839 results
diagnosis symptoms signs management differential endocrinology cardiology pharmacology nephrology syndrome hematology algorithm causes infectiousdiseases msk complications lifecycle ophthalmology hepatology peds
Melanoma Pathogenesis Environmental exposure (UV light) + genetic susceptibility (CDKN2A, CDK4, MC1R, BRAF, p16/ARF genes) → accumulation
accumulation of genetic mutations ... #Pathophysiology
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 ... AlzheimersDisease #Dementia #pathophysiology
Tweetorial - Why do we use multiple drugs to active treat tuberculosis (TB)? I’ve often heard it’s
it’s because of mutations ... acquire so many mutations ... Medications #Tweetorial #Pathophysiology
Gitelman Syndrome Pathophysiology Gitelman Syndrome is a rare autosomal recessive salt-losing tubulopathy with a prevalence of 1-
Gitelman Syndrome Pathophysiology ... to inactivating mutations ... Gitelman #Syndrome #Pathophysiology
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
Retinitis Pigmentosa: Pathogenesis and Ocular Manifestations • Inherited mutation of rhodopsin gene -> Mode of inheritance
• Inherited mutation ... X-Iinked • Sporadic mutation ... RetinitisPigmentosa #pathophysiology
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations Risk Factors: - Unclear environmental triggers (may be viral, not
HLA-DR4 mutation ... Temporal #Arteritis #Pathophysiology
Systemic Lupus Erythematosus (SLE): Pathogenesis • Genetic factors (Mutations in HLA- DR2/HLA-DR3 genes, complement genes, cytokine
Genetic factors (Mutations ... Erythematosus #SLE #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
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