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29 Cards in this Set
- Front
- Back
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(1) hydroxyurea
(2) 6mercaaptopurine (3) 5 fluorouracil (4) methotrexate (5) trimethoprim |
5.
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AA's required for the synthesis of purines
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Glycine, aspartate, glutamine
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Precursors molecules for:
(A) purines (B) pyrimidines |
(A) Purines are derived from IMP
(B) Pyrimidines are derived from orotate |
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MOA for fluoroquinolones
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Inhibit DNA gyrase
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Xeroderma pigmentosum:
(A) defect (B) clinical presentation |
(A) Defect in nucleotide excision repair
(B) Results in dry skin with melanoma and other cancers, "children of the night". |
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Defect in hereditary nonpolyposis colorectal cancer (HNPCC)
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Defect in mismatch repair.
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MOA of the following antibiotics:
(A) Aminoglycosides (B) Chloramphenicol (C) Macrolides (D) Clindamycin |
(A)Aminoglycosides: inhibit formation of the initiation complex and cause misreading of mRNA
(B) Chloramphenicol: Inhibits 50S peptidyltransferease (C) Macrolides: binds 50s and blocks translocation (D) Clindamycin: binds 50s and blocks translocation |
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I Cell Disease
(A) Defect (B) Clinical presentation |
(A) Inherited lysosomal storage disorder; failure of addition of mannose-6-phosphate to lysosome proteins (enzymes are secreted outside the cell instead of being targeted to the lysosome).
(B) Coarse facial features, clouded corneas, restricted joint movement, high plasma levels of lysosomal enzymes. Often fatal in childhood. |
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Chediak-Higashi Syndrome
(A) Defect (B) Clinical presentation |
(A) Microtubule polymerization defect (decr phagocytosis)
(B) Recurrent pyogenic infections, partial albinism, recurrent sinusitis (bacteria and particles not pushed out); associated with situs inversus. |
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MOA of:
Ouabain Cardiac glycosides |
-Ouabain: inhibits NaK ATPase by blocking K+ site
-Cardiac glycosides (digoxin): Inhibit NaKATPase directly which leads to indirect inhibition of Na/Ca exchange which increases intracellular Ca2+ and increased cardiac contractility. |
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Ehler's Danlos Syndrome
(a) Defect (b) Inheritence pattern (c) Clinical Presentation (d) clinical associations |
(a) Faculty collagen synthesis
(b) 6 types (type III collagen most frequently affected). Maybe be AD or AR. (c) Hyperextensible skin, tendency to bleed (easy bruising), hypermobile joints. (d) joint dislocation, berry aneurysms, organ rupture. |
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Osteogenesis Imperfecta
(a) defect (b) Inheritence pattern (c) clinical presentation of type I |
(a) abnormal type I collagen
(b) most commonly AD (c) Multiple fractures w/minimal trauma (may occur during birth), blue sclerae due to tranluscent CT over choroid, hearing loss (abnormal ossicles,), dental imperfections (lack of dentin) NOTE: Type II fatal |
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Alport's syndrome
(a) defect (b) inheritence pattern (c) clinical presentation (d) clinical associations |
(a) may be due to a variety of gene defects resulting in abnormal type IV collagen (important to BM of kidney, ears, eyes)
(b) Usually XL (c) progressive hereditary nephritis and deafness (d) ocular defects |
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Marfan's Syndrome defect
-presentation |
AD Defect in fibrillin.
Skeeltal abnormalities (tall w/hyperextensible joints) Subluxation of lens CV defects (cystic medial necrosis, dissecting aortic aneurysm, valvular insufficiency) |
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Emphysema (inheritable) defect
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Defect in alpha1 antitrypsin deficiency, resulting in excess elastin.
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Kartagener's syndrome
(a) defect (b) presentation |
(a) immotile cilia due to dynein arm defect
(b) infertility, bronchiectasis, recurrent sinusisits, assoc w/situs inversus |
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Associated cytoskeletal element:
Microvilli, muscle contraction, cytokinesis, adhering junctions |
Actin and myosin
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Associated cytoskeletal element
Cilia, flagella, mitotic spindle, neurons, centrioles |
Microtubule
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Associated cytoskeletal element
Vimentin, desmin, cytokeratin, glial fibrillary acid proteins, neurofilaments |
Intermediate filaments
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Stain: vimentin
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Connective tissue
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Stain: desmin
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Muscle
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Stain: cytokeratin
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Epithelial cells
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Stain: GFAP
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Neuroglial
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Stain: neurofilaments
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Neurons
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Ouabain action
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Inhibits Na/K atpase by binding to K+ site
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Type I collagen found in which structures?
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Bone, skin , tendon, dentin, fascie, cornea, late wound repair
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Type II collagen found in which structures?
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Cartilage, vitreous body, nucleus pulposus
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Type III collagen found in which structures?
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Skin, blood vessels, uterus, fetal tissue, granulation tissue
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Type IV collagen found in which structures?
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Basement membrane
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