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N477 > Cell Regulation and Genetics > Flashcards

Cell Regulation and Genetics Flashcards

1
Q

Genetics

A

The study of heredity

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2
Q

Genomics

A

The study of gene s and their functions and related techniques

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3
Q

Chloride levels normal

A

<29

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4
Q

Chloride levels that indicate possible CF

A

30-59

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5
Q

Chloride levels that indicate probable CF diagnosis

A

> 60

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6
Q

Order of daily CF treatment

A
  1. Albuterol by metered dose inhaler
  2. Hypertonic saline
  3. DNase and airway clearance therapy
  4. Other inhaled treatments
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7
Q

No available info on primary tumor

A

Tx

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8
Q

No evidence of primary tumor

A

T0

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9
Q

Only carcinoma in-situ on primary sites

A

TIS

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10
Q

<2cm

A

T1

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11
Q

2-4 cm

A

T2

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12
Q

> 4cm

A

T3

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13
Q

> 4cm, involvement of natrum, pterygoid muscles, base of tongue/skin

A

T4

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14
Q

Not assessed

A

Mx

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15
Q

No evidence

A

M0

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16
Q

Distant metastasis present

A

M1

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17
Q

Can’t be assessed

A

Nx

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18
Q

No clinical positive nodes

A

N0

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19
Q

Single, ipsilateral, <3cm

A

N1

20
Q

Single, ipsilateral, 3-6cm

A

N2a

21
Q

Multiple, ipsilateral, <6cm

A

N2b

22
Q

Massive, ipsilateral/bilateral/contralateral

A

N3

23
Q

Ipsilateral node, one or more than 6cm

A

N3a

24
Q

Bilateral

A

N3b

25
Q

Contralateral

A

N3c

26
Q

External beam radiation

A

Ionizing radiation is directed to tumor site

27
Q

Brachytherapy

A

Radioactive sources like ribbons/seeds/capsules are placed in the body in or near the tumor

28
Q

Breast cancer risk factors (7)

A
  • Ashkenazi jewish
  • BRCA 1/2 mutation
  • Family history of breast/ovarian cancer
  • Oral hormone replacement therapy
  • Ionizing radiation
  • Obesity
  • Alcohol
29
Q

Menopausal side effects of tamoxifen

A
  • Hot flashes
  • Vaginal discharge
30
Q

GINA

A
  • Genetic information non-discrimination act of 2008
  • Prohibits discrimination in health coverage/employment based on genetic info
31
Q

Autosomal dominant

A
  • Mutation of a single gene pair
  • Heterozygous
  • 1 copy of mutated gene needed to get disorder
32
Q

Example of autosomal dominant disorders

A
  • Breast/ovarian cancers d/t BRCA gene mutation
  • Huntington’s Disease
  • Neurofibromatosis
33
Q

Autosomal recessive

A
  • Mutation in 2 gene pairs
  • Homozygous
  • Need 2 copies of mutation to get disorder
34
Q

Examples of autosomal recessive disorders

A
  • CF
  • Sickle cell
  • Tay-sach’s disease
35
Q

X-linked recessive

A
  • Mutation of 1 or 2 gene pairs with 1 mutated gene on the x chromosome
36
Q

Examples of x-link recessive disorders

A
  • Hemophilia
  • Duchenne muscular dystrophy
37
Q

X linked dominant

A

Dominant gene is carried on the X chromosome and only 1 allele is needed to get the disorder

38
Q

CF patio in lungs

A

Mucous builds up and clogs airways, trapping bacteria and causing damage

39
Q

GI effects of CF (5)

A
  • GERD
  • Gallstones
  • Pancreatitis
  • Constipation
  • Distal intestinal obstruction syndrome
40
Q

Pancreas pathology for CF

A

Mucous plugs duct and impairing flow of bile and pancreatic enzymes

41
Q

Pancreatic atrophy leads to

A

CF related diabetes

42
Q

Maldigestion

A

Insufficient production of lipase, amylase, protease causes poor absorption of nutrients

43
Q

Malabsorption

A
  • Steatorrhea
  • Protein
  • Fat soluble vitamins
44
Q

Vitamin deficiency in CF

A
  • A
  • E
  • D
  • K
45
Q

Electrolyte imbalances in CF

A
  • Hyponatremia
  • Hypochloremia
46
Q

Liver effects in CF

A

Bile thickens in gallbladder and causing obstruction

47
Q

S/S of CF in infants (4)

A
  • Meconium ileus
  • Salty sweat
  • Failure to thrive
  • Intestinal obstruction

N477 (13 decks)

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