Mon July 13 Flashcards

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?

A

Beta-blocker

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?

A

lipase

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
Q

giant multinucleated tumour cells are consistent with which grade of cancer?

A

High-grade

These are found in anaplastic tumours

26
Q

retinal hemorrhages in a baby are highly suggestive of….

A

abusive head trauma (shaken baby syndrome)

27
Q

pathophys of shaken baby syndrome (abusive head trauma)?

A

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
Q

under normal conditions, the extracellular space has a high concentration of which ions?

A

Na and Cl

29
Q

how may macrophages in an atheroma lead to instability of the plaque?

A

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
Q

In myocardial ishemia, how soon will loss of contraction of the affected tissue occur?

A

Less then 60 seconds due to rapid depletion of ATP

31
Q

after how long does myocardial ischemia lead to irreversible damage?

A

30 minutes

32
Q

Under hypoxic conditions what is ATP in the myocardium broken down into?

A

ATP - > ADP -> AMP ->adenosine, which can cross the cell membrane and act as a vasodilator

33
Q

what structures run through the superior orbital fissure?

A

CN III, IV, Va, VI, opthalmic veins and sympathetic fibers

34
Q

what structure goes through the foramen rotundum?

A

CN Vb

35
Q

what structure goes through the foramen ovale?

A

CN Vc

36
Q

formula for total peripheral resistance in a parallel circuit?

A

1/resistance = 1/R1 + 1/R2 + 1/R3 + 1/R4

37
Q

Blood supply to the femoral head?

A

Branches from the median circumflex humeral artery

38
Q

what type of vaccine is the post-prophylactic exposure vaccine for rabies?

A

inactivated

39
Q

which measure is sensitive to changes in prevalance of disease?

A

positive predictive value

negative predictive value

40
Q

does sensitivity change with changes in prevalence of disease?

A

no

41
Q

where does the radial nerve enter the forearm?

A

anterior to the lateral epicondyle

42
Q

which two nerves does the radial nerve split into?

A

superficial and deep branches. The superficial branch is sensory and the deep branch is motor

43
Q

which muscle does the deep branch of the radial nerve travel through?

A

the supinator muscle - making it vulnerable to injury from repeated supination/pronation

44
Q

under which condition is chronic hyperventilation normal?

A

Pregnancy - the progesterone stimulates a sensation of shortness of breath and stimulates hypothalamus to increase respiratry drive