UW2 Flashcards

1
Q

what is deficient in familial dyslipidemias 1, 2a, 3, 4

A

1: lipoprotein lipase or apoprotein C-II (high chylomicrons, triglycerides, and cholesterol)
2a: LDL receptors or ApoB-100 (high LDL, cholesterol)
3: ApoE (high chylomicrons, VLDL)
4: overproduction of VLDL (high triglycerides)

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2
Q

how does the urea breath test work in H. pylor

A

patient swallows a bolus of carbon-13 labeled urea –> H. pylori breaks up the urea via urease –> breaths out labeled carbon dioxide

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3
Q

what can cause a false negative urea breath test in a patient with h. pylori

A
  • concurrent PPI use
  • bismuth use
  • antibiotic use
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4
Q

describe a mitral stenosis murmur

A

diastolic thrill palpable over apex and a low-pitched, rumbling mid-diastolic murmur best heard over apex in left lateral decubitus position

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5
Q

most common cause of mitral stenosis

A

episode of rheumatic fever

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6
Q

what mutation causes peutz-jeghers syndrome

A

serine/threonine kinase (STK11) on chromosome 19

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7
Q

what histological finding can indicate liposarcoma

A

non-membrane bound cytoplasmic lipids that can cause nuclear indenting and scalloping of the nuclear membrane

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8
Q

what is the asboe-hensen sign and what disease is it seen in

A

extension of a lesion with direct pressure

pemphigus vulgaris

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9
Q

immunofluorescence findings showing a netlike “chicken wiring” pattern of IgG and C3

A

pemphigus vulgaris

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10
Q

compare wernicke-korsakoff syndrome from alcohol use and alcoholic cerebellar degeneration

A

wernick-korsakoff:

  • results from vitamin B1 deficiency
  • affects mammillary bodies
  • confusion, ophthalmoplegia, ataxia (wernicke)
  • can progress to irreversible memory loss, confabulation, personality change (Korsakoff)

alcoholic cerebellar degeneration:

  • due to combination of B1 deficiency and direct alcohol-related neurotoxicity
  • loss of purkinje cells in cerebellar vermis (wide based gait ataxia and truncal instability)
  • ataxia that progresses over weeks to months before eventually stabilizing
  • **coarse rhythmic postural tremor of fingers and hands, dysarthria, and diplopia
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11
Q

symptoms of henoch-schonlein purpura

what causes HSP

A

palpable purpura on lower extremities and arthritis

can be preceded by a viral URI and present with bloody diarrhea and crampy abdominal pain

IgA mediated vasculitis

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12
Q

what can be seen in the midst of normal intestinal mucosa in Meckel diverticulum

A
  • heterotypic gastric mucoa

- pancreatic tissue

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13
Q

compare bleeding from a meckel diverticulum to bleeding from intussusception

A

meckel: painless, brisk rectal bleeding
intussusception: severe, intermittent abdominal pain, vomiting, bloody stools, palpable abdominal mass

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14
Q

pathophysiology of hypertrophic cardiomyopathy

A

abnormal hypertrophy of the LV myocardium and disordered arrangement of cardiac myofibrils

predominantly affects interventricular septum and causes LV outflow obstruction that increases afterload and decreases CO (exertional lightheadedness)

hypertrophy also leads to small LV cavity and impaired relaxation of LV walls with consequent diastolic dysfunction (high O2 demand, exertional angina)

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15
Q

what maneuvers increase intensity of hypertrophic cardiomyopathy murmur and why

A

valsalva

abrupt standing

nitroglycerin administration

  • all decreases preload and LV blood volume)
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16
Q

what maneuvers decrease intensity of hypertrophic cardiomyopathy murmur and why

A

sustained hand grip (increases after load, increases LV ventricular volume)

squatting (increases after load and preload, increases LV ventricular volume)

passive leg raise (increases preload, increases LV ventricular volume)

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17
Q

where is the murmur for hypertrophic cardiomyopathy located

A

systolic murmur along left sternal border

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18
Q

what causes wide splitting of S2

A

conditions that delay RV emptying

  • pulmonic stenosis
  • pulmonary hypertension
  • RBBB
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19
Q

what causes fixed splitting of S2

A

ASD

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20
Q

what causes paradoxical splitting of S2

A

conditions that delay aortic valve closure

  • aortic stenosis
  • LBBB
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21
Q

what is Job syndrome

A

hyper-IgE syndrome

causes recurrent skin and lung infections

(all other immunoglobulins are normal)

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22
Q

what is CD40 ligand deficiency

A

hyper-IgM syndrome

inability of T cells to activate B cell class switching (only IgM is produced)

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23
Q

what is x-linked agammalgobulinemia

A

defect in BTK (a tyrosine kinase)

severe immunodeficiency that results from inability to form mature B cells

shows lack of primary follicles and germinal centers

decreased B cell count and immunoglobulin levels

24
Q

what is common variable immunodeficiency (CVID)

A

defect in B-cell differentiation

low or absent levels of all immunoglobulins

normal B cell count, but deceased immunoglobulins

25
Q

compare immune cell counts between combined variable immunodeficiency and X-linked agammaglobulinemia

A

CVID: normal B cell count, decrease in all immunoglobulins

X: decreased B cell count and decrease in all immunoglobulins

26
Q

compare functions of DNA polymerase I and III

A

I: removal and replacement of RNA primer

III: 5’-3’ DNA synthesis and 3’-5’ exonuclease activity

27
Q

what genes and neoplasms are associated with Lynch syndrome

A

MSH2, MLH1, MSH6, PMS2

  • colorectal cancer
  • endometrial cancer
  • ovarian cancer
28
Q

what family history would lead you to believe the pt had Lynch syndrome

A

family history of colon cancer and endometrial cancer/ovarian cancer

29
Q

what neoplasms are associated with li fraumeni syndrome

A
  • sarcomas
  • breast cancers
  • brain tumors
  • adrenocortical tumors
  • leukemia
30
Q

tacrolimus MOA

A

calcineurin inhibitors

binds FK506 and blocks T-cell activation by blocking IL-2 transcription

31
Q

adverse effects of calcineurin inhibitors (cyclosporine, tacrolimus)

A

nephrotoxicity

32
Q

why is metoclopramid contraindicated in Parkinson’s pts

A

it can exacerbated or cause de novo parkinsonian symptoms and trigger extrapyramidal reactions due to antagonist effect on dopamine receptors

33
Q

indications for metoclopramide

A

vomiting or gastroparesis

34
Q

MOA metoclopramide

A

D2 receptor antagonist

increases resting tone, contractility, LES tone, motility, promotes gastric emptying

35
Q

clinical features of alkaptonuria

A
  • homogentistic aciduria (urine turns black when exposure to air)
  • ochronosis (blue-black pigment deposition in eyes, ears, and nose)
  • ochronotic osteoarthropathy (pigment deposition in spine and large joints)
36
Q

increased resistance to passive elbow flexion and extension is indicative of what neurodegenerative disorder

A

parkinsons

37
Q

how does ischemia affect intracellular and extracellular anion levels

A

ischemia results in depletion of intracellular ATP stores –> plasma membrane Na-K-APTase is no longer able to maintain resting membrane potential –> leakage of Na+ INTO the cell and K+ leaks OUT OF the cell

  • increased extracellular K+
  • increased intracellular Na+
38
Q

what is the foam stability index and what does it test for

A

mixing amniotic fluid with ethanol and shaking the tube

tests for surfactant (a ring of stable foam will develop)

tests fetal lung maturity

39
Q

how does strenuous exercise cause osteoporosis

A

strenuous exercise or restricted caloric intake –> chronic energy deficitis –> suppresses GnRH secretion –> decreased FSH, LH, and estrogen –> early onset osteoporosis

40
Q

what is the “female athlete triad”

A

insufficient caloric intake, amenorrhea, osteoporosis

41
Q

why is heparin safer than warfarin during pregnancy

A

heparin: charged, water soluble, does not cross placenta
warfarin: lipophilic, crosses the placenta

42
Q

what virulence factor does N. gonorrhea use to establish infection

A

pili

43
Q

what eye related dz do HIV patients often get

A

CMV retinitis

44
Q

symptoms of CMV retinitis

A

progressive vision loss with bilateral retinal hemorrhage and cotton-wool exudates on examination

45
Q

what is the treatment for CMV retinitis

A

ganciclovir

46
Q

ganciclovir MOA

A

inhibits DNA chain elongation by incorporation into viral DNA and inhibiting viral DNA polymerase

47
Q

acyclovir/famciclovir/valacyclovir MOA

A

guanosine analog

monophosphorylated by HSV/VSV thymidine kinase, then di- and Tri-phosphorylated by cellular kinases

triphosphate form inhibits viral DNA polymerase by chain termination

48
Q

how to perform motivational interviewing

A

acknowledge resistance to change while pointing out how behavior negatively impacts long term goals

“while you enjoy smoking, it sounds like you also wish you could breathe better and be more independent”

49
Q

Define and compare:

  • phenotypic mixing
  • reassortment
  • recombination
  • transformation
A

Phenotypic Mixing:
- host cell is co-infected with 2 virus strains and progeny viruses exhibit coat or envelope proteins not coded for by the genetic material packed within them (subsequent progeny lose these traits)

Reassortment:
- genetic shift (genomic segments of 2 or more different version of a virus infect the same host cell)

Recombination:
- gene exchange that occurs through crossing over of 2 double-stranded DNA molecules –> resulting progeny have recombined genomes with traits not present simultaneously in either parent virus

Transformation:
- uptake of naked DNA by prokaryotic or eukaryotic cell

50
Q

cause and symptoms of McArdle disease

A

AR condition from deficiency of muscle glycogen phosphorylase

sx:
- impaired exercise tolerance and muscle pain/cramping
- swelling on exertion
- myoglobinuria (red urine)
- “second wind” phenomenon

51
Q

cause and symptoms of Von Gierke disease

A

glucose 6 phosphatase deficiency

sx:
- fasting hypoglycemia
- lactic acidosis
- hyperuricemia
- hyperlipidemia

52
Q

cause and symptoms of Cori disease

A

debranching enzyme (a-1,4 glucosidase) deficiency

sx:

  • hepatomegaly
  • ketotic hypoglycemia
  • hypotonia and weakness
  • abnormal glycogen with very short outer chains
53
Q

cause and symptoms of pompe disease

A

alpha a-glucosidase deficiency

sx:

  • normal glucose levels
  • severe cardiomegaly
  • glycogen accumulation in lysosomes
54
Q

cause of ophthalmopathy in grave’s dz

A

stimulation of orbital fibroblasts to secrete excessive glycosaminoglycans

55
Q

jugular venous tracing:

  • a wave
  • c wave
  • x slope
  • v wave
  • y slope
A
  • a wave: atrial contraction
  • c wave: bulging of tricuspid valve during right ventricular contraction
  • x slope: right atrial relaxation
  • v wave: continued inflow of venous blood
  • y slope: passive emptying of right atrium after tricuspid valve opening
56
Q

GI stem cells are located where in the intestinal epithelium

A

crypts of lieberkuhn