test #21 4.11 Flashcards

1
Q

tumors associated w/ von-Hippel Lindau

A

hemangioblastomas, pheochromocytoma, and renal cell carcinoma

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2
Q

mutations in retinoblastoma associated with..

A

osteosarcoma and bilateral retinoblastoma (Rb - tumor suppressor involved in transition of G1 to S)

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3
Q

location of MEN1 mutation

A

MENIN gene chromosome 11

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4
Q

which MEN syndrome is associated with marfanoid habitus

A

MEN2B

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5
Q

sign of mature fetal lungs in amniocentesis

A

lecithin / sphingomyelin ratio > or = 2.

lecithin = phoshatidylcholine.
mature = making surfactant
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6
Q

in suspected erythroblastosis fetalis, measure amniotic fluid for..

A

billirubin

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7
Q

amniotic measurement of 17-hydroxyprogesterone tests for..

A

21-B hydroxlase deficiency

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8
Q

main form of therapy for urea cycle (ornithine cycle) defects?

A

protein restriction (enough for growth & development though)

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9
Q

heterozygotes for sickle cell trait (HbAS) are..

A

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

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10
Q

increased MCHC

A

mean corpuscular hemoglobin concentration. increased when dehydrated.

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11
Q

nasal mucosal ulcerations & glomerulonephritis

A

wegener’s (granulomatosis w/ polyangiitis)

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12
Q

c-ANCA + is virtually pathognomonic for..

A

Wegener’s (granulomatosis w/ polyangiitis). target neutrophil proteinase 3

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13
Q

smooth muscle cell antibodies..

A

autoimmune hepatitis

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14
Q

antimitochondrial antibodies

A

primary biliary cirrhosis

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15
Q

expectations by age 3

A

parallel play (not cooperative), tricycle, climb stairs, identify self w/ name and gender, copy shapes.

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16
Q

most common cause of aseptic meningitis?

A

eneterovirus (90%) of cases. fecal-oral (coxsackie, echo, polio) replicate in GI tract but usu don’t cause gastroenteritis.

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17
Q

presentation of poliomyelitis

A

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

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18
Q

physiostigmine

A

rx: atropine overdose. tertiary amine, so crosses blood brain barrier (fixes PNS and CNS). acetylcholinesterase inhibitor

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19
Q

which artery runs with radian nerve?

A

DEEP brachial artery.

brachial artery travels medially along arm into antecubital fossa.

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20
Q

midshaft fracture of humerus (2)

A

radian n. & deep brachial artery damage

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21
Q

non-extensor actions of radian n. (2)

A

brachioradiali (forearm flexor) also supinator muscles

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22
Q

supracondylar fractures of humerus (2)

A

proximal median n. & brachial artery

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23
Q

periodic acid-schiff reaction

A

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)

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24
Q

strongly PAS+ intestine

A

whipple disease (infxn w. tropheryma whipplei)

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25
Q

describe malabsorption & symptoms of whipple disease

A

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.

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26
Q

calcium colour on H&E

A

dark purple

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27
Q

iron stain

A

prussian blue, dark blue

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28
Q

neutral lipid stain

A

nile red or sudan black

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29
Q

path of CN III

A

courses between PCA and SCA as it leaves midbrain. susceptible to injury from aneurysm in these vessels.

travels w/ PComm.

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30
Q

aneurysms in PComm, PCA, or SCA can affect

A

oculomotor n.

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31
Q

aneurysms in AICA can compress (2)

A

facial and vestibulocochlear n.

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32
Q

2 ways loop diuretics (furosemide) stimulate diuresis

A
  1. block NKCC (limit Na+ Cl- reabsorption

2. stimulate prostaglandin release (vasodilate afferent arteriole, increasing GFR)

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33
Q

Nesiritide

A

BNP analog, used in setting of acute decompensated heart failure for (1) vasodilation & (2) diuretic effects

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34
Q

broca aphasia have problems w/ writing/signing?

A

YES. damage to inferior frontal gyrus of dominant (usu left) impairs all communicative motor planning!

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35
Q

associated impairment w/ broca aphasia

A

right hemiparesis

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36
Q

associated impairment w/ wernicke aphasia

A

right superior visual field defect

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37
Q

describe problems w/ conduction aphasia

A

lesion of arcuate fasiculus. fluent speech w/ phonemic errors. preserved comprehension but poor repetition.

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38
Q

damage to frontal eye fields cause..

A

deviation to ipsilateral side.

located immediately anterior to precentral gyrus

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39
Q

calories / gram of (1) protein (2) carbs (3) alcohol (4)

A

(1) protein: 4 cal/gram (2) carbohydrates: 4cal/gram (3) alcohol: 7cal/gram (4) fat: 9cal/gram

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40
Q

transcortical aphasias. (motor, sensory, mixed)

A

maintain ability to repeat.

transcortical motor: repeat, nonfluent speech, intact comprehension.

transcortical sensory: repeat, fluent, poor comprehension

transcortical mixed: repeat, poor comprehension, nonfluent speech.

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41
Q

extensive lymphocytic infiltration and granulomatous destruction of interlobular bile ducts

A

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)

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42
Q

middle age women w/ fever, prolonged episode of severe RUQ pain after fatty meal

A

acute cholescystitis

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43
Q

man w/ long history of ulcerative colitis w/ fatigue and high ALP?

A

primary sclerosing cholangitis.

unknown cause: concentric “onion-skin” bile duct fibrosis –> alternating strictures and dilation with beading of intra & extrahepatic bile ducts on ERCP

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44
Q

cholangitis vs. cholecystitis

A

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

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45
Q

what causes cholecystitis?

A

usu secondary to obstruction: cholesthiasis. RARELY primary (CMV).

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46
Q

Rokitansky-Aschoff sign of chronic cholescystitis

A

herniation of gallbladder mucosa into muscle wall. Rokitansky-Aschoff sinus – look like ducts in muscle. late complication: porcelain gallbladder.

47
Q

3 clinical presentation of Fabry disease? enzyme deficiency? build-up metabolite? inheritance

A

X-linked recessive. defecient alpha-galactosidase-A. build up ceramide trihexoside.

  1. peripheral neuropathy (hands/feet)
  2. angiokeratoma
  3. 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

48
Q

fucosidosis

A

rare lysosomal disease, deficiency of alpha-L-fucosidase. can have spasticity.

49
Q

pts at risk for acute leukemia

A

down syndrome, patau syndrome, ataxia-telangiectasia, bloom syndrome, fanconi anemia

50
Q

degree of cyanosis in tetrology of fallot

A

depends on degree of pulmonic stenosis (determines degree of right-to-left shunting)

51
Q

clinical presentation of legionella pneumonia? X-ray?

A

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

52
Q

etiology of hyponatremia in legionella

A

inappropriate release of ADH and/or renal tubulointerstitial disease that impairs reabsorption of Na+.

53
Q

DNA Pol III

A

5’-3’ synthesis w/ 3-5’ exonuclease activity (proofread while synthesizing, can mix a mistake it just made)

54
Q

DNA Pol I

A

5-3’ exonuclease activity w/ 5’-3’ synthesis too

55
Q

cause of instability // hypervariation in hepatitis C RNA-dependent-RNA pol

A

no 3’-5’ exonuclease (proofreading) activity

56
Q

reaction triggered by thymidylate synthase. what does it also require?

A

dUMP —> dTMP, gets methyl group from N5,N10 methylene tetrahydrofolate –> DHF.

DHF then —> THF by dihydrofolate reductase (inhibited by methotrexate)

57
Q

DNA intercalaters (causing defective base pairing and splitting of DNA strands)

A

anthracyclines (daunorubicin and doxorubicin)

58
Q

integrase inhibitor

A

raltegravir

59
Q

describe acanthosis nigricans

A

hyperkeratotic, hyperpigmented plaques w/ velvety texture. skin tags (acrochordons) are pedunculated outgrowths of normal skin that are commonly present

60
Q

benign acanthosis nigricans? malignant?

A

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.

61
Q

K+ regulation in kidney

A

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

62
Q

4 states promoting K+ excretion

A
  1. high extracellular K+ levels
  2. increased aldosterone
  3. alkalosis
  4. increased fluid flow through tubules (i.e. volume expansion, high sodium intake, diuretic use)
63
Q

types of AML

A

m0-m7. m3 is APML, associated with t(15,17).

64
Q

3 most common causes of hair loss in adults between 18-45

A

(1) male pattern baldness (androgenetic alopecia)
(2) tinea capitis (ringworm)
(3) telogen effluvium

only first is inherited (polygenic or autosomal dominant

65
Q

hair loss w/ male pattern baldness vs. tinea capitis

A

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

66
Q

alopecia areata

A

autoimmune disorder that causes patchy/diffuse hair loss. rx: topical corticosteroids

67
Q

rx for severe acne

A

oral isotretinoin. inhibits follicular epidermal keratinization (maintains specialized epithlium)

68
Q

cholestasis can lead to what vitamin deficiency? what may result?

A

vitamin ADEK!! fat soluble. can have osteomalacia!

69
Q

both obstructive and nonobstructive cholestasis characterized by..

A

deposition of bile pigment within the hepatic parenchyma. green-brown plugs in dilated bile canaliculi. (impaired absorption of vitamin ADEK)

70
Q

half-life

A

(0.7Vd) / Cl

71
Q

maintenance dose

A

amount that must be administered to equal amount that is cleared

= (desired plasma concentration x Cl)/bioavailability fraction

72
Q

loading dose

A

(Vd x desired plasma concentration) / bioavailability fraction

73
Q

when patients have renal / hepatic failure, what pharmacokinetic parameter must be altered?

A

maintenance dose, bc clearance will be altered.

74
Q

mesenteric adenitis

A

children 5-14y/o. yersenia enterocolitica. nonspecific, abdominal pain in right lower quadrant

75
Q

late complication of appendicitis

A

peritonitis or abscess formation (not fistula)

76
Q

main presentation of crohn’s disease? ulcerative colitis

A

crohn’s – transmural – abdominal pain.

ulcerative colitis – mucosa – bloody diarrhea

77
Q

transtentorial herniation (uncal)

A

medial temporal lobe through crus cerebri and tentorium

78
Q

subfalcine herniation

A

cingulate gyrus under falx cerebri – compress AVA

79
Q

tonsilar herniation

A

cerebellar tonsils through foramen magnum – compress medulla

80
Q

presentation of transtentorial herniation (4)

A

(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)

81
Q

tetracyclines during pregnancy (2)

A

fetal bone growth retardation and discoloration of deciduous teeth

82
Q

ACE inhibitor use in pregnancy

A

TERATOGEN

83
Q

disorganized schizophrenia

A

incoherent speech, inappropriate affect, too disorganized to take care of self / perform daily activities of living (showering, dressing)

84
Q

residual schizophrenia

A

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

85
Q

undifferentiated schizophrenia

A

schizophrenic but do not fall into subtype. no prominent feature.

86
Q

which hepatitis virus carries increased risk of hepatocellular carcinoma?

A

hepatitis B, C, and D

87
Q

most effective way to decline HCC worldwide?

A

HBV vaccination

88
Q

rapid acting insulin (3). best when?

A

lispro, aspart, glulisine. best for post-meal hyperglycemia.

action less than 15min

89
Q

short-acting insulin (1) best when?

A

normal insulin. best IV.

takes 30min to start work subcut, w/ peak in 2-4 hours. bc forms dimers and hexamers.

90
Q

intermediate acting insulin (1)

A

NPH (twice daily–basal)

neutral protamine Hagedorn. crystalline suspension w/ protamine and zinc. prolongs activty by delaying absorption.

91
Q

long-acting insulin (2)

A

glargine, determir. once daily

glargine: ppts in subcutaneous tissue – very slow absorption
determir: fatty acid side-chain, allows albumin binding & slow dissolution

92
Q

types of insulin needed for diabetes

A

often need a basal (long-acting) + postprandial (short-acting)

93
Q

IgA protease made by..

A

Neisseria gonorrhea (genital region) and meningitidis (oropharynx)

94
Q

presentation of epiglottitis

A

sore throat, DYSPHAGIA, DROOLING, respiratory distress. haemophilus influenzae

95
Q

common etiological agents of nasopharyngitis (common cold)

A

nasal congestion, discharge, sneezing, cough, sore throat

rhinovirus, influenza virus, coronavirus

96
Q

presentation of laryngotracheitis (croup)

A

parainfluenza virus

upper respiratory tract symptoms followed by hoarseness, BARKING COUGH, STRIDOR, and repsiratory distress

STEEPLE SIGN

97
Q

bronchiolitis

A

upper respiratory tract symptoms followed by WHEEZING, cough, respiratory distress.

RSV

98
Q

3 post-processing of pre-RNA or hnRNA

A

methylguanosine cap, poly-A tail, splicing

99
Q

major site of digestion of dietary lipids? absorption.

A

DIGESTION: duodenum.
ABSORPTION: jejunum

100
Q

describe fat absorption

A

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.

101
Q

bile acid reabsoprtion

A

in ileum. enterohepatic circulation

102
Q

how does cholcystectomy affect fat absorption

A

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.

103
Q

what can the stomach absorb

A

water and alcohol.

104
Q

where are fat soluble vitamins absorbed

A

like lipids, in jejuneum

105
Q

what is absorbed in ileum

A

B12 and bile salts

106
Q

what is absorbed in colon

A

fluid and electrolytes

107
Q

howell-jowel bodies

A

nuclear remnants in RBCs. sign of splenectomy / asplenia

108
Q

where do we see spherocytes

A

autosomal dominant hereditary spherocytosis, autoimmune hemolytic anemia, burns, un-fresh blood samples

109
Q

target cells seen in..

A

obstructive liver disease, thalassemia, iron deficiency anemia, asplenism

110
Q

most common cause of sporadic encephalitis. macroscopic? histology?

A

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

111
Q

first week of TB exposure

A

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)

112
Q

describe epitheliod transformation of macrophages

A

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

113
Q

scattered caseous necrosis in TB (GHON FOCI)

A

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

114
Q

B cell response to TB

A

after antigen presenting cell activates T cells, which do both Th1 and Th2 response. immunoglobulins are hardly helpful bc intracellular.