True Learn Test Flashcards
Mutation & presentation of a patient with Wilson’s disease?
(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)
What disease (and mutation) is indicative of the following symptoms:
precocious puberty
cafe-au-lait macule
fibrous dysplasia of the bone
McCune-Albright Syndrome
mutation GNAS - increased production of pituitary hormomes
What are the organisms that have a low ID50? This is generally b/c what characteristic?
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
Presumable dianosis for a patient who lives in Wisconsin with constitutional symptoms, verrucous skin lesions, and lytic bone lesions?
blastomycosis
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?
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
Night blindness & xerophthalmia are both symptoms of what vitamin deficiency?
Deficiency in this enzyme is most commonly caused by what?
vitamin A
malabsorption syndrome (ie. celiac disease), chronic pancreatitis, pancreatic insuficiency, biliary disease
What is the underlying pathophysiology of an aortic dissection resulting from aging/hypertension?
cystic medial degeneration (replacement of collage, elastin & smooth muscle by basophilic mucoid extracellular matrix with irregular fiber cross-linkages and cystic collections of mucopolysaccharides)
What vitamin deficiency is characterized by stomatits, angular chelitis, glossitis, erythematous rash, normochromic anemia?
riboflavin (vit B2)
What are the “3 d’s” associated with pellegra?
This is due to a deficiency in what enzyme?
diarrhea, dermatitis, dementia
niacin (vit. B3)
Symptoms of vitamin c deficiency?
easy bruising, petichiase, bleeding gums, anemia
How can you differentiate between gout & pseudogout crystals under polarized light?
- gout (monosodium urate crystals)
- yellow when parallel
- blue when perpendicular
- pseudogous (calcium pyrophosphate)
- blue when parallel
- yellow when perpendicular
- rhomboid shaped crystals
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If a patient develops QT prolongatio & bradycardia in response to a rhythym treatmet for afib, what drugs could they have been given?
sotalol
dofetilide
MC us of adenosine as a heart medication?
SVT
What heart condition causes a decrescendo diastolic murmur at the lest sternal border?
aortic regurgitation
What are the difference in the caues of eccentric LV hypertrophy vs. concentric LV hypertophy?
eccentric - d/t volume overload (aortic regurg)
concentric - d/t pressure overload (aortic stenosis, systemic hypertension)
Indirect inguinal hernias are associated with what congenital issue?
patency of the processus vaginalis
What is the mechanism of action of metformin?
decrease hepatic gluconeogenesis via inhibition of mitochondrial glycerophosphate dehydrogenase
What is the difference in histology of chronic pulmonary edema vs. chronic pulmonary edema?
- acute
- engorged capillaries
- intra-alveolar pink material
- chronic
- hemosiderin-laden macrophages (“heart failure cells”)
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What is the only trisomy to have increased Bhcg in the first trimester screening?
trisomy 21
What is the only congenital defect to cause increase alpha-fetoprotein in the second trimester screening?
neural tube defect
Which trisomies have decreased estriol in the second trimester screening?
trisomy 21 & 18
What is the only trisomy to have normal B-hcg in the second trimester screening?
trisomy 13
What is the most likely diagnosis of a patient with anterior mediastinal mass, generalized pruritis, alcohol-associated pain, peripheral eosinophilia, and elevated LDH?
hodgkin lymphoma
