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Flashcards in Presentations Deck (69):
1

hypermetabolic response - muscle rigidity, skeletal muscle damage, hyperthermia

malignant hyperthermia

2

induced by volatile anesthetic agents

malignant hyperthermia

3

mutation in RYR1 (ryanodine receptor 1)

malignant hyperthermia

4

dantrolene sodium

malignant hyperthermia - inhibits Ca2+ influx

5

autoimmune disease, leading cause of hyperthyroidism

graves disease

6

increase thryoxin (T4) and triidothyrone (T3)

increased iodine

graves disease

7

decreased TSH

graves disease

8

anti-thyroglobulin abs
anti-thyroid peroxidase abs

Graves disease

- binds to thyrotropin receptors --> increases iodine uptake and T3, T4 synthesis

9

methimazole

propylthiouracil

graves disease

10

radioiodine therapy

graves disease

- destroys thyroid gland

11

beta blockers to combat heart arrhythmia, heat tolerance

graves disease

12

MUC1
MUC19
NOD2

crohns

13

WBC accumulate in lining of intestines

- chronic inflammation

crohns

14

increase TNF

crohns

15

thickening of intestinal wall

intestinal barrier disruption

cobblestoning and ulcers

crohns

16

decreased brush boarder enzymes,
increase mast cells,
increase permeability

crohns

17

Anti-inflammatories

Aminosalicylates
- mesalamine

Corticosteroids
- prednisone

crohns

18

Azathiprine

Adalimumab

crohns
- immunosuppresant
- biological therapy

19

antibiotic - metronidazole

crohns

20

CFTR mutation

cystic fibrosis

21

thick mucus

cystic fibrosis

22

sweat duct - failed hypertonic absorption of NaCl

cystic fibrosis

23

Pancreas - failure to secrete NaHCO3 and water

GI failure to secrete Cl

cystic fibrosis

24

lung - failure of isotonic volume support

cystic fibrosis

25

hardened mucus
- plug airways
- ciliary clearance disruption
- decreased lung volume

cystic fibrosis

26

"- caftor"

ivacaftor, lumacaftor

cystic fibrosis

27

- mucus thinning drugs
- anti-inflammatories (lessen airway swelling)
- bronchodilators
- oral pancreatic enzymes (help absorb nutrients)
- antibiotics - prevent lung infection

cystic fibrosis

28

fibroblastic proliferation

disorderly collagen deposition

dupuytren's contracture

29

fibrosis and thickening of palmar fascia

fibrous nodules in palm

dupuytren's contracture

30

imbalance of collagenase and inhibitors

dupuytren's contracture

31

steroid/enzyme injections

dupuytren's contracture

32

fasciotomy/fasciectomy

dupuytren's contracture

33

xiaflex

dupuytren's contracture
(collagenase)

34

DMD mutation (X-linked)

can't produce dystrophin

duchenne muscular dystrophy

35

cardiomyopathy

duchenne muscular dystrophy

36

progressive weakness and loss of skeletal and cardiac muscles

duchenne muscular dystrophy

37

contractures

scoliosis

learning disability

duchenne muscular dystrophy

38

inflammation and fibrosis

enlarged calves - fat and scar tissue

duchenne muscular dystrophy

39

corticosteroids - prednisone, deflazacort
ACE inhibitors - reduce BP
Beta blockers - reduce BP

duchenne muscular dystrophy

40

psychosomatic
- triggered by physical/emotional trauma or infections

fibromyalgia

41

Mutations/increase in DA and Ser pathways-
- increased firing of neurons that are more sensitive to signals

fibromyalgia

42

Neuronal excitability
- exaggerated release of substance P and glutamate

Dorsal horn neurons hyperresponsive

fibromyalgia

43

serotonin and norepinephrine reuptake inhibitors (SNRIs)

fibromyalgia

44

Duloxetine
Milnacipran

fibromyalgia - antidepressants

45

pregabalin

fibromyalgia

46

systemic inflammation
- deposition of fibrin --> activation of blood coagulation

disseminated intravascular coagulation

47

accelerated fibrinolysis

simultaneous bleeding and clotting

disseminated intravascular coagulation

48

circulating, unopposed thrombin

disseminated intravascular coagulation

49

edema, visible superficial veins, bruising

disseminated intravascular coagulation

50

abnormal:
- protein C and protein S
- antithrombin inhibitory pathways
- fibrinolysis
- factor V

disseminated intravascular coagulation

51

heparin and warfarin

disseminated intravascular coagulation

52

recombinant APC

disseminated intravascular coagulation

53

progressive inability to use muscles for eye and body movements and speech

Rett syndrome

54

MECP (X-linked mutation)

Rett syndrome

55

altered chromatin arrangement

Rett syndrome

56

Repetitive hand movements

Rett syndrome

57

scoliosis

microencephaly

breathing abnormalities

irregular heart beat

seizures

Rett syndrome

58

sodium volproate

rett syndrom

59

Lactulose

Rett syndrome
- laxative for GI disturbances

60

deficient in vitamin B12 and folate

autoantibodies to intrinsic factor

megablastic anemia

61

high methylmalonic acid

megablastic anemia

62

MTHFR and SLC19A2 mutations

megablastic anemia

63

decreased:
RBC
HGB
Reticulocytes

increased:
mcv

megablastic anemia

64

decrease thymine

megablastic anemia

65

hypersegmented neutrophil

multi-nucleated erythrocyte precursor

megablastic anemia

66

nuclear cytoplasmic asynchrony

megablastic anemia

67

macrocytes and apoptic cells

megablastic anemia

68

Cyanocobalamin

megablastic anemia

increase vit. B12

69

L-methylfolate calcium

megablastic anemia

increase folate