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B2 Clinical Application > B2 SFM > Flashcards

B2 SFM Flashcards

(88 cards)

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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
Adrenoleukodystrophy
mutation ABCD1 peroxisomal membrane transporter that bring fatty acid to peroxisome for degradation chain fatty acid accumulation in cell vision loss, deafness, muscle weak
26
Refsum disease
deficiency in enzyme that breaks down phytanic acid leads to issues with peroxisomes vision loss, deafness, muscle weak
27
Botox toxin
muscle weakness targets vSNARE, tSNARE, SNAP 25 affect ACh neurotransmitter (no contraction)
28
Tetanus toxin
muscle spasm targets vSNARE affect glycine & GABA neurotransmitter (no inhibitors)
29
familial hypercholesterolemia
mutation in LDL receptor so reduced uptake use drug alirocumab and evolocumab, inhibit PCSK9 PCSK9 reduceds LDL receptor expression
30
HPV related cancer
HPV type 16/18 as express E6/E7 E6 - inhibit p53 (tumor supressor protein) E7 - inhibit Rb/E2F (tumor supressor protein)
31
Osteoarthritis
Glucosamine & chondroitin 4 & 6 sulfates help treat makes new GAG building block
32
Heparin
anti-coagulant decreases fibrin increases antithrombin III
33
hunter syndrome
dermatin sulfate & heparin sulfate L-iduronate-2-sulfatase No corneal clouding
34
hurler syndrome
dermatin sulfate & heparin sulfate alpha-L-iduronidase corneal clouding, X linked
35
Sly syndrome
Dermatin sulfate & heparin sulfate beta Glucuronidase corneal clouding with skeletal deformity
36
I cell disease
decrease in lysosomal enzymes in fibroblast build up GAG, carbs, lipids corneal clouding increase in lysosomal enzymes in plasma
37
Myasthenia Gravis
weakness in extremities due to defect nAChR NMDA receptors ionotropic glutamate receptor
38
Cystic Fibrosis
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
cholera
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
benzodiazepine drug
anti-seizure GABA A receptor agonist
41
schizophrenia
decrease in NMDA receptors no mediation of excitatory NT in CNS
42
GHR (dwarfism)
cytokine receptor of RTK, need JAK protein low levels of IGF
43
EpoR (anemia)
cytokine receptor of RTK, need JAK protein decrease of making RBC
44
IL2R (immunodeficiency)
cytokine receptor of RTK, need JAK protein decreased mediation of interactions between leukocytes
45
Pertussis
ADP ribosylation of G-alph-i inhibits release GDP, can't inhibit adenyl cyclase
46
ondansetron drug
antagonist of 5HT3 receptor
47
alpha 1 receptor physio effect
Excitatory contractions contraction of radial (iris dilate) vasoconstriction intestinal sphincter contraction pilomotor contraction
48
alpha 2 receptor physio effect
inhibit neurotransmitter release intestinal relaxation
49
Beta 2 receptor physio effect
Relaxation dilation vasodilation bronchodilation bladder wall relax
50
beta 3 receptor physio effect
relaxation dilation lipolysiss thermogenesis
51
Mechanical disturbance of ANS
vagus nerve to mechanical disruption intracrainal or near exit into neck Sympa anatomically most vulnerable
52
somatic dysfunction ANS
affect vagus nerve or sympa NS trunk/chain
53
OMT for sympathetic NS
manipulation of ribs & articulation proximity to trunk makes impact
54
referred pain
visceral pain referred to dermatomes cn show diagnosis if no somatic stimulus
55
viscerosomatic reflex
segmental levels of somatic and visceral innervation can inform segmental level to target to treat ANS dysfunction
56
ANS dual innervation organs
each nerve need to work together for full effect full stimulation of organ by one and other full stop of stimulation
57
first indication of ANS dysfunction
orthostatic hypotension
58
primary hyperhidrosis
excess sweat palms & soles sympathetic NS with treatment by anticholinergic drug
59
pure autonomic failure
sporadic: postural hypotension, impotence, bladder dysfunction, impair sweat start midlife reduction in density of postganglionic autonomic neurons low norepinephrine level & noradrenergic super senstive
60
organophosphate poisioning
meds, incesticides, neuroweapons that inactivate acetylcholinesterase accumulate ACh, overstiumlating receptors and causing saliva, tears, diarrhea, nausea, tremors
61
pheochromocytoma
benign neuroendocrine tumor cause excess of catecholamines (norepi/epi) palpitations, headaches, profuse sweat (with hypertension) make diagnosis
62
Burkitt's lymphoma
enhancer hijacker of IgH enhancer creating an excess of Myc that causes improper translocations to 8
63
Follicular lymphoma
enhancer hijacker of IgH enhancer creating an excess of Myc that causes improper translocations to 14
64
2 degree polycythemia
increase of hypoxia inducible factor 1 cause tumor and excess epothropoietin in kidney
65
VHL disease
B1 defeciency in which transcription factors cause degradation of hypoxia induced factor no regulation of the cells/genes cause tumors
66
Klein-Waardernburg syndrome
mutation in PAX 3 pigmentary & limb abnormalities lateral eyes induce apoptosis
67
Iron deficiency anemia
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
Fas receptor in cancer
promotes receptor and in cancer cells exon 6 skipped creates it a soluble protein and so no apoptosis of bad cells
69
Hyperferritinemia
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
SCD (sickle cell disease)
issue with beta globin there is no cleavage where one should be (MstII restrict) from a restriction endonuclease that cleave at any nucleotide
71
SCID
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
Southern blot
specific DNA fragment copynumber of gene, alteration in gene, visualize DNA fragment, detect multipe DNA fragment
73
Northern blot
specific for RNA dectection mostly to see if specific mRNA are present
74
Western blot
Specific to protein s
75
Phenylephrine
selective alpha 1 agonist direct acting Vasoconstriction , increased both systolic & diastolic blood pressure, hypertension, reflex bradycardia nasal decongestant, vasopressor, local hemostatic, eye exam
76
clonidine & methyldopa
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
Albuterol
selective beta 2 agonist oral, inhale, inject bronchodilate acute asthma/COPD attack
78
Formotorel
oral, inhale, inject bronchodilate longer acting
79
Pseudoephedrine
a & b agonist CNS & pressor effects nasal& ocular decongestant CNS stimulant effects
80
phenoxybenzamine
irreversible block alpha 1 & 2 rececptors long acting for 24 hours use when treating adrenal tumor (hypertensive crisis)
81
phentolamine, prazosin
block alpha 1 & 2 receptors short acting (4 hours)
82
tamsulosin
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
lols
B antagonists bradycardia, decrease cardiac work, decrease oxygen consume, decerase excitabiliy/automaticity/conductivity iof heart Increases peripheral resistance as block vasodilation
84
bethanecol
increase tone/motility bladder use for urinary retention muscanaric agonist
85
carbachol
decrease intraocular pressure in glaucoma muscarinic agonist
86
pilocarpine
use in glacuamo use with head/neck radiation treatments to stimulate salive & ease swallowiung muscarinic agonist
87
atropine
M2 antagonist tachycardia increase AV conduction decrease vasodilation
88
Ipratropium
muscarinic blocking cause brochodilarion COPD/bronchial asthma

B2 Clinical Application (4 decks)

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