lOMoARcPSD|44532475
Final Exam Study Guide (Chapters 1-14)
*This guide does not replace your reading, modules, and lectures; it is simply to supplement your efforts
with more precise guidance.
*Pathophysiology: the study of diseases, or the abnormal function of body systems; this is what this
class is about and should be what you focus on understanding.
Chapter 1
X-linked recessive trait
9. A Recessive gene is one that produces an effect only in the homozygous state.
21. __________ syndrome occurs in males when there is an extra X chromosome: Kinefelter
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, reduced carrying angle at the elbow, and sparse body hair.
D) Turner syndrome
24. 24. A normal male and a female carrier for red–green color blindness want to have children.
Given that red–green color blindness is an X-linked recessive trait, what information should be
given to the parents? D) Males mostly affected; females mostly carriers
25. A 5-year-old male presents with mental retardation and is diagnosed with Fragile X
syndrome. When the parents ask what caused this, the nurse practitioner responds with:
C) expansion of cytosine-guanine-guanine (CGG) repeats 200.
26. To express a polygenic trait:
B) several genes must act together.
Reasons and risk factors for chromosomal abnormalities
4. What is a possible reason for increased risk for chromosomal abnormalities with older
maternal age? The older ova are more likely to have errors during meiosis
Know how to calculate recurrence risks of autosomal dominant diseases
22. A couple has three offspring: one child has an autosomal dominant disease trait and the
other two children do not have the trait. The father is affected by the autosomal dominant
disease, but the mother does not have the disease gene. What is the recurrence risk of this
autosomal dominant disease for their next child? A) 50%
Chapter 2
Understand inflammation process
2. The chronic inflammatory response can occur because: A) organisms can live in granulomas.
16. Which of the following is true about inflammation? E) It exists in almost all chronic illness in
the body.
Downloaded by madiba South Africa stuvia ()
, lOMoARcPSD|44532475
Systemic lupus erythematosus (SLE)
10. The arthritis in systemic lupus erythematosus is generally: B) migratory and symmetrical.
11. In addition to a positive antinuclear antibody test, which of the following diagnostic test
findings is consistent with a diagnosis of systemic lupus erythematosus? A) Positive anti-double
stranded DNA
12. A 20-year-old woman was just diagnosed with systemic lupus erythematosus. What are
strategies she needs to learn to prevent exacerbations? A) Wearing sunscreen and minimizing
sun exposure
Know and understand IgG, IgM, IgA, and IgE
6. A woman just returned from hiking and she is concerned she has Lyme disease. A positive
result in which of the following antibody test results would indicate she has an acute infection?
D) Immunoglobulin M
13. Which of the following is an immunoglobin E (IgE)-mediated hypersensitivity reaction? D) A
penicillin reaction characterized by fall in blood pressure and respiratory distress after an
injection of penicillin in a person who has become sensitized to penicillin as a result of a
previous penicillin injection
Chapter 3
What is TPA and how does it work?
4. A 50-year-old man is having an acute myocardial infarction and will be administered
recombinant tissue plasminogen activator (t-PA). C) promote fibrinolysis.
Understand the coagulation cascade and the co-factors associated
3. __________ are two important cofactors necessary in the coagulation cascade. D) Fibrinogen
and calcium
19. A 5-year-old male child has a bleeding disease that is characterized by areas of hemorrhage
in the joints and muscles after minor injuries. Laboratory tests reveal a deficiency of a
coagulation factor active in the early phase of blood coagulation (formation of intrinsic
thromboplastin). What is the most likely diagnosis? B) Hemophilia
Iron deficiency anemia
o RBCs: Macrocytic, microcytic, normocytic, hypochromic, or normochromic
17. Iron-deficiency anemia is characterized by red blood cells that are B) microcytic and
hypochromic.
18. A 60-year-old woman is diagnosed with iron deficiency anemia. The transferrin level is high
with this type of anemia because: C) the body is trying to deliver more iron.
20. A 55-year-old woman has a hypochromic, microcytic anemia. The most likely cause is: C) iron
deficiency resulting from chronic gastrointestinal blood loss.
Downloaded by madiba South Africa stuvia ()
Final Exam Study Guide (Chapters 1-14)
*This guide does not replace your reading, modules, and lectures; it is simply to supplement your efforts
with more precise guidance.
*Pathophysiology: the study of diseases, or the abnormal function of body systems; this is what this
class is about and should be what you focus on understanding.
Chapter 1
X-linked recessive trait
9. A Recessive gene is one that produces an effect only in the homozygous state.
21. __________ syndrome occurs in males when there is an extra X chromosome: Kinefelter
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, reduced carrying angle at the elbow, and sparse body hair.
D) Turner syndrome
24. 24. A normal male and a female carrier for red–green color blindness want to have children.
Given that red–green color blindness is an X-linked recessive trait, what information should be
given to the parents? D) Males mostly affected; females mostly carriers
25. A 5-year-old male presents with mental retardation and is diagnosed with Fragile X
syndrome. When the parents ask what caused this, the nurse practitioner responds with:
C) expansion of cytosine-guanine-guanine (CGG) repeats 200.
26. To express a polygenic trait:
B) several genes must act together.
Reasons and risk factors for chromosomal abnormalities
4. What is a possible reason for increased risk for chromosomal abnormalities with older
maternal age? The older ova are more likely to have errors during meiosis
Know how to calculate recurrence risks of autosomal dominant diseases
22. A couple has three offspring: one child has an autosomal dominant disease trait and the
other two children do not have the trait. The father is affected by the autosomal dominant
disease, but the mother does not have the disease gene. What is the recurrence risk of this
autosomal dominant disease for their next child? A) 50%
Chapter 2
Understand inflammation process
2. The chronic inflammatory response can occur because: A) organisms can live in granulomas.
16. Which of the following is true about inflammation? E) It exists in almost all chronic illness in
the body.
Downloaded by madiba South Africa stuvia ()
, lOMoARcPSD|44532475
Systemic lupus erythematosus (SLE)
10. The arthritis in systemic lupus erythematosus is generally: B) migratory and symmetrical.
11. In addition to a positive antinuclear antibody test, which of the following diagnostic test
findings is consistent with a diagnosis of systemic lupus erythematosus? A) Positive anti-double
stranded DNA
12. A 20-year-old woman was just diagnosed with systemic lupus erythematosus. What are
strategies she needs to learn to prevent exacerbations? A) Wearing sunscreen and minimizing
sun exposure
Know and understand IgG, IgM, IgA, and IgE
6. A woman just returned from hiking and she is concerned she has Lyme disease. A positive
result in which of the following antibody test results would indicate she has an acute infection?
D) Immunoglobulin M
13. Which of the following is an immunoglobin E (IgE)-mediated hypersensitivity reaction? D) A
penicillin reaction characterized by fall in blood pressure and respiratory distress after an
injection of penicillin in a person who has become sensitized to penicillin as a result of a
previous penicillin injection
Chapter 3
What is TPA and how does it work?
4. A 50-year-old man is having an acute myocardial infarction and will be administered
recombinant tissue plasminogen activator (t-PA). C) promote fibrinolysis.
Understand the coagulation cascade and the co-factors associated
3. __________ are two important cofactors necessary in the coagulation cascade. D) Fibrinogen
and calcium
19. A 5-year-old male child has a bleeding disease that is characterized by areas of hemorrhage
in the joints and muscles after minor injuries. Laboratory tests reveal a deficiency of a
coagulation factor active in the early phase of blood coagulation (formation of intrinsic
thromboplastin). What is the most likely diagnosis? B) Hemophilia
Iron deficiency anemia
o RBCs: Macrocytic, microcytic, normocytic, hypochromic, or normochromic
17. Iron-deficiency anemia is characterized by red blood cells that are B) microcytic and
hypochromic.
18. A 60-year-old woman is diagnosed with iron deficiency anemia. The transferrin level is high
with this type of anemia because: C) the body is trying to deliver more iron.
20. A 55-year-old woman has a hypochromic, microcytic anemia. The most likely cause is: C) iron
deficiency resulting from chronic gastrointestinal blood loss.
Downloaded by madiba South Africa stuvia ()
