Advanced
Pathophysiology for the
Advanced Practice Nurse
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,Which genetic disorder is characterized by the Cri du chat syndrome (translated as "cry of the cat") is caused by a DNA
presence of a zygote having one chromosome with a deletion. This term describes the cry often heard from a baby affected by the
normal complement of genes and one chromosome syndrome. Cri du chat syndrome can present as a microcephalic, low birth-
with a missing gene? weight baby with a piercing cry.
How can an X-linked recessive disease skip The disease can be transmitted through female carriers.
generations?
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 Relative risk is a ratio of probability, not an actual occurrence of disease.
disease rate among the entire population to the disease
rate in an unexposed population?
What are the empirical risks for most multifactorial Many factors from lifestyle to genetics affect multifactorial diseases.
diseases based on? Observation and evaluation of each case individually provides the most
thorough and accurate assessment.
What refers to the silenced gene of a gene pair. The imprinted gene is the silent gene of a gene pair.
What is the primary reason that some older adults have The underlying chronic illness exists.
impaired inflammation and wound healing? 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 Eosinophils are the body's primary defense against parasites.
parasite invasion?
What Phagocytes bacteria? Macrophages work by eating or phagocytosing bacteria.
What is the first response to a foreign pathogen? Helper T cells
Which characteristic is the most important determinant Immunogenicity is primarily based on the ability to recognize something
of immunogenicity when considering the antigen? foreign.
How are erythrocytes destroyed when mismatched The complement pathway is activated in response to blood incompatibility.
blood is administered, causing an ABO incompatibility?
What is the hypersensitivity reaction that causes atopic An immediate (type I) hypersensitivity reaction causes atopic dermatitis.
dermatitis?
,Which four infections are considered fungal infections? 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 testing can detect HIV RNA 4 to 10 days after sexual transmission, whereas
lab results can detect infection? 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 test due to testing too soon
after exposure, especially if a high likelihood of exposure is suspected.
What is a characteristic of exotoxins? Exotoxins are released during bacterial growth.
Which dietary lifestyle choice has been associated with The results of decreased fat consumption have been widely studied and have
a decreased risk for developing colon cancer? demonstrated a decreased risk of developing colon cancer.
Which cancer is an individual who has worked with Asbestos exposure results in an increased risk of lung and lung lining cancer.
asbestos for over 40 years most likely to develop?
Which statement is true regarding ultraviolet (UV) light? UV light causes basal cell carcinoma and squamous cell carcinoma when the
The degree of damage is not affected by the light's UVB rays hit DNA strands, causing thymine base pairs that are side by side to
wavelength. pair together, becoming thymine dimers. These thymine dimers lead to cell
death or cancer.
Which cancer does exercise have a convincing impact Exercise-induced myokines cause apoptosis of colon cancer cells.
on reducing?
Low healthcare literacy is recognized as a major risk TRUE
factor in blood pressure control and has been shown to By providing patient education at the appropriate literacy level, improved
have adverse effects on health outcomes. health outcomes may result.
true or false
One of the goals of the National Action Plan to True
Improve Health Literacy is to incorporate research and Ensuring the individual can understand all elements of a treatment plan is
evidence-based plans of treatment from childhood crucial for understanding and compliance.
through university-level education in a manner
consistent with an individual's literacy level.
True or false
What is a red flag for low healthcare literacy? Low literacy often leads to perceived noncompliance to medical instructions,
including medication instructions. Ensuring the patient fully understands all
instructions is critical for understanding.
Amniocentesis is recommended for pregnant women Those who have a family history of genetic disorders
with certain health histories.
Which health history would result in an amniocentesis
recommendation?
, Studies have identified several genes that play a role in Regulation of appetite-Research has shown that genetic mutations may cause
the prevention of obesity. alterations in the regulation of appetite.
What do these genes influence?
Which concept is data reporting that sickle cell disease Prevalence tells us how often disease is seen in a population, which includes all
affects approximately 1 in 600 black Americans an people with the disease at a given time, at any stage in the disease progression.
example of?
What describes a chromosomal defect caused by Prader-Willi syndrome is caused by a disorder of a portion of chromosome 15.
Prader-Willi syndrome? Normally, a portion of this chromosome is inherited from both parents. With
Prader-Willi syndrome, the chromosome inherited from the father is
problematic.
Which action is a purpose of the inflammatory process? Prevent infection of the injured tissue
The inflammatory response is a defense mechanism designed to remove
damaged tissue so the body can heal.
Which leukocytes are elevated in response to acute Neutrophils are one of the first responders to acute inflammation, and an
inflammatory reactions when considering white blood increase in neutrophils demonstrates an acute inflammatory response.
cell differentials?
Monocytes
Neutrophils
Basophils
Eosinophils
Which type of immunity is produced by an individual Active-acquired immunity or naturally acquired active immunity occurs when an
after either natural exposure to the antigen or after individual is exposed to a live pathogen and develops the disease or becomes
immunization against the antigen? immune as a result of a vaccine.
Which characteristics do atopic individuals have that The greater quantities of IgE in atopic individuals make them genetically
make them genetically predisposed to develop predisposed to develop allergies. IgE mediates the immune response to
allergies? allergens; therefore, the more IgE one has, the stronger the response can be to
an allergen. Think of it as having more soldiers in the army to fight the war.
A healthcare professional is conducting community Vaccines require booster injections to maintain life-long protection.
education on vaccinations. Most vaccines require a booster to increase immunity. The initial effects of a
Which statement about vaccines should the vaccine may diminish over time, and boosters improve protection against
professional include in the presentation? disease.
Which term describes an agent's ability to produce Pathogenicity refers to an organism's ability to create or produce disease.
disease?
What are signs and symptoms of Cri du Chrat DNA deletion of chromosome 5. low birth weight, mental retardation,
Syndrome? microencephaly, and cat like cry
What are the 3 layers of human defense? Physical, Mechanical, biochemical barriers