1906 results
diagnosis clinical sign physicalexam video management pocus cardiology differential neurology radiology pathophysiology algorithm pulmonary ultrasound msk syndrome pediatrics treatment endocrinology
Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
Marfan Syndrome - Signs ... and Symptoms ... - Caused by mutations ... 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 / Complications ... #symptoms
Gardner's Syndrome Multiple pre-malignant colonic polyps with soft tissue & bony tumours. Associated with mutation to the
Associated with mutation ... Polyposis #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
Retinoblastoma: Pathogenesis and clinical findings • Sporadic mutation -> One allele of RB1 tumor suppressor gene
findings • Sporadic mutation ... • Inherited mutation ... Retinoblastoma Signs ... / Symptoms / Complications ... #symptoms
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations Risk Factors: - Unclear environmental triggers (may be viral, not
HLA-DR4 mutation ... yrs old; F>M Signs ... /Symptoms: - Fever ... Pathophysiology #Diagnosis #Signs ... #Symptoms #Vasculitis
Gaucher Disease Pathophsiology • Lysosomal storage disorder • Deficiency of ß-glucocerebrosidase • Accumulation of glucosylceramide in macrophages Diagnosis
ß-glucocerebrosidase activity • Mutation ... Disease #Diagnosis #Signs ... #Symptoms
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 ... /Symptoms/Findings
Polycythemia Vera (PV) - Diagnosis and Management Summary Diagnostic Criteria: • Elevated hemoglobin and/or hematocrit AND •
growth AND • JAK2 mutation ... When present, symptoms ... , signs, and complications ... • "Vasomotor" symptoms ... the reduction of symptoms
Pseudogout: pathogenesis and clinical findings - Idiopathic (vast majority of cases) -> Mechanism unknown - Familial
NTPPPH enzyme and mutations ... CPPD #Disease #Signs ... #Symptoms #Pathophysiology
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