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100 Cards in this Set
- Front
- Back
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gene for amyloid beta protein found on what chromosome?
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chromosome 21
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amyloid light chain found in what two diseases
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mulitiple myeloma and waldenstrom's macroglobulinemia (aka lymphoplasmacytic lymphoma)
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auto AB in CREST?
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anti centromere
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auto AB in hashimoto's thyroiditis?
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anti microsomal (released from ER of destroyed cells)
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auto AB in wegener's granulomatosis?
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ANCA
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auto AB in goodpasture's syndrome?
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anti GBM
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what type of hypersensitivity is ABO transfusion reactoin?
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type II - AB mediated
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what type of hypersensitivity is erythroiblastosis fetalis
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type II - AB mediated
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what type of hypersensitivity is rheumatic fever
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type II- AB mediated
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what type of hypersensitivity are hemolytic and thrombolytic drug reactions?
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type II - Ab mediated
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what type of hypersensitivity is goodpasture's syndrome?
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type II - Ab mediated
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what type of hypersensitivity is drug induced lupus?
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type II - AB mediated
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what type of hypersensitivity is SLE?
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type II - Ab mediated or type III immune complex...wtf
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what type of hypersensitivity are autoimmune dzs in general?
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type II - Ab mediated
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what type of hypersensitivity is arthus rxn
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type III - immune complex
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what type of hypersensitivity is serum sickness
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type III - immune complex
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what type of hypersensitivity is post strep glomerulonephritis
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type III - immune complex
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what type of hypersensitivity is rheumatoid arthritis
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type III - immune complex
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what type of hypersensitivity is SLE?
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type II - Ab mediated or type III immune complex..ahhh
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what type of hypersensitivity is acute graft rejection?
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type IV - delayed type
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what type of hypersensitivity is tuberculoid leprosy
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type IV - delayed type
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hyperacute graft rejection....MOA? type of hypersensitivity? time to onset?
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MOA - preformed Ab bind antigen on tissue
type II hypersensitivity onset mins to hours |
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acute graft rejection....MOA? type of hypersensitivity? time to onset
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MOA - memory T cells recognize antigen; CD8s destroy graft
type IV (T cell cytotox) onset days to months |
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chronic graft rejection....MOA? type of hypersensitivity? time to onset
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MOA - AB dvlp over time and damage graft vasculature
type II, III onset months to years |
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graft vs host....MOA? type of hypersensitivity? time to onset
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MOA - T cells in transplant attack host
type IV - (T cell cytotox) onset days to weeks |
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what is adrianna's bra size?
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34 D
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oncogene in Burkitt's lymphoma?
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c myc
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antidote for digoxin toxicity
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anti Digoxin Fab Antibody
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MOA of chloramphenicol
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inhibits peptidyl transferase, necessary for protein synth.
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MOA of tetracyclines
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inhibit tRNA binding and inhibit protein synth
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What is the emperical treatment for encephalitis?
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acyclovir until its proven its not HSV.
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In what 3 ways do penecillins work?
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1. bind PBPs to accumulate in periplasmic space
2. Inhibit transpeptidase to inhibit coss links btw peptidoglycan 3. stimulate autolysins - damages cell wall |
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How are beta lactams excreted?
What are the exceptions? |
Pens and Cephs are renally excreted
Except ceftriaxone and nafcillin |
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which beta lactams cause disulfram rxn
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Cefomandole(2), cefoperazone(3), Cefotetan(2)
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which cephalosporin crosses the BBB
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Cefuroxime
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CA- 19 9...tumor marker for?
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colon, pancreatic, breast CA
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CA 125 ...tumor marker for?
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ovarian CA
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CD 25....tumor marker for?
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hairy cell leukemia
adult T cell leukemia |
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CD 30 - tumor marker for?
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Hodgkin's dz
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neuron specific enolase...tumor marker for?
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small cell lung CA
neuroblastoma |
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hyperphosphatemic rickets....describe and inheritance
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inherited vitamin D resistance, bowed legs
XLD |
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incontinentia pigmenti....describe and inheritance
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mini teeth and patchy alopecia
XLD |
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mitochondrial inheritance...how to tell on pedigree?
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afflicted mother gives to ALL her kids (boys and girls)
only females pass it on |
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phenylketonuria....mechanism and two clinical Sx
also what inheritance? |
phenylketonuria results from an INABILITY to METABOLIZE phenylalanine....leading to inability to make melanin, NE, and D2.
Sx - neurotox and lighter complexion |
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a1 antitrypsin deficiency....mechanism?
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a1 antitrypsin normally inhibits ELASTASE
liver makes a1 antitrypsin but can't export, so liver destruction elastase destroys lungs -- emphysema |
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glycogen storage dzs - 3 examples and what's the problem
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von gierke's dz, pompe's dz, and mcardle dz
inability to utilize glycogen normally |
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what's the problem in mucopolysaccharidoses?
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can't metabolize GAGs - critical component of CT
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what are the 3 types of mucopolysaccharidoses and how do we distinguish them clinically
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mucoploysaccharidoses are a type of lysosomal storage dz.
types - Hurler, Scheie, Hunter (XLR) Clinical DDx - varying levels of MR and corneal clouding |
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what's the problem in sphingolipidoses?
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unable to metabolize sphingolipids, molecules typically involved in myelin and CNS
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what are the 6 sphingolipidoses which is XLR?
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sphingolipidoses are 1 type of lysosomal storage dz
6 types - Niemann Pick, Gaucher;s, Krabbe's, Tay-Sachs, Metachromatic dystrophy, Fabry (XLR) |
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infant PKD - 2 Sx
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kidney cyst, liver cyst
fatal |
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bronze diabetes?
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hemochromatosis - too much iron absorbed in small intestine - deposits in liver, heart, pancreas, skin
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4 Sx of hemochromatosis
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cirrhosis, cardiomyopathy, bronze skin, new onset type I like diabetes
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Clinical features of Chediak Higashi and underlying defect?
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Clin - recurrent infections (defective phagocytosis), devlopment of lymphoid cancers, partial albinism, neuropathy
MT defect |
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bernard soulier dz - problem and clin findings?
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lack of GpIB (needed for platelet to bind to VwF)
excessive bleeding |
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GpIb ...what the hell is this
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binds platelets to vWF factor
deficient in bernard soulier (a platelet dz) |
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glanzmann's thrombasthenia....problem and clinical?
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lack of GPIIb IIIa (needed for platelets to bind platelets)
results in excess bleeding |
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GP IIb IIIa....the hell is this?
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needed for platelets to adhere to other platelets
deficient in glanzmann's thrombasthenia |
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Female presents with pruritis and jaundice
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primary biliary cirrhosis
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A patient with short stature presents with rash, diarrhea and weight loss
what is this rash called |
Celiac sprue -
dermatitis herpetiformis |
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what is the antibody present in hashimoto's disease
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anti- microsomal
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what 4 tissues produce Alkaline phosphatase
how do we use this as a diagnostic tool |
bone - track bone cancers and diagnose non newoplastic bone dz
kidney- track renal cell carcinoma placenta biliary system - diagnose non neoplastic dz of biliary system |
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what 4 tissues produce Alkaline phosphatase
how do we use this as a diagnostic tool |
bone - track bone cancers and diagnose non newoplastic bone dz
kidney- track renal cell carcinoma placenta biliary system - diagnose non neoplastic dz of biliary system |
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familial hypercholesterolemia...what;s the problem and name 3 Sx
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abnormal LDL receptor
high cholesterol severe atherosclerosis tendon xanthoma - esp achilles |
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familial adenomatous polyposis...deletion of what gene on which chromosome?
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FAP = deletion of APC gene on chromosome 5
5 letters in polyp = chrom 5 |
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what do FAP and familial hyperchlesterolemia have in common? hint...inheritance
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Autsomal dominant
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what does vWF do
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binds GPIb on platelets and factor VIII in serum
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defective receptor in achondroplasia?
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FGFR3 fibroblast growth factor receptor
frodo got a free ring |
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what are the 4 neurocutaneous syndromes...aka phacomatoses
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NF 1
NF2 tuberous sclerosis von hippel Lindau |
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NF 1 aka von recklinghausen dz
Sx and what's the problem |
Sx - neurofibromas, optic nerve gliomas, LISCH nodules (pigmented nodules in iris), CAFE AU LAIT spots, axillary freckling
prob is loss NF1 gene on chrom 17 |
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NF 2 aka acoustic neurofibromatosis...Sx and prob>
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bilateral schwannomas, multiple meningiomas, hearing deficits
prob is loss of NF2 gene on chrom 22 |
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von hippel lindau....high risk of deveoping what
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bilateral renal cell carcinoma
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what's the cause of Huntington's dz
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TRINUCLEOTIDE repeat ...CAG...on chrom 4
hunting 4 food |
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what are the 4 neurocutaneous syndromes...aka phacomatoses
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NF 1
NF2 tuberous sclerosis von hippel Lindau |
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NF 1 aka von recklinghausen dz
Sx and what's the problem |
Sx - neurofibromas, optic nerve gliomas, LISCH nodules (pigmented nodules in iris), CAFE AU LAIT spots, axillary freckling
prob is loss NF1 gene on chrom 17 |
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NF 2 aka acoustic neurofibromatosis...Sx and prob>
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bilateral schwannomas, multiple meningiomas, hearing deficits
prob is loss of NF2 gene on chrom 22 |
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von hippel lindau....high risk of deveoping what
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bilateral renal cell carcinoma
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what's the cause of Huntington's dz
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TRINUCLEOTIDE repeat ...CAG...on chrom 4
hunting 4 food |
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what's the cause of ADPKD
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mutated APKD1 gene on chrom 16
16 letters in polycystic kidney |
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a CGG trinucleotide repeat leads to this disease which has Sx of large ears and jaw, MR, macroorchidism (large balls)
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fragile X - XLR
eXtra large balls, jaw, ears |
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deficient enzyme in fabry dz
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decreased alpha galactosidase A
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deficient enzyme in lesch nyhan
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deficient HGPRT
he's got purine recovery trouble |
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wiskott aldrich triad
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OM, eczema, thrombocytopenia
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CGD patients suffer from recurrent infections with what type of organsim
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catalase positive
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hunter's dz - describe two Sx of an afflicted Pt
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Pt is male bc XLR
MR and normal corneas |
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HLA A3 presdisposes you to what dz
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hemochromatosis
a 3 iron (think golf) |
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HLA b27 predisposes you to what dzs
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ankylosing spondylitis, reiter's syndrome, psoriatic arthritis, UC
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HLA DR2 predisposes you to what dzs
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narcolepsy
MS DM I |
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HLA DR3 predisposes you to what dzs
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SLE, DM I, celiac dz
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HLA DR4, Dw$, Dw14 predispose you to what dzs
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RA, juvenile RA
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most common cause osteomyelitis in IV drug users
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serratia and pseudomonas
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Pt presents w a cold in fall/winter - most common cause?
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rhinovirus
it's the moooost wonderful RHINE of the yeaaar. sorry..had to |
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Pt presents w cold in spring/summer...most common cause?
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adenovirus
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clinical triad in scleroderma aka PSS - progressive systemic sclerosis
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visceral organ fibrosis, tight shiny face, sclerodactyly
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name 3 phagocyte disorders
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job's syndrome
chediak higashi syndrome chronic granulomatous dz |
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name three B cell disorders
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bruton's agammaglobulinemia
IgA deficiency common variable immunodeficiency |
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name 3 T cell disorders
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DiGeorge
chronic mucocutaneous candidiasis hyper igM syndrome |
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name 3 combnied B and T cell disoders
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SCIDS
wiskott aldrich ataxia telangiectasia |
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name 6 HIV opportunistic infections
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oneumocystis pneumonia, toxoplasmosis, CMV retinitis, mycobacterium avium complex, progressive multifocal leukoencephalopathy (PML), cryptococcal meningitis
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4rth generation cephalosporins
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cause Pseudomonas Insults
cefePIme cefPIrome |
