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