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Advanced Practice Nurse m m
1. Which type of genetic disease affects males more frequently than femal
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es?: Sex- m
Linked recessive. Since males only have one X and one Y, if the affected chromos
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ome has the illness, it will be expressed.
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2. In which two conditions are chromosomal abnormalities the leading kn
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own cause?: Intellectual disability and fetal miscarriage. Chromosome abnormaliti
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es are the leading known cause of intellectual disability and fetal miscarriage.
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3. What are three examples of prenatal diagnostic studies?: Chorionic villus
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msampling (CVS), amniocentesis, and preimplantation genetic testing (PGT) are ex
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amples of prenatal diagnostic studies and are performed in vitro. CVS is a form of
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genetic testing that provides genetic information found in utero and is usually perfo
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rmed between weeks 11 and 14 of pregnancy. An amniocentesis is a form of genet
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ic testing that evaluates amniotic fluid and is usually performed during the second t
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rimester, between weeks 15 and 20 of pregnancy. PGT is performed on the embry
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o prior to implantation.
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4. Which genetic disorder is characterized by the presence of a zygote ha
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ving one chromosome with a normal complement of genes and one chromo
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some with a missing gene?: Cri du chat syndrome (translated as "cry of the cat")
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mis caused by a DNA deletion. This term describes the cry often heard from a baby
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affected by the syndrome. Cri du chat syndrome can present as a microcephalic, l
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ow birth-weight baby with a piercing cry.
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5. How can an X- m m m
linked recessive disease skip generations?: The disease can be transmitted thr
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ough female carriers.
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Since females have two copies of the X chromosome, the mother may provide an
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unaffected X to a daughter or son. Furthermore, a daughter may not show signs of
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the disease because she has the other X (the only X the father can give to a female)
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to cancel it out.
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6. Which type of risk is referred to as the ratio of the disease rate among t
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he entire population to the disease rate in an unexposed population?: Relativ
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e risk is a ratio of probability, not an actual occurrence of disease.
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7. What are the empirical risks for most multifactorial diseases based on?:
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mMany factors from lifestyle to genetics affect multifactorial diseases. Observation a
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nd evaluation of each case individually provides the most thorough and accurate a
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ssessment.
8. What refers to the silenced gene of a gene pair.: The imprinted gene is the
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msilent gene of a gene pair.
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1m/m62
,9. What is the primary reason that some older adults have impaired inflam
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mation and wound healing?: The underlying chronic illness exists.
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A generalized inflammatory response seen in chronic illness depletes the body's re
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erves to fight against illness.
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10. Which cells are the body's primary defense against parasite invasion?:
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Eosinophils are the body's primary defense against parasites.
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11. What Phagocytes bacteria?: Macrophages work by eating or phagocytosing
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bacteria.
12. What is the first response to a foreign pathogen?: Helper T cells
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13. Which characteristic is the most important determinant of immunogenicity
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when considering the antigen?: Immunogenicity is primarily based on the a
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bility to recognize something foreign.
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14. How are erythrocytes destroyed when mismatched blood is administered,
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causing an ABO incompatibility?: The complement pathway is activated in r
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esponse to blood incompatibility. m m m
15. What is the hypersensitivity reaction that causes atopic dermatitis?: An i
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mmediate (type I) hypersensitivity reaction causes atopic dermatitis.
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16. Which four infections are considered fungal infections?: Infection with a fu
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ngus is called mycosis and includes dermatophytes (e.g., tineas, which refers to
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several skin mycoses, including ringworm and athlete's foot) and yeasts, whic
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h include candida and aspergillus.
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17. When is the earliest after sexual transmission of HIV that lab results can
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detect infection?: Lab testing can detect HIV RNA 4 to 10 days after sexual tr
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ansmission, whereas HIV antibody testing may take 23 to 90 days to result in a
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positive test. Repeat testing may be needed to rule out a false negative test du
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e to testing too soon after exposure, especially if a high likelihood of exposure is
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suspected.
18. What is a characteristic of exotoxins?: Exotoxins are released during bacter
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ial growth.
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19. Which dietary lifestyle choice has been associated with a decreased risk
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for developing colon cancer?: The results of decreased fat consumption have
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been widely studied and have demonstrated a decreased risk of developing co
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lon cancer. m
20. Which cancer is an individual who has worked with asbestos for over 40
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years most likely to develop?: Asbestos exposure results in an increased risk
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of lung and lung lining cancer.
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21. Which statement is true regarding ultraviolet (UV) light?
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2m/m62
, D115 master set-Advanced Pathophysiology for the
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Advanced Practice Nurse m m
The degree of damage is not affected by the light's wavelength.: UV light cau
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ses basal cell carcinoma and squamous cell carcinoma when the UVB rays hit DN
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A strands, causing thymine base pairs that are side by side to pair together, beco
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ming thymine dimers. These thymine dimers lead to cell death or cancer.
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22. Which cancer does exercise have a convincing impact on reducing?:
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Exercise-induced myokines cause apoptosis of colon cancer cells. m m m m m m m
23. Low healthcare literacy is recognized as a major risk factor in blood pres
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sure control and has been shown to have adverse effects on health outc
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omes. true or false: TRUE m m m m
By providing patient education at the appropriate literacy level, improved health
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utcomes may result. m m
24. One of the goals of the National Action Plan to Improve Health Literacy is
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to incorporate research and evidence-
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based plans of treatment from childhood through university-
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level education in a manner consistent with an individual's literacy level.
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True or false: True m m m
Ensuring the individual can understand all elements of a treatment plan is crucial f
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or understanding and compliance.
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25. What is a red flag for low healthcare literacy?: Low literacy often leads to p
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erceived noncompliance to medical instructions, including medication instructio
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ns. Ensuring the patient fully understands all instructions is critical for understa
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nding. 26. Amniocentesis is recommended for pregnant women with certa
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in health histories.m m
Which health history would result in an amniocentesis recommendation?: -
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Those who have a family history of genetic disorders
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27. Studies have identified several genes that play a role in the prevention
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of obesity.
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What do these genes influence?: Regulation of appetite-
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Research has shown that genetic mutations may cause alterations in the regulatio
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n of appetite.
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28. Which concept is data reporting that sickle cell disease affects approxi
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mately 1 in 600 black Americans an example of?: Prevalence tells us how often
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disease is seen in a population, which includes all people with the disease at a given
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mtime, at any stage in the disease progression.
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29. What describes a chromosomal defect caused by Prader-
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Willi syndrome?: Prader-
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Willi syndrome is caused by a disorder of a portion of chromosome 15. Normally, a
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3m/m62
, D115 master set-Advanced Pathophysiology for the
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portion of this chromosome is inherited from both parents. With Prader-
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Willi syndrome, the chromosome inherited from the father is problematic.
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4m/m62