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M/N Flashcards

1
Q

Lesh Nyhan leads to what type of anemia

A

megablastic

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2
Q

what is the main feature of megablastic anemia

A

hypersegmented nuclei

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3
Q

what is seen in a RBC smear in someone with lead poisoning

A

basophilc stippling

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4
Q

acanthocytes are seen in a RBC from a patient with what condition

A

abetalipoproteinemia

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5
Q

schistocytes are seen in a RBC from a patient with what condition

A

disseminated intravascular coagulation

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6
Q

what is the chemical reaction of aldolase B, the enzyme deficient in essential fructose intolerance

A

fructose 1P–>DHAP+glyceraldehyde

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7
Q

male internal genitalia, virilized female external genitalia (clitoromegaly), and male nongenital development at puberty (muscle mass). what enzyme is deficient

A

5 alpha reductase

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8
Q

Burton lines (blue lines along the gums) are characteristic of __

A

lead poisoning

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9
Q

The __ release leads to bronchoconstriction in asthma

A

leukotriene C4

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10
Q

____ is instrumental in modulating and inhibiting behaviors. Levels have been shown to be low in people who are impulsive and/or repeatedly violent

A

serotonin

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11
Q

neurotransmitter involved in the brain’s consolidation of memories

A

acetylcholine

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12
Q

neurotransmitter involved in motivation and the initiation of behavior

A

dopamine

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13
Q

___ deficiency most often leads to high androgens (virilization) and decreased mineralocorticoid levels, causing hypotension, volume depletion, hyponatremia, and hyperkalemia

A

21-Hydroxylase

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14
Q

what is the main mineralcorticoid

A

aldosterone

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15
Q
A
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16
Q
A
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17
Q
A
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18
Q

Symptoms of Chédiak-Higashi syndrome include (4)

A

albinism
recurrent infections
peripheral neuropathy
easy bruising

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19
Q

Niemann-Pick disease, caused by _____ deficiency

A

sphingomyelinase

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20
Q

Gaucher disease is a lysosomal storage disease due to a deficiency in ____

A

β-glucosidase (glucocerebrosidase)

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21
Q

Krabbe disease is due to a deficiency in ____

A

galactocerebrosidase

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22
Q

___ deficiency presents with hemolytic anemia as a result of oxidative challenge, for example, taking sulfa drugs

A

G6PD

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23
Q

CF is an autosomal recessive genetic disorder due to a ___ CFTR membrane protein leading to dysfunction of Na+ and Cl– membrane transport

A

misfolded

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24
Q

____ deficiency causes Fabry disease

A

α-Galactosidase

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25
Q

____ deficiency causes Gaucher disease

A

β-Glucocerebrosidase

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26
Q

____ deficiency causes McArdle disease

A

Glycogen phosphorylase

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27
Q

___ is the substrate for NADPH oxidase

A

Oxygen

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28
Q

___ is the substrate for myeloperoxidase

A

Hydrogen peroxide

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29
Q

____ is the substrate for superoxide dismutase, which converts it into hydrogen peroxide.

A

Superoxide

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30
Q

organophosphates inhibit ___ which leads to an accumulation of __ in the cytosol

A

acetylcholinesterase
IP3

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31
Q

__ and __ inhibit PFK-1, the rate limiting enzyme of glycolysis

A

ATP
citrate

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32
Q

A patient is diagnosed with a deficiency in acetyl-CoA carboxylase. What metabolite is most likely to be deficient in this patient?

A

malonyl CoA

Acetyl-CoA carboxylase catalyzes the rate-limiting step of fatty acid synthesis, the carboxylation of acetyl-CoA to malonyl-CoA, a substrate for fatty acid synthase.

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33
Q

In COPD, the inability to exhale completely leads to a build-up of CO2 in the lungs and blood, causing an accumulation of what enzyme

A

carbonic anhydrase

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34
Q
A
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35
Q

Developmental regression, hearing loss, abdominal pain, vomiting, and constipation and an elevated levels of erythrocyte protoporphyrin are characteristic of ___

A

lead poisoning

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36
Q

During the fasting state, and even more so during starvation, glucagon activates what enzyme in the liver, thereby stimulating gluconeogenesis

A

fructose-1,6-bisphosphatase (FBPase-1)

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37
Q

Which mechanism involved in muscle contraction is most directly impaired with lack of ATP

A

release of actin from myosin

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38
Q

Deficiency in ____ is associated with metachromatic leukodystrophy, which leads to neurologic symptoms, including gait abnormalities, developmental delay, behavioral changes, and memory problems, as well as optic atrophy

A

arylsulfatase A

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39
Q

___ deficiency is associated with Krabbe disease, which results in optic atrophy, spasticity, and early death.

A

Galactosylceramide

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40
Q

Type III collagen helps form ___

A

the walls of arteries and digestive tract

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41
Q

Type I collagen is an important component of ____

A

bones, skin, and tendons

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42
Q

What mechanism describes how exercise will reduce this patient’s hyperglycemia

A

Exercise results in both upregulated expression of the glucose transmitter type 4 (GLUT4) protein and increased translocation of GLUT4 to the cell surface from intracellular stores, increasing cellular glucose uptake

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43
Q

endorphins bind to what type of receptors

A

GPCR

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44
Q

Hartnup disease is characterized by dermatitis, diarrhea, and dementia. What amino acid is involved

A

tryptophan

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45
Q

decreased C peptide and hyperglycemia is evident of what disease

A

type I diabetes

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46
Q

the hormone that causes type one diabetes is stored in what organelle

A

rough ER (insulin)

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47
Q

normal carboxyhemoglobin, decreased blood pH, and nonresponsive hypoxemia is evident of CO or cyanide poisoning from a house fire

A

cyanide

*normal carboxyhemoglobin= cyanide poisoning

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48
Q

during an allergic reaction, what receptors are activated, why

A

GPCR (CCC pathway) due to release of histamine

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49
Q

bronchodilators such as albuterol used for asthma act with what receptor

A

Gs

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50
Q

___, also known as “lecithin,” is the dominant component of pulmonary surfactant, which may be given to neonates with neonatal respiratory distress syndrome (NRDS) at birth

A

Phosphatidylcholine

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51
Q

T hemoglobin predominates in environments with low-oxygen tension. Such environments include ____

A

peripheral capillaries

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52
Q

R hemoglobin form predominates in environments with high-oxygen tension, such as the __, __, __, and __

A

pulmonary capillary bed
coronary arteries
femoral arteries
pulmonary veins

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53
Q

severe diarrhea leads to loss of ___

A

HCO3-

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54
Q

foam cells

disease and what accumulates

A

Niemann Pick
sphingomyelin

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55
Q
A
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56
Q

with gel electrophoresis, where at what end will HbC been seen, why

A

near - end because it contains a positively charged lysine

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57
Q
A
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58
Q

Cutis aplasia is characteristic of ___

A

trisomy 13 (Patau syndrome)

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59
Q
A
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60
Q
A
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61
Q

type 1 diabetes, type 2 diabetes, hypertension, androgenic alopecia, atopy, psoriasis, schizophrenia, and Alzheimer disease are all associated with what genetic phenomenon

A

polygenic inheritance (a trait controlled by the interaction of two or more genes at different loci, without interaction with the environment)

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62
Q
A
63
Q
A

In both liver and muscle, epinephrine binds a beta-adrenergic G protein-coupled receptor, activating a second messenger cascade that results in the promotion of glycogenolysis (glycogen breakdown) and inhibition of glycogenesis (glycogen synthesis).

64
Q

recurrent respiratory infection
nail bed clubbing
increased liver enzymes

A

cystic fibrosis

64
Q

low 17 alpha enzyme= high or low BP

A

high

65
Q

Colchicine, an anti-inflammatory drug works by ___

A

inhibiting microtubule polymerization

66
Q

what medication is commonly prescribed for rheumatoid arthritis

A

methotrexonate

67
Q

sideroblastic anemia occurs due to a deficiency in __

A

B6

68
Q

Hematuria, flank pain, hypertension, and bilaterally enlarged cystic kidneys suggest a diagnosis of _____

A

autosomal dominant polycystic kidney disease (ADPKD)

69
Q

Autosomal dominant polycystic kidney disease (ADPKD) results from a mutation in the PKD-1 gene on the short arm of chromosome ___

A

16

70
Q

Why is administration of B1 given before dextrose in a patient with B1 deficiency (ex: in Wernicke encephalopathy)?

A

to ensure alpha ketoglutarate dehydrogenase will be working. This will prevent the patient from going into lactic acidosis

alpha ketoglutarate dehydrogenase used vit B1 as a cofactor

71
Q

testicular hypoplasia
impaired fertility
gynecomastia
tall, slender stature

A

Klinefelters

72
Q

amino acid with a ring structure in its R group and two nitrogen molecules

A

histidine

73
Q

N-acetyl-p-benzoquinoneimine (NAPQI) is a toxic breakdown product of acetaminophen. At therapeutic doses, glutathione acts to inhibit toxic NAPQI. However, in cases of acetaminophen overdose, glutathione reserves are depleted and concentrations of NAPQI build up, ultimately leading to ____

A

acute liver failure

74
Q

Waterhouse-Friderichsen syndrome is a rare but potentially lethal complication of infection by ___

A

N. meningiditis (meningococcal meningitis)

75
Q

carbol fuchsin staining is used to stain what bacteria

A

mycobacterium (ex: nocardia)

76
Q

non-lactose fermenting, oxidase-positive, gram-negative rod

A

pseudomonas aeruginosa

77
Q

Zidovudine is a nucleoside reverse transcriptase inhibitor used for ___

A

HIV and post exposure HIV prophylaxis in neonates

78
Q

what is the function of protein A of staph aureus

A

binds to Fc of IgG, preventing opsonization and phagocytosis

79
Q

staph. aureus is able to cause food poisoning due to a release of ___

A

endotoxin

80
Q

one sided leg weakness
no childhood vaccines
increased protein level

A

poliovirus

81
Q

high ADH, low plasma osmolarity can be caused by __

A

SIADH (syndrome of inappropriate antidiuretic hormone)

82
Q

acute intermittent porphyria (AIP) has what inheritance pattern

A

autosomal dominant

83
Q

severe alpha 1 antitrypsin deficiency has the genotype

A

PiZZ

84
Q

normal level of alpha 1 antitrypsin has the genotype

A

PiMM

85
Q

A positive reducing substance urine test along with a negative glucose oxidase test indicates the presence of a ____ in this infant’s urine

A

sugar other than glucose

86
Q

Ingestion of improperly prepared pufferfish can result in intoxication with ___

A

tetrodotoxin

87
Q

Tetrodotoxin, a toxin found in improperly cooked pufferfish, acts by ____

A

blocking voltage-gated sodium channels

88
Q

breastmilk is low in what vitamin or mineral?

A

vitamin K

89
Q

duodenal atresia
atrioventricular septal defect
leukocytosis

A

Down syndrome

90
Q

What is the pathogenesis behind myasthenia gravis?

A

type II HSR against acetylcholine receptors

91
Q
A
92
Q

to treat alcohol poisoning, the drug prescribed acts to ___

A

inhibit alcohol dehydrogenase

93
Q

short stature
midface retrusion
prominent forehead
nose flattening
disproportionate extremity length

A

achondroplasia

94
Q

examples of complete penetrance are

A

achondroplasia
neurofibromatosis type I
Huntingtons

95
Q

high niacin can lead to what adverse effect

A

facial flushing

96
Q

Cimetidine drug has what effect

A

increases cAMP

97
Q

Rett syndrome is characterized by __ (4)

A

progressive loss of motor and speech skills
hand wringing
ataxia
failure to thrive

98
Q

what molecule stimulates histone acetylation

A

retinoic acid (vitamin A)

99
Q

Increased ratio of NADH/NAD+ inhibits the citric acid cycle, which results in an accumulation of acetyl-CoA. NADH and acetyl-CoA are both ____ products and thus inhibit _____ activity.

A

pyruvate dehydrogenase reaction
pyruvate dehydrogenase

100
Q

heme oxygenase breaks down heme to __

A

biliverdin

101
Q

Involuntary facial muscle contractions when tapping on the cheek (Chvostek sign) is seen in what condition

A

hypocalcemia

102
Q
A
103
Q

osteopenia with an epiphyseal widening of the wrist are suggestive of ___

A

rickets (vitamin D deficiency)

104
Q

decreased vitamin D= __ serum calcium, __ serum phosphate, __ serum PTH

A

decreased vit D= decreased calcium, decreased phosphorus, increased PTH

105
Q

Kernicterus occurs to the deposition of unconjugated bilirubin in the basal ganglia. This occurs due to impaired ___

A

glucuronidation of bilirubin

106
Q
A
107
Q

Neurophysins are carrier proteins that transport the hormones ___ and ___ to the posterior pituitary gland from the paraventricular nucleus and supraoptic nucleus of the hypothalamus

A

oxytocin and vasopressin

108
Q

Carbon monoxide has high affinity for what enzyme of the ETC? What complex is this?

A

cytochrome c oxidase
complex IV

109
Q

What state leads to an increase in stool osmotic gap?

A

osmotic diarrhea (ex: lactose intolerance)

110
Q

Abdominal pain, swelling of the extremities (without urticaria or pruritus), and dyspnea secondary to edema of the lips and tongue after a triggering incident (dental work). These findings, together with a family history of recurrent orofacial swelling, are indicative of ___

A

hereditary angioedema (HAE)

111
Q

hereditary angioedema (HAE) is caused by a deficiency of ___

A

C1 esterase inhibitor (suppresses complement)

112
Q

Treatment for hereditary angioedema (HAE) includes use of a ____

A

antagonist at bradykinin receptor

113
Q

what vitamin is used for differentiation of epithelial cells

A

vitamin A

114
Q

Post blood transfusion can lead to hypocalcemia due to ___

A

chelation of calcium by citrate

115
Q

Keloids form as a result of __ and __

A

trauma
excess tissue growth

116
Q

Keloids are the result of overproduction of __

A

hyalinized cartilage due to hyperproliferation of fibroblasts

117
Q

decreased production of 1,25 dihydroxycalciferol can be due to __ failure

A

kidney

118
Q

excessive burns lead to hyper___

A

hyperkalemia (high K+)

(any cause of significant tissue breakdown (e.g., significant burn or crush injuries), releases excess potassium into the extracellular space)

119
Q

CO competitively binds to ___

A

heme

120
Q

in pregnancy, increased __–>increased insulin–> increased C peptide

A

human placental lactogen

121
Q

desmopressin is an analog of vasopressin which acts as an ____

A

antidiuretic hormone

122
Q

desmopressin uses what receptor type

A

Gs (increased adenylate cyclase)

123
Q

what enzyme of DNA replication results in single stranded DNA breaks

A

topoisomerase I

124
Q

treatment for hypertension= lisinopril
lisinopril acts as an inhibitor of ___, which acts to produce NO

A

ACE

125
Q

female patient with acute lymphoblastic leukemia now has genotype XY, why

A

she received a blood transfusion from a sex type mismatch

126
Q

aminotransferase enzymes use what as a cofactor

A

B6

127
Q

Failure to thrive, muscle spasticity, weakness, developmental delay, and history of seizure, in combination with laboratory findings of mild hyperammonemia and increased urinary orotic acid, are concerning for a diagnosis of ___

A

arginase deficiency

128
Q

Recurrent respiratory infections, fat malabsorption, and failure to thrive are concerning for ____

A

cystic fibrosis

129
Q

what is physiological pH

A

7.35-7.45

130
Q

increased anion gap–>high or lower pH

A

lower

131
Q

metyrapone stimulation testing is used to detect pituitary dysfunction that results in impaired ___ secretion

A

ACTH

132
Q

alternative splicing performed by spliceosomes are involved in post-transcriptional or post-translational modification?

A

post-transcription

133
Q

encapsulated lipid nanoparticle= what type of vaccine

A

mRNA

134
Q

wrinkles are due to a decrease in what fibers

A

elastin

135
Q

myeloperoxidase is used to clear what main infection

A

candida albicans

136
Q

positive nitroblue test indicated NADPH oxidase is or isn’t working

A

is

137
Q

vomiting results in:
__K+
__Na+
__Cl-
__Ca+

A

decreased
decreased
decreased
decreased

138
Q

Rapidly worsening vision
circumpapillary telangiectasia on fundoscopy
mutation affecting the mitochondrial electron transport chain

A

Leber hereditary optic neuropathy

*mitochondrial inheritance

139
Q

what does peripheral 5’-deiodinase do

A

converts the less potent T4 into the biologically active T3

140
Q

zinc deficiency can be seen as ___ and __

A

patch of hair loss
abnormal smell/taste

141
Q

murmur increases in intensity when moving from a squatting to standing position, decreases when clenching fists

A

hypertrophic cardiomyopathy

142
Q

hypertrophic cardiomyopathy defect

A

myosin heavy chain

143
Q

multiple cancers in the family at a young age

A

Li-Fraumeni syndrome

144
Q

Multiple cancers in the family at an early age represents Li-Fraumeni syndrome. Li-Fraumeni syndrome is due to ____

A

loss of heterozygosity in p53

145
Q

Sensorineural hearing loss in a patient with renal disease and a positive family history is indicative of _____

A

Alport syndrome

146
Q

aspirin and ibuprofen inhibit COX, inhibiting the conversion of __ to __

A

arachidonic acid–>prostaglandin G2

147
Q

what inheritance pattern is Wilson’s disease

A

autosomal recessive

148
Q

hypothyroidism leads to a decreased production of vitamin __

A

A

149
Q

Rb gene mutation leads to an increased risk of developing __

A

osteosarcoma

150
Q

muscle spasms of the hands and feet are due to a decrease of what hormone

A

parathyroid

151
Q

collagen is composed on a __ structure

A

triple heliz

152
Q

collagen is composed on a __ structure

A

triple helix

153
Q

increased concentrations of metanephrine and vanillylmandelic acid with high blood pressure can be due to a tumor that secretes ___

A

epinephrine

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