test #21 4.11 Flashcards
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
MEN2B
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..
billirubin
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
increased MCHC
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..
autoimmune hepatitis
antimitochondrial 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
physiostigmine
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
dark purple
iron stain
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.
aneurysms in PComm, PCA, or SCA can affect
oculomotor n.
aneurysms in AICA can compress (2)
facial and vestibulocochlear n.
2 ways loop diuretics (furosemide) stimulate diuresis
- block NKCC (limit Na+ Cl- reabsorption
2. stimulate prostaglandin release (vasodilate afferent arteriole, increasing GFR)
Nesiritide
BNP analog, used in setting of acute decompensated heart failure for (1) vasodilation & (2) diuretic effects
broca aphasia have problems w/ writing/signing?
YES. damage to inferior frontal gyrus of dominant (usu left) impairs all communicative motor planning!
associated impairment w/ broca aphasia
right hemiparesis
associated impairment w/ wernicke aphasia
right superior visual field defect
describe problems w/ conduction aphasia
lesion of arcuate fasiculus. fluent speech w/ phonemic errors. preserved comprehension but poor repetition.
damage to frontal eye fields cause..
deviation to ipsilateral side.
located immediately anterior to precentral gyrus
calories / gram of (1) protein (2) carbs (3) alcohol (4)
(1) protein: 4 cal/gram (2) carbohydrates: 4cal/gram (3) alcohol: 7cal/gram (4) fat: 9cal/gram
transcortical aphasias. (motor, sensory, mixed)
maintain ability to repeat.
transcortical motor: repeat, nonfluent speech, intact comprehension.
transcortical sensory: repeat, fluent, poor comprehension
transcortical mixed: repeat, poor comprehension, nonfluent speech.
extensive lymphocytic infiltration and granulomatous destruction of interlobular bile ducts
primary biliary cirrhosis (autoimmune destruction of intrahepatic bile ducts and cholestasis). “florid duct lesion:
most common in middle age women, insiduous onset. pruitis, fatigue, hepatosplenomegaly, evidence of cholestasis (xanthelasma, pale stool)
middle age women w/ fever, prolonged episode of severe RUQ pain after fatty meal
acute cholescystitis
man w/ long history of ulcerative colitis w/ fatigue and high ALP?
primary sclerosing cholangitis.
unknown cause: concentric “onion-skin” bile duct fibrosis –> alternating strictures and dilation with beading of intra & extrahepatic bile ducts on ERCP
cholangitis vs. cholecystitis
cholangitis: bacterial infection of BILE DUCT. usu ascending w/ gram - bacteria. presents as sepsis (high fever, chills) jaundice, abdominal pain. increased incidence of choledocholithiasis
cholecystitis: acute or chronic inflammation of GALLBLADDER. usu from cholelithiasis. (rarely primary w/ CMV). will also have increased ALP if bile ducts become involved
what causes cholecystitis?
usu secondary to obstruction: cholesthiasis. RARELY primary (CMV).