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Fabry is caused by
dysfunction of metabolism in tissues
Tay Sachs is caused by what?
HEXA gene on Chr 15, needed for breakdown of sphingolipids
Niemann Pick is caused by what and leads to what
defect in cellular lipids movement, leads to mental and motor decline
Lupus (SLE) affects what systems?
kidneys, heart, lungs, joints, skin
Glomerulonephritis
damage to the kidneys
every autoimmune disease represents what?
failure to self tolerance
What inhibits autoimmune reactions
Regulatory T cells
Sympathetic Ophthalmia
granulomatous uveitis after trauma occurs
Is sympathetic Ophthalmia unilateral or bilateral ?
bilateral
What are the major autoimmune diseases
MS, MG, RA
anaphylactic shock
allergen directly enters blood and causes bronchioles to constrict
What are the subacute hypersensitives
cytotoxic reactions (type 2), immune complex (type 3)
What are the delayed hypersensitivities
caused by T cells and take longer (1-3 days)
What are some examples of delayed hypersensitivities?
allergic contact dermatitis- poison ivy, skin type tuberculosis test
What is an example of type 3 (immune complex) hypersensitivity?
famers long, RA, glomerulonephrisitis of Lupus
What antibodies are subacute hypersensitivities caused by
IgG and IgM
What happens during Cytotoxic reactions?
antibodies bind to antigens on specific body cells and stimulate phagocytosis and complement-mediated lysis
What type of hypersensitivity occurs with blood transfusion?
Type 2 (cytotoxic reactions)
What is type 1 hypersensitivity?
IgE mediated, quick onset after exposure
What is an example of type 1 hypersensitivity
bee stings, latex, allergies
allergen
an antigen that causes allergic reaction
What does the acronym ACID stand for
hypersensitivities: Allergic, Cytotoxic, Immune Complex, Delayed
during the first meeting of allergen will a patient have symptoms?
no, but it sensitizes the patient
Do people die of hypersensitivities often?
no
antibodies associated reactions cause what?
immediate and subacute hypersensitivity
T cells cause what type of hypersensitivty?
delayed hypersensitivity
Alpha Gal Syndrome is what type
an acquired type 2 hypersensitivity
What is the hypersensitivity to in alpha gal syndrome?
alpha gal ( a carbohydrate)
what is the strong association between tick bites by what and the hypersensitivity
lone star tick
SCID is what?
don’t make B and T cells
What is blood considered?
a colloid and suspension
why is blood considered a colloid and suspension
it contains ions, proteins, and cells and cells can’t penetrate capillary walls via diffusion
cation
loses electrons
anion
gains electrons
colloid
large particles, does not settle and scatter light
suspension
very large, scatter light and settle sout
solution
very tiny, do not scatter light or settle out
covalent
sharing of electrons
sickle cells causes a change in the structure of protein, what structure is it?
quaternary
ketosis (elevated ketone bodies) is seen where
low car diets and uncontrolled diabetes
are acids or bases worse for your eyes? and Why?
bases- they penetrate deep into the layers
ionic bond
complete transfer of electrons
primary protein structure
long chains held together by covalent (peptide) bonds
Secondary structure
alpha and beta sheets - hydrogen bonds
tertiary
3D
Quaternary
2 or more peptide chains
when are ketone bodies used
when glucose is not available
What is arachidonic acid derived from?
polyunsaturated fatty acid (omega 6)
What drugs impact the prostaglandin pathway?
NSAIDS, corticosteroids, brochiodilators
what does latanoprost do?
lowers IOP by increasing aqueous humor outflow
what do leukotrienes do?
implicated in asthmatic constriction of bronchioles
osmosis
net movement through a semi-permeable membrane into a region of higher solute concentration to equalize solute concentrations
The tear film should be normally what?
isotonic
dry eye causes the tear film to become
hypertonic
genteal is a what ?
hypotonic
how does a mutation in aquaporin 0 lead to cataracts?
disruption in lens fluid and ion homeostasis
Na+ and K+ ATPase keeps what low inn the avascular lens to drive microcirulation system (active transport)
Na+ levels
corneal endothelial actively pumps out Na+ to regulate water content in the stroma, what does this do?
keeps stroma clear
sodium ions pumped out of endothelial draw water out of the stroma, what does this do?
keep cornea clear
What are the most actively phagocytic cells in the human body?
RPE cells
What type of gland are Meibomian glands, , and what is their impact on the tear film?
specialized sebaceous glands
what do meibomian glands secrete, what process (endocytosis or exocytosis)
lipids via exocytosis
what does lipids in the tear do?
reduce surface tension, smooth optics, and prevent evaporation
What does cholesterol do?
controls rigidity of the cell membrane
why are sphingolipids important?
they are component of the membrane in neural tissue
What are the ocular manifestations of fabry disease?
corneal verticillata, cataracts, conjunctival and retinal abnormalities (vortex keratopathy, tortrous vessels)
What chromosome is mutated in Tay Sachs
HEXA on chr 15- can’’t degrade sphingolipids
why is the glycocalyx important?
helps prevent bacterial binding, spreads tears over surface in tear film
what cells secrete glycoprotrins on the surface?
epithelial cells
How are mucins different in tear film vs glycocalyx?
tear film has free mucins, glycocalyx has membrane bound mucins
Why are amphiphilic mucins inmportant?
they allow water to be spread and reduce surface tension
What does the tear film consist of?
glycocalyx, free mucins, membrane bound mucins
F actin
smallest, constantly being severed and reformed
Intermediate filaments
most stable and permanent structure- tough and insoluble
microtubules
hollow and dynamic tubes, motor proteins move cargo on their “tracks”
Adherin Junctions are linked to what?
actin cytoskeleton
What between corneal cells affects drug delivery?
tight junctions
tight junctions are also know as?
zonula occuldens
what do zonula occuldens precent
molecules from passing through extracellular space
Where are tight junctions present on the eye?
surface corneal epithelium
How do drugs eneter the eye through the cornea?
simple diffusion
desmosomes are formed by what and linked to what cytoskeletal structure?
Cadherins- linked to intermediate filaments
Hemi-desmosomes tack down the corneal epithelium to what?
basal lamina
What happens if hemi-desmosomes get injured
recurrent corneal erosions
inflammatory cells stick to blood vessel walls by
CAMs
disruption of gap junctions causes
cataracts
what is the purpose of gap junctions
cell to cell communication
glucose is taken up into the cell via
facilitated diffusion
What are the major precursors of NAD
vitamin B3 and tryptophan
FAD is derived from what precursors?
riboflavin and vit b2
What is the difference between methyl groups and acetyl groups on DNA?
methyl groups- shut down
acetyl- expose DNA
most cells in the body are in what?
interphase
Prophase
DNA condenses to chromosomes
nuclear envelop breakdown
formation of microtubules
Metaphase
chromosomes cluster in the middle
anapahse
choromatid separation with microtubules
telophase
prophase in reverse - chromosomes unfold, nuclear envelop reforms
Rough ER
makes proteins
Smooth ER
metabolizes lipids, synthesizes cholesterol and steroid based hormones, detoxifies drugs
Golgi
package proteins, lipids, and enzyme for export
What causes DNA damage
UV, mitochondria, inflammation, smoking, UV, pollution