Random Flashcards
(314 cards)
1
Q
Irinotecan/topotecan inhibit which topoisomerase?
A
1
2
Q
Etoposide/teniposide inhibit which topoisomerase
A
2 (dna gyrase)
3
Q
Which DNA polymerase degrades the RNA primer in prokaryotes
A
DNA polymerase I
4
Q
what is a nonsense mutation
A
mutation resulting in stop codon (UAG, UAA, UGA)
5
Q
Duchenne MD, Tay-Sachs are what class of genetic mutation
A
Frameshift
6
Q
Xeroderma pigmentosum is a defect in?
A
nucleotide excision repair; pyrimidine dimers caused by UV exposure. Repair should occur in G1 phase
7
Q
What process is defective in Lynch syndrome?
A
Mismatch repair
8
Q
What process is defective in ataxia telangiectasia?
A
nonhomologous end joining
9
Q
Homologous recombination is defective in which two cancer mutations/syndromes
A
BRCA1 (breast/ovarian), and in Fanconi Anemia
10
Q
Capping of 5’end, polyadenylation of 3’ end, splicing out of introns all occurs in?
A
the nucleus
11
Q
capped, tailed, spliced transcript is called?
A
mRNA
12
Q
RNA polymerase I (eukaryotes) makes what type of RNA
A
rRNA; only in nucleolus
13
Q
RNA polymerase II (eukaryotes) makes what types of mRNA
A
mRNA, snRNA
14
Q
RNA polymerase III (eukaryotes) makes what types of RNA?
A
5S rRNA, tRNA
15
Q
alpha-amanitin, from amanita phalloides death cap muschroom, inhibits which eukaryotic RNA polymerase?
A
RNA polymerase II
16
Q
What does the RNA polymerase in prokaryotes make
A
all 3 kinds of RNA
17
Q
Where is the CCA sequence on tRNA and what does it carry?
A
3’ end of tRNA; Can Carry Amino acids
18
Q
T arm of tRNA purpose
A
tethers tRNA molecule to ribosome
19
Q
What does aminoacyl-tRNA synthetase do?
A
charges tRNA w/ an amino acid at the 3’ CCA region
20
Q
What does IF2 do to tRNA?
A
pairs it with the codon on the mRNA
21
Q
How do p53, p21, CDKs, and Rb interact to inhibit the G1S cell cycle progression
A
p53 induces p21, which inhibits CDKs–> hypophosphorylation (activation) of Rb–> inhibition of G1S progression
22
Q
What is the site of synthesis of the N-linked oligosaccharide and secretory (exported) proteins?
A
Rough ER
23
Q
What modifies N-oligosaccharides on asparagine and adds O-oligosaccharides on serine and threonine? Also adds mannose-6-phosphate to proteins for trafficking to lysosomes
A
Golgi
24
Q
I-cell disease is a defect in N-acetylglucosaminyl-1-phosphotransferase, which leads to failure of golgi to phosphorylate mannose residues on glycoproteins, what happens to these proteins?
A
they are secreted extracellulary rather than delivered to lysosomes.
25
Zellweger syndrome is an autosomal recessive disorder of peroxisome biogenesis due to what mutation?
PEX gene
26
Refsum disease is an autosomal recessive disorder of what? What are some findings related to the skin, eyes, and the *fourth fucking toe*?
Alpha-oxidation in peroxisomes—>phytanic acid not metabolized to pristanic acid. Scaly skin, ataxia, cataracts/night blindness, shortening of 4th toe, epiphyseal dysplasia.
27
Adrenoleukodystrophy is an ***X-Linked*** disorder of beta oxidation and subsequent buildup of VLCFAs in adrenal glands, white matter of brain, and testes, due to what mutation?
ABCD1
28
A decreased nasal nitric acid oxide is a positive screening in what two disorders?
VERY low in primary ciliary dyskinesia
| Low in Cystif Fibrosis as well
29
Bone, skin, tendon, dentin, fascia, cornea are what type of collagen?
Type 1; which is decreased in osteogenesis imperfecta
30
Cartilage including hyaline, viteous body, and nucleus pulposus is what type of cartilage
Type 2
31
Type III collagen found in?
Reticulun—skin, blood vessels, granulation tissue
32
The lens/ basement membrane are what type of collagen
Type IV
33
Where does hydroxylation of proline/lysine, which requires Vitamin C, take place? (Collagen synthesis)
Rough ER
34
After glycosylation of pro-a-chain hydroxylysine residues, the triple helix forms due to hydrogen and disulfide bonds. This makes procollagen. A defect in this process results in what disease
Osteogenesis imperfecta; a problem w/ the secondary structure i.e. forming the triple helix
35
Problems w/ cleaving the disulfide rich terminal regions of procollagen into insoluble tropocollagen results in which disease? This occurs in the extracellular space
Ehlers-Danlos syndrome
36
Reinforcement of tropocollagen by covalent lysine-hydroxylysine cross-linkage by copper containing lysyl oxidase to make collagen fibrils results in which two diseases?
Ehlers Danlos, and Menkes disease
37
What disease is characterized by a decreased production of *otherwise normal* type I collagen? This disease can’t BITE
Bones=multiple fractures
I (eye)= blue sclerae
Teeth= dental imperfections
Ear= hearing loss due to abnormal ossicles
Osteogeneis imperfecta
38
What type of Ehlers Danlos is the most common type?
What type is a mutation in type V collagen?
What type is a mutation in type III procollagen?
Hypermobility type most common
Classical type is type V collagen
Vascular type is type III collagen
39
Brittle, kinky hair, growth retardation, hypotonia, ATP7A mutation
Menkes disease
40
FBN1 mutation on chromosome 15
Marfan
41
What do you use PCR for
Amplify a desired fragment of DNA*
42
What is the reverse transcriptase PCR?
Detects and quantifies mRNA levels using reverese transcriptase to create a complementary DNA template that is amplified via standard PCR procedure
43
SNoW DRoP for blotting procedures
```
Southern= DNA
Northern= RNA
Western= Protein
```
44
Why is the right lower quadrant empty in flow cytometry
All CD8 expressing cells also express CD3
45
a1-antitrypsin has MM normal, MS, SS, MZ, SZ, ZZ in order of increasing severity of lost AAT production. What genetic term is this a good example of
Codominance; both alleles contribute to phenotype
46
Loss of heterozygosity
If a patient inherits or develops a mutation in tumor suppressor gene, the complementary allele must be deleted/mutated before cancer develops. i.e. retinoblastoma, lynch syndrome (HNPCC), Li-Faumeni (germline tp53 mutation)
47
Pleiotropy
One gene contributes to multiple phenotypic effects such as PKU has light skin, mental retardation, musty body odor
48
Dominant negative
A heterozygote produces a nonfunctional altered protein that alsoprevents the normal gene product from functioning
49
Unilateral cafe au lait, polyostotic fibrous dysplasia (bone replaced by collagen and fibroblasts) and at least one endocrinopathy (eg precocious puberty) due to somatic activating mutation of the Gs protein GNAS
Mccune albright syndrome
50
Somatic mosaicism is a mutation that happens before or after fertilization?
After fertilization
51
Mutations at different loci produce similar phenotype?
| Mutations in the same loci produce similar phenotype?
Locus heterogeneity is mutations at different loci
| Allelic heterogeneity is different mutations in same locus
52
Presence of both normal and mutated mtDNA resulting in variable expression in mitochondrially inherited disease
Heteroplasmy
53
What are the equations for Hardy-Weinberg
p^2 + 2pq + q^2 =1
p + q = 1
p^2 is the frequency of homozygosity for allele A
q^2 is frequency of homozygosity for allele a
2pq is frequency of heterozygosity (carrier frequency if it is an autosomal recessive disease)
*The frequency of an X-linked recessive disease in males is q and in females it is q^2
54
Hypophasphatemic rickets, fragile X, alport syndrome all have what type of inheritance pattern
X-linked DOMINANT
55
Mothers transmit to 50% of daughters and sons; fathers transmit to all daughters but no sons?
X-linked Dominant
56
Secretes Cl- in lungs and Gi tract but reabsorbs Cl- in sweat glands
CFTR, normal
57
What agent used to induce sweat for CFTR mutation testing
Pilocarpine
58
What fluid balance status is most likely to present w/ a cystic fibrosis patient?
Contraction alkalosis and hypokalemia: ecf effects analogous to a patient taking a loop diuretic because of ECF H20/Na losses via sweating and concomitant renal K/H wasting
59
What is the newborn screening for CF?
Increased immunoreactive trypsinogen
60
Reticulonodular pattern on cxr
Bronchiectasis
61
What is lumacaftor and what is its MOA
CFTR phe508 deletion drug that corrects misfolded proteins and improves their transport to cell surface
62
What is ivacaftor and what is its moa
CFTR Phe508 deletion that opens Cl- channels and improves chlroide transport
63
What is an X-linked disorder due to a frameshift deletion that causes a truncated or absent dystrophin protein
Duchenne. Dystrophin protein helps anchor muscle fibers by connecting intracellular cytoskeleton (actin) to the transmembrane proteins alpha and beta dystroglycan, which are connected to the ECM. Loss of dystrophin causes myonecrosis
64
What lab values are up in a Duchenne MD patient
CK and aldolase
65
MCCOD in duchenne muscular dystrophy
Dilated cardiomyopahty
66
X-linked disorder due to NON-frameshift deletion resulting in partially functioning dystrophin protein
Becker
67
CTG expansion in DMPK leads to an abnormal expression of myotonin protein kinase. Which disease and what are the effects seen
Myotonic type 1 muscular dystrophy. Cataracts, Toupee, Gonadal atrophy
68
MECP2 de novo mutation on X chromosome with stereotyped hand-wringing, ataxia, failure to thrive
Rett syndrome
69
CGG expansion that occurs during oogenesis in the FMR1 gene, resulting in hypermethylation and decreased expression. X-linked DOMINANT disorder
Fragile X
70
GAA repeat
Friedreich ataxia
71
CAG repeat
Huntington. Caudate has decreased ACh and GABA
72
Increased hCG and inhibin
Down syndrome
73
Trisomy 13
Patau
74
Trisomy 18
Edward
75
In 1st trimester screening, B-hCG, and PAPP-A are decreased in trisomy 13,18, and 21 except for which exception?
beta-hcg of trisomy 21 is increased in first trimester screening
76
In 2nd trimester, what is findings for b-hcg, inhibin a, estriol, and AFP for trisomy 21
B-hcg and inhibin a are increased, estriol and afp are decreased
77
What are the 2nd trimester screening results for trisomies 18, 13 in regards to b-hcg, inhibin a, estriol, and AFP?
In trisomy 18 they are all down, except inhibin A might be normal
In trisomy 13 everything is unchanged
78
Elfin facies, hypercalcemia, supravalvular aortic stenosis
Williams syndrome: long arm of chr 7 deletion, deleted region includes elastin
79
What vitamin is used to treat measles and APL?
Vitamin a
80
High output cardiac failure due to thiamine deficiency
Wet beriberi (dilated cardiomyopathy)
81
What activity will increase once thiamine is given to a thiamine deficient patient?
Diagnosis is made by increased RBC transketolase activity after B1 administration
82
Corneal vascularization, Cheilosis
B2 (riboflavin) deficiency
83
B3 (niacin) is a derivative of ?
Tryptophan
84
The facial flushing produced by excess niacin is not induced by histamines but by? How can this be avoided?
Induced by prostaglandins, NOT histamine. Take the shit with aspirin to prevent
85
B vitamin needed for transamination decarboxylation reactions, synthesis of heme, and neurotransmitters
B6
86
When do you give someone folate before and during pregnancy
1 month before and for the entire 9 months
87
What is an ancillary treatment for methemoglobinemia
Vitamin C, works by reducing Fe3 to Fe2
| Main treatment is methylene blue
88
An excess of which vitamin can make iron toxicity worse in predisposed patients
Vitamin C because it increases dietary iron absorption
89
Tocopherol and tocotrienol
Vitamin e
90
Dysgeuisia (taste distortion), anosmia, acrodermatitis enteropathica
Zinc deficiency
91
Marasmus
Malnutrition due to caloric deficit, not protein like in Kwashiokor.
92
Severe galactosemia enzyme
Galactose-1-phosphate uridyltransferase
93
Galactose-1-phosphate to Glucose-1-phosphate
Galactose-1-phosphate uridyltransferase
94
Essential fructosuria enzyme
Fructokinase
95
Fructose intolerance enzyme
Aldolase B
96
In a state of low blood sugar, which one is working: hexokinase of glucokinase
Hexokinase working because there is not a bunch of Glucose-6-phosphate inhibiting it
97
What is the on/off switch for glycolysis? When it is increased how does it affect glycolysis? Decreased?
Fructose 2,6 Bisphosphate
| When it is increased glycolysis is on, when it is low no glycolysis and gluconeogenesis is turned on
98
Neurologic defects, lactic acidosis, increased serum alanine starting in infancy; but NO hypoglycemia
pyruvate dehydrogenase complex deficiency. Tx w/ increased intake of ketogenic nutrients
99
Rotenone inhibits whic ETC complex
Complex I
100
Antimycin A inhibits which ETC complex
Complex 3
101
Cyanide, Carbon monoxide, azide (the -ides) inhibit which ETC complex
IV
102
Oligomycin directly inhibits mitochondrial ATP synthase in which complex
Complex V
103
2,4-Dinitrophenol and aspirin have what effect on ETC?
Uncoupling agents, produce heat.
104
What enzyme steps in when there is a defect in fructokinase leading to essential fructosuria
Hexokinase
105
When fructose-1-phosphate accumulates in the hereditary deficiency of aldolase B (hereditary fructose intolerance), what is causing the inhibition of glycogenolysis and gluconeogensis?
Buildup of F1P decreases available phosphate
106
The absence of galactose-1-phosphate uridyltransferase in classic galactosemia patients causes failure to thrive, hepatomegaly, infantile cataracts and an increased risk for sepsis due to what organism?
E.coli
107
What tissues have only aldose reductase and not sorbitol dehydrogenase and are more likely to get osmotic damage? (LuRKS)
Lens has primarily aldose reductase.
| Retina, Kidneys, Schwann cells have ONLY aldose reductase
108
Primary lactase deficiency is due to
Absence of lactase-persistent allele
| Stool has decreased pH in lactase deficiency. But biopsy reveals normal mucosa
109
N-acetylglutamate is an allosteric activator of the urea cycle enzyme that is in the mitochondria. What is this enzyme
Carbamoyl phosphate synthetase 1 (ONE*)
| Converts CO2 and NH3 into carbamoyl phosphate
110
X-linked recessive disorder where excess carbamoyl phosphate is converted to orotic acid (part of the pyrimidine pathway)
OTC deficiency. Will see increased orotic acid in blood and urine, decreased BUN, and SYMPTOMS OF HYPERAMMONEMIA
111
What amino acid does Heme start from
Glycine
112
Niacin, Serotonin, Melatonin all come from?
Tryptophan
113
Tyrosine, DOPA, Dopamine, NE, Epi all come from?
Phenylalanine
114
What are the BCAAs that must be avoided due to a decrease in branched-chain alpha-ketoacid dehydrogenase (B1) present in Maple Syrup Urine Disease
I Love Vermont maple syrup
| Isoleucine, Leucine, Valine
115
Cystathione synthase deficiency is a cause of Homocystinuria, how do you treat it
Decrease methionine
| Increase cysteine, B6, B12, and folate
116
What crystals will be seen in Cystinuria
Hexagonal cystine stones
117
Hereditary defect of renal PCT and intestinal amino acid transporter that prevents reabsorption of Cystine, Ornithine, Lysine, Arginine
Cystinura
118
Urinary cyanide-nitroprusside test is diagnostic for ?
Cystinuria
119
Treatment for cystinuria
Urinary alklinization using potassium citrate and acetazolamide
Chelating agents ie penicillamine, to increase the solubility of cystine stones
120
Propionic acidemia is caused by a deficiency of propionyl-CoA carboxylase, leading to increased propionyl-CoA, and decreased methylmalonic acid. What are the substances that metabolize into propionyl-CoA that should be avoided in these patients
Valine, Odd-chain fatty acids, Methionine, Isoleucine, Threonine
(VOMIT)
121
Deficiency in Glucose-6-phosphatase
Von Gierke
122
Lysosomal acid a-1,4-glucosidase (acid maltase) with a-1,6-glucosidase activity deficiency
Pompe disease (type II GSD)
123
Debranching enzyme (a-1,6-glucosidase) deficiency
Cori Disease (type III)
124
Flat venous lactate curve w/ normal rise in ammonia levels during exercise
McArdle
125
Lysosomes w/ onion skinning, no hepatosplenomegaly, hyperreflexia, hyperacusis caused by deficient hexosaminidase A
Tay-Sachs
126
Peripheral neuropathy, angiokeratomas, hypohidrosis caused by a deficiency of alpha galactosidase A
Fabry disease
127
Central and peripheral demyleination w/ ataxia, dementia caused by a deficient arylsulfatase A
Metachromatic leukodystrophy
128
Gargolyism, developmental delay, corneal clouding, hepatosplenomegaly due to a defiency of a-L-iduronidase, which causes Heparan sulfate, and dermatan sulfate to accumulate
Hurler, which is Auto Recessive
129
Mild Hurler’s + aggressive behavior and NO CORNEAL CLOUDING due to deficient Iduronate-2-sulfatase w/ a buildup of Heparan sulfate, and dermatan sulfate
HUNTER
| X-linked because X marks the spot
130
LCFA degradation requires carnitine-dependent transport into the?
Mitochondrial matrix
131
What enzyme does Apolipoprotein-1 activate?
LCAT
| Lecithin-cholesterol acyltransferase, which catlayzes esterification of 2/3 of plasma cholesterol
132
Why chylomicron activates LPL?
CHylomicron Apolipoprotein C-II
133
Which apolipoprotein is needed to secrete chylomicrons into lymphatics and to release chylomicrons from enterocytes
B-48
134
Apolipoprotine B-100 is only on particles originating from the liver and it binds the?
LDL receptor
135
Which three apolipoproteins are donated by HDL
E, A-1, C-II
136
Where is Lipoprotein lipase found
Capillary walls and muscle tissue
137
Alcohol may increase synthesis of whic lipoprotein
HDL
138
Tendon xanthomas, corneal arcus, accelerated atherosclerosis due to absent or defective LDL receptors, or defective ApoB-100
Familial hypercholesterolemia AKA type II dyslipidemia
139
Defective ApoE leading to increased blood levels of Chylomicrons, VLDL and ***PALMAR*** Xanthomas. Also has premature atherosclerosis
Type III; Dysbetalipoproteinemia
140
Brain tumor that is rare in children, frequently calcified (will be bright on imagin), well-circumscribed masses in the frontal love. Microscopy will show uniform cells in “fried egg” appearance (round nuclei with clear cytoplasm), surrounded by anatomosing capillaries arranged in a “chicken wire” pattern
Oligodendroglioma
141
Brain tumor arising from epenndymal lining commonly occupries the 4th ventricle and can cause obstructive hydrocephalus. Perivascular pseudorosettes
Ependymoma
142
Low grade glioma occuring most frequently in cerebellum. Cystic and solid components. GFAP + hairlike processes, and eosinophilic intracytoplasmic inclusions known as rosenthal fibers.
Pilocytic astrocytoma
143
Where does a meningioma arise from?
Arachnoid cells.
| -histo: spindle cells concentrically arranged in a whorled pattern; psammoma bodies (laminated calcifications)
144
Viral inclusions in neurons and oligodendrocytes
SSPE, years after measles
145
COPS
Cns=Oligodendrocytes
| Pns=Schwann cells
146
Tumor that arises from granular cells of the cerebellum (neuroectoderm)
Medulloblastoma
147
Small blue cells, Homer-Wright rosettes Primitive NeuroEctodermal Tumor
Medulloblastoma
148
S-100(+) malignancies
Schwannoma, melanoma, langerhans cell histiocytosis
149
CAG repeat on chromosome 4
Huntingtons
150
Lewy bodies, composed of a-synuclein, are seen in which two diseases?
Parkinson’s, lewy body dementia
151
Perivascular pseudorosettes brain tumor in kid
Ependymoma
152
Fatal familial insomnia
Inherited prion disease w/ severe insomnia/ exaggerated startle response
153
In the Pick Bodies of frontotemporal dementia, what are the inclusions made out of?
Hyperphosphorylated tau or ubiquinated TDP-43
154
APO-E allele: e4 vs e2 in risk stratification for Alzheimer’s
e4 is increased risk
e2 is decreased risk
Age is biggest risk
155
Multiple Sclerosis HLA types
HLA-DR2
| HLA-B7
156
Right sided colon cancers vs left
| Mutation sequences
Right: microsatellite instability (usually HNPCC) (cancers de novo, not from polyps)
Left: adenoma-carcinoma sequence (usually FAP)
157
Lynch syndromee is an inherited defect in non-homologous end joining DNA repair; what cancers do these patients often get
Colorectal, ovarian, endometrial
158
HLA types for celiac disease
HLA DQ2
| HLA DQ8
159
What type of metaplasia is barretts?
Stratified squamous to non-ciliated columnar epithelium w/ goblet cells. Intestinal metaplasia, not considered gastric
160
What side of the colon would you find angiodysplasia
Right side. Tortuous dilation of vessels that can cause hematochezia.
161
Three risk factors for developing intestinal type gastric adenocarcinoma
1. Intestinal metaplasia
2. Nitrosamines in smoked foods
3. Blood type A
Males more than females. Females get diffuse more often
162
Presents as a large, irregular ulcer with heaped up margins. It typically occurs in the same location as a gastric ulcer would; the lesser curvature of the antrum of the stomach.
Intestinal gastric cancer
163
Characterized by signet ring cells (displaced nucleus, due to central mucus production) which diffusely infiltrate the intestinal wall. Desmoplasia commonly results in thickening of the stomach wall (linitus plastica)
Diffuse type
164
Upper, Middle, Lower carcinoma of the cancer. Which lymph nodes does each spread to?
Upper: cervical nodes
Middle: mediastinal or tracheobronchial nodes
Lower: celiac and gastric nodes
165
Hypersensitivity reaction of chronic autoimmune gastritis
Type IV
**N.B. Understand that damage to parietal cells is not a result of the anti-parietal cell or anti-IF antibodies seen on testing- these antibodies are merely a consequence of the damage inflicted on these cells**
166
Accumulation of organism-laden macrophages in the LP of the small bowel impinge upon the lymphatic lacteals that normally absorb chylomicrons?
Whipple’s disease
167
What is the measurment of CEA used for?
Only for measuring response to treatment and detecting recurrence of colorectal cancer. Not useful for screening
168
Which stomach cancer spreads to the Sister Mary Joseph nodule (periumbilical ln)
Intestinal type
169
Which stomach cancer is known to spread bilaterally to the ovaries (Krukenberg tumor)?
Gastric adenocarcinoma
170
What three diseases are positive for MPO-ANCA (p-ANCA)?
Microscopic polyangitis
Churg-Strauss (eosinophilic granulomatosis with polyangiitis)
Ulcerative colitis
171
Replacement of foveolar cells (non-mucous secreting columnar cells) with mucous-secreting goblet cells
Chronic autoimmune gastritis intestinal metaplasia
172
What cells are responsible for the strictures seen in crohn disease
Myofibroblasts
173
LLQ pain w/ bloody diarrhea
| RLQ pain with non-bloody diarrhea
UC
| Crohns
174
Which IBD has smoking as supposedly a protective factor
Ulcerative colitis
175
Left supraclavicular node (virchow node) metastasis
Gastric adenocarcinoma
176
AR mutation in microsomal transfer protein resulting in absent chylomicrons, VLDL, LDL. Deficiency in ApoB-48 and ApoB-100. Severe fat malabsorption, steatorrhea, ftt. Later on, retinitis pigmentosa, spinocerebellar degeneration due to vitamin E deficiency. *lipid laden enterocytes*
Abetalipoproteinemia
177
Flattening of villi, hyperplasia of crypts, intraepithelial lymphocytes, **damage mostly in duodenum**
Celiac disease
178
Type A vs Type B chronic gastritis
Type A: chronic autoimmune
| Type B: chronic h. Pylori gastritis
179
Familial Adenomatous Polyposis + medulloblastoma and glial tumors
Turcot
180
Peutz Jegher’s increases risk for which cancers
Colorectal, breast, gynecological, *pancreatic
181
Most common type of polyp and predominantly located in rectosigmoid region
Hyperplastic polyps
182
Adenomatous and serrated polyps have
Malignant potential
183
What part of node is enlarging during lymphadenopathy
Paracortex. Which houses the T-cells
184
medial malleolus from anterior to posterior
Tom Dick Harry
Tibialis posterior
Flexor digitorum profundus
Flexor hallucis longus
185
Thymoma
Myasthenia gravis
186
CD16 binds Fc region of bound IgG activating the NK cell
Antibody-dependent cell-mediated cytotoxicity
187
Deficiency of AIRE leads to which syndrome
Autoimmune polyendocrine syndrome 1
188
Crohns is mediated by which t cells?
Th1
189
UC is mediated by which t cells?
Th2
190
What does granzyme B due (secreted by cytotoxic t cells)
Activates caspases to initiateapoptosis
191
Genetic deficiency of FOXP3
IPEX
| Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked syndrome. Treg cell problem
192
Th1 cells secrete IFN-y to activate macrophages. Macrophages secrete TNF-a, which promotes the formation of
Granulomas
193
CD28, during T-cell activation, binds to which receptor on the APC?
B7 (CD80/86)
194
CD40L
On activated Th cells. Bind to CD40 on b cells. Th cells then secrete cytokines that determine Ig class switching of B cells.
195
Only antibody that crosses placenta
IgG
196
Monomer in circulation, dimer when secreted
IgA
197
IgA protease
Cleaves IgA
S.pneumo
H.influenzae
Neisseria
198
Autoantibody that stabilizes C3 convertase leading to overactivity of classical pathway, inflammation, hypocomplementia.
MPGN II
C3 nephritic factor
199
Major chemotactic agent for neutrophils
IL-8
200
```
IL-1
IL-6
TNF-a
IL-8
IL-12
```
Are secreted by macrophages
201
Alesleukin
IL-2 analog for RCC, Melanoma
| Activates NK cells to kill tumors
202
Deficiency of IL-12 will cause a weak Th1 response because IL-12 induces differentiation of T cells into Th1 cells. What are some unique things these patients might experience
Increased salmonella infections
| Disseminated infection after BCG vaccine
203
IL-4 class switching
IgE
204
IL-5 class switching
IgA
205
Catalase Positive: Notoriously Bubbling HASSLE
```
Candida
Pseudomonas
Nocardia
B. Cepacia
H. Pylori
Aspergillus
Staphylococci
Serratia
Listeria
E. Coli
```
206
CXCR4/CCR5 are coreceptors for HIV on which cells?
Helper T cells
207
CD19, CD20, CD21, CD40
B cells
208
CD14
Macrophages (receptor for PAMPs, eg, LPS)
209
CD34
Hematopoietic stem cell
210
Vi capsule
Salmonella typhi
| Typhoid fever: rose spots on abdomen, constipation, abdominal pain, fever; later GI ulceration and hemorrhage.
211
Vaccines for Clostridium tetani and Corynebacterium diphtheriae
Toxoid: Denatured bacterial toxin w/ an intact receptor binding site.
212
SLE, Polyarteritis nodosa, PSGN
| HSR reaction type?
Type III
213
Acute hemolytic transfusion reaction
Example is ABO blood group incompatibility
HSR type?
Type II
214
Anti-beta2 glycoprotein I
Antiphospholipid syndrome
215
Anti-Scl-70 (anti-DNA topoisomerase I)
Scleroderma (diffuse)
216
Anti-phospholipase A2 receptor
Primary membranous nephropathy
217
Anti-glutamic acid decarboxylase
Type 1 DM
218
Selective IgA deficiency can cause a false positive
bHCG pregnancy test
219
Increased susceptibility to giardiasis
IgA deficiency
220
Deficiency of Th17 cells due to STAT3 mutation
Job syndrome. Hyper-IgE.
| Staph abscesses, baby teeth
221
Decreased T-Cell receptor excision circles
SCID
222
Defective CD40L on Th cells, X-linked recessive, opportunistic infection with pneumocystitis, cryptosporidium, CMV
Hyper-IgM. Bcells cant switch out of IgM
223
```
Male infant (x-linked recessive), 6 months, eczema, low platelets, recurrent infections.
-Increased IgE, IgA, but decreased to normal IgG, IgM
```
Wiskott-Aldrich
224
Drug given to lupus patients that reversibly inbibits IMP dehydrogenase, preventing purine synthesis of B and T cells
Mycophenolate Mofetil
225
GM-CSF recombinant cytokine
SarGraMostim
226
G-CSF recombinant cytokine
FilGrastim
227
RomiPLoSTIM
TPO analog
228
Eltrombopag
TPO receptor agonist
229
IFN-B immunotherapy
Multiple Sclerosis
230
Bevacizumab
VEGF
231
Alemtuzumab
CD52, which is anchored to GPI.
| Treatment of CLL, MS
232
Rituximab
CD20
233
Eculizumab
Complement protein C5
| Paroxysmal noctural hemoglobinuria
234
Natalizumab
a4-integrin
| Treatment of MS, Crohns
235
Ustekinumab
IL-12, IL-23
| Treatment of Psoriasis, Psoriatic arthritis
236
Antiplatelet agent for prevention of ischemic complications in patients undergoing percutaneous coronary intervention that targets GpIIb/IIIa
Abciximab
237
Drug that mimics osteoprotegerin in the treatment of osteoporosis
Denosumab
238
Refractory allergic asthma drug
| Prevents IgE binding to FceRI AKA high affinity IgE receptor
Omalizumab
239
RSV prophylaxis for high risk infants
| Targets RSV fusion protein (F)
Palvizumab
240
Fas-FasL, TNF-a, perforin/granzyme B from cytotoxic T-cells, are all part of what apoptotic pathway
Extrinsic
241
Does coagulative necrosis have preserved cellular architecture?
Yes, but nuclei disappear. Increased eosin staining of cytoplasm will be seen
242
Immune complex deposition (type III hsr) and/or plasma protein (eg fibrin) leakage from damaged vessel. Leads to what type of necrosis
Fibrinoid
243
Area of heart most susceptible to ischemia
Subendocardium
244
Why do you see fatty change in Kwashiorkor (protein deficient)?
Decreased apolipoprotein synthesis leads to inability to release fatty acids into circulation and the inability to process incoming lipids.
245
Primary amyloidosis is which fibril protein
AL from Ig Light chains
246
Secondary amyloidosis is which fibril protein
Serum Amyloid A (AA); seen in chronic inflammatory conditions
247
What is cleaved from amyloid precursor protein (APP) in alzheimers patients
Beta amyloid
248
Mutated transthyretin (ATTR) leads to familial amyloid cardiomyopathy featuring ventricular endomyocardium deposition. What type of cardiomyopathy
Restrictive
249
Pyrogens (eg LPS) induce macrophages to release IL-1, TNF causing increased COX activity in which cells of the hypothalamus? What do they release
Perivascular cells. Release PGE2, which increases the temperature set point
250
Ferritin, Fibrinogen, SAA, Hepcidin, C-reactive protein are all
Acute phase reactants that are positively upregulated
251
How does hepcidin contribute to anemia of chronic disease
decreasses iron absorption by degrading ferroportin, and decreases iron release from macrophages—> both of these facts lead to AOCD
252
Giant cell arteritis and polymyalgia rheumatica both increase which rate
Erythrocyte sedimentation rate
253
Light criteria
Pleural fluid protein: serum protein >.5
Pleural fluid LDH: serum LDH >.6
Pleural fluid LDH>2/3rd the upper limit of normal for serum LDH
254
Deficiency of Sialyl Lewisx on PMNs
Leukocyte adhesion type II
255
During margination and rolling, the E/P selectins of vessel interact w/ sialyl lewis on PMNs, what vessel receptors interact with the L-selectin of the leukocyte during this time?
GlyCAM-1, CD34 interact with the L-selectin on the leukocytes during margination and rolling
256
Defective tight binding due to decreased CD18 integrin subunit
Leukocyte adhesion deficiency type 1
257
During tight binding, ICAM-1 (CD 54) of the vessel binds to which integrins of the leukocyte?
CD11, CD18 integrins (LFA-1, Mac-1)
258
During tight binding what does VCAM-1 (CD106) of the vessel wall bind to on the leukocyte?
VLA-4 integrin
259
PECAM-1 (CD31) allows which process to occur with leukocytes
Diapedesis (transmigration)
260
C5a, IL-8, LTB4, kallikrein, platelet-activating factor
Chemotactic factors
261
When Th2s secrete IL-4, IL-13, what macrophage pathway are they activating
Alternative activation (repair and anti-inflammatory)
262
FGF, TGF B, VEGF all stimulate something in common
Angiogenesis
263
What mediator induces vascular remodeling, smooth muscle cell migration, and stimulates fibroblast growth for collagen synthesis?
PDGF, which is secreted by activated platelets and macrophages
264
Epithelioid cell vs Multinucleated Giant cell
Epithelioid: activated macrophages w/ abundant pink cytoplasm
Multinucleated giant cell: formed by fusion of several activated macrophages
265
What is the mechanism of Granulomatous inflammation*****
1. APCs present antigens to CD4+ Th cells and secrete IL-12, which causes the CD4+ Th cells to differentiate into Th1
2. Th1s secrete IFN-y, which activates macrophages
3. Macrophages increase cytokine secretion (eg, TNF-a)—> formation of epithelioid macrophages and giant cells
266
How doe tumor cells invade the bm?
Collagenases and hyrolases (metalloproteinases) and cell-cell contacts lost by inactivation of E-cadherin
267
Disorganized overgrowth of tissues in their native locations
Hamartoma
268
Normal tissue in a foreign location such as gastric tissue in meckel diverticulum
Choristoma
269
Stage of a cancer generally has...?
More prognostic value than grade
270
Pembrolizumab and nivolumab are antibodies against what T cell receptor
PD-1
| Helps avoid t-cell exhaustion via tumor cell
271
Atezolizumab, duravulmab, avelumab are antibodies against what tumor ligand
PD-L1, help to prevent T-cell exhaustion via tumor cell
272
Anti-CTLA-4 antibody which outcomes CD28 for B7 on APCs leading to loss of T-cell costimulatory signal (cancer immunotherapy)
Ipilimumab
273
Blastic metz to bones usually come from which primary tumors
Prostate and small cell lung cancer
274
Lytic metz to the bones usually come from what primary cancers
Thyroid, kidney, non-small cell lung cancer
275
The receptor tyrosine kinase oncogene, ALK, is associated with adenocarcinoma of?
The lung
276
BCL-2 oncogene is associated with which neoplasms
Follicular and diffuse large B Cell Lymphomas
277
The serine/threonine kinase oncogene known as BRAF is associated with which neoplasms
Melanoma, non-hodgkin lymphoma, papillary thyroid carcinoma, hairy cell leukemia
278
The GTPase oncogene known as KRAS is associated w/ which neoplasms
Colon cancer, lung cancer, pancreatic cancer
279
The RET oncogene Receptor tyrosine Kinase is associated with which neoplasms/ disorders
MEN2A, MEN2B, papillary thyroid cancer
280
Tumor suppressor that is negative regulator of B-catenin/WNT pathway associated w/ colorectal cancer (FAP specifically)
APC
281
Which product of the tumor suppressor gene, CDKN2A, is responsible for blocking G1 to S phase? What are associated neoplasms?
p16-INK4A inhibits the phosphorylation of the Rb protein by CDK4 or CDK6 and subsequent entry into the S phase of the cell cycle.
Mutated in Melanoma, pancreatic cancer
282
Tumor suppressor that is a negative regulator of PI3k/AKT pathway, and if mutated leads to breast, prostate, and endometrial tumors
PTEN
283
SBLA LiFraumeni mnemonic
Sarcoma, Breast, Leukemia, Adrenal gland
284
Transitional cell carcinoma of bladder
Cigz
285
2nd leading cause of lung cancer after cig smoke
Radon
286
GFAP stain
Neuroglia (astrocytes, schwann cells, oligodendrocytes)
287
TRAP stain
Hairy cell leukemia
288
Pure red cell aplasia (anemia w/ low reticulocytes) and good syndrome (hypogammaglobulinemia) are paraneoplastic syndromes of what tumor
Thymoma
289
Anti-NMDA receptor encephalitis
Ovarian teratoma
290
Small cell lung cancer: anti-Hu
Gynecologic/breast cancers: anti-Yo
Hodgkin lymphoma: anti-Tr
-what are these antibodies against and in what paraneoplastic syndrome
Abs against purkinje cells
| Paraneoplastic cerebellar degeneration
291
Case-control study measures what?
Odds ratio
292
Cohort study measures what?
Relative Risk
293
Looks to see if odds of prior exposure or risk factor differ by disease state
Case-control
| Which measures Odds Ratio
294
Looks to see if exposure or risk factor is associated with later development of disease
Cohort study
| which measures relative risk
295
Compares the effect of a series of 2 or more treatments on a patient and allows participants to serve as their own controls
Crossover study
296
Relative risk reduction, which is the proportion of risk reduction attributable to the intervention as compared to a control, can be calculated how
RRR= 1-RR
297
The consistency and reproducibility of a test. The absence of random variation in a test.
Precision (reliability)
298
The trueness of test measurements. The absence of systematic error or bias in a test.
Systematic error decreases accuracy in a test
299
Early detection makes it seem like survival has increased but the diseases natural history has not changed
Lead-time bias
300
A slowly progressive cancer is more likely detected by a screening test than a rapidly progressive cancer
Lenth-time bias
301
Which measure of central tendency is most affected by outliers?
Mean= average
302
Which measure of central tendency is least affected by outliers
Mode= most common value
303
Standard error decreases as
Sample size (n) increases
304
In a normal distribution, Mean=Median=Mode, what are the percentages associated with 1, 2, and 3 standard deviations
1=68% of data
2=95% of data
3=99.7% of data
305
On a skewed graph, what will always be the measure of central tendency that correspons to the tallest y axis? As in top of the hill etc
Mode
306
If the 95% confidence interval for odds ratio or relative risk includes the value of 1, then?
The null hypothesis is not rejected
307
If confidence intervals for two different groups dont overlap, then?
There is likely statistically significant difference between the groups
308
Checks differences between means of TWO groups
t-test
309
Checks differences between means of 3 or more groups
ANOVA
310
Checks differences between 2 or more percentages or poroportions of CATEGORICAL outcomes (not mean values) example comparing the percentage of members of 3 different ethnic groups who have essential hypertension
Chi-square test
311
Ethical duty to act in patient’s best interest
Beneficence
312
To treat persons fairly and equitably (fair or impartial manner). This does not always imply equally, ie triage situations
Justice
313
Disclosure, understanding (comprehension), capacity (ability to reason/make own choices), and voluntariness are all part of
Informed consent
314
If a patient has not prepared an advance directive, what is order of surrogates?
“the spouse ChiPS”
spouse, adult Chi-ldren, Parents, Siblings, other relatives
