Flashcards in test #21 4.11 Deck (114)
tumors associated w/ von-Hippel Lindau
hemangioblastomas, pheochromocytoma, and renal cell carcinoma
mutations in retinoblastoma associated with..
osteosarcoma and bilateral retinoblastoma (Rb - tumor suppressor involved in transition of G1 to S)
location of MEN1 mutation
MENIN gene chromosome 11
which MEN syndrome is associated with marfanoid habitus
sign of mature fetal lungs in amniocentesis
lecithin / sphingomyelin ratio > or = 2.
lecithin = phoshatidylcholine.
mature = making surfactant
in suspected erythroblastosis fetalis, measure amniotic fluid for..
amniotic measurement of 17-hydroxyprogesterone tests for..
21-B hydroxlase deficiency
main form of therapy for urea cycle (ornithine cycle) defects?
protein restriction (enough for growth & development though)
heterozygotes for sickle cell trait (HbAS) are..
protected from sickle cell crises, aplastic crises, sequestration crises (bc >50% HbA).
protection from Plasmodium falciparum.
peripheral smears are usu normal, as is retic count.
WILL sickle when sodium metabisulfite is added
mean corpuscular hemoglobin concentration. increased when dehydrated.
nasal mucosal ulcerations & glomerulonephritis
wegener's (granulomatosis w/ polyangiitis)
c-ANCA + is virtually pathognomonic for..
Wegener's (granulomatosis w/ polyangiitis). target neutrophil proteinase 3
smooth muscle cell antibodies..
primary biliary cirrhosis
expectations by age 3
parallel play (not cooperative), tricycle, climb stairs, identify self w/ name and gender, copy shapes.
most common cause of aseptic meningitis?
eneterovirus (90%) of cases. fecal-oral (coxsackie, echo, polio) replicate in GI tract but usu don't cause gastroenteritis.
presentation of poliomyelitis
unvaccinated immigrant from endemic regions.
fever, malaise, aseptic meningitis first ((photophobia, painful extraocular muscle movements)
then myalgia and asymmetric paralysis (classically affecting legs) -- damage to lower motor neurons -- HYPOREFLEXIC paralysis
rx: atropine overdose. tertiary amine, so crosses blood brain barrier (fixes PNS and CNS). acetylcholinesterase inhibitor
which artery runs with radian nerve?
DEEP brachial artery.
brachial artery travels medially along arm into antecubital fossa.
midshaft fracture of humerus (2)
radian n. & deep brachial artery damage
non-extensor actions of radian n. (2)
brachioradiali (forearm flexor) also supinator muscles
supracondylar fractures of humerus (2)
proximal median n. & brachial artery
periodic acid-schiff reaction
periodic acid oxidizes carbon-carbon bonds --> forms aldehydes that product magenta when react w/ fuschin-sulfurous acid.
good at detecting polysaccharides, mucosubstances, basement membranes.
diastatse + PAS = glycogen (will digest glycogen to maltose and glucose, which will wash off, negative rxn)
strongly PAS+ intestine
whipple disease (infxn w. tropheryma whipplei)
describe malabsorption & symptoms of whipple disease
infection w/ the actinomycete tropheryma whipplei in macrophages of small intestine--> foamy macrophages --> compress lacteals and impair fat absorption. PAS+ & diastase-resistant intestine.
foamy whipped -- CANN
cardiac, arthralgia, mesenteric nodes, neurological symptoms.
usu older men.
calcium colour on H&E
prussian blue, dark blue
neutral lipid stain
nile red or sudan black
path of CN III
courses between PCA and SCA as it leaves midbrain. susceptible to injury from aneurysm in these vessels.
travels w/ PComm.