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Fundamentals 1 > Formatives Review > Flashcards

Formatives Review Flashcards

1
Q

Coding strand

A

5’ to 3’ direction

is the same as the mRNA but with T instead of you

mRNA also in 5’ to 3’ direction

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2
Q

Example if this is the coding strand what is the mRNA? 3’-TCCCGA-5’

A

5’-AGCCCU-3’

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3
Q

Example is this is the template strand what is the mRNA? 3’-TCCCGA-5’

A

mRNA will be antiparallel and complement

5’-AGGGCU-3’

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4
Q

Where is the promoter located?

A

upstream to the start site

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5
Q

If muscle creatinine kinase is elevated and child has muscle cramps, what does this indicated?

A

GSD5 - McArdle

problem with muscle glycogen phosphorylase

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6
Q

How can you treat OTC deficiency? (3)

A

benzoate, phenylbutyrate, phenylacetate

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7
Q

What plasma metabolites elevate in OTC deficiency?

A

alanine and glutamine

*also elevate with carbamoyl phosphate synthetase deficiency

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8
Q

Extended clonus and tachypnea indicate what ?

A

hyperammonia

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9
Q

What is the inheritance pattern of carbamoyl phosphatase synthase deficiency?

A

autosomal recessive

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10
Q

What is the inheritance pattern of OTC defiency?

A

X-linked recessive

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11
Q

What can indicate carbamoyl synthetase deficiency?

A

no orotic aciduria since carbamoyl phosphate is not being produced

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12
Q

Too much insulin results in …

A

hypoglycemia

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13
Q

What determines which mRNA will be produced in a specific tissue?

A

the presence of specific transcription factors

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14
Q

What does eosin dye?

A

mitochondria and cytosol

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15
Q

What does hematoxylin dye?

A

it dyes basophilic structures

nucleus, ribosomes and RER

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16
Q

How do you indicate an adopted child on pedigree?

A

use dotted line to adopted child

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17
Q

High levels of lactate and uric acid indicates which GSD?

A

Von Gierke (GSD1) has lactic acidosis

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18
Q

What is the stain of golgi apparatus?

A

does not stain

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19
Q

What is the only hyperammonia disease that is X-linked recessive?

A

OTC deficiency

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20
Q

What is the initial immune response to a gram negative bacteria?

A

TLR-4 binds LPS

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21
Q

What is the initial immune response to a gram positive bacteria?

A

TLR-2 and TLR-6 bind lipoteichoic acid

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22
Q

Chronic granulomatous disease

A

prevents phagocytosis

defects in enzyme NADPH oxidase (cannot facilitate respiratory burst)

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23
Q

What is an example of a pattern recognition receptor?

A

Toll-like receptors

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24
Q

What cell is primary performer of phagocytosis?

A

macrophages

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25
Q

Major inflammatory cytokines

A

IL-1, IL-6, TNF-alpha

*these 3 cytokines are capable of producing a cytokine storm

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26
Q

MacConkey agar

A

Selective for gram-negatives due to bile salt

Differential for lactose producers *

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27
Q
  • lactose producers
A

can metabolize carbon sources into acids

lactic acid fermenters

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28
Q

What is true of anaerobic bacteria?

A

they cannot survive in O2 environments because it is too reactive

they require low redox environments (anaerobic environments)

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29
Q

What type of test has a short turnaround?

A

EIA

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30
Q

What toxins are associated with C. Diff?

A

Toxin A/B

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31
Q

What is the problem with just antigen detection test?

A

can tell us if genes are present but NOT whether-or-not they are expressed

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32
Q

What is the most toxic part of gram negative bacteria?

A

lipid A in LPS

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33
Q

What is common virulence factor for E.coli, especially in UTIs?

A

type I fimbriae to attach to bladder epithelia

*this is common in many enterobacteria

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34
Q

LD50 and virulence

A

lower LD50 means it takes less pathogen to achieve 50% effect

lower LD50 = higher potency

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35
Q

What pathogen causes diarrhea RAPIDLY?

A

staph aureus

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36
Q

What is most common bacterial infection following antimicrobial treatment?

A

C. diff infection

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37
Q

C. diff characteristics

A

gram positive anaerobic rod

*like other clostridium

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38
Q

Which toxin inhibits 60s ribosome?

A

shiga and shiga-like toxin

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39
Q

Diffuse muscle weakness associated with nausea and vomitting indicates?

A

c. botulium

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40
Q

What type of tissue lines bladder?

A

transitional epithelium

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41
Q

Esophageal muscularis externa

A

gradually changes from entirely skeletal muscle to smooth muscle in the distal portion

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42
Q

What is included in the mucosa?

A

epithelial tissue and lamina propria

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43
Q

Is it normal for lymphocytes to be in the lamina propria?

A

yes

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44
Q

Is it normal for blood vessels to be in submucosa?

A

yes

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45
Q

what is the normal luminal surface of the esophageous?

A

non-keratinized stratified squamous

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46
Q

What is always the main site of absorption of an oral drug?

A

the small intestine regardless of pKa/pH

this is due to the small intestine’s large surface area

47
Q

If a molecule is very large, how must it be transported?

A

endocytosis

too big to diffuse through membrane or to fit through channel/transporter

48
Q

What type of molecules break down easily in stomach?

A

proteins like insulin and glucagon

49
Q

When will a weak acid be 99% ionized?

A

pH +2 from its pKa

(more basic environment makes drug more ionized)

50
Q

What form must a drug be in to be used?

A

unionized form

51
Q

When will a weak base be 99% ionized?

A

pH -2 from pKa

(more acidic environment makes drug more ionized)

52
Q

Mobile mass in a young woman is most likely a …

A

fibroadenoma

53
Q

Fibroadenoma on ultrasound

A

circumscribed

hypoechoic

pleomorphic calcifications

54
Q

Cyst on ultrasound

A

simple anechoic lesion with thin walls

55
Q

Anechoic

A

“without echoes”

means that there is just space, not mass

black on utrasound

56
Q

Hypoechoic

A

with echoes

matter on ultrasound

57
Q

When is galactocele seen?

A

during lactation

58
Q

Who is the best person to test in a pedigree to see if a cancer is genetic?

A

someone with cancer

see if theirs is a genetic cancer

59
Q

What does Genetics Information Non-discrimination Act protect?

A

health insurance

employment

60
Q

What is the first line testing for individuals with autism and developmental delay?

A

SNP microarray

61
Q

What is the first line testing for suspected trisomy?

A

karyotype

62
Q

Limitations of whole genome sequencing

A

Cannot detect repeat expansions

Cannot detect rearrangements

Only analyzes exons (not UTR, introns or mitrochondrial DNA)

63
Q

Where do competitive agonists bind?

A

to the receptor!

has no intrinsic activity itself

64
Q

Why do steroidal hormones take a few hours to work?

A

they work on the nucleus which need to start transcription and make proteins to feel influence

65
Q

What does an increase in drug half life lead to?

A

an increase in plasma concentrations at steady state

66
Q

Total clearance

A

a sum of renal and hepatic clearance

67
Q

“excreted in the urine”

A

indicates renal clearance

68
Q

Does cancer always mean that gene expression is increased?

A

No! You also want to reduce expression of things like tumor suppressor genes

69
Q

Tumor suppressor genes inheritance pattern

A

autosomal dominant

*still follows 2 hit hypothesis

70
Q

Methylation and gene expression

A

methylation decreases gene expression

(does opposite of acetylation)

71
Q

Acetylation and gene expression

A

histones’ electrostatic interaction with DNA is weaker and more transcription can occur

(does opposite of methylation)

72
Q

Examples of epidermal growth factor receptors

A

MEN 2 and HER2

*both proto-oncogenes

73
Q

Epidermal growth factor receptors

A

trigger Ras pathway through tyrosine kinase receptors

74
Q

Ras pathway

A

tyrosine kinase phosphorylates Ras which activates it

Ras then phosphorylates MEK which phosphorylates MAP kinase

75
Q

MAP kinase

A

increases transcription and translation

(would increase acetylation to loosen DNA for more transcription)

76
Q

Trastuzumab

A

therapy for HER2

77
Q

Tamoxifen / fulvestrant

A

therapies for ER+

78
Q

What does a mutation in one p53 gene cause?

A

Li-Faumeni syndrome characterized by early cancers

79
Q

If someone has early onset cancer and is positive for TSG, what does this indicate?

A

their normal cells are carrier of mutation (one allele affected)

their cancerous cells have both mutations

80
Q

CDK4

A

can be blocked by p53

phosphorylates Rb to release EF2

81
Q

BRCA 2 cancers

A

breast, ovarian, pancreatic, prostate, stomach, and gallbladder/bile duct cancers.

*also fanconi anemia

82
Q

What happens to lymph nodes when infection occurs?

A

B-cells are activated in lymph node

B-cell activation spurs the formation of more geminal centers

83
Q

What can loss of BRCA 2 lead to (niche point)?

A

misrepair of chromosomal DSBs

error-prone homologous recombination pathway

84
Q

What is genetics of most urea cycle deficiencies? What is the exception?

A

autosomal recessive with the exception of OTC (X-linked recessive)

85
Q

What variant is most common cause of CF?

A

p.Phe508del

3 gene deletion (single amino acid)

causes buildup in the ER

86
Q

What is the Fox3p gene associated with?

A

IPEX

87
Q

How do Fragile X syndrome and Huntingtons differ?

A

Fragile X is a loss of function mutation

Hungtington’s is a gain of function (gain ability to accumulate)

88
Q

Where does blood get filtered in the spleen?

A

in the red pulp

(outside the germinal centers)

89
Q

What is the principle cause of sickle cell anemia?

A

abnormal form of hemoglobin (HbS)

90
Q

What is the principle cause of thalassemia?

A

lack of globin chains

91
Q

What does a hypoproliferative microcytic anemia represent?

A

Hb production problem

92
Q

Examples of Hb production problems (2)

A

Thalassemia
Iron deficiency anemia

93
Q

MCV and RDW of thalassemia

A

normally presents with a microcytic uniform RBC population

94
Q

MCV and RDW of sickle cell

A

normocytic with increased RDW

95
Q

What is unique about hereditary spherocytosis?

A

MCV is normal but size is decreased due to weird membrane

This drives up the HCHC and makes hered. sphero hyperchromic

96
Q

MCV and RDW of G6PD deficiency

A

macrocytic uniform cells

97
Q

Signs of G6PD deficiency (including inheritance patter)

A

Mediterranean heritage

repeated episodes (illness + foods)

X-linked recessive

98
Q

What does hemolyzed blood indicate?

A

hemolysis of RBCs

reticulocyte count should increase to make up for this loss

99
Q

Hematocrit lab value

A

Ratio of volume of RBS : total blood volume

100
Q

Hypoproliferative normocytic anemia indicates …

A

extrinsic problem (go down morphological pathway due to decreased retic)

101
Q

Ferroportin

A

only iron transporter OUT of cells

102
Q

Hepcidin

A

controls ferroportin

when hepcidin is increased, ferroportin is suppressed

hepcidin decreases iron secretion AND absorption

103
Q

Can pulse oximetry give you any information about hemoglobin level ?

A

no, only tells you what percentage of hemoglobin is bound

this can be a problem if you are anemic but with a normal O2Sat. Oxygenation might be reduced without you realized it

104
Q

What does glutathione require?

A

NADPH which is generated by pentose phosphate shunt

105
Q

What does the Fox3p gene do?

A

promotes T-Reg development

106
Q

Where do T-reg cells work?

A

peripheral tissue

mainly mediate peripheral tolerance

107
Q

Things to know about MEN2

A

medullary thyroid carcinoma

activates receptor tyrosine kinase

108
Q

Things to know about HER2

A

EGFR

PI3K

109
Q

Things to know about RB1

A

sequesters EF2 when hypophosphorylated

Associated with retinal tumors!

110
Q

Clonality

A

cell that recognizes a pathogen will divide when exposed to that pathogen

need more of that specific pathogen to fight!

111
Q

VDJ rearrangement / VJ rearrangement

A

create specificity and diversity in antigen binding sites on lymphocytes

112
Q

MHC I receptors

A

present intracellular antigen to CD8 (cytotoxic T-cells)

use ER and TAP

113
Q

MHC II receptors

A

present extracellular antigen to CD4 (helper T-cell)

proteasomes make peptide in endosome

Fundamentals 1 (29 decks)

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