Course Introduction
Pathophysiology Study Guide Questions
Pathophysiology explores the functional changes in the body resulting from disease processes. This course examines how alterations in normal physiological processes lead to the signs, symptoms, and progression of various health conditions. Students will gain a foundational understanding of the mechanisms behind cellular injury, inflammation, immune responses, and system-specific disorders. Emphasis is placed on the application of pathophysiological concepts to clinical situations, preparing students to better understand disease etiology, diagnosis, and treatment in healthcare settings.
Recommended Textbook Genetics and Genomics in Nursing and Health Care 2nd Edition by Theresa A. Beery
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20 Chapters
432 Verified Questions
432 Flashcards
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Page 2
Chapter 1: DNA Structure and Function
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Sample Questions
Q1) Which of these complementary base pairs form the strongest or "tightest" association?
A)Adenine and thymine
B)Cytosine and guanine
C)Guanine and thymine
D)Cytosine and adenine
Answer: B
Q2) What are the expected expressed blood types of children born to a mother who is B/O for blood type and a father who is A/B for blood type?
A)25% A, 25% B, 25% O, 25% AB
B)25% A, 50% B, 0% O, 25% AB
C)50% A, 25% B, 25% O, 0% AB
D)50% A, 25% B, 0% O, 25% AB
Answer: B
Q3) What is the purpose of phosphorous in a DNA strand?
A)Linking the nucleotides into a strand
B)Holding complementary strands together
C)Ensuring that a purine is always paired with a pyrimidine
D)Preventing the separation of double-stranded DNA into single-stranded DNA
Answer: A
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Chapter 2: Protein Synthesis
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Sample Questions
Q1) Which process occurs outside of the nucleus?
A)DNA transcription
B)RNA transcription
C)Splicing out of introns
D)Translation of mRNA
Answer: D
Q2) Which events, structures, or processes are likely to trigger transcription of the beta-globin gene?
A)Anemia and TATA boxes upstream from the beta-globin gene
B)Anemia and polyadenylation downstream from the beta-globin gene
C)Polycythemia and TATA boxes upstream from the beta-globin gene
D)Polycythemia and polyadenylation downstream from the beta-globin gene
Answer: A
Q3) Which factor has the greatest influence on protein tertiary structure?
A)The presence of a poly-A tail
B)The specific amino acids that are in close proximity to each other
C)Bond formation between amino acids that are distant from each other
D)The number and position of additional proteins needed to form the complex structure
Answer: C
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Page 4
Chapter 3: Genetic Influence on Cell Division, Differentiation,
and
Gametogenesis
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Sample Questions
Q1) Which mechanism allows cell differentiation in embryonic tissue?
A)Increased expression of oncogenes
B)Decreased expression of suppressor genes
C)Selected expression of individual structural genes
D)Enhanced expression of promitotic transcription factors
Answer: C
Q2) Which cell feature is common to normal human differentiated cells and to early embryonic human cells?
A)Growth by hypertrophy
B)Contact inhibition
C)Tight adhesion
D)Euploidy
Answer: D
Q3) Which response is the immediate and direct result of fertilization?
A)Gamete chromosome reduction to the haploid number
B)Rapid proliferation of acrosomal and coronal cells
C)Primary sex determination of the zygote
D)Nuclear condensation
Answer: C
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Chapter 4: Patterns of Inheritance
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Sample Questions
Q1) Which statement reflects the criterion for autosomal-dominant transmission of single-gene traits?
A)The risk for a person who is homozygous for the trait to transmit the trait to his or her children is 100% with each pregnancy.
B)The trait often remains unexpressed within a kindred for many generations until a change in environment promotes its expression.
C)Males in a kindred are more likely to express the trait when the mother has the trait, and females in a kindred are more likely to express the trait when the father has the trait.
D)Females in a kindred are more likely to express the trait when the mother has the trait, and males in a kindred are more likely to express the trait when the father has the trait.
Q2) Which person is an obligate carrier of an autosomal-recessive single-gene trait or disorder without expressing the trait or disorder?
A)The son of a man with classic hemophilia
B)The daughter of a woman with Marfan syndrome
C)The son of a man who expresses a widow's peak hairline
D)The daughter of a woman who expresses attached earlobes
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6
Chapter 5: Epigenetic Influences on Gene Expression
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Sample Questions
Q1) How is alcohol consumption thought to increase methylation in cancer suppressor genes to increase the risk for head and neck cancer?
A)Preventing DNA repair
B)Enhancing cell division
C)Acting as a methyl donor
D)Activating select oncogenes
Q2) How does histone modification alter gene expression?
A)Modified histones result in increased DNA methylation, which increases the transcription of genes in that area.
B)In areas where histones are modified, the DNA is more tightly wound, and genes are not transcribed.
C)Histone modification results in an increase in microRNA production, which inhibits gene expression by preventing translation.
D)Histone modification results in an increase in microRNA production, which promotes gene expression by enhancing translation.
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Chapter 6: Autosomal Inheritance and Disorders
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Sample Questions
Q1) Which description is the best example of "genomic imprinting"?
A)A child inherits a trait that his paternal grandfather expressed but that his father did not express.
B)Boys can inherit only masculine traits from their fathers because women do not have a Y chromosome.
C)There is a qualitative difference in some gene alleles based on whether they are inherited from the mother or the father.
D)When the number of sex chromosomes is greater than normal, the resulting individual is most often infertile.
Q2) Which statement about partial deletions and duplications of autosomes is true?
A)If one child in a family has the abnormality, the risk for recurrence is 50% with each pregnancy.
B)The aberration represents failure of chromosomal segregation during gametogenesis.
C)The underlying cause is random chromosome breakage and rearrangement.
D)The incidence increases with advancing maternal or paternal age.
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8
Chapter 7: Sex Chromosome and Mitochondrial Inheritance and Disorders
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Sample Questions
Q1) Which type of problem results from mutations in mitochondrial DNA (mtDNA)?
A)Reduced cellular energy
B)Balanced translocations
C)Excessive "crossing over"
D)Single-nucleotide polymorphisms
Q2) Which condition or health problem is more common in women who have an FMR1 mutation?
A)Emotional instability with inappropriate expression of anger
B)Patchy areas of decreased skin pigmentation
C)Progressive skeletal muscle weakness
D)Menopause before age 40 years
Q3) On which chromosome is the androgen receptor (AR) gene located?
A)1
B)21
C)X
D)Y
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Chapter 8: Family History and Pedigree Construction
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Sample Questions
Q1) When constructing a pedigree around a specific health problem, what is the minimal number of generations needed to accurately assess the presence or absence ofa genetic factor in disease development?
A)One
B)Two
C)Three
D)Four
Q2) What does a double horizontal line between a circle symbol and a square symbol as the only line directly connecting two individuals signify on a pedigree?
A)The individuals are parent and child.
B)The individuals are related by blood.
C)The individuals are brother and sister.
D)The individuals have mated without being married.
Q3) Which pair of relatives represents a first-degree relationship?
A)Grandfather and grandson
B)Aunt and nephew
C)Sister and brother
D)Two cousins
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10
Chapter 9: Congenital Anomalies, Basic Dysmorphology, and
Genetic Assessment
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Sample Questions
Q1) You are working in a clinic, and a 4-year-old child is brought in with a history of cleft palate repair. His parents say they want to have another child and ask youiftheir other children will have the same problem. They mention that Mom's uncle Bob had a cleft lip. What do you say?
A)"There is a 3% to 5% risk that your next child will be affected."
B)"Looking at your family history, I can tell that there is a 20% risk that your next child will be affected."
C)"Let's make an appointment with a genetic counselor who will help determine your next child's risk."
D)"You should have carrier testing to find out if your next child is at risk."
Q2) Which term is used to describe the condition of widely spaced eyes?
A)Hypertelorism
B)Hypotelorism
C)Hyperoculoci
D)Hypo-oculoci
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Page 11
Chapter 10: Enzyme and Collagen Disorders
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Sample Questions
Q1) Why does a person with Hurler syndrome have an enlarged abdomen?
A)The excess mucopolysaccharides accumulate inside the lysosomes within the liver cells.
B)The excess mucopolysaccharides accumulate inside the cells of the liver and the spleen.
C)The excess glycosaminoglycans weaken the muscles of the abdomen, and all contents move forward.
D)The excess glycosaminoglycans cause the person to develop type 2 diabetes, with greatly increased abdominal fat.
Q2) Which therapeutic option has been found beneficial for patients with Gaucher type 1 disease?
A)Daily ingestion of oral sapropterin hydrochloride (Kuvan)
B)Intravenous enzyme replacement with alpha-L iduronidase
C)Weekly phlebotomy with removal of excess red blood cells
D)Intravenous enzyme replacement with imiglucerase (Cerezyme)
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Chapter 11: Common Childhood-Onset Genetic Disorders
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Sample Questions
Q1) Zoe, a 20-year-old woman, shows signs of mild muscle weakness. She has two first cousins on her mother's side who died of Duchenne's muscular dystrophy (DMD).Whichexplanation regarding Zoe's situation is most likely?
A)Zoe is a heterozygote showing partial expression
B)Zoe and her cousins shared similar environmental risks.
C)The muscle weakness is related to Zoe's lack of exercise in her "girly-girl" lifestyle.
D)Zoe is homozygous for DMD, with a defective dystrophin gene inherited from both parents.
Q2) Which relative of a patient who has cystic fibrosis has the correct risk for being a cystic fibrosis carrier?
A)Sister 0%
B)Mother 50%
C)Father 100%
D)Brother 100%
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13
Chapter 12: Common Adult-Onset Disorders
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Sample Questions
Q1) Which genetic disorder is associated with an increased risk for type 2 diabetes?
A)Achondroplasia
B)Down syndrome
C)Huntington disease
D)Hereditary hemochromatosis
Q2) A fasting blood glucose sample indicates that your 24-year-old male patient has hyperglycemia that was not present during a test 6 weeks ago. What is the mostlikely cause of this?
A)Type 1 diabetes mellitus
B)Type 2 diabetes mellitus
C)Maturity-onset diabetes of the young (MODY)
D)Gestational diabetes mellitus
Q3) What is the inheritance pattern for -1 antitrypsin (ATT) deficiency?
A)Autosomal dominant
B)Autosomal recessive
C)Autosomal codominant
D)Sex-linked recessive
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14
Chapter 13: Cardiovascular Disorders
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Sample Questions
Q1) Why is determining the genetic contribution to the onset of stroke difficult?
A)Stroke classification and phenotype remain heterogeneous.
B)Comorbidities mask the symptoms and delay the diagnosis.
C)Environmental risk factors have equal contribution to the problem.
D)Often the person with a stroke cannot provide accurate family information.
Q2) What do the known monogenic disorders that result in the expression of hypertension have in common?
A)An error in the ability of vascular smooth muscle to contract
B)An error in the ability of vascular smooth muscle to relax
C)Excessive kidney reabsorption of sodium
D)Excessive kidney excretion of potassium
Q3) Which condition or factor for coronary artery disease (CAD) suggests a greater genetic contribution than environmental contribution to its development?
A)When a person develops CAD 5 years after quitting smoking
B)When CAD occurs in a person who has normal blood pressure
C)When CAD is diagnosed in a person who is younger than 50 years
D)When low-density lipoprotein levels can be reduced by dietary changes alone
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Page 15
Chapter 14: The Genetics of Cancer
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Sample Questions
Q1) Why are people who have poor DNA repair mechanisms at greater risk for cancer development?
A)Their cancers are usually resistant to chemotherapy.
B)They have sustained the initial "hit" in all cells and tissues.
C)Their somatic mutations are more likely to be permanent.
D)They have greater exposure to environmental carcinogens.
Q2) How are malignant tumors different from benign tumors?
A)Malignant tumors grow by expansion, and benign tumors grow by invasion.
B)Malignant tumors lose plasma membranes, and benign tumors continue to produce them.
C)Benign tumors retain parental cell functions, and malignant tumors lose parental cell functions.
D)Benign tumors have totally normal features, and malignant tumors have totally abnormal features.
Q3) Which type of body tissue has the highest risk for cancer development?
A)Bone tissue because its absorption of radiation is cumulative
B)Connective tissue that remains functional throughout life
C)Brain tissue because it does not respond well to injury
D)Any tissue that retains the ability to divide
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Page 16
Chapter 15: Genetic Contributions to Psychiatric and Behavioral Disorders
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Sample Questions
Q1) Which assessment finding in a 3-year-old child increases the suspicion for a possible diagnosis of autism spectrum disorder?
A)Language skills are delayed.
B)The child is very near-sighted.
C)Height is below the 5th percentile.
D)The child does not sit still during the assessment interview.
Q2) Which statement about attention deficit hyperactivity disorder (ADHD) is true?
A)The problem is more common among girls whose fathers also had the disorder.
B)By the time a person with ADHD reaches adulthood, all symptoms have resolved.
C)It is a complex disorder caused by gene variants along with environmental contributions.
D)Symptoms of the disorder are ameliorated when the person sleeps more soundly as a result of pharmacologic intervention.
Q3) What is meant by the phrase "behavioral genetics"?
A)Identification of the single gene that corresponds to a specific undesired behavior
B)An area of research aimed at controlling behavior by genetic manipulation
C)The study of the behavior of genes in diverse settings
D)The examination of gene variants that influence behaviors
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Chapter 16: Genetic and Genomic Testing
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Sample Questions
Q1) Which type of genetic testing examines a person's chromosomes for variations in number or structure?
A)Cytogenetic testing
B)Preimplantation testing
C)Predictive testing
D)Electropherogram testing
Q2) How is the polymerase chain reaction (PCR) helpful in the process of genetic testing?
A)Preserving genetic material within a sample so that more sophisticated tests can be performed as they become available with future technologic advancements
B)Separating exons from introns and establishing which DNA strand is the "sense" strand
C)Determining whether a small amount of DNA is paternal or maternal in origin
D)Increasing the amount of DNA being tested, thus promoting accuracy
Q3) Under which condition can preimplantation genetic testing be performed?
A)During in vitro fertilization
B)Between 4 to 6 weeks' gestation
C)When paternity is unknown
D)When an ultrasound indicates the fetus has a structural abnormality
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18
Chapter 17: Assessing Genomic Variation in Drug Response
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Sample Questions
Q1) Which processes of drug response are most subject to genetic variation?
A)Drug dissolution in body fluids and drug binding to plasma proteins
B)Rates of drug movement into and through the gastrointestinal tract
C)Drug activation or deactivation and duration of drug actions
D)Drug binding with receptors and drug blocking of receptors
Q2) Which statement about agonist and antagonist drugs is true?
A)Both drugs types must interact with receptors to produce their intended responses.
B)The primary target tissues for these types of drugs are invading bacteria and viruses.
C)Antagonists drugs produce only intended responses, and agonist drugs produce both intended responses and side effects.
D)These types of drugs are less likely to cause allergic responses than drugs that are neither agonists nor antagonists.
Q3) Which organ has the greatest concentration of cytochrome P (CYP) 450 enzymes?
A)Stomach
B)Kidney
C)Brain
D)Liver
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Chapter 18: Health Professionals and Genomic Care
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Q1) Which action reflects promotion of genomic care as part of comprehensive health care?
A)Calculating the odds ratios and recurrence risks of common complex health problems for all people
B)Ensuring that genomic issues potentially influencing a person's health are incorporated into routine care
C)Encouraging all people to undergo genetic testing as part of a proactive health screening and prevention program
D)Instructing patients who undergo genetic testing about their obligation to inform family members regarding test results
Q2) Which statement or criterion is a required component for certification as an Advanced-Practice Nurse in Genetics (APNG)?
A)A 2-year residency in clinical genetics
B)An earned PhD or DNP with coursework focusing on genetics
C)Completion of 500 hours of direct bedside care for patients with genetic disorders
D)Completion of a 50-case log describing the nurse's actions that reflect the standards of clinical genetic nursing practice
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Chapter
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Q1) Ascientist is working to develop a genetic test that will screen embryos so that only those producing tall children with beautiful features will be implanted.Whatarea of genetic work or studies does this example represent?
A)Eugenics
B)Cybernetics
C)Cytogenetics
D)Genetic imprinting
Q2) You are caring for a college professor who has been offered testing for her family's mutation in BRCA1. She expresses fear of genetic discrimination as a reason forrefusing genetic testing. What do you tell her?
A)"There is no need to be concerned about genetic discrimination."
B)"I appreciate your concern, but there is no way your insurance company or employer will ever be able to get your genetic testing results."
C)"There is now federal legislation banning genetic discrimination, and in addition, we will do everything we can to keep your results confidential."
D)"There have been no instances of documented genetic discrimination in insurance or employment. This concern is overblown."
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Page 21
Chapter 20: Genetic and Genomic Variation
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Sample Questions
Q1) What is the main purpose of population genetics?
A)Determining the factors that allow allelic frequencies to change over time
B)Determining the geographic origins of specific genetic-based disorders
C)Assessing the effects of assortive mating on natural selection and evolution
D)Assessing the differences between race and ethnicity for susceptibility and resistance to infectious diseases
Q2) What criteria must a population meet in order to stay in Hardy-Weinberg equilibrium?
A)Random mating, no migration, and no mutation
B)Founding commonalities and no haplotype differences
C)Assortative mating, migration, and frequent mutation
D)Limited procreation, no diet change
Q3) Why are people of Ashkenazi Jewish descent more likely to be carriers of the mutations that cause Tay-Sachs and Gaucher disease?
A)The environment of Eastern Europe increased their risk of developing a mutation.
B)The common diet shared by these people has reduced their genetic diversity.
C)Bottleneck effects have reduced the genetic diversity in this population.
D)Being heterozygous for these diseases allowed them to survive cholera.
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