ESTUDYR
D115 MASTER SET-ADVANCED PATHOPHYSIOLOGY FOR THE
ADVANCED PRACTICE NURSE MOST TESTED QUESTIONS AND
ANSWERS GRADED A+ WITH RATIONALES
1. Which type of genetic disease affects males more frequently than females?
a) Autosomal dominant
b) Autosomal recessive
c) Sex-linked recessive
d) Mitochondrial inheritance
Answer: c) Sex-linked recessive
Rationale: Males are more frequently affected by sex-linked recessive disorders because they
have only one X chromosome.
2. In which two conditions are chromosomal abnormalities the leading known cause?
a) Cancer and diabetes
b) Intellectual disability and fetal miscarriage
c) Heart disease and hypertension
d) Asthma and allergies
Answer: b) Intellectual disability and fetal miscarriage
Rationale: Chromosomal abnormalities are the leading cause of intellectual disability and fetal
miscarriage.
3. Which of the following is an example of a prenatal diagnostic study?
a) Blood glucose test
b) Chorionic villus sampling (CVS)
c) Lipid profile
d) Urinalysis
Answer: b) Chorionic villus sampling (CVS)
Rationale: CVS is a prenatal diagnostic test performed between weeks 11 and 14 of pregnancy.
4. What is the primary characteristic of Cri du chat syndrome?
a) Extra chromosome 21
b) Deletion of part of chromosome 5
c) Trisomy 18
d) X-linked inheritance
Answer: b) Deletion of part of chromosome 5
Rationale: Cri du chat syndrome is caused by a deletion on chromosome 5, leading to a
distinctive cat-like cry in affected infants.
5. How can an X-linked recessive disease skip generations?
a) Through autosomal inheritance
b) Through female carriers
,ESTUDYR
c) Through mitochondrial DNA
d) Through spontaneous mutations
Answer: b) Through female carriers
Rationale: Females can carry the gene on one X chromosome without showing symptoms,
passing it to their offspring.
Risk Factors and Multifactorial Diseases
6. What is relative risk?
a) The actual occurrence of a disease
b) The ratio of disease rates in exposed vs. unexposed populations
c) The probability of inheriting a genetic disorder
d) The likelihood of a disease based on lifestyle factors
Answer: b) The ratio of disease rates in exposed vs. unexposed populations
Rationale: Relative risk compares the likelihood of a disease in two groups.
7. What are empirical risks for multifactorial diseases based on?
a) Genetic testing alone
b) Observation and evaluation of individual cases
c) Environmental factors alone
d) Random chance
Answer: b) Observation and evaluation of individual cases
Rationale: Empirical risks are determined by observing patterns in populations.
8. What refers to the silenced gene of a gene pair?
a) Dominant gene
b) Imprinted gene
c) Mutated gene
d) Recessive gene
Answer: b) Imprinted gene
Rationale: An imprinted gene is silenced, while the other gene in the pair is expressed.
Aging and Immune Response
9. What is the primary reason for impaired inflammation and wound healing in older adults?
a) Lack of exercise
b) Underlying chronic illness
c) Genetic mutations
d) Poor diet
Answer: b) Underlying chronic illness
,ESTUDYR
Rationale: Chronic illnesses deplete the body's ability to mount an effective inflammatory
response.
10. Which cells are the body's primary defense against parasite invasion?
a) Neutrophils
b) Eosinophils
c) Basophils
d) Lymphocytes
Answer: b) Eosinophils
Rationale: Eosinophils play a key role in defending against parasitic infections.
11. What is the primary function of macrophages?
a) Producing antibodies
b) Phagocytosing bacteria
c) Regulating inflammation
d) Transporting oxygen
Answer: b) Phagocytosing bacteria
Rationale: Macrophages engulf and digest bacteria and other foreign particles.
12. What is the first response to a foreign pathogen?
a) B cells
b) Helper T cells
c) Natural killer cells
d) Platelets
Answer: b) Helper T cells
Rationale: Helper T cells initiate and coordinate the immune response.
Immunogenicity and Hypersensitivity
13. What is the most important determinant of immunogenicity?
a) Size of the antigen
b) Recognition of the antigen as foreign
c) Chemical composition of the antigen
d) Location of the antigen
Answer: b) Recognition of the antigen as foreign
Rationale: Immunogenicity depends on the immune system recognizing the antigen as non-self.
14. How are erythrocytes destroyed in ABO incompatibility?
a) By phagocytosis
b) By activation of the complement pathway
c) By antibody neutralization
d) By apoptosis
, ESTUDYR
Answer: b) By activation of the complement pathway
Rationale: The complement system is activated, leading to the destruction of mismatched
erythrocytes.
15. What type of hypersensitivity reaction causes atopic dermatitis?
a) Type II
b) Type I
c) Type III
d) Type IV
Answer: b) Type I
Rationale: Atopic dermatitis is caused by an immediate (Type I) hypersensitivity reaction.
Genetic Testing and Prenatal Diagnosis
16. Which prenatal diagnostic test is performed during the second trimester?
a) Chorionic villus sampling (CVS)
b) Amniocentesis
c) Preimplantation genetic testing (PGT)
d) Blood glucose test
Answer: b) Amniocentesis
Rationale: Amniocentesis is typically performed between weeks 15 and 20 of pregnancy.
17. What is the purpose of preimplantation genetic testing (PGT)?
a) To diagnose maternal infections
b) To evaluate embryos for genetic abnormalities before implantation
c) To assess fetal lung maturity
d) To detect chromosomal abnormalities in the mother
Answer: b) To evaluate embryos for genetic abnormalities before implantation
Rationale: PGT is used to screen embryos for genetic disorders during in vitro fertilization.
Chromosomal Abnormalities
18. Which genetic disorder is characterized by a distinctive cat-like cry in infants?
a) Down syndrome
b) Cri du chat syndrome
c) Turner syndrome
d) Klinefelter syndrome
Answer: b) Cri du chat syndrome
Rationale: Cri du chat syndrome is caused by a deletion on chromosome 5 and is associated
with a high-pitched cry.
D115 MASTER SET-ADVANCED PATHOPHYSIOLOGY FOR THE
ADVANCED PRACTICE NURSE MOST TESTED QUESTIONS AND
ANSWERS GRADED A+ WITH RATIONALES
1. Which type of genetic disease affects males more frequently than females?
a) Autosomal dominant
b) Autosomal recessive
c) Sex-linked recessive
d) Mitochondrial inheritance
Answer: c) Sex-linked recessive
Rationale: Males are more frequently affected by sex-linked recessive disorders because they
have only one X chromosome.
2. In which two conditions are chromosomal abnormalities the leading known cause?
a) Cancer and diabetes
b) Intellectual disability and fetal miscarriage
c) Heart disease and hypertension
d) Asthma and allergies
Answer: b) Intellectual disability and fetal miscarriage
Rationale: Chromosomal abnormalities are the leading cause of intellectual disability and fetal
miscarriage.
3. Which of the following is an example of a prenatal diagnostic study?
a) Blood glucose test
b) Chorionic villus sampling (CVS)
c) Lipid profile
d) Urinalysis
Answer: b) Chorionic villus sampling (CVS)
Rationale: CVS is a prenatal diagnostic test performed between weeks 11 and 14 of pregnancy.
4. What is the primary characteristic of Cri du chat syndrome?
a) Extra chromosome 21
b) Deletion of part of chromosome 5
c) Trisomy 18
d) X-linked inheritance
Answer: b) Deletion of part of chromosome 5
Rationale: Cri du chat syndrome is caused by a deletion on chromosome 5, leading to a
distinctive cat-like cry in affected infants.
5. How can an X-linked recessive disease skip generations?
a) Through autosomal inheritance
b) Through female carriers
,ESTUDYR
c) Through mitochondrial DNA
d) Through spontaneous mutations
Answer: b) Through female carriers
Rationale: Females can carry the gene on one X chromosome without showing symptoms,
passing it to their offspring.
Risk Factors and Multifactorial Diseases
6. What is relative risk?
a) The actual occurrence of a disease
b) The ratio of disease rates in exposed vs. unexposed populations
c) The probability of inheriting a genetic disorder
d) The likelihood of a disease based on lifestyle factors
Answer: b) The ratio of disease rates in exposed vs. unexposed populations
Rationale: Relative risk compares the likelihood of a disease in two groups.
7. What are empirical risks for multifactorial diseases based on?
a) Genetic testing alone
b) Observation and evaluation of individual cases
c) Environmental factors alone
d) Random chance
Answer: b) Observation and evaluation of individual cases
Rationale: Empirical risks are determined by observing patterns in populations.
8. What refers to the silenced gene of a gene pair?
a) Dominant gene
b) Imprinted gene
c) Mutated gene
d) Recessive gene
Answer: b) Imprinted gene
Rationale: An imprinted gene is silenced, while the other gene in the pair is expressed.
Aging and Immune Response
9. What is the primary reason for impaired inflammation and wound healing in older adults?
a) Lack of exercise
b) Underlying chronic illness
c) Genetic mutations
d) Poor diet
Answer: b) Underlying chronic illness
,ESTUDYR
Rationale: Chronic illnesses deplete the body's ability to mount an effective inflammatory
response.
10. Which cells are the body's primary defense against parasite invasion?
a) Neutrophils
b) Eosinophils
c) Basophils
d) Lymphocytes
Answer: b) Eosinophils
Rationale: Eosinophils play a key role in defending against parasitic infections.
11. What is the primary function of macrophages?
a) Producing antibodies
b) Phagocytosing bacteria
c) Regulating inflammation
d) Transporting oxygen
Answer: b) Phagocytosing bacteria
Rationale: Macrophages engulf and digest bacteria and other foreign particles.
12. What is the first response to a foreign pathogen?
a) B cells
b) Helper T cells
c) Natural killer cells
d) Platelets
Answer: b) Helper T cells
Rationale: Helper T cells initiate and coordinate the immune response.
Immunogenicity and Hypersensitivity
13. What is the most important determinant of immunogenicity?
a) Size of the antigen
b) Recognition of the antigen as foreign
c) Chemical composition of the antigen
d) Location of the antigen
Answer: b) Recognition of the antigen as foreign
Rationale: Immunogenicity depends on the immune system recognizing the antigen as non-self.
14. How are erythrocytes destroyed in ABO incompatibility?
a) By phagocytosis
b) By activation of the complement pathway
c) By antibody neutralization
d) By apoptosis
, ESTUDYR
Answer: b) By activation of the complement pathway
Rationale: The complement system is activated, leading to the destruction of mismatched
erythrocytes.
15. What type of hypersensitivity reaction causes atopic dermatitis?
a) Type II
b) Type I
c) Type III
d) Type IV
Answer: b) Type I
Rationale: Atopic dermatitis is caused by an immediate (Type I) hypersensitivity reaction.
Genetic Testing and Prenatal Diagnosis
16. Which prenatal diagnostic test is performed during the second trimester?
a) Chorionic villus sampling (CVS)
b) Amniocentesis
c) Preimplantation genetic testing (PGT)
d) Blood glucose test
Answer: b) Amniocentesis
Rationale: Amniocentesis is typically performed between weeks 15 and 20 of pregnancy.
17. What is the purpose of preimplantation genetic testing (PGT)?
a) To diagnose maternal infections
b) To evaluate embryos for genetic abnormalities before implantation
c) To assess fetal lung maturity
d) To detect chromosomal abnormalities in the mother
Answer: b) To evaluate embryos for genetic abnormalities before implantation
Rationale: PGT is used to screen embryos for genetic disorders during in vitro fertilization.
Chromosomal Abnormalities
18. Which genetic disorder is characterized by a distinctive cat-like cry in infants?
a) Down syndrome
b) Cri du chat syndrome
c) Turner syndrome
d) Klinefelter syndrome
Answer: b) Cri du chat syndrome
Rationale: Cri du chat syndrome is caused by a deletion on chromosome 5 and is associated
with a high-pitched cry.
