missed questions

Question 1

cause of splenomegaly in pyruvate kinase deficiency

Answer 1

red pulp hyperplasia

pyruvate kinase deficiency > low ATP > hemolytic anemia

Question 2

maintenance of blood glucose during fasting

Answer 2

gluconeogenesis

oxaloacetate–>phosphoenolpyruvate

Question 3

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

Answer 3

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

Question 4

enzyme necessary to break down fatty acids (beta oxidation)

Answer 4

acyl-CoA dehydrogenase

Question 5

systemic primary carnitine deficiency

Answer 5

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

Question 6

enzyme that metabolizes fructose in essential fructosuria

Answer 6

hexokinase

fructose –> fructose-6P

Question 7

conditions causing RIGHT shift of oxygen dissociation curve

Answer 7

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

Question 8

enzyme responsible for pigmented gallstones

Answer 8

beta glucuronidase

Question 9

enzyme with INCREASED activity in Lesch-Nyan

Answer 9

Phosphoribosyl pyrophosphate amidotransferase (PRPP amidotransferase)

Question 10

Function of ApoE

Answer 10

chylomicron remnant uptake by liver cells

Question 11

classic galactosemia

Answer 11

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

Question 12

most abundant amino acid in collagen

Answer 12

glycine

Question 13

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

Answer 13

peroxisomes

Question 14

alcoholic with Wernicke encephalopathy:

vitamin deficiency

Answer 14

B1 (thiamine)

Question 15

enzymes that require cofactor B1

Answer 15

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

Question 16

essential cofactor in phenylalanine metabolism

Answer 16

tetrahydrobiopterin (BH4)

Question 17

enzyme that generates the cofactor for phenylalanine metabolism

Answer 17

dihydropteridine reductase

Question 18

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

Answer 18

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

Question 19

prevention of calcium stones in kidney

Answer 19

potassium citrate

Question 20

hypertension, hypokalemia

high renin, high aldosterone

Answer 20

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

Question 21

hypertension, hypokalemia

low renin, high aldosterone

Answer 21

primary hyperaldosteronism: aldosterone-producing tumor; bilateral adrenal hyperplasia

Question 22

hypertension, hypokalemia

low renin, low aldosterone

Answer 22

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

Question 23

adult derivatives of metanephric mesoderm (renal)

Answer 23

glomerulus through to distal convoluted tubule

Question 24

adult derivatives of ureteric bud

Answer 24

ureter, pelvises, calyces, collecting ducts

Question 25

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

Answer 25

hexagonal cystine stones | dz: cystinuria

Question 26

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

Answer 26

``` rapidly progressive (crescentic) glomerulonephritis >Goodpasture ```

Question 27

filtration fraction (equation)

Answer 27

GFR/RPF

Question 28

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

Answer 28

proximal collecting tubule thick ascending limb (use ATP)

Question 29

pathways activated by insulin binding its receptor

Answer 29

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

Question 30

pyruvate dehydrogenase complex deficiency | enzyme supplements?

Answer 30

lysine and leucine (ketogenic nutrients, high fat)

Question 31

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

Answer 31

high 2,3-BPG=low blood oxygen | no net gain in ATP during glycolysis (BPG bypasses ATP-generating step)

Question 32

osteocyte cell junction

Answer 32

gap junctions

Question 33

vessels contained within hepatoduodenal ligament

Answer 33

proper hepatic artery, common bile duct, portal vein

Question 34

Ladd bands

Answer 34

midgut malrotation | fibrous bands connect retroperitoneum in RLQ to right colon/cecum

Question 35

Fragile X: genetic cause

Answer 35

increased number of CGG repeats >> hypermethylation and inactivation of FMR1

Question 36

factitious disorder

Answer 36

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

Question 37

somatic symptom disorder

Answer 37

excessive anxiety and preoccupation with 1 or more unexplained symptoms

Question 38

illness anxiety disorder

Answer 38

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

Question 39

conversion disorder

Answer 39

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

Question 40

malingering

Answer 40

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

Question 41

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

Answer 41

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

Question 42

mechanism of death cap mushroom toxin (alpha-amanitin)

Answer 42

inhibits RNA polymerase II >> no mRNA synthesis | severe hepatotoxicity

Question 43

RNA polymerase I

Answer 43

ribosomal RNA (most numerous)

Question 44

RNA polymerase II

Answer 44

mRNA

Question 45

RNA polymerase III

Answer 45

transfer RNA

Question 46

location of dietary lipid absorption

Answer 46

jejunum

Question 47

DNA polymerase I

Answer 47

degrades RNA primer, replaces with DNA | excises RNA primer with 5'->3' exonuclease

Question 48

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

Answer 48

slow onset of action

Question 49

potency of inhaled anesthetic

Answer 49

1/minimal alveolar concentration (MAC)

Question 50

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

Answer 50

ubiquitin ligase

Question 51

best indicator of severe mitral regurgitation

Answer 51

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)

Question 52

treatment of Wernicke encephalopathy

Answer 52

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

Question 53

effect of chronic arteriovenous shunt on cardiac function

Answer 53

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

Question 54

etoposide

Answer 54

inhibits topoisomerase II >> double stranded DNA breaks

Question 55

left 12th rib fracture--injury to what organ?

Answer 55

left kidney