missed questions Flashcards
cause of splenomegaly in pyruvate kinase deficiency
red pulp hyperplasia
pyruvate kinase deficiency > low ATP > hemolytic anemia
maintenance of blood glucose during fasting
gluconeogenesis
oxaloacetate–>phosphoenolpyruvate
pentose phosphate pathway (HMP shunt) produces NADPH, which is necessary for… (4 things)?
- glutathione reduction in RBCs
- fatty acid biosynthesis
- cholesterol synthesis
- respiratory burst in phagocytic cells
enzyme necessary to break down fatty acids (beta oxidation)
acyl-CoA dehydrogenase
systemic primary carnitine deficiency
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
enzyme that metabolizes fructose in essential fructosuria
hexokinase
fructose –> fructose-6P
conditions causing RIGHT shift of oxygen dissociation curve
ACE BATs right handed: (increase in) Acid CO2 Exercise 2,3-BPG Altitude Temperature
enzyme responsible for pigmented gallstones
beta glucuronidase
enzyme with INCREASED activity in Lesch-Nyan
Phosphoribosyl pyrophosphate amidotransferase (PRPP amidotransferase)
Function of ApoE
chylomicron remnant uptake by liver cells
classic galactosemia
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
most abundant amino acid in collagen
glycine
location of oxidation of very long chain fatty acids (VLCFA) and phytanic acid
peroxisomes
alcoholic with Wernicke encephalopathy:
vitamin deficiency
B1 (thiamine)
enzymes that require cofactor B1
- pyruvate dehydrogenase
- alpha-ketoglutarate dehydrogenase
- branched chain alpha-ketoacid dehydrogenase
- transketolase (PPP)
essential cofactor in phenylalanine metabolism
tetrahydrobiopterin (BH4)
enzyme that generates the cofactor for phenylalanine metabolism
dihydropteridine reductase
difficulty breathing, chills, pain in chest and back and hemoglobinuria following blood transfusion
acute hemolytic transfusion reaction
type II hypersensitivity (antibody-mediated)
complement-mediated cell lysis
prevention of calcium stones in kidney
potassium citrate
hypertension, hypokalemia
high renin, high aldosterone
secondary hyperaldosteronism: renovascular HTN, malignant HTN, renin-secreting tumor (JG cells), diuretic use
hypertension, hypokalemia
low renin, high aldosterone
primary hyperaldosteronism: aldosterone-producing tumor; bilateral adrenal hyperplasia
hypertension, hypokalemia
low renin, low aldosterone
non-aldosterone causes: congenital adrenal hyperplasia, deoxycorticosterone-producing adrenal tumor, Cushing syndrome, exogenous mineralocorticoids
adult derivatives of metanephric mesoderm (renal)
glomerulus through to distal convoluted tubule
adult derivatives of ureteric bud
ureter, pelvises, calyces, collecting ducts
decreased intestinal and renal PCT absorption of cystine, ornithine, lysine, and arginine (COLA)
hexagonal cystine stones
dz: cystinuria
fatigue, pitting edema, bp 162/93, urinalysis: 2+ protein, WBC 507, RBC 75-100, linear IF
diagnosis?
rapidly progressive (crescentic) glomerulonephritis >Goodpasture
filtration fraction (equation)
GFR/RPF
section(s) of the nephron most susceptible to ischemic injury
proximal collecting tubule
thick ascending limb
(use ATP)
pathways activated by insulin binding its receptor
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
pyruvate dehydrogenase complex deficiency
enzyme supplements?
lysine and leucine (ketogenic nutrients, high fat)
effect of high 2,3-BPG on erythrocyte glucose metabolism
high 2,3-BPG=low blood oxygen
no net gain in ATP during glycolysis (BPG bypasses ATP-generating step)
osteocyte cell junction
gap junctions
vessels contained within hepatoduodenal ligament
proper hepatic artery, common bile duct, portal vein
Ladd bands
midgut malrotation
fibrous bands connect retroperitoneum in RLQ to right colon/cecum
Fragile X: genetic cause
increased number of CGG repeats»_space; hypermethylation and inactivation of FMR1
factitious disorder
intentional falsification or inducement of symptoms with goal to assume sick role
somatic symptom disorder
excessive anxiety and preoccupation with 1 or more unexplained symptoms
illness anxiety disorder
fear of having a serious illness despite few or no symptoms and consistently negative evaluations
conversion disorder
neurologic symptom incompatible with any known neurologic disease; often acute onset associated with stress
malingering
falsification or exaggeration of symptoms to obtain external incentives (secondary gain)
How does TNF-alpha cause a decrease in insulin-mediated glucose uptake?
serine residue phosphorylation of insulin receptor substrates (IRS-1)
mechanism of death cap mushroom toxin (alpha-amanitin)
inhibits RNA polymerase II»_space; no mRNA synthesis
severe hepatotoxicity
RNA polymerase I
ribosomal RNA (most numerous)
RNA polymerase II
mRNA
RNA polymerase III
transfer RNA
location of dietary lipid absorption
jejunum
DNA polymerase I
degrades RNA primer, replaces with DNA
excises RNA primer with 5’->3’ exonuclease
inhaled anesthetic: large arteriovenous concentration gradient (=high tissue solubility)
slow onset of action
potency of inhaled anesthetic
1/minimal alveolar concentration (MAC)
enzyme involved in breaking down foreign intracellular proteins (i.e., virus particles) to be presented on MHC class I
ubiquitin ligase
best indicator of severe mitral regurgitation
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)
treatment of Wernicke encephalopathy
give thiamine supplementation WITH glucose. Glucose alone in pt with thiamine deficiency can precipitate encephalopathy and hemorrhage into maxillary bodies
effect of chronic arteriovenous shunt on cardiac function
increased cardiac output (increased sympathetic stimulation to heart, decreased TPR)
increased venous return
etoposide
inhibits topoisomerase II»_space; double stranded DNA breaks
left 12th rib fracture–injury to what organ?
left kidney
