First Aid- Biochemistry

  1. Chediak-Higasi syndrome
    Microtubule polymerization defect. Decreases phagocytosis. Causes recurrent pyogenic infections, partial albinism, and peripheral neuropathy.
  2. Mebendazole/thiabendazole
    • acts on microtubules
    • antihelminthic
  3. Griseofulvin
    • antifungal
    • acts on microtubules
  4. Vincristine/vinblastine
    • anti-cancer
    • acts on microtubules
  5. Paclitaxel
    • anti-cancer drug
    • acts on microtubules
  6. Colchicine
    • anti-gout
    • acts on microtubules
  7. Kartagener's syndrome
    immotile cilia due to a dynein arm defect. Causes infertility, bronchiectasis, and recurrent sinusitis, assoc with situs inversus.
  8. vimentin IHC stain
    connective tissue
  9. desmin IHC stain
  10. cytokeratin IHC stain
    epithelial cells
  11. GFAP IHC stain
  12. Neurofilaments IHC stain
  13. Synthesis of Collagen
    • Inside fibroblasts- synthesis, hydroxylation, glycosylation, exocytosis
    • Outside- proteolytic processing, and cross-linking.
  14. Type 1 collagen (90%)
    BONE, Skin, Tendon, dentin, fascia, cornea, late wound repair.
  15. Type II- Collagen
    Cartilage (including hyaline), vitreous body, nucleus pulposus.
  16. Type III- Collagen
    Reticulin- skin, blood vessels, uterus, fetal tissue, granulation tissue
  17. Type IV- Collagen
    Basement membrane
  18. Ehlers- Danlos syndrome
    • Type III collagen most commonly affected.
    • Faulty collagen synthesis
    • hyperextensible skin, easy bleading and brusiing, hypermobile joints. (berry anuerysms, organ rupture, joint dislocation).
  19. osteogenesis imperfecta
    • Autosomal dominant with abnormal type 1 collagen.
    • Presents with
    • multiple fractures
    • blue sclera- bc CT translucent over choroid
    • Hearing loss- middle ear bones abnormal
    • Dental imperfections- bc dentin impaired.
  20. Alport's syndrome
    • Abnormal type IV collagen. X-linked recessive.
    • Progressive heriditary nephritis and deafness, maybe ocular disturbances.
  21. Elastin
    • Stretchy protein
    • Lots of proline and glycine, non-glycosylated.
    • Tropoelastin with fibrillin scaffolding.
    • degraded by elastase
    • Marfans- defect in fibrillin
  22. Hardy Weinberg Law assumptions
    • 1. No mutation occuring at the locus
    • 2. No selection for any of the genotypes at the locus
    • 3. Completely random mating
    • 4. No migration
  23. H-W disease prevalence
    p2 + 2pq + q2= 1
  24. H-W allele prevalence
  25. Hypophosphatemic rickets aka vitamin d resistant rickets
    x-linked dominant, increased phosphate wasting at proximal tubule. Vitamin D is ineffective. Causes short stature, genus varum (bow-leggedness).
  26. Mitochondrial myopathies, Leber's herediatary optic neuropathy
    • degeneration of retinal ganglion cells and axons, leads to acute loss of central vision.
    • Mitochondrial inheritance- so has variable expression due to heteroplasmy.
  27. Achondroplasia
    cell-signaling defect of FGF receptor 3, (fibroblast growth factor). Assoc with advanced paternal age.
  28. ADPKD- Autosomal dominant polycystic kidney disease.
    • Always bilateral, massive enlargment of kidneys bc of large cysts. Patients present with flank pain, hematuria, hypertension, progressive renal failure.
    • 90% caused by mutation in chr 16 APKD1. Assoc with berry anuerysms, polycystic lievr disease, mitral valve prolapse. If in infants, its recessive.
  29. Familial Adenomatous Polyposis
    Adenomatous polyps cover colon after puberty. Progresses to colon cancer unless resected. Deletion on chr 5 (APC) gene.
  30. Familial hypercholesterolemia (hyperlipidemia type IIA)
    Defective or absent LDL receptor, causes increase in LDL. Homozygotes cholesterol = + 700mg/dl. Heterozygotes= 3000mg/dl. MI before age 20.Tendon xanthomas
  31. Hereditary spherocytosis
    Spheroid erythrocytes bc of defect in spectrin or ankyrin. Hemolytic anemai. Splenectomy is curative.
  32. MEN- Multiple Endocrine Neoplasias
    Familial tumors of endocrine glands, pancreas, parathyroid, pituitary, etc. MEN2A and 2B are assoc with ret gene. Several types exist.
  33. cafe au lait spots, Lish nodules, neural tumors, scoliosis, optic pathway gliomas, phepchromocytoma, and increased tumor susceptibility. Long arm of chr 17.
    • Neurofibromatosis 1 (von recklinghausen
    • s disease)
  34. Tuberous sclerosis
    facial lesions, hypopigmented "ash leaf spots on skin, cortical and retinal hamartomas, seizures, MR, renal cyts, and renal angiomyolipomas, cardiac rhabdomupmas, increase astrocytomas. Incomplete penetrance, variable representation. mutations in tumor growth suppressors.
  35. von Hippel-Lindau disease
    deletion of VHL gene (tumor supressor) on chr 3. causes consititutive expression of HIF (transcription factor) and activation of angiogenic growth factors. Hemangioblastomas of retina/cerebellum/medulla; and half of affected persons develop multiple bilateral renal cell carcinomas and other tumors.
Card Set
First Aid- Biochemistry
biochem notecards from first aid for step 1