Test 21- BC Flashcards

1
Q

alpha galactosidase A def

A

Fabry disease that leads to the accumulation of ceramide trihexoside

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2
Q

Skin lesions on lower abdomen (angiokeratomas) and fibroblasts that fail to metabolize ceramide trihexosidase.

A

Fabry disease

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3
Q

without enzyme replacement what can happen to pt’s w/ Fabry’s disease?

A

renal failure

CV failure

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4
Q

result of mutation in leptin gene/receptor

A

hyperphagia and profound obesity

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5
Q

HbF

A

dominates in newborns

2alpha, 2 gamma

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6
Q

Has a high affinity for O2, produced in final 7 mos of gestation

A

HbF

synthesis begins in liver, continues in spleen, then moves to bone marrow

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7
Q

When do infant switch from HbF to HbA?

A

during first 6 mos

2 alpha
2 beta

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8
Q

2 alpha

2 delta Hb

A

Hb A2

Normal variant of human Hb

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9
Q

2 zeta

2 epsilon

A

Hb Gower

earlierst Hb found in fetus, synthesized in yolk sac and replaced by Hb Portland, before Hb F begins at 10-12 weeks

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10
Q

four gamma

A

HbBart (4 allele deletion)

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11
Q

homozygous alpha thalassemia

A

HbBart–has high affinity for O2 and doesn’t release it to tissue> hypoxia>
HYDROPS FETALIS

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12
Q

Plan an important role in mRNA translation regulation and mRNA degradation in the cytoplasm.

A

Cytoplasmic P bodies

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13
Q

Stop codons

A

UGA
UAA
UAG

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14
Q

Right shift

A

ACE BATs (right) handed

Acid
CO2 (increase)
Exercise (increases lactic acid)
2,3- BPG (increase)
Altitude (easier release of O2)
Temperature (heat)

**increase in all factors

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15
Q

Left shift O2-Hb dissociation curve

A

Decreased H (increased pH)
Deceased Co2
Decreased 2,3- BPG
Decreased temp

LUNG left

**decrease in all factors

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16
Q

Anemia affect on pH

A

severe anemia>
lactic acidosis>
lower blood pH> shifts curve right

17
Q

Hypoventilation affect on O2-Hb curve

A

increased CO2>
increased H>
shifts curve right

18
Q

Def of galactose 1-phosphate uridyl transferase

A

Classic galactosemia (imapired galactose 1-P metabolism)

MC cause of galactosemia

19
Q

Vomiting, lethargy and FTT after breastfeeding is begin

A

Classic galactosemia

restrict lactose

20
Q

Galactose in blood and urine and infantile cataracts

A

Galactokinase Def

converts Galactose to Galactose 1-P

21
Q

Affect of radiation exposure on DNA

A

DNA ds fractures and formation of free radicals

22
Q

DNA cross linking

A

alkylating agents used to tx cancer

23
Q

pyrimidine pyrimidine (thymine dimers)

A

UV radiation

24
Q

Defect in fructokinase leading to benign disorder

A

Essential fructosuria

25
Q

Alpha acid glucociadase def

A

causes glycogen storage disease II (Pompe)

Hepatomegaly, cardiomegaly, increased risk of cirrhosis

26
Q

What drives the release of H and Co2 from Hb?

A

Binding of O2 to Hb in the LUNGS (haldane effect)

27
Q

What facilitates unloading of Hb in the tissues?

A

High concentrations of CO2 and H (Borh effect)

28
Q

How do H irons affect Hb?

A

H ions buffer histidine residues on Hb> help stabilize deoxygenate form of Hb and DECREASE its affinity for O2

29
Q

Bleeding gums

Eccymoses nad petechiae and impaired wound healing

A

Lack of vit C impairs collagen hydroyxylation

30
Q

What pop is vit C def most commonly seen in?

A

alcoholics
poor
elderly

31
Q

Perifollicular hemorrheas and coiled (corkscrew) hairs are commonly seen with…

A

vit C def

32
Q

Where does translation of collagen alpha chains occur?

A

RER

33
Q

Where does hydroxylation of proline and lysine residues making up the alpha chains of collagen occur?

A

RER

34
Q

Hydroxylation of proline and lysine residues in collagen helps it to maintain its maximum strength and requires what cofactor

A

Vit C

35
Q

What cofactors are necessary for the converstion of homocysteine to methionine?

A

Methylcobalamin

methyl THF

36
Q

Why is folate metabolism impaired w/ vit B12 def?

A

THF4 can’t be regenerated

37
Q

Two mechanisms that regulate the lac operon:

A
  1. Negative= binding of repressor protein to operator locus

2. postiive- cAMP-CAP binding upstream from promoter region

38
Q

Low glucose

A

increases AC>
increases CAMP>actiates CAP>
binds CAP site and activates promoter>
increased trxn

39
Q

High lactose

A

Unbinds repressor from OPERATOR site>

increased trxn