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Unit 2 > Unit 2 - Week 3 - Greenblatt 3, Stein 6 and 7 > Flashcards

Unit 2 - Week 3 - Greenblatt 3, Stein 6 and 7 Flashcards

1
Q

What are the four major categories of fungal infection (mycosis)?

A
  1. Opportunistic
  2. Superficial
  3. Subcutaneous
  4. Systemic
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2
Q

True or False: Superficial mycosis requires thermal dimorphism.

A

False, often growing on cool exterior as hyphae. Subcutaneous involves thermal dimorphism

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3
Q

How would you treat a superficial mycosis infection?

A
  1. Topical azoles

2. If necessary, oral griseofulvin

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4
Q

How would you treat subcutaneous mycosis infection?

A

Oral azoles, and if serious, a short course of Amphotericin B and local surgery

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5
Q

Give an example of a subcutaneous fungal infection?

A

Sporotrichosis, treated with oral itraconazole

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6
Q

Coccidiodes, Histoplasma and Blastomyces are:

A

systemis fungal infections, often mimic TB

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7
Q

What is the only systemic fungal infection that has a distinct spherule shape in human tissue?

A

Coccidiodes immitis

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8
Q

How are the systemic fungal infections spread?

A

ARTHROSPORES are carried on the wind and inhaled.

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9
Q

How do you diagnose a coccidiodes infection?

A

PPD w/ coccidioidin or spherulin:
(+) with exposed w/ cleared or contained infections
(-) if unexposed OR disseminated infection (immunosuppressed)

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10
Q

True or False: Coccidiodes culture on Sabouraud’s agar produces contagious hyphae.

A

TRUE

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11
Q

What is the treatment for disseminated coccidiodes?

A

Amphotericin B or itraconazole

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12
Q

Cryptococcus is best known for what infection?

A

Fungal meningitis

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13
Q

Where is crytptococcus found?

A

Pidgeon droppings

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14
Q

How would you diagnose a cryptococcus infection?

A

CSF and India ink to see yeast with wide capsule
OR periodic acid-Schiff mucicarmine
OR methenamine silver

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15
Q

AIDS patients require _____ for long-term suppression of crytptococcus infection?

A

Fluconazole

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16
Q

Dermatophytoses: ringworm and tinea are examples of:

A

superficial mycoses

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17
Q

How do you diagnose superficial mycoses?

A
  1. PPD w/ trichophytin
  2. Microscopic exam, KOH to break down skin cells, examine remains for yphae/spores
  3. Culture on Sabouraud’s agar
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18
Q

Sporotrucjosis is caused by:

A

Sporothrix spp

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19
Q

How does cryptococcosis present?

A

Only in immunocomprimised, meningitis, skin nodules and/or pulmonary symptoms.

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20
Q

Cultures of sporotrichosis looks like:

A

daisies

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21
Q

Erythema nodosum can be found in:

A

coccidioides infection

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22
Q

What immune response can make coccidioides infection fatal?

A

Immune anergy, like apathy

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23
Q

Why is meningitis harder to discern in crytptococcal infection?

A

Meningitis is subacute, so telltale symptoms may not be present, but people are sicker than they look

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24
Q

Use of flucytosine in cryptoccal infection is only useful in combination with:

A

Amphotericin B

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25
Q

What are the best known microdeletion syndromes?

A

Prader-Willi syndrome

Angelman syndrom

26
Q

What are the clinical characteristics of Prader-Willi syndrome?

A 
Overeating
Bad temper
Developmental delay
Hypogonadism
Small hands and feet
27
Q

What are the clinical features of Angelman syndrome?

A 
Severe mental retardation
Inappropriate syndrome
Hyperactivity
Short
Microcephaly
Siezures
Ataxia
28
Q

For PWS, if a deletion is present, it is on:

A

chromosome 15 from the father

29
Q

For AS, if a deletion is present, it is on:

A

chromosome 15 from the mother

30
Q

Uniparental disomy (UPD) means:

A

A child inherited 2 alleles from the same parent

31
Q

For PWS, if no deletion is present, UPD is seen:

A

from the mother

32
Q

For AS, if no deletion is present, UPD is seed:

A

from the father

33
Q

True or False: UPD cannot be detected by standard karyotype analysis.

A

True, because the homologs will look alike

34
Q

What is the best way to determine UPD?

A

Molecular probe studies

Microarray

35
Q

The expected pattern or chromosome inheritance is 1 chromosome from each parent, called:

A

Biparental heterodisomy

36
Q

What is uniparental isodisomy?

A

2 copies of the same chromosome from 1 parent

37
Q

UPD usually results from:

A

Meiotic nondisjunction errors

38
Q

Uniprental isodisomy is a form of:

A

Rescue, because most monosomies are not compatible with life

39
Q

What is Imprinting?

A

The differential modification of the maternal and paternal genetic contributions to the zygote resulting in the differential expression of parental alleles during development and in the adult.

40
Q

Define methylation:

A

Addition a methyl group to a cytosine residue in the DNA

41
Q

What is the imprinting cause of PWS?

A

The complement is comprised of one chromosome from dad and one from mom, but the paternal chromosome has a maternal imprint resulting in functionally only maternal alleles.

42
Q

What is the imprinting cause of AS?

A

The complement is comprised of one chromosome from dad and one from mom, but the maternal chromosome has a paternal imprint resulting in functionally only paternalalleles.

43
Q

What disease is associated with UBE3A inactivity?

A

Angelman syndrome

44
Q

Define Epigenetics:

A

The study of heritable changes in gene function that are not caused by change in DNA sequence

45
Q

Epigenetic modifications include:

A
  1. chromatin remodeling
  2. DNA methylation
  3. histone modification
46
Q

Downregulation of miRNA caused by ____ at the miRNA promoters is reported in a number of tumors:

A

hypermethylation

47
Q

miR-21 is upregulated in:

A

breast cancer

48
Q

Rett syndrome is linked to mutations in the:

A

MECP2 TF (plus X-inactivation)

49
Q

Why is Rett syndrome almost exclusively female?

A

Because males that lack MECP2 on their X do not survive

50
Q

What is Pharmacogenetics?

A

Heritable variation to inter-individual variation in drug responses

51
Q

What is Pharmacogenomics?

A

The field of new drug development based on our rapidly increasing knowledge of the human genome

52
Q

Cytochrome P450 is a family of genes known for:

A

Its involvement in drug metabolism.

53
Q

What are the classes of drug function metabolism?

A
  1. Ultra
  2. Extensive
  3. Intermediate
  4. Poor
54
Q

What is an ultra metabolizer?

A

A person has duplicate copies of the alleles involved in drug metabolism, and therefore the drug being given is too rapidly degraded to have an effect.

55
Q

Provide an example of a drug that shows significant carying metabolism in the population.

A

6-mercaptopurine for leukemia

56
Q

The synthetic form of coumadin is:

A

warfarin

57
Q

What is the MOA of warfarin?

A

It inhibits the enzyme epoxide reductase resulting in the inhibition of Vitamin K metabolism, which reduces clots.

58
Q

True or False: DNA Microarray can be useful at identifying microduplication.

A

True

59
Q

What is the more politically correct term for consanguinity?

A

Identity by descent

60
Q

When the total regions of homozygosity (ROH) exceed 5% in an individual, the cause it usually:

A

IBD - inbred populations, isolated populations, specific ethnic groups

Unit 2 (11 decks)

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