UWORLD second pass Flashcards

1
Q

primary type of collagen in scar formation

A

Type 1 (also found in dermis, bone, tendon)

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2
Q

side effects of L-DOPA

A

agitation and anxiety (regardless of whether carbidopa is added)

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3
Q

riboflavin

A

precursor of FMN and FAD

FAD acts in TCA cycle as an electron acceptor for succinate dehydrogenase

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4
Q

glycosylase

A

cleaves the altered base leaving an AP site

REMOVES DEFECTIVE BASE. This is then cleaved and removed by endonuclease

Glycosylase –> Endonuclease –> Lyase –> Polymerase –> Ligase

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5
Q

when insulin binds to the cell what happens?

A

Insulin receptor has intrinsic tyrosine kinase activity. This receptor autophosphorylates itself

It can then go down one of two paths.

  1. The first is the P13K pathway that stimulates translocation of GLUT-4 to the cell membrane, glycogen synthesis and fat synthesis

P13K promotes glycogen synthesis by activating protein phosphatase

  1. The other pathway is the RAS/MAPK pathway involved in cell growth, DNA synthesis
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6
Q

3 spots in TCA cycle where Niacin is involved

A
  1. Isocitrate dehydrogenase
  2. alpha-ketoglutarate dehydrogenase
  3. malate dehydrogenase
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7
Q

Most common cause of homocystinuria, what enzyme and what cofactor

A

AR deficiency of cystathione beta synthase (CBS). This enzyme REQUIRES B6

50% of pts respond to high doses of B6, which improves residual enzyme activity.

Also can reduce dietary methionine

Present with marfanoid habitus, intellectual disability. Most likely to die of thromboembolic occlusion

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8
Q

Which one is the more severe form of frutose metabolism defiency

A

Aldolase B

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9
Q

Does the exact nucleotide sequence of the target region in PCR need to be known?

A

No

The oligonucleotide sequence of the flanking regions must be known though in order to make the primers necessary to start PCR

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10
Q

anti snRNP antibodies

A

SLE

These remove introns from pre-mRNA to form mature mRNA. Pts with SLE have antibodies against these

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11
Q

transaminase reactions require what as cofactor

A

B6

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12
Q

sorbitol gets broken down to what?

A

fructose

via sorbitol dehydrogenase

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13
Q

renal ammoniagenesis

A

a process by which renal epithelial cells metabolize glutamine generating ammonia and bicarb

The bicab comes BACK into the blood and the ammonia is mixed with an H+ to form ammonium and is trapped in lumen of tubule and excreted

This process is responsible for the vast majority of renal acid excretion in chronic acidotic states

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14
Q

pts from homocysteinuria benefit from

A

B6 (maximize CBS activity)

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15
Q
A
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16
Q

graft vs host disease

A

usually occurs after allogenic bone marrow transplant

The grafted immunocompetent T cells proliferate in the immunocompromised host and reject host cells

This is a Type IV hypersensitivity reaction

usually present with rash, jaundice, diarrhea

This can potentially be benefical for leukemia pts as it kills off the rest of the leukemia cells

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17
Q

Two things present with absent thymus

A
  1. Di-George
  2. SCID
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18
Q

marker for mast cell activation (therefore marker for anaphalaxis)

A

tryptase

Also release histamine, heparin, eosinophilic chemotactic factors

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19
Q

antibody against Fc portion of IgG

A

RA

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20
Q

diptheria vaccine is a

A

toxoid

toxoid is a toxin that has been modified to be inactive but still maintains some antigenic similarity

21
Q

pts with microscopic polyangitis have Ab against?

A

myeloperoxidase

22
Q

systemic juvenile idiopathic arthritis

A

most common type of arthritis in children

has fever that is once a day (quotidian)

arthralgas, rash, arthritis

Quotidian fever + arthritis

23
Q

job syndrome

A

failure of helper cells to produce INF-Y

Neutrophils cannot respond to chemotactic signal

reccurent staph infections, pruritic ezcema, high levels of IgE

24
Q

paraneoplastic aspect of thymoma

A

myasthinia gravis

pure RBC aplasia

hypogammoglobulinemia

25
Q

langerhan cell histiocytosis

A

presents as lytic bone lesions and skin rash or as recurrent otitis media with a mass involving the mastoid bone. Cells are functionally immature and do not effectively stimulate primary T cells via antigen presentation.

Cells express S-100

26
Q

Case control

A

pts by DISEASE

Odds Ratio

(think O is the second to last letter in contrOl)

27
Q

Cohort Study

A

looking at exposure

Can calculate Relative Risk

(think R is second to last letter in cohoRt)

28
Q

precision =

accuracy =

A

precision = reliability

accuracy = validity

PR AV

29
Q

children develop and understand the concept of gender by age

A

3-4 and have a sense of the permancy of gender by 5-6

30
Q

Benzos

short acting <6

medium acting 6-24

long acting >24

A

short –> oxazepam, midazolam

medium –> alprazolam, lorazepam

long –> diazepam, chlordiazepoxide

31
Q

classic co-dominant disease

A

alpha-1 antitrypsin deficiency (made in liver)

Can be:

M: normal protein

S: low amount protein

Z: not produce any protein

32
Q

common disease that displays incomplete penetrance

A

BRCA1/2

Not all who have gene result in brest cancer

33
Q

common disease that expresses variable expressivity

A

NF-1

2 individuals with same disease have varrying disease severity

variations in phenotype

34
Q

common diseases (4) that express pleiotropy

A

CF, PKU, OI, Marfan

one gene contribute to multiple phenotypes

35
Q

common example of mosaicism

A

McCune-Albright Syndrome (GNAS gene mutation affecting GPCR, making AC constitutively active)

  • cafe-au-lait
  • precocious puberty
  • polyostotic fibrous dysplasia (femur fx)

It is mosaic because it is a POST-ZYGOTIC mutation (so only some tissues are affected)

Germline would be LETHAL

36
Q

common example of allelic heterogeneity

A

beta-thalassemia

CF (1400 mutaitons can cause)

Different mutations in SAME locus produce SAME phenotype

one disease = multiple genes = single location

37
Q

paternal copy of 15q11-q13 abnormal

maternal copy of 15q11-q13 abnormal

A

Prader Willi (P for Paternal)

Angelman (angelMan for Maternal)

38
Q

pt has hypospades/epispades, what did not develop correctly embryologically?

A

hypospadies –> urethral folds

epispades –> genital tubercle

39
Q

male remnant of paramesonephric (mullerian) duct

female remnant of mesonephric (wolffian) duct

A

male –> appendix testis

female –> gartner duct

40
Q

combining gangyclovir with TMP-SMX increase risk for

A

bone marrow suppression

gangyclovir has side effect of neutropenia

41
Q

main purpose of blinding in a study

A

prevent observer bias

prevent patient or researcher expectancy from interfering with the determination of an outcome

42
Q

transposition of great vessels

A

due to linear (rather than spiral) development of aorticopulmonary septum

End up with 2 parallel circulations

MUST HAVE PDA or incompatable with life. These babies are cyanotic VERY EARLY

43
Q

pt has anaphalactic rxn, what can be measured in serum afterwards to see if this was truly what happened?

A

tryptase (relatively specific to mast cells) and histamine

44
Q

anxiety due to a generalized medical condition

A

diagnosed when symptoms are the physiologic consequence of an underlying medical condition (ie hyperthyroidism)

45
Q

thoracic outlet syndrome

A

compression of lower trunk of the brachial plexus as it passes through the thoracic outlet

also see compression of the subclavian vein that can cause upper extremity swelling AND subclavian artery that can cause exertional arm pain (think pitcher with cerivcal rib)

46
Q

Vit D deficiency serum levels of Ca, PTH, Phosohorus

A

Decreased Ca

Decreased Phosphorus

Increased PTH (trying to correct those other two)

47
Q

Rifamixin

A

nonabsorbable antibiotic used in hepatic encephalopathy

The antibiotic alters GI flora to decrease intestinal production and absorption of ammonia

*also use with Lactulose*

48
Q

PCOS tx

A

Clomiphene, a SERM that prevents negative feedback inhibition of the hypothalamus, resulting in increased LH and FSH

  • Weight loss
  • OCP