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