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12 Cards in this Set
- Front
- Back
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What is the difference between Bernard-Soulier Disease and Glanzmann's Thrombasthenia?
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BSD is a due to a lack of GpIb which is need for platelet adhesion to VWF
GT is due to a lack of GpIIbIIIa which is needed foro platelet to platelet adhesion |
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What is the only bleeding disorder that effects both Factor 8 and platelets?
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Von Willebrand Disease
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Which Phacomatose disease results in hearing loss? why?
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NF2
results in Schwannomas which tend to be on CN8 - results in hearing loss |
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What is Von-Hippel Lindau disease? What is it's biggest risk?
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Capillary hemangiomas in cerebellum and retina. Has cysts on liver, kidney, and pancreas
Risk for renal cell carcinoma |
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What is Fabry disease
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A type of sphingolipidosis (only one that is XR). due to decreased alpha-galactosidase A.
characterized by angiokeratomas (wart-like growths with telangiectasias) and renal failure. |
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What is the difference between Duchenne and Becker muscular dystrophy?
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DMD - LACK of dystrophin. very high CK and proximal muscle weakness, eventual muscle atrophy.
BMD - less severe, slowly progressing. DECREASED levels of dystrophin |
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What is the difference between Prader-Willi and Angelman?
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Both involve deletion of portion of chromosome 15.
PW - paternal - severe hypotonicity as infant, obese, mental retardation A - maternal - lots of smiles, wide gate & ataxia, mental retardation, inappropriate laughter. |
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What are the different diseases associated with DR2, DR3, and DR4?
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2 - Narcolepsy, MS, Type 1 DM
3 - SLE, Type 1 DM, Celiac Dx 4 - Rheumatoid arthritis, Juvenile rheumatoid Arthritis |
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What are the 4 types of nephropathy involved with SLE?
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Mesangial (type 1) - most common and mildest
Focal proliferative nephritis (type 3) diffuse prliferative nephritis (class 4) - most severe 4 - membranous glomerulonephropathy (type 5) |
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What is the difference between CREST and Progressive Systemic Sclerosis?
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C - focal sclerosis - sclerosis only effecting certain areas.
PSS - systemic sclerosis - sclerosis effecting the whole body. |
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What is Hyper-IgM syndrome
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inability of B cells to class switch from IgM to IgG. Results in severe, recurrent pyogenic infections.
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How does malnutrition cause immunodeficiencies?
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proteins (antibodies and complement) can't be made with poor protein consumption - results in pyogenic bacterial infections.
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