Other Flashcards
perivenous infiltration seen in ___ ___
postinfectious encephalomyelitis
hypodense circles on CT seen in ___ ___
postinfectious encephalomyelitis
charcot-marie-tooth presentation
deformaties
weakness
arylsulfatase A deficiency seen in ___ ___
metachromatic leukodystophy
GBS Tx
IVIG (blocks macrophage receptors)
carbidopa inhibits DOPA ___
decarboxylase
vitamin ___ should be avoided in parkinson patients
B6
myoclonus is common in ___ or ___ failure patients
liver
renal
wing-beating tremor seen in ___ ___
wilson disease
resting tremor seen in ___ ___
parkinson disease
the ___ and ___ are damaged in huntingtons
caudate
putamen
vasogenic edema due to lost ___
BBB
vitamin ___ needed to synthesize GABA
B6
the raphe nucleus is in the ___
pons
___ ___ is lost in minimal change disease
heparan sulfate
___ deposition is seen in RPGN
fibrin
uremic pericarditis is treated by ___
dialysis
DNA primers contain ___
RNA
when does nucleotide excision repair occur in the cell cycle?
G1
when does DNA mismatch repair occur in the cell cycle?
S/G2
actinomycin D MOA
inhibit RNA pol
anti-Sm
SLE
anti-RNP
mixed connective tissue disease
___ modifies gene expression at mRNA level
miRNA
p bodies
sequester mRNA
___ loop contains dihydrouridine
D
3’ end of tRNA ends in ___
CCA
___ blotting is for transcription factors
SW
___ technology used for HIV AB detection
ELISA
___ ___ used to see which genes are on
DNA microarray
all the cyclins
DEA B
ATM vs ATR pathway
double vs single strand breaks
nuclear envelope made of ___
lamin
caudal regression syndrome associated with ___ ___
maternal diabetes
plan B
mifepristone + misoprostol
bloom syndrome is caused by a ___ deficiency
helicase
NHEJ is an issue in ___ ___
ataxia telangectasia
homologous recombination is an issue in ___ ___ and ___ mutations
fanconi anemia
BRCA
how to remember base excision repair
GEL PLease
mismatch repair is defective in ___ syndrome
lynch (HNPCC)
example of missense mutation
sickle cell
what regulates lac operon
(+) cap
(-) repressor
initial RNA transcript called ___
hnRNA
how to remember introns
GU-AG
congenital degeneration of anterior horn is caused by a defect in ___
snRNPs
___ remain in G0 with the permanent tissues
RBCs
germ cells are said to be ___ and never enter G0
labile
where is G-6-phosphatase located?
sER
where does N-glycosylation occur
rER
___ synthesize bile acids and plasmalogens
peroxisomes
adrenoleukodystophy
B oxidation defect
VLCFA buildup
refsum disease
A oxidation defect
phytanic acid buildup
scales, ataxia, epiphyseal dysplasia
zellweger syndrome
defective peroxisome biosynthesis
hypotonia, seizures, craniofacial defects
___ ___ are used to detect SNPs and copy number variants
DNA microarrays
___ is the technology used to screen for HIV infection
ELISA
___ is used to find a certain gene, deletion, or translocation
FISH
if parents don’t have disease, but offspring do, suspect ___ mosaicism
germline
mccune-albright syndrome is an example of ___ mosaicism
somatic
(germline = lethal)
hetero = meiosis ___ error
I
prader-willi presentation
obesity
angelman presentation
seizures
ataxia
laughter
defective Cl ___ in lungs leads to increased ___ and ___ reabsorption
secretion
Na + H2O
lumacaftor
correct misfolding
ivacaftor
opens Cl channels
XLR LSDs
fabry
hunter
how do duchenne patients die
DCM
CTG repeat
cataracts
early balding (toupee)
gonadal atrophy
bilateral vision loss in young adults
leber hereditary optic neuropathy
(complex I of ETC)
fragile X syndrome due to DNA ___
hypermethylation
increased ___ and ___ are specific markers for DS
hCG
inhibin
cri du chat associated with ___ heart defects
VSD
___ acid is a precursor to AA
linoleic
vitamin ___ deficiency causes foamy conjunctiva
A
excess vitamin ___ causes increased ICP
A
B3 synthesis requires ___ and ___
B6 and B2
vitamin ___ is needed for CoA and FA synthase
B5
FOXP3 mutation
IPEX syndrome
AIRE mutation
loss of central tolerance
ALPS is caused by ___ mutations
CD95
excess vitamin ___ causes enterocolitis in neonates
E
tocopherol and tocotrienol are ___ ___ analogs
vitamin E
___ stimulates glycolysis
F-2,6-BP
NAD+ is used in ___ reactions
catabolic
___ deficiency causes diabetes of the young and gestational diabetes
glucokinase
insulin decreases ___ concentrations, ___ protein kinase A, ___ PFK2
cAMP
decreases
increases
garlic breath
arsenic
___ inhibits lipoic acid
arsenic
rotenone inhibits complex ___
1
antimycin inhibits complex ___
3
the -ides inhibit complex ___
4
___ regulates the urea cycle
N-acetylglutamate
heme is from the AA ___
glycine
fat malabsorption
retinitis pigmentosa
spinocerebellar degeneration
abetalipoproteinemia
fallopian tube node drainage
para-aortic
detrusor contraction =
urination
___ ___ remnant may form a hydrocele
tunica vaginalis
tonsils receive blood from what main artery?
facial
palatine tonsils drain to the ___ nodes
jugulodigastric
posterior cricoarytenoid function
abduct
the left recurrent laryngeal nerve hooks around what?
aorta
discoid rash seen in ___
SLE
lupus anticoagulant causes what?
prolonged PTT
anti-dsDNA can be used for what?
monitoring SLE nephropathy
SS is a type ___ HSR
IV
anemia seen in SLE is a type ___ HSR
II
anti-SSA and anti-SSB are anti-___
ribonucleoproteins
anti-SSA/B are associated with neonatal lupus and ___ ___ ___
congenital heart block
AIRE mutation causes ___, ___ ___, and ___ ___
hypoparathyroidism
adrenal insufficiency
recurrent candidiasis
___ contain lactoferrin
neutrophils
anti-B2 glycoprotein associated with ___ ___
antiphospholipid syndrome
___ deficiency can cause false + celiac disease test
IgA
hyper IgE syndrome due to ___ deficiency
Th17
chronic mucocutaneous candidiasis due to what mutation
AIRE
SCID causes (3)
defective IL-2R
ADA deficiency
VDJ recombination defect
___ binds cyclophilin
cyclosporine
the ___ gene confers PBP resistance
mecA
tuberculoid response
Th1
tuberculoid Tx
dapsone + rifampin
lepromatous Tx
dapsone + rifampin + clofazimine
