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20 Cards in this Set
- Front
- Back
What is damaged in familiar hypercholerolemia?
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Receptor.
There are several possible defects, classified according to the stage in the synthesis at which they occur. |
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What is damaged in Thalassemia?
hemoglobinopathies? |
Thalassemia: quantity.
Hemoglobinopathies: Quality. |
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What is defected in Marfan syndrome?
Mode of inhertiance? |
FBN1 gene- created damaged Fibrillin1 that disrupts assebly of normal microfibrils.
AD. |
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What are the symptoms of Marfan?
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Tall.
Lower ratio of upper/lower segments. Bilateral ectopia - INDICATIVE. Dilation of aorta- AORTIC DISSECTION. |
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What is defected in EDS?
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Synthesis of fibrillar collagen- it lacks tensile strength.
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Types of EDS?
(4) |
Kiphoscoliosis: Lysyl Hydroxylase.
Vascular: Collagen III. Arthiochalasia: Collagen I. Classic: Collagen V. |
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Why are lysosomal storage diseases problematic?
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Lysosomes get large enough to interfere with normal cell functions.
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Tay-Sachs- what is accumulated? Which type of stain?
Life span? |
GMs ganglioside.
Stains for fat. 6m-3y. |
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Neimann-Pick- what is accumulated in each type?
Which type of stain/ |
A,B: Sphingomyelin.
C: Cholesterol. Stains for fat. |
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When do symptoms appear in Gaucher, type I?
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During adult life, d/t splenomegaly and bone problems.
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What is Chitodriosidase?
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Enzyme synthesized by macrophages.
Markedly elevated in patients with Gaucher. |
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What are the symptoms of MPS?
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Severe somatic and neurologic damage-
Hepatosplenomgealy, skeletal deformities, subendothelial arterial (coronary) deposits, lesions in brain. Increased urine excretion of MPS. |
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What is the mode of inheritance for MPS?
Which type of stain? |
AR, except for Hunter- XR.
PAS. |
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How is Neurofibromatosis inherited?
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Usually AD.
Encodes for a tumor suppressor gene. |
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What happens in Neurofibromatosis 1?
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1. Neural tumors anywhere (in nerves- proliferation of everybody- schwann, fibroblasts..).
2. Cafe au lait spots. 3. Pigmented iris hamartomas. |
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What happens in Neurofibromatosis 2?
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Schwannomas, meningiomas, BILATERAL.
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what accumulates in Gaucher
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Glucocerebrosidase (G for G!).
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What are MPS?
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GAG
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What happens in alkoptonuria?
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Lack of Homogentisic oxidase leads to accumulation of Homogentisic Acid.
Degenerative arthropathy, crippling. |
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What happens in Neimann Pick C?
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Accumulation of Cholesterol.
Causes atrophy of terminal axons and dendrites. |