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16 Cards in this Set
- Front
- Back
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What is the difference between Bullous Pemphigoid and Pemphigus?
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BP - bullae, pruritis, elderly - anti epidermal BM - water filled sacs - don't disrupt the BM
P - Nikolskys sign - sloughing skin - oral lesions - anti keratocyte - lose epidermis |
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What is the difference between Wegeners and Goodpastures?
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WG - C-ANCA, more respiratory involvement - sinusitis, glomerulonephritis
GS - Anti-GBM, severe glomerulonephritis, pulmonary hemorrhage, dyspnea, hemoptysis, hematuria |
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What are the different types of Amyloid and what are they associated with?
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AL - light chain - excess light chains produced in MM and Waldenstroms
AA - amyloid associated protein - chronic inflammation, aging ABeta - beta protein - produced by gene on Chromosome 21, deposited in brain in Alzheimers |
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What are the types of Hypersensitivites?
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Type 1 - IgE mediated - after first contact - pollens, drugs, food, etc
Type 2 - antibody mediated cytotoxicity - cell death by AB - forms MAC - Rh antigens, DLE/SLE, goodpastures, RF Type 3 - immune complex deposition - vaccines, inhaled antigens - serum sickness, post-strep, arthus reation, RA, SLE Type 4 - cell mediated - accumulation macrophages and tcells - delayed type, tb, contact derm, acute graft rejection, etc |
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What are the different types of transplant rejections?
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hyper - preformed ab bind to antigen on tissue - type 1 hypersensitivity - minutes to hours
Acute - memory Tcells recognize antigen - CD8 destroy graft - Type 4 hypersensitivity - days to months Chronic - AB deelop over time and damage graft - Type 2/3 hypersens - months to years GVH - t cells in transplant tissue attacks host = Type 4 - days to weeks |
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Important oncogenes:
c-myc c-abl abl |
cmyc - burkitt lymphoma
cabl - chronic myelogenous leukemia (CML) ras - colon carcinoma don't want these activated, will cause cancer |
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Important tumor suppressors:
BRCA1 p53 |
BRCA1 - breast cancer/ovarian cancer
p53 - breast, colon, lung want these active to prevent cancer |
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Metastases chart
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Most common primarty source for bone tumors is breast and less common is lung.
Most common source for metastatic brain cancer is lung. Less common is breast. |
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What are the facts to know for Genetic Pedigrees?
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AD - never skips a generation. only takes 1 gene
AR - variable. can get from mom/dad - takes 2 genes XD - NO male to male and never skips a generation XR - NO male to male transmission |
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X-linked Dominant inheritance examples:
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50% sick, 50% healthy
Hyperphosphatemic rickets - inherited VitD resistance - bowed legs. Cant give Vit D to treat. Incontinentia pigmenti - mini-teeth and patchy alopecia - well spaced teeth, area of hair loss. |
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What is De Novo Mutation?
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"of new mutation"
healthy parents but get a spontaneous mutation. Later generations would just be the normal AD,AR, etc. |
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Mitochondrial Inheritance?
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inherited from mother. Retina, brain, skeletal muscle most affected.
Leber's optic neuropathy (bilateral blindness with onset after 15) |
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What is phenylketonuria
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Autosomal Recessive
unable to metabolize phenylalanine (from diet) - build up of phenylalanine break-down products and inability to make melanin, NE, or EPI. Results in neurotox from phenylalanine products Lighter complexion from decreased melanin |
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Glycogen Storage Diseases?
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Von Gierke Disease, Pompe disease, McArdle disease.
inability to utilize glucose normally won't have ready supply of glucose from glycogen. hypoglycemic between meals |
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Mucopolysaccharidoses?
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Hurler, Scheie - AR
Hunter - XR lysosomal storage disease can't break down GAGs, a critical component of connective tissue mental retardation, corneal clouding. cosmetic deformities - gargoyle like facies |
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Sphigolipidoses?
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Niemann-Pick, Gauchers, Krabbe's, Tay-Sachs, Metachromatic dystrophy, Fabry (XR)
lysosomal storage diseases unable to metabolize sphingolipids, typically involved with myelin and CNS. serious CNS disorders - destruction of normal metabloic pathways (except fabry) |
