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).
Rokitansky-Aschoff sign of chronic cholescystitis
herniation of gallbladder mucosa into muscle wall. Rokitansky-Aschoff sinus – look like ducts in muscle. late complication: porcelain gallbladder.
3 clinical presentation of Fabry disease? enzyme deficiency? build-up metabolite? inheritance
X-linked recessive. defecient alpha-galactosidase-A. build up ceramide trihexoside.
- peripheral neuropathy (hands/feet)
- angiokeratoma
- cardiovascular / renal disease
earliest signs: hypohidrosis, acroparaesthesia (episodic, debilitating, burning neuropathic pain), angiokeratoma (punctate, dark red, non-blanching macules & papules between umbillicus and knees)
die from renal failure
fucosidosis
rare lysosomal disease, deficiency of alpha-L-fucosidase. can have spasticity.
pts at risk for acute leukemia
down syndrome, patau syndrome, ataxia-telangiectasia, bloom syndrome, fanconi anemia
degree of cyanosis in tetrology of fallot
depends on degree of pulmonic stenosis (determines degree of right-to-left shunting)
clinical presentation of legionella pneumonia? X-ray?
HYPONATREMIA. pneumonia. watery diarrhea. headache & confusion. sputum w/ neutrophils but no organism.
exposure to contaminated water (cruise or hotel).
unlike OTHER atypical pneumonias – usu see unilobal infiltrate that progresses to consolidation
etiology of hyponatremia in legionella
inappropriate release of ADH and/or renal tubulointerstitial disease that impairs reabsorption of Na+.
DNA Pol III
5’-3’ synthesis w/ 3-5’ exonuclease activity (proofread while synthesizing, can mix a mistake it just made)
DNA Pol I
5-3’ exonuclease activity w/ 5’-3’ synthesis too
cause of instability // hypervariation in hepatitis C RNA-dependent-RNA pol
no 3’-5’ exonuclease (proofreading) activity
reaction triggered by thymidylate synthase. what does it also require?
dUMP —> dTMP, gets methyl group from N5,N10 methylene tetrahydrofolate –> DHF.
DHF then —> THF by dihydrofolate reductase (inhibited by methotrexate)
DNA intercalaters (causing defective base pairing and splitting of DNA strands)
anthracyclines (daunorubicin and doxorubicin)
integrase inhibitor
raltegravir
describe acanthosis nigricans
hyperkeratotic, hyperpigmented plaques w/ velvety texture. skin tags (acrochordons) are pedunculated outgrowths of normal skin that are commonly present
benign acanthosis nigricans? malignant?
benign: insulin resistance (increased levels of insulin & insulin-like growth factors –> epidermal and dermal proliferation) like diabetes mellitus, acromegaly, obesity
malignant: underlying neoplasm. GI and GU tract. gastric adenocarcinoma most especially.
K+ regulation in kidney
100% filtered, 65%reabsorbed PCT, 35% reabsorbed in TAL.
MAJOR mediations in principal and alpha-intercalated cells.
hypokalemia: reabsorption via H/K+ ATPase on a-intercalated cells.
hyperkalemia: secretion via K+ channels on principal cells
4 states promoting K+ excretion
- high extracellular K+ levels
- increased aldosterone
- alkalosis
- increased fluid flow through tubules (i.e. volume expansion, high sodium intake, diuretic use)
types of AML
m0-m7. m3 is APML, associated with t(15,17).
3 most common causes of hair loss in adults between 18-45
(1) male pattern baldness (androgenetic alopecia)
(2) tinea capitis (ringworm)
(3) telogen effluvium
only first is inherited (polygenic or autosomal dominant
hair loss w/ male pattern baldness vs. tinea capitis
tinea capitis: isolate pruritic lesions on scalp. central clearing. rx: terbinafine (squalene epoxide inhibitor). need SYSTEMIC bc topical do not penetrate hair follicle enough
male pattern: receding hairline & patch at vertex
alopecia areata
autoimmune disorder that causes patchy/diffuse hair loss. rx: topical corticosteroids
rx for severe acne
oral isotretinoin. inhibits follicular epidermal keratinization (maintains specialized epithlium)
cholestasis can lead to what vitamin deficiency? what may result?
vitamin ADEK!! fat soluble. can have osteomalacia!
both obstructive and nonobstructive cholestasis characterized by..
deposition of bile pigment within the hepatic parenchyma. green-brown plugs in dilated bile canaliculi. (impaired absorption of vitamin ADEK)
half-life
(0.7Vd) / Cl
maintenance dose
amount that must be administered to equal amount that is cleared
= (desired plasma concentration x Cl)/bioavailability fraction
loading dose
(Vd x desired plasma concentration) / bioavailability fraction
when patients have renal / hepatic failure, what pharmacokinetic parameter must be altered?
maintenance dose, bc clearance will be altered.
mesenteric adenitis
children 5-14y/o. yersenia enterocolitica. nonspecific, abdominal pain in right lower quadrant
late complication of appendicitis
peritonitis or abscess formation (not fistula)
main presentation of crohn’s disease? ulcerative colitis
crohn’s – transmural – abdominal pain.
ulcerative colitis – mucosa – bloody diarrhea
transtentorial herniation (uncal)
medial temporal lobe through crus cerebri and tentorium
subfalcine herniation
cingulate gyrus under falx cerebri – compress AVA
tonsilar herniation
cerebellar tonsils through foramen magnum – compress medulla
presentation of transtentorial herniation (4)
(1) ipsilateral oculomotor - ptosis & down & out
(2) PCA occlusion - contralateral homonymous hemianopsia
(3) contralateral crus cerebri - ipsilateral spastic paralysis – “false localization sign”
(4) duret hemorrhage: brainstem hemorrhage in pons and midbrain due to stretching and rupture of basilar artery (fatal)
tetracyclines during pregnancy (2)
fetal bone growth retardation and discoloration of deciduous teeth
ACE inhibitor use in pregnancy
TERATOGEN
disorganized schizophrenia
incoherent speech, inappropriate affect, too disorganized to take care of self / perform daily activities of living (showering, dressing)
residual schizophrenia
persistence of symptoms like emotional blunting, eccentric behavior, loose associations between episodes of ACTIVE schizophrenia.
LACK prominent hallucinations, delusions, disorganized speech, catatonia. BURNED OUT schizophrenic
undifferentiated schizophrenia
schizophrenic but do not fall into subtype. no prominent feature.
which hepatitis virus carries increased risk of hepatocellular carcinoma?
hepatitis B, C, and D
most effective way to decline HCC worldwide?
HBV vaccination
rapid acting insulin (3). best when?
lispro, aspart, glulisine. best for post-meal hyperglycemia.
action less than 15min
short-acting insulin (1) best when?
normal insulin. best IV.
takes 30min to start work subcut, w/ peak in 2-4 hours. bc forms dimers and hexamers.
intermediate acting insulin (1)
NPH (twice daily–basal)
neutral protamine Hagedorn. crystalline suspension w/ protamine and zinc. prolongs activty by delaying absorption.
long-acting insulin (2)
glargine, determir. once daily
glargine: ppts in subcutaneous tissue – very slow absorption
determir: fatty acid side-chain, allows albumin binding & slow dissolution
types of insulin needed for diabetes
often need a basal (long-acting) + postprandial (short-acting)
IgA protease made by..
Neisseria gonorrhea (genital region) and meningitidis (oropharynx)
presentation of epiglottitis
sore throat, DYSPHAGIA, DROOLING, respiratory distress. haemophilus influenzae
common etiological agents of nasopharyngitis (common cold)
nasal congestion, discharge, sneezing, cough, sore throat
rhinovirus, influenza virus, coronavirus
presentation of laryngotracheitis (croup)
parainfluenza virus
upper respiratory tract symptoms followed by hoarseness, BARKING COUGH, STRIDOR, and repsiratory distress
STEEPLE SIGN
bronchiolitis
upper respiratory tract symptoms followed by WHEEZING, cough, respiratory distress.
RSV
3 post-processing of pre-RNA or hnRNA
methylguanosine cap, poly-A tail, splicing
major site of digestion of dietary lipids? absorption.
DIGESTION: duodenum.
ABSORPTION: jejunum
describe fat absorption
bile salts, fatty acids, 2-monoacylglycerol, cholesterol form micelles. allows close contact w. gut. fatty acid, cholesterol, monoaceylglycerol diffuse through brush border membrane (no assistance from transporters).
inside cell: triglycerides & cholesteryl esters reconstructed – chylomicrons.
bile acid reabsoprtion
in ileum. enterohepatic circulation
how does cholcystectomy affect fat absorption
increase in RATE of enterohepatic circulation (no storage for bile –> constantly released into duodenum.
less able to tolerate large fatty meals bc do not have ability to release large amount of stored bile in a coordinated fashion.
what can the stomach absorb
water and alcohol.
where are fat soluble vitamins absorbed
like lipids, in jejuneum
what is absorbed in ileum
B12 and bile salts
what is absorbed in colon
fluid and electrolytes
howell-jowel bodies
nuclear remnants in RBCs. sign of splenectomy / asplenia
where do we see spherocytes
autosomal dominant hereditary spherocytosis, autoimmune hemolytic anemia, burns, un-fresh blood samples
target cells seen in..
obstructive liver disease, thalassemia, iron deficiency anemia, asplenism
most common cause of sporadic encephalitis. macroscopic? histology?
HSV-1. temporal lobe. reactivation of latent virus “living” in trigeminal ganglion. virus’ spread along this nerve into cerebral vault.
macrosopic: edema and hemorrhagic necrosis of temporal lobes. Cowdry type A intranuclear inclusions in glial and neuronal cells. multinucleated giant cells.
can DIE from it
first week of TB exposure
if droplets small enough to enter alveoli, can ESTABLISH infection. large droplets cleared w/ mucocilary motion.
mycobacteria phagocytosed by alveolar macrophage. sulfatide virulence factor allows for INTRACELLULAR PROLIFERATION.
later, cellular lysis. infect others. virulence factors recruit more inactivated neutrophils and undermine immunological signaling between them.
EVENTUALLY antigen carrying macrophages / dendritic cells go to lymph, induce helper T cell (2-4 wks later)
describe epitheliod transformation of macrophages
after activation of cell-mediated immune response (2-4 wks after exposure). Th1 activated macrophages consume undigestible ish (TB), loose motility, accumulate, transform into epitheliod cells. eventually – multinucleated Langhans giant cells form – fusion of multiple epitheliod cells. arranged in arc along periphery
scattered caseous necrosis in TB (GHON FOCI)
secondary immune response due to Th1 T lymphocyte activation of macrophages. release chemotactic cytokines (like IFN-gamma) to attract other leukocytes. enhanced inflammatory response against foci of TB. results in locate tissue necrosis, macrophages, giant cells, fibroblasts –> combine to form caseating granuloma. small foci of bacteria killed, while larger necrotic areas are WALLED off –> GHON FOCI.
ghon foci – potential source of reactivation if immunosuppressed
B cell response to TB
after antigen presenting cell activates T cells, which do both Th1 and Th2 response. immunoglobulins are hardly helpful bc intracellular.
