Pathophysiology Test 1 Material

Front 1

define homeostasis

Back 1

a state in which all symptoms are
in balance at an ideal “set point” despite
alterations within the body

Front 2

define homeostatic response

Back 2

mechanistic, predictable
series of orchestrated internal events

Front 3

define allostasis

Back 3

addresses complexities and variable
levels of activity necessary to maintain or reestablish
homeostasis

Front 4

what is allostasis carried out by?

Back 4

a superordinate set of systems
that support homeostasis in light of
environmental and lifestyle changes

Front 5

define stress

Back 5

Stress: physical, chemical, or emotional factor
resulting in tension of body or mind
 Or an actual state that tension produces

Front 6

is all stress bad? Give example

Back 6

Not all stress is bad
For example, bone loss is prevented by weight or
stress on the skeleton

Front 7

what are the three components of General Adaptation 'Syndrome? (GAS)

Back 7

an alarm reaction
a stage of resistance
stage of exhaustion

Front 8

at what stage of GAS does pathologic development occur?

Back 8

stage of exhaustion

Front 9

describe the alarm reaction of GAS

Back 9

fight‐or‐flight response due to
stressful stimulus

Front 10

describe the stage of resistance

Back 10

The activity of the nervous
and endocrine systems in returning the body to
homeostasis

Front 11

describe the stage of exhaustion

Back 11

point where body can no
longer return to homeostasis

Front 12

what is allostatic overload?

Back 12

“cost” of body’s organs and tissues for an excessive or ineffectively regulated allostatic response

Front 13

what are agents or conditions that can produce stress and endanger homeostasis

Back 13

stressors

Front 14

what are conditions or
situations that increase the likelihood of
encountering a stressor

Back 14

risk factors

Front 15

which body system response mediates
the flight‐or‐fight response

Back 15

sympathico-adrenal

Front 16

which neurohormonal mediators play an integral role in allostasis?

Back 16

Catecholamines: norepinephrine and
epinephrine

Front 17

what are the two adrenocortical steroids involved in homeostasis?

Back 17

cortisol and
aldosterone

Front 18

what are the body's natural pain relievers?

Back 18

Endorphins and enkephalins: endogenous
opioids

Front 19

what substances are secreted
by macrophages during stress response, thus
enhancing immune system response

Back 19

immune cytokines

Front 20

what are the sex hormones which affect stress responses

Back 20

estrogen testosterone, and dhea (dehydroepiandrosterone)

Front 21

how do the following affect strees responses
1. estrogen
2. testosterone
3. DHEA

Back 21

Estrogen: “calming” effect during stress
 Testosterone: ramps up fight or flight response
(↑BP, ↑HR)
 DHEA: counteracts the catabolic effects of
glucocorticoids on bone; counteracts depression
associated with glucocorticoid secretion

Front 22

How do the following affect stress responses:
1. growth hormone
2. prolactin
3. oxytocin

Back 22

Growth hormone: can increase during stress to
enhance immune function
 Prolactin: similar to structure of growth
hormone; role in immune response
 Oxytocin: produced during childbirth and
lactation; associated with bonding and social
attachment; thought to moderate stress
response

Front 23

what are the effects of stress response influenced by?

Back 23

influenced by
genetics, culture, prior susceptibilities,
preexisting health status, allostatic state, and
ability to manage stress

Front 24

what is the biopsychosocial process of change
in response to new or altered circumstances,
internal or external in origin

Back 24

adaptation

Front 25

what is behavioral adaptive response to a stressor using culturally based coping mechanisms

Back 25

coping

Front 26

what is allostatic overload? what results from it?

Back 26

inadequate adaptation
mechanisms or overwhelming allostatic load;
results in inability to maintain homeostasis
 Pathophysiologic states result affects all areas of
the body and emotional systems

Front 27

what is usually the first manifestation of most forms of reversible cell injury?

Back 27

hydropic swelling: cellular swelling due to accumulation of water

Front 28

what causes hydropic swelling?

Back 28

malfunction of sodium‐potassium
pump with accumulation of sodium ions within
the cell
 “water follows salt” rule
 Any injury that results in loss of energy (ATP)
will also result in swelling

Front 29

describe what hydropic swelling is characterized by

Back 29

Characterized by large, pale cytoplasm; dilated
endoplasmic reticulum; and swollen mitochondria

Front 30

Generalized swelling (hydropic) of cells in organs can lead to what?

Back 30

increase in size and weight, indicated by “megaly”
 i.e., liver, heart, spleen

Front 31

what is another cause of reversible cell injury besides hydropic swelling?

Back 31

intracellular accumulations

Front 32

describe intracellular accumulations

Back 32

Excess accumulations of substances in cells may
lead to cellular injury due to toxicity, immune
response, and/or taking up cellular space
 Characterized by:
 Excessive amounts of normal intracellular
substance
 Lipids, CHO, proteins, glycogen

Front 33

what are the four causes of intracellular accumulations

Back 33

1. Abnormal metabolism (i.e.,
fat)
2. Defect in protein
folding transport (i e heat Shock Proteins)
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i.e., 3. Enzyme deficient or
absent (i.e., inborn errors of
metabolism)
4. Accumulation of indigestible
materials (i.e., Ca+2, dust

Front 34

where is a common site of intracellular accumulations?

Back 34

the liver

Front 35

lipid accumulation in hepatic cells would be inconsidered

Back 35

intercelluar accumulation

Front 36

what are the 5 kinds of cellular adaptation?

Back 36

atrophy
hypertrophy
hyperplasia
metaplasia
dysplasia

Front 37

when cells shrink and reduce their differentiated
functions in response to normal and injurious factors, its called

Back 37

atrophy

Front 38

what are some general causes of cell atrophy

Back 38

Disuse
 Denervation
 Ischemia
 Nutrient starvation
 Interruption of endocrine signals (i.e., GH)
 Persistent cell injury
 Aging

Front 39

.

Back 39

.

Front 40

when there is increase in cell mass accompanied
by an augmented functional capacity in response to physiologic and pathophysiologic
demands, it is called:
 Cell size increases/cell number remains same

Back 40

hypertrophy

Front 41

define hyperplasia

Back 41

increase in functional capacity
related to an increase in cell number due to
mitotic division
 Usually in response to increased physiologic
demands or hormonal stimulation
 New cells

Front 42

define metaplasia

Back 42

replacement of one differentiated cell type with another
 Most often as an adaptation to persistent injury,
with replacement of a cell type that is better
suited to tolerate injurious stimulation
 Fully reversible when injurious stimulation is
removed

Front 43

define dysplasia

Back 43

disorganized appearance of cells
because of abnormal variations in size, shape,
and arrangement
 Represents an adaptive effort gone astray
 Significant potential to transform into cancerous
cells, thus referred to as preneoplastic lesions

Front 44

describe necrosis

Back 44

Usually occurs as a consequence of ischemia or
toxic injury
 Characterized by cell rupture, spilling of contents into extracellular fluid, and inflammation

Front 45

what are the four types of necrosis?

Back 45

1. coagulative
2. liquefactive
3. fat necrosis
4. caseous necrosis

Front 46

describe coagulative tissue necrosis

Back 46

(most common type): process that
begins with ischemia and ends with degradation
of plasma membrane
 Ischemialoss of PM ability to maintain electrolyte
gradient↑↑Ca+2 influx/mitochondrial
dysfunctiondegradation of PM and nuclear structures

Front 47

describe liquifactive tissue necrosis

Back 47

occurs with dissolution of dead
cells, liquification of lysosomal enzymes, and formation of abscess or cyst from dissolved dead tissue

Front 48

fat necrosis involves what?
What is it usually the result of?
describe it

Back 48

Death of adipose tissue
 Usually Usua y the result of trauma or pancreatitis
 Appears as a chalky white area of tissue

Front 49

describe caseous necrosis

Back 49

Characteristic of lung damage secondary to tuberculosis
 Resembles clumpy cheese
 White, soft, fragile tissue—dead cells walled off

Front 50

what is Casper's law? (extra credit)

Back 50

if all other factors are equal, then, when there is free access to air, a body decays twice as fast compared to if immersed in water and eight times faster compared to burial in earth. Bacterial decomposition is dependent on temperature.

Front 51

.

Back 51

.

Front 52

Barrett's Esophagust is an example of

Back 52

metaplasia
In GERD), there is a backflow of gastric contents through the lower esophageal sphincter. The highly acidic gastric contents cause damage to the lining of the esophagus, which is coated with normal squamous epithelium (like inside of your cheek). Over time, columnar tissue replaces the squamous epithelium.

Front 53

how long does it take for rigor mortis to set in? Why does it happen?

Back 53

Within 6 hours, Ca++ accumulates and with failure of the ATP pumps the actin-myosin cross-bridges (in skeletal muscle) become permanently fixed—thus the stiffness of the muscles

Front 54

Cellular death in a large area of tissue
 Results from interruption of blood supply to a
particular part of the body
is called:

Back 54

gangrene

Front 55

dry gangrene is a form of what type of necrosis?

Back 55

coagulative

Front 56

wet gangrene is a form of what type of necrosis?

Back 56

liquefactive necrosis - typically found in internal organs

Front 57

what's another word for Cell suicide?

Back 57

apoptosis

Front 58

what causes apoptosis

Back 58

Occurs in response to injury that does not
directly kill the cell, but triggers intracellular
cascades that activate a cellular suicide response

Front 59

describe apoptosis

Back 59

Not always a pathologic process
 Does not cause inflammation
 “Clean” process compared to necrosis
 Less damage, inflammation

Front 60

what are the Two Types of Environmental or Extrinsic
Signals that May Induce Apoptosis

Back 60

Withdrawal of “survival” signals that normally
suppress apoptotic pathways, such as observed
with cancer cells
 Extracellular signals, such as the Fas ligand,
bind to the cell and trigger death cascade
through activation of “death receptors

Front 61

.

Back 61

.

Front 62

what is the most common cause of cell injury?

Back 62

ischemia

Front 63

why does ischemia injure cells faster than hypoxia alone?

Back 63

because ischemia results in a Combination of disruption of oxygen supply with accumulation of metabolic waste

Front 64

what are the 5 kinds of cellular adaptation?

Back 64

atrophy
hypertrophy
hyperplasia
metaplasia
dysplasia

Front 65

when cells shrink and reduce their differentiated
functions in response to normal and injurious factors, its called

Back 65

atrophy

Front 66

what are some general causes of cell atrophy

Back 66

Disuse
 Denervation
 Ischemia
 Nutrient starvation
 Interruption of endocrine signals (i.e., GH)
 Persistent cell injury
 Aging

Front 67

.

Back 67

.

Front 68

when there is increase in cell mass accompanied
by an augmented functional capacity in response to physiologic and pathophysiologic
demands, it is called:
 Cell size increases/cell number remains same

Back 68

hypertrophy

Front 69

give an example of apoptosis triggered by intrinsic pathways

Back 69

In response to severe cell damage, a protein (p53,
which is normally low in the body) will increase
in response to cellular DNA damage, triggering
the cell’s own death
 Involves numerous intracellular signals and
enzymes

Front 70

describe the etiology of hypoxia induced cellular injury

Back 70

Hypoxia causes ATP
To stall, Na+/K+/Ca++
Pumps then fail
Hydropic swelling,
Ca++ buildup damages
mitochondria…
end product of glycolysis
(pyruvate) accumulates
and converts to lactate
causes lactic acidosis which damages the cell membrane

Front 71

.

Back 71

.

Front 72

nutritional injuries to the cells may result for deficiencies caused by

Back 72

Poor intake
 Altered absorption
 Impaired distribution by circulatory system
 Inefficient cellular uptake

Front 73

cell injury may result form infectious and immunologic injury depending on its ____________
added injury may occur indirectly by triggering _______``

Back 73

virulence
the body's immune response

Front 74

Toxic chemicals or poisons can cause cellular
injury both indirectly and by becoming __________ by the body

Back 74

metabolized into reactive chemicals

Front 75

what are some physical and mechanical injury causes?

Back 75

Extremes in temperature
 Abrupt changes in atmospheric pressure
 Mechanical deformation
 Electricity
 Ionizing radiation

Front 76

what is the theory by which cellular aging occurs?

Back 76

chromosomes shrink as we age and eventually the telomeres become too short to replicate

Front 77

what is somatic death? describe it

Back 77

Death of the entire organism
 No inflammation or immunologic response
occurs prior to death
 General features include cessation of
respirations and heartbeat

Front 78

what do the nucleotide base abbreviations
G
C
A
T
U
stand for

Back 78

guanine
cytosine
adenine
thymine
uracil

Front 79

what are the two types of nucleotide bases?

Back 79

pyrimidines: single-ring structures (cytosine & thymine)
purines: double-ring structures (guanine & adenine)

Front 80

what type of bonds link the nucleotide bases to eachother?

Back 80

hydrogen bonds: weak bonds that are easily broken and don't cause damage when broken

Front 81

a nucleotide consists of what?

Back 81

a sugar (deoxyribose), a phosphate group, and one of the four nucleotide bases.

Front 82

nucleotides are joined by ____________to form long chains called ____________

Back 82

repeating sugar-phospate bonds
polymers

Front 83

the DNA polymers are then wound around ________ to form bead-like structures called__________

Back 83

histones
nucleosomes

Front 84

the nucleosomes become tightly coiled into _________ during cell division

Back 84

chromosomes

Front 85

what do initiator proteins do?

Back 85

pull DNA strands apart at the replication origins (the starting point for replication)

Front 86

during dna replication, what happens when the undwinding DNA becomes overly twisted?

Back 86

topoisomerases cut nicks in DNA
 Allow it to unwind, and prevent tangling
 Ligases repair nicks

Front 87

what does DNA polymerase do?

Back 87

binds to the single DNA strands and begins the process of forming new complementary DNA Strands
Match appropriate base to template base
 Catalyze formation of sugar‐phosphate bonds
that form backbone of DNA strand

Front 88

.

Back 88

.

Front 89

Replication proceeds along DNA strand from ___
end toward ____ end only

Back 89

3' towards 5'

Front 90

a linear sequence of DNA that codes for a particular protein is called _______

Back 90

a gene

Front 91

why is DNA replication said to be assymetrical?

Back 91

Leading strand replicated as a continuous
polymer
 Lagging strand must be synthesized in short
sections
 Okazaki fragments sealed together by DNA
ligase to form unbroken DNA strand
87

Front 92

what is needed to replicate the telomeres (chromosome ends)

Back 92

telomerase

Front 93

How is DNA replication self-correcting

Back 93

DNA polymerase removes incorrect nucleotides
and replaces them with correct ones

Front 94

cells have ____ different types of amino acids

amino acids join in a specific sequence to form a particular ________

Back 94

20

protein

Front 95

Proteins are composed of one or more chains of ________

Back 95

amino acids

Front 96

what is needed to code for each of the 20 aminio acids

Back 96

three nucleotides (triplet)

Front 97

how many triplet combinations are there? what are they called?

Back 97

64
codons

Front 98

stop codons are coded for by _____ and signal __________

Back 98

three triplets
protein code

Front 99

gene regulation is accomplished through control of _________________

Back 99

the transcription process (polymerase binding)

Front 100

what are introns
describe them

Back 100

Unwanted stretches of bases that must be
removed from pre‐mRNA before it can be
translated into a protein • Removed by nucleus • Result in exons (mRNA sequence with wanted
segments) • Believed to be important in evolution of new
genetic information and gene regulation

Front 101

what do the large units of ribosomes do

Back 101

Catalyzes peptide bond formation between
incoming amino acids
Translation
 Find starting place on mRNA
 Set correct reading frame for codon triplets
 Move along mRNA
 Translate nucleotide sequence into amino acid
sequence

Front 102

what do the ribosomal smaller subunits do?

Back 102

Smaller subunit
 Binds mRNA and tRNA

Front 103

where does transcription take place

Back 103

in the cell cytoplasm (mRNA is transported to the cell cytoplasm through nuclear membrane pores)

Front 104

Newly synthesized protein chain released from
ribosome when reaches __________`

Back 104

stop codon

Front 105

describe tRNA

Back 105

Anticodon at one end
 Amino acid attachment at other end
 Anticodon formed by 3‐nucleotide sequence

Front 106

what happens to the newly synthesized protein chain that is released from the ribosome when it reaches a stop codon?

Back 106

New protein bound by chaperone proteins that
help it fold into shape``

Front 107

what are the transcriptional controls in the regulation of gene expression?

Back 107

Activators
 Positive controls “turn on” transcription
 Repressors
 Negative controls “turn off” transcription

Front 108

which is the most abundant and diverse tissue in the body

Back 108

connective tissue -
Commonly functions as a scaffold on which
other cells cluster to form organs
 Forms an elaborate extracellular matrix,
important for the maintenance of cell
differentiation
 Important in support/repair of nearly every
tissue and organ

Front 109

DNA/RNA replication is

Back 109

anti-parallel and complimentary

Front 110

embryonic development is associated with selective gene expression that
controls what four essential processes to enable a single
cell to develop into a complex organism?

Back 110

Cell proliferation
 Cell specialization
 Cell‐to‐cell interactions
 Cell movement and migration

Front 111

simple squamous epithelium cells are found where?

Back 111

Lining of blood vessels, pulmonary alveoli,
Bowman capsule

Front 112

simple cuboidal epithelium cells are found where?

Back 112

Thyroid, sweat, and salivary glands; kidney tubules

Front 113

simple columnar epithelium cells are found where?

Back 113

Lining of intestine, glandular ducts

Front 114

pseudostratified epithelium cells are found where?

Back 114

Male urethra, respiratory passages

Front 115

stratified squamous epithelium cells are found where?

Back 115

skin, mucous membranes

Front 116

stratified columnar epithelium cells are found where?

Back 116

epiglottis, anus, parts of pharynx

Front 117

stratified transitional epithelium cells are found where?

Back 117

bladder

Front 118

loose connective tissue is found where?

Back 118

Widespread locations, dermis of skin, adipose,
tissue organs

Front 119

dense/supportive connective tissue is found where?

Back 119

Cartilage, bone, tendons, joints, fascia surrounding
muscles

Front 120

hematopoietic connective tissue is found where?

Back 120

Bone marrow, lymph tissue, plasma`

Front 121

myoepithelial cells are found where?

Back 121

******Mammary, sweat, and salivary glands

Front 122

neuroglia issue is found where?

Back 122

Primarily central nervous system

Front 123

describe meisosis

Back 123

First division
– Two cells each with 46 chromosomes
– 2 or 3 crossover events occur
Second division
– Sister chromatids pulled apart
– Result is 4 haploid cells with 23 chromosomes

Front 124

what are the two types of DNA mutation

Back 124

point mutation
frameshift mutation

Front 125

describe a point mutation

Back 125

Single base pair (AA) substitution
• May cause affected codon (three base pairs) to
signify an abnormal amino acid

Front 126

describe a frameshift mutation

Back 126

Often dramatically changes genetic code
• Addition/removal of one or more bases changes
reading frame
• All remaining codon triplets have greatly altered
amino acid sequences

Front 127

single-gene (Mendalian) disorders are due to:

Back 127

Due to DNA mutation that codes for a particular
protein

Front 128

what is the #1 reason for chromosomal abnormalities

Back 128

Aneuploidy: abnormal number of chromosomes,
either > or < 46 in humans
 Nondisjunction: failure of pairs to separate properly
during 1st or 2nd meiotic division
 Resulting germ cells have 22 and 24 chromosomes,
respectively
 Combination of abnormal and normal germ cells produce
fertilized cell with 25 or 27 chromosomes

Front 129

what is anaphase lag

Back 129

1 chromosome left out of newly
formed cell nucleus

Front 130

what is monosomy

Back 130

Monosomy: daughter cell with a deficiency of
1 chromosome
 Not compatible with life

Front 131

what is polysomy

Back 131

daughter cell with too many
chromosomes
 May result in viable fetus
 Nearly always associated with severe disability
 Those involving extra/missing sex chromosome not
as debilitating

Front 132

what are the possible causes of chromosomal abnormalities?
what causes increase risk?

Back 132

Poorly understood
 Radiation, viruses, chemicals implicated
 Increased risk
 Advanced maternal age
 Abnormalities in parental genetic structure

Front 133

what is usually the cause of abnormal chromosome structure?

Back 133

Usually due to breakage and loss or rearrangement
of chromosome pieces during meiosis or mitosis
 Meiosis
 Crossing over errors: chromosome portions lost,
attached upside‐down, or attached to wrong
chromosome
 Mitosis
 Opportunities for chromosomal breakage and
impairment

Front 134

what is translocation

Back 134

Exchange of DNA pieces between nonhomologous
chromosomes –incorrect separation

Front 135

what is reciprocal translocation?

Back 135

no lost genetic material,
sometimes no symptoms; increased risk of
producing abnormal gametes

Front 136

what is a Robersonian translocation?

Back 136

exchange of 1 long chromatid arm for 1 short arm

Front 137

what are isochrosomes?

Back 137

2 identical short chromatid arms
and 2 long chromatid arms remain together
 due to incorrect separation at centromere

Front 138

what is an inversion?

Back 138

Removal and upside‐down reinsertion of a
chromosome
 No net loss/gain of genetic material
 Often no significance to individual, but may affect
offspring
 Inverted chromosome may not pair up properly during
meiosis, resulting in duplication or loss of genes

Front 139

what is deletion? and its cause

Back 139

Loss of chromosomal material
 Caused by break in arm of a single chromosome
 Results in DNA fragment with no centromere
 Piece lost in next cell division
 Associated with some forms of cancer
 Deletions at both ends may form a ring
chromosome

Front 140

what is duplication?

Back 140

Results in extra copies of a portion of DNA
 Less severe consequences

Front 141

what does "autosomal chromosomal disorder" mean?

Back 141

means not related to the sex chromosomes, but
one of the other 22 homologous pairs

Front 142

what is the most common chromosomal disorder? Describe it?

Back 142

Trisomy 21 (Down Syndrome)
Extra 21st chromosome
 Leading cause of mental retardation
 Protruding tongue, low‐set ears, epicanthal folds,
poor muscle tone, short stature; congenital heart
deformities, increased susceptibility to respiratory
infections, leukemia
 Majority of fetuses either stillborn or aborted

Front 143

why do fathers pass X or Sex Chromosome disorders on only to their daughters?

Back 143

because the disorders are linked to the X chromosome, not the Y - since boys receive only Y's from father, they don't inherit the X-linked disorder from dad

Front 144

why do males always inherit an X linked disorder from their mothers?

Back 144

because the mother can only pass on an x chromosome to their sons, and if there is no additional x chromosome to override the defective x chromosome (which there isn't in boys) the disorder will express

Front 145

nearly all x-linked disorders are recessive so females only express the disorder when:

Back 145

both x chromosomes have the mutation

Front 146

hemophilia A is an example of

Back 146

a sex linked disorder

Front 147

describe Klinefelter syndrome

Back 147

Common genetic disease
of the sex chromosomes
 Usually 1 extra X
chromosome; sometimes
more than 1
 Lack of secondary sex
characteristics during
puberty
Lack of testosterone
 Testicular atrophy; infertility
 Feminine hair distribution/gynecomastia
 Tall stature, long arms/legs
 High‐pitched voice
 Impaired intelligence

Front 148

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Back 148

.

Front 149

Describe Turner Syndrome

Back 149

Monosomy X: 1 normal X
chromosome; no Y chromosome
 Female phenotype with no ovaries
S dX h i i
Sex Chromosome Disorders
 Second X chromosome missing or
structurally abnormal; usually due to
father’s advanced age
 Rarely survive to birth
 Short stature, webbed neck, fibrous
ovaries, sterility, amenorrhea, wide
chest, congenital heart defects

Front 150

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Back 150

.

Front 151

what do multiple x females exhibit?

Back 151

Menstrual abnormalities; retardation tendency
with more than 4 X chromosomes

Front 152

double y males are generally

Back 152

taller than average

Front 153

Mendelian Single -gene disorders result from

Back 153

alterations or mutations of single genes
Affected genes may code for abnormal enzymes,
structural or regulatory proteins
 Transmission follows principles of Medelian
Genetics
 Random transmission, but chances of transmission
can be calculated using the Punnett Square

Front 154

autosomal dominant disorders have a _____% chance of passing on with one affected and one unaffected mate

Back 154

50%

Front 155

Unaffected individual to do not ever transmit autosomal dominant disorders. Why?

Back 155

b/c if you don't have the disorder, you are not a carrier

Front 156

describe Marfan Syndrome
It is what type?

Back 156

autosomal dominant disorder
Connective tissue disorder
 Typically tall, slender; long, thin
arms/legs; long, thin fingers
(arachnodactyly)
 Cardiovascular lesions most
threatening
 Aorta tends to be weak, susceptible to
dilation/rupture
 Traced to mutations in fibrillin 1 gene
on chromosome 15

Front 157

describe Huntington Disease
what type?

Back 157

autosomal dominant
Primarily affects neurologic function
 Symptoms appear after age 40
 Mental deterioration, involuntary arm/leg
movements
 Parent may transmit to offspring before becoming
aware of defective gene

Front 158

describe autosomal recessive disorders

Back 158

Mutation of autosomal recessive gene
 Males/females equally affected
 Usually not apparent in affected individuals; both
parents carriers of mutant recessive gene

Front 159

unaffected individual may transmit an autosomal recessive disorder to offspring. What are the chances

Back 159

Two carriers have 1:4 chance of having affected
offspring and 2:4 chance of having carrier offspring

Front 160

what are some common autosomal recessive disorders

Back 160

Albinism
 Phenylketonuria
 Inborn error of metabolism
 Cystic fibrosis
 Most common

Front 161

Describe nonmendelian Single-gene disorders

Back 161

Caused by long triplet repeat mutations, such as
fragile X syndrome
 Due to mitochondrial DNA mutations
 Associated with genomic imprinting
 Do NOT follow Mendelian Principles
 Random inheritance, etc

Front 162

describe multifactorial (polygenic) disorders

Back 162

“Run in families”
 Thought to be produced by an interaction of many
genes
 2 or more mutant genes act together
 Also present range of severity
 Difficult to predict based on family history
 Very common (high blood pressure, cancer,
diabetes)
 Height, weight, intelligence
8

Front 163

what is the period of most vulnerability of feus to teratogen exposure

Back 163

3rd to 9th week: embryo very susceptible to
teratogenesis (especially 4th and 5th weeks during
organ development

Front 164

after the 3rd month, teratogens affect what?

Back 164

growth or injury
to already‐formed organs

Front 165

cancer cells proliferate despite lack of what?

Back 165

growth‐initiating signals from the
environment (paracrine, endocrine, autocrine)

Front 166

cancer cells escape _______________signals

Back 166

apoptic

Front 167

cancer cells are considered "immortal" b/c they are capable of

Back 167

unlimited replication

Front 168

why are cancer cells considered genetically unstable

Back 168

b/c they evolve by accumulating new mutations at a much faster rate than normal cells.

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how do cancer cells operate?

Back 169

invade and overtake their local tissue
•migrate from their site of origin to colonize distant sites where they
do not belong

Front 170

malignant tumors do not closely resemble the tissue type of origin, the greater the degree of anaplasia indicates what?

Back 170

the more aggressive the malignancy

Front 171

how is a benign tumor different from a malignant tumor?

Back 171

Does not have potential to kill host, but may be life threatening because of its location
 Does not invade adjacent tissue or spread to distant sites
 Many are encapsulated
 More closely resembles original tissue type
 Grows more slowly, little vascularity, rarely necrotic, often retains original function

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“‐oma” suffix indicates

Back 172

benign tumor

Front 173

“‐carcinoma,” indicates

Back 173

malignant tumor of epithelial origin
(adenocarcinoma)

Front 174

"sarcoma" indicates

Back 174

malignant tumor of mesenchymal origin
 Mesenchymal~ nerve, bone, muscle

Front 175

Statistics:
Cancer is ____ leading cause of death in the U.S.
 Most cancer deaths occur in individuals over age ______
 Men have ____ risk of developing cancer; women have _____
risk
 5‐year survival rate: ____
 what proportion of cancer‐related deaths may be attributable to
lifestyle factors

Back 175

2nd
55
1:2
1:3
66%
One third

Front 176

what are some examples of lifestyle factors

Back 176

 Tobacco use, Nutrition, Obesity, Sun exposure (skin cancer),
Sexual exposure to HPV (cervical cancer)

Front 177

which type of cancer is the leading cause of death in men and women and has the worst survival rate?

Back 177

lung cancer

Front 178

what are the two types of carcinogens in tobacco

Back 178

Initiator (causes genetic damage)
 Promoter (promotes tumor growth)

Front 179

malignant tumors do not closely resemble the tissue type of origin, the greater the degree of anaplasia indicates what?

Back 179

the more aggressive the malignancy

Front 180

how is a benign tumor different from a malignant tumor?

Back 180

Does not have potential to kill host, but may be life threatening because of its location
 Does not invade adjacent tissue or spread to distant sites
 Many are encapsulated
 More closely resembles original tissue type
 Grows more slowly, little vascularity, rarely necrotic, often retains original function

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what is a proto-oncogene?

Back 181

a normal cellular gene that is growth promoting and usually inhibited in nonproliferating cells. When erroneously activated, it becomes an onco gene and promotes cancer

Front 182

what is an onco-gene?

Back 182

a gene associated with the initiation of cancerous behavior in cells

Front 183

what is contained in the proto-oncogene?

Back 183

the code for cell growth-activating pathways

Front 184

what are the two major categories of critical cancer genes involved in the regulation of cellular growth and whose dysfunction is a factor in most forms of cancer

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proto-ocogenes
tumor suppressor genes
(generally, both overactivity of proto-genes leading to oncogenes and failure of tumor-suppressor genes is necessary to achieve mallignant transformation)

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what do tumor suppressor genes do?

Back 185

inhibit cell proliferation = cancers may arise when tumor suppressor genes function is lost

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What is 'HEMOPHILIA' defined as?

What 2 types are there?

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Type A- LACK OF FACTOR VIII (8) (ANTIHEMOPHILIC GLOBULIN)

Type B- LACK OF FACTOR IX (9) (CHRISTMAS FACTOR)

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How do proto-oncogenes code for growth factors

Back 187

excessive autocrine or selfstimulated
growth. Small cell−manufactured peptides
secrete into extracellular space, diffuse to nearby cells, interact with receptors on target cell surface

Front 188

How do proto-oncogenes code for growth factor receptors

Back 188

cause expression of receptors that shouldn't be there at all, increase the number of growth factor receptors, or increase the growth receptors' affinity

Front 189

How do proto-oncogenes code for cytoplasmic signaling pathways

Back 189

excessive abnormal
intracellular growth‐signaling/Mutant proto‐oncogene
canactivate without external stimulation
 Involve numerous enzymes and chemicals that normally function to transmit signals from activated receptors at
cell surface to cell nucleus

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How do proto-oncogenes code for nuclear transcription factors:

Back 190

mutations cause overproduction of transcription factors (which initiate S phase in DNA replication) or interfere with the normal mechanisms for keeping them in check.

Front 191

proto-oncogenes become activated oncogenes when

Back 191

mutations alter their activity so that proliferation-promoting signals are generated inappropriately

Front 192

what are the four ways that proto-oncogenes are activated

Back 192

1. oncogenes may be introduced into the host cell by a retrovirus
2. a proto-oncogene w/i the cell may suffer a mutagenic event that changes its structure and fxn
3. a DNA swquence that normally regulates proto-oncogene expression may be damages or lost and allow the proto-oncogene to become abnormally active.
4.an error in chromosome replication may cause extra copies of the proto-oncogene to be included in the genome (amplification)

Front 193

what are the three cancers thought to be associated with retroviruses

Back 193

HIV
 Kaposi’s sarcoma
 Epstein‐Barr virus
 Burkitt lymphoma
 Human T‐lymphocyte virus type 1
 Adult T‐cell leukemia/lymphoma

Front 194

How do tumor suppressor genes contribute to cancer?

Back 194

Contribute to cancer only when not present
 Induce apoptosis, inhibit cell proliferation
 When not functioning or not present, inappropriate cell proliferation prevails

Front 195

describe the genetic component of tumor suppressor gene's role in cancer

Back 195

Both copies of tumor suppressor genes are inactivated
when cancer develops
 Both copies, meaning one copy of the gene from each
parent
 One can inherit a defective copy of tumor suppressor
gene from 1 or both parents

Front 196

Typically its at the level of _____________ that mutations begin with oncogenes

Back 196

transcription

Front 197

what is the Rb Gene?

Back 197

a tumor suppressor gene
Named for its role in retinoblastoma
 Codes for large protein in cell nucleus (pRb) that is the
“master break” for the cell cycle
 Blocks cell division
 Binding transcription factors
 Inhibits T factors from transcribing genes that initiate cell cycle

Front 198

an inactivating mutation of the RB gene removes ______________ on cell division

Back 198

1 major restraint

Front 199

what is the most common tumor suppressor gene defect identified in cancer cells?

Back 199

lack of a functional P52 tene

Front 200

More than ____ of all types of human tumors lack functional
p53

Back 200

1/2

Front 201

what does the P53 gene do when functioning normally?

Back 201

Gene inhibits cell cycling/mediates apoptosis
 Accumulates only after cellular (DNA) damage
 Binds to damaged DNA and stalls division
 Stalled division allows DNA to repair (Allows genetically damaged/unstable cells to survive and continue to replicate
 If DNA does not repair then it triggers apoptosis
 Very little p53 in normal cells

Front 202

The P53 gene may direct cell to initiated __________

Back 202

apoptosis

Front 203

describe P53's role in chemotherapy/radiation

Back 203

Chemotherapy/radiation
 Do not directly kill cells
 Instead, they create enough damage to the target cell to
trigger p53‐mediated cell death
 Cancer cells that lack functional p53 may be resistant to
chemotherapy/radiation

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what are the three steps of carninogenesis?

Back 204

Initiation
 Promotion
 Progression

Front 205

define metastasis

Back 205

Process by which cancer cells escape their tissue of origin
and initiate new colonies of cancer in distant sites
 Specialized enzymes and receptors enable them to escape their tissue of origin and metastasize

Front 206

describe the 4 steps of metastasis

Back 206

1. Tumor cells cut cell-to-cell attachments; allows
Movement toward basement membrane
2. Enzymes are released to break down membrane
3. Tumor cell begins to migrate via use of laminin/
Fibronectin receptors
4. Cell pulls through; autocrine signaling enhances
mobility

Front 207

cancer cells generally spread via what?

Back 207

circulatory and lymphatic systems

Front 208

what are ways to identify parent tissu of cancer origin?

Back 208

Tumor markers help identify parent tissue of cancer origin
 Rely on some retention of parent tumor characteristics
 Some released into circulation
 Others identified through biopsy
 Enzymes typically used as tumor markers
 Help track tumor activity

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describe angiogenesis

Back 209

 Process by which cancer tumor forms new blood vessels
in order to grow
 Usually does not develop until late stages of development
 Triggers are not generally understood
 Inhibition of angiogenesis is important therapeutic goal

Front 210

what are the warning signs of cancer in adults

Back 210

Change in bowel or bladder habits
 A sore that does not heal
 Unusual bleeding or discharge
 Thickening or lump in breast or elsewhere
 Indigestion or difficulty swallowing
 Obvious change in wart or mole
 Nagging cough or hoarseness

Front 211

.

Back 211

.

Front 212

what are the warning signs of cancer in children

Back 212

Continued, unexplained weight loss
 Headaches with vomiting in the morning
 Increased swelling or persistent pain in bones or joints
 Lump or mass in abdomen, neck, or elsewhere
 Development of whitish appearance in pupil of the eye
 Recurrent fevers not caused by infections
 Excessive bleeding or bruising
 Noticeable paleness or prolonged tiredness

Front 213

.

Back 213

.

Front 214

describe cachexia

Back 214

Overall weight loss and generalized weakness
 Loss of appetite (anorexia): secondary to toxins released by
malignant cells
 Increased metabolic rate: TNF‐alpha, high levels of cytokines
 Nausea/vomiting

Front 215

how do cancers affect the immune system?

Back 215

cause deficits
Immune system suppressed by cancer cell secretions
 Some cancers can elude immune system detection

Front 216

what happens when cancer suppresses the immune system through bone marrow suppression?

Back 216

anemia, leukopenia, and
thrombocytopenia
 Due to invasion and destruction of bone marrow cells, poor nutrition, and chemotherapy

Front 217

what is anemia

Back 217

deficiency in circulating red blood cells

Front 218

what is leukopenia?
what is it primarily caused by?

Back 218

Deficiency in circulating white blood cells
 Primary cause
 Malignant invasion of bone marrow
 Contributing factors
 Malnutrition
 Chemotherapy

Front 219

what is thrombocytopenia?
why is it life-threatening?

Back 219

Deficiency in circulating platelets
 Important mediators in blood clotting
 Predispose to life‐threatening hemorrhage

Front 220

by what can anemia, leukopenia, and thrombocytopenia all be managed?

Back 220

blood replacement therapy

Front 221

what are some examples of paraneoplastic syndromes

Back 221

Hypercalcemia: over‐secretion of PTH‐related protein by cancer cells
 Cushing syndrome secondary to ACTH secretion
 Hyponatremia and water overload secondary to excess ADH secretion

Front 222

what is the primary source of cancer pain and anorexia and can cause a portal for infection?

Back 222

Mucositis caused by chemotherapy and radiation therapy