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Saarman 208 exam 1
genetics cell inury stress
126
Nursing
Undergraduate 3
02/16/2013

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Term
describe the structure of DNA
Definition
DNA looks like a twisted ladder
the rungs are made up of bases, purines-adenine and guanine and pyrimadines-adenine and thyamine. these bases are held together by waek hydrogen bonds
the sides of the ladder are phosphates and sugars held together by stong phosphodiester bonds.
Term
nucleotide
Definition
one unit of DNA, one photsphate, one dioxyribose and one base
Term
codon
Definition
a 3 base long segment of DNA that produces an amino acid when read.
there are only 20 amino acids and 64 codon combinations so some codon combinations produce the same amino acid. a stop codon is a special sequence to stop adding amino acids to the chain, the protein is complete.
Term
mutation
Definition
a mutation is a permanent alteration. can be an adition, a deletion or a replacement, sometimes there is no problem when this occurs because of the repitition among amino acid codons but other times this can be very damaging, changing the amino acid sequence changes the protain produced.
Term
mutagen
Definition
mutagens increase the occurance of mutations.
radiation,chemicals and viruses are common mutagens
Term
gamete
Definition
gamete is a haploid cell, a cell with 1/2 the amount of chromosomes in the human body (23). they are formed during meiosis, they are the egg and the sperm.
Term
somatic cell
Definition
any cell excpeting the sex cells that is diplod (46 chrmosomes).
Term
autosome
Definition
any pair of chromosomes, excpting the sex chromosomes. autosomes are homologus pairs.
Term
karyotype
Definition
the organized display of a persons chromosomes, generally ordered by size.
Term
euploid
Definition
a person with the correct number of chromosomes
Term
polyploidy
Definition
a cell that contains more than 46 chromosomes in a multiple of 23. instead of having 2 copies of a chromosome for a total of 46 a person may have 3 copies of each for a total of 96
Term
aneuploidy
Definition
a cell that has the wrong number of chromosomes. it could have 22, or 24 or any strange numbers. usually caused by nondysjunction.
Term
trisomy
Definition
given three copies of one chromosome, but 2 for all the rest.
trisomy 21 has 3 compies of chromosome 21. this is downs syndrome and the most common cause of downs syndrome is advanced maternal age.
Term
genetic variation of turner syndrome
Definition
only recieves one copie of an x
45 total chromosomes.
Term
6 manifestations of turners syndrome
Definition
female, short, webbed neck, shied chest, wide nipples, imperfect ovaries
Term
describe the genetic variation of klinefelter's syndrome
Definition
XXY
Term
4 manifestations of kleinfelters
Definition
small testes, slightly developed breasts, long limbs, sparse body hair.
Term
clastogen
Definition
a material that can cause breaks in DNA
Term
deletion
Definition
DNA lost from a break in the chromosome
Term
a condition caused by a deletion
Definition
cru du chat. whole arm of choromosome 5 is lost and baby cry sounds like a cat, mental retardation
Term
inversions
Definition
when a break occurs and the piece finds its way back but puts itself in backwards.
Term
fragile sites
Definition
breaks and gaps when you look at the chromosome under a microscope
Term
fragile x syndrome
Definition
individuals with more than 200 cgg repeats. causes mental retaration, mostly male, lacking the FMR1 gene to code for the protein FMRP
Term
locus
Definition
the specific location of each gene on the chromosome
adress
Term
allele
Definition
the form the gene takes
Term
Genotype
Definition
Composition of a gene at a given locus
Term
Pheontype
Definition
The appearance of a person that is formed by both the genotype and the environment.
Term
Dominant
Definition
When heterozygous one allele is shown and one is not the one shown is dominant
Term
Recessive
Definition
The allele that is not shown when heterozygous. Seen only when someone is homozygous for the recessive.
Term
Carrier
Definition
A person who has a disease but is pheontypically normal so you can't tell physically
Term
Polygenic traits
Definition
Several genes must work together for the trait to be expressed.
Term
Multi factorial inheritance
Definition
Have genetic predisposition and environmental factors for the treat to be expressed
Term
Threshold of liability
Definition
Some traits require a certain threshold of genetic and environmental factors to be present before they are expressed
1 example is cleft lip
Term
Penetrance
Definition
The percent of individuals with a specific genotype who also exhibit the expected phenotypic
Term
Incomplete penetrance
Definition
Individuals with the gene do not exhibit the disease to be to type at all
Term
Obligate carrier
Definition
A person who hasn't affected parents and affected children. This means they must carry the gene but they do not express it.
Term
Expressivity
Definition
The extent of variation in a phenotype associated with the particular genotype. It's the range of mild or severe symptoms that can be affected by the environment.
Neurofibromatosis (elephant man)
Term
Epigenetics
Definition
Chemical modifiers that alter the expression of the genes over your life.
DNA methylation is an example.
Term
DNA methylation
Definition
A methyl group attaches to a cytosine base followed by a a guanine base CpG island. Heavy methylation make the gene less likely to be transcribed
Term
Pedigree chart
Definition
Shows family relationships
Term
Proband
Definition
The first person is a family to be diagnosed with the disease
Term
Autosomal dominant
Definition
Rare.
1 affected parent
No generations skipped
50/50 for each child
delayed age of onset

Ex:
Huntingtons disease
Term
Autosomal recessive
Definition
Parents are both carriers
1/4 kids are affected
Parents both have then all kids will have
Ex: cystic fibrosis
Sickle cell
taysachs
Term
X linked inheritance
Definition
Females need two bad x's
Males need only one bad x
Term
lyon hypothesis
Definition
X inactivation
On of the female x's becomes condensed intranuclear chromatin
this explains why males and females have the same number of gene products coded by the x.
Term
Barr body
Definition
Inactivate x
normal females have one barr bodie in each somatic cell
Term
sex determination age
Definition
At 6 weeks in utero
Term
X linked inheritance
Definition
Expressed more in males
Never passed from father-son
Skips generations by carrier females
Father will transmit to all daughters
Term
X linked
Carrier mom and normal dad
Definition
Half sons affected
Half daughter carrier
Term
X linked
Normal mom affected dad
Definition
Sons unaffected
All daughter carrier
Term
X linked
Carrier mom affected dad
Definition
50% daughter carriers
50% daughter affected
50% son normal
50% son affected
Term
Sex limited trait
Definition
Seen in only one sex
Term
Sex influenced trait
Definition
More common in one sex than the other
Ex male pattern baldness
Term
Atrophy
Definition
Cell size shrinks
Term
Physiologic atrophy
Definition
Uterine atrophy after pregnancy
Term
Pathologic atrophy example
Definition
Disuse atrophy
Term
Hypertrophy
Definition
Cell size increase
Term
Physiologic hypertrophy example
Definition
Mammary glands increase in size temporarily for breastfeeding
Term
Pathologic hypertrophy example
Definition
Cardiac muscle increase from atherosclerosis
Term
Dysplasia
Definition
Changes is size, shape of cell
Term
Signifigance of dysplasia
Definition
Could signal cancer
Term
Metaplasia
Definition
Replacement of one cell type with another
Ex smoking causes lungs to go through metaplasia
Term
8 causes cell injury
Definition
Chemical
Hypoxia
Free radicals
Term
Hypoxic cell injury
Definition
Blood falls below critical level to maintain cell viability
Term
5 causes hypoxia
Definition
Ischemia
Chemical
Physical
Infection
Term
Reperfusion injury
Definition
Highly reactive o2 species are formed when 02 is restored to cells resulting in membrane damage
Term
Free radical
Definition
Electronically uncharged atoms with an unpaired electron
Term
3 causes free radicals
Definition
Extreme energy
Redox reactions
Enzymes metabolizing toxins
Term
4 ways free radicals cause damage
Definition
Lipid peroxidation
Ion pump damage
Fragmenting DNA
Damaging mitochondria
Term
Necrosis
Definition
Dead tissue
Term
Coagulative necrosis
Definition
Proteins are denatured due to hypoxia
Term
Liquifactive necrosis
Definition
Neurons amd glial cells autodigest due to ischemia
Term
Caseous necrosis
Definition
Caused by tb,
Looks like a combo of coagulative and liquefactive. Cottage cheese
Term
Fat necrosis
Definition
Triglycerides break down to FFA and combine with ca/mg/na ++ making soap
Term
Dry gangrene
Definition
Coagulative necrosis shrinks and wrinkles
Term
Wet gangrene
Definition
Neutrofils invade and liquefaction occurs
Usually seen in internal organs
Term
Gas gangrene
Definition
Clostridium infects injured tissue and anaerobically produce toxins thay destroy connective tissue and cell membranes as well as leaving gas bubbles in muscles
Term
Apoptosis
Definition
Programmed cell death
Term
Physiologic apoptosis
Definition
Normal course, cells die to make room for new cells
Term
Pathologic apoptosis
Definition
Endogenous stimulus causes apoptosis, like viruses
Term
Apoptosis vs. Necrosis
Definition
Necrosis is result of hypoxia disrupting atp production resulting in starvation where as apoptosis is the cell purposely destroying itself
Term
Laceration
Definition
Skin torn
Term
Avulsion
Definition
Layers of skin have become completely detached
Term
Contusion
Definition
Soft tissue damage
Skin intact
Term
Hematoma
Definition
Local hemorrhage
Term
Abrasion
Definition
Scrape off first layer or so of skin
Term
Allostasis
Definition
The complex actions necessary to maintain homeostasis
Term
3 stages general adaptation syndrome
Definition
Alarm- arousal of body defenses triggers hypothalamic-pituitary-adrenal axis and the sns is activated
Resistance- glucocorticoid secretion normalizes, sns normalizes, flight or fight resolves
Exhaustion- only when adaptation is unsuccessful progressive breakdown of compensatory mechanisms leading to seyle triad of gastic ulcers, adrenal hypertrophy and thymoymphatic hypertrophy, onset of disease
Term
Allostatic load
Definition
Everyday demands
Term
Allostatic overload
Definition
Adaptove mechanisms are overloaded, leads to wear and tear
Term
Reactive response
Definition
Stressor occurs then adaptive response begins
Term
Anticipatory response
Definition
Stressor has not occurred but will be occurring
Term
Conditional response
Definition
A subsequent stressor that is similar will cause adaptive mechanisms to work faster
Term
Neuroendocrine regulation of the stress response
Definition
Sns stimulates release nor epinephrine which stimulates adrenal glands to release catecholamines 20%norepi and 80% epi
At the same time
Hypothalamus releases crh stimulating the pituitary to release adh, prolactin, growth hormone, acth, acth stimulates adrenal to release cortisol
Term
Norepinephrine
Definition
Increase BP, dilates pupils
Term
Epinephrine
Definition
Increase HR and force, increases metabolism to increase glucose supply
Term
Cortisol
Definition
Longer lasting than the catecholamines
Stimulates glucogenesis, catabolizing lipids and muscle, skin, bone for energy
Inhibits certain cells from uptaking energy so the nerves and vital organs get it.
Term
Aldosterone
Definition
Causes Na reabsorbtion in order to keep blood volume high
Term
Endorphines
Definition
Ease pain, increased euphoria
Term
Somatropin
Definition
Increase protein and lipid mobilization for use
Term
Prolactin
Definition
Affects immune cells like lymphocytes which have prolactin receptors
Term
Oxytocin
Definition
Calms
Term
Testosterone
Definition
Decreased amounts during stress, is an immunosupressant
Term
physical effects of stress
Definition
heart attack, increased BP, increased HR, increased respiration rate, sweating, col hands and feet, restlessness, insomnia
Term
behavior effects of stress
Definition
depression, irritability, anxiety
Term
chronic stress effects
Definition
depression, alcoholism, disease, suicide
Term
effects on the nervous system
Definition
tics, fatigue, anxiety
Term
effects on the cardiovascular
Definition
high BP, increase heart rate, stroke
Term
effects on GI
Definition
ulcers, diarrhea, N&V
Term
effects on GU
Definition
diuresis, irritable bladder, meses irregularity
Term
integuement
Definition
exczema, psoriasis, hair loss
Term
respiratory
Definition
asthma, hay fever, increased respiration rate
Term
immune
Definition
deficiency, supression, autoimmune
Term
endocrine
Definition
diabetes, hyperglycemia
Term
musculoskeletal
Definition
tension HA, backache, connective tissue inflammation
Term
Describe primary cognitive appraisal
Definition
Categorization of situations
Irrelevant or no significance
Benign or positive does not exceed resources
Stressful Harmful when stress has occurred
Stressful threat harm is anticipated
Term
Personal factors Affecting cognitive appraisal
Definition
Belief shape our understanding and meaning of the situation
Belief about personal ability to control
Existential believes maintain hope in difficult circumstances
Commitments define what is important to a person
Novelty if not encountered before will not be able to appraise a threat
Predictability the more uncertain the more stressful
Imminent see the more imminent the more stressful
Duration the longer the stress the more harmful its effects
Temporal not knowing when an event will occur the more stressful it will be
Ambiguity the more unclear the more stressful
Timing the stressors occurrence in relation to other events
Term
Physiologic stressors
Definition
Chemical agents genetic disorders nutritional imbalance additional diseases
Term
Psychosocial stressors
Definition
Experiences of others,fear, surviving accidents, historical horror stories
Term
Define adaptation
Definition
The ability to respond to physical and psychological stressors in return to homeostasis
Term
9 factors that influence adaptation
Definition
Physiologic reserves the ability to meet the need to adapt
Time it is easier to adopt overtime
Genetic endowment
Nutrition obesity and now nutrition both to decrease abilities
Sleep cycles disorders and alterations alter immune system
Hardiness believing in personal control and ability to see stressors as a challenge
Social support
Term
Define coping
Definition
Set of behaviors a person adopts when facing stress
Term
2 main types of coping according to Lazarus
Definition
Problem focused coping any temp to change one's on mental reaction seeking information and problem solving
Emotion focused coping changing the meaning of the situation that is stressful
Term
5 modes of coping according to Lazarus
Definition
Information seeking reduces powerlessness
Direct action facing a stressor identifies the source and why you are having it
Inhibition of action
Seeking social support
Using intrapsychic mechanisms
Term
6 coping resources
Definition
Health and energy
Positive beliefs
problem solving skills
social skills
social support
material resources
Term
4 constraints on coping
Definition
Personal culturally derived norms
and values
Physical nutrition drugs pain sleep
Environmental sensory overload isolation
Psychological and experience and coping and poor self esteem
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