Monique Shared "1st Aid - Biochemistry" - 98 Picmonics
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Type II associated with Endometrial, Ovarian and Skin Cancers
3-2-1 Rule
3 Relatives with Colon Cancer
Occurs Across 2 Generations
1 Relative Diagnosed < 50 Years Old
Treatment
Frequent Screening
Colectomy
3 mins
Ataxia Telangiectasia
Pathophysiology
Autosomal Recessive
ATM Gene
Defect in DNA repair
Signs & Symptoms
Cerebellar defects
Spider Angiomas
Sensitive to Radiation
Defective Tumor Suppressor Gene
Increased risk of Cancer, Leukemias, and Lymphomas
Increased AFP levels
IgA deficiency
Repeated sinopulmonary infections
2 mins
Fanconi Anemia
Most common form of inherited aplastic anemia
Caused by inherited defects in non-homologous end-joining
Signs and Symptoms
Hypopigmented Areas of Skin
Cafe au lait spots
Microcephaly
Thumb abnormalities
Elevated serum AFP in 50% of cases
Increased HbF (Fetal Hemoglobin)
Diagnosis
Culturing lymphocytes and observing extensive chromosomal breakage in the presence of DNA cross-linking agents
Risk of developing
Acute myelogenous leukemia (AML)
Myelodysplastic syndrome
Squamous cell carcinoma of head, neck, or vulva
Treatment
Treatment
Dactinomycin (Actinomycin D)
Indications
Wilms' Tumor
Rhabdomyosarcoma
Ewing's Sarcoma
Gestational Trophoblastic Malignancy
Mechanism
Intercalates DNA
Side Effect
Myelosuppression
1 min
Rifampin
Tuberculosis (TB)
Blocks RNA Polymerization
Haemophilus influenzae Type B
Leprosy
Meningitis
P450 inducer
Red-orange urine
55 secs
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