6468 results
differential algorithm clinical management causes cardiology pocus physicalexam sign radiology pulmonary neurology symptoms video table comparison ultrasound pathophysiology pediatrics peds
Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
Marfan Syndrome - Signs ... - 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 ... 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 ... 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 ... yrs old; F>M Signs ... Pathophysiology #Diagnosis ... #Signs #Symptoms
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings The epidemiology of this disease is 1/340,000 births and roughly double
40% of patients diagnosed ... arises via sporadic mutation ... Signs of immunodeficiency ... Predisposition -> Mutation ... humoral immunity Signs
Hemophagocytic Lymphohistiocytosis (HLH) Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
Presentation / Diagnosis ... : HLH signs and ... Diagnosis via genetic ... HLH-associated mutations ... Infection should be diagnosed
Pseudogout: pathogenesis and clinical findings - Idiopathic (vast majority of cases) -> Mechanism unknown - Familial
NTPPPH enzyme and mutations ... CPPD #Disease #Signs ... Pathophysiology #Diagnosis
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