Metabolic Disorders And Immune System Intro

Front 1

Metabolic disorders are usually inherited in what pattern?

Back 1

Autosomal recessive

Front 2

Hypomyelination, gliosis, microcephaly and no lysosomal storage are all signs of what metabolic disease?

Back 2

Phenylketonuria

Front 3

Decreased pigmentation in hair and skin, seizures and hyperactivity, severe mental retardation are all clinical manifestations of what metabolic disease?

Back 3

Phenylketonuria

Front 4

Deficiency of galactose-1-phosphate uridyl transferase

Back 4

Galactosemia

Front 5

In galactosemia there is an accumulation of

Back 5

G1P, (galactose 1 phosphate)

Front 6

In Tay Sach's disease, there is an accumulation of

Back 6

Gangliosides in the brain

Front 7

Defective enzyme in Tay Sach's disease (GM2 gangliosidis)

Back 7

Hexoaminidiase A alpha subunit

Front 8

Most common amongst Ashkenazi Jews and a small population in Quebec

Back 8

Tay Sachs disease

Front 9

Deficiency in acid sphingomyelase

Back 9

Niemann Pick's Disease

Front 10

Accumulation of sphigomyelin in

Back 10

Niemann Pick's disease

Front 11

Breakdown of sphingomyelin to ceramide and phosphorylcholine impaired leading to accumulation in phagocytic cells and neurons -> massing visceromegaly and neurological disorders

Back 11

Type A Niemann Picks Disease

Front 12

Accumulation of sphingomyelin leading to massive visceromegaly only and no neurological symptoms

Back 12

Type B Niemann Picks

Front 13

The most common underlying cause of acquired metabolic disorders is

Back 13

hypoxia (mostly related to atherosclerotic plaques)

Front 14

Leading cause of blindness is

Back 14

Diabetic retinopathy

Front 15

Accelerated atherosclerosis affecting aorta and large & medium sized arteries leading to myocardial infarcts caused by diabetes

Gangrene in lower extremeties

Diabetic nephropaty

Back 15

Macrovascular disease in diabetes

Front 16

Leading cause of end-stage renal failure leading to kidney transplant

Back 16

Diabetic Nephropathy

Front 17

no new blood vessels are formed but hemorrhaging (bleeding), and complications to the vasculature including venous dilation, capillary thickening, edema, etc.

Back 17

Non-proliferative retinopathy

Front 18

proliferation of cells leading to formation of new blood vessels (neovascularization), fibrosis (connective tissue being laid down), and hemorrhage of these newly formed blood vessels

Back 18

Proliferative retinopathy

Front 19

Squamous metaplasia of special epithelial cells conjunctiva and tear ducts in the eye leading to dryness of cornea and conjunctiva caused by Vitamin A deficienct

Back 19

Xeropthlamia

Front 20

Softened cornea caused by Vitamin A deficiency due to squamous metaplasia of specialized epithelial cells to keratinizing epithelial cells

Back 20

Keratomalacia

Front 21

Keratin debris that build up in the eye forming small opaque spots as a result of the squamous metaplasia induced by Vitamin A deficiency

Back 21

Bitot Spots

Front 22

Fat soluble vitamins

Back 22

A, D, E, K

Front 23

What are the toxic effects of vitamin A buildup?

Back 23

Teratogen

Front 24

Overweight BMI?

Back 24

>25kg/m2

Front 25

Obese BMI

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>30kg/m2

Front 26

Obesity waist cirumference in men and women

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Men > 40 inches

Women > 35 inches

Front 27

Vitamin A's role in night blindness?

Back 27

Component of rhodopsin in retinal rods

Front 28

Components in cells responsible for recognition of pathogens?

Back 28

TLRs in conjuction with CD14

Front 29

MHC class I molecules are expressed on....

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All healthy nucleated cells

Front 30

MHC class I is an

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Inhibitory signal

Front 31

Virus /damaged cells _____________expression of MHC I and _________________expression of activating ligandq

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inhibit expression of MHCI and increase expression of activating ligand

Front 32

Classical complement pathway is part of...

Back 32

adaptive response because it requires antibodies

Front 33

Alternative complement pathway is activated by...

What are the 3 functions?

Back 33

Activated Microbes directly:

1. coating of microorganism

2. Chemokines for phagocytic cells

3. Formation of Membrane Attack Complexes --> pore formation

Front 34

T cells have what type of receptor that is T cell specific?

Back 34

T Cell Receptors

Front 35

CD3 complex are polypeptide chain clusters linked to ...

They (do/do not) recognize antigens directly

Back 35

TCRs that do not recognize antigens directly

Front 36

Associate with TCRs to help induce signalling in cells the T cells after TCRs bind an antigen. DO NOT bind antigen directly

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CD3 complexes

Front 37

Ig that activates complement only

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IgM

Front 38

Ig that activates complement, opsonizes and crosses placenta to protect fetus

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IgG

Front 39

Coats various parasites and chemokine for eosinophils

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IgE

Front 40

CD40L does what

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Stimulates microbicidal substances production in macrophages and Activate B cells

Front 41

IL-2

Back 41

Stimulates proliferation of T cells

Front 42

IFN-gamma

Back 42

Stimulates production of IgG in b cells