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PA-S: PATHOPHYSIOLOGY > Chapter 5 > Flashcards

Chapter 5 Flashcards

1
Q

is the incidence rate of disease among individuals _____ to a risk factor divided by the incidence rate of the disease among individuals _____ to the risk factor
many factors can influence the risk such as:
_____. _____, ____, _____, and _____ of the disease
-complex interactions occur among genetic and non genetic factors can be quantified in terms of relative risks

A 
relative risk
exposed
not exposed
age
gender
diet
exercise
family history
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2
Q

traits caused by the combined effects of multiple genes

focus is on the ____ - usually many

A

polygenic traits

genes

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3
Q

genetic and environmental or lifestyle factors the variations in traits
_____ effects of many genetic and environmental factors cause these type of traits

A

multifactorial traits

additive

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4
Q

are measured on a continuous numeric scale

follow a normal ___ curve for distribution

A

quantitative traits

bell curve

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5
Q

is hard to determine in multifactorial diseases
number of ___ contributing to this disease is usually not known, precise ____ constitution of the parents is also not known, and the ___ of environmental effects can ___ substantially
_______: is based on direct observation of ____; is specific for each multifactorial disease
these types of risks of multifactorial diseases can substantially change because the ___ frequences, ______, and _____ factors can differ among populations

A 
recurrence risks
genes
allelic
extent
vary
empirical risks
data
gene
environment
lifestyle
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6
Q

recurrence risks have become ____ if more than one family member is affected
if the expression of the disease in the ____ is more severe, then the recurrence risk is _____
if the proband is of the less commonly affected ___, then the recurrence risk is ______
recurrence risk for the disease usually ____ rapidly in remotely related relatives

A 
higher
proband
higher
sex
higher
decreases
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7
Q

recurrence risks in multifactorial diseases is:

  1. rapidly increased when more distant relatives are affected
  2. higher if more than one family member is affected
  3. lower if the disease is more severe in the proband
  4. higher if the proband is more commonly affected sex
A
  1. higher if more than one family member is affected
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8
Q

____ studies
-children born to parents who havea disease but are then subsequently adopted by parents ____ the disease are studied for disease recurrences
-a preliminary indication of the extent to which ____ factors may cause a multifactorial disease is provided
______ interaction
- a genetic predisposition may interact with an environmental factor to increase the risk for a disease to a much higher level than either factor would alone

A

adoption
lacking
genetic
gene-environment

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9
Q

genetics of common diseases
_____ malformations
- congenital diseases are present at ____
-most are ________
-_______ can cause congenital malformations
-having other disorders along with congenital disease is ______

A 
congenital
birth
multifactorial
environmental factors
common
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10
Q 
multifactorial diseases
in adults include but are not limited to:
\_\_\_\_\_\_\_
\_\_\_\_\_\_\_
\_\_\_\_\_\_\_
\_\_\_\_\_\_\_
\_\_\_\_\_\_
\_\_\_\_\_\_
\_\_\_\_\_
\_\_\_\_\_
\_\_\_\_\_\_\_
A 
coronary heart disease
hypertension
breast cancer
colon cancer
diabetes mellitus
obesity
alzheimers 
alcoholism
schizophrenia and bipolar disorder
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11
Q

coronary heart disease
- potential ________ caused by _______ in the arteries supplying blood to the heart
-potential ________ (stroke) caused by _______ in the arteries supplying blood to the _____
risk increases if:
-more affected _____ exist
-affected relatives are ____ rather than ____
-age of onset is younger than ____ years
autosomal ____________, high ___ diet, lack of ______, _____ and _____ increases risk

A 
myocardial infarction (heart attack)
atherosclerosis
cerebrovascular accident
atherosclerosis
brain
relatives
female, male
55
dominant familial hyper cholesterolemia
fat
smoking
obesity
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12
Q

hypertension
- is a risk factor for ____ disease, ____, and ____ disease
-between ___% and __% of blood pressure variations are _____, which means that ______ factors are important
important environmental factors include: _____ intake, lack of ______, ____ and _____
_______ regulation is complex
research that focuses on individual components for gene involvement include the ________ system, ______ and _____ system

A 
heart, stroke, kidney
20, 40
genetic
environmental
sodium
exercise
stress
obesity
blood pressure
angio-tensin
nitric oxide
kallikrein-kinin
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13
Q

cancer
the _____ leading cause of death in the US
_____ and _______ affect the risk for cancer
_____ use accounts for ___ of all cancers

A

second
environmental, lifestyle
tobacco
1/3

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14
Q

breast cancer
affects __% of american women who live to ___ years of age
if a woman has a ___ degree relative with breast cancer, then her risk _____
-recurrence risk increases if the age of onset in the affected relative is ___ and if the cancer is _____
-an autosomal ____ form (__%) has been linked to chromosomes ___(BRCA2) and __(BRCA1)
- this form causes a __% to __% risk of developing breast cancer and increases the risk for _____ Cancer
-other genes are _____

A 
12
85
first
doubles
early
bilateral
dominant
5
13
17
50
80
ovarian
implicated
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15
Q

which statement made by the nurse indicates she has an accurate understanding of breast cancer?

  1. BRCA1 is on chromosome 13
  2. if a woman has one affected first-degree relative then her risk of developing breast cancer triples
  3. alterations in the kallikrein-kinin system increases the risk for breast cancer
  4. women who inherit a mutation in BRCA2 experience a 50% to 80% lifetime risk of developing breast cancer
A

4

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16
Q

colorectal cancer
-is ____ only to lung cancer in the number of cases occurring annually in the US
-the risk is __ to ___ times higher than the general population in those with one affected first-degree relative
____ in families
-inherited __________ (APC) gene mutations play a vital role in ______ AP
______ mutations are involved in common colon cancers
mutations in any of ___ genes cause hereditary _________ cancer
environmental factors include a high ____, low ____ diet

A 
second
two, three
clusters
inherited adenomatous polyposis coli
familial adenomatous polyposis
somatic
six
nonpolyposis colorectal
fat, fiber
17
Q

type 1 diabetes is characterized by destruction of ______ cells and reduction/absence of ________

A

pancreatic beta

insulin

18
Q

type 2 diabetes produces insulin _____; cells have difficulty using the insulin that is produced

A

resistance

19
Q 
is a complex and not fully understood
is the leading cause of \_\_\_\_\_\_, \_\_\_\_\_ disease, and \_\_\_\_\_ failure
two major types
type 1:  \_\_\_\_\_\_\_\_\_ 
type 2: \_\_\_\_\_\_\_\_\_
A 
diabetes melltus
blindness
heart
kidney
insulin-dependent diabetes mellitus
non-insulin dependent diabetes mellitus
20
Q

type 1 diabetes
is caused by the _____ destruction of insulin producing ____ Cells in the ______
-_____ activation and ________ production
-individuals with type 1 need _____ for life
-_________ of individuals with type 1 diabetes face a substantial elevation in risk
-incidence is higher in the offspring of diabetic _______
association of specific ________ (HLA) class ___ alleles is ___%
-_______: genetic variation here is associated with a __% increased risk
other genes are also implicated

A 
autoimmune 
beta
pancreas
t-cell
autoantibody
insulin
siblings
fathers
human leukocyte antigen
40
insulin gene
10
21
Q

type 2 diabetes
more than __% of all individuals with diabetes have type 2
neither ___ or ____ are present
insulin _______ is present or insulin _____ is diminished
-risk factors include ____ and a positive ______
-____ has a preventative effect

recurrence risk
- ___ twins have a __ risk
- first-degree relatives have a __% to __% risk
genes
-variant of _______ is associated with a __% increased risk
-other genes: _____ and ____ are associated with increased risk
_____ is associated with maturity onset diabetes of the young

A 
90
HLA, autoantibodies
resistance, production
obesity
family history
exercise 
MZ, 90%
15, 40
TC7FL2
50
PPAR-y, KCNJ11
glucokinase gene
22
Q

type 2 diabetes:

  1. is highly correlated with reduced body mass index (BMI)
  2. is caused by an absence of insulin
  3. is often treated with lifestyle modification, including diet and exercise
  4. usually involves a gene identified as HLA
A

3

23
Q

regarding type 2 diabetes, obesity is considered to be what type of risk?

  1. modifiable
  2. genetic
  3. empirical
  4. relative
A

modifiable

24
Q

type II diabetes
often treated with ____ modification including ___ and ____
-this type of diabetes is highly associated with increased __ and ____, thus weight loss is one goal of therapy
-dietary modifications can aid ____ loss and reduce total ____ load
type 2 diabetes is highly associated with ____ and an increase in ____

A 
lifestyle
diet, exercise
BMI, obesity
weight
glucose
obesity, BMI
25
Q

is a greater BMI than 30
BMI = weight in ____ (_) divided by height in ____ squared (__) BMI =
presents a substantial risk factor for ____ disease, ____, ______, and ______
gene for ____ and its receptors are related to this

A 
kilograms, W
meters, H^2
W/H^2
heart, stroke, hypertension, type 2 diabetes
leptin
26
Q

alzheimer disease (AD)
results in progressive _____ and a loss of _____
produces ______ plaques and _____ tangles
- risk ___ if a first degree relative has AD
-mutations for early onset affect _______ deposition
_______ (PS1), _____ (PS2), and ________ (APP) gene, which is the priimary cause of AD
-mutation for late-onset AD
allelic variation (___, ___, and __) in alolipoprotein __ (APOE)
one copy of __ allele: at least ___ to ___ times at greater risk
two copies of __ allele: at least __ to ___ times more likely to develop AD

A 
dementia, memory
amyloid, neurofibrullary
doubles
amyloid beta 
presenilin, presenilin amyloid beta precursor protein 
e2, e3, and e4
E
e4
two, five
e4
five 
10
27
Q

schizophrenia

twin and adoption studies
-MZ and DZ pairs have a risk of __% and __% respectively
if the offspring of a schizophrenic parentare adopted by normal ppl, then the risk is approx the ___ as the risk when raised by a schizo biologic parent
-brain expressed genes whose products interact with _______ receptors have been implicated

A

47
12
same
glutamate

28
Q

bipolar affective disorder
-is also called _________ disorder
risk rises between __% and __% if an individual has an affected first degree relative, as compared w the normal risk of ___%
-concordance rates are __% and __% for MZ and DZ twins respectively
-genes that affect _____, ___ and _____ systems have been implicated
schizophrenia and bipolar disorder
-both are _______ - reflects the influence of numerous genetic and environmental factors, making the _____ hard to identify and the ______ analysis complicated

A 
manic depressive
5, 10
0.5
79, 24
serotonin, dopamine, nonadrenaline
heterogeneous
phenotype
genetic
29
Q

multifactorial disorders in the adult populations
other complex diseases
-many other multifactorial diseases are being studied
-some susceptibly genes have been identified
General principles of complex diseases
-the more strongly inherited forms of complex disorders generally have an ____ age of onset
often represent _____ inheritance
-when laterality is a component, the ______ forms are more likely to cluster strongly in families
-the sex specific threshold model fits some of the disorders (_______,_____,______ and ______) but it can also fail to fit other disorders (_______)

A 
earlier
single gene
bilateral 
pyloric stenosis, CL/P, autism, heart disease
type 1 diabetes
30
Q

general principles of complex diseases continued

  • the assumption that a genetic component means the course of a disease cannot be altered is ______; most diseases have both ____ and ______ aspects
  • _______ modifications (diet, exercise, stress reduction) can often reduce the risk for diseases
  • identifying a specific ____ lesion can lead to more effective prevention and treatment
A

incorrect
genetic, environmental
lifestyle
genetic

31
Q

alcoholism
risk is __ to __ times higher in the individual with an alcoholic parent
Adoption studies
-offspring of an alcoholic parent, even when raised by nonalcoholic parents, have a ____ increased risk
-offspring of nonalcoholic parents when reared by alcoholic parents, ____ have a increased risk
twin studies: MZ and DZ pairs have a >__% and

A

three, five
fourfold
do not

32
Q

alcoholism continued
twin studies: MZ and DZ pairs have a >__% and <

genes

  • individuals with ______ are much ____ likely to become alcoholics
  • allelic variation for _______(GABA) receptors increase the risk
A 
60
30
ALDH2*2
less
gamma-aminobuytric acid
increase
33
Q

schizophrenia

recurrence risk among offspring of one affected parent is __ times higher than the general population

A

10

34
Q

schizophrenia

if an individual ahas an affected sibling and affected parent, then the risk is approx __%

A

17

35
Q

schizophrenia

if an individual has two affected parents, then the risk is __%

A

46

PA-S: PATHOPHYSIOLOGY (18 decks)

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