithm management causes clinical cardiology radiology pulmonary pocus signs table comparison neurology pathophysiology classification peds nephrology hematology pediatrics syndrome
Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
Syndrome - Signs and Symptoms ... - Caused by mutations ... Marfans #Syndrome #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 ... pathophysiology #geriatrics #diagnosis ... #signs #symptoms
Cystic Fibrosis An autosomal recessive condition. Mutations affect a specific gene on chromosome 7. The affected
Mutations affect ... CysticFibrosis #Signs #Symptoms ... #Diagnosis
Gardner's Syndrome Multiple pre-malignant colonic polyps with soft tissue & bony tumours. Associated with mutation to the
Associated with mutation ... APC #Polyposis #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 ... ophthalmology #diagnosis ... #signs #symptoms
Gaucher Disease Pathophsiology • Lysosomal storage disorder • Deficiency of ß-glucocerebrosidase • Accumulation of glucosylceramide in macrophages Diagnosis
in macrophages Diagnosis ... ß-glucocerebrosidase activity • Mutation ... Gauchers #Disease #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 ... Pathophysiology #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 ... LongQT #Syndrome #Diagnosis
Polycythemia Vera (PV) - Diagnosis and Management Summary Diagnostic Criteria: • Elevated hemoglobin and/or hematocrit AND •
Polycythemia Vera (PV) - Diagnosis ... Management Summary Diagnostic ... growth AND • JAK2 mutation ... When present, symptoms ... • "Vasomotor" symptoms
Essential Thrombocythemia (ET) ET is a chronic myeloproliferative neoplasm. Most cases are related to mutations that affect
are related to mutations ... When present, symptoms ... • "Vasomotor" symptoms ... Splenomegaly Diagnosis ... ET-associated mutation
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