ADV AP Exam 1 Flashcards
This disease is caused by a deletion of part of the short
arm of chromosome 5.
Cri du chat
Broken chromosomes and lost DNA cause deletions. Usually, a gamete with a deletion unites
with a normal gamete to form a zygote. The zygote thus has one chromosome with the normal
complement of genes and one with some missing genes. Because many genes can be lost in a
deletion, serious consequences result, even though one normal chromosome is present. The most
often cited example of a disease caused by a chromosomal deletion is this syndrome:
Cri du chat
The term literally means “cry of the cat” and describes the characteristic cry of the affected child.
Other symptoms include low birth weight, severe intellectual disability, microcephaly (smaller
than normal head size), and heart defects.
Cri du chat
- Not considered to be intellectually
disabled, although some impairment of spatial and mathematical reasoning ability is found. - Male/ female
findings: found only in females. - Musculoskeletal system: Short stature common, characteristic webbing of
neck, widely spaced nipples, reduced carrying angle at elbow Systemic disorders Coarctation (narrowing)
of aorta, edema of feet in newborns, usually sterile and have gonadal streaks rather than ovaries; streaks
are sometimes susceptible to cancer Mortality About 15%-20% of spontaneous abortions with
chromosome abnormalities have this karyotype, most common single-chromosome aberration; highly
lethal during gestation, only about 0.5% of these conceptions survive to term
Turner’s
Causative factors 75%
inherit X chromosome from mother, thus caused by meiotic error in father.
Turner’s
The gene responsible for this disease encodes a chloride ion channel in some epithelial cells.
Cystic fibrosis
Defective
transport of chloride ions leads to a salt imbalance, which results in secretions of abnormally thick,
dehydrated mucus. Some digestive organs, particularly the pancreas, become obstructed, causing
malnutrition, and the lungs become clogged with mucus, making them highly susceptible to bacterial
infections.
Cystic fibrosis
Death from lung disease or heart failure occurs before age 40 years in about half the
individuals with this disease.
Cystic fibrosis
4-1. A report comes back indicating that muscular atrophy has occurred. A nurse recalls that
muscular atrophy involves a decrease in muscle cell:
a. number.
b. size.
c. vacuoles.
d. lipofuscin.
ANS: B
Atrophy is a decrease or shrinkage in cellular size. Hyperplasia is an increase in the number of
cells. Vacuoles are membrane-bound vesicles within the cell that contain cellular debris and
hydrolytic enzymes. Lipofuscin is the yellow-brown age pigment.
4-2. During childhood, the thymus decreases in size, and this is referred to as what type of
atrophy?
a. Physiologic
b. Pathologic
c. Disuse
d. Neurogenic
ANS: A
A normal decrease in cell size is physiologic atrophy. Atrophy can result from disease
(pathologic), disuse, or nerve injury (neurogenic).
4-3. When planning care for a cardiac patient, the nurse knows that in response to an increased
workload, cardiac myocardial cells will experience hypertrophy which is an:
a. increase in size.
b. decrease in length.
c. increase in excitability.
d. decrease in number.
ANS: A
Hypertrophy is a compensatory increase in the size of cells in response to mechanical stimuli
(also called mechanical load or stress, such as from stretching, repetitive, chronic, pressure, or
volume overload) and consequently increases the size of the affected organ. The cells of the
heart and kidneys are particularly prone to enlargement. A decrease in length is not associated
with hypertrophy. A deficiency of electrolytes or minerals could lead to an increase in
excitability; it is not due to increased workload or related to hypertrophy. A decrease in cell
numbers is referred to as hypoplasia.
4-4. A 55-year-old male with a 30-year history of smoking is examined for respiratory disturbance.
Examination of his airway (bronchial) reveals that stratified squamous epithelial cells have
replaced the normal columnar ciliated cells. This type of cellular adaptation is called:
a. anaplasia.
b. hyperplasia.
c. metaplasia.
d. dysplasia.
ANS: C
Metaplasia is the reversible replacement of one mature cell type by another, sometimes a less
differentiated cell type. Anaplasia is loss of cellular differentiation. Hyperplasia is an increase
in the number of cells resulting from an increased rate of cellular division. Dysplasia refers to
abnormal changes in the size, shape, and organization of mature cells.
4-5. When planning care for the pregnant patient, the nurse will recall that the mammary glands
enlarge as a consequence of:
a. compensatory hyperplasia.
b. hormonal hyperplasia.
c. hormonal anaplasia.
d. compensatory anaplasia.
ANS: B
An increase in the mammary glands during pregnancy is a result of hormonal changes. The
number of mammary cells increases in response to increased hormone levels, not as a
compensatory mechanism. Anaplasia is a reversal to less mature cells.
4-6. A 24-year-old female presents with excessive menstrual bleeding. The physician identified
endometrial changes that are due to hormonal imbalances. These cellular changes would be
referred to as:
a. dysplasia.
b. pathologic dysplasia.
c. hyperplasia.
d. pathologic hyperplasia
ANS: D
Because the changes are due to an imbalance, they would be considered pathologic
hyperplasia, a term more descriptive than simple hyperplasia. The endometrial changes were
not abnormal in size and shape; thus, it is not dysplasia regardless of cause.
4-7. A 55-year-old male is diagnosed with hepatocellular cancer secondary to hepatitis C. If the
cancerous region of the liver is removed, the remaining cells would undergo:
a. pathologic hyperplasia.
b. pathologic metaplasia.
c. compensatory hyperplasia.
d. compensatory aplasia.
ANS: C
Compensatory hyperplasia is an adaptive, not pathologic, mechanism that enables certain
organs to regenerate. Metaplasia is the reversible replacement of one mature cell type by
another, sometimes less differentiated, cell type. Aplasia is not a compensatory mechanism.
4-8. A 40-year-old female’s Pap smear indicates abnormal changes in the shape and organization
of cervical cells. Which term would be used to identify this type of change?
a. Metaplasia
b. Atrophy
c. Hypertrophy
d. Dysplasia
ANS: D
When cervical cells undergo dysplasia, there is a change in their size, shape, and organization.
Metaplasia is the reversible replacement of one mature cell type. The cells have not decreased
in size; therefore, atrophy is incorrect. The cells have not increased in size in response to
stimuli; therefore, they have not hypertrophied.
2-19. A patient, age 9, is admitted to a pediatric unit with Duchenne muscular dystrophy. When
planning care, the nurse recalls the patient inherited this condition through a trait that is:
a. X-linked dominant.
b. X-influenced.
c. X-limited.
d. X-linked recessive.
ANS: D
Duchenne muscular dystrophy is a relatively common X-linked recessive, not dominant,
disorder. While it is sex linked, it is not X-limited or X-influenced.
A relatively common X-linked recessive disorder is __________, which affects
approximately 1 in 3500 males.
Duchenne muscular dystrophy (DMD)
As its name suggests, this disorder is characterized by progressive muscle
degeneration.
Duchenne (DMD)
Affected individuals usually are unable to walk by age 10 or 12 years.
Duchenne DMD
The ________ gene is
the largest gene ever found in humans, spanning more than 2 million DNA bases. It encodes a previously
undiscovered muscle protein, termed dystrophin. Extensive study of dystrophin indicates that it plays an
essential role in maintaining the structural integrity of muscle cells: it may also help regulate the activity
of membrane proteins.
DMD Duchenne
Most cases of _____ are caused by frameshift deletions of portions of the _____ gene
and thus involve alterations of the amino acids encoded by the DNA following the deletion. The most
common mating type involving X-linked recessive genes is the combination of a carrier female and a
normal male.
DMD Duchenne
On average, the carrier mother will transmit the disease-causing allele to half
her sons (who are affected) and half her daughters (who are carriers).
Duchenne DMD
2-10. After a geneticist talks to a patient about being a chromosomal mosaic, the patient asks the
nurse what that means. How should the nurse respond? You may _____ genetic disease(s).
a. only be a carrier of the
b. have a mild form of the
c. have two
d. be sterile as a result of the
ANS: B
A chromosomal mosaic means the body has two or more different cell lines, each of which
has a different karyotype; thus, the person has a mild form of the disease. Mosaics are not
only carriers; they have the disease; they have two different lines but not two different
diseases; and they are not necessarily sterile.
2-14. What genetic disorder is the result if an individual possesses an XXY chromosome
configuration?
a. Turner
b. Klinefelter
c. Down
d. Fragile X
ANS: B
Individuals with at least two X chromosomes and one Y chromosome in each cell (47 XXY
karyotype) have a disorder known as Klinefelter syndrome. A condition with the presence of a
single X chromosome and no homologous X or Y chromosome, so the individual has a total
of 45 chromosomes, is known as Turner syndrome. Down syndrome is a trisomy. Fragile X
syndrome is due to a break or a gap in a chromosome, not an extra chromosome.
2-23. What is the diagnosis of a 13-year-old female who has a karyotype that reveals an absent
homologous X chromosome with only a single X chromosome present? Her features include a
short stature, widely spaced nipples, and a reduced carrying angle at the elbow.
a. Down syndrome
b. Cri du chat syndrome
c. Turner syndrome
d. Klinefelter syndrome
ANS: C
Turner syndrome is characterized by short stature, female genitalia, webbed neck, shield-like
chest with underdeveloped breasts and widely spaced nipples, and imperfectly developed
ovaries. Down syndrome is characterized by distinctive characteristics: low nasal bridge,
epicanthal folds, protruding tongue, and low-set ears. Cri du chat syndrome is characterized
by low birth weight, severe mental retardation, microcephaly (smaller than normal head size),
and heart defects. Klinefelter syndrome is characterized by small testes, some development of
the breasts, sparse body hair, and long limbs.
2-21. A 12-year-old male is diagnosed with Klinefelter syndrome. His karyotype would reveal
which of the following?
a. XY
b. XX
c. XYY
d. XXY
ANS: D
A person with Klinefelter syndrome has an XXY karyotype. An XY is a normal male. An XX
is a normal female. An XYY is an aneuploid karyotype.
XXY karyotype pertains to:
Klinefelter syndrome
2-13. A 13-year-old girl has a karyotype that reveals an absent homologous X chromosome with
only a single X chromosome present. What medical diagnosis will the nurse observe on the
chart?
a. Down syndrome
b. Cri du chat syndrome
c. Turner syndrome
d. Fragile X syndrome
ANS: C
A condition with the presence of a single X chromosome and no homologous X or Y
chromosome, so the individual has a total of 45 chromosomes, is known as Turner syndrome.
Down syndrome is a change in one arm of a chromosome. Cri du chat syndrome is due to a
chromosome deletion. Fragile X syndrome is due to a break or a gap in a chromosome.
Missing an X chromosome, so you only have 45 chromosomes.
(Person only has one ‘X’.)
Turner syndrome
Is due to a break or a gap in a chromosome, not an extra chromosome.
Fragile X
A condition with the presence of a
single X chromosome and no homologous X or Y chromosome, so the individual has a total
of 45 chromosomes, is known as _________
Turner syndrome
2-17. Cystic fibrosis is caused by what gene abnormality?
a. X-linked dominant
b. X-linked recessive
c. Autosomal dominant
d. Autosomal recessive
ANS: D
Cystic fibrosis is an autosomal recessive disorder. It is not a result of X links or dominant
pathology.
2-20. A child is diagnosed with cystic fibrosis. History reveals that the child’s parents are siblings.
Cystic fibrosis was most likely the result of:
a. X-inactivation.
b. genomic imprinting.
c. consanguinity.
d. obligate carriers.
ANS: C
Consanguinity refers to the mating of two related individuals, and the offspring of such
matings are said to be inbred. Consanguineous matings produce a significant increase in
recessive disorders and are seen most often in pedigrees for rare recessive disorders.
X-inactivation occurs when one X chromosome in the somatic cells of females is permanently
inactivated. Genomic imprinting is related to methylation and other changes. Obligate carriers
are those who have an affected parent and affected children and, therefore, must themselves
carry the mutation.
2-15. A patient demonstrates severe mental retardation caused by a deletion of part of chromosome
5. What genetic disorder will the nurse see documented in the chart?
a. Prader-Willi syndrome
b. Down syndrome
c. Cri du chat syndrome
d. Trisomy X
ANS: C
Cri du chat syndrome means “cry of the cat” and describes the characteristic cry of the
affected child. Another symptom of the disorder is mental retardation. The disease is caused
by a deletion of part of the short arm of chromosome 5. Prader-Willi syndrome is
characterized by short stature, obesity, and hypogonadism. Down syndrome does cause
mental retardation but is due to chromosome 21, not chromosome 5. Trisomy X can result in
mental retardation but is due to an extra X chromosome.
2-30. Which of the following disorders is manifested primarily in males?
a. Cystic fibrosis
b. Neurofibromatosis
c. Muscular dystrophy
d. Klinefelter syndrome
ANS: C
Muscular dystrophy is manifested primarily in males. Cystic fibrosis, neurofibromatosis, and
Klinefelter syndrome are manifested in both males and females.
4-14. A family presents to their primary care provider reporting headache, nausea, weakness,
tinnitus, and vomiting. Which of the following would be the most likely explanation for these
symptoms?
a. Lead exposure
b. Carbon monoxide poisoning
c. Ethanol exposure
d. Mercury poisoning
ANS: B
Symptoms related to carbon monoxide poisoning include headache, giddiness, tinnitus
(ringing in the ears), nausea, weakness, and vomiting. Although nausea and vomiting can
occur with lead exposure, lead toxicity is primarily manifested by convulsions and delirium
and, with peripheral nerve involvement, wrist, finger, and sometimes foot paralysis. Ethanol
exposure has CNS effects and would not affect the whole family. Mercury poisoning is
manifested by CNS effects and would not lead to nausea and vomiting.
4-19. A 15-year-old female presents to the ER following a physical assault. She has internal damage
to the neck with deep bruising. X-ray reveals fractures of the hyoid bone and tracheal and
cricoid cartilage. Which of the following most likely caused her injuries?
a. Chemical asphyxiation
b. Choking asphyxiation
c. Ligature strangulation
d. Manual strangulation
ANS: D
Squeezing of the neck as with strangulation would fracture the hyoid bone. Chemical
asphyxiation would lead to breathing problems but would not result in fracture. Choking
asphyxiation would lead to swelling of tissues but would not result in fracture. In ligature
strangulation, the mark on the neck is horizontal without the inverted V pattern seen in
hangings. It would not lead to fracture.
Leads to loss of sodium and
water.
Dehydration
7-2. Which patient will develop active immunity? A patient who:
a. has natural exposure to an antigen or receives an immunization.
b. receives preformed antibodies or T cells from a donor.
c. has T cells that become B cells.
d. receives immunoglobulin.
ANS: A
Active immunity occurs either after natural exposure to an antigen or after immunization, not
with preformed antibodies or the transformation of T cells into B cells or as a result of
receiving immunoglobulin.
7-3. An experiment is designed to determine specific cell types involved in cell-mediated immune
response. The experimenter is interested in finding cells that attack cells that have specific
antigens. Which cells should be isolated?
a. Lymphokine-producing cells
b. T-cytotoxic cells
c. Helper T cells
d. Macrophages
ANS: B
Cell-mediated immunity is driven by T-cytotoxic (Tc) cells that attack antigens directly and
destroy cells that bear foreign antigens. Lymphokine-producing cells, helper T cells, and
macrophages do not attack antigens directly and destroy cells that bear foreign antigens.
6-1. A public health nurse is teaching the community about health promotion. Which information
should the nurse include for innate immunity? Innate immunity is gained:
a. following an illness.
b. at birth.
c. via injection of specific antibodies.
d. in adulthood.
ANS: B
Innate immunity is present at birth, and is considered the body’s first line of defense. It is not
dependent on illness or injection.
6-3. A 20-year-old male received a knife wound to the arm during an altercation. Which of the
following types of immunity was compromised?
a. Innate immunity
b. Inflammatory response
c. Adaptive immunity
d. Specific immunity
ANS: A
The epithelial cells of the skin are a part of innate immunity. The inflammatory response is
not a type of immunity. Adaptive immunity is represented by the normal flora of the bowel.
Specific immunity is a type of adaptive immunity and is not associated with a break in skin
integrity.
6-12. The predominant phagocyte of early inflammation is the:
a. eosinophil.
b. neutrophil.
c. lymphocyte.
d. macrophage.
ANS: B
Neutrophils are the predominant phagocytes in the early inflammatory site, arriving within
6–12 hours after the initial injury. Eosinophils help limit and control inflammation, but they
are not the prominent phagocyte. Lymphocytes are part of the innate immune response.
Macrophages kill microorganisms.
This immunity is represented by the normal flora of the bowel.
Adaptive
This immunity is a type of adaptive immunity and is not associated with a break in skin
integrity.
Specific
The epithelial cells of the skin are a part of _____ immunity.
innate
6-8. A nurse recalls the mast cell, a major activator of inflammation, initiates the inflammatory
response through the process of:
a. chemotaxis.
b. endocytosis.
c. degranulation.
d. opsonization.
ANS: C
Degranulation of mast cells is a major cellular component of inflammation. Chemotaxis is the
process of white cell migration. Endocytosis and opsonization are parts of phagocytosis but
are not factors in mast cell response.
6-13. A 25-year-old female experiences a headache and takes aspirin for relief. A nurse recalls
aspirin relieves the headache by:
a. decreasing leukotriene production.
b. increasing histamine release.
c. decreasing prostaglandin production.
d. increasing platelet-activating factor.
ANS: C
Aspirin is a prostaglandin inhibitor. Aspirin is not associated with leukotriene production,
histamine release, or platelet-activating factor.
6-14. Which factor will help the nurse differentiate leukotrienes from histamine?
a. Site of production
b. Vascular effect
c. Chemotactic ability
d. Time of release
ANS: D
Leukotrienes are released slower and longer than histamine. Both leukotrienes and histamine
are produced by mast cells, and they have similar vascular effects and chemotactic abilities.
6-15. A 25-year-old male is in a car accident and sustains a fracture to his left femur with extensive
soft tissue injury. The pain associated with the injury is related to:
a. histamine.
b. prostaglandins.
c. vasoconstriction.
d. immune complex formation.
ANS: B
Prostaglandins cause increased vascular permeability, neutrophil chemotaxis, and pain by
direct effects on nerves. Histamine promotes vasodilation. Prostaglandins are not associated
with vasoconstriction or the immune complex formation.
6-16. The complement, clotting, and kinin systems share which of the following characteristics?
a. Activation of a series of proenzymes
b. Phagocytosis initiation
c. Granulocyte production
d. Activated by interferon
ANS: A
The complement system, the clotting system, and the kinin system are normally in inactive
forms but can activate in a series as proenzymes and are involved in the inflammatory
process. This system is not associated with phagocytosis, granulocyte production, or the
activation of interferon.
6-17. Which statement indicates teaching was successful regarding the classical pathway of the
complement system? The classical pathway of the complement system is activated by:
a. histamine.
b. antigen-antibody complexes.
c. leukotrienes.
d. prostaglandins.
ANS: B
The classical pathway of the complement system is activated by antibodies of the immune
system, not by histamine, leukotrienes, or prostaglandins.
6-23. A 10-year-old male is diagnosed with a parasite. Which lab result should the nurse check for a
response to the parasite?
a. Monocytes
b. Eosinophils
c. Neutrophils
d. Macrophages
ANS: B
Eosinophils serve as the body’s primary defense against parasites. Monocytes and neutrophils
are phagocytic. Macrophages are not active against parasites; they act as long-term defense
against infections.
7-4. A 6-year-old female is diagnosed with a bacterial infection of the respiratory system. Which
of the following will most likely try to fight the antigen?
a. Antibodies
b. Cytotoxic T cells
c. Self-antigens
d. Helper T cells
ANS: A
Antibodies are produced by plasma cells that mature from lymphocytes, called B lymphocytes
(B cells), in response to an antigen. Cytotoxic T cells do not respond to antigens. Self-antigens
do not respond to antigens. Helper T cells do not respond to antigens.
7-12. A 10-year-old male is stung by a bee while playing in the yard. He experiences a severe
allergic reaction and has to go to the ER. The nurse providing care realizes this reaction is the
result of:
a. toxoids.
b. IgA.
c. IgE.
d. IgM.
ANS: C
IgE is normally at low concentrations in the circulation. It has very specialized functions as a
mediator of many common allergic responses. Neither toxoids, IgA, nor IgM is the mediator
of common allergic response.
7-6. The predominant antibody of a typical primary immune response is:
a. IgG.
b. IgM.
c. IgA.
d. IgE.
ANS: B
IgM is the largest immunoglobulin and is the first antibody produced during the initial, or
primary, response to antigen.
7-8. A 23-year-old pregnant female visits her primary care provider for her final prenatal checkup.
The primary care provider determines that the fetus has developed an infection in utero.
Which of the following would be increased in the fetus at birth?
a. IgG
b. IgA
c. IgM
d. IgD
ANS: C
IgM is synthesized early in neonatal life, and its synthesis may be increased as a response to
infection in utero.
Occurs when an assailant’s hands compress the neck of the victim to the
point where death by asphyxiation occurs. There is evidence of variable amounts of external
trauma to the neck. Contusions and abrasions are either caused directly by the assailant or by the
victim clawing at their own neck in an attempt to remove the assailant’s hands. Internal damage
can be quite severe; bruising of deep structures, including fractures of the hyoid bone, the
tracheal cartilage, and the cricoid cartilages, are seen. Petechiae are common.
Manual strangulation
Refers to nonspecific defense mechanisms that come into play immediately or within
hours of an antigen’s appearance in the body. These mechanisms include physical barriers such as skin,
chemicals in the blood, and immune system cells that attack foreign cells in the body. The innate
immune response is activated by chemical properties of the antigen.
Innate Immunity
The third line of defense in the human body is _____, which is acquired or specific, often called
the immune response or immunity.
Adaptive Immunity
