True Learn Test

Question 1

Mutation & presentation of a patient with Wilson’s disease?

Answer 1

(hepatolenticular degeneration)

autosomal recessive in hepatocyte copper-transporting ATPase (ATP7B on chromosome13) - decreased copper incorporation into apoceruloplasmin & excretion into bile

presentation varies - liver dysfunction, hemolysis, neuropsychiatric disease (particulary d/t basal ganglia dysfunction)

Kayser-Fleischer rings (appears dark brown in Descement’s membrane)

Question 2

What disease (and mutation) is indicative of the following symptoms:

precocious puberty

cafe-au-lait macule

fibrous dysplasia of the bone

Answer 2

McCune-Albright Syndrome

mutation GNAS - increased production of pituitary hormomes

Question 3

What are the organisms that have a low ID50? This is generally b/c what characteristic?

Answer 3

campylobacter jejuni

shigella

entamoeba histolytica

giardia lamblia

generally means they are able to tolerate acidic environments

ID50 = # organisms required to cause disease in 50% of exposed individuals

Question 4

Presumable dianosis for a patient who lives in Wisconsin with constitutional symptoms, verrucous skin lesions, and lytic bone lesions?

Answer 4

blastomycosis

Question 5

What consequences can occur in a patient with Turner Syndrome due to congenital bicuspid aortic valce? What would you expect upon examination in each of these instances?

Answer 5

early systolic, high frequency click may be heard over the right second interspace

• aortic stenosis:
  
  • crescendo-decrescendo, systolic ejection murmur
  • best heart at upper right sternal border & radiates to carotids
• aortic regurg:
  
  • diastolic, decrescendo murmur best heard at the left sternal border
  • wide pulse pressure

also, incrased risk of infectious endocarditis

Question 6

Night blindness & xerophthalmia are both symptoms of what vitamin deficiency?

Deficiency in this enzyme is most commonly caused by what?

Answer 6

vitamin A

malabsorption syndrome (ie. celiac disease), chronic pancreatitis, pancreatic insuficiency, biliary disease

Question 7

What is the underlying pathophysiology of an aortic dissection resulting from aging/hypertension?

Answer 7

cystic medial degeneration (replacement of collage, elastin & smooth muscle by basophilic mucoid extracellular matrix with irregular fiber cross-linkages and cystic collections of mucopolysaccharides)

Question 8

What vitamin deficiency is characterized by stomatits, angular chelitis, glossitis, erythematous rash, normochromic anemia?

Answer 8

riboflavin (vit B2)

Question 9

What are the “3 d’s” associated with pellegra?

This is due to a deficiency in what enzyme?

Answer 9

diarrhea, dermatitis, dementia

niacin (vit. B3)

Question 10

Symptoms of vitamin c deficiency?

Answer 10

easy bruising, petichiase, bleeding gums, anemia

Question 11

How can you differentiate between gout & pseudogout crystals under polarized light?

Answer 11

• gout (monosodium urate crystals)
  
  • yellow when parallel
  • blue when perpendicular
• pseudogous (calcium pyrophosphate)
  
  • blue when parallel
  • yellow when perpendicular
  • rhomboid shaped crystals
    *

Question 12

If a patient develops QT prolongatio & bradycardia in response to a rhythym treatmet for afib, what drugs could they have been given?

Answer 12

sotalol

dofetilide

Question 13

MC us of adenosine as a heart medication?

Answer 13

SVT

Question 14

What heart condition causes a decrescendo diastolic murmur at the lest sternal border?

Answer 14

aortic regurgitation

Question 15

What are the difference in the caues of eccentric LV hypertrophy vs. concentric LV hypertophy?

Answer 15

eccentric - d/t volume overload (aortic regurg)

concentric - d/t pressure overload (aortic stenosis, systemic hypertension)

Question 16

Indirect inguinal hernias are associated with what congenital issue?

Answer 16

patency of the processus vaginalis

Question 17

What is the mechanism of action of metformin?

Answer 17

decrease hepatic gluconeogenesis via inhibition of mitochondrial glycerophosphate dehydrogenase

Question 18

What is the difference in histology of chronic pulmonary edema vs. chronic pulmonary edema?

Answer 18

• acute
  
  • engorged capillaries
  • intra-alveolar pink material
• chronic
  
  • hemosiderin-laden macrophages (“heart failure cells”)

Question 19

Fill out this table

Answer 19

Question 20

What is the only trisomy to have increased Bhcg in the first trimester screening?

Answer 20

trisomy 21

Question 21

What is the only congenital defect to cause increase alpha-fetoprotein in the second trimester screening?

Answer 21

neural tube defect

Question 22

Which trisomies have decreased estriol in the second trimester screening?

Answer 22

trisomy 21 & 18

Question 23

What is the only trisomy to have normal B-hcg in the second trimester screening?

Answer 23

trisomy 13

Question 24

What is the most likely diagnosis of a patient with anterior mediastinal mass, generalized pruritis, alcohol-associated pain, peripheral eosinophilia, and elevated LDH?

Answer 24

hodgkin lymphoma

Question 25

Difference between dystrophic calcifications & metastatic calcifications?

Answer 25

dystrophic - d/t aging and is associated with normal calcium levels

metastatic - elevated calcium levels

Question 26

What diagnosis is consistent with acute kidney injury, peripheral eosinophilia, sterile pyuria, white blood cell casts?

Answer 26

acute interstitial nephritis

Question 27

Tumor marker for ovarian cancer?

“ib” treatment?

Answer 27

CA-125

olaparib

Question 28

What cancers are associated with the following tumor markers?

CA-15-3?

CA-19-9?

Chromogranin A?

PSA?

Answer 28

• CA-15-3
  
  • breast cancer
• CA-19-9
  
  • pancreatic adenocarcinoma
• Chromogranin A
  
  • medullary thyroid cancers
  • parathyroid tumors
  • ganglioneuroblastoma
  • medulloblastoma
  • neuroblastoma
• PSA
  
  • produced by normal prostate cells

Question 29

What are carcinoid tumors & where do they most commonly arise?

Answer 29

produce high concentration of serotonin

small intestine