Pathophysiology for the Advanced Practice
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Which type of genetic disease affects males more frequently than females? -
correct-answer-Sex-Linked recessive. Since males only have one X and one Y, if
the affected chromosome has the illness, it will be expressed.
In which two conditions are chromosomal abnormalities the leading known
cause? - correct-answer-Intellectual disability and fetal miscarriage. Chromosome
abnormalities are the leading known cause of intellectual disability and fetal
miscarriage.
What are three examples of prenatal diagnostic studies? - correct-answer-
Chorionic villus sampling (CVS), amniocentesis, and preimplantation genetic
testing (PGT) are examples of prenatal diagnostic studies and are performed in
vitro. CVS is a form of genetic testing that provides genetic information found in
utero and is usually performed between weeks 11 and 14 of pregnancy. An
amniocentesis is a form of genetic testing that evaluates amniotic fluid and is
usually performed during the second trimester, between weeks 15 and 20 of
pregnancy. PGT is performed on the embryo prior to implantation.
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,Which genetic disorder is characterized by the presence of a zygote having one
chromosome with a normal complement of genes and one chromosome with a
missing gene? - correct-answer-Cri du chat syndrome (translated as "cry of the
cat") is caused by a DNA deletion. This term describes the cry often heard from a
baby affected by the syndrome. Cri du chat syndrome can present as a
microcephalic, low birth-weight baby with a piercing cry.
How can an X-linked recessive disease skip generations? - correct-answer-The
disease can be transmitted through female carriers.
Since females have two copies of the X chromosome, the mother may provide an
unaffected X to a daughter or son. Furthermore, a daughter may not show signs
of the disease because she has the other X (the only X the father can give to a
female) to cancel it out.
Which type of risk is referred to as the ratio of the disease rate among the entire
population to the disease rate in an unexposed population? - correct-answer-
Relative risk is a ratio of probability, not an actual occurrence of disease.
What are the empirical risks for most multifactorial diseases based on? - correct-
answer-Many factors from lifestyle to genetics affect multifactorial diseases.
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,Observation and evaluation of each case individually provides the most thorough
and accurate assessment.
What refers to the silenced gene of a gene pair. - correct-answer-The imprinted
gene is the silent gene of a gene pair.
What is the primary reason that some older adults have impaired inflammation
and wound healing? - correct-answer-The underlying chronic illness exists.
A generalized inflammatory response seen in chronic illness depletes the body's
reserves to fight against illness.
Which cells are the body's primary defense against parasite invasion? - correct-
answer-Eosinophils are the body's primary defense against parasites.
What Phagocytes bacteria? - correct-answer-Macrophages work by eating or
phagocytosing bacteria.
What is the first response to a foreign pathogen? - correct-answer-Helper T cells
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, Which characteristic is the most important determinant of immunogenicity when
considering the antigen? - correct-answer-Immunogenicity is primarily based on
the ability to recognize something foreign.
How are erythrocytes destroyed when mismatched blood is administered, causing
an ABO incompatibility? - correct-answer-The complement pathway is activated
in response to blood incompatibility.
What is the hypersensitivity reaction that causes atopic dermatitis? - correct-
answer-An immediate (type I) hypersensitivity reaction causes atopic dermatitis.
Which four infections are considered fungal infections? - correct-answer-Infection
with a fungus is called mycosis and includes dermatophytes (e.g., tineas, which
refers to several skin mycoses, including ringworm and athlete's foot) and yeasts,
which include candida and aspergillus.
When is the earliest after sexual transmission of HIV that lab results can detect
infection? - correct-answer-Lab testing can detect HIV RNA 4 to 10 days after
sexual transmission, whereas HIV antibody testing may take 23 to 90 days to
result in a positive test. Repeat testing may be needed to rule out a false negative
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