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100 Cards in this Set

  • Front
  • Back
gene for amyloid beta protein found on what chromosome?
chromosome 21
amyloid light chain found in what two diseases
mulitiple myeloma and waldenstrom's macroglobulinemia (aka lymphoplasmacytic lymphoma)
auto AB in CREST?
anti centromere
auto AB in hashimoto's thyroiditis?
anti microsomal (released from ER of destroyed cells)
auto AB in wegener's granulomatosis?
ANCA
auto AB in goodpasture's syndrome?
anti GBM
what type of hypersensitivity is ABO transfusion reactoin?
type II - AB mediated
what type of hypersensitivity is erythroiblastosis fetalis
type II - AB mediated
what type of hypersensitivity is rheumatic fever
type II- AB mediated
what type of hypersensitivity are hemolytic and thrombolytic drug reactions?
type II - Ab mediated
what type of hypersensitivity is goodpasture's syndrome?
type II - Ab mediated
what type of hypersensitivity is drug induced lupus?
type II - AB mediated
what type of hypersensitivity is SLE?
type II - Ab mediated or type III immune complex...wtf
what type of hypersensitivity are autoimmune dzs in general?
type II - Ab mediated
what type of hypersensitivity is arthus rxn
type III - immune complex
what type of hypersensitivity is serum sickness
type III - immune complex
what type of hypersensitivity is post strep glomerulonephritis
type III - immune complex
what type of hypersensitivity is rheumatoid arthritis
type III - immune complex
what type of hypersensitivity is SLE?
type II - Ab mediated or type III immune complex..ahhh
what type of hypersensitivity is acute graft rejection?
type IV - delayed type
what type of hypersensitivity is tuberculoid leprosy
type IV - delayed type
hyperacute graft rejection....MOA? type of hypersensitivity? time to onset?
MOA - preformed Ab bind antigen on tissue
type II hypersensitivity
onset mins to hours
acute graft rejection....MOA? type of hypersensitivity? time to onset
MOA - memory T cells recognize antigen; CD8s destroy graft
type IV (T cell cytotox)
onset days to months
chronic graft rejection....MOA? type of hypersensitivity? time to onset
MOA - AB dvlp over time and damage graft vasculature
type II, III
onset months to years
graft vs host....MOA? type of hypersensitivity? time to onset
MOA - T cells in transplant attack host
type IV - (T cell cytotox)
onset days to weeks
what is adrianna's bra size?
34 D
oncogene in Burkitt's lymphoma?
c myc
antidote for digoxin toxicity
anti Digoxin Fab Antibody
MOA of chloramphenicol
inhibits peptidyl transferase, necessary for protein synth.
MOA of tetracyclines
inhibit tRNA binding and inhibit protein synth
What is the emperical treatment for encephalitis?
acyclovir until its proven its not HSV.
In what 3 ways do penecillins work?
1. bind PBPs to accumulate in periplasmic space
2. Inhibit transpeptidase to inhibit coss links btw peptidoglycan
3. stimulate autolysins - damages cell wall
How are beta lactams excreted?

What are the exceptions?
Pens and Cephs are renally excreted

Except ceftriaxone and nafcillin
which beta lactams cause disulfram rxn
Cefomandole(2), cefoperazone(3), Cefotetan(2)
which cephalosporin crosses the BBB
Cefuroxime
CA- 19 9...tumor marker for?
colon, pancreatic, breast CA
CA 125 ...tumor marker for?
ovarian CA
CD 25....tumor marker for?
hairy cell leukemia
adult T cell leukemia
CD 30 - tumor marker for?
Hodgkin's dz
neuron specific enolase...tumor marker for?
small cell lung CA
neuroblastoma
hyperphosphatemic rickets....describe and inheritance
inherited vitamin D resistance, bowed legs
XLD
incontinentia pigmenti....describe and inheritance
mini teeth and patchy alopecia
XLD
mitochondrial inheritance...how to tell on pedigree?
afflicted mother gives to ALL her kids (boys and girls)
only females pass it on
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
a1 antitrypsin deficiency....mechanism?
a1 antitrypsin normally inhibits ELASTASE
liver makes a1 antitrypsin but can't export, so liver destruction
elastase destroys lungs -- emphysema
glycogen storage dzs - 3 examples and what's the problem
von gierke's dz, pompe's dz, and mcardle dz
inability to utilize glycogen normally
what's the problem in mucopolysaccharidoses?
can't metabolize GAGs - critical component of CT
what are the 3 types of mucopolysaccharidoses and how do we distinguish them clinically
mucoploysaccharidoses are a type of lysosomal storage dz.
types - Hurler, Scheie, Hunter (XLR)
Clinical DDx - varying levels of MR and corneal clouding
what's the problem in sphingolipidoses?
unable to metabolize sphingolipids, molecules typically involved in myelin and CNS
what are the 6 sphingolipidoses which is XLR?
sphingolipidoses are 1 type of lysosomal storage dz
6 types - Niemann Pick, Gaucher;s, Krabbe's, Tay-Sachs, Metachromatic dystrophy, Fabry (XLR)
infant PKD - 2 Sx
kidney cyst, liver cyst
fatal
bronze diabetes?
hemochromatosis - too much iron absorbed in small intestine - deposits in liver, heart, pancreas, skin
4 Sx of hemochromatosis
cirrhosis, cardiomyopathy, bronze skin, new onset type I like diabetes
Clinical features of Chediak Higashi and underlying defect?
Clin - recurrent infections (defective phagocytosis), devlopment of lymphoid cancers, partial albinism, neuropathy
MT defect
bernard soulier dz - problem and clin findings?
lack of GpIB (needed for platelet to bind to VwF)
excessive bleeding
GpIb ...what the hell is this
binds platelets to vWF factor

deficient in bernard soulier (a platelet dz)
glanzmann's thrombasthenia....problem and clinical?
lack of GPIIb IIIa (needed for platelets to bind platelets)
results in excess bleeding
GP IIb IIIa....the hell is this?
needed for platelets to adhere to other platelets

deficient in glanzmann's thrombasthenia
Female presents with pruritis and jaundice
primary biliary cirrhosis
A patient with short stature presents with rash, diarrhea and weight loss

what is this rash called
Celiac sprue -
dermatitis herpetiformis
what is the antibody present in hashimoto's disease
anti- microsomal
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
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
familial hypercholesterolemia...what;s the problem and name 3 Sx
abnormal LDL receptor

high cholesterol
severe atherosclerosis
tendon xanthoma - esp achilles
familial adenomatous polyposis...deletion of what gene on which chromosome?
FAP = deletion of APC gene on chromosome 5

5 letters in polyp = chrom 5
what do FAP and familial hyperchlesterolemia have in common? hint...inheritance
Autsomal dominant
what does vWF do
binds GPIb on platelets and factor VIII in serum
defective receptor in achondroplasia?
FGFR3 fibroblast growth factor receptor

frodo got a free ring
what are the 4 neurocutaneous syndromes...aka phacomatoses
NF 1
NF2
tuberous sclerosis
von hippel Lindau
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
NF 2 aka acoustic neurofibromatosis...Sx and prob>
bilateral schwannomas, multiple meningiomas, hearing deficits
prob is loss of NF2 gene on chrom 22
von hippel lindau....high risk of deveoping what
bilateral renal cell carcinoma
what's the cause of Huntington's dz
TRINUCLEOTIDE repeat ...CAG...on chrom 4

hunting 4 food
what are the 4 neurocutaneous syndromes...aka phacomatoses
NF 1
NF2
tuberous sclerosis
von hippel Lindau
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
NF 2 aka acoustic neurofibromatosis...Sx and prob>
bilateral schwannomas, multiple meningiomas, hearing deficits
prob is loss of NF2 gene on chrom 22
von hippel lindau....high risk of deveoping what
bilateral renal cell carcinoma
what's the cause of Huntington's dz
TRINUCLEOTIDE repeat ...CAG...on chrom 4

hunting 4 food
what's the cause of ADPKD
mutated APKD1 gene on chrom 16

16 letters in polycystic kidney
a CGG trinucleotide repeat leads to this disease which has Sx of large ears and jaw, MR, macroorchidism (large balls)
fragile X - XLR

eXtra large balls, jaw, ears
deficient enzyme in fabry dz
decreased alpha galactosidase A
deficient enzyme in lesch nyhan
deficient HGPRT

he's got purine recovery trouble
wiskott aldrich triad
OM, eczema, thrombocytopenia
CGD patients suffer from recurrent infections with what type of organsim
catalase positive
hunter's dz - describe two Sx of an afflicted Pt
Pt is male bc XLR

MR and normal corneas
HLA A3 presdisposes you to what dz
hemochromatosis

a 3 iron (think golf)
HLA b27 predisposes you to what dzs
ankylosing spondylitis, reiter's syndrome, psoriatic arthritis, UC
HLA DR2 predisposes you to what dzs
narcolepsy
MS
DM I
HLA DR3 predisposes you to what dzs
SLE, DM I, celiac dz
HLA DR4, Dw$, Dw14 predispose you to what dzs
RA, juvenile RA
most common cause osteomyelitis in IV drug users
serratia and pseudomonas
Pt presents w a cold in fall/winter - most common cause?
rhinovirus

it's the moooost wonderful RHINE of the yeaaar. sorry..had to
Pt presents w cold in spring/summer...most common cause?
adenovirus
clinical triad in scleroderma aka PSS - progressive systemic sclerosis
visceral organ fibrosis, tight shiny face, sclerodactyly
name 3 phagocyte disorders
job's syndrome
chediak higashi syndrome
chronic granulomatous dz
name three B cell disorders
bruton's agammaglobulinemia
IgA deficiency
common variable immunodeficiency
name 3 T cell disorders
DiGeorge
chronic mucocutaneous candidiasis
hyper igM syndrome
name 3 combnied B and T cell disoders
SCIDS
wiskott aldrich
ataxia telangiectasia
name 6 HIV opportunistic infections
oneumocystis pneumonia, toxoplasmosis, CMV retinitis, mycobacterium avium complex, progressive multifocal leukoencephalopathy (PML), cryptococcal meningitis
4rth generation cephalosporins
cause Pseudomonas Insults

cefePIme
cefPIrome