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Research > Contemp quiz 1 > Flashcards

Contemp quiz 1 Flashcards

1
Q

being liable, answerable to oneself and others for one’s own choices. decisions and actions are measured against a standard such as the Code of Ethics

A

accountability

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2
Q

an obligation. state or fact of being responsible or accountable for something within one’s power, control or mngt. An obligation to perform required professional activities at a level commensurate w/ one’s education and in compliance w applicable laws and standards

A

responsibility

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3
Q

beneficence

A

doing good, going out of one’s way to do the right thing.

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4
Q

independence or freedom, as of the will or one’s actions. Rational self legislation and self determination. Agreement to respect another’s right to self-determine a course of action; support of independent decision making

A

autonomy

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5
Q

non-maleficence

A

not causing harm Avoidance of harm or hurt; core of medical oath and nursing ethics. Ethical principal of doing no harm and balancing unavoidable harm with benefits of good achieved

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6
Q

truthfulness. habitual observance of truth in speech or statement

A

veracity

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7
Q

moral rightness. Equal and fair distribution of resources, based on analysis of benefits and burdens of decision quality of being just. Fairness

A

Justice

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8
Q

When is genetic testing appropriate?

A

SCREE-E
SC: some concern about a condition that “runs in family”
R: reproductive related risk
E: early disease onset
E: ethnicity based risk
E: epigenetic factors (lifestle/behavior, environmental exposures)

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9
Q

Purpose of genetic testing

A

Purpose is:

  1. Interpretation: to assess the chance of disease occurrence or recurrence
  2. education: inheritance, testing, mngtment, prevention, resources, and research
  3. counseling: promote informed choices and adaptation to the risk or condition
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10
Q

genetics

A

the science of genes and heridity

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11
Q

genomics

A

science of the entire genome, “the totality of the chromosomes (and the DNA therein) unique to a particular organism

Genome=the complete set of genes or genetic material present in a cell or organism.

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12
Q

genes

A

functional and physical unity of heredity passed from parent to offspring, an ordered linear segment of nucleotides within a strand of DNA arranged along a chromosome, which codes for a specific protein that results in a particular characteristic or function

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13
Q

Penetrance

A
  • how often (frequency), within a population, a gene is expressed when it is present (as a %)
  • The proportion of individuals w a mutation who exhibit clinical Sx of the disorder
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14
Q

Complete penetrance

A

all who have the mutation have the clinical Sx

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15
Q

Incomplete penetrance

A

not everyone who has teh mutation shows clinical Sx

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16
Q

a sudden departure from the parent type in one or more heritable characteristics, caused by a change in gene or a chromosome. Causes a permanent change in the DNA sequence. This is called a _______

A

mutation

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17
Q

Types of mutations (4)

A
  • inherited
  • de novo (only occurs in an egg or sperm cell or acquired just after fertilizaion)
  • acquired (environmental factors, can alter DNA when the cell replicates)
  • mosaicism (some cells mutate while others do not)
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18
Q

DNA

A

the basic genetic chemical structure, containing gene-coding regions and noncoding regions, that can be compacted into a chromosome form
-line up of base pairs: thymine-adenine; and cytosine-guanine

19
Q

Carrier

A

has inherited a recessive allele for a genetic trait or mutation but doesn’t display that trait or show Sx of the disease

20
Q

autosomal

A

a chromosome that is NOT a sex chromosome

21
Q

dominant

A

masks the presence of recessive genes

22
Q

recessive

A

can be carried in a person’s genes without appearing in that person

23
Q

pharmacogenetics

A
  • study of inherited variations in drug metabolism and response
  • the use of single-gene info in the study of drug development and drug therapy
  • a science that examines the inherited variations in genes that dictate drug response and explores the ways these variations can be used to predict where a pt will have a good response to a drug, a bad response, or no response at all
24
Q

variants

A

version of something that differs from the “standard”.

-alleles are variants of a gene (explains diff hair colors)

25
Q

monozygotic

A

1 fertilized egg that becomes 2 (identical twins)

26
Q

dizygotic

A

2 separately fertilized eggs (fraternal twins)

27
Q

multifactorial

A
  • genetic with definitive environmental exposures needed (type 1 DM; asthma)
  • may cause: variable expressivity-range of signs and Sx that can occur in different ppl with the same genetic disorder
28
Q

SANE stands for

A

sexual assault nurse examiner

29
Q

SART stands for

A

sexual assault response team

30
Q

What is a SANE nurse

A

RNs who have completed specialized education and clinical preparation in the medical forensic care of the pt who has experienced sexual assault or abuse

  • They are specially trained RNs that are PART OF A SART
  • They are forensic nurses
31
Q

a SART is composed of

A

law enforcement, advocates, SANEs, County attorney’s office, social services offices (if child is involved)

32
Q

Forensic nursing is

A

application of nursing science to public or legal proceedings
-just as the nurse provides direct services to individual victims, the SANE also provides consultation services and expert court testimony

33
Q

father of modern genetics

A

Gregor Mendel (1822-1884)

  • augustinian priest and scientist
  • studied the inheritance of different traits in pea plants
34
Q

What is epigenetics

A

alterations that can occur in our genetic expression based on environmental and lifestyle factors

35
Q

consultand

A

individual seeking genetic counseling (when making a pedigree)

36
Q

proband

A

-In most cases, the first affected family member who seeks medical attention for a genetic disorder

37
Q

Pedigrees: shape for a male

A

square

38
Q

Pedigrees: shape for a female

A

circle

39
Q

De novo mutation

A

an alteration in a gene that is present for the first time in one family member as a result of a mutation in a germ cell (egg or sperm) of one of the parents or in the fertilized egg itself.

40
Q

Paternalism

A

Paternalism= Healthcare professionals make decisions about diagnosis, therapy, and prognosis for the patient. Based upon the health care professional’s belief about what is in the best interest of the patient, he/she chooses to reveal or withhold patient information in these three important arenas. This principleis heavily laden as an application of power over the patient.

41
Q

mutations can be a result of: (3 things)

A
  1. oncogeness
  2. viruses
  3. epigenetic alterations
42
Q

oncogenes

A

Oncogenes—mutated gene involved in normal cell growth
 May cause the growth of cancers
 Can be inherited and/or acquired through environmental exposures to substances that damage DNA
 Can circumvent apoptosis
 Cancer = damaged proto oncogenes, and inhibitory tumor suppressor genes

43
Q

Viruses

A

 Mutate & rearrange host genes
 Convert proto-oncogenes to oncogenes
 Alter expression of host gene
 3 hypothesized models-
 Overload leads to loss of mitotic fidelity
 Conflict leads to premature condensing of chromatin leads to breaking of DNA
 Centrosome leads to Asymmetric mitosis leads to loss of mitotic fidelity

44
Q

epigenetic alterations

A

 Changes in DNA expression that are independent of changes in DNA sequence
 Environmental factors
 Lifestyle factors

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