Disease AND specific terms - Block 1

Question 1

Marfan syndrom

1. mutation of what
2. results in abn what
3. physio outcomes in patients (MN)

Answer 1

1. fibrillin gene,
2. ab elastic fibers
3. -elongated limbs
   - aortic aneurysms (bulging of the aortic wall)
   - dislocation of eye lens

*Marfan is a martian -> long limbs AND aneurysms AND dislocation of eye lens

Question 2

give three examples of glycoproteins

Answer 2

1 FIBRO-NECTIN
2 laminin
3 C-HONDRO-NECTIN

Question 3

GAG always has what in its name

Answer 3

sulfate

Question 4

Proteoglycans

1. structure
2. purpose

Answer 4

1. Core protein with GAGs (sugar) attached along it.

2. provide structure to matrix and hold water.

Question 5

two types of macromolecules

generated by fibroblasts ARE

Answer 5

glycoproteins

proteoglycans

Question 6

type I hypersensitivity reactions
1. symptoms

2. caused by what (at cellular level)
3. example of common type 1 hypers rxn

Answer 6

1. swelling and itching
2. when mast cells dump its contents in EC space
   read: anaphylactic shock results when there’s extensive release of mediators
3. allergic rxn

Question 7

if Na channels are blocked, threshold will go (up/down)

Answer 7

up

Question 8

Bactin

Answer 8

bactin blocks Na channels on pain-sensing neurons

Question 9

Ca is normally found where

Answer 9

EC

Question 10

normal REL of Ca with channels

Answer 10

Ca inhibits opening of channels

Question 11

absolute refractory period coincides with Na channel “”

Answer 11

inactivation

Question 12

the “” of actin potentials is used to encode info in CNS

Answer 12

frequency

Question 13

define accomodation in AP

Answer 13

membrane is continuously depolarized -> NaC progressively become inactivated -> accommodation -> results in AP frequency DOWN

Question 14

define relative refractory period: Na channels and K channels

Answer 14

NaC: no longer inactivated

KC: open

Question 15

elevation in extracellular K is called

Answer 15

hyper-KALEMIA

Question 16

changes in EC (ion) can have dire consequence for brain

Answer 16

Na

not K

Question 17

muscle weakness is a symptom of what two things

Answer 17

Hyper

• calcemia
• kalemia

Question 18

what ion channel underlies plateau phase

Answer 18

Ca

Question 19

trigger disease for abnormal neurofilament (pathway)

Answer 19

damaged axon leads to A-MYO-TROPHIC laterla sclerosis

Question 20

defective keratin in skin causes what and why

this disease is called EPIDERMOLYSIS

Answer 20

causes blisters bc can’t resist pressure

BULLOSA

Question 21

PROGERIA (premature aging of child) is caused by what

Answer 21

mutation of LAMINA

Question 22

diseases involving kinesin

Answer 22

anesthetic lidocaine INHIBITS kinesin movement in axons (same as stop forward transport of NT to nerve synapses)

Charcot MT neuropathy; interrupts transport of stuff

Retinitis pigmentosa

Question 23

Na,K,Cl cotransporter is the target of what thing

Answer 23

diuretic called FURO-SE-MIDE

when inhibit, less water is taken back up and more water goes out in urine (diuresis)

Question 24

Name two blistering diseases

Answer 24

1 Epiderm Bullosa - mutation in keratin means blistering skin

Question 25

topo iso merase are targets of what antibiotic

Answer 25

quino lone

ex: cipro floxi cin