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B2 Clinical Application > B2 SFM > Flashcards

B2 SFM Flashcards

1
Q

Cause of SCID

A

deficient Adenosine Deaminase
Typically would remove amine at Position 6

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2
Q

location of cancer blocking drugs on nucleotides

A

Positions 3, 6, and 7

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3
Q

Tm

A

temperature where molecule ishalf denatured
Enough E to break half H bonds

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4
Q

factors affect Tm

A

G-C content (more of = higher Tm)
size of DNA molecule (increase base pairs = increase Tm)

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5
Q

Chemical denaturation of DNA

A

pH increases to strip H bonds

competitive denaturants - H bond favor interaction of denaturant and N bases (not the complementary bases)

others (DMSO strips H bond) (aldehydes covalently modify N bases to negative H bond)

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6
Q

Fluoroquinolone antibiotics (include ___floxacin & Levaquin)

A

target DNA gyrases in gram negative bacteria

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7
Q

Daunorubicin

A

chemo drug, anti-leukemia
DNA intercalation/Topo II

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8
Q

Quinolone

A

Chemo drug, antibiotic
DNA gyrase

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9
Q

Doxorubicin

A

chemo drug, anti - leukemia
DNA intercalation/Topo II

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10
Q

Etoposide

A

chemo drug, Anti lung cancer
Topoisomerase II

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11
Q

teniposide

A

chemo drug, anti-leukemia drug
Topoisomerase II

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12
Q

Azidothymidine (AZT)

A

anti HIV drug
HIV reverse transcriptase

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13
Q

Common DNA lesions

A

Strand breaks by ion radiation/chemicals

Missing base by acid/heat depurination

alter bases by ionizin radiation, alkylating, oxidation, deamination

dimer formation by UV irradiation (specifically Thymine)

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14
Q

Base excision repair steps

A

uracill DNA glycosylase removes bad base

AP endonuclease & PDE (lyase) cut out the phosphodiester bonf

DNA polymerase B fixes to correct base

DNA ligase seals together

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15
Q

Nucleotide exision repair steps

A

endonuclease and exonuclease take out Thymine dimer with about 30 nucleotides

DNA polymerase delta does the work to make new bases

DNA ligase seals

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16
Q

Xeroderma Pigmentosum

A

autosomal recessive
severe sunburn with small sun
skin cancers

mutation in one of 9 genes in nucleotide excision repair

over 1000x increase of sunlight induced skin cancer & others

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17
Q

HNPCC/Lynch Syndrome

A

defect in mismatch repair
hereditary nonpolyposis colon cancer

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18
Q

Systemic Lupus Erythematosus

A

anti-nuclear antibodies against double stranded DNA, histones, small nucleotide RNPs

Can lead to inability to splice out introns
red butterfly rash

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19
Q

Polymyositis

A

anti-ARS antibody (aminoacyltRNA synthetases), no translocation during translation
inflammatory myopathy by symmetrical proximal muscle weakness
increased serum creatine kinases
No signal recognition particle which means proteins just get excreted

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20
Q

DBA (diamond black anemia

A

rapid onset anemia in1 year
improper translation
decrease hematocrit/reticulocyte
Mutations of ribosomal proteins subunits (RPS19, RPS26, RPL5, RPL11)

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21
Q

Diptheria

A

inactivates eEF2 (ADP ribosylation)
grey pseudomembrane in pharynx
leads to problem with ribosomal trnaslation as eEF2 is need for elongation

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22
Q

Pneumonia

A

associated with ventilators
Exotoxin A
problem with elongation during translation

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23
Q

Shiga Toxin

A

peptidyl transferase is decreased so block peptide formation in translation
EHEC enters cytosol by Golgi/ER that cleaves Adenin from 28S RNA of 60S subunit (peptide formation)
bloody diarrhea

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24
Q

Zellweger Syndrome

A

defect recognition/transport of proteins to peroxisomes
Not properly labelled as defect in PEX gene that encode
vision loss, deafness, muscle weak
build up branched fatty acid

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25
Q

Adrenoleukodystrophy

A

mutation ABCD1 peroxisomal membrane transporter that bring fatty acid to peroxisome for degradation
chain fatty acid accumulation in cell
vision loss, deafness, muscle weak

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26
Q

Refsum disease

A

deficiency in enzyme that breaks down phytanic acid leads to issues with peroxisomes
vision loss, deafness, muscle weak

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27
Q

Botox toxin

A

muscle weakness
targets vSNARE, tSNARE, SNAP 25
affect ACh neurotransmitter (no contraction)

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28
Q

Tetanus toxin

A

muscle spasm
targets vSNARE
affect glycine & GABA neurotransmitter (no inhibitors)

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29
Q

familial hypercholesterolemia

A

mutation in LDL receptor so reduced uptake
use drug alirocumab and evolocumab, inhibit PCSK9
PCSK9 reduceds LDL receptor expression

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30
Q

HPV related cancer

A

HPV type 16/18 as express E6/E7
E6 - inhibit p53 (tumor supressor protein)
E7 - inhibit Rb/E2F (tumor supressor protein)

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31
Q

Osteoarthritis

A

Glucosamine & chondroitin 4 & 6 sulfates help treat
makes new GAG building block

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32
Q

Heparin

A

anti-coagulant
decreases fibrin
increases antithrombin III

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33
Q

hunter syndrome

A

dermatin sulfate & heparin sulfate
L-iduronate-2-sulfatase
No corneal clouding

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34
Q

hurler syndrome

A

dermatin sulfate & heparin sulfate
alpha-L-iduronidase
corneal clouding, X linked

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35
Q

Sly syndrome

A

Dermatin sulfate & heparin sulfate
beta Glucuronidase
corneal clouding with skeletal deformity

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36
Q

I cell disease

A

decrease in lysosomal enzymes in fibroblast
build up GAG, carbs, lipids
corneal clouding
increase in lysosomal enzymes in plasma

37
Q

Myasthenia Gravis

A

weakness in extremities due to defect nAChR
NMDA receptors
ionotropic glutamate receptor

38
Q

Cystic Fibrosis

A

cAMP ATP gated Cl channel mutation in CFTR (balances salt and water on many surfaces in the body), cause less activity and not enough water so mucus
ATP gated channel

39
Q

cholera

A

ADP ribosylation of G-alpha-s, inhibit release GTP
overactivates CFTR (balances salt and water on many surfaces in the body)
lead to diarrhea
ATP gated chanel

40
Q

benzodiazepine drug

A

anti-seizure
GABA A receptor agonist

41
Q

schizophrenia

A

decrease in NMDA receptors
no mediation of excitatory NT in CNS

42
Q

GHR (dwarfism)

A

cytokine receptor of RTK, need JAK protein
low levels of IGF

43
Q

EpoR (anemia)

A

cytokine receptor of RTK, need JAK protein
decrease of making RBC

44
Q

IL2R (immunodeficiency)

A

cytokine receptor of RTK, need JAK protein
decreased mediation of interactions between leukocytes

45
Q

Pertussis

A

ADP ribosylation of G-alph-i
inhibits release GDP, can’t inhibit adenyl cyclase

46
Q

ondansetron drug

A

antagonist of 5HT3 receptor

47
Q

alpha 1 receptor physio effect

A

Excitatory contractions
contraction of radial (iris dilate)
vasoconstriction
intestinal sphincter contraction
pilomotor contraction

48
Q

alpha 2 receptor physio effect

A

inhibit neurotransmitter release
intestinal relaxation

49
Q

Beta 2 receptor physio effect

A

Relaxation dilation
vasodilation
bronchodilation
bladder wall relax

50
Q

beta 3 receptor physio effect

A

relaxation dilation
lipolysiss
thermogenesis

51
Q

Mechanical disturbance of ANS

A

vagus nerve to mechanical disruption intracrainal or near exit into neck
Sympa anatomically most vulnerable

52
Q

somatic dysfunction ANS

A

affect vagus nerve or sympa NS trunk/chain

53
Q

OMT for sympathetic NS

A

manipulation of ribs & articulation
proximity to trunk makes impact

54
Q

referred pain

A

visceral pain referred to dermatomes cn show diagnosis if no somatic stimulus

55
Q

viscerosomatic reflex

A

segmental levels of somatic and visceral innervation can inform segmental level to target to treat ANS dysfunction

56
Q

ANS dual innervation organs

A

each nerve need to work together for full effect
full stimulation of organ by one and other full stop of stimulation

57
Q

first indication of ANS dysfunction

A

orthostatic hypotension

58
Q

primary hyperhidrosis

A

excess sweat palms & soles
sympathetic NS with treatment by anticholinergic drug

59
Q

pure autonomic failure

A

sporadic: postural hypotension, impotence, bladder dysfunction, impair sweat
start midlife
reduction in density of postganglionic autonomic neurons
low norepinephrine level & noradrenergic super senstive

60
Q

organophosphate poisioning

A

meds, incesticides, neuroweapons that inactivate acetylcholinesterase
accumulate ACh, overstiumlating receptors and causing saliva, tears, diarrhea, nausea, tremors

61
Q

pheochromocytoma

A

benign neuroendocrine tumor
cause excess of catecholamines (norepi/epi)
palpitations, headaches, profuse sweat (with hypertension) make diagnosis

62
Q

Burkitt’s lymphoma

A

enhancer hijacker of IgH enhancer creating an excess of Myc that causes improper translocations to 8

63
Q

Follicular lymphoma

A

enhancer hijacker of IgH enhancer creating an excess of Myc that causes improper translocations to 14

64
Q

2 degree polycythemia

A

increase of hypoxia inducible factor 1
cause tumor and excess epothropoietin in kidney

65
Q

VHL disease

A

B1 defeciency in which transcription factors cause degradation of hypoxia induced factor
no regulation of the cells/genes cause tumors

66
Q

Klein-Waardernburg syndrome

A

mutation in PAX 3
pigmentary & limb abnormalities
lateral eyes
induce apoptosis

67
Q

Iron deficiency anemia

A

iron responsive element binding protein binds to stem loop and come off when iron binds
if this is in excess with transferrin receptor then no iron made

68
Q

Fas receptor in cancer

A

promotes receptor and in cancer cells exon 6 skipped
creates it a soluble protein and so no apoptosis of bad cells

69
Q

Hyperferritinemia

A

very high iron levels
low/no transferrn receptor at 3’ binding site of iron responsive binding element if no abillity to bind create excess in blood

70
Q

SCD (sickle cell disease)

A

issue with beta globin
there is no cleavage where one should be (MstII restrict)
from a restriction endonuclease that cleave at any nucleotide

71
Q

SCID

A

blood disease by mutation in adenosine deaminase or IL receptor subunit
can use stem cells engineered and genes added into these cells with retrovirus
creates gene replacement when return cells with new gene to patient

72
Q

Southern blot

A

specific DNA fragment
copynumber of gene, alteration in gene, visualize DNA fragment, detect multipe DNA fragment

73
Q

Northern blot

A

specific for RNA dectection
mostly to see if specific mRNA are present

74
Q

Western blot

A

Specific to protein s

75
Q

Phenylephrine

A

selective alpha 1 agonist
direct acting
Vasoconstriction , increased both systolic & diastolic blood pressure, hypertension, reflex bradycardia
nasal decongestant, vasopressor, local hemostatic, eye exam

76
Q

clonidine & methyldopa

A

selective alpha 2 pre-synaptic agonist
Acts centrallytodecrease sympathetic outflow to heart vessels.
Inhibit sympathetic vasomotor centers.
Used as antihypertensive in essential hypertension to lower BP
And withdrawal symptoms to control the excessive autonomic actions such as in alcohol or opioids withdrawal

77
Q

Albuterol

A

selective beta 2 agonist
oral, inhale, inject
bronchodilate
acute asthma/COPD attack

78
Q

Formotorel

A

oral, inhale, inject
bronchodilate
longer acting

79
Q

Pseudoephedrine

A

a & b agonist
CNS & pressor effects
nasal& ocular decongestant
CNS stimulant effects

80
Q

phenoxybenzamine

A

irreversible block alpha 1 & 2 rececptors
long acting for 24 hours
use when treating adrenal tumor (hypertensive crisis)

81
Q

phentolamine, prazosin

A

block alpha 1 & 2 receptors
short acting (4 hours)

82
Q

tamsulosin

A

alpha 1 A antagonist
relax smooth muscle of neck of bladder, prostate (improve urine flow)
minimal BP effect
used imn treating benign prostatic hypertrophy

83
Q

lols

A

B antagonists
bradycardia, decrease cardiac work, decrease oxygen consume, decerase excitabiliy/automaticity/conductivity iof heart

Increases peripheral resistance as block vasodilation

84
Q

bethanecol

A

increase tone/motility bladder
use for urinary retention
muscanaric agonist

85
Q

carbachol

A

decrease intraocular pressure in glaucoma
muscarinic agonist

86
Q

pilocarpine

A

use in glacuamo
use with head/neck radiation treatments to stimulate salive & ease swallowiung
muscarinic agonist

87
Q

atropine

A

M2 antagonist
tachycardia
increase AV conduction
decrease vasodilation

88
Q

Ipratropium

A

muscarinic blocking
cause brochodilarion
COPD/bronchial asthma

B2 Clinical Application (4 decks)

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