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98 Cards in this Set

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CREST Syndrome
CREST: Calcinosis, Raynaud's, Esophogeal Dysmotility, Sclerodactyly, Telangiectasias; Anti-centromere Abs; Limited scleroderma -- mostly hands/face, late visceral organ involvement, ~benign course;
Anti-SS Abs
Sjogren Syndrome
None
Essential Amino Acids
PVT TIM HALL (phenylalanine, valine, threonine, tryptophan, isoleucine, methionine, histidine, arginine, leucine, lysine)
Ketogenic Essential AA
Leucine, Lysine
Ketogenic/Glucogenic essential AA
Phenylalanine, Tryptophan, Isoleucine
Glucogenic essential AA
Valine, Threonine, Methionine, Histidine, Arginine
Draw out chart of Lysosomal Storage Disorders
-
Tuberous Sclerosis
Triad of Adenoma Sebaceum, MR, and Seizures (CNS effects from white tubers, benign tumors of astrocytes); hypopigmented "ash leaf spots" on skin
Lisch Nodules
Neurofibromatosis Type I (von Recklinghausen's)
Pompe's Disease
Glycogen storage disease type II; "Trashes the Pump:" heart, liver, skel muscle; deficiency of alpha-glucosidase; only GSD with glycogen found in lysosomes
glycogen in lysosomes
Pompe's Disease (Glycogen Storage disorder type II; alpha-glucosidase deficiency
hypoglycemia and hepatomegaly suggests
glycogen storage disease
nadh in alcoholic
nadh/nad+ ratio increased
genetics of huntingtons (incl chromosome)
CAG repeat, anticipation, chromosome 4
most common trisomy in spontaneous abortion
16
47,XXX
~benign; nl phenotype, nl life span; sometimes MR/menstrual irregularities
homozygous vs heterozygous familial hypercholesterolemia
homozygous has LDL>600; heterozygous LDL > 300?
acetoacetate/beta-hydroxybutyrate ratio in DKA
decreased (i.e. relatively increased beta-hydroxybutyrate)
phenylephrine
alpha-1 agonist
clonidine
alpha-2 agonist
isoproterenol
nonselective beta agonist
phentolamine
nonselective alpha antagonist
genetics of G6PD deficiency
X-Linked recessive
Genetics of Leber's hereditary optic neuropathy
mitochondrial inheritance; acute/subacute vision loss
mitochondrial inherited disorders
Leber's hereditary optic neuropathy; mitochondrial myopathies
x-linked recessive disorders
lesch nyhan, hemophilia, duchenne's muscular dystrophy, G6PD, fabry's, hunter's
None
AD disorders
Ehlers-Danlos, Huntington's, Neurofibromatosis, OI
Genetics of Neurofibromatosis
AD (type I: c17; type II: c22)
Sequelae of Down syndrome (trisomy 21)
ALL, early-onset alzheimers, epilepsy, congenital cardiac disorders, duodenal atresia, male infertility
bilateral acoustic neuromas
neurofibromatosis type II (c22, NF2 gene)
None
APC tumor suppressor location
5q, a/w CRC
Rb tumor suppressor location, defect
13q, retinoblastoma / osteosarcoma
NF-1 tumor suppressor location
17q
p53 tumor suppressor location
17q
rat-bite fever
spirillium minus
mobio tech to diagnose microdeletions
FISH
basal lamina contents
type IV collagen, glycoproteins (incl laminin), and proteoglycans (incl heparan sulfate)
defense mechanism causing enuresis
regression (often after new sibling) -- tx w/ more attention
pharmacological tx for enurisis, mechanism
imipramine, reduces delta sleep
amphetamine vs phencyclidine (PCP)
amphetamine does not produce nystagmus
endotoxin receptor (CD#)
CD14, found on macrophages
southwestern US + septic shock + severe pulm dz
plague (yersinia pestis) -- major sx: lymphadenopathy (bubonic plague) or severe resp distress (pulmonary plague)
Listerosis
during pregnancy: sepsis, abortion, premature deliv; neonate: meningitis; I/C: meningitis, sepsis
Arthus reaction
variant of Type III hypersensitivity; local vasculitis --> tissue necrosis (often skin)
MCC anal condyloma / anal carcinoma
HPV (koilocytes)
most common infarcation in endocarditis septic embolus
multiple, small parietal lobe abscesses
G- sepsis vs. TSS
in G- sepsis, LPS direclty activates CD14 on macrophages; in TSS, TSST-1 (superAg) crosslinks TCR + MHC II --> activation --> cytokines (IFN-gamma, IL-2); both types of shock involve IL-1, TNF-alpha, IL-6
IL-6
pyogenic, acute phase response (kind of like IL-1); secreted by macrophages (also like IL-1)
p24
capsid protein of HIV (produced by _gag_ gene)
serum titers in acute hiv infection
HIV virus, p24, HIV RNA
serum titers months after HIV infection (latent infection)
p24 and env products (gp120) fall, Anti-p24 and Anti-p120 Abs rise, CD4 counts fall
None
serum titers yrs after untreated HIV infection (immunodeficiency stage)
symptomatic; p24 Ab and CD4 counts drop; virus, p24 Ag, and viral RNA become detectable again (~decompensation)
type of hypersensitivity in poison ivy
type IV: cell-mediated response to oil; Ag activaton of T-cells and macrophages --> lymphokines --> tissue injury
tx for RMSF
tetracycline / doxycycline ('Tet Offensive')
uses of tetracycline
Tet Offensive': RMSF, STDs (syphilis), acne, penicillin-allergic patients
Which tetracycline is safest in renal failure?
doxycycline (secreted in feces)
lecithinase
produced by c.perfringens (alpha toxin)
Acute bacterial prostatitis agents
same agents as UTI (EEKS, proteus, pseudomonas, staph)
flagella in prostatitis
allow uropathogens to move against flow of urine --> infect urinary bladder and prostate
uropathogenic e.coli pathogenic factors
pilus adhesions (like pyelonephritis-associated P-pili)
Li-Fraumeni syndrome
mutation in p53 --> greatly inc risk of lots of cancers (breast, colon, soft-tissue sarcomas, osteosarcomas, brain tumors, leukemia, adenocortical carcinoma)
microsatellite instability -- cancer link
normally corrected by mismatch repair; mismatch repair defect a/w CRC from HNPCC and endometrial cancer
cretinism
thyroid hormone deficiency -- MR, pot-belly, puffy face, glossitis
cat-scratch disease
bartonella henselae
Viruses with RNA-Dependent DNA Polymerase (Reverse Transcriptase)
Retroviruses, Hepadenoviruses (HBV)
most common viral cuase of encephalitis
Herpes (95% HSVI; also HSVII, CMV)
UTI Bugs
SSEEK PP (Serratia, Staph Saprophyticus, E.Coli, Enterobacter, Klebsiella, Proteus, Pseudomonas)
E.Coli UTI diagnostic features
leading cause of UTI, metallic sheen on EMB agar
Klebsiella diagnostic features
large mucoid capsule, viscous colonies
Trichomoniasis Dx features
vaginitis, strawberry-colored mucosa, motile on wet prep
Gardnerella vaginitis dx features
malodorous discharge, positive whiff test, clue cells (epithelial cells coated with bacteria)
mcc infection w/ urinary cath
e.coli, proteus
mcc infection newborn nursery
cmv, rsv
mcc infection respiratory equipment
pseudomonas (AIRuginosa when AIR involved)
mcc infec renal dialysis units
HBV
2 MCC nosocomial infection
e.coli (UTI) and s.aureus (wound infection)
name the bug: branching rods in oral infection
actinomyces israelii
Nitroblue tetrazolium test
Positive in nl population; negative in CGD (lack of NADPH)
centripetal vs centrifugal spread of rash
centrifugal, spares face: scarlet fever; centripetal: ricketssia;
imipramine
prototypical TCA, used for enuresis (decreases stage 4 sleep, like benzos)
coccidioides morphology
dimorphic, yeast at body temp, xmit via spore inhalation (fragments of hyphae)
leukocyte adhesion deficiency
lfa-1 (CD18) integrin deficiency --> pyogenic/fungal infections; DELAYED SEPARATION OF UMBILICUS.
chemotaxis
1) rolling by selectins; 2) adhesion by integrins; 3) transmigration
myeloperoxidase deficiency
similar to CGD, but in MPD both cat+ and cat- survive (in CGD, only cat+ organisms cause infection; cat- organsisms make some H2O2 and so are killed by still functional myeloperoxidase)
antibody-mediated hypersensitivity form of graft rejection
can be dx in OR -- anatomosed vessels become cyanotic and mottled --> fibrinoid necrosis; (e.g. ABO or HLA incompatibility)
myeloperoxidase
oxidative burst of phagocytes: converts H2O2 (produced by NADPH oxidase or Catalase (-) bacteria) into free radicals capable of killing bacteria
most common manifestations of botulinism
3 Ds: dysphagia, diplopia, dysphonia (within 1-2 days of consumption)
mycoplasma pathogenicity
suface P1 protein -- allows adhesion to respiratory epithelium (Abs against this cross-react with RBC surface proteins --> cold agglutination)
cause of cat-scratch disease
bartonella henselae (also causes bacillary angiomatosis in I/C --> papular skin lesions)
diseases caused by bartonella henselae
cat-scratch disease (local lymphadenopathy), bacillary angiomatosis in I/C
mech of action of diphtheria toxin
ADP ribosylation (and thus inactivation) of EF-2 (same mechanism as Pseudomonas exotoxin A)
Tx of acute C.diphtheriae infection
1) antitoxin (passive immunity); 2) Abx (penicillin / erythromycin); 3) DPT vax
uses of NADPH
FA/chol biosynthesis, drug metabolism, steroid biosynthesis, oxidative burst (phagocytic activity); (NADPH used for anabolic processes, NAD+ used for catabolic processes)
what dz process? Hypoglycemia after proglonged fasting with inappropriately low ketone levels
beta oxidation (can't metabolize FA), eg Acyl-CoA dehydrogenase
what kind of receptors does thyroid hormone have?
nuclear receptor (like retinoids, PPAR, FA)
what kind of receptors do growth factors have?
tyrosine-kinase (cell surface)
elastin vs collagen
minimal hydroxlation of proline/lysine; no triple helices; lysine cross bridging
what cells can't use ketones for fuel?
erythrocytes