Contemp quiz 1 Flashcards
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
accountability
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
responsibility
beneficence
doing good, going out of one’s way to do the right thing.
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
autonomy
non-maleficence
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
truthfulness. habitual observance of truth in speech or statement
veracity
moral rightness. Equal and fair distribution of resources, based on analysis of benefits and burdens of decision quality of being just. Fairness
Justice
When is genetic testing appropriate?
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)
Purpose of genetic testing
Purpose is:
- Interpretation: to assess the chance of disease occurrence or recurrence
- education: inheritance, testing, mngtment, prevention, resources, and research
- counseling: promote informed choices and adaptation to the risk or condition
genetics
the science of genes and heridity
genomics
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.
genes
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
Penetrance
- 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
Complete penetrance
all who have the mutation have the clinical Sx
Incomplete penetrance
not everyone who has teh mutation shows clinical Sx
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 _______
mutation
Types of mutations (4)
- 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)
DNA
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
Carrier
has inherited a recessive allele for a genetic trait or mutation but doesn’t display that trait or show Sx of the disease
autosomal
a chromosome that is NOT a sex chromosome
dominant
masks the presence of recessive genes
recessive
can be carried in a person’s genes without appearing in that person
pharmacogenetics
- 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
variants
version of something that differs from the “standard”.
-alleles are variants of a gene (explains diff hair colors)
monozygotic
1 fertilized egg that becomes 2 (identical twins)
dizygotic
2 separately fertilized eggs (fraternal twins)
multifactorial
- 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
SANE stands for
sexual assault nurse examiner
SART stands for
sexual assault response team
What is a SANE nurse
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
a SART is composed of
law enforcement, advocates, SANEs, County attorney’s office, social services offices (if child is involved)
Forensic nursing is
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
father of modern genetics
Gregor Mendel (1822-1884)
- augustinian priest and scientist
- studied the inheritance of different traits in pea plants
What is epigenetics
alterations that can occur in our genetic expression based on environmental and lifestyle factors
consultand
individual seeking genetic counseling (when making a pedigree)
proband
-In most cases, the first affected family member who seeks medical attention for a genetic disorder
Pedigrees: shape for a male
square
Pedigrees: shape for a female
circle
De novo mutation
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.
Paternalism
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.
mutations can be a result of: (3 things)
- oncogeness
- viruses
- epigenetic alterations
oncogenes
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
Viruses
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
epigenetic alterations
Changes in DNA expression that are independent of changes in DNA sequence
Environmental factors
Lifestyle factors
