Rapid Review 4 Flashcards
(201 cards)
1
Q
type 1 Crigler-Najjar has *** UGT activity
A
has NO UGT activity
2
Q
type 2 Crigler-Najjar has *** UGT activity
A
has SOME/REDUCED UGT activity
3
Q
how do Gilbert and Crigler-Najjar bilirubin levels compare?
A
Gilbert: only slightly increased (3-6)
CN type 1: highest bili (>20)
CN type 2: intermediate (5-20)
(unconjungated bili)
4
Q
pure red cell aplasia is a paraneoplastic syndrome related to what tumor?
A
thymoma
5
Q
what mutation is associated with AML with maturation?
A
t(6;9) DEK-NUP214
[you have to be ~mature to do 69]
6
Q
what labs favor cholestatic overr hepatocellular jaundice?
A
alk phos >>> transaminases
7
Q
cirrhosis SPEP characteristics
A
beta-gamma bridging & low albumin
8
Q
broadly, which method do you use for hematocrit?
A
conductometry
9
Q
TTP is an auto-Ab to what
A
ADAMTS13
10
Q
what blood product should you use in TTP?
A
cryo-poor plasma
11
Q
why should you use ~this blood product~ in TTP?
A
cryo-poor plasma
bc it has ADAMTS13 (vWF-cleaving metalloprotease)
12
Q
which worm is a/w megaloblastic anemia?
A
diphyllobothrium latum
13
Q
CD markers in
T-ALL vs ATLL
A
T-ALL: CD4+/8+ sCD3-/cCD3+ [4 & 8 double positive makes it TALLer]
ATLL: CD4+/8- CD3+ popcorn cells [eating popcorn 43 times in atlanta]
14
Q
mutation in Langer-Giedion
A
del8q24
15
Q
what level of sweat chloride is suggestive of cystic fibrosis?
A
>60 mmol/L
16
Q
mutation in Wilson disease
A
ATP7B
17
Q
what is the gold standard for diagnosing Wilson disease?
A
elevated hepatic copper
18
Q
are these low or high in Wilson disease?
ceruloplasmin
urinary copper excretion
A
LOW ceruloplasmin (can appear normal d/t inflammatory states [APR]) HIGH urinary copper excretion
19
Q
what pathway does Cowden syndrome impact?
A
mTOR pathway (PTEN in 85%, PIK3CA, AKT1)
20
Q
inheritance of Cowden syndrome
A
auto DOMINANT
21
Q
inheritance of Peutz-Jeghers syndrome
A
auto DOMINANT
22
Q
mutation in Hartnup disease
A
SLC6A19
auto recessive
23
Q
what’s the specific weird lab value in Hartnup?
A
increased urinary tryptophan
24
Q
what is the problem in PKU/phenylkaptonuria?
A
phenylalanine hydroxylase deficiency
auto recessive mut in PAH gene on chrom 12
25
what is the problem in benign hyperphenylalaninemia?
deficiency of pterin-4a-carbinolamine dehydratase (altered BH4 cofactor)
26
what is the inheritance of ornithine transcarbamylase deficiency?
x-linked recessive
(complete or partial lack of ornithine transcarbamylase)
[urea cycle]
27
what is the problem in maple syrup urine disease?
BCKD deficiency: branched chain keto acid dehydrogenase
genes: BCKDHA, BCKDHB, DBT
auto recessive
28
what amino acids does BCKD break down?
leucine
isoleucine
valine
(LIV)
29
what is the deficiency in tyrosinemia type I?
fumarylacetoacetate hydrolase (FAH) deficiency
last step in tyrosine breakdown
30
what is the inheritance of tyrosinemia type I?
auto recessive
31
how do you diagnose tyrosinemia type I?
elevated succinylacetone in urine
32
what malignancy is tyrosinemia type I a/w?
HCC
33
what is the disease with "sweaty feet" odor?
isovaleric acidemia :(
34
what is the problem in isovaleric acidemia?
isovaleryl-CoA dehydrogenase deficiency
35
what is the disease with "boiled cabbage" odor + fetid breath?
hypermethioninemia
36
what is the issue in hypermethioninemia?
methionine adenosyltransferase deficiency (buildup of methionine \> demyelination)
37
what is the disease that is aka fish-odor disease?
trimethylaminuria
38
what is the issue in trimethylaminuria/fish odor disease?
mutations in flavin monooxygenase 3 (FMO3) gene
buildup of trimethylamine
aka fish odor disease
Fish odor - Flavin monooxygenase
39
what is the mutation in hyperhomocysteinemia?
C677T mut in MTHFR [methylene tetrahydrofolate reductase]
40
which inborn error of metabolism is a/w an increased risk of thrombotic disorders?
hyperhomocysteinemia \> elevated homocysteine causes endothelial cell toxicity and disrupted vascular hemostatic mechanisms
41
what are the 3 peroxisome biogenesis disorders, in order of severity?
least bad: Refsum disease (PHYH mut)
middle bad: neonatal adrenoleukodystrophy (ABCD1 mut)
worst: Zellweger syndrome (PEX mut)
42
which peroxisome biogenesis disorder can be treated with diet?
Refsum disesase
43
which peroxisome biogenesis disorder is a/w Leydig cell damage?
neonatal adrenoleukodystrophy
44
what is like, the core issue in peroxisome biogenesis disorders?
buildup of very long chain fatty acids (Refsum is phytanic acid specifically)
45
what is the mode of inheritance of the glycogen storage diseases?
all are auto recessive EXCEPT
TYPE IXa
46
what's the eponym
type I GSD
von Gierke's
47
what's the deficiency
type I GSD
G6PC mut \> glucose-6-phosphatase deficiency
48
what will TTP look like on a vWF gel?
increased high-molecular-weight multimers
49
vWD 2M
decreased ability of vWF to bind to GPIb receptor on plt (this is the opposite of 2B)
normal multimers on gel
50
vWD 2N
mutated vWF-factor VIII binding site \> vWF can't protect factor VIII from degradation (increased factor VIII clearance) \> factor VIII levels fall
normal multimers on gel
51
vWD 2A
small, less active vWF bc large multimers can't assemble
No HMWM or IMWM
only has LMWM on gel
52
vWD 2B
increased affinity of vWF for plt GPIb/V/IX (on plt) \> rapid vWF clearance & low plts (this is the opposite of 2M)
No HMWM
Has IMWM and LMWM on gel
53
vWD type 3
NO vWF!
gel has an empty lane
54
which von willebrand disease types are quantitative?
type 1 and type 3
55
which von willebrand disease types are qualitative?
type 2A, 2B, 2M, 2N
56
which vWD can you NOT give DDAVP to?
type 2B
2B has increased affinity btwn vWF and GPIb \> so you'll just keep using up all your plts and **_worsen thrombocytopenia_**
57
what makes vWF?
endothelial cells & megakaryocytes
58
where is vWF stored?
endothelial cell: Weibel-Palade bodies
plts: alpha granules
59
3 normal functions of vWF
1. bind to _collagen_ + plt **GPIb/V/IX** complex \> plt adhesion
2. bind to plt **GPIIb/IIIa** \> increased plt aggregation
3. bind to **FVIII** \> prolong half-life of FVIII
60
what is the gold standard for measuring vWF activity?
vWF:RCo
asks "how well does vWF agglutinate plts in response to ristocetin?"
61
what does vWF:Ag test?
measures _amount of vWF_ present, via LIA or ELISA
62
what should you suspect if vWF activity (vWF:RCo) is decreased out of proportion to the decrease in vWF:Ag?
so RCo/Ag \<0.5-0.7
type 2 vWD (esp 2A, 2B, 2M)
63
which vWD are auto recessive?
2N and 3
64
which vWD are auto DOMINANT?
1, 2A, 2B, 2M
65
what chromosome is the vWF gene on?
chromosome 12
66
what should you be thinking of if they give you a child with an abdominal mass and like, flow?
Burkitt
\*\*\*multiple nucleoli, vacuolated cytoplasm\*\*\*
CD19/20+, but also **CD10+**!!!
67
which glycogen storage disease is the most common one?
type I: von Gierke's
68
which glycogen storage disease is the most severe?
type II: Pompe's
69
what's the eponym for type II glycogen storage disease?
Pompe's
| (pompeii has 2 ii's)
70
what is the defect in Pompe's?
alpha-1,4 glucosidase deficiency
aka
acid maltase deficiency
71
what's the eponym for type III glycogen storage disease?
Cori's/Forbes
72
what's the defect in Cori's/Forbes?
debranching enzyme deficiency
AGL mutation
(ABCD: andersen's branching cori debranching)
73
what's the eponym for type IV glycogen storage disease?
Andersen's
74
what's the defect in Andersen's?
branching enzyme deficiency
(ABCD: andersen branching, cori debranching)
GBEI mutation
75
what is the eponym for type V glycogen storage disease?
McArdle's
| (ardle has 5 letters)
76
what's the defect in McArdle's?
muscle phosphorylase deficiency
| (think of the IHC duh)
77
what's the eponym for type VI glycogen storage disease?
Hers'
78
what's the defect in Hers' dz?
liver phosphorylase deficiency
PHKA2 mutation
79
what's the eponym for type VII glycogen storage disease?
Tarui/Tauri
80
what's the defect in Tarui's?
muscle phosphofructokinase (pfk)
(causes deficiency of M subunit \> myocytes & rbcs can't use carbs for energy)
81
what's the defect in type VIII glycogen storage disease?
hepatic phosphorylase kinase deficiency
82
what's the eponym for type VIII glycogen storage disease?
there isn't one, lololol
83
what's the eponym for type IX glycogen storage disease?
there isn't one AGAIN
84
what's the defect in type IX glycogen storage disease?
deficiency of phosphorylase b kinase
alpha subunit: PHKA1 (muscle) and 2 (liver)
beta subunit: PHKB (muscle & liver)
gamma subunit: PHKG2 (liver)
i have no idea if i need to know this
85
what's the defect in type XI glycogen storage disease?
absent GLUT2 transporter
86
what's the eponym for type XI glycogen storage disease?
fanconi-bickel
87
which glycogen storage disease is inherited in an autosomal recessive fashion?
PHKA1 & 2: **x-linked recessive**
PHKB & G2: _auto_ recessive (like the rest of the GSDs)
88
which GSD has heart failure and death within 2 years?
type II: Pompe's
89
which GSD has liver cirrhosis & death within 5 years?
type IV: andersen's
90
which GSD has exercise-induced rhabdomyolysis & renal failure 2/2 myoglobinuria?
type V: McArdle's
91
which steps of heme synthesis happen in the mitochondria?
First step (ALAS)
Last 3 steps (CPO, PPO, FECH)
92
which steps of heme synthesis happen in the cytosol?
ALAD
PBGD
URO3S
UROD
(steps 2-5)
93
order of heme synthesis enzymes
1. ALAS
2. ALAD
3. PBGD
4. URO3S
5. UROD
6. CPO
7. PPO
8. FECH
94
disease name & inheritance
aminolevulinic acid dehydratase (ALAD) deficiency
ALAD porphyria
95
disease name & inheritance
porphobilinogen deaminase deficiency
acute intermittent porphyria (AIP)
auto DOMINANT
96
what cofactor does ALAS need?
vitamin B6 (pyridoxine)
97
which forms of ALAS control hgb synthesis and where?
ALAS2: bone marrow
ALAS1: hepatocytes
feedback inhibition: heme blocks ALAS from entering mt
98
what is ALAD extremely sensitive to?
LEAD
| (this also inhibits FECH)
99
how do you die of lead poisoning?
CNS damage
(it is NOT buildup of ALA d/t ALAD inactivation)
100
what is the most common porphyria?
acute intermittent porphyria
| (PBGD def)
101
what's another name for PBGD (porphobilinogen deaminase)?
hydroxymethylbilane synthase
| (this step forms hydroxymethylbilane)
102
if you suspect AIP, what should your first test be?
urinary porphobilinogen
and then? total porphyrin testing
103
what is a normal level of porphobilinogen excretion?
\<4 mg/day
104
disease name & inheritance
uroporphyrin III synthase (URO3S) deficiency
congenital erythropoietic porphyria (no proto)
auto recessive
105
disease name & inheritance
uroporphyrinogen decarboxylase (UROD) deficiency
porphyria cutanea tarda
80% acquired, 20% inherited auto DOM
106
disease name & inheritance
coproporphyrinogen oxidase deficiency
hereditary coproporphyria
auto DOMINANT
107
disease name & inheritance
protoporphyrinogen oxidase deficiency
variegate porphyria
autosomal DOMINANT
108
disease name & inheritance
ferrochelatase (FECH) deficiency
erythropoietic **_proto_**porphyria
auto DOMINANT with _poor penetrance_
109
where does most transferrin come from?
99% comes from the digestion of old RBCs!
110
which porphyrias are the erythropoietic ones?
they have erythro in the names
erythropoietic protoporphyria (FECH)
congenital erythropoietic porphyria (URO3S)
(the rest are hepatic)
111
which porphyrias are autosomal recessive?
ALAD porphyria (ALAD)
congenital erythropoietic porphyria (URO3S)
112
which porphyrias result in photosensitivity & why?
def in UROD, CPO, PPO, or FECH
[anything after URO3S]
d/t buildup of tetrapyrrole rings
113
which photosensitive porphyrias are delayed & which are immediate & why?
delayed: uro & copro buildup: UROD & CPO def
immediate: proto buildup: PPO & FECH def
114
which porphyrias are acute?
AIP (PBGD)
variegate (PPO)
coproporphyria (CPO)
ALAD def
115
which porphyrias are non-acute?
congenital erythropoietic porphyria (URO3S)
cutanea tarda (UROD)
erythropoietic protoporphyria (FECH)
116
which aspergillus spp are uniseriate?
fumigatus
117
which aspergillus spp are biseriate?
niger
terreus
flavus
118
which aspergillus species have circumferential phialides?
flavus & niger
119
which aspergillus species have NON circumferential phialides?
fumigatus (single layer)
terreus (double layer)
120
what fluid should you use for EBV dx?
SALIVA
121
what thyroid neoplasm is a/w amyloid?
medullary thyroid cancer
122
what tumor marker should you use to monitor medullary thyroid cancer?
calcitonin
123
WBC count for adequate leukoreduction in a whole blood unit
fewer than 8.3 x 105
124
explain the dilute Russell viper venom test
1. RVV activates factor X \> Xa
2. RLS: Xa + prothrombin/factor II + factor V + phospholipid \> thrombin
if there's not enough phospholipids (such as in the presence of antiphospholipid antibodies), then it won't be as available for thrombin creation, and clotting time is prolonged
[less phospholipids \> less thrombin \> less clotting \> prolonged clotting time]
125
what syndrome presents with livedo reticularis + multiple embryo losses?
(+/- clots, preeclampsia, placental abruption)
antiphospholipid antibody syndrome (APLAS)
126
how do you test for a lupus anticoagulant?
what is the **principle** screening test?
Staclot-LA test
or
**dRVVT** (this is the principle one)
127
what is Staclot-LA test?
hexagonal phase phospholipid neutralization test
if you have lupus anticoagulant/antiphospholipid antibody in a tube, and you add phosphatidylethanolamine \> prolonged PTT
128
if you have antiphospholipid antibody syndrome (APLAS), then what specific antibodies might you have?
1. lupus anticoagulant
2. anticardiolipin antibody (MOST COMMONLY MEASURED)
3. anti-beta-2-glycoprotein-I
129
what causes epidemic typhus?
Rickettsia prowazekii
130
what causes murine typhus?
Rickettsia typhi
131
what causes sylvatic typhus
Rickettsia prowazekii
132
what transmits Rickettsia prowazekii?
human body louse
flying squirrel ectoparasites
Amblyoma ticks
(so this is like the other Rickettsia)
133
what causes scrub typhus?
orienta tsutsugamushi
134
how is orienta tsutsugamushi transmitted?
mites
135
T/F: ALL viruses are obligate intracellular organisms.
TRUE
ALL OF THEM!
136
what test helps you differentiate between immune & non-immune hemolysis?
DAT
(although sometimes it's abn in non-immune too so idk)
137
is staph saprophyticus resistant or sensitive to novobiacin?
resistant
138
what is the most common chromosomal translocation in childhood ALL?
t(12;21) ETV6-RUNX1
WHICH IS THE SAME FUCKING THING AS
t(12;21) TEL-AML1
139
name the 4 sources of the metabolite morphine in the body
1. codeine
2. heroin
3. morphine
4. poppy seeds
140
what is the name of the unique metabolite to heroin?
6-MAM
141
how long does 6-MAM stay in the urine after herin use?
24 hours
142
what is the metabolite of methadone?
EDDP
2-ethylidene-1,5-dimethyl-3,3-diphenylpyrrolidine
143
what drugs can cause a false positive on methadone specific immunoassays?
verapamil
quetiapine
diphenhydramine
doxylamine
144
what is the deficiency in hyperhomocysteinemia?
cystathionine-β-synthase
145
long-term immunity in Hep B
anti HBs
146
acute stage Hep B
HBsAg & HBeAg
147
"core window" period of Hep B
anti HBc total and anti HBc IgM
148
what is the core window period of Hep B exactly?
the 6 months between acute onset and permanent immunity
149
you need 2 things for computer crossmatch, what are they
1. no record of previous detection of an antibody
2. T W O determinants of the patient's ABO group
150
which viruses take ~2 weeks to show viral cytopathic effect?
CMV & RSV
151
which virus has retractile fiber formation
CMV
152
most common genetic abnormality identified in FISH in CLL
del13q
153
there are 3 FISH cytogenetic abnormalities and three additional things that portend poor survival in CLL. what are they?
FISH
1. del17p
2. del11q
3. "complex abnormalities"
Unmutated immunoglobulin heavy chain variable gene (IgHCV gene)
ZAP-70 expression (\>20%)
CD38 expression (\>30%)
\*\*\*please note that _the most common cytogenetic abnormality in CLL, del13q, is **NOT** included in this list._
154
rearrangements involving what chromosome/gene are usually found in ALCL?
chromsome 2: ALK gene
classic translocation is t(2;5) ALK-NPM
155
what test do you use to monitor therapy in a patient being treated for TTP?
platelet count, keep it simple
156
screening test for lupus anticoagulant
LA sensitive aPTT
colloidal silica clotting time
kaolin clotting time
dRVVT
157
which heme malignancy is a/w basophilia?
CML
158
whose egg is this
diphylidium caninum
159
what's this
diphylidium caninum proglottid
160
3 ways you can tell mycobacterium bovis apart from tuberculosis
1. tuberculosis reduces nitrate very strongly, bovis does not
2. tuberculosis is positive for niacin accumulation, bovis does not
3. tuberculosis will grow on thiophene-2-carboxylic hydrazine (TCH) medium, bovis does not
161
what peripheral blood finding should clue you in to hairy cell?
monocytopenia
162
specific marker for hairy cell
annexin A1
(TRAP, CD103, CD11c, CD25 also all positive)
163
how does hairy cell look/infiltrate in bone marrow?
nodular
164
_how_ does ascorbic acid interfere with UA results?
most of the UA strip tests are oxidating rxns, and vitamin C is an antioxidant, so it quenches the rxns
165
what vitamin is ascorbic acid?
vitamin C
166
what rxns does ascorbic acid interfere with on a UA?
blood
urobilinogen
bilirubin
glucose
nitrite
leukocyte esterase
167
what's this?
morulae of anaplasma/ehrlichia
168
what's this?
Rickettsia rickettsii
169
what cells does Rickettsia _infect_?
vascular endothelial cells
170
reference standard for RMSF diagnosis
IFA assay
171
what bug is implicated in trench fever?
bartonella/rochalimaea Quintana
172
what transmits bartonella/rochalimaea quintana?
human body louse
173
what stain can you use to dx bartonella?
warthin-starry
174
algorithm for fatty acid oxidation disorder suspicion
1. screen blood & bile for acylcarnitine analysis
2. frozen sections of liver \> ORO, metabolic profile, carnitine studies
3. fibroblast culture of skin \> in vitro enzyme and molecular studies
175
pseudocholinesterase deficiency \> delayed metabolism of what drug?
succinylcholine
176
what is the most likely antibody implicated in an ABO mismatch HDFN case?
probably anti-A,B antibodies bc they are IgG and they can cross the placenta
177
what is the first line treatment for a patient with ITP and a plt count under 30?
steroids, long course
IVIg
IV RhIg in Rh+ patients
178
which lymphoma has a universally extremely high Ki that usually exceeds 95%?
Burkitt
179
DLBCL: good prognosis
CD10 & Bcl-6 positive
these suggest **germinal center origin** which **is better** than activated B-cell subtype
180
most common cytogenetic abnormality in DLBCL
most common translocation involves 3q27 (Bcl-6)
181
Assign +/- for CD10, MUM1, and Bcl6 for
DLBCL, ABC
DLBCL, GC
ABC: CD10 neg, MUM1 positive
GC: CD10 or Bcl-6 positive, MUM1 negative
182
Brucella is a gram-negative coccobacillus that is positive for 4 biochemical reactions. what are they?
1. urease
2. nitrate reduction
3. oxidase
4. catalase
183
Brucella and Bordetella are both urease & oxidase positive. How do you tell them apart?
Bordetella WILL grow on MacConkey
Brucella will NOT grow on MacConkey
184
what's this
brucella mellitensis
185
best method for measuring antithrombin **activity**
chromogenic amidolytic
186
best method for measuring antithrombin antigen **levels**
ELISA
immunodiffusion
latex particle immunoturbidimetric
187
Type I AT deficiency and Type II AT deficiency
which is qual & which is quant?
Type I: quantitative antithrombin defect
Type II: qualitative antithrombin defect
188
Type I AT deficiency and Type II AT deficiency
antigen assay & functional assay
low/high/normal in each?
type I (quant): Ag assay low, functional assay low [bc you have so little of it that you have less activity]
type II (qual): Ag assay normal, functional assay low
189
assign each of these to a disorder
1. smooth - SLE
2. **_c_**entromeric (aka speckled) - **_C_**REST/scleroderma
3. peripheral - SLE
4. **_n_**ucleolar - Sjogre**_n_**'s
190
marginal zone B-cells, mantle zone B-cells, and paracortical _T-cells_ are all *positive* for X
whereas **germinal center B-cells** are *negative* for X but *positive* for Y
X = Bcl-2
Y = Bcl-6
191
simplified
CD10+ lymphoma
follicular or DLBCL
192
simplified
CD10-/5+ lymphoma
SLL or mantle cell
193
simplified
CD10-/5+/23+
CLL/SLL
194
simplified
CD10-/5+/23-
mantle cell
195
simplified
CD10-/5-
MZL (MALT) or LPL
196
simplified
CD15+/30+ lymphoma
Hodgkin
197
which Ig antibodies can cause intra and extravascular hemolysis?
IgM = intra (multivalent)
IgG = extra (two Fab sites)
198
how does EBV get into a cell?
CD21
199
giant platelets should make you think of THESE entities (there are 4)
acquired: MDS
inherited: Bernard-Soulier, May-Hegglin, familial macrothrombocytopenia
200
what is the enzyme that transports most (~95%) of the copper from the GI tract to peripheral tissues?
ceruloplasmin
201
