w4 Flashcards

1
Q

Phenotype vs Genotype

_______– the molecular structure of an organism, one individual’s DNA
- Differences between individual’s DNA (single nucleotide, number of copies of a coding sequence, number of chromosomes) is from ancestral inheritance or mutation
- Expressed via the production of proteins

_______ – the observable characteristics of an organism, the presentation of DNA
- Based on genotype but can be altered by the environment through: epigenetic modifications, lack of protein binding sites/carriers, lack of amino acids to code certain proteins, misfolding proteins

A

Genotype – the molecular structure of an organism, one individual’s DNA
- Differences between individual’s DNA (single nucleotide, number of copies of a coding sequence, number of chromosomes) is from ancestral inheritance or mutation
- Expressed via the production of proteins

Phenotype – the observable characteristics of an organism, the presentation of DNA
- Based on genotype but can be altered by the environment through: epigenetic modifications, lack of protein binding sites/carriers, lack of amino acids to code certain proteins, misfolding proteins

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2
Q

models used in epidemiology: epidemiological triangle

  • bidirectional arrows indicating the impact can move both ways
  • disease occurs when an _____ is present, in a susceptible _____, under _______ conditions favorable to the development of disease, and a vector
  • changes in one component of the triangle can influence whether the disease occurs or not
  • does this model work well with communicable and infectious diseases?
  • does this model work well with chronic disease and mental illness?
A
  • bidirectional arrows indicating the impact can move both ways
  • disease occurs when an agent is present, in a susceptible host, under environmental conditions favorable to the development of disease
  • changes in one component of the triangle can influence whether the disease occurs or not
  • YES - this model works well with communicable or infectious diseases
  • NO - this model doesn’t work well with chronic disease and mental illness b/c the focus is too narrow
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3
Q

common data sources in epidemiology:
-data collected for other reasons
-routinely collected
-epidemiologic data

___________ - data collected on a regular base (ex: US census)
___________ – data collected specifically for epidemiologic purposes (ex: scientific studies)

___________ - (ex: info gathered from providers, hospitals, health dept, insurance records, etc.)

A

common data sources in epidemiology
- routinely collected - data collected on a regular base (ex: US census)
- epidemiologic data – data collected specifically for epidemiologic purposes (ex: scientific studies)
- data collected for other reasons (ex: info gathered from providers, hospitals, health dept, insurance records, etc.)

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4
Q

sensitivity vs specificity

__________ – ability of test to correctly identify those with the disease (true positive rate)

__________ – ability of a test to correctly identify those without the disease (true negative rate)

A

sensitivity – ability of test to correctly identify those with the disease (true positive rate)

specificity – ability of a test to correctly identify those without the disease (true negative rate)

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5
Q

risks/odds vs rate

________ – mathematical expression, represents the frequency which an event occurs in a defined population during a specific time period
- measures the occurrence of event
- determines how likely an event will occur

_________ – the chance of something happening

A

risks/odds vs rate

rate – mathematical expression, represents the frequency which an event occurs in a defined population during a specific time period

risks and odds – the chance of something happening

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6
Q

false negative vs false positive

_________– negative test even though they have the disease

_________ – positive test even though they don’t have the disease

A

false negative – negative test even though they have the disease

false positive – positive test even though they don’t have the disease

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7
Q

Exposomics
Omics
Epigenomics

_________ – study how specific components of the genome function/interact or how external influences alter the function of the genome

__________– study of molecular signals that tell the genome how to behave and their relationship to health

_________– study of how all the exposures of an organism alter its health
- Can be chemical, biological, psychosocial, or other enviro stimuli that alter the expression of genes

A

Omics – study how specific components of the genome function/interact or how external influences alter the function of the genome

Epigenomics – study of molecular signals that tell the genome how to behave and their relationship to health

Exposomics – study of how all the exposures of an organism alter its health
- Can be chemical, biological, psychosocial, or other enviro stimuli that alter the expression of genes

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8
Q

____________
- Protection related to genetic testing or research participation
- Protection against the use of genetic information to discriminate in health insurance and employment

A

GINA
Genetic information nondiscrimination act

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9
Q

Health equity (in the context of genomics)

  • Requires an understanding of how health is influenced by biological and non-biological determinants of health in all populations
  • Creates equal and effective access to genomic advances in health care for all
  • Must close gaps among underserved populations
  • Must ensure genomic medicine application are unbiased and equal
  • Must ensure adoption of these strategies are possible
A

Health equity (in the context of genomics)
- Requires an understanding of how health is influenced by biological and non-biological determinants of health in all populations
- Creates equal and effective access to genomic advances in health care for all
- Must close gaps among underserved populations
- Must ensure genomic medicine application are unbiased and equal
- Must ensure adoption of these strategies are possible

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10
Q

Intergenerational transmission
- Female infants are born with all their eggs they will ever carry, so the _____ are exposed to intrauterine conditions as well
- Epigenetic markers inherited from mostly ______
- Placental function controls fetal exposure and can cause fetal tissue to adapt to the perceived extra-uterine environment

A

Intergenerational transmission
- Female infants are born with all their eggs they will ever carry, so the eggs are exposed to intrauterine conditions as well
- Epigenetic markers inherited from mostly mom
- Placental function controls fetal exposure and can cause fetal tissue to adapt to the perceived extra-uterine environment

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11
Q

ACE intervention
- prevention
- replace maladaptive behaviors with adaptive ones – exercise, self care
- enhancing social support networks
- addressing the sources of trauma directly through therapy

ACE and PH nursing
- understanding
- address ACE through healthcare
- increase system capacity for trauma informed care and prevention
- policies to foster cross sector care coordination

A

0

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12
Q

DNA methylation
- Methyl molecules serve as roadblocks to __________
- No protein = gene not __________ in body
- ____otype will vary between methylated and unmethylated gene even though the ____otype remains the same

Phenotype – the observable characteristics of DNA
Genotype – the molecular structure of an organism, one individual’s DNA

A

DNA methylation
- Methyl molecules serve as roadblocks to transcription
- No protein = gene not expressed in body
- Phenotype will vary between methylated and unmethylated gene even though the genotype remains the same

Phenotype – the observable characteristics

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13
Q

Exposome = all about ________

  1. _______ external environment – urban enviro, climate factors, social capital, systemic racism
  2. ________ external environment – specific contaminants, diet, physical activity, tobacco, infections
  3. _________ environment – metabolic factors, gut microflora, inflammation, oxidative stress
A

Exposome = all about exposure

  1. General external environment – urban enviro, climate factors, social capital, systemic racism
  2. Specific external environment – specific contaminants, diet, physical activity, tobacco, infections
  3. Internal environment – metabolic factors, gut microflora, inflammation, oxidative stress
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14
Q

GINA: Types of info protected or not protected?
- Protects against info about current health status or disease (genetic or non-genetic) if the disease is already manifested and diagnosed
- Applies to life, disability or long term care insurers
- Applies to TRICARE
- Protects these groups – active military or veterans, Indian health service, federal employees, organizations with less than 15 employees
- Applies to sectors outside of employment and health insurance – education, housing

A

not protected

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15
Q

models used in epidemiology: ________
- used to investigate relationships between factors r/t the who, what, where, when and why
- used to study chronic disease (CAD, obesity) b/c they have multiple interacting concepts (stress, environment, education, nutrition, etc.)

A

web of causation

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16
Q

objectives of _________:
1. who is being affected by the disorder = population
2. what determines who is affected or susceptible = determinants of health
3. where does the condition occur = distribution
4. when does the disease occur = frequency
5. why does the condition occur = disease causation
6. how can we control/prevent health problems = application

A

objectives of epidemiology:
who is being affected by the disorder = population
what determines who is affected or susceptible = determinants of health
where does the condition occur = distribution
when does the disease occur = frequency
why does the condition occur = disease causation
how can we control/prevent health problems = application

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17
Q

How can public health address genetic susceptibility:
- Identify relationship between genetic and environmental factors
- Inform people of risks and prevention
- Minimize negative exposures – smoke free laws
- Support healthy behaviors – enhance walkability to encourage physical activity in those susceptible to CVD and obesity
- Medicine targeting specific genetic risk factors

A

0

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18
Q

Gene
Genome
Genetics

________– the study of heredity and transmission of characteristics from across generations

_______ – the most basic physical and functional units of heredity
- Specific sequences of nucleotide bases that encode instructions for how to make proteins

________ – total genetic makeup of an organism
- Genes are in a genome

A

Genetics – the study of heredity and transmission of characteristics from across generations

Gene – the most basic physical and functional units of heredity
- Specific sequences of nucleotide bases that encode instructions for how to make proteins

Genome – total genetic makeup of an organism
- Genes are in a genome

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19
Q

specific external environment, general external environment, or internal?

_________
tobacco
consumer products
physical activity
diet
water

_______
transcriptomics
proteomics
metabotomics

________
climate
urban environment
traffic
social capital
green spaces

A

specific external environment

internal

general external environment;/

20
Q

evidence-based practice
research

_________– scientific method where data is systemically collected to describe, explain, and/or predict events

__________ – the conscientious and judicious use of current best evidence to guide health care decisions

A

research – scientific method where data is systemically collected to describe, explain, and/or predict events

evidence-based practice – the conscientious and judicious use of current best evidence to guide health care decisions

21
Q

Resiliency and the 4 core components

protective factors (nurturing adult, positive adulthood relationships, counseling, mindfulness) can build resilience and reduce risks

Improve health of childbearing people
- Nutrition
- Stress
- Exercise
- Overall health

22
Q

commonly used rates:

specific mortality rate
- cause specific mortality rate
- sub-population specific mortality rate

morbidity or rates of disease
- incidence – ___ cases
- prevalence – ____ cases

A
  • incidence – new cases
  • prevalence – current cases
23
Q

Ex of life course theory: the barker hypothesis

Adverse fetal life context leads to increased risk of adult disease
- Originally focused on baby’s weight = increased risk for adult onset disease
- Early programming impacts gene expression through _________ changes b/c body prioritizes immediate survival over long term heatlh
- Shifts in metabolic process may be an attempt to adapt the fetal body to a nutrient poor fetal environment but is then a mismatch to food-rich environments after birth

A

epigenetic

24
Q

GINA: allows or prohibits

Employers to:
- Request, require, or purchase genetic info about employees or family
- Use a person’s genetic info in decisions about their job

Health insurers to:
- Request or require that a person undergo genetic testing
- Use a person’s genetic info to set eligibility requirements or establish premiums

25
Health equity and genomics historical misuse: _________ – scientifically inaccurate theory that humans can be improved through selective breeding of populations - Beliefs that are prejudiced and are incorrect understanding of mendelian genetics that claim abstract human qualities (intelligence and social behaviors) and complex diseases/disorders are inherited - caused widespread harm to marginalized populations
Health equity and genomics historical misuse: Eugenics – scientifically inaccurate theory that humans can be improved through selective breeding of populations - Beliefs that prejudiced and incorrect understanding of mendelian genetics that claim abstract human qualities (intelligence and social behaviors) and complex diseases/disorders are inherited - Eugenic practices caused widespread harm to marginalized populations
26
GINA Genetic information nondiscrimination act - Protection related to genetic testing or research participation - Protection against the use of genetic information to discriminate in _______ and __________
GINA Genetic information nondiscrimination act - Protection related to genetic testing or research participation - Protection against the use of genetic information to discriminate in health insurance and employment
27
methods commonly used in epidemiology: ________ – identify factors and characteristics that cause, predict, or are associated with the development of a health condition scientific methods used to focus: descriptive, analytic, surveillance _________ – ongoing, systemic collection, analysis, and interpretation of health-related data essential ________ epidemiology – describes who, what, where, when ________ epidemiology – examine relationships between who, what, where, and when to determine why
focus – identify factors and charactersitics that cause, predict, or are associated with the development of a health condition - scientific methods used to focus: o surveillance – ongoing, systemic collection, analysis, and interpretation of health-related data essential o descriptive epidemiology – describes who, what, where, when o analytic epidemiology – examine relationships between who, what, where, and when to determine why
28
____________ - Age adjusted measure of premature mortality - Indicates how many people died earlier than expected
YPLL (years of potential life lost) - Ex: In countries with high rates of AIDS = YPLL will be very high
29
Toxic stress: poverty and ACE - Eco-bio-developmental model - Explains development in childhood 3 domains of stress response: Tolerable stress, Positive stress, Toxic stress 1. _______ – contributes to growth 2. _________ – short term, no long term harm 3. ________ – severe or chronic stress that leads to toxic effects on the brain, altered behavior and maladaptive responses (may results from poverty or ACE)
Toxic stress: poverty and ACE - Eco-bio-developmental model - Explains development in childhood 3 domains of stress response: Positive stress – contributes to growth Tolerable stress – short term, no long term harm Toxic stress – severe or chronic stress that leads to toxic effects on the brain, altered behavior and maladaptive responses (may results from poverty or ACE)
30
validity vs reliability __________– extent a measuring procedure yields consistent results on repeated administrations of the scale (exact same results every time) _________ – degree of measuring procedure accurately reflects or assesses or captures the specific concept that the researcher is attempting to measure (measuring what you actually want to measure)
reliability – extent a measuring procedure yields consistent results on repeated administrations of the scale (exact same results every time) validity – degree of measuring procedure accurately reflects or assesses or captures the specific concept that the researcher is attempting to measure (measuring what you actually want to measure)
31
objectives of epidemiology: frequency population distribution disease causation application determinants of health 1. who is being affected by the disorder = _______ 2. what determines who is affected or susceptible = ________ 3. where does the condition occur = ________ 4. when does the disease occur = _________ 5. why does the condition occur = __________ 6. how can we control/prevent health problems = _________
1. who is being affected by the disorder = population 2. what determines who is affected or susceptible = determinants of health 3. where does the condition occur = distribution 4. when does the disease occur = frequency 5. why does the condition occur = disease causation 6. how can we control/prevent health problems = application
32
models used in epidemiology: epidemiological triangle - agent - environment - vector - host ________= factor that causes disease _______= living species that harbors the disease, capable of being infected o intrinsic factors – susceptibility or response to an agent depends on factors (genetics, age, sex, immune system, etc) _________ = external conditions that allow the agent to survive and multiply where interactions between agent and host take place o extrinsic factors epidemiological triad – includes ________ , an animal that passes the pathogen on to the host
epidemiological triangle - agent = factor that causes disease - host = living species that harbors the disease, capable of being infected (may or may not be affected by disease) o intrinsic factors – susceptibility or response to an agent depends on factors (genetics, age, sex, immune system, etc) - environmental – external conditions that allow the agent to survive and multiply where interactions between agent and host take place o extrinsic factors - epidemiological triad – includes vector, an animal that passes the pathogen on to the host
33
Complex disease (ex: CV disease or DM) phenotypes occur through a combination of individual: - Genetic susceptibility (genotype) - Exposures (environmental) - Epigenetic modifications (interactions between environment and genes) DNA plays a role, but is not destiny in complex diseases Epigenome – epigenetic modification Exposome – totality of exposures (external and internal) Genetic susceptibility – overlapping risk factors for complex diseases
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34
Epigenetics: nature vs nurture Main function of epigenetics = cause some genes to be _______ or ______ - ________ – epigenetics are inherited, allows cellular specialization (stem cell becomes optic nerve cell or liver cell) - _______ – exposures (nutrition, pollution, stressors, metabolism, sleep, exercise, poverty, violence, discrimination) can cause epigenetic modification to allow organisms to adapt to their environment (survival mechanism)
Epigenetics: nature vs nurture Main function of epigenetics = cause some genes to be silent/dormant or active/expressed - Nature – epigenetics are inherited, allows cellular specialization (stem cell becomes optic nerve cell or liver cell) - Nurture – exposures (nutrition, pollution, stressors, metabolism, sleep, exercise, poverty, violence, discrimination) can cause epigenetic modification to allow organisms to adapt to their environment (survival mechanism)
35
Deoxyribo nucleic acid (DNA) single nucleotide polymorphism Nucleotides ________– double stranded structure that contains all info for development and function of an organism ________ – the subunits that comprise DNA - Adenine - Thymine - Cytosine - Guanine Genetic variations: ______________ – a single base substitution in DNA - May be able to change what protein is produced by the gene or effect how much protein is produced by the gene
Deoxyribo nucleic acid (DNA) – double stranded structure that contains all info for development and function of an organism Nucleotides – the subunits that comprise DNA - Adenine - Thymine - Cytosine - Guanine Genetic variations: single nucleotide polymorphism – a single base substitution in DNA - May be able to change what protein is produced by the gene or effect how much protein is produced by the gene
36
___________ A body of theoretical models that attempt to explain how life contexts shape health, behavior, and development - Experiences and exposures are cumulative - Early life and fetal contexts may cause profound shifts in biology and behavior into old age - Risks and protection can be transmitted across generations and populations
Life course theory A body of theoretical models that attempt to explain how life contexts shape health, behavior, and development - Experiences and exposures are cumulative - Early life and fetal contexts may cause profound shifts in biology and behavior into old age - Risks and protection can be transmitted across generations and populations
37
Ex of barker hypothesis (life course theory): dutch hunter winter - Food restrictions to pregnant women caused babies to have higher rates of adult onset diseases - Babies who were in 2nd or 3rd trimester during starvation period were low birthweight - Babies who were in 1st trimester during starvation period were normal birthweight but had worse rates of adult disease
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38
____ – traumatic experience before age 18 that person remembers as an adult - ex: Exposure, neglect, abuse, violence, imprisoned parent, substance use in house - Effects health, behaviors, life potential - maladaptive behavior (drinking, SUD, ED) may be attempts to cope - patients solutions may be a problem by health care provider - dismissing coping mechanisms as “bad habits” misses their source of origin - protective factors can build resilience and reduce risks (nurturing adult, positive adulthood relationships, counseling, mindfulness)
ACE – traumatic experience before age 18 that person remembers as an adult - Exposure, neglect, abuse, violence, imprisoned parent, substance use in house - ACE score = measures cumulative exposure to ACE - Effects health, behaviors, life potential - maladaptive behavior (drinking, SUD, ED) may be attempts to cope with ACE - patients solutions may be a problem by health care provider - dismissing coping mechanisms as “bad habits” misses their source of origin - protective factors can build resilience and reduce risks (nurturing adult, positive adulthood relationships, counseling, mindfulness)
39
stress: - Life course health development – a comprehensive model of the trajectory of health development across the life course, accounts for several different contexts - Stress (positive or tolerable stress) = __creased CO and glucose, enhanced immune functions, growth of neurons in hippocampus and prefrontal cortex - Stressed out (toxic stress) = HTN, CV disease, glucose intolerance, insulin resistance, infection, inflammation, atrophy and death of neurons in hippocampus and prefrontal cortex
- Life course health development – a comprehensive model of the trajectory of health development across the life course, accounts for several different contexts - Stress (positive or tolerable stress) = increased CO and glucose, enhanced immune functions, growth of neurons in hippocampus and prefrontal cortex - Stressed out (toxic stress) = HTN, CV disease, glucose intolerance, insulin resistance, infection, inflammation, atrophy and death of neurons in hippocampus and prefrontal cortex
40
the barker hypothesis: dutch hunter winter is an example of
Life course theory
41
Epigenetics – non-genetic influences on gene expression - On/off switch for gene expression/protein coding - How exposures get inside person (under the skin) - Most epigenetic markers are inherited - “non-genetic inheritance” b/c the DNA sequence of the gene doesn’t change, the expression is changed by switching genes on/off - Occurs shortly after fertilization - Inherited mostly from mother - May be the reason patterns of disease “run through families” - Environmental exposures can alter epigenetic markers – turn on/off as needed to enhance cell survival - Gene therapies, meds, and reduced exposures may interrupt disease pathways
Epigenetics and epigenome same thing for our purposes
42
risks, odds, or both? 1. usually expressed as % or proportion 2. higher = the greater the likelihood of the event occurring 3. usually expressed as 6:1 or 6 to 1, 6 people will experience the event for every one person that doesn’t
1. risks 2. both 3. odds
43
descriptive vs analytic epidemiology __________ epidemiology – examine relationships between who, what, where, and when to determine why _________ epidemiology – describes who, what, where, when
o analytic epidemiology – examine relationships between who, what, where, and when to determine why o descriptive epidemiology – describes who, what, where, when
44
exposome: general external, specific external or internal? 1. urban enviro 2. climate factors 3. specific contaminants 4. diet 5. social capital 6. physical activity 7. tobacco 8. systemic racism 9. metabolic factors 10. infections 11. gut microflora 12. inflammation 13. oxidative stress
GE 1. urban enviro GE 2. climate factors SE 3. specific contaminants SE 4. diet GE 5. social capital SE 6. physical activity SE 7. tobacco GE 8. systemic racism I 9. metabolic factors SE 10. infections I 11. gut microflora I 12. inflammation I 13. oxidative stress
45
GINA: Types of info protected or not protected? - Family medical hx - Carrier testing – CF, sickle cell, spinal muscular atrophy, fragile x - Prenatal genetic testing - Presymptomatic and predispositional testing – BRCA testing - Analysis of tumors, genes, mutations, or chromosomal changes
protected
46
___________ – study of distribution, frequency, and determinants of health and disease in human populations to understand causation - research method that is most commonly used in public health - foundation of evidence based practice in public health and nursing
epidemiology – study of distribution, frequency, and determinants of health and disease in human populations to understand causation - research method that is most commonly used in public health - foundation of evidence based practice in public health and nursing
47
Stress Allostatic load Chronic stress Allostasis ___________– body’s response to changing factors within yourself or environment _________ – body’s adaption to unpredictable and predictable changes in the environment (short term/acute stressors, improves survival) _________ can cause wear and tear on body’s regulatory system and degradation in health __________ – cost of chronic exposure to elevated or fluctuating endocrine/neural responses resulting from chronic stress
Stress – body’s response to changing factors within yourself or environment - Allostasis – body’s adaption to unpredictable and predictable changes in the environment (short term/acute stressors, improves survival) - Chronic stress can cause wear and tear on body’s regulatory system and degradation in health - Allostatic load – cost of chronic exposure to elevated or fluctuating endocrine/neural responses resulting from chronic stress