Test Bank for Advanced Assessment Interpreting Findings and Formulating Differential Diagnoses, 4th Edition, Mary Jo Goolsby, Laurie Grubbs
Table of
... [Show More] Contents Chapter 1. Assessment and Clinical Decision-Making: Overview ............................. 1 Chapter 2. An Overview of Genetic Assessment ................................ ........... 5 Chapter 3. Skin ................................ ................................ .... 14 Chapter 4. Head, Face, and Neck ................................ ...................... 26 Chapter 5. The Eye ................................ ................................ . 34 Chapter 6. Ear, Nose, Mouth, and Throat ................................ ............... 44 Chapter 7. Cardiac and Peripheral Vascular Systems ................................ ..... 56 Chapter 8. Respiratory System ................................ ....................... 80 Chapter 9. Breasts ................................ ................................ .. 91 Chapter 10. Abdomen ................................ ............................... 99 Chapter 11. Genitourinary System ................................ ................... 117 Chapter 12. Male Reproductive System ................................ ............... 125 Chapter 13. Female Reproductive System ................................ ............. 135 Chapter 14. Musculoskeletal System ................................ ................. 156 Chapter 15. Neurological System ................................ .................... 171 Chapter 16. Nonspecific Complaints ................................ .................. 184 Chapter 17. Psychiatric Mental Health ................................ ................ 198 Chapter 18. Pediatric Patients ................................ ....................... 214 Chapter 19. Pregnant Patients ................................ ....................... 228 Chapter 20. Assessment of the Transgender or Gender Diverse Adult ...................... 248 Chapter 21. Older Patients ................................ .......................... 252 Chapter 22. Persons with Disabilities ................................ ................. 263
Chapter 1. Assessment and Clinical Decision-Making: Overview 1 | P a g eMultiple Choice
Identify the choice that best completes the statement or answers the question.
1.
A.
B.
C.
D.
2.
Which type of clinical decision-making is most reliable?
Intuitive
Analytical
Experiential
Augenblick
Which of the following is false? To obtain adequate history, health-
care providers must be:
A.
B.
C.
D.
3.
A.
B.
C.
D.
4.
Methodical and systematic
Attentive to the patient’s verbal and
nonverbal language
Able to accurately interpret the patient’s
responses
Adept at reading into the patient’s
statements
Essential parts of a health history include all of the following except:
Chief complaint
History of the present illness
Current vital signs
All of the above are essential history
components
Which of the following is false? While performing the
physical examination, the examiner must be able to:
A.
Differentiate between normal and
abnormal findings
B.
C.
D.
5.
diagnostic statistics:
A.
B.
C.
D.
6.
2 | P a g e
Recall knowledge of a range of conditions
and their associated signs and symptoms
Recognize how certain conditions affect
the response to other conditions
Foresee unpredictable findings
The following is the least reliable source of information for
Evidence-based investigations
Primary reports of research
Estimation based on a provider’s
experience
Published meta-analyses
The following can be used to assist in sound clinical decision-making:A.
Algorithm published in a peer-reviewed
journal article
B.
C.
D.
7.
A.
B.
C.
D.
8.
:
A.
B.
C.
D.
9.
A.
B.
C.
D.
Low percentage of healthy individuals
will show a normal result
High percentage of healthy individuals
will show a normal result
High percentage of individuals with a
disorder will show a normal result
Low percentage of individuals with a
disorder will show an abnormal result
A likelihood ratio above 1 indicates that a diagnostic test showing a:
Positive result is strongly associated with
the disease
Negative result is strongly associated with
absence of the disease
Positive result is weakly associated with
the disease
Negative result is weakly associated with
absence of the disease
10. Which of the following clinical reasoning tools is defined as evidence-
based resource based on mathematical modeling to express the likelihood of a
condition in select situations, settings, and/or patients?
A.
Clinical practice guideline
B.
C.
D.
Clinical decision rule
Clinical algorithm
Clinical recommendation
Chapter 1. Assessment and Clinical Decision-Making: Overview
3 | P a g e
Clinical practice guidelines
Evidence-based research
All of the above
If a diagnostic study has high sensitivity, this indicates a:
High percentage of persons with the given
condition will have an abnormal result
Low percentage of persons with the given
condition will have an abnormal result
Low likelihood of normal result in
persons without a given condition
None of the above
If a diagnostic study has high specificity, this indicates aAnswer Section
MULTIPLE CHOICE
1.
ANS: B
Croskerry (2009) describes two major types of clinical diagnostic decision-making:
intuitive and analytical. Intuitive decision-making (similar to Augenblink decision-
making) is based on the experience and intuition of the clinician and is less reliable
and paired with fairly common errors. In contrast, analytical decision-making is
based on careful consideration and has greater reliability with rare errors.
PTS: 1
2.
ANS: D
To obtain adequate history, providers must be well organized, attentive to the
patient’s verbal and nonverbal language, and able to accurately interpret the patient’s
responses to questions. Rather than reading into the patient’s statements, they clarify
any areas of uncertainty.
PTS: 1
3.
ANS: C
Vital signs are part of the physical examination portion of patient assessment, not
part of the health history.
PTS: 1
4.
ANS: D
While performing the physical examination, the examiner must be able to differentiate
between normal and abnormal findings, recall knowledge of a range of conditions,
including their associated signs and symptoms, recognize how certain conditions
affect the response to other conditions, and distinguish the relevance of varied
abnormal findings.
PTS: 1
5.
ANS: C
Sources for diagnostic statistics include textbooks, primary reports of research, and
published meta-analyses. Another source of statistics, the one that has been most
widely used and available for application to the reasoning process, is the estimation
based on a provider’s experience, although these are rarely accurate. Over the past
decade, the availability of evidence on which to base clinical reasoning is improving,
and there is an increasing expectation that clinical reasoning be based on scientific
evidence. Evidence- based statistics are also increasingly being used to develop
resources to facilitate clinical decision-making.
PTS: 1
6.
ANS: D
To assist in clinical decision-making, a number of evidence-based resources have
been developed to assist the clinician. Resources, such as algorithms and clinical
practice guidelines, assist in clinical reasoning when properly applied.
4 | P a g ePTS: 1
7.
ANS: A
The sensitivity of a diagnostic study is the percentage of individuals with the target
condition who show an abnormal, or positive, result. A high sensitivity indicates that
a greater percentage of persons with the given condition will have an abnormal
result.
PTS: 1
8.
ANS: B
The specificity of a diagnostic study is the percentage of normal, healthy individuals
who have a normal result. The greater the specificity, the greater the percentage of
individuals who will have negative, or normal, results if they do not have the target
condition.
PTS: 1
9.
ANS: A
The likelihood ratio is the probability that a positive test result will be associated with
a person who has the target condition and a negative result will be associated with a
healthy person. A likelihood ratio above 1 indicates that a positive result is associated
with the disease; a likelihood ratio less than 1 indicates that a negative result is
associated with an absence of the disease.
PTS: 1
10.
ANS: B
Clinical decision (or prediction) rules provide another support for clinical reasoning.
Clinical decision rules are evidence-based resources that provide probabilistic
statements regarding the likelihood that a condition exists if certain variables are met
with regard to the prognosis of patients with specific findings. Decision rules use
mathematical models and are specific to certain situations, settings, and/or patient
characteristics.
PTS: 1
Chapter 2. An Overview of Genetic Assessment
Multiple Choice
Identify the choice that best completes the statement or answers the question.
1.
The first step in the genomic assessment of a patient is
obtaining information regarding:
A.
B.
C.
D.
2.
Family history
Environmental exposures
Lifestyle and behaviors
Current medications
An affected individual who manifests symptoms of a particular
condition through whom a family with a genetic disorder is ascertained is called a(n):
A.
Consultand
5 | P a g eB.
C.
D.
Consulband
Index patient
Proband
3.
A.
B.
C.
D.
4.
in a pedigree, draw:
A.
B.
C.
D.
5.
A.
B.
C.
D.
6.
is common to see:
An autosomal dominant disorder involves the:
X chromosome
Y chromosome
Mitochondrial DNA
Non-sex chromosomes
To illustrate a union between two second cousin family members
Arrows pointing to the male and female
Brackets around the male and female
Double horizontal lines between the male
and female
Circles around the male and female
To illustrate two family members in an adoptive relationship in a pedigree:
Arrows are drawn pointing to the male
and female
Brackets are drawn around the male and
female
Double horizontal lines are drawn
between the male and female
Circles are drawn around the male and
female
When analyzing the pedigree for autosomal dominant disorders, it
6 | P a g eA.
B.
C.
Several generations of affected members
Many consanguineous relationships
More members of the maternal lineage
affected than paternal
D.
7.
A.
B.
C.
D.
8.
A.
B.
C.
D.
9.
More members of the paternal lineage
affected than maternal
In autosomal recessive (AR) disorders, individuals need:
Only one mutated gene on the sex
chromosomes to acquire the disease
Only one mutated gene to acquire the
disease
Two mutated genes to acquire the disease
Two mutated genes to become carriers
In autosomal recessive disorders, carriers have:
Two mutated genes; one from each parent
that cause disease
A mutation on a sex chromosome that
causes a disease
A single gene mutation that causes the
disease
One copy of a gene mutation but not the
disease
With an autosomal recessive disorder, it is important that parents
understand that if they both carry a mutation, the following are the risks to each of
their offspring (each pregnancy):
A.
50% chance that offspring will carry the
disease
B.
C.
D.
10.
A.
B.
C.
D.
11.
7 | P a g e
10% chance of offspring affected by
disease
25% chance children will carry the
disease
10% chance children will be disease free
A woman with an X-linked dominant disorder will:
Not be affected by the disorder herself
Transmit the disorder to 50 % of her
offspring (male or female)
Not transmit the disorder to her
daughters
Transmit the disorder to only her
daughters
In creating your female patient’s pedigree, you note that she and both ofher sisters were affected by the same genetic disorder. Although neither of her parents
had
indications of the disorder, her paternal grandmother and her paternal grandmother’s
two sisters were affected by the same condition. This pattern suggests:
A.
Autosomal dominant disorder
B.
C.
D.
12.
A.
B.
C.
D.
Chromosomal disorder
Mitochondrial DNA disorder
X-linked dominant disorder
A woman affected with an X-linked recessive disorder:
Has one X chromosome affected by the
mutation
Will transmit the disorder to all of her
children
Will transmit the disorder to all of her
sons
Will not transmit the mutation to any of
her daughters
A.
B.
C.
D.
14.
in that:
A.
B.
C.
D.
in offspring?
A.
B.
C.
D.
16.
gene mutation?
8 | P a g e
13. Which of the following are found in an individual with aneuploidy?
An abnormal number of chromosomes
An X-linked disorder
Select cells containing abnormal-
appearing chromosomes
An autosomal recessive disorder
The pedigree of a family with a mitochondrial DNA disorder is unique
None of the female offspring will have the
disease
All offspring from an affected female will
have disease
None of the offspring of an affected
female will have the disease
All the offspring from an affected male
will have disease
15. Which population is at highest risk for the occurrence of aneuploidy
Mothers younger than 18
Fathers younger than 18
Mothers over age 35
Fathers over age 35
Approximately what percentage of cancers is due to a single-A.
50% to 70%
9 | P a g eB.
C.
D.
30% to 40%
20% to 25%
5% to 10%
17.
A.
B.
C.
D.
18.
A.
B.
C.
D.
According to the Genetic Information Nondiscrimination Act (GINA):
NPs should keep all genetic information
of patients confidential
NPs must obtain informed consent prior
to
genetic testing of all patients
Employers cannot inquire about an
employee’s genetic information
All of the above
The leading causes of death in the United States are due to:
Multifactorial inheritance
Single gene mutations
X-linked disorders
Aneuploidy
19. Which of the following would be considered a “red flag” that
requires more investigation in a patient assessment?
A.
Colon cancer in family member at age 70
B.
C.
D.
this is due to:
A.
B.
C.
D.
21.
Breast cancer in family member at age 75
Myocardial infarction in family member
at age 35
All of the above
20. When patients express variable forms of the same hereditary disorder,
Penetrance
Aneuploidy
De novo mutation
Sporadic inheritance
Your 2-year-old patient shows facial features, such as epicanthal folds,
up- slanted palpebral fissures, single transverse palmar crease, and a low nasal bridge.
These are referred to as:
A.
Variable expressivity related to inherited
disease
B.
C.
D.
22.
10 | P a g e
Dysmorphic features related to genetic
disease
De novo mutations of genetic disease
Different penetrant signs of genetic
disease
In order to provide a comprehensive genetic history of a patient, the NPshould:
A.
Ask patients to complete a family history
worksheet
B.
C.
D.
Seek out pathology reports related to the
patient’s disorder
Interview family members regarding
genetic disorders
All of the above
Chapter 2. An Overview of Genetic Assessment
Answer Section
MULTIPLE CHOICE
1.
ANS: A
A critical first step in genomic assessment, including assessment of risk, is the use of
family history. Family history is considered the first genetic screen (Berry & Shooner
2004) and is a critical component of care because it reflects shared genetic
susceptibilities, shared environment, and common behaviors (Yoon, Scheuner, &
Khoury 2003).
PTS: 1
2.
ANS: D
A proband is defined as the affected individual who manifests symptoms of a
particular condition through whom a family with a genetic disorder is ascertained
(Pagon et al.
1993–2013). The proband is the affected individual that brings the family to medical
attention.
PTS: 1
3.
ANS: D
Autosomal dominant (AD) inheritance is a result of a gene mutation in one of the
22 autosomes.
PTS: 1
4.
ANS: C
A consanguineous family is related by descent from a common ancestry and is defined
as a “union between two individuals who are related as second cousins or closer”
(Hamamy 2012). Consanguinity, if present in the family history, is portrayed using two
horizontal lines to establish the relationship between the male and female partners.
PTS: 1
5.
ANS: B
For adopted members of the family, use brackets as the appropriate standardized pedigree
symbol ([e.g., brackets]).
PTS: 1
6.
ANS: A
11 | P a g ePedigrees associated with autosomal dominant (AD) disorders typically reveal
multiple affected family members with the disease or syndrome. When analyzing the
pedigree for AD disorders or syndromes, it is common to see a “vertical” pattern
denoting several generations of affected members.
PTS: 1
7.
ANS: C
In autosomal recessive (AR) disorders, the offspring inherits the condition by
receiving one copy of the gene mutation from each of the parents. Autosomal
recessive disorders must be inherited through both parents (Nussbaum et al. 2007).
Individuals who have an AR disorder have two mutated genes, one on each locus of
the chromosome. Parents of an affected person are called carriers because each
carries one copy of the mutation on one chromosome and a normal gene on the other
chromosome. Carriers typically are not affected by the disease.
PTS: 1
8.
ANS: D
Individuals who have an AR disorder have two mutated genes, one on each allele of
the chromosome. Parents of an affected person are called carriers because each
parent carries one copy of the mutation on one chromosome and a normal gene on the
other chromosome. Carriers typically are not affected by the disease. In pedigrees with
an AR inheritance patterns, males and females will be equally affected because the
gene mutation is on an autosome.
PTS: 1
9.
ANS: A
It is important that parents understand that if they both carry a mutation, the risk to
each of their offspring (each pregnancy) is an independent event: 25% disease free,
25% affected, and 50% carrier.
PTS: 1
10.
ANS: B
Everyone born with an X-linked dominant disorder will be affected with the disease.
Transmission of the disorder to the next generation varies by gender, however. A
woman will transmit the mutation to 50% of all her offspring (male or female).
PTS: 1
11.
ANS: D
A man with an X-linked dominant disorder will transmit the mutation to 100% of his
daughters (they receive his X chromosome) and none of his sons (they receive his Y
chromosome). The pedigree of a family with an X-linked dominant disorder would
reveal all the daughters and none of the sons affected with the disorder if the father has
an X- linked disorder.
PTS: 1
12.
ANS: C
An X-linked recessive disorder means that in a woman, both X chromosomes must
have the mutation if she is to be affected. Because males have only one copy of the X
12 | P a g echromosome, they will be affected if their X chromosome carries the mutation.
PTS: 1
13.
ANS: A
An individual with an abnormal number of chromosomes has a condition called
aneuploidy, which is frequently associated with mental problems or physical
problems or both (Jorde, Carey, & Bamshad 2010; Nussbaum et al. 2007).
PTS: 1
14.
ANS: B
Mitochondrial DNA is inherited from the ovum and, therefore, from the mother.
The pedigree of a family with a mitochondrial DNA disorder is unique in that all
offspring (regardless of gender) of an affected female will have the disease, and
none of the offspring from an affected male will have the disease.
PTS: 1
15.
ANS: C
Some individuals or couples have unique identifiable risks that should be discussed
prior to conception whenever possible. For example, women who will be 35 years of
age or older at delivery (advanced maternal age) are at increased risk for aneuploidy.
PTS: 1
16.
ANS: D
The majority of cancers are sporadic or multifactorial due to a combination of genetic
and environmental factors; however, approximately 5% to 10% of all cancers are due to
a single-gene mutation (Garber & Offit 2005).
PTS: 1
17.
ANS: D
On May 21, 2008, President George W. Bush signed the Genetic Information
Nondiscrimination Act (GINA) to protect Americans against discrimination based
upon their genetic information when it comes to health insurance and employment,
paving the way for patient personalized genetic medicine without fear of
discrimination (National Human Genome Research Institute 2012).
PTS: 1
18.
ANS: A
Most disease-causing conditions are not due to a single-gene disorder but are due to
multifactorial inheritance, a result of genomics and environmental or behavioral
influences. In fact, the leading causes of mortality in the United States—heart disease,
cerebrovascular disease, diabetes, and cancer—are all multifactorial. Most congenital
malformation, hypertension, arthritis, asthma, obesity, epilepsy, Alzheimer’s, and
mental health disorders are also multifactorial.
PTS: 1
19.
ANS: C
Early onset cancer syndromes, heart disease, or dementia are red flags that
warrant further investigation regarding hereditary disorders.
13 | P a g ePTS: 1 20. ANS: A
Some disorders have a range of expression from mild to severe. This variability is referred to as the penetrance of genetic disease. For example, patients with neurofibromatosis (NF1), an AD disorder of the nervous system, may manifest with many forms of the disease. For instance, some patients with NF1 may have mild symptoms, like café-au-lait spots or freckling on the axillary or skin, while others may have life- threatening spinal cord tumors or malignancy (Jorde, Carey, & Bamshad 2010; Nussbaum et al. 2007).
PTS: 1 21. ANS: B
Assessing for dysmorphic features may enable identification of certain syndromes or genetic or chromosomal disorders (Jorde, Carey, & Bamshad 2010; Prichard & Korf 2008). Dysmorphology is defined as “the study of abnormal physical development” (Jorde, Carey, & Bamshad 2010, 302).
PTS: 1 22. ANS: D
Asking the patient to complete a family history worksheet prior to the appointment saves time in the visit while offering the patient an opportunity to contribute to the collection of an accurate family history. Reviewing the family information can also help establish family rapport while verifying medical conditions in individual family members. If a hereditary condition is being considered but family medical information is unclear or unknown, requesting medical records and pathology or autopsy reports may be warranted. [Show Less]