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1
Q

Irinotecan/topotecan inhibit which topoisomerase?

A

1

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2
Q

Etoposide/teniposide inhibit which topoisomerase

A

2 (dna gyrase)

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3
Q

Which DNA polymerase degrades the RNA primer in prokaryotes

A

DNA polymerase I

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4
Q

what is a nonsense mutation

A

mutation resulting in stop codon (UAG, UAA, UGA)

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5
Q

Duchenne MD, Tay-Sachs are what class of genetic mutation

A

Frameshift

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6
Q

Xeroderma pigmentosum is a defect in?

A

nucleotide excision repair; pyrimidine dimers caused by UV exposure. Repair should occur in G1 phase

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7
Q

What process is defective in Lynch syndrome?

A

Mismatch repair

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8
Q

What process is defective in ataxia telangiectasia?

A

nonhomologous end joining

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9
Q

Homologous recombination is defective in which two cancer mutations/syndromes

A

BRCA1 (breast/ovarian), and in Fanconi Anemia

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10
Q

Capping of 5’end, polyadenylation of 3’ end, splicing out of introns all occurs in?

A

the nucleus

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11
Q

capped, tailed, spliced transcript is called?

A

mRNA

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12
Q

RNA polymerase I (eukaryotes) makes what type of RNA

A

rRNA; only in nucleolus

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13
Q

RNA polymerase II (eukaryotes) makes what types of mRNA

A

mRNA, snRNA

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14
Q

RNA polymerase III (eukaryotes) makes what types of RNA?

A

5S rRNA, tRNA

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15
Q

alpha-amanitin, from amanita phalloides death cap muschroom, inhibits which eukaryotic RNA polymerase?

A

RNA polymerase II

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16
Q

What does the RNA polymerase in prokaryotes make

A

all 3 kinds of RNA

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17
Q

Where is the CCA sequence on tRNA and what does it carry?

A

3’ end of tRNA; Can Carry Amino acids

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18
Q

T arm of tRNA purpose

A

tethers tRNA molecule to ribosome

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19
Q

What does aminoacyl-tRNA synthetase do?

A

charges tRNA w/ an amino acid at the 3’ CCA region

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20
Q

What does IF2 do to tRNA?

A

pairs it with the codon on the mRNA

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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

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22
Q

What is the site of synthesis of the N-linked oligosaccharide and secretory (exported) proteins?

A

Rough ER

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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

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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.

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25
Q

Zellweger syndrome is an autosomal recessive disorder of peroxisome biogenesis due to what mutation?

A

PEX gene

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26
Q

Refsum disease is an autosomal recessive disorder of what? What are some findings related to the skin, eyes, and the fourth fucking toe?

A

Alpha-oxidation in peroxisomes—>phytanic acid not metabolized to pristanic acid. Scaly skin, ataxia, cataracts/night blindness, shortening of 4th toe, epiphyseal dysplasia.

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27
Q

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?

A

ABCD1

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28
Q

A decreased nasal nitric acid oxide is a positive screening in what two disorders?

A

VERY low in primary ciliary dyskinesia

Low in Cystif Fibrosis as well

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29
Q

Bone, skin, tendon, dentin, fascia, cornea are what type of collagen?

A

Type 1; which is decreased in osteogenesis imperfecta

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30
Q

Cartilage including hyaline, viteous body, and nucleus pulposus is what type of cartilage

A

Type 2

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31
Q

Type III collagen found in?

A

Reticulun—skin, blood vessels, granulation tissue

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32
Q

The lens/ basement membrane are what type of collagen

A

Type IV

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33
Q

Where does hydroxylation of proline/lysine, which requires Vitamin C, take place? (Collagen synthesis)

A

Rough ER

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34
Q

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

A

Osteogenesis imperfecta; a problem w/ the secondary structure i.e. forming the triple helix

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35
Q

Problems w/ cleaving the disulfide rich terminal regions of procollagen into insoluble tropocollagen results in which disease? This occurs in the extracellular space

A

Ehlers-Danlos syndrome

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36
Q

Reinforcement of tropocollagen by covalent lysine-hydroxylysine cross-linkage by copper containing lysyl oxidase to make collagen fibrils results in which two diseases?

A

Ehlers Danlos, and Menkes disease

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37
Q

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

A

Osteogeneis imperfecta

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38
Q

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?

A

Hypermobility type most common
Classical type is type V collagen
Vascular type is type III collagen

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39
Q

Brittle, kinky hair, growth retardation, hypotonia, ATP7A mutation

A

Menkes disease

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40
Q

FBN1 mutation on chromosome 15

A

Marfan

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41
Q

What do you use PCR for

A

Amplify a desired fragment of DNA*

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42
Q

What is the reverse transcriptase PCR?

A

Detects and quantifies mRNA levels using reverese transcriptase to create a complementary DNA template that is amplified via standard PCR procedure

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43
Q

SNoW DRoP for blotting procedures

A 
Southern= DNA
Northern= RNA
Western= Protein
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44
Q

Why is the right lower quadrant empty in flow cytometry

A

All CD8 expressing cells also express CD3

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45
Q

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

A

Codominance; both alleles contribute to phenotype

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46
Q

Loss of heterozygosity

A

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)

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47
Q

Pleiotropy

A

One gene contributes to multiple phenotypic effects such as PKU has light skin, mental retardation, musty body odor

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48
Q

Dominant negative

A

A heterozygote produces a nonfunctional altered protein that alsoprevents the normal gene product from functioning

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49
Q

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

A

Mccune albright syndrome

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50
Q

Somatic mosaicism is a mutation that happens before or after fertilization?

A

After fertilization

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51
Q

Mutations at different loci produce similar phenotype?

Mutations in the same loci produce similar phenotype?

A

Locus heterogeneity is mutations at different loci

Allelic heterogeneity is different mutations in same locus

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52
Q

Presence of both normal and mutated mtDNA resulting in variable expression in mitochondrially inherited disease

A

Heteroplasmy

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53
Q

What are the equations for Hardy-Weinberg

A

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

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54
Q

Hypophasphatemic rickets, fragile X, alport syndrome all have what type of inheritance pattern

A

X-linked DOMINANT

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55
Q

Mothers transmit to 50% of daughters and sons; fathers transmit to all daughters but no sons?

A

X-linked Dominant

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56
Q

Secretes Cl- in lungs and Gi tract but reabsorbs Cl- in sweat glands

A

CFTR, normal

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57
Q

What agent used to induce sweat for CFTR mutation testing

A

Pilocarpine

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58
Q

What fluid balance status is most likely to present w/ a cystic fibrosis patient?

A

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

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59
Q

What is the newborn screening for CF?

A

Increased immunoreactive trypsinogen

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60
Q

Reticulonodular pattern on cxr

A

Bronchiectasis

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61
Q

What is lumacaftor and what is its MOA

A

CFTR phe508 deletion drug that corrects misfolded proteins and improves their transport to cell surface

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62
Q

What is ivacaftor and what is its moa

A

CFTR Phe508 deletion that opens Cl- channels and improves chlroide transport

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63
Q

What is an X-linked disorder due to a frameshift deletion that causes a truncated or absent dystrophin protein

A

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

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64
Q

What lab values are up in a Duchenne MD patient

A

CK and aldolase

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65
Q

MCCOD in duchenne muscular dystrophy

A

Dilated cardiomyopahty

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66
Q

X-linked disorder due to NON-frameshift deletion resulting in partially functioning dystrophin protein

A

Becker

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67
Q

CTG expansion in DMPK leads to an abnormal expression of myotonin protein kinase. Which disease and what are the effects seen

A

Myotonic type 1 muscular dystrophy. Cataracts, Toupee, Gonadal atrophy

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68
Q

MECP2 de novo mutation on X chromosome with stereotyped hand-wringing, ataxia, failure to thrive

A

Rett syndrome

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69
Q

CGG expansion that occurs during oogenesis in the FMR1 gene, resulting in hypermethylation and decreased expression. X-linked DOMINANT disorder

A

Fragile X

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70
Q

GAA repeat

A

Friedreich ataxia

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71
Q

CAG repeat

A

Huntington. Caudate has decreased ACh and GABA

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72
Q

Increased hCG and inhibin

A

Down syndrome

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73
Q

Trisomy 13

A

Patau

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74
Q

Trisomy 18

A

Edward

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75
Q

In 1st trimester screening, B-hCG, and PAPP-A are decreased in trisomy 13,18, and 21 except for which exception?

A

beta-hcg of trisomy 21 is increased in first trimester screening

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76
Q

In 2nd trimester, what is findings for b-hcg, inhibin a, estriol, and AFP for trisomy 21

A

B-hcg and inhibin a are increased, estriol and afp are decreased

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77
Q

What are the 2nd trimester screening results for trisomies 18, 13 in regards to b-hcg, inhibin a, estriol, and AFP?

A

In trisomy 18 they are all down, except inhibin A might be normal
In trisomy 13 everything is unchanged

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78
Q

Elfin facies, hypercalcemia, supravalvular aortic stenosis

A

Williams syndrome: long arm of chr 7 deletion, deleted region includes elastin

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79
Q

What vitamin is used to treat measles and APL?

A

Vitamin a

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80
Q

High output cardiac failure due to thiamine deficiency

A

Wet beriberi (dilated cardiomyopathy)

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81
Q

What activity will increase once thiamine is given to a thiamine deficient patient?

A

Diagnosis is made by increased RBC transketolase activity after B1 administration

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82
Q

Corneal vascularization, Cheilosis

A

B2 (riboflavin) deficiency

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83
Q

B3 (niacin) is a derivative of ?

A

Tryptophan

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84
Q

The facial flushing produced by excess niacin is not induced by histamines but by? How can this be avoided?

A

Induced by prostaglandins, NOT histamine. Take the shit with aspirin to prevent

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85
Q

B vitamin needed for transamination decarboxylation reactions, synthesis of heme, and neurotransmitters

A

B6

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86
Q

When do you give someone folate before and during pregnancy

A

1 month before and for the entire 9 months

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87
Q

What is an ancillary treatment for methemoglobinemia

A

Vitamin C, works by reducing Fe3 to Fe2

Main treatment is methylene blue

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88
Q

An excess of which vitamin can make iron toxicity worse in predisposed patients

A

Vitamin C because it increases dietary iron absorption

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89
Q

Tocopherol and tocotrienol

A

Vitamin e

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90
Q

Dysgeuisia (taste distortion), anosmia, acrodermatitis enteropathica

A

Zinc deficiency

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91
Q

Marasmus

A

Malnutrition due to caloric deficit, not protein like in Kwashiokor.

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92
Q

Severe galactosemia enzyme

A

Galactose-1-phosphate uridyltransferase

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93
Q

Galactose-1-phosphate to Glucose-1-phosphate

A

Galactose-1-phosphate uridyltransferase

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94
Q

Essential fructosuria enzyme

A

Fructokinase

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95
Q

Fructose intolerance enzyme

A

Aldolase B

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96
Q

In a state of low blood sugar, which one is working: hexokinase of glucokinase

A

Hexokinase working because there is not a bunch of Glucose-6-phosphate inhibiting it

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97
Q

What is the on/off switch for glycolysis? When it is increased how does it affect glycolysis? Decreased?

A

Fructose 2,6 Bisphosphate

When it is increased glycolysis is on, when it is low no glycolysis and gluconeogenesis is turned on

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98
Q

Neurologic defects, lactic acidosis, increased serum alanine starting in infancy; but NO hypoglycemia

A

pyruvate dehydrogenase complex deficiency. Tx w/ increased intake of ketogenic nutrients

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99
Q

Rotenone inhibits whic ETC complex

A

Complex I

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100
Q

Antimycin A inhibits which ETC complex

A

Complex 3

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101
Q

Cyanide, Carbon monoxide, azide (the -ides) inhibit which ETC complex

A

IV

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102
Q

Oligomycin directly inhibits mitochondrial ATP synthase in which complex

A

Complex V

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103
Q

2,4-Dinitrophenol and aspirin have what effect on ETC?

A

Uncoupling agents, produce heat.

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104
Q

What enzyme steps in when there is a defect in fructokinase leading to essential fructosuria

A

Hexokinase

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105
Q

When fructose-1-phosphate accumulates in the hereditary deficiency of aldolase B (hereditary fructose intolerance), what is causing the inhibition of glycogenolysis and gluconeogensis?

A

Buildup of F1P decreases available phosphate

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106
Q

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?

A

E.coli

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107
Q

What tissues have only aldose reductase and not sorbitol dehydrogenase and are more likely to get osmotic damage? (LuRKS)

A

Lens has primarily aldose reductase.

Retina, Kidneys, Schwann cells have ONLY aldose reductase

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108
Q

Primary lactase deficiency is due to

A

Absence of lactase-persistent allele

Stool has decreased pH in lactase deficiency. But biopsy reveals normal mucosa

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109
Q

N-acetylglutamate is an allosteric activator of the urea cycle enzyme that is in the mitochondria. What is this enzyme

A

Carbamoyl phosphate synthetase 1 (ONE*)

Converts CO2 and NH3 into carbamoyl phosphate

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110
Q

X-linked recessive disorder where excess carbamoyl phosphate is converted to orotic acid (part of the pyrimidine pathway)

A

OTC deficiency. Will see increased orotic acid in blood and urine, decreased BUN, and SYMPTOMS OF HYPERAMMONEMIA

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111
Q

What amino acid does Heme start from

A

Glycine

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112
Q

Niacin, Serotonin, Melatonin all come from?

A

Tryptophan

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113
Q

Tyrosine, DOPA, Dopamine, NE, Epi all come from?

A

Phenylalanine

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114
Q

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

A

I Love Vermont maple syrup

Isoleucine, Leucine, Valine

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115
Q

Cystathione synthase deficiency is a cause of Homocystinuria, how do you treat it

A

Decrease methionine

Increase cysteine, B6, B12, and folate

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116
Q

What crystals will be seen in Cystinuria

A

Hexagonal cystine stones

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117
Q

Hereditary defect of renal PCT and intestinal amino acid transporter that prevents reabsorption of Cystine, Ornithine, Lysine, Arginine

A

Cystinura

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118
Q

Urinary cyanide-nitroprusside test is diagnostic for ?

A

Cystinuria

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119
Q

Treatment for cystinuria

A

Urinary alklinization using potassium citrate and acetazolamide
Chelating agents ie penicillamine, to increase the solubility of cystine stones

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120
Q

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

A

Valine, Odd-chain fatty acids, Methionine, Isoleucine, Threonine
(VOMIT)

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121
Q

Deficiency in Glucose-6-phosphatase

A

Von Gierke

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122
Q

Lysosomal acid a-1,4-glucosidase (acid maltase) with a-1,6-glucosidase activity deficiency

A

Pompe disease (type II GSD)

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123
Q

Debranching enzyme (a-1,6-glucosidase) deficiency

A

Cori Disease (type III)

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124
Q

Flat venous lactate curve w/ normal rise in ammonia levels during exercise

A

McArdle

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125
Q

Lysosomes w/ onion skinning, no hepatosplenomegaly, hyperreflexia, hyperacusis caused by deficient hexosaminidase A

A

Tay-Sachs

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126
Q

Peripheral neuropathy, angiokeratomas, hypohidrosis caused by a deficiency of alpha galactosidase A

A

Fabry disease

127
Q

Central and peripheral demyleination w/ ataxia, dementia caused by a deficient arylsulfatase A

A

Metachromatic leukodystrophy

128
Q

Gargolyism, developmental delay, corneal clouding, hepatosplenomegaly due to a defiency of a-L-iduronidase, which causes Heparan sulfate, and dermatan sulfate to accumulate

A

Hurler, which is Auto Recessive

129
Q

Mild Hurler’s + aggressive behavior and NO CORNEAL CLOUDING due to deficient Iduronate-2-sulfatase w/ a buildup of Heparan sulfate, and dermatan sulfate

A

HUNTER

X-linked because X marks the spot

130
Q

LCFA degradation requires carnitine-dependent transport into the?

A

Mitochondrial matrix

131
Q

What enzyme does Apolipoprotein-1 activate?

A

LCAT

Lecithin-cholesterol acyltransferase, which catlayzes esterification of 2/3 of plasma cholesterol

132
Q

Why chylomicron activates LPL?

A

CHylomicron Apolipoprotein C-II

133
Q

Which apolipoprotein is needed to secrete chylomicrons into lymphatics and to release chylomicrons from enterocytes

134
Q

Apolipoprotine B-100 is only on particles originating from the liver and it binds the?

A

LDL receptor

135
Q

Which three apolipoproteins are donated by HDL

A

E, A-1, C-II

136
Q

Where is Lipoprotein lipase found

A

Capillary walls and muscle tissue

137
Q

Alcohol may increase synthesis of whic lipoprotein

138
Q

Tendon xanthomas, corneal arcus, accelerated atherosclerosis due to absent or defective LDL receptors, or defective ApoB-100

A

Familial hypercholesterolemia AKA type II dyslipidemia

139
Q

Defective ApoE leading to increased blood levels of Chylomicrons, VLDL and PALMAR Xanthomas. Also has premature atherosclerosis

A

Type III; Dysbetalipoproteinemia

140
Q

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

A

Oligodendroglioma

141
Q

Brain tumor arising from epenndymal lining commonly occupries the 4th ventricle and can cause obstructive hydrocephalus. Perivascular pseudorosettes

A

Ependymoma

142
Q

Low grade glioma occuring most frequently in cerebellum. Cystic and solid components. GFAP + hairlike processes, and eosinophilic intracytoplasmic inclusions known as rosenthal fibers.

A

Pilocytic astrocytoma

143
Q

Where does a meningioma arise from?

A

Arachnoid cells.

-histo: spindle cells concentrically arranged in a whorled pattern; psammoma bodies (laminated calcifications)

144
Q

Viral inclusions in neurons and oligodendrocytes

A

SSPE, years after measles

145
Q

COPS

A

Cns=Oligodendrocytes

Pns=Schwann cells

146
Q

Tumor that arises from granular cells of the cerebellum (neuroectoderm)

A

Medulloblastoma

147
Q

Small blue cells, Homer-Wright rosettes Primitive NeuroEctodermal Tumor

A

Medulloblastoma

148
Q

S-100(+) malignancies

A

Schwannoma, melanoma, langerhans cell histiocytosis

149
Q

CAG repeat on chromosome 4

A

Huntingtons

150
Q

Lewy bodies, composed of a-synuclein, are seen in which two diseases?

A

Parkinson’s, lewy body dementia

151
Q

Perivascular pseudorosettes brain tumor in kid

A

Ependymoma

152
Q

Fatal familial insomnia

A

Inherited prion disease w/ severe insomnia/ exaggerated startle response

153
Q

In the Pick Bodies of frontotemporal dementia, what are the inclusions made out of?

A

Hyperphosphorylated tau or ubiquinated TDP-43

154
Q

APO-E allele: e4 vs e2 in risk stratification for Alzheimer’s

A

e4 is increased risk
e2 is decreased risk
Age is biggest risk

155
Q

Multiple Sclerosis HLA types

A

HLA-DR2

HLA-B7

156
Q

Right sided colon cancers vs left

Mutation sequences

A

Right: microsatellite instability (usually HNPCC) (cancers de novo, not from polyps)
Left: adenoma-carcinoma sequence (usually FAP)

157
Q

Lynch syndromee is an inherited defect in non-homologous end joining DNA repair; what cancers do these patients often get

A

Colorectal, ovarian, endometrial

158
Q

HLA types for celiac disease

A

HLA DQ2

HLA DQ8

159
Q

What type of metaplasia is barretts?

A

Stratified squamous to non-ciliated columnar epithelium w/ goblet cells. Intestinal metaplasia, not considered gastric

160
Q

What side of the colon would you find angiodysplasia

A

Right side. Tortuous dilation of vessels that can cause hematochezia.

161
Q

Three risk factors for developing intestinal type gastric adenocarcinoma

A
  1. Intestinal metaplasia
  2. Nitrosamines in smoked foods
  3. Blood type A
    Males more than females. Females get diffuse more often
162
Q

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.

A

Intestinal gastric cancer

163
Q

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)

A

Diffuse type

164
Q

Upper, Middle, Lower carcinoma of the cancer. Which lymph nodes does each spread to?

A

Upper: cervical nodes
Middle: mediastinal or tracheobronchial nodes
Lower: celiac and gastric nodes

165
Q

Hypersensitivity reaction of chronic autoimmune gastritis

A

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
Q

Accumulation of organism-laden macrophages in the LP of the small bowel impinge upon the lymphatic lacteals that normally absorb chylomicrons?

A

Whipple’s disease

167
Q

What is the measurment of CEA used for?

A

Only for measuring response to treatment and detecting recurrence of colorectal cancer. Not useful for screening

168
Q

Which stomach cancer spreads to the Sister Mary Joseph nodule (periumbilical ln)

A

Intestinal type

169
Q

Which stomach cancer is known to spread bilaterally to the ovaries (Krukenberg tumor)?

A

Gastric adenocarcinoma

170
Q

What three diseases are positive for MPO-ANCA (p-ANCA)?

A

Microscopic polyangitis
Churg-Strauss (eosinophilic granulomatosis with polyangiitis)
Ulcerative colitis

171
Q

Replacement of foveolar cells (non-mucous secreting columnar cells) with mucous-secreting goblet cells

A

Chronic autoimmune gastritis intestinal metaplasia

172
Q

What cells are responsible for the strictures seen in crohn disease

A

Myofibroblasts

173
Q

LLQ pain w/ bloody diarrhea

RLQ pain with non-bloody diarrhea

174
Q

Which IBD has smoking as supposedly a protective factor

A

Ulcerative colitis

175
Q

Left supraclavicular node (virchow node) metastasis

A

Gastric adenocarcinoma

176
Q

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

A

Abetalipoproteinemia

177
Q

Flattening of villi, hyperplasia of crypts, intraepithelial lymphocytes, damage mostly in duodenum

A

Celiac disease

178
Q

Type A vs Type B chronic gastritis

A

Type A: chronic autoimmune

Type B: chronic h. Pylori gastritis

179
Q

Familial Adenomatous Polyposis + medulloblastoma and glial tumors

180
Q

Peutz Jegher’s increases risk for which cancers

A

Colorectal, breast, gynecological, *pancreatic

181
Q

Most common type of polyp and predominantly located in rectosigmoid region

A

Hyperplastic polyps

182
Q

Adenomatous and serrated polyps have

A

Malignant potential

183
Q

What part of node is enlarging during lymphadenopathy

A

Paracortex. Which houses the T-cells

184
Q

medial malleolus from anterior to posterior

A

Tom Dick Harry
Tibialis posterior
Flexor digitorum profundus
Flexor hallucis longus

185
Q

Thymoma

A

Myasthenia gravis

186
Q

CD16 binds Fc region of bound IgG activating the NK cell

A

Antibody-dependent cell-mediated cytotoxicity

187
Q

Deficiency of AIRE leads to which syndrome

A

Autoimmune polyendocrine syndrome 1

188
Q

Crohns is mediated by which t cells?

189
Q

UC is mediated by which t cells?

190
Q

What does granzyme B due (secreted by cytotoxic t cells)

A

Activates caspases to initiateapoptosis

191
Q

Genetic deficiency of FOXP3

A

IPEX

Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked syndrome. Treg cell problem

192
Q

Th1 cells secrete IFN-y to activate macrophages. Macrophages secrete TNF-a, which promotes the formation of

A

Granulomas

193
Q

CD28, during T-cell activation, binds to which receptor on the APC?

A

B7 (CD80/86)

194
Q

CD40L

A

On activated Th cells. Bind to CD40 on b cells. Th cells then secrete cytokines that determine Ig class switching of B cells.

195
Q

Only antibody that crosses placenta

196
Q

Monomer in circulation, dimer when secreted

197
Q

IgA protease

A

Cleaves IgA
S.pneumo
H.influenzae
Neisseria

198
Q

Autoantibody that stabilizes C3 convertase leading to overactivity of classical pathway, inflammation, hypocomplementia.
MPGN II

A

C3 nephritic factor

199
Q

Major chemotactic agent for neutrophils

200
Q 
IL-1
IL-6
TNF-a
IL-8
IL-12
A

Are secreted by macrophages

201
Q

Alesleukin

A

IL-2 analog for RCC, Melanoma

Activates NK cells to kill tumors

202
Q

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

A

Increased salmonella infections

Disseminated infection after BCG vaccine

203
Q

IL-4 class switching

204
Q

IL-5 class switching

205
Q

Catalase Positive: Notoriously Bubbling HASSLE

A 
Candida
Pseudomonas
Nocardia
B. Cepacia
H. Pylori
Aspergillus
Staphylococci
Serratia
Listeria
E. Coli
206
Q

CXCR4/CCR5 are coreceptors for HIV on which cells?

A

Helper T cells

207
Q

CD19, CD20, CD21, CD40

208
Q

CD14

A

Macrophages (receptor for PAMPs, eg, LPS)

209
Q

CD34

A

Hematopoietic stem cell

210
Q

Vi capsule

A

Salmonella typhi

Typhoid fever: rose spots on abdomen, constipation, abdominal pain, fever; later GI ulceration and hemorrhage.

211
Q

Vaccines for Clostridium tetani and Corynebacterium diphtheriae

A

Toxoid: Denatured bacterial toxin w/ an intact receptor binding site.

212
Q

SLE, Polyarteritis nodosa, PSGN

HSR reaction type?

213
Q

Acute hemolytic transfusion reaction
Example is ABO blood group incompatibility
HSR type?

214
Q

Anti-beta2 glycoprotein I

A

Antiphospholipid syndrome

215
Q

Anti-Scl-70 (anti-DNA topoisomerase I)

A

Scleroderma (diffuse)

216
Q

Anti-phospholipase A2 receptor

A

Primary membranous nephropathy

217
Q

Anti-glutamic acid decarboxylase

218
Q

Selective IgA deficiency can cause a false positive

A

bHCG pregnancy test

219
Q

Increased susceptibility to giardiasis

A

IgA deficiency

220
Q

Deficiency of Th17 cells due to STAT3 mutation

A

Job syndrome. Hyper-IgE.

Staph abscesses, baby teeth

221
Q

Decreased T-Cell receptor excision circles

222
Q

Defective CD40L on Th cells, X-linked recessive, opportunistic infection with pneumocystitis, cryptosporidium, CMV

A

Hyper-IgM. Bcells cant switch out of IgM

223
Q 
Male infant (x-linked recessive), 6 months, eczema, low platelets, recurrent infections. 
-Increased IgE, IgA, but decreased to normal IgG, IgM
A

Wiskott-Aldrich

224
Q

Drug given to lupus patients that reversibly inbibits IMP dehydrogenase, preventing purine synthesis of B and T cells

A

Mycophenolate Mofetil

225
Q

GM-CSF recombinant cytokine

A

SarGraMostim

226
Q

G-CSF recombinant cytokine

A

FilGrastim

227
Q

RomiPLoSTIM

A

TPO analog

228
Q

Eltrombopag

A

TPO receptor agonist

229
Q

IFN-B immunotherapy

A

Multiple Sclerosis

230
Q

Bevacizumab

231
Q

Alemtuzumab

A

CD52, which is anchored to GPI.

Treatment of CLL, MS

232
Q

Rituximab

233
Q

Eculizumab

A

Complement protein C5

Paroxysmal noctural hemoglobinuria

234
Q

Natalizumab

A

a4-integrin

Treatment of MS, Crohns

235
Q

Ustekinumab

A

IL-12, IL-23

Treatment of Psoriasis, Psoriatic arthritis

236
Q

Antiplatelet agent for prevention of ischemic complications in patients undergoing percutaneous coronary intervention that targets GpIIb/IIIa

237
Q

Drug that mimics osteoprotegerin in the treatment of osteoporosis

238
Q

Refractory allergic asthma drug

Prevents IgE binding to FceRI AKA high affinity IgE receptor

A

Omalizumab

239
Q

RSV prophylaxis for high risk infants

Targets RSV fusion protein (F)

A

Palvizumab

240
Q

Fas-FasL, TNF-a, perforin/granzyme B from cytotoxic T-cells, are all part of what apoptotic pathway

241
Q

Does coagulative necrosis have preserved cellular architecture?

A

Yes, but nuclei disappear. Increased eosin staining of cytoplasm will be seen

242
Q

Immune complex deposition (type III hsr) and/or plasma protein (eg fibrin) leakage from damaged vessel. Leads to what type of necrosis

243
Q

Area of heart most susceptible to ischemia

A

Subendocardium

244
Q

Why do you see fatty change in Kwashiorkor (protein deficient)?

A

Decreased apolipoprotein synthesis leads to inability to release fatty acids into circulation and the inability to process incoming lipids.

245
Q

Primary amyloidosis is which fibril protein

A

AL from Ig Light chains

246
Q

Secondary amyloidosis is which fibril protein

A

Serum Amyloid A (AA); seen in chronic inflammatory conditions

247
Q

What is cleaved from amyloid precursor protein (APP) in alzheimers patients

A

Beta amyloid

248
Q

Mutated transthyretin (ATTR) leads to familial amyloid cardiomyopathy featuring ventricular endomyocardium deposition. What type of cardiomyopathy

A

Restrictive

249
Q

Pyrogens (eg LPS) induce macrophages to release IL-1, TNF causing increased COX activity in which cells of the hypothalamus? What do they release

A

Perivascular cells. Release PGE2, which increases the temperature set point

250
Q

Ferritin, Fibrinogen, SAA, Hepcidin, C-reactive protein are all

A

Acute phase reactants that are positively upregulated

251
Q

How does hepcidin contribute to anemia of chronic disease

A

decreasses iron absorption by degrading ferroportin, and decreases iron release from macrophages—> both of these facts lead to AOCD

252
Q

Giant cell arteritis and polymyalgia rheumatica both increase which rate

A

Erythrocyte sedimentation rate

253
Q

Light criteria

A

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
Q

Deficiency of Sialyl Lewisx on PMNs

A

Leukocyte adhesion type II

255
Q

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?

A

GlyCAM-1, CD34 interact with the L-selectin on the leukocytes during margination and rolling

256
Q

Defective tight binding due to decreased CD18 integrin subunit

A

Leukocyte adhesion deficiency type 1

257
Q

During tight binding, ICAM-1 (CD 54) of the vessel binds to which integrins of the leukocyte?

A

CD11, CD18 integrins (LFA-1, Mac-1)

258
Q

During tight binding what does VCAM-1 (CD106) of the vessel wall bind to on the leukocyte?

A

VLA-4 integrin

259
Q

PECAM-1 (CD31) allows which process to occur with leukocytes

A

Diapedesis (transmigration)

260
Q

C5a, IL-8, LTB4, kallikrein, platelet-activating factor

A

Chemotactic factors

261
Q

When Th2s secrete IL-4, IL-13, what macrophage pathway are they activating

A

Alternative activation (repair and anti-inflammatory)

262
Q

FGF, TGF B, VEGF all stimulate something in common

A

Angiogenesis

263
Q

What mediator induces vascular remodeling, smooth muscle cell migration, and stimulates fibroblast growth for collagen synthesis?

A

PDGF, which is secreted by activated platelets and macrophages

264
Q

Epithelioid cell vs Multinucleated Giant cell

A

Epithelioid: activated macrophages w/ abundant pink cytoplasm
Multinucleated giant cell: formed by fusion of several activated macrophages

265
Q

What is the mechanism of Granulomatous inflammation*****

A
  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
Q

How doe tumor cells invade the bm?

A

Collagenases and hyrolases (metalloproteinases) and cell-cell contacts lost by inactivation of E-cadherin

267
Q

Disorganized overgrowth of tissues in their native locations

268
Q

Normal tissue in a foreign location such as gastric tissue in meckel diverticulum

A

Choristoma

269
Q

Stage of a cancer generally has…?

A

More prognostic value than grade

270
Q

Pembrolizumab and nivolumab are antibodies against what T cell receptor

A

PD-1

Helps avoid t-cell exhaustion via tumor cell

271
Q

Atezolizumab, duravulmab, avelumab are antibodies against what tumor ligand

A

PD-L1, help to prevent T-cell exhaustion via tumor cell

272
Q

Anti-CTLA-4 antibody which outcomes CD28 for B7 on APCs leading to loss of T-cell costimulatory signal (cancer immunotherapy)

A

Ipilimumab

273
Q

Blastic metz to bones usually come from which primary tumors

A

Prostate and small cell lung cancer

274
Q

Lytic metz to the bones usually come from what primary cancers

A

Thyroid, kidney, non-small cell lung cancer

275
Q

The receptor tyrosine kinase oncogene, ALK, is associated with adenocarcinoma of?

276
Q

BCL-2 oncogene is associated with which neoplasms

A

Follicular and diffuse large B Cell Lymphomas

277
Q

The serine/threonine kinase oncogene known as BRAF is associated with which neoplasms

A

Melanoma, non-hodgkin lymphoma, papillary thyroid carcinoma, hairy cell leukemia

278
Q

The GTPase oncogene known as KRAS is associated w/ which neoplasms

A

Colon cancer, lung cancer, pancreatic cancer

279
Q

The RET oncogene Receptor tyrosine Kinase is associated with which neoplasms/ disorders

A

MEN2A, MEN2B, papillary thyroid cancer

280
Q

Tumor suppressor that is negative regulator of B-catenin/WNT pathway associated w/ colorectal cancer (FAP specifically)

281
Q

Which product of the tumor suppressor gene, CDKN2A, is responsible for blocking G1 to S phase? What are associated neoplasms?

A

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
Q

Tumor suppressor that is a negative regulator of PI3k/AKT pathway, and if mutated leads to breast, prostate, and endometrial tumors

283
Q

SBLA LiFraumeni mnemonic

A

Sarcoma, Breast, Leukemia, Adrenal gland

284
Q

Transitional cell carcinoma of bladder

285
Q

2nd leading cause of lung cancer after cig smoke

286
Q

GFAP stain

A

Neuroglia (astrocytes, schwann cells, oligodendrocytes)

287
Q

TRAP stain

A

Hairy cell leukemia

288
Q

Pure red cell aplasia (anemia w/ low reticulocytes) and good syndrome (hypogammaglobulinemia) are paraneoplastic syndromes of what tumor

289
Q

Anti-NMDA receptor encephalitis

A

Ovarian teratoma

290
Q

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

A

Abs against purkinje cells

Paraneoplastic cerebellar degeneration

291
Q

Case-control study measures what?

A

Odds ratio

292
Q

Cohort study measures what?

A

Relative Risk

293
Q

Looks to see if odds of prior exposure or risk factor differ by disease state

A

Case-control

Which measures Odds Ratio

294
Q

Looks to see if exposure or risk factor is associated with later development of disease

A

Cohort study

which measures relative risk

295
Q

Compares the effect of a series of 2 or more treatments on a patient and allows participants to serve as their own controls

A

Crossover study

296
Q

Relative risk reduction, which is the proportion of risk reduction attributable to the intervention as compared to a control, can be calculated how

297
Q

The consistency and reproducibility of a test. The absence of random variation in a test.

A

Precision (reliability)

298
Q

The trueness of test measurements. The absence of systematic error or bias in a test.

A

Systematic error decreases accuracy in a test

299
Q

Early detection makes it seem like survival has increased but the diseases natural history has not changed

A

Lead-time bias

300
Q

A slowly progressive cancer is more likely detected by a screening test than a rapidly progressive cancer

A

Lenth-time bias

301
Q

Which measure of central tendency is most affected by outliers?

A

Mean= average

302
Q

Which measure of central tendency is least affected by outliers

A

Mode= most common value

303
Q

Standard error decreases as

A

Sample size (n) increases

304
Q

In a normal distribution, Mean=Median=Mode, what are the percentages associated with 1, 2, and 3 standard deviations

A

1=68% of data
2=95% of data
3=99.7% of data

305
Q

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

306
Q

If the 95% confidence interval for odds ratio or relative risk includes the value of 1, then?

A

The null hypothesis is not rejected

307
Q

If confidence intervals for two different groups dont overlap, then?

A

There is likely statistically significant difference between the groups

308
Q

Checks differences between means of TWO groups

309
Q

Checks differences between means of 3 or more groups

310
Q

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

A

Chi-square test

311
Q

Ethical duty to act in patient’s best interest

A

Beneficence

312
Q

To treat persons fairly and equitably (fair or impartial manner). This does not always imply equally, ie triage situations

313
Q

Disclosure, understanding (comprehension), capacity (ability to reason/make own choices), and voluntariness are all part of

A

Informed consent

314
Q

If a patient has not prepared an advance directive, what is order of surrogates?
“the spouse ChiPS”

A

spouse, adult Chi-ldren, Parents, Siblings, other relatives

Aa Shit You Don't Know (13 decks)

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