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Step1 > Shorter list of things > Flashcards

Shorter list of things Flashcards

1
Q

t 12;21

A

B cell ALL

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2
Q

t15:17

A

APML- all tranretinoic acid

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3
Q

t9;22

A

CML translocation of bcr abl

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4
Q

what does follicular enlargement of LN represent

A

RA and early HIV

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5
Q

what does paracortex enlargement of LN represent

A

viral infection

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6
Q

what does sinus histocytes enlargement of LN represent

A

LN draining tissue with cancer

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7
Q

t 14;18

A

it is the follicular lymphoma- the bcl2

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8
Q

t11:14

A

mantle lymphoma- it is a mistake in the cyclin D so it can go from G1 to S

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9
Q

t8;14

A

Burkitt lymphoma cmyc

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10
Q

can’t see out of one eye

A

lesion is at the optic tract

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11
Q

can only see the middle of the vision

A

lesion is at the optic chiasm and is a pituitary lesion or a craniopharyngeoma

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12
Q

can only see the left half of the vision (homonymous hemianopia)

A

lesion is in the optic tract

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13
Q

can’t see the top left quadrant of vision

A

lesion is in the Meyer loop of the right temporal lobe-MCA

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14
Q

can’t see lower left quadrant of vision

A

lesion of the right parietal lobe- MCA

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15
Q

left hemianopia with macular sparing

A

PCA infarct in the back of the brain

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16
Q

central scotoma

A

from macular degeneration

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17
Q

t 11:22 mutaton

A

Ewing sarcoma

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18
Q

what enzyme is deficient in McArdle disease

A

glycogen phosphorylase which takes 1-6 glycosidic bone to limited dextran

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19
Q

what enzyme is deficient in Pompe disease

A

acid alpha glucosidase

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20
Q

what enzyme is deficient in Cori disease

A

alpha 1-4 transferase and alpha 1-6 glucosidase

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21
Q

what enzyme is deficient in vonGierke disease

A

glucose 6 phosphatase which takes glucose 6P to glucose

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22
Q

what glycogen storage disease would have normal glucose levels, severe cardiomegaly, and glycogen accumulation in lysossomes- and what enzyme is deficient

A

Pompe disease- acid alpha glucosidase

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23
Q

what glycogen storage disease would have hepatomegaly, ketotic hypoglycemia, hypotonia, weakness, abnormal glycogen with very short outer chains and what enzyme is deficient

A

Cori disease- the deb ranching enzymes of alpha 1,6 and alpha 1,4 are deficient

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24
Q

what glycogen storage disorder would have muscle phosphorylase deficient, weakness, and fatigue with exercise, no rise in blood lactate levels after exercise- and what eznyme is deficient

A

McArdle disease and glycogen phosphorylase is deficient

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25
Q

what glycogen storage disease would have hepatomegaly, steatosis, fasting hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia- and what enzyme is deficient

A

von Gierke disease- from glucose-6 phosphatase

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26
Q

what level is the biceps reflex

A

C5

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27
Q

what level is the triceps reflex

A

C7

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28
Q

what level is the knee jerk reflex

A

L4

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29
Q

what level is the achilles reflex

A

S1

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30
Q

what is the cremaster reflex levels

A

L1,2

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31
Q

what is the anal wink reflex and what can be a cause of it going away

A

S3,S4 and it can be compromised by the cause equine syndrome

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32
Q

what would S1 radiculopathy present as

A

compression by disc herniation. Posterior thigh and calf lateral foot sensory. Weakness of thigh extension, knee flexion, plantar flexion, and absent ankle jerk

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33
Q

what is the L5 radiculopathy present as

A

weakness of dorsiflexion, version, foot eversion, toe extension but no absent reflexes

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34
Q

what lipid lowering drug has the mechanism of action of inhibiting the conversion of HMG-CoA to mevalonate, a cholesterol precursor

A

HMG-CoA reductase inhibitors- statins

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35
Q

what lipid lowering drug decreases the mortality rate in CAD patients

A

statins

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36
Q

what lipid lowering drug has the mechanism of action of preventing intestinal reapportion of bile acids the liver must use cholesterol to make more

A

Bile acid resins- cholestyramine, colestipol, and colesevelam

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37
Q

what are the bile acid resin drugs

A

cholestyramine, colestipol, and colesevelam

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38
Q

what lipid lowering drug has the mechanism of action of preventing cholesterol absorption at the small intestine brush border- prevent cholesterol absorption through the intestine

A

ezetimibe

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39
Q

what lipid lowering drug has the mechanism of action of activating a TF to induce HDL synthesis and up regulate LPL to increase the TG clearance. Blocks cholesterol 7alpha hydroxylate and decrease cholesterol synthesis

A

fibrates

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40
Q

what are the fibrates

A

gemfibrozil, bezafibrate, fenofibrate

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41
Q

what lipid lowering drug has the mechanism of action of inhibits lipolysis in adipose tissue and reduces hepatic VLDL

A

niacin

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42
Q

why does niacin cause flushing

A

from increased prostaglandins

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43
Q

what lipid lowering agent would you use for TAG pancreatitis

A

vibrates like gemfibrozil, bezafibrate, and fenofibrate

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44
Q

what does fish oil do to lower lipids

A

antagonizes VLDL

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45
Q

why are fibrates and statins contraindicated together

A

it is because the vibrates impair the hepatic clearance of statins so there are increased levels of the statins which cause myopathy

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46
Q

which lipid lowering went causes gall stones and why

A

fibrates cause gall stones because of the decreased synthesis of bile acids and the decreased synthesis of bile acids leads to increased cholesterol in the gall bladder and it is less soluble because then there are less bile acids

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47
Q

which lipid lowering agent can induce gout and why

A

niacin can induce gout because it reduces the clearance of uric acid from the kidney

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48
Q

what lipid lowering agent can increase LFT

A

ezetimibe

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49
Q

what lipid lowering agent decreases absorption of drugs and fat soluble vitamins and Gi upset

A

bile acid resins- cholestyramine, colestripol, and colesevelam

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50
Q

what lipid lowering drug increases LFTs, and can cause increase myopathy

A

HMG CoA reductase inhibitors

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51
Q

what lipid lowering drugs increases LDL receptor recycling which increases LDL clearance

A

HMG CoA reductase

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52
Q

what is the DNA repair mechanism that is defective in xeroderma pigmentosa

A

Nucleotide excision repair

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53
Q

how does nucleotide excision repair work?normally

A

defective endonuclease to remove the dimers. Specific endonucleases release the oligonucleotides containing damaged bases. DNA polymerase and ligase fill and reseal the gap. Repair bulky helix distoritng lesions

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54
Q

what phase of the cell cycle does nucleotide excision repair work on?

A

G1

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55
Q

how does base excision repair work?

A

base-specific glycol’s removes altered base and creates the apurinic/apyridimidine, and one of more nucleotides are removed by AP-endonuclease, which cleaves the 5 end. Lyase cleaves the 3 end. DNA polymerase Beta fills the gap, and DNA ligase seals it.

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56
Q

when does base excision repair occur

A

throughout the cell cycle

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57
Q

how does mismatch repair work

A

newly synthesized strand is recognized, mismatched nucleotides are removed and the gap is filled and resealed.

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58
Q

when does mismatch repair work

A

G2

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59
Q

what is non homologous end joining

A

brings together two ends of DNA fragments to repair double-stranded breaks. No requirement for homology.

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60
Q

what disorder has disordered non-homologous end joining

A

ataxia telangactasia and fanconi anemia

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61
Q

DNA/RNA protein synthesis direction

A

DNA and RNA are both synthesized in the 5-3 direction.

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62
Q

what are the start codons

A

AUG

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63
Q

what are the stop codons

A

UGA, UAA, UAG

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64
Q

which is the DNA polymerase with 5’-3’ activity

A

DNA polymerase I

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65
Q

what DNA polymerase has 5’-3’ synthesis capability and 3’-5’ exonucelase activity

A

DNA polymerase III

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66
Q

in eukaryotes, which polymerase makes the primer and starts it

A

DNA polymerase alpha

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67
Q

in eukaryotes, which polymerase is in charge of repair

A

DNA polymerase beta

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68
Q

in eukaryotes, which polymerase is in charge of the lagging strand

A

DNA polymerase delta

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69
Q

in eukaryotes which polymerase is in charge of the leading strand

A

DNA polymerase epsilon

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70
Q

in eukaryotes which polymerase is in charge of mitochondrial DNA

A

DNA polymerase gamma

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71
Q

what makes the RNA primer and is considered DNA dependent RNA polymerase

A

Primase

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72
Q

what is the other name for gyrase

A

topoisomerase II

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73
Q

what drugs block prokaryotic topoisomerase II and IV

A

fluoroquinolones

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74
Q

what drugs block eukaryotic topoisomerase II

A

etoposide and teniposide

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75
Q

what would a positive Tzanck smear show

A

multinucleated giant cells for HSV ulcer swabs

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76
Q

where are the scaphoid, lunate, and hamate

A

scaphoid is thumb side lunate is pinky side both are towards the radius and ulna. the hamate is articulate with the pinky above the pisiform and triquetrum, so it is diagnoal to the hamate.

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77
Q

what mutation causes cystic fibrosis

A

it is a deletion of phenylalanine at the F508 position and this disrupts the post-translational processing of the CF, and this makes the protein misfold so it is degraded through ubiquitination in the proteasome

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78
Q

what is the marker of infectivity in Hepatitis B

A

HbeAg

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79
Q

RNA polymerase I

A

rRNA

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80
Q

RNA polymerase II

A

mRNA

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81
Q

RNA polymerase III

A

tRNA

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82
Q

what anti fungal binds ergosterol and forms membrane pores that allow leakage of electrolyttes

A

amphoterecin B

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83
Q

what do you have to supplement with amphoterecin and why

A

Mg and K because it is nephrotoxic so you have to moniter

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84
Q

why does amphoterecin cause side effects

A

bind cholesterol some, which cause the side effects

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85
Q

what anti fungal binds ergosterol and forms pores that leak ions into the cell leading to lysis

A

nystatin

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86
Q

what is nystatin used for

A

swish and swallow for oral candidiasis and topical diaper rash and candidiasis

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87
Q

what antifingal inhibits DNA and RNA biosynthesis by conversion to 5-FU by cytosine deaminase

A

flucytosine

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88
Q

what is flucocytosine used for

A

systemic fungal infections in combination with amphoterecin B

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89
Q

what is the side effect flucocytosine

A

bone marrow suppression

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90
Q

what anti fungal stops ergosterol synthesis by inhibiting the cytochrome P450 system that converts lanosterol to ergosterol

A

azole

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91
Q

what are the use of the azoles

A

fluconazole is used for chronic suppression of cryptococcal meningitis and conduit. IRA is used for blast, cocciodes, and histoplasma

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92
Q

what are the adverse effects of ketoconazole

A

gynecomastia

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93
Q

what do the azoles to the P450 system

A

it inhibits it

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94
Q

what anti fungal inhibits the fungal enzyme squalene epoxidase

A

terbinaphine

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95
Q

what is terbinafine used for

A

it is used for dermatophytoses line onchomycocsis

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96
Q

what is the anti fungal with the MOA of stop fungal wall sythesis by decreasing the Beta d gluten synthesis

A

echinocandins that end in fungin

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97
Q

what do you use the echinocandins for

A

invasive aspergillosis and candida

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98
Q

what anti fungal inhibits microtubule function and disrupts mitosis

A

griseofulvin

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99
Q

what is griseofulvin used for

A

oral treatment of superficial infections, and it is used for dermatophytes

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100
Q

what does griseofulvin do the P450 system

A

it induces it

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101
Q

what is the most abundant AA in collagen

A

glycine

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102
Q

what is the vitamin C regulated step of collagen synthesis

A

hydroxylation reguires vitalin C and this is in the cytoplasm- this is the post-translation modification step

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103
Q

what parts of collagen sythesis are in the extracellular space

A

cleavage of the C and N terminals, and formation of cross links

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104
Q

what is the issue in collagen synthesis with OI and where does this step take place

A

the glycosilation step where the pro-a-chain hydroxylysine resumes and formation of pro collagen via hydrogen and disulfide bonds aka its a problem forming the triple helix which is in the cytosol

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105
Q

what is the issue in collagen synthesis with Ehlers Danlos and where does this step take place

A

it is a deficiency in the lysis oxidase which forms the bonds between tropocoagen or it is a deficiency in the pro collagen peptidase enzymes. This process is in the extracellular space

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106
Q

what is the issue in collagen synthesis with Menkes and where does this step take place

A

it is an X linked recessive CT tissue disease caused by impaired copper absorption and transport due to defective Mekes protein leading to the decreased activity of lysl oxides and copper is a necessary cofactor. Results are brittle kinky hair and growth retardation and hypotonia

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107
Q

what enzyme facilitates the cross linking of elastin in the extracellular matriz

A

it requries copper and it is lys oxidase

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108
Q

what is marfans a defect in

A

defective fibrin which coats the elastin

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109
Q

southern blot looks for

A

mutated DNA

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110
Q

what does a northern blot look for

A

MRNA levels reflective of gene expression

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111
Q

what does a western blot look for

A

increase gene transcription

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112
Q

what does a southwestern blot look for

A

DNA bingin proteins aka its looking for transcription factors

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113
Q

2 patients with NF1 have varying degrees of disease

A

variable expressivity

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114
Q

BRCA1 mutatiosn do not always result in cancer in everyone that has the gene

A

incomplete penetrance

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115
Q

untreated PKU results in light skin, intellectual disability, and musty odor- one gene does many things

A

pleiotropy

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116
Q

huntington seems to be getting worse with each generation

A

Anticipation

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117
Q

if there is just a mutation in one gene they don’t get cancer but if there is two mutations then they do

A

loss of heterozygosity

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118
Q

a heterozygote produces a nonfunctional altered protein that also prevents he normal gene product from functioning

A

dominant negative mutation

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119
Q

tendency for certain alleles at 2 linked loci to occur together more or less often than expected by chance

A

linkage disequalibirum- the hardy wienburg numbers will not equal zero

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120
Q

presence of genetically distinct likes in the same individual

A

mosaicism

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121
Q

mutation aries from mitotic errors after fertilization and propagation through multiple tissues and organs

A

somatic mosaicism

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122
Q

mutation is only in the egg and sperm

A

gondal mosaicism

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123
Q

mutations in different loci can produce a similar phenotype- different locus same phenotype

A

locus heterogenetiy

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124
Q

different mutations in the same locus produce the same phenotype

A

allelic heterogenity

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125
Q

presence of both normal and mutated tDNA, resulting in variable expression in mitochondrially inheritted disease

A

heteroplasmy- mitochondrial disease like less severe in the mom worse in the boy. Ragged red fibers. Passes through the mom exclusively

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126
Q

off spring receives 2 copies of th chromosome for the one parent and no copires from the other.

A

uniparental disomy- it is only visible if one parent is a carrier and it gives the kid the disease because they both come from them

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127
Q

what is the frequency of an XR disease

A

males=Q and females = Q2

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128
Q

what is the formula for carrier frequency

A

2squareroot(disease prevelance)

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129
Q

only one allele is active and the other is inctve and with one allele inactive, the deletion of the active allele leads to disease. Methylation turns on and off the disease

A

imprinting

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130
Q

what is prayer Willi from

A

some are maternal uniparental disomy and most are the paternal gene is deleted and mom is silent

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131
Q

what is angel man from

A

gene from dad is silent and mom is deleted or both are dad from uniparental disomy

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132
Q

what is the disorder and deficiency- small child with peripheral neuropathy, angiokeratomas, telangactasia, hypohidrosis (decreased sweating), and renal failure, and left ventricular hypertrophy, TIA, stroke

A

Fabry, defiecint alpha galactosidase A and build up ceramide trihexoside

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133
Q

what is the disorder and deficiency- hepatosplenomegaly, pancytopenia, osteoporosis, aseptic encores of the femur, bone crises, and lipid filled macrophages resembling crumpled paper

A

Gaucher- glucocerebrosidase and beta glucosidase

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134
Q

what is the disorder and deficiency- progressive eurodegeration with hypotonia, and lipid laden macrophages, cherry spot on the macula, death by the age of 3

A

niemann Pick- sphingomyelinase and build up sphingomyelin

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135
Q

what is the disorder and deficiency- progressive neurodegeneration, developmental delay, cherry red spot on the macula, onion skin and no hepatomegaly

A

Hexoaminidase A and GM2 ganglioside builds up in Tay Sachs disease

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136
Q

what is the disorder and deficiency- peripheral neuropathy, development delay, and optic atrophy, globoid called and seizures

A

Krabbe disease- galacetocerebrosidase and build up galactocerebroside pschosine

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137
Q

what is the disorder and deficiency- central and peripheral demylination with ataxia and dementia

A

Metachormatic leukodystriphy with a deficiency of arylsulfatase

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138
Q

what is the disorder and deficiency- developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

A

hurler syndrome- alpha L-iduronidase- AR

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139
Q

what is the disorder and deficiency- mold hurlerwiht aggressive behavior and no corneal clouding

A

deficiency in iduronate sulfate- Hunter syndrome- XR

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140
Q

widespread thrombosis of graft vessels and ischemia/necrosis grade must be removed- mottling and arterial fibrinoid necrosis cap thrombus

A

hyperacute reactions

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141
Q

what does hyper acute reactions happen

A

pre-existing recepient antibodies react to the donor antigen (HSN2), activate complement

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142
Q

vasculitis of graft vessels with dense interstitial lymphocytic infiltrate.

A

acute transplant reaction- weeks to months

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143
Q

what cells mediate the acute transplant

A

CD*+ T cells activated against the donor mHC and this is a type IV HSN. Antibodies develop after the transplant

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144
Q

receptient T cells react and secrete cytokines and this creates vascular smooth muscle proliferation, and parnchymal atrophy, and interstitial fibrosis, dominant feature is arteriolosclesis

A

chronic transplant reaction which takes years

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145
Q

what mediates the damage on the chronic transplant rejection

A

CD4 t cells respond to APC on the donor peptides like allogenic MHC. have characteristics of both II and IV HSN

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146
Q

what are the features of chronic lung rejection

A

bronchiolitis obliterans- destroy the small ariways and they narrow

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147
Q

what are the features of chronic heart rejection

A

accelerated atherosclerosis

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148
Q

what are the features of chronic kidney rejection

A

vasculate obliteration and increased HTN, Cr, and fibrosis and intimal thinking and mononuclear infiltrate leading to tubular atrophy and intersitial fibrosis

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149
Q

what are the features of chronic liver rejection

A

vanishing bile duct syndrome

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150
Q

maculopaular rash, jaundice, diarrhea, hepatosplenomegaly- what type of rejection

A

graft vs host disease

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151
Q

what mediated GVHD

A

grafted immunocomputent T cells proliferate in the immunocompromised host and reject host cells with foreign proteins

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152
Q

what type of HSN is GVHD

A

type IV HSN

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153
Q

what transplanted organs can cause GVHD

A

liver and bone marrow

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154
Q

calcinuerin inhibitor binds cyclophilin and blocks T cell activation preventing IL2 transcription which suppresses the early T cell response

A

cyclosporine

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155
Q

what are the side effects of cyclosporine

A

nephrotoxicity which has a narrow TI and gingival hyperplasia and hirsuitism

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156
Q

binds FK506 binding protein and blcoks T cell activation by preventing IL2 transcription

A

tacrolimus

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157
Q

what is the major side effect of tacrolimus

A

nephrotoxic hirsuitism, and gingival hyperplasia

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158
Q

mTOR inhibitor binds to FKBP and blcosk T cell activation and B cell differentiation by preventing response to IL2

A

sirolimus

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159
Q

why would you use sirolimus over tacro or cyclosporine and what are the side effects

A

it is good for kidney, but can cause pancytopenia and insulin resistance and hyperlipidemia- can also be used on stents

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160
Q

monoclonal antibodies that block IL-2R

A

saclizumab and basiliximab

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161
Q

inhibits lymphocyte proliferation by blocking nucleotide syntehsis- antimetabolite precursor of 6 mercaptopurine

A

azzthioprine

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162
Q

what are the side effects of azothioprine

A

is degraded by xanthine oxidase so it is increasing toxic if used with xanthine oxidase inhibitors

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163
Q

what are the side effects of azothioprine

A

leukopenia, nameia, thrombocytopenia

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164
Q

reversibly inhibits the IMP dehydrogenase preventing the purine synthesis of B and T cells

A

mycophenolate mofetil

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165
Q

what is use of mycophenolate motel assocaited with

A

GI upset and invasive CMV infection

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166
Q

inhibit NF-KB and suppress both B and T cell function by decreases the transcription of major cytokines and induce apoptosis of T lymphocytes

A

corticosteroids

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167
Q

what lab value is obscured by corticosteroids

A

neutrophils are higher in the blood because there is decreased margination.

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168
Q

recurrent bacterial and enteroviral infections after six months- giardia infections and encapsulated infections- what is the disease and defect

A

defect in BTK gene which is a tyrosine kinase gene so no B cell maturaion and it is X linked recessive- Bruton aggammaglobulinemia- absence of B cell germinal centers and no IgG or B cells so low CD20 and low CD19

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169
Q

majority are asptomayic but have GI and airway infection and autoimmune issues- atopy and have anaphylaxis when there are blood products given- patient has celiac, recurrent sinopulmonary infections and giardia- what is the disease and defect

A

selective IgA deficieny- decreased IgA - anaphylaxis from lack of washed red blood cell products

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170
Q

defect in B cell differentiation in the 20-30s and increase risk of autoimmune disease, broncheistasis, lymphoma, and sinopulmonary infectiosn- what is the disease and defect

A

common variable immunodeficiencty- decreased plasma cells, immunoglobulins- defect in B cell differntiation

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171
Q

tetany, recurrent viral/fungal infetions, conotruncal abnormalities- what is the disease and defect

A

thymic aplasia- 22q11 deletion- decreased T cells decreased PTH, absent thyme shadow on CXR

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172
Q

disseminated mycobacterial infections and fungal infections may present after BCG vaccination- what is the disease and defect

A

IL-12 receptor deficienct- macrophage infected wit hTB and secretes IL12 and cannot secrete IFNgamma- AR so decreased TH1 response

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173
Q

coarse face, cold staph abscesses, retained primary teeth, increased IgE, and dermatologic problems- what is the disease and defect

A

autosomal dominat hyper-IgE syndrome- increased IgE and decreased IFN gamma. deficiency of Th17 cells due to STAT3 mutation, impaired recruitment of neutrophils to the sites of infection

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174
Q

noninvasive candida albincans of the skin and mucosa membranes– what is the disease and defect

A

chronic mucocutaneous candidiasis- T cell dysfunction. Absent T cell proliferation in the face of candida skin test

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175
Q

failure to thrive, chronic diarrhea, thrush, recurrent viral, bacterial ,fungal and protozoal infections like PJP, and absent thymus- what is the disease and defect

A

SCId- defective IL2R gamma chain and adenosine deaminase deficiency- decreased T cell receptor excision vehicles- lymphopenia, and hypogammaglobulinemia

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176
Q

cerebellar defects, atazia, spider angiomas, telangaiectasia, IgA deficiency- what is the disease and defect

A

increased AFP, and decreased IgA, IgG, and IgE, and lymphopenia and cerebellar atrophy- defects in ATM gene so cannot repair double stranded DNA breaks

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177
Q

severe pyogenic infections early in life- pneumocystis, cryptosporidium, and CMV– what is the disease and defect

A

increased IgM and decrease all others, due to defective CD40 L on Th cells and class switching defect XR- hyper IgM

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178
Q

thrombocytopenia, eczema, recurrent infections and increased risk of autoimmune - what is the disease and defect

A

mutation in WAS gene- T cells can’t reorganize actin skeleton

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179
Q

recurrent bacterial skin and mucosal infections- absent pus formation, delayed wound healing, and delayed separation of the umbilical cord- what is the disease and defect

A

leukocyte adhesion deficiency- defect in LFA-1 intergrin CD18 proetin on phagocytes, imparied migration and chemotaxis AR- absecense of neurtrophils in the infection site

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180
Q

recurrent pygenic infections by staphylococci and streptococci, partial albinsim, peripheral neuropathy, progressive neurodegeneratio, infiltrative lymphohistocytosis- what is the disease and defect

A

Chediak-Higashi syndrome- defect in lysosomal trafficking regulator gene, microtubules dysfunction in phagolysosome fusion and AR- giant granules

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181
Q

increased catalase positive organism infections with abnormal nitroblue test and abnormal dihydrorhodamine test

A

chronic granulomatosis dissease- defective NAPDH oxidase

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182
Q

what is the congenital infection causing arthritis in the mom and then sensorineural deafness in the child and cataracts and PDA

A

rubella- togavirus

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183
Q

Cough coryza, conjunctivitis

A

rubeola-measles

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184
Q

what has hemagluttin besides influenza

A

measles

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185
Q

what bacteria is optochin resistant or bile acid soluble

A

strep viridans

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186
Q

what bacteria is optochin sensitive and bille acid soluble

A

strep pneumoniae

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187
Q

bacitracin sensitive and PYR sensitive

A

strep pyogenes

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188
Q

bactracin resistant and PYR resistant

A

strep agalactiae

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189
Q

coagulase positive

A

staph aureus

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190
Q

coagulase negative

A

staph saprophyticus, staph epidermidis

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191
Q

novobiocin sensitive and coagulase negative

A

staph epidermidis

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192
Q

novobiocin restant and coag negative

A

staph saprophyticus

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193
Q

what does protein A do for staph aureus

A

it cleaves the FcIgG at the complement binding site to decrease the C3b and other complement levels

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194
Q

what is the normal nondisjunction pattern for Down Syndrome

A

Meiosis I

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195
Q

contracted scar on MI- when was this MI and what are the associated complications

A

2 weeks to several months- Dresselr synsrome, HF, arrthymias, true ventricular aneurysm risk of mural thrombsis

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196
Q

extensive coagulative necrosis and striations. Tissue surrounding infarct shows acute inflammation with neutrophils- when was this MI and what are the associated complications

A

1-3 days- post infarction fibrosis pericarditis

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197
Q

no change after MI

A

0-4 hours

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198
Q

myocyte hypereosinophilia with pyknotic nucleiI- when was this MI and what are the associated complications

A

12-24 hours- ventricular arrhythmia nd cariogenic shock

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199
Q

why does reperfusion injury occur

A

it is because of the generation of free radicals leads to hyper contraction of myofibrils through increased free calcium influx and the free radicals cause membrane lipid peroxidation

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200
Q

wavy myocardial fibers and long myocardium I- when was this MI and what are the associated complications

A

4-12 hours after MI and cariogenic shock and arrhythmias

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201
Q

disintegration of dead neutrophil and myofibers with macrophages at the edgesI- when was this MI and what are the associated complications

A

3-7 days and free walk rupture leading to tamponade, mitral regard from papillary muscle rupture, inter ventricular septal rupture, and LV pseudoaneurysm

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202
Q

robust phagocytosis and granulation tissue with yellow dot lesionI- when was this MI and what are the associated complications

A

7-10 days after MI free walk rupture leading to tamponade, mitral regard from papillary muscle rupture, inter ventricular septal rupture, and LV pseudoaneurysm

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203
Q

granulomatous lesion and neovascularization- when was this MI and what are the associated complications

A

10-14 days free walk rupture leading to tamponade, mitral regard from papillary muscle rupture, inter ventricular septal rupture, and LV pseudoaneurysm

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204
Q

which is the insulin dependent glucose transporter

A

GLUT4

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205
Q

what is the RBC, brain corner, glut transporter

A

GLUT1

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206
Q

what glut transporter is on beta islet cells and liver kidney and small intestine

A

GLUT 2

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207
Q

what glut transporter is on the brain and placenta

A

GLUT3

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208
Q

what glut transporter is for fructorse

A

GLUT5

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209
Q

where does insulin bind

A

internal tyrosine kinase inhibitor

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210
Q

what uses the JAK state pathway

A

Gh, epo, and interferon attenuate the JAD state

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211
Q

what does epidermal growth factor work through

A

transmembrane recpetors that have internal tyrosine kinase fdomaines

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212
Q

what do TSH, glucagon and PTH act throguh

A

protien kinase A.Gs receptor

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213
Q

how does glucagon act

A

it acts through Gs and it increases cAMP and acts on protein kinase A which phosphorylates serine/threonine residues to activate or deactivate it

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214
Q

what shoulder muscle does abduction

A

supraspinatus

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215
Q

what shoulder muscle laterally rotates the arm- external rotation

A

infraspinatus and teres minor

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216
Q

what muscle laterally rotates the arm and adducts it

A

teres minor

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217
Q

what muscle adducts and internally rotates the arm

A

subscapularis

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218
Q

fracture of the surgical neck of the humerus

A

axillary necer injury with the circumflex artery- has flat deltoid and loss of sensation of the deltoid

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219
Q

pitching injury- loss of forearm flexion and supination and decreased sensation over lateral arm

A

musculocutaneous nerve

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220
Q

midshaft fracture of the humerus compression of the axilla on the chair or crutches.

A

radial nerve injury- loss of wrist extension, and decreased grip strength lose sensation over the posterior part of the arm

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221
Q

supracondylar fracture of the humerus, carpal tunnel syndrome and wrist laceration

A

median nerve- loss of wrist flexion, flexion of lateral fingers, thumb opposition, lumbricals of 2-3 digits, and loss of sensation over thinner eminence and dorsal and palmar aspects of lateral 3 fingers and proximal lesion

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222
Q

fracture of medial epicondyle of humerus fractured hamate

A

ulnar nerve- radial deviation of the wrist upon flexion. loss of wrist flexion, flexion of medial fibers, no abduction of the fingers and loss of sensation over the medial fingers

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223
Q

superficial laceration of the palm

A

recurrent branch of the median nerve- loss of some thumb stuff

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224
Q

lateral traction on neck during delivery and adult trauma

A

abduction, lateral rotation, felxion, supination is the deficiet- upper roots so waiters tip hand

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225
Q

infants upwards force on arm during delivery, and trauma of grabbing tree branch

A

lower C8-T1- total claw hand with lumbricals are normal

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226
Q

lower trunk and subclavian vessels- repetitive overhead, cervical rib\, pan coast tumor

A

atrophy of hand muscles and ischemia and pain and edema from vascular compression

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227
Q

winged scapular- pushed on wall, mastectomy and serrates anterior

A

C5-C7- at the 4-5 midaxillary line- inability to anchor scapula to thoracic, cage- abduct arm above horizonal

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228
Q

hip surgery injury

A

obturatory nerve- decreased adduction, and medial thigh sensation

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229
Q

pelvic fracture

A

femoral nerve- can be compressed by posts tumor- thigh flexion and leg extension

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230
Q

trauma to the fibular neck or compression of lateral aspect of the leg

A

common peroneal- stoppage gate and lose dorsal feelsing on the foot and ut everts

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231
Q

knee trauma, baker cyst tarsal tunnel syndrome, penetrating wound ot the back of the knee

A

tibial- inability to curl toes and loss of sensation to the sole of the foot. foot everted from loss of eversion and plantar flexion (plantar flexion is pointing)

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232
Q

iatrogenic injury during intramuscular injection to upper medial gluteal region

A

superior gluteal- trendelenburg sign/gait- drop hip is good side

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233
Q

posterior hip dislocation

A

inferior gluteal- difficulty climning stairs and rising from chairs

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234
Q

osmotic diuretic that is used for increased intracranial pressure or intraocular pressure

A

mannitol

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235
Q

what is the adverse effects of mannitol

A

pulmonary edema, dehydration, and anuria, HF

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236
Q

what is the MOA of acetazolamide, adverse effects and clinical use

A

carbonic anhyrdase inhibitor- self limited diuresis decreases bicarb. used for glaucoma, alkinize the urine, metabolic alkalosis, altitude sickness, pseudo tumor cerebra- closed glaucoma

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237
Q

what is the MOA of furosemide, bumetanide, torseomide, adverse effects and clinical use

A

inhibit cotransport system Na/Cl/K- thick ascending limb of loop abolish hypertonicit of medulla preventing concentration of the urine. stimulate PGE release and vasodilation- increased Ca excretion. ototoxic and hypokalemia, allergy sulfa, metabolic alkalosis, nepotist and gout

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238
Q

what is the MOA of ethacrynic, adverse effects and clinical use

A

loop for people with sulfa allergy more ototoxic

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239
Q

what is the MOA of HCTZ, chrolathalodone, metalazone, imatompaide adverse effects and clinical use

A

inhibit NaCl in the reabsorption in early DCT, and decreased dilution of the nephron and decreased Ca excretion. HTN essential. use in nDI. decreased K, metabolic alkalosis, decreased Na, hyperglycemia, hyperlipidemia, hyperuricemia, and hypercalcemia, and sulfa allergy.

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240
Q

what are the blood panel for HCTZ like

A

increased Ca, uric acid, increased glucose, increased cholesterol, increase Tg, decrease Na, and decreased K, and decreased Mg

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241
Q

what is the MOA of spirolactone, epleronone, triametrene, amiloride, adverse effects and clinical use

A

aldosterone receptor antagonist and it is in the CT. Triametrene and amiloride act ads the same part of the tubule. Used for hepatic accused. Hyperkalmia can lead to arrhythmias, endocrine effects with spiroclactone and gynecomastia anti androgen

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242
Q

what is amiloride specifically used for

A

nDI

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243
Q

what is spirolactone used for

A

hepatic ascites

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244
Q

what are the class IA

A

quinidine, procainamide, disopyramide,

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245
Q

what is the MOA of class IA

A

increased AP duration, increased effective refractory period, increased QT interval

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246
Q

what are the side effects of class IA

A

cinchonism (headache, tinnitus), reversible SLE, heart failure, tornadoes, increase QT, thrombocytopenia

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247
Q

which class IA antiarryhtmic SLE syndrome

A

procainamide

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248
Q

which class IA antiarrthymic heart failure

A

disopyramide

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249
Q

what are the class IB

A

lidocaine, mexiletine

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250
Q

what are the class IB MOA

A

decreased AP duration, affection ischemic or depolarized Purkinje and ventricular issue.

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251
Q

what are the class IB adverse effects

A

CNS stimualtion and depression, cardiac depression

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252
Q

what is the use of class IB anti-arrythmics

A

used for post MI because they are weak binding and preferentially target the ischemic tissue

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253
Q

what ar the class IC antiarrythmics

A

flecainide, propafenone

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254
Q

what is the MOA for class IC antiarryhtmics

A

strongest binding to terminate tach abd ut us ERP and AV node. minimal effect of AP duration

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255
Q

what are class IC adverse effects

A

proarryhtmic, especially post MI

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256
Q

what is the MOA of beta blocker antiarryhtmics

A

decrease SA and aV nodal action by decreasing cAMP and decreasing Ca currently . they suppress the abnormal pacemakers by decreasing the slope of phase 4

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257
Q

adverse effects of beta blockers as anti-arryhtmics

A

it is impotence, COPD exacerbation, cardiovascular effects of bradycardia, AC block, HFF, sedation, mask hypoglycemia

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258
Q

what beta blocker can exacerbate prinzemetal angia

A

it is propanolol

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259
Q

what is the treatment for beta blcoker

A

glucagon, saline, atropine

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260
Q

what are the class III anti-arryhtmics

A

amiodarone, ibutilide, dofetilide, sotalol

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261
Q

what are the mechanism of class III antiarryhtmics

A

it is a k channel blocker so it has increased a fib, atrial fluteer, and ventricular tachycardia

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262
Q

what are the adverse effect of to stall and ibutilide

A

torsades

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263
Q

what are adverse effects of amiodorone

A

pulmonary dibrosis, hepatotoxic, hypothyroid/hyperthyroid, it can cause corneal deposits, grey skin, photdermatitis, brady cardia, heart block, can cause destructive thyroiditis

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264
Q

what are the antibodies for ITP

A

anti-GpIIb/IIIA antibodes with splenic macrophage of the antigen, antibody complexes from viral illness

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265
Q

what is the antibody in TTP

A

it is inhibition of ADAMSTS13 and this leads to decreased degradation of vWF muleteers and this leads to increased platelet adhesion and increased platelet aggregation and thrombosis. schisotxytes and increased LDH- pentad of fever, thrombocytopmenia nand microangiopathic hemolytic anemia

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266
Q

what is the fibrinogen level with DIC

A

it is decreased

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267
Q

night sweats, fever, weight loss, and associated with EBV, bimodal distribution- localized to a single group of nodes- RS cells

A

Hodgekin Lymphoma

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268
Q

what is the most predictive of the prognosis of the hodgkin lymphoma

A

it is staging

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269
Q

what are the markers on RS cells

A

CD15 and CD30

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270
Q

starry sky appearance, sheet of lymphocytes with interspersed body macrophages

A

burkitt lymphoma with activating myc mutation- 8;14

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271
Q

where is the endemic form of Burkitt located

A

jaw

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272
Q

where is the sporadic form of Burkitt in the body

A

it is in the abdomen

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273
Q

what is the most common type of non-hodgkin lymphoma in adults

A

it is diffuse large B cell lymphoma

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274
Q

painless waxing and waning lymphadenopathy with follicles and small cleaveed cells, large cells, and mixture

A

follocular lymphoma- 14;18

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275
Q

very aggressive with late-stage disease lymphoma- adult male

A

mantle cell0 11;14 and D cyclin heavy chain Ig

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276
Q

AIDs defining illness with confusion, memory loss, seizures- mass lesion on MRI can look similar to toxoplasmosis

A

primary CNS lymphoma

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277
Q

adults with cuteness lesions from Japan, west Africa, Caribbean, lytic bone lesions, hypercalcimia associated with HTLV and IV drug abuse

A

adult T cell lymphoma

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278
Q

myocsis fungoides present with skin patches and plaques and cutaneous with atypical CD4 cells and cribriform nuclei may go to Sezary

A

myocosis fungoides and Sezary

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279
Q

children with mediastinal with SVC like syndrome. Associated with down syndrome, and increased peripheral blood and bone marrow lymphoblasts. TDT positive marker and CD10 positive. 12;21

A

acute lymphoblastic leukemia/lymphoma

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280
Q

age>60 most markers are Cd20, Cd5 B cell neoplasm. Asymptomatic progress to smudge cells with autoimmune hemolytic anemia.

A

chronci lymphocytic leukemia/small cell

small cell can go to diffuse large B cell lymphoma

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281
Q

adule male with a dry tap on aspiration and massive splenomegaly- pancytopenia and TRAP positive

A

hairy cell leukemia- mature B cell tumor with fuzzy cells and TRAP+

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282
Q

persistnt infection, coagulopathy, hemorrhage, auer rods in BM, and DIC and decreased fibrinogen- patient is around 65 years old

A

AML t15;17-

283
Q

what are the risk factors for AML

A

alkylating chemotherapy, radiation, myeloproliferativve disorders and down syndrome

284
Q

what can you treat AML with

A

all transretionic acid if there is the APL subtype with the t15;17

285
Q

peak around 64 years off and has the t9;22- myeloid stem cell proliferation, and dysregulated production of mature and maturing granulocytes like neutrophils, metamyelocytes, myelocytes, basophils, and splemomegaly, and very low LAP

A

CML

286
Q

what is the medical treatment for CML

A

bcr-abl tyrosine kinase inhibitors like imatinib

287
Q

what is the hormone levels for Klinefelters

A

increased LH and increased FSH and decreased T but high estrogen. The dysgenesis of the seminiferous tubules decreases the inhibit B and increased FSH, and Leydig cells decrease T and increase LH and increased estrogen

288
Q

what is the hormone profile for Turner Syndrome

A

increased LH and FSH and decreased estrogen

289
Q

inability to synthesize estrogens form androgens so masculinization of female infants, increased testosterone and androsteindione, and presents with maternal virilization

A

placental aromatase deficiency

290
Q

normal appearing female with female external genitalia and scant sexual hair, and rudimentary vagina, uterus, and fallopian tubes are absent. Normal testes are in the labia

A

androgen insensitivty syndrome

291
Q

AR and inability to convert testosterone to DHt and ambigous genitalia until puberty then becomes virilized- Lh is normal to increased and T is noraml

A

5alpha reductase deficiency

292
Q

hypogonadotropic hypogonasdism. defective migration of GnRH cells and formation of the olfactory bulb. decreased synthesis of GNRH in the hypothalamus and anosmia, and decreased GNRH, FSH, LH, T infertility and amenorrhea. can have cleft lip and plate

A

Kallaman syndrome

293
Q

what is the path of LH and FSh in the ovary

A

the LH stimulates the theca internal cells and this causes cholesterol to androgens by desomolase and the androgens diffuse to the granulosa cells and the granulosa cells turn the androgens to estrogen by aromatase

294
Q

what is the path of LH and FSH in the teste

A

the SRY gene makes testis determining factor and testes, and it causes the sertoli cells to secrete mullein inhibitory factor and this degenerates the paramesonephric ducts which is the female internal genitalia. The Testis determining factor hits the Leydig cells and the Leydig cells secrete Testosterone and this causes the wolfing duct to form the internal genitalia besides the prostate. and this Testosterone is turned into DHT by aromatase and the genital tuberclee and urogenital sinus are turned into the male external genitalia and prostate by the DHT

295
Q

vomiting, vertigo, nystagmus, decreased pain and temperature from the ipsilateral side of the face and contralateral side of the boy. dysphagia and hoarseness and decreased gag reflex and ipsilateral horner syndrome, and ataxia, dysmetria- where is the lesion and what is the artery

A

Lateral medullary syndrome- PICA which is off the vertebral artery

296
Q

dysphagia, dystonia, dysarthria, contralateral spastic hemiparesis and CN III so the eye is down and out- where is the lesion and what is the artery

A

Weber syndrome which is the anterior midbrain infarct from occlusion of paramedic branches of the posterior cerebral artery

297
Q

contralateral paralysis and sensory loss of the lower limb can have some urinary incontinence- where is the lesion and what is the artery

A

it is in the anterior cerebral artery

298
Q

contralateral paralysis and sensory loss and face and body- absence of cortical signs- in the middle towards the basal ganglia and it causes a midline shift

A

lenticulostriate artery

299
Q

what artery is infarcted for the preserved consciousness, vertical eye movement, blinking, quadripledia, loss of voluntary facial mouth and tongue- locked in

A

basilar artery

300
Q

what artery infarct causes contralateral hemianopia with macular sparing

A

posterior cerebral artery

301
Q

what artery is infarcted if there is contralateral parestheisas and numbers of the legs and trunk and can’t recognize faces

A

psoterior cerebellar

302
Q

vominting, vertigo nystagmus, paralysis of the face, decreased lacrimation, decreased salvation, and decreased laste from the back of the tongue, loss of pain and temperature of the face ipsilateral, and contralateral pain and temperature of the body, ataxia and dysmetria

A

AICA lesions from lateral pontine lesion

303
Q

what passes through the jugular foramen

A

IX,X, VI so loss of posterior take, dysphagia, and SCM issue

304
Q

what passes through the superior orbiatal fissure

A

C1, IV, III, VI

305
Q

what can cause bells palsy

A

lyme, isiopathy, HSV, AIDs, sarcoid, tumor, DM

306
Q

what is the order of the cavernous sinus nerves along the side

A

III, IV, VI(beside the artery), V1, V2

307
Q

what is the lesion for full one eye loss of vision

A

loss of optic nerve

308
Q

bitemporal hemianopia

A

pituitary lesion that is at the optic chiasm

309
Q

what is left homonymous hemianopia (only have left halves of the vision)

A

it is from a lesion of the optic tract which can be aneurysm of the carotid

310
Q

what is left upper quadrant anopia

A

right temporal lesion

311
Q

what is left lower quadrant anopia

A

right partial lesion

312
Q

left hemianopia with macular sparing- los left side of the vision but have the middle spared

A

PCA infarct

313
Q

central scotoma

A

macular degeneration

314
Q

where does Meyers loop run

A

through the temporal lobe

315
Q

diabetic CNIII damage

A

it has acute diplopia and down and out from ischemic damage at the core with outside spared so pupil reaction and size is normal

316
Q

compression of CNIII damage

A

peripheral is hit first so you get loss of reactivity first

317
Q

what does vitamin A do

A

it is the antioxidant and essential for normal differentiation of epithelial cells into specialized tissue like pancreatic cells prevents the squamous metaplasia

318
Q

what is vitamin A used to treat

A

measles and AML M3

319
Q

night blindness, dry scaly skin, corneal degeneration, and bitot spots on conjunctia and immunosuppression

A

vitamin A

320
Q

what are the symptoms of acute toxic vitamin A

A

nausea, committing, vertigo and blurred vision

321
Q

what are the symptoms of chronic toxic vitamin A

A

alopecia, dry skin, hepatic toxin, enlargement arthralgiasn ad psudotumor cerebri

322
Q

what reactions use B1 or thiamine

A

pyruvate dehydrogenase, alpha ketoglutarate dehydrogenas,e trankeloase, branche chain ketoacid dehydrogenase

323
Q

dry beriberi

A

polyneutrisi, symmetrical muscle wasting

324
Q

wet beriberi

A

high output cardiac failure, dilated cardiomyopathy, edema

325
Q

werknicke korsakoff syndrome

A

confsions, opthalmoplegia, atazia, and confabulation, personalilty change, memroy loss from mamarrary body destruction

326
Q

what reaction use B2 or riboflavin

A

FAD and FMN are used for succinate dehydrogenase

327
Q

what is the deficiency- chelosis inflammation of the issues are corners of mouth and corneal vascularization

A

B2 riboflavin

328
Q

what reactions use niacin

A

constituent of NAD+and Nadh reactions and so its synthesis requires B2 and B6. used t treat high colesterol

329
Q

glossitis, diarrhea, dementia, dermatitis, hyper pigmentation of sun exposed limbs

A

Pellagra- niacin deficiency

330
Q

what is niacin derived from

A

tryptophan

331
Q

Hartnup disase

A

deficiency of amino acid transporters that are in the PCT and enterocytes so decreased tryptophan conversion to niacin from the diet

332
Q

what are the symptoms of excess niacin

A

it is flushing from prostaglandin can be avoided by taking aspirin. also get hyperglycemia and hyperuricemia

333
Q

what is the function of B5 panothenic acid

A

component of Coenzyme A and Coa for cofactor for acyl transfers and fatty acid synthase

334
Q

dermatitis, enteritits, alopecia, adrenal insufficiency- deficiency of what

A

deficiency in B5

335
Q

what is the function of pyridoxine B6

A

converted to pyridoxal phosphate used for transamination reactions ALT and aST and decaroboxylation reaction glycogen phosphorylase. Synthesis of cystathione, heme, niacin, histamine, neurotransmitters like serotonin, epinephrine, NE, dopamine, GABA- example reaction would be oxaloacetate to aspartate

336
Q

convulsions, hyperirritability, peripheral neuroptathy, siderobalstic anemia from impairs hemoglobin synthesis and iron excess- deficiency of what and what can cause it

A

B6 pyridoxine and isoniazid and oral contraceptives

337
Q

what reactions use B7 biotin

A

cofactors for carboxylation reactions like pyruvate carboxylase purvate to oxaloacetate, acetyl Coa carboxylase and acetyl coa to malonyl coa, propinoyl coa carboxylase and propinolyl coa to methylmalonyl Coa

338
Q

dermatitis, alopecia, enteritis, and metabolic acidosis-deficiency of what and what can cause it

A

caused by antibiotic use, excessive ingestion of raw egg whites

339
Q

what reactions use B9/folate

A

converted to THF a coenzyme for 1 carbon tranfer/methylation reactions. Important for synthesis of nitrogenous bases in DNA and RNA

340
Q

where is folate absorbed

A

jejunum

341
Q

macrocytic anemia of alcoholics or pregnant with PMNS, and increased homocysteine but normal methylmalonic acid levels

A

folic acid deficiency

342
Q

what drugs can cause folate deficiency

A

phenytoin, sulfonamides, methotrexate

343
Q

what is the function of B12

A

cofactor for methionine synthase tankers Ch3 to methamoul coa

344
Q

macrocytic megalobalastic anemia, PMN, parasthesias, subacute combined degeneration of corticospinal tracts, spinocerebellar tracts due to abrnoaml myelin increased homocysteine and methylmalonic acid increass

A

B12 deficiency

345
Q

what is b12 synthesized by and for how long

A

it is from the microorganism there is a large pool in the liver. Malabortion like sprue, enteritis, diphyllobaothrium, and lack of intrinsic factor from pernicious anemia or gastric bypass with abescence of terminal ileum like surface resection from Corns, insufficient inmate from vegans

346
Q

what is the function of vitamin C

A

it is an antioxidant that facilitates iron absorption by reducing it to Fe state. Necessary for hydroxylation of proline and lysine in collagen synthesis. Necessary for dopamine Beta hydroxylate and converts dopamine to Ne

347
Q

swollen gyms, bruising, petechiae, hemarthrosis, anemia, poor wound healing, perifollicular and subperiosteal hemorrhages, corkscrew hair weak immune system

A

vitamin C deficiency

348
Q

nausea, vomiting, diarrhea, fatigue, Ca oxalate nephrolithiasis, increased risk of iron toxicity

A

vitamin C excess

349
Q

whats the function of vitamin D

A

it increases intestinal absopriton of calcium and phosphate and increased bone mineralization at low levels and bone respiration at higher levels

350
Q

what is the function of vitamin E or tocopherol/tocotrienol

A

antioxidant that protects RBCSand membranes from free radical damage

351
Q

hemolytic anemia, aconthocytosis, muscle weakness, posterior collumn and spinocelerbellar degeneration but no megaloblastic anemia

A

vitamin E deficiency

352
Q

what is the function of vitamin K

A

it is cofactor for the gamma carboxylation of glutamic acid residues on various proteins required for blood clottign

353
Q

where is vitamin K synthesized

A

intestinal flora

354
Q

what clotting factors require vitamin K

A

II,VII,IX,X,protein C and protein S

355
Q

neonatal hemorrhage with increased PT and increase PTT but normal bleeding time

A

neonates cannot synthesize vitamin K and can occur with long term broad spectrum and from terminal ileum like crohsn

356
Q

why do babies get vitamin K deficiency

A

it is because there is no vitamin K in breast milk and their guts are sterile

357
Q

what is the function of zinc

A

it is a mineral essential for lots of enzymes and the zinc finger

358
Q

what is zinc def cause

A

it accuses delayed wound healing, hypogonadism, decreased adult hair, dysgerusia, anosmia and acrodermatitis- predispsositon to alcoholic cirrhosis

359
Q

what is the difference between kwashiorkor and marasmus

A

kwashiorkor is protein malnutrition and marasmus is total starvation

360
Q

what are the long acting insulins

A

glargin and deremir

361
Q

what are the rapid insulins

A

apart, lisper, glulisine

362
Q

what is the mOA of metformin

A

decreased gluconeogenesis, increased glycolysis, increased peripheral glucose uptake

363
Q

what are the SE of metformin

A

GI upst, lactic acidosis so contraindicated in renal failure

364
Q

what are the first generation and second generation sulfonylureas

A

first gen- cholpropamide, tolbutamide

second gen- glimepride, glipizide, glyburide- the second genration tesnds to be longer acting so increased hypoglycemia

365
Q

what is the MOA of sulfonylureas

A

close the K channel in the B cell to depolarizes cell and insulin release via increased CA influx so increased insulin release

366
Q

what are the major side effects of sulfonylureas

A

hypoglycemia when working out increased in renal failure and fatigue, and also increased with disulfiram reactions in first generation. the second generation have higher risk of hypoglycemia

367
Q

what is the mechanism of action of glitazone

A

increased insulin sensitivity in peripheral tissue because it binds the PPAr gamma and upregualtes the GLUt 4 and adiponectin

368
Q

what are the side effects of glitazones

A

it is fluid rendition form the increase Na reabostion and can lead to increased adipose and exacerbation of HF

369
Q

what is the MOA of the meglitidines, glinides

A

it is to stimulate postprandial insulin release by binding K channels on the beta cell membanresns work at membrane ion channels

370
Q

what are the major side effects of glinides

A

weight gain and hypoglycemia

371
Q

exanatide and liraglutide MOA- GLP1 analogs

A

increased glucose depennt insulin release and decreased glucagon release and decreased gastric emptying and increased satiety

372
Q

what are the side effects GLP-1 analogs:exanatide and liraglutide

A

nausea, vomitting, pancreatitis, modest weight lsos

373
Q

what is the MOA of the DDP4 inhibitors- gliptin

A

inhibits DPP-4 enzyme that deactivates GLP1 thereby increased glucose dependent insulin release and decreased glucagon release and decrease gastric emptying and increased satiety

374
Q

what are the SE of DDP4 inhibitors- gliptin

A

mild urinary or repiratory infections and weight is neutral

375
Q

Moa of prmalinitide

A

decreased gastric emptying and decreased glucagon

376
Q

what is the MOA of the flozins

A

they block SGLT2 in the kidney

377
Q

what are the SE of the flozins

A

they can cause glucosurai, UTIs, vaginal yeast infections, hyperkalemia, dehydration, orthostatic hypotension, and avoid with bad kidneys and so look at BUN and CR before starting

378
Q

what is the MOA of acarbose miglitol

A

inhibit intestinal brush border aha glucosidases. Delayed carbohydrate hydrolysis and glucose absorption and decreased postprandial hyperglycemia

379
Q

increase hematocrit- increased itching after hot shower, sever burning pain and red blue coloration with episodic blood clots in vessels and extremtites

A

polycythemia vera

380
Q

massive proliferation of megakaryotctes, platelets, and bleeding with thrombosis, large number of platelets and large or aborally formed

A

essential thrombocythemia

381
Q

obliteration of the bone marrow with fibrosis and due to increased fibroblast activity with massive splenomegaly and teardrop RBC

A

myelofibrosis

382
Q

what are the chronic myeloproliferative disorders and what mutation are they associated with

A

JAK-STAT mutation and they are polycythemia, essential thrombocythemia, and myelofibrosis

383
Q

heparin MOA

A

lowers the activity of thrombin and factor Xa

384
Q

heparin side effects

A

bleeding, thrombocytopenia, osteoporsis, drug drug interactions.

385
Q

enoxaparin, dalterparin, and fondapirinux MOA

A

act more on factor Xa, have a better bioavailability and 2-4 longer half life can be administered SC.

386
Q

heparin induce thrombocytopenia

A

development of IgG antibodies against hepatic-bound platelet factor. antibody heparin PF4 complex activates platelets and thrombosis and thrombocytopenia

387
Q

how to treat heparin induce thrombocytopenia

A

argatraban

388
Q

what is bivalirudin what is the mOA

A

it is a direct thrombin inhibitor

389
Q

what is the SE of bivalirudin

A

bleeding

390
Q

what is the MOA of warfacrin

A

it interferes with gamma carboxylation of vitamin K depend clotting factors.

391
Q

what enzyme is responsible for the metabolism of warfarin

A

VKOR

392
Q

what effect does warfarin have on lab bleeding tests

A

it is PT

393
Q

what is the SE of warfarin

A

it is bleeding, teratogenic, skin/tissue necroses, drug drug interactions.

394
Q

what factors have a shorter half life and what is the effect with warfarin

A

C and S have shorter half life so there is early hyper coagulability wit hwardain so there can be tissue necroses in the early days of it and small vessel microthrombosis

395
Q

what lab measurement is used for heparin

A

it is PTT

396
Q

apixaban and rivaroxaban- MOA and what is it used for

A

binds to and directly inhibits factor Xa- and treatment and prophylaxis for DVt and PE

397
Q

what is apixaban and rivaroxaban SE

A

bleeding- no reversal agent

398
Q

what is the MOA from thrombolytics and use

A

direcelty or indirectly aid in the conversion of plasminogen to plasmas which cleaves thrombin and fibrin clots. Increased PT and PTT. It is used for early MIA and early ischemic stroke, direct thrombolysis of PE

399
Q

what are the adverse effects of thrombolytics and contraindications

A

beleding, contraindicated with active bleeding,gg history of intracranial bleeding, recent surgery, known bleeding diatheses, severe hypertension.

400
Q

what are the thrombolytics

A

alteplase, reteplase, streptokinase, tenecteplase

401
Q

clopidogrel, prasugrel, ticagrelor, ticlopidine0 MOA

A

inhibit platelet aggregation by irreversibley blocking ADP receptors. Prevent expression of glycoprotein IIb/IIIa on platelet surface. Irreceribly blood of P2gamma12 of ADP so prevent platelet aggregation

402
Q

what are the ACP receptor blockers

A

clopidogrel, prasugrel, ticagrelor, ticlopidine0

403
Q

side effects of clopidogrel, prasugrel, ticagrelor, ticlopidine0

A

neutropenia, and TTP

404
Q

cilostazole, dipyridamole MOA

A

reduced platelet activation by inhibiting phosphodiesteras III and it vasodilator for good claudication- PAD- increased CAMP in the cells

405
Q

cilostazole, dipyridamole SE

A

nausea, headache, facial flushing ,hypotension, abdominal pain

406
Q

abciximab, eptifibatide, tirofiban-MOA

A

bind to glycoprotein receptor IIb/IIIa on activated platelets, preventing aggregation,

407
Q

abciximab, eptifibatide, tirofiban- SE

A

bleeding and thrombocytopenia

408
Q

purine thiol analogs that decreases denote purine synthesis and activated HGPRT

A

azothioprine- 6MP

409
Q

what are the adverse effects of azothioprine and 6MP

A

myelosuppression, GI, liver, metabolized by xanthine oxidase which increased toxicity if blocked by allopurinol or febuxostate

410
Q

cladribine MOA

A

prune analog with multiple mechanisms like inhibitor of DNA polymerase

411
Q

what are the SE of cladribine

A

myellosuppression, neurotoxicity, nephrotocitiy

412
Q

cytarabine- arabinofuranosyl MOA

A

pyramidine analog and inhibitor of DNA polymerase

413
Q

cytarabine- arabinofuranosyl SE

A

myelosuppresion with megaloblastic anemia and pancytopenia

414
Q

5FU MOA

A

pyrimidine analog bioactivated to 5FDUMP, which covalently complexes folic acid. This inhibits thymbdilate synthase

415
Q

what happens if 5FU is combined with leucovorin

A

effects are enhanced by leukovorin

416
Q

what is the mOA of methotrexate

A

folic acid analog that competitively inhibits dihydrofolate reductase and decreased dTMP and decreased DNA synthesis

417
Q

what happens with methotrexate and leucovorin

A

it is reverse

418
Q

what are the se of methotrxate

A

mucositits so ulvers, pulmonary fibrosis, myelosupppression, hepatotoxic

419
Q

what is the MOA of bleomycin

A

induces free radical formation which breaks DNA

420
Q

what are the SE of belomycin

A

pulmonary fibrosis, skin hyper pigmentation, minimal myelosuppression

421
Q

what is the mOA of dactinomycin

A

intercalates DNA

422
Q

what are the SE of dactinomycin

A

myelosuppression

423
Q

what is the moa of doxorubicin, daunorubicin

A

it generates free radicals, intercalate in DNA and breaks in DNA, and decreased replication

424
Q

what is the SE of doxorubicin, daunorubicin

A

cardiotoxic and myelsuppression and allopecia

425
Q

what do you add to daunorubicin to prevent cardiotoxicity

A

dexrazoxane

426
Q

busulfan MOA

A

cross links DNA

427
Q

what is the SE of busulfan

A

severe myelosuppression and pulmonary fibrosis

428
Q

what is the MOA of cyclophosphamide and ifofasmide

A

cross like DNA at guanine N7 needs to activated by the river screws up DNA replication

429
Q

what are the SE of cyclophosphamide and ifofasmide

A

myelosuppression, hemorrhagic cystitis, prevent with mensa and NAC

430
Q

nitrosureas are which ones

A

carmustine, lomustine, semustine, streptozocin

431
Q

what is the mOA of nitrosureas

A

require bioactivation and cross the BBB, cross link DNA

432
Q

what is the SE for nitrosureas

A

CNS toxicity, convulsions, diziness, ataxia

433
Q

paclitaxel, and other taxols MOA

A

hyperstabailze polymerized microtubules in M phase so that mitotic spindle cannot break down so anaphase cannot occur

434
Q

paclitaxel, and other taxols SE

A

myelosuppression, neuropathy, hyerpsensitivity

435
Q

vincristine, vinblastine MOA

A

vinca alkaloids that bind Beta tubular and inhibit its polymerization into microtubules and prevent mitotic spindle formation

436
Q

vincristine, vinblastine SE

A

neurotoxicity and areflexia, peipheral neuritits, constipation and paralytic ileus

437
Q

cisplatin MOA

A

cross link DNA

438
Q

cisplatin SE

A

nephrotoxic, peipheral neuropathy, ototoxicity, prevent nephrotoxicity with amifostine and chloride

439
Q

why does cisplatin cause hearing loss

A

damage to the organ of Corti

440
Q

MOA of etoposide, teniposide

A

inhiits topoisomerase II and increased DNA degradation, and same Moa as podopyllin

441
Q

etoposide and teniposide SE

A

myelosuppression and alopecia

442
Q

irinotecan, topotecan MOA

A

inhibit topisomerase I and prevent DNa unwinding and replication

443
Q

irinotecan, topotecan SE

A

severe myelosuppression diarrhea

444
Q

hydroxyurea MOA

A

inhibit ribonucelotide reducatase and decrease DNA synthesis and s phase specific

445
Q

what does hydroxyurea also do

A

increase HbF which is good for sickle cell

446
Q

Moa of prednisone

A

intracytoplasmic binding of steroid receptor and alter gene transcription

447
Q

MOA of bevacizumab

A

monoclonal antibody against VEGF inhibits angiogenesis

448
Q

bevacizumab SE

A

hemorrhage, blood clots, impaired wound healing

449
Q

erlotinib MOA

A

EGGFR kinase inhibit

450
Q

cetuximab

A

monoclonal against EGFR

451
Q

imatinib MOA and SE

A

tyrosine kinase inhibitor BCR able and ckit and it causes fluid retention

452
Q

rituximab MOA and SE

A

it is a monclonal antibody against CD20 for good for B cell neoplasms and increased risk of PML

453
Q

tamoxifen and raloxifene MOA

A

SERM and receptor antagonist for the breast and agonist for the bone block binding to ER positive cells

454
Q

side effects of tamoxifen

A

partial agonist in endometrium which increases the risk of endometrial cancer and hot flashes

455
Q

side of aloxifene

A

no increase risk of endometrial cancer and it is estrogen receptor antagonist at breast and endometrium and can treat/prevent osteoporosis

456
Q

Trastuzumab herceptin

A

monoclonal antibody agaist HEr2 which is a tyrosine kinase receptor

457
Q

what is the typical presentation of HEr2 positive breast cancer

A

rapid growing tumor and poor differentiation

458
Q

trastuzumab SE

A

cardiotoxic

459
Q

vemurafenib MOA

A

small molecule inhibitor of BRAd oncogene in positive melanoma

460
Q

multiple myeloma

A

increased risk of infection, primary amyloidosis, punched out lesion, M spike on urine electrophoresis, Ig light chains in the urine, rouleax formation and plasma cells with clock face nuclei. creastes hypercalcemia, renal involvement, anemia, bone lytic lesions/back pain

461
Q

MGUS

A

monoclonal expansion of plasma cells and are asymptomatic may lead to multiple myeloma

462
Q

increase vascular smooth muscle contraction, increase pupillary dilator muscle contraction, increased intestinal and bladder sphincter muscle ocntraction

A

alpha 1- Gq

463
Q

decreased sympathetic otuflow, decreased insulin release, decreased lipolysis, increased platelet aggregation, decreased aquoeous humor production

A

alpha 2- Gi

464
Q

increased HR, contractility, increased renin release, increased lipolysis

A

B1-Gs

465
Q

increased vasodilation, bronchodilation, increased lipolysis, increased insulin release, decreased uterine tone, ciliary muscle relaxation, and increased aqueous humor production

A

B2- Gs

466
Q

increased lipolysis, increased thermogenesis in skeletal muscle

A

B3- s

467
Q

CNS and enteric nervous system

A

M1 Gq

468
Q

decreased HR and contractility of atria

A

M2 Gi

469
Q

increased exocrine gland secretion, increased gut peristalsis, increased bladder contraction, bronchocontriction, inroad pupil constriction, ciliary muscle ocntration

A

M3 Gq

470
Q

relaxes renal vascular smooth muscle

A

D1 Gs

471
Q

modules transmitter releease in the brain

A

D2 Gi

472
Q

increased nasal and bronchial mcuus production and increased vascular permeability contraction of bronchioles and pruritus and pain

A

H1 Gq

473
Q

increased gastric acid secretion

A

H2 Gs

474
Q

increased vascular smooth muscle contraction

A

V1-Gq

475
Q

increased water permeability and reabsorption in collecting tubules of kidney

A

V2, Gs

476
Q

what are the Gs receptors

A

B1, B2, B3, D1, H2, V2

477
Q

what are the Gi receptors

A

M2,a2,D2

478
Q

what are the Gq receptors

A

H1, a1, v1,m1,m3

479
Q

bethenecol Moa and use

A

actiavtes bowel and bladder smooth muscle resistance to ACHE- used for postoperative ileum and urinary retention

480
Q

carbachol MOA and use

A

copy of Ach, and it constricts the pupil to receive intraocular pressure in open angle glaucoma

481
Q

methacholine MOA and use

A

stimualtes muscarinic receptors in airway when inhaled- challenge for asthma

482
Q

pilocarpine MOA and use

A

contracts the ciliary muscle of the eye and pupillary sphincter, resistance to ACHE- potent stimulater of sweat, tears, and salvia, open angle glaucoma and sjogren

483
Q

sonepazel, galantamine, rivastigmine MOA and use

A

indirect acetlycholenesteases used for AD

484
Q

edrophonium MOA and use

A

ACH increased from stopping ache- diagnosis of MG

485
Q

neostigmine MOA and use

A

increased ACh but no CNS penetration. it is used for neurogenic ileum and urinary retention and MG block ACHE

486
Q

physostigmine MOA and use

A

increase ACh and anticholergic toxicity and crossed BBB. block ACHE

487
Q

pyridostigmine

A

MG use and increase ACH and block ACHE

488
Q

farmer with leaky- what is the posoning

A

organophosphates which inhibits aCHE and this is treated with atropine and pralodoxine

489
Q

what are atropine, homatropine, tropic amide used on and applications, and MOA

A

it is muscarinic antagonist- eye use and produce mydriasis and cycloplegia

490
Q

benztropine used on and MOA

A

PD and acute dystonia and it is muscarinic antagonist

491
Q

glycopyrrolate used on and MOA

A

Gi and respiratory and parenteral preoperative use for reduction of airway secretions drooling and peptic ulcer- anti-muscarinic

492
Q

hyoscyamine and dicyclomine used on and MOA

A

Gi and antispasmodics for IBS- anti-msucarinic

493
Q

ipratropium and tiotropium used on and MOA

A

COPS and blocks PNS stimulation of vagus nerve- anti-muscarinic

494
Q

oxybutyrnin, solifenacin, tolterodine, derfenacin

A

reduce bladder spasms and urge urinary incontinency- anti-muscarinic

495
Q

scopolamine

A

anti-muscarinic- used for motion sickness and side effect of blurry vision, dry mouth, and urinary retention, and contripation

496
Q

what are the effects of atropine

A

pupil dilation leading to glaucoma, decreased respiratory secretions, decreased acid secretion, decreased motility of the gut, and decreased urgency

497
Q

what are the adverse effects of atropine

A

hot as a hare, dry as a bone, red as a beet, blind as a bat, mad as a hatter

498
Q

gardner eats some seeds

A

it causes myadriasis and atropine poisoning

499
Q

albuterol and samertrol- receptor action and use

A

B2>B1 so increase CAMP in the cells and used for lung

500
Q

dobuatmine- receptor action and use

A

B1>B2,a, ionotroope and increased CO and decreased LVP and increased HR and myocardial O2 consumption so can worse myocardial ischemia

501
Q

dopamine - receptor action and use

A

D1=D2>B>a- unstable bradycarida, HR shock, chornoctropic and iontopric effects at low does and vasoconstricts at high doese

502
Q

epinephrine- receptor action and use

A

B>a- at high doses, alpha effects predominant stronger B2 effects than NE

503
Q

fenoldopam - receptor action and use

A

D1 agonist and renal vasodialtion and increased renal perfusion for AKI. It is good for vasodialtion and natriuresis

504
Q

isoproterenol - receptor action and use

A

B1=B2- electrohysiologic evaluation and increased cardiac contractility and decreased vascular resistance and decreased MAP

505
Q

midodrine- receptor action and use

A

alpha 1 used for autonomic insufficiency and postural hypotension

506
Q

NE- receptor action and use

A

A1>A2>B1 hypotension and septic shock

507
Q

phenylephrine - receptor action and use

A

a1>a2- Gq-IP3 and increased Ca and protein kinase C is increased it is a vasoconstrictor and a decongestant and used for myadriasis which is pupil dialtion

508
Q

amphetamine - receptor action and use

A

indirect genral agonist and reputake inhibiotr and release of stored catechoalmines

509
Q

coacine- receptor action and use

A

indirect general agonist, reputake inhibiot- causes vasoconstriction and local anesthesia. never give Beta blockers because it can lead to opposed alpha 1

510
Q

ephedrine- receptor action and use

A

indirect general agonist and releases stored catechoalmines- nasal decongestant, urinary incontience and hypotension

511
Q

clinidine, guanafacine - receptor action and use

A

hypertensive urgency adhd and touretters. is bad because of depression of CNS, heart, and bp, and respiration, and miosis

512
Q

alpha methyldopa use and adverse effects

A

HTN during pregnancy and direct Coombs is positive and hemolytic and LSE like syndrome

513
Q

phenoxybenzamine

A

used for pheochromocytoma and prevents catecholamine crisis by non selective block of alpha receptors- gives orthostatic hypotension and reflex tachycardia

514
Q

phentolamine

A

give to patents with MAO inhibits who eat tyramine containing foods- orthostatic HTN and reflex tachycardia

515
Q

prazosin, terazodsin, tamsulosin

A

alpha1 selective antagonists usedfo r HTN and BPH and PTSD- get first dose orthostatic HTn. Tamsulosin is specific for BPH

516
Q

what are the selective Beta blockers

A

a-m

517
Q

what are the nonselective beta blockers

A

n-t

518
Q

what are the nonselevetive alpha and b antagonists

A

carvediol and labetalol

519
Q

what is nebivolol

A

beta 1 block and B3 tim so decreased HR and increased NO in the BV leading to vasodilation

520
Q

what are the drugs used for HF

A

beta blocker ACE, angio II, and aldosterone antagonist

521
Q

what are the dihydropyridine CCB

A

They are amlodipine, clevidipine, nicardipine, nifedipine, nimodipine

522
Q

what are the non-dihydropyridine CCB

A

they are verapamil and diltiazam

523
Q

what is the MOA of the CCB

A

they block volatage dependent L type Calcium channels and it in both heart and smooth muscle which decreases the muscle contractility

524
Q

what is the use of the dihydropyridine CCM

A

HTN, angina, Raynauds

525
Q

what is the use of nondihydropyridine

A

HTN, angina, afib

526
Q

what is nimodipine used for

A

subarachnoid hemorrhage to prevent the secondary cerebral vasospasm

527
Q

what is clevidipine used for

A

HTN urgency or emergency

528
Q

what are the adverse effects of the non-dyhydropyridines

A

it is cardiac depression, AV block, hyperprolactinemia, constipation

529
Q

what are the adverse effects of dihydropyridines

A

peripheral edema, flushing, diziness, gingival hyperplasia,

530
Q

what happens if you use verapamil and beta blockers

A

it can cause negative chronotropic effect yielding severe bradycardia and hypotension

531
Q

what is the MOA of hydralazine and use

A

increase cGMP and smooth muscle relaxation and vasodilator arteriole and reduce after load. It is used for severe HTN, HF and used during pregnancy, use with beta blocker to prevent reflex tachycardia

532
Q

what is the adverse effect of hydralazine

A

compensatory tachycardia, fluid retention, headache, angina, SLE and contrindicated in angina and CAD

533
Q

nitroprusside MOA

A

short acting increase in cGMP and direct release of NO and cyanide toxicity

534
Q

fenoldopam MOA

A

dopamine D1 receptor agonsit- coronary, peripheral, renal, and splanchnic vasodialtion. Decrease BP and increase natriuresis. also used postoperatively as an antihypertensive. Cause hypotension and tachycardia. It increases renal perfusion. it is good for AKI.

535
Q

what does nitroprusside to heart values

A

it is decreased LV preload and after load so SV is maintained and can be used in hypertensive heart failure.

536
Q

what is the MOA of nitrates

A

it vasodilates by increasing No in the vascular smooth muscle and increase in cGMP and smooth muscle relaxation. Dilate veins>arteries and decrease preload. Ventilate and decrease preload and arterial dilation to decrease after load and decrease O2. Increase HR and decrease EDV.

537
Q

what is the use of nitrates

A

angina, acute coronary syndrome, pulmonary edema

538
Q

what are the adverse effects of nitrates

A

reflex tachycardia, hypotension, flushing, headache, decrease GTP and increase cGMP leads to decrease in Ca and so decreased activation of myosin light chain kinase so dephospho rylation of MLK so vascular relaxation

539
Q

what is the deal with not dosing at night for nitrates

A

it is development of tolerance for the vasodilating action during the work week and loss of tolerance over the weekend- tachycardia, dizziness, headache upon re-exposure

540
Q

what cytokine causes fever, acute inflammation, and activates endothelium to express adhesion molecules

A

IL-1

541
Q

what cytokine causes fever, and production of acute phase proteins

A

IL-6

542
Q

what cytokine causes chemotactic factor for neurtorphils

A

IL-8

543
Q

what cytokine causes induced differentiation of T cells into Th1 cells which activates NK

A

IL-12

544
Q

what cytokine mediates septic shock and activates the endothelium and causes WBC recruitment, vascular lead, and cachexia

A

TNF alpha

545
Q

what cytokine stimulates growth of helper, cytotoxic, and regulatory T cells, and NK cells, only secreted by T lymphocytes and it is present for long time FA apoptosis

A

IL-2

546
Q

what cytokine secreted by NK cells and T cells in repsonse to IL-12 from macrophages, stimulates macrophages to kill phagocytes pathogens. inhibits the differentiation of TH2, and activates NK cells to kill virus infected cells. MHC expression and antigen presentation by all cells

A

IFN gamma

547
Q

what cytokine induces differentiation of T cells into TH2 cells and promotes growth of B cells and enhances class switching of IgE and IgG

A

Il-4

548
Q

what cytokine promotes growth and differentiation of B cells and enhances class switching to IgA and stimulates growth and differentiation of eosinophils. seen as an increase in asthma

A

IL-5

549
Q

what cytokine attenuates inflammatory response, and decreases expression of MHC II and Th1 cytokines. Inhibits activated macrophages and dendritic cells. Also secreted by regulatory t cells

A

IL-10

550
Q

what are the two cytokines that attenuate the immune response

A

TGF-b and IL-10

551
Q

what cytokines are secreted by macophages

A

IL1,6,8,12, and TGFa

552
Q

what cytokines are secreted by T cells

A

IL2,3,

553
Q

what cytokines are secreted by Th1

A

interferon gamma

554
Q

what cytokines are secreted by Th2

A

IL-4,5,10

555
Q

what drugs interfere with the pyrimidine pathway (c,T)

A

methotextate, trimethoprim, and pyrimethamine, 5Fu

556
Q

what drugs disrupts purine syntehssi

A

6MP, ribavirine, and mycophenolate

557
Q

what drugs disrupt the purine and pyrimidine pathways

A

hydroxyurea

558
Q

what enzyme is deficient in SCID

A

adenosine deaminase

559
Q

ezyme deficient if there is hyperuricimea. gout, aggression, and self-multialtion, and intellectual disability,y and dystonia- orange sand in diaper

A

defective purine salvage due to absent HGPRt and this leads to excess uric acid production and increased PRPP aminodtransferase activity.

560
Q

what drugs can be used to treat Lesch Nyhan and what enzyme does it target

A

Allopurinol and febuxostat target xanthine oxidase and degrade the uric acid to make it get excreted into the urine. this only really helps the gout

561
Q

if there is low glucose the nwhat happens with the lac operon

A

there is increased adenyl cyclase activity and increased generation of cAMP from tATP and activation of catabolite activator protein and increased transcription

562
Q

what happens to the lac operon if there is high lactose avaialbel

A

it unbinds the repressor protein for the repressor/opertator site and increases transcription

563
Q

what process is defective with xeroderma pigmentosa

A

it is defective repair of pyrimidine dimers because of UV exposure. It is defective endonuclease to remove these dimers

564
Q

what process is defective in the occurrence of Lynch syndroem

A

mismatch repair

565
Q

what process is defective in ataxia telangactasei and falcon anemia

A

non-homologous end joining

566
Q

where can a promoter be in relation to the the start codon

A

it can be upstream of it by 25-75 bps

567
Q

where are enhancers and silencers

A

located wherever including introns

568
Q

kid eats a mushroom trying to get high then starts dying from liver failure- what is it and what is impaired

A

it inhibits RNA polymerase II which his mana so it causes severe hepatotoxicitiy

569
Q

what drug blocks RNA polymerase of prokaryotes

A

rifampin

570
Q

what are antibodies for spilesomal SnRNPs specific for

A

SLE

571
Q

what are anti-U1-RNP antibodes specific for

A

mixed connective tissue disorder

572
Q

what are where is the amino acid acceptor side

A

it is CCA on the TRNA 3’ end

573
Q

what si the enzyme that charges TRNA

A

aminacyl tRAN syntheses which scrutinizes the amino acid before and after it binds to tRNA.

574
Q

what cells have increased RER

A

goblet cells and plasma cells and neurons nil substance

575
Q

coarse facial features, clouded corneas, restricted joint moment- diseease and deficiecny

A

it is I-cell disease and it is from the non-use of mannose6phosphate which means that lysosomal enzyme go to the extracellular matrix instead of to the lysosomes

576
Q

what do peroxisomes do

A

very long chain fatty acids, AA, and branched fatty acids, and ethanol

577
Q

what do proteasome do

A

they are barrel shaped protein complex that degrades damage or ubiquitin tagged protein

578
Q

what drugs are microtubules inhibitors

A

mebensazole, griseofulvin, colchicine, vincristine/blastine, paclitaxel

579
Q

cafe au lait macules, polyostostic fibrous dysplasai, nd procoous pubery with multiple endocrine issues

A

McCUne Albright syndrome- due to mutation with g protein signaling and it is only survivable if mosaic

580
Q

ragged red fibers

A

mitochondrial disorder so heteroplasmy

581
Q

hyperphagia, obesitity, intellectual diability, hypogonadism, and hypotonia- what is the disorder and what happened

A

it is prayer willi it is from matron imprinting the gene from mom is silent and dads is missing or there is maternal disomy

582
Q

seizures, inappropriate laughter, atazia, and severe intellectual disability– what is the disorder and what happened

A

Angelman- parental imprinitng so da dis silen mom is deleted or paternal disomy

583
Q

increased phosphate wasting at proximal tubules and results in rickets but its resistant to vitamin D- what is the disorder and what happened

A

it is hypophospatemic rickets and it is XD

584
Q

dwarfism with limb length only affected- what is the defect and disorder

A

Anchondroplasia mutated FGFR3, and it is defective chondrocytes from this

585
Q

ADPKD is from what gene

A

PKD1 or 2 on chromosome 16 mainly and sometimes 4

586
Q

what chromosome is the deletion of FAP

A

it is chromosome 5q APC gene

587
Q

severe atherosceloritic disease early in life with corneal Marcus, and tendon xanthomas- what is the defect and disorder

A

it is elevated LDL due to a defective or absent LDL receptor- it is lack it in the lvier- familial hypercholesterolemai

588
Q

branching skin lesions, recurrent epistaxis, skin discoloration , Av malformations wit hGI bleeding ,hemoptysis, hematuria, nail clubbing

A

hereditary hemorrhagic telangactasia it is AD

589
Q

what NT changes occur with HD

A

decreased GABA, increased DA, decreased ACH

590
Q

multiple early malignancies, and sarcoma, breast, leukemia, adrenal gland, and osteocsarcoma and adenocarcinoma of the breast- what is the defect and disorder

A

LiFaumani- inactivation of one allele and there is issues with p53

591
Q

what chromosome is the fibrin gene and when is it mutated and what directions do the lenses go

A

Marfan chronocome 15 and up an temporal

592
Q

what gene is MEN2 associated with

A

ret

593
Q

what is the function of dystrophin

A

it links actin to transmembrane proteins

594
Q

what is the mutation with duchenne

A

it is a frameshift or nonsense mutation

595
Q

what is the mutation with Becker

A

it is a non-frameshift mutation

596
Q

post pubertal macroorchisdism, long face wit ha large jaw, and large everted ears, autism ,and mitral valve prolapse, ADHD, and large forehead– what is the defect and disorder

A

it is fragile X which is XD and it is a trinucelotide repeat in the FMR1 gene and it is from methylation which decreased the FMR1 expression

597
Q

what is the robertsonian translocation and what can it cause

A

Downs it is 14;21

598
Q

what is the quad screen for downs show

A

decreased afp, increased bHCG, and decreased estriol, and increased inhibin A- beta and A are increased

599
Q

severe intellecturala disability, rocker bottom feet, microagnathia, low set ears, clenched hands with overlapping fingers, prominent occiput, and congenital heart disease- what is the disease and what is the quad screen

A

edwards syndrome- decreased all levels on quad screen

600
Q

severe intellectual disability, rocker botton feet, micropthalmia, microcephaly, and cleft lip and plate and holoprosencephaly, polydactlyl, and congenital heart disease, cutis appeals, ompahlocele- what is the disease

A

patau syndrome- cutis aplasia is holes in the scalp

601
Q

woman with multiple miscarriages but when she has a child they have dysmorphic features- what might be the issue

A

unbalanced translocation

602
Q

micocephaly, moderate ssevere intellectural disability, high pitched cry, epicanthal fols, cardaic abnormalities- what is the disease and chromosomal abnormality

A

Cri-du-Chat syndrome- microdeletion on the short chromosome 5

603
Q

elfin faces, intellectual disability, hypercalcemia, and increased sensitivity to vitamin D, well developed verbal skills, extreme friendliness, cardiovascualr problems- what is the disease and chromosomal abnormality

A

Williams sydnrome- chromosome 7 deletion including the elastin gene

604
Q

what pouch is in pouch 4

A

thymus and superior parathyroid

605
Q

cleft paplate, abnormal face, thyme aplasia, cardiac defects, hypocalcemia- what is the disease and deletion and immunodeficiency

A

i tis a defect of the 3 and 4 pouch from a micro deletion of chromosome 22q11 and it has immunodeficiency because there are no T cells produced so recurrent fungal and PJP and candida

606
Q

what vitamins can be produced by enteric bacterai

A

K and folate

607
Q

what does gastric bypass do to vitamines

A

b12,A,E,Fe are all decreased and K and folate are increasd from the extra bacteria

608
Q

what enzyme is inhibited my fomepizole

A

fomepizole is inhibitted by alcohol dehydrogenase and this is an antidots for methanol or ethylene glycol poisoning

609
Q

what is the enzyme inhibited by disulfiram

A

inhibits acetaldehyde dehydrogenase and acetaldehyde accumulates and this contributes the hangover

610
Q

where does fatty acid oxidation, Coa production, TCa, ox phos, and ketogenesis occur in the cell

A

mitochronidra

611
Q

where does glycolysis, HMP shunt, synthesis of setters, proteins, and fatty acids, and cholesterol, and nucleotides occur in the cell

A

cytoplasm

612
Q

where does heme synthesis, urea cycle, and gluconeogenesis occur in the cell

A

both the cytoplasm and mitochondria

613
Q

metabolic acodis, hypoglycemia, and increased base metabolic rate and ketones from the AGMA, get hypotonic, lethargic, vomottin, respiratory distress and increased propionic acid and urine methlymalonic acid-what is the defect

A

defect in methylmalonic acid mutate which is AR and it causes methylmalonic acidemia

614
Q

what is the rate limiting enzyme for glycolysis

A

PFK1

615
Q

what is the rate limiting enzyme for gluconeogenesis

A

Fructose 1-6 bisphosphatase

616
Q

what is the rate limiting enzyme for TCA cycle

A

isocitrate dehydrogenase

617
Q

what is the rate limiting enzyme for glycogenesis

A

glycogen syntahse

618
Q

what is the rate limiting enzyme for glycogenolysis

A

glycogen phosphorylase

619
Q

what is the rate limiting enzyme for HMP shunt

A

G6PD

620
Q

what is the rate limiting enzyme for de novo purine syntehssi

A

CPSII

621
Q

what is the rate limiting enzyme for denote purine synthesis

A

glutamine- PRPP amidotransferase

622
Q

what is the rate limiting enzyme for urea cycle

A

CPS1

623
Q

what is the rate limiting enzyme for fatty acid synthesis

A

acetly Co carboxylase

624
Q

what is the rate limiting enzyme for fatty acid oxidation

A

carnthine acyltransfera I- deficiency leads to myopathy and hypoketotic hypoglycemia from decreased beta oxidation in the mitochondria

625
Q

what is the rate limiting enzyme for ketogenesis

A

HMG COA synthease

626
Q

what is the rate limiting enzyme for cholesterol syntehssi

A

HMG COA reductase

627
Q

severe metabolic acidosis of the neonate wit h lethargy, poor feeding, vomiting, hypotonia

A

propylnul coa issue

628
Q

what enzyme is blocked by werknickes

A

alpha ketoglutarate dehydrogenase

629
Q

what is NAD used for

A

catabolic processes

630
Q

what is NADPH used for

A

anabolic processes as a supply of reducing equivalents

631
Q

what is the difference between glucokinase and hexokinase

A

hexokinase is in most tissue and it has a higher affinity for Km and lower capacity for glucose. it is no induced by insulin
glucokinase is a high KM so low binding but high capacity sand it iis induced by insulin

632
Q

what cofactors are needed for pyruvate dehydrogenase complex

A

thiamine pyrophosphate (B1), lipoid acid, Coa (B5), FAD (riboflavin), and NAD (niacin

633
Q

rice ater stools, garlic breath and vomiting what did they ingest

A

arsenic and it blocks lipoid acid which is used in the pyruvate dehydrogenase complex

634
Q

neurologic defects, lactic acidosis and increased serum alanine in infant- what is the deficiency, treatment and cause

A

it is pyruvate dehydrogenase complex deficiency and it causes a build up of pyruvate that get shunted to lactate and alanine This causes the increased lactic acidosis. Need to increase ketogenic nutrients which is high fat and high leucine and lysine. Supplement with b1

635
Q

what can pyruvate produce

A

alanine, pyruvate carboxylase to oaloacetate, glycolysis to TCA, and lactic acid dehydrogenase

636
Q

what enzyme requires all the cofactor in the TCA cycle

A

alpha ketoglutartate dehydrogenase complex requires B1,B2, B3,B5, lipoid acid

637
Q

mucsle breakdown, pain and decreased energy in the excerisiz muscle can be from what

A

lactate dehydrogenase it cannot regenerate NAD so during strenuous activity leads to muscle breakdown. NAD is used to covert glyceraldehyde 3 phosphate to 1,3 bisphosphate in glycolysis

638
Q

what inhibits the electron transport chain

A

rotenone, and antimycin, CO and CN

639
Q

what is the ATP synthase inhibitor

A

oligomycin

640
Q

what is the uncoupling agent

A

2,4 dinitrophenol for weight loss and aspirin if there is an OD

641
Q

what contest pyruvate to oxaloacete and what does it requrei

A

pyruvate carboxylase and it reared biotin and activated by acetyl coa

642
Q

where can gluconeogenesis occur

A

the kidney, liver, and intestinal epithelium

643
Q

what is the purpose of the HMP shunt

A

it provides a source of NADPH form available glucose 6-P and the NADPH is required for reductive reactions and glutathione reduction inside RBC, fatty acid and cholesterol biosynthesis. This pathway yields ribose for nucelotide synthesis and glycolytic intermediates. this occurs in the cytoplasm

644
Q

what is the rate limiting step for HMP shunt

A

glucose 6P

645
Q

what do transkeolates do and what does it requried

A

it requires B1 and it takes ribose 5p, glyceraldehyde 3P, and fructose 6P to ribulose 5P

646
Q

person takes drug then gets heinz bodies and bite cells and hemotlyic anemia- what are the causes, why does it happen and what is the inheritance pattern

A

it is G6PD decadencet so it is a deficiency of glucose 6P cannot go to 6 phosphogluconate. It decreased NADPH in the RBC which leads to poor RBC defense against oxidizing agents. The causes are fav beans, sulfonamides, primaquine, and anti-TB drugs. It is X-linked recessive

647
Q

frucctose in the blood and urine- what enzyme is deficient and what is the inheretaine

A

it is defect in frucktokinase which is AAR and it is asymptomatic because fructosae is still converted by hexokinase

648
Q

child starts eating juice and fruit and honey and hypoglycemia, jaundice, cihhrosis, vomiting irritability, hepatomegaly, and increased LFT- what is the deficiency, and why is this more severe than essential fructosuria

A

it is a deficiency of aldolase B and AR- facts 1phospphate accumulates causing a decrease in available phosphate which results in the inhibition of glycogenolysis and gluconeogenesis. Reducing sugar is detected in the urine. decreased fructose and sucrose consumption

649
Q

glatactose in the blood and urine, infantile cataracts and failure to track objects of social smile- what is the deficiency and why

A

galactokinase deficecny- galactitol accumulates if galactorse is present and begins when the infant starts feeding

650
Q

failure to thrive, jaundice, hepatomegaly, infantile cataracts, intellectual disability and ecoli sepsis in neonates- what is the deficiency and why

A

deficiceny of galactose 1P uridyltranfersase and its AR. damage is accumulation of toxic substrates like galaticol which accumulates in the lens.

651
Q

why does sorbitol cause eye damage and what patients get it

A

in hyperglycemia state, alludes reductase converts glucose to sorbitol faster than it can be metabolized and sorbitol then accumulates and it increases water diffusion into the cells. Depletion of NADPH by aldolase reductase increases the oxidative stress which accerleates the development of cataracts and microvascular complications in the diabetics

652
Q

bloating, cramping, faltulence osmotic diarrhea- what is deficient

A

insuffienct lactase enzyme and it is age depend and loss of brush border can also be there the stool will have a low pH and breath will have increased hydrogen. intestinal biopsy should be nromal

653
Q

what are the essential amino acids

A

methionine, valine, histidien, isoleucine, phenylalanine, threonine, typtophan, leucine, lysine,

654
Q

what AA are in the DNA histones

A

lysine and arginine- positively charged

655
Q

what should the diet change toward if there is a defect in the urea cycle

A

need to only have essential AA and no excess because of the deleterious effects

656
Q

whats released form the muscle during protein catabolism and explain the rest of the process

A

alanine is release by muscle during protein catabolism as part of the glucose alanine cycle that removes excess nitrogen. Alanine goes to the liver as a vehicle of nitrogen disposal and carbon source for glutton. Allan is transaminate and produces pyruvate and alpha ketoglutarate and accept the amino grow. Glyctamate receive the amino group and releases ammonia to regeneratie the alpha ketoglutarate

657
Q

what happens with hyperammonia

A

excess NH3 which depleates the alpha ketoglutarate leading to inhibition of the TCA cycle

658
Q

what can be given to decrease blood ammonia levels

A

lactose ot acidiffy teh GI track, NH4 to help excretion, reifaximin to decrease colonic ammoniagenic bacterai, benzoate, phenlacetate or phnelybuttarte to bidn to NH4 and lead to excretion

659
Q

neonates with poorly regulated respiration, body temperature, poor feeding, and intellectual disability- what is the deficiency and why

A

n-acetylglutamate synthase deficiency which is a required cofactor for CPS1 which leads to hyperammonia- looks exactly like CPS1 deficincy

660
Q

male child with increased orotic acid in the blood and urine, decreased BUN and symptoms of hyper ammonia, no medaloblastic anemia, and vomiting, tachypnea, and ocma– what is the deficiency and why

A

it is XR and it is ornithine transcarbamylase deficiency- excessive caramel phosphate is converted to orotic acid as part of pyrinimide syntehse

661
Q

child with failure to thrive, developmental delay and megaloplastic anemia refractory to B12 and folate with increased orocic acid but no hyperammonia

A

it is a defect in UMP synthase in the denote pyrimidine synthesis pathway

662
Q

what are the derivatives of tryptophan and what does it require

A

niacin, and deratonin and melatonin- vitamin C Bh4, and B6

663
Q

what are the derivatives of phenylalanineand what does it require

A

tyrosine, dopa, dpoamine, NE, and epi, thyroxine, melanin- B2,B6,BH4

664
Q

what are the derivatives of histidine and what does it require

A

histamine-B6

665
Q

what are the derivatives of glycine and what does it require

A

heme-B6

666
Q

what are the derivatives of glutamate and what does it require

A

GABA(B6) and glutathione

667
Q

what are the derivatives of arginine and what does it require

A

creatine, urea, NO (Bh4)

668
Q

what happens if dopamine beta hydroxylate is blocked

A

increased dopamine, and decreased NE and intermittent fainting occurs

669
Q

what enzyme is increased by cortisol in the catecholamine path and what is the reaction

A

NE conversion to epi and its increased by cortisol acting on pehnyltheanolamine N methyltransferase

670
Q

musty body ordoe and intellectual disability ,growth retardation, seizures, fair skin, eczema, and musty body odor- what is the deficiency and what is the reason and tratment

A

it is PKU and it is deficiency of phenylalanine hydroxylate or tetrahydrobipterin. Tyrosin becomes essential. Need to increase tyrosine and tetrahjydrobiopterin

671
Q

what happens with maternal PKU

A

lack of proper dietary therapy during pregnancy infant with microcephaly and intercellular disability growth retardation and congenital heart defects

672
Q

what NT are decreased from PKU

A

NT and serotonin from thhe increased pehnylalanine

673
Q

infant with vomiting, poor feeding, urine smells like burnt sugar-what is the deficiency and what is the reason and tratment

A

it is a blocked degradation of isoleucine, leucine, valine due to decreased branched chain alpha ketoacid dehydrogenase B2 causeing increased alpha ketocacids in the blood like leucine and this causes severe CNS defects and intellectual disability and death- it is AR and need to restrict these there and supplement thiamine

674
Q

blue black connective tissue with debilitating arthralgia, and black uric when exposed to air (diaper)-what is the deficiency and what is the reason and tratment

A

it is congenital deficiency of homogentisate oxidase which is in the digressive pathway of tyrosine to fumarate pigment forming homogentisic acid accumulates in the tissue and its AR. usually being. there is no degradation of tyrosine to fumarate

675
Q

intellectual disability, osteoporosis, marfanoid habits with kyphosis, lens subluxation down and in and thrombosis and artheroscelsosis and risk of MI and stroke-what is the deficiency and what is the reason and tratment

A

it is homocysterinura which is all from excess homocytesine- increase coagulability leads to acute coronary syndrome and atheroscelrosis

676
Q

what are the deficient enzymes in homocysteinuria

A
  • cystathione synthase deficiecny- need to increase cysteine, B12, and folate and decrease methionine
  • decreaseed affinity for cystathione synthase for pyridoxal phosphate- increase B6 and cysteine in the diet
  • methionine synthase deficiecny- give high dose B6 and decrease methionine
677
Q

excess cytein in the urine with hexagonal stones-what is the deficiency and what is the reason and tratment

A

it is hereditary defect of the renal PCT and intestinal amino acid transporter that prevents reabsorption of cystine, ornithine, lysine, and argine- excess cysteine in the rine can lead to these stones. Can treat with urinary alkilinizzation wit hacetazolamide and chilling agents and increase hydration overall

678
Q

what stain stains for glycogen

A

Pas stain

679
Q

weakness, hyptonia, hypoketotc hypoglycemia with toxic accumualtion-what is the deficiency and what is the reason and tratment

A

it is a systemic primary carnation deficiency- inherited defect in transport of LCFASinto the mitochondria leading to accumulation

680
Q

in infancy or childhood with vomiting, lethargy, seizures, coma, and liver dysfunction-and hypoketotic hypoglycemia-what is the deficiency and what is the reason and tratment

A

aR of fatty acid oxidation and decreased ability to break down fatty acids into acetyl COA and accumulation of 8-10 carbon fatty acyl carnations in the blood and hypoketotic hypoglycemia so a minor illness can lead to sudden death

681
Q

what are the ketone bodies

A

acetone, acetoacetate, and beta hydroxybutyrate

682
Q

what happens with alcoholism and excess NADH

A

it is shunted to oxaloacetate to malate both of which increase the buildup of acetyl COA which suits glucose and FFA toward the production of ketone bodies

683
Q

starvation for 1-3 days blood glucose is maintained by

A

hepatic glyocgenolysis, adipose release of FFA, and muscle and liver which shift fuel use from glucose to FFA. Haptic gluconeogenesis from peripheral lactacte and alanine and from adipose tissue glycerol and properly cos .

684
Q

when the glycogen reserves depleted by

A

1 day

685
Q

starvation after 3 days

A

adipose sites like ketone bodies become the main source for the bain and after this is depleted and vital protein degradation accelerates leading to organ failure and death

686
Q

what determines survival time from starvation

A

excess stores

687
Q

what can happen with referring syndrome

A

negligible nutrient intake for 5 days so intracellualr stories are depleted because the body takes the intracellular stores and put them out. The body when its being refed then hides all the nutrients in the cells and this meand decreased K, Mg, phos in the blood leading to adverse effects and depletes the ATP form trapping nutrients in cells

688
Q

what is hormone sensitive lipase used for

A

it is digression of Tgs stored in adipocytes- inhibited by insulin and increased by ACTH, and glucagon and catecholamines and during starvation it provides the substrate

689
Q

what is LCAT

A

it catalyzes the esterification of cholesterol

690
Q

what is APOe

A

mediated remnant uptake

691
Q

APOA-1

A

activatees LCAt which catalyzes esterification of cholesterol

692
Q

APOC-II

A

lipoprotein lipase cofactor

693
Q

APOB48

A

mediates chylomicron secretion

694
Q

APOB-100

A

binds LDL receptor

695
Q

function of chylomicron

A

deilvers dietary Tgs to the peripheral tissue and delivers cholesterol to the liver in the form of remnants which are depleted of their TG;s and secreted by intestinal epithelial cells

696
Q

VLDL

A

delivers heaptic TGs to periphea ltissue and secreted by eh lvier

697
Q

IDL

A

formed in the degradation of VLDL delivers TGs and cholesterol to the lvier

698
Q

LDL

A

delivers hapetic choelsterol to peripheral tissue

699
Q

HDL

A

mediates reveres cholesterol tranport form the peripheral tissue to the liver

700
Q

pancreatitis, heaptosplenomegaly, and eruptive xanthomas and creamy layer of supernant- what is deficiency and what is increased n the blood

A

there are increased chylocmiconrs in the blood and test with heparin for LPL activity and there is deficiency lipoprotein lipase and body can’t clear dietary lipids but there is no increased risk of heart disease in hyperchylomicronemai

701
Q

accelerated atheroscrolsis, tendon xanthomas and coverall acrus- what is deficiency and what is increased n the blood

A

absent or defective LDL receptors and this increases the LDL and cholesterol in the blood- AD- and it is variable if heterozygote can wait lonter- Familial hyperchoelsterolemai

702
Q

hyper TG and pancreatitis what is deficiency and what is increased n the blood

A

it is hyeprtriglyceridemia and it is VLDL and increased Tg in the blood and its from the overproduction of VLDL

703
Q

acnthocytes, neurological issues like progressive ataxia and retinitis pigmentosa and foamy enterocytes in the lamina propria- what is deficiency and what is increased n the blood

A

abetalipoproteinemua- decreased APOB48 and so can’t get cholesterol out. AD and it is a mutation in MTP so there is decreased CLDL so steatoreaha and increased TG in the enterocytes

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