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RR classic presentations > missed questions > Flashcards

missed questions Flashcards

1
Q

cause of splenomegaly in pyruvate kinase deficiency

A

red pulp hyperplasia

pyruvate kinase deficiency > low ATP > hemolytic anemia

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2
Q

maintenance of blood glucose during fasting

A

gluconeogenesis

oxaloacetate–>phosphoenolpyruvate

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3
Q

pentose phosphate pathway (HMP shunt) produces NADPH, which is necessary for… (4 things)?

A
  1. glutathione reduction in RBCs
  2. fatty acid biosynthesis
  3. cholesterol synthesis
  4. respiratory burst in phagocytic cells
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4
Q

enzyme necessary to break down fatty acids (beta oxidation)

A

acyl-CoA dehydrogenase

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5
Q

systemic primary carnitine deficiency

A

can’t transport long chain fatty acids into mitochondria
Unable to run TCA cycle (»low ATP) and unable to synthesize ketone bodies (acetoacetate) when glucose levels are low
S/S: weakness, hypotonia, hypoketotic hypoglycemia, myopathy

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6
Q

enzyme that metabolizes fructose in essential fructosuria

A

hexokinase

fructose –> fructose-6P

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7
Q

conditions causing RIGHT shift of oxygen dissociation curve

A 
ACE BATs right handed: (increase in)
Acid
CO2
Exercise
2,3-BPG
Altitude
Temperature
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8
Q

enzyme responsible for pigmented gallstones

A

beta glucuronidase

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9
Q

enzyme with INCREASED activity in Lesch-Nyan

A

Phosphoribosyl pyrophosphate amidotransferase (PRPP amidotransferase)

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10
Q

Function of ApoE

A

chylomicron remnant uptake by liver cells

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11
Q

classic galactosemia

A

absence of galactose-1-phosphate uridyltransferase
converts galactose-1-phosphate to UDP-galactose
accumulation of galactitol (causes cataracts), failure to thrive, jaundice, hepatomegaly, intellectual disability
tx: exclude galactose and lactose from diet

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12
Q

most abundant amino acid in collagen

A

glycine

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13
Q

location of oxidation of very long chain fatty acids (VLCFA) and phytanic acid

A

peroxisomes

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14
Q

alcoholic with Wernicke encephalopathy:

vitamin deficiency

A

B1 (thiamine)

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15
Q

enzymes that require cofactor B1

A
  1. pyruvate dehydrogenase
  2. alpha-ketoglutarate dehydrogenase
  3. branched chain alpha-ketoacid dehydrogenase
  4. transketolase (PPP)
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16
Q

essential cofactor in phenylalanine metabolism

A

tetrahydrobiopterin (BH4)

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17
Q

enzyme that generates the cofactor for phenylalanine metabolism

A

dihydropteridine reductase

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18
Q

difficulty breathing, chills, pain in chest and back and hemoglobinuria following blood transfusion

A

acute hemolytic transfusion reaction
type II hypersensitivity (antibody-mediated)
complement-mediated cell lysis

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19
Q

prevention of calcium stones in kidney

A

potassium citrate

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20
Q

hypertension, hypokalemia

high renin, high aldosterone

A

secondary hyperaldosteronism: renovascular HTN, malignant HTN, renin-secreting tumor (JG cells), diuretic use

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21
Q

hypertension, hypokalemia

low renin, high aldosterone

A

primary hyperaldosteronism: aldosterone-producing tumor; bilateral adrenal hyperplasia

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22
Q

hypertension, hypokalemia

low renin, low aldosterone

A

non-aldosterone causes: congenital adrenal hyperplasia, deoxycorticosterone-producing adrenal tumor, Cushing syndrome, exogenous mineralocorticoids

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23
Q

adult derivatives of metanephric mesoderm (renal)

A

glomerulus through to distal convoluted tubule

24
Q

adult derivatives of ureteric bud

A

ureter, pelvises, calyces, collecting ducts

25
Q

decreased intestinal and renal PCT absorption of cystine, ornithine, lysine, and arginine (COLA)

A

hexagonal cystine stones

dz: cystinuria

26
Q

fatigue, pitting edema, bp 162/93, urinalysis: 2+ protein, WBC 507, RBC 75-100, linear IF
diagnosis?

A 
rapidly progressive (crescentic) glomerulonephritis
>Goodpasture
27
Q

filtration fraction (equation)

A

GFR/RPF

28
Q

section(s) of the nephron most susceptible to ischemic injury

A

proximal collecting tubule
thick ascending limb
(use ATP)

29
Q

pathways activated by insulin binding its receptor

A

Insulin binds–> tyrosine kinase phosphorylation
activates two pathways:
1. phosphoinositide-3 kinase (PI3K) > protein phosphatase > GLUT-4, glycogen/lipid/protein synthesis
2. RAS/MAP kinase pathway > cell growth, DNA synthesis

30
Q

pyruvate dehydrogenase complex deficiency

enzyme supplements?

A

lysine and leucine (ketogenic nutrients, high fat)

31
Q

effect of high 2,3-BPG on erythrocyte glucose metabolism

A

high 2,3-BPG=low blood oxygen

no net gain in ATP during glycolysis (BPG bypasses ATP-generating step)

32
Q

osteocyte cell junction

A

gap junctions

33
Q

vessels contained within hepatoduodenal ligament

A

proper hepatic artery, common bile duct, portal vein

34
Q

Ladd bands

A

midgut malrotation

fibrous bands connect retroperitoneum in RLQ to right colon/cecum

35
Q

Fragile X: genetic cause

A

increased number of CGG repeats&raquo_space; hypermethylation and inactivation of FMR1

36
Q

factitious disorder

A

intentional falsification or inducement of symptoms with goal to assume sick role

37
Q

somatic symptom disorder

A

excessive anxiety and preoccupation with 1 or more unexplained symptoms

38
Q

illness anxiety disorder

A

fear of having a serious illness despite few or no symptoms and consistently negative evaluations

39
Q

conversion disorder

A

neurologic symptom incompatible with any known neurologic disease; often acute onset associated with stress

40
Q

malingering

A

falsification or exaggeration of symptoms to obtain external incentives (secondary gain)

41
Q

How does TNF-alpha cause a decrease in insulin-mediated glucose uptake?

A

serine residue phosphorylation of insulin receptor substrates (IRS-1)

42
Q

mechanism of death cap mushroom toxin (alpha-amanitin)

A

inhibits RNA polymerase II&raquo_space; no mRNA synthesis

severe hepatotoxicity

43
Q

RNA polymerase I

A

ribosomal RNA (most numerous)

44
Q

RNA polymerase II

A

mRNA

45
Q

RNA polymerase III

A

transfer RNA

46
Q

location of dietary lipid absorption

A

jejunum

47
Q

DNA polymerase I

A

degrades RNA primer, replaces with DNA

excises RNA primer with 5’->3’ exonuclease

48
Q

inhaled anesthetic: large arteriovenous concentration gradient (=high tissue solubility)

A

slow onset of action

49
Q

potency of inhaled anesthetic

A

1/minimal alveolar concentration (MAC)

50
Q

enzyme involved in breaking down foreign intracellular proteins (i.e., virus particles) to be presented on MHC class I

A

ubiquitin ligase

51
Q

best indicator of severe mitral regurgitation

A

presence of S3 gallop
(indicates increased rate of LV filling due to a large volume of regurgitant flow re-entering the ventricle during mid-diastole)

52
Q

treatment of Wernicke encephalopathy

A

give thiamine supplementation WITH glucose. Glucose alone in pt with thiamine deficiency can precipitate encephalopathy and hemorrhage into maxillary bodies

53
Q

effect of chronic arteriovenous shunt on cardiac function

A

increased cardiac output (increased sympathetic stimulation to heart, decreased TPR)
increased venous return

54
Q

etoposide

A

inhibits topoisomerase II&raquo_space; double stranded DNA breaks

55
Q

left 12th rib fracture–injury to what organ?

A

left kidney

RR classic presentations (4 decks)

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