Mon July 13 Flashcards

(44 cards)

1
Q

how are pyrimidine dimers removed?

A

nucleotide excision repair

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2
Q

what type of DNA repair is defective in xeroderma pigmentosum?

A

nucleotide excision repair

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3
Q

abiraterone MOA?

A

Inhibits 17-alpha-hydroxylase, thus decreasing DHEA production. -Useful in prostate cancer

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4
Q

which enzyme is defective in PKU?

A

phenylalanine hydroxylase or BH4 cofactor

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5
Q

Presentation of PKU?

A
Intellectual disability
Growth retardation
Seizures
Fair complexion
Eczema
Musty body odour
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6
Q

Treatment of PKU?

A

Avoidance of phenylalaine
Increased tyrosine intake
Tetrahydrobiopterin supplementation

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7
Q

Which sweetener must patients with PKU avoid?

A

aspartame - contains phenylalanine

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8
Q

Which enzyme is defective in alkaptonuria?

A

homogentisate oxidase

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9
Q

Which pathway is disrupted in alkaptonuria?

A

Conversion of tyrosine to fumarate

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10
Q

presentation of alkaptonuria?

A

blue-black connective tissue, ear cartilage and sclera - urine turns black on prolonged exposure to air
-arthralgias

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11
Q

proopiomelanocortin is cleaved to produce which substances?

A

beta-endorphins, ACTH and MSH

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12
Q

what is aripiprazole?

A

An antipsychotic drug used in schizophrenia and bipolar I

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13
Q

which enzymes require the cofactor thiamine?

A

pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase and transketolase

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14
Q

inheritance of VHL?

A

autosomal dominant

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15
Q

what is systemic mastocytosis?

A

Clonal mast cell proliferation in the bone marrow, skin and other organs

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16
Q

systemic mastocytosis is associated with which mutation?

A

mutations in the KIT receptor tyrosine kinase

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17
Q

pathophys of systemic mastocytosis?

A

Mast cells overproduce tryptase

  • they have excessive histamine release leading to flushing, syncope, hypotension, urticaria, etc.
  • the histamine induces gastric acid secretion leading to ulceration
  • the excess acid also inhibits pancreatic and intestinal enzymes, leading to diarrhea
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18
Q

what type of virus is the west nile virus?

A

Arbovirus (+ RNA virus)

19
Q

what receptor does glucagon act on?

A

g protein coupled receptors - Gs

20
Q

what is the first line treatment for essential tremor?

21
Q

the acidic environment of the stomach helps with the absorption of which substances?

A

Ca, Fe, Mg and B12

22
Q

the acidic environment of the stomach activates which pancreatic enzymes?

A

amylase and protease

23
Q

the acidic environment of the stomach INactivates which pancreatic enzymes?

24
Q

Someone who has been prescribes a PPI will have increased absorption of what?

A

dietary fats - loss of H leads to decreased INactivation of pancreatic lipases - thus promoting lipase activity and fat absorption

25
giant multinucleated tumour cells are consistent with which grade of cancer?
High-grade | These are found in anaplastic tumours
26
retinal hemorrhages in a baby are highly suggestive of....
abusive head trauma (shaken baby syndrome)
27
pathophys of shaken baby syndrome (abusive head trauma)?
Vigorous shaking leads to tearing of the bridging veins and subdural hemmorhage and retinal hemorrhage. The baby may have accompanying posterior rib fractures from the perpetrators grasp.
28
under normal conditions, the extracellular space has a high concentration of which ions?
Na and Cl
29
how may macrophages in an atheroma lead to instability of the plaque?
The plaque is constantly being remodelled, and macrophages may secrete MMPs which breakdown extracellular matrix proteins leading to plaque instability and risk of rupture
30
In myocardial ishemia, how soon will loss of contraction of the affected tissue occur?
Less then 60 seconds due to rapid depletion of ATP
31
after how long does myocardial ischemia lead to irreversible damage?
30 minutes
32
Under hypoxic conditions what is ATP in the myocardium broken down into?
ATP - > ADP -> AMP ->adenosine, which can cross the cell membrane and act as a vasodilator
33
what structures run through the superior orbital fissure?
CN III, IV, Va, VI, opthalmic veins and sympathetic fibers
34
what structure goes through the foramen rotundum?
CN Vb
35
what structure goes through the foramen ovale?
CN Vc
36
formula for total peripheral resistance in a parallel circuit?
1/resistance = 1/R1 + 1/R2 + 1/R3 + 1/R4
37
Blood supply to the femoral head?
Branches from the median circumflex humeral artery
38
what type of vaccine is the post-prophylactic exposure vaccine for rabies?
inactivated
39
which measure is sensitive to changes in prevalance of disease?
positive predictive value | negative predictive value
40
does sensitivity change with changes in prevalence of disease?
no
41
where does the radial nerve enter the forearm?
anterior to the lateral epicondyle
42
which two nerves does the radial nerve split into?
superficial and deep branches. The superficial branch is sensory and the deep branch is motor
43
which muscle does the deep branch of the radial nerve travel through?
the supinator muscle - making it vulnerable to injury from repeated supination/pronation
44
under which condition is chronic hyperventilation normal?
Pregnancy - the progesterone stimulates a sensation of shortness of breath and stimulates hypothalamus to increase respiratry drive