TEST BANK FOR Advanced Assessment Interpreting
Findings and Formulating Differential Diagnoses
4th Edition Goolsby Chapters 1 - 22 | Complete
, TABLE OF CONTENTS
Chapter 1. Assessment and Clinical Decision Making: An Overview
Chapter 2. Genomic Assessment: Interpreting Findings and Formulating Differential Diagnoses
Chapter 3. Skin
Chapter 4. Head, Face, and Neck
Chapter 5. The Eye
Chapter 6. Ear, Nose, Mouth, and Throat
Chapter 7. Cardiac and Peripheral Vascular Systems
Chapter 8. Respiratory System
Chapter 9. Breasts
Chapter 10. Abdomen
Chapter 11. Genitourinary System
Chapter 12. Male Reproductive System
Chapter 13. Female Reproductive System
Chapter 14. Musculoskeletal System
Chapter 15. Neurological System
Chapter 16. Nonspecific Complaints
Chapter 17. Psychiatric Mental Health
Chapter 18. Pediatric Patients
Chapter 19. Pregnant Patients
Chapter 20. Assessment of the Transgender or Gender Diverse Adult
Chapter 21. Older Patients
Chapter 22. Persons With Disabilities
, Chapter 1. Assessment and Clinical Decision Making: An Overview
Multiple Choice
Identify the choice that best completes the statement or answers the question.
1. Which type of clinical decision-making is most reliable?
A. Intuitive
B. Analytical
C. Experiential
D. Augenblick
2. Which of the following is false? To obtain adequate history, health-care providers must be:
A. Methodical and systematic
B. Attentive to the patient’s verbal and nonverbal language
C. Able to accurately interpret the patient’s responses
D. Adept at reading into the patient’s statements
3. Essential parts of a health history include all of the following except:
A. Chief complaint
B. History of the present illness
C. Current vital signs
D. All of the above are essential history components
4. 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. Recall knowledge of a range of conditions and their associated signs and symptoms
C. Recognize how certain conditions affect the response to other conditions
D. Foresee unpredictable findings
5. The following is the least reliable source of information for diagnostic statistics:
A. Evidence-based investigations
B. Primary reports of research
C. Estimation based on a provider’s experience
D. Published meta-analyses
6. The following can be used to assist in sound clinical decision-making:
A. Algorithm published in a peer-reviewed journal article
B. Clinical practice guidelines
C. Evidence-based research
D. All of the above
7. If a diagnostic study has high sensitivity, this indicates a:
A. High percentage of persons with the given condition will have an abnormal result
B. Low percentage of persons with the given condition will have an abnormal result
C. Low likelihood of normal result in persons without a given condition
D. None of the above
8. If a diagnostic study has high specificity, this indicates a:
A. Low percentage of healthy individuals will show a normal result
B. High percentage of healthy individuals will show a normal result
C. High percentage of individuals with a disorder will show a normal result
D. Low percentage of individuals with a disorder will show an abnormal result
9. A likelihood ratio above 1 indicates that a diagnostic test showing a:
A. Positive result is strongly associated with the disease
B. Negative result is strongly associated with absence of the disease
C. Positive result is weakly associated with the disease
D. 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. Clinical decision rule
C. Clinical algorithm
Chapter 1: Clinical reasoning, differential diagnosis, evidence-based practice, and symptom ana
Answer 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.
PTS: 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 rdecision r(or rprediction) rrules rprovide ranother rsupport rfor rclinical rreasoning. rClinical rdecision rrules rare
revidence-basedrresources rthat rprovide rprobabilistic rstatements rregarding rthe rlikelihood rthat ra rcondition rexists rif rcertain
rvariables rare rmet rwith rregard rto rthe rprognosis rof rpatients rwith rspecific rfindings. rDecision rrules ruse rmathematical
rmodels rand rare rspecific rto rcertain rsituations, rsettings, rand/or r patient rcharacteristics.
PTS: 1
,Chapter r2. rEvidence-based rhealth rscreening
Multiple r Choice
Identify rthe rchoice rthat rbest rcompletes rthe rstatement ror ranswers rthe rquestion.
r 1. The rfirst rstep rin rthe rgenomic rassessment rof ra rpatient ris robtaining rinformation rregarding:
A. Family rhistory
B. Environmental rexposures
C. Lifestyle rand rbehaviors
D. Current rmedications
r 2. An raffected rindividual rwho rmanifests rsymptoms rof ra rparticular rcondition rthrough rwhom ra rfamily rwith ra rgenetic
disorder ris rascertained ris rcalled ra(n):
A. Consultand
B. Consulband
C. Index rpatient
D. Proband
r 3. An rautosomal rdominant rdisorder rinvolves rthe:
A. X r chromosome
B. Y r chromosome
C. Mitochondrial rDNA
D. Non-sex rchromosomes
r 4. To rillustrate ra runion rbetween rtwo rsecond r cousin rfamily rmembers rin ra rpedigree, rdraw:
A. Arrows rpointing rto rthe rmale rand rfemale
B. Brackets raround rthe rmale rand rfemale
C. Double rhorizontal rlines rbetween rthe rmale rand
rfemale
D. Circles raround rthe rmale rand rfemale
r 5. To rillustrate rtwo rfamily rmembers rin ran radoptive rrelationship rin ra rpedigree:
A. Arrows rare rdrawn rpointing rto rthe rmale rand rfemale
B. Brackets rare rdrawn raround rthe rmale rand rfemale
C. Double rhorizontal rlines rare rdrawn rbetween rthe rmale rand
rfemale
D. Circles rare rdrawn raround rthe rmale rand rfemale
r 6. When ranalyzing rthe rpedigree rfor rautosomal rdominant rdisorders, rit ris rcommon rto rsee:
A. Several rgenerations rof raffected r members
B. Many rconsanguineous rrelationships
C. More rmembers rof rthe rmaternal rlineage raffected rthan
rpaternal
D. More rmembers rof rthe rpaternal rlineage raffected rthan
rmaternal
r 7. In rautosomal rrecessive r(AR) rdisorders, rindividuals rneed:
A. Only rone rmutated rgene ron rthe rsex rchromosomes rto racquire rthe
rdisease
B. Only rone rmutated rgene rto racquire rthe rdisease
C. Two rmutated rgenes rto racquire rthe rdisease
D. Two rmutated rgenes rto rbecome rcarriers
r 8. In rautosomal rrecessive rdisorders, rcarriers rhave:
A. Two rmutated rgenes; rone rfrom reach rparent rthat rcause
rdisease
B. A rmutation ron ra rsex rchromosome rthat rcauses ra rdisease
C. A rsingle rgene rmutation rthat rcauses rthe rdisease
D. One rcopy rof ra rgene rmutation rbut rnot rthe rdisease
r 9. With ran rautosomal rrecessive rdisorder, rit ris rimportant rthat rparents runderstand rthat rif rthey rboth rcarry ra rmutation, rthe
following rare rthe rrisks rto reach rof rtheir roffspring r(each rpregnancy):
A. 50% rchance rthat roffspring rwill r carry rthe
rdisease
B. 10% rchance rof roffspring raffected rby rdisease
, C. 25% rchance rchildren rwill rcarry rthe rdisease
D. 10% rchance rchildren rwill rbe rdisease rfree
r 10. A rwoman rwith ran rX-linked rdominant rdisorder rwill:
A. Not rbe raffected rby rthe rdisorder rherself
B. Transmit rthe rdisorder rto r50 r% rof rher roffspring r(male ror
rfemale)
C. Not rtransmit rthe rdisorder rto rher rdaughters
D. Transmit rthe rdisorder rto ronly rher rdaughters
r 11. In rcreating ryour rfemale rpatient’s rpedigree, ryou rnote rthat rshe rand rboth rof rher rsisters rwere raffected rby rthe rsame rgenetic
disorder. rAlthough rneither rof rher rparents rhad rindications rof rthe rdisorder, rher rpaternal rgrandmother rand rher
rpaternalrgrandmother’s rtwo rsisters r were raffected rby rthe rsame rcondition. rThis rpattern rsuggests:
A. Autosomal rdominant rdisorder
B. Chromosomal rdisorder
C. Mitochondrial rDNA rdisorder
D. X-linked rdominant rdisorder
r 12. A rwoman raffected r with ran rX-linked rrecessive rdisorder:
A. Has rone rX rchromosome raffected rby rthe r mutation
B. Will rtransmit rthe rdisorder rto rall rof rher rchildren
C. Will rtransmit rthe rdisorder rto rall rof rher rsons
D. Will rnot rtransmit rthe rmutation rto rany rof rher
rdaughters
r 13. Which rof rthe rfollowing rare rfound rin ran rindividual rwith raneuploidy?
A. An rabnormal rnumber rof rchromosomes
B. An rX-linked rdisorder
C. Select rcells rcontaining rabnormal-appearing rchromosomes
D. An rautosomal rrecessive rdisorder
r 14. The rpedigree rof ra rfamily rwith ra rmitochondrial r DNA rdisorder ris runique rin rthat:
A. None rof rthe rfemale roffspring rwill rhave rthe rdisease
B. All roffspring rfrom ran raffected rfemale rwill rhave rdisease
C. None rof rthe roffspring rof ran raffected rfemale rwill r have rthe
rdisease
D. All rthe roffspring rfrom ran raffected rmale rwill rhave rdisease
r 15. Which rpopulation ris rat rhighest rrisk rfor rthe roccurrence rof raneuploidy rin roffspring?
A. Mothers ryounger rthan
r18
B. Fathers ryounger rthan r18
C. Mothers rover rage r35
D. Fathers rover rage r35
r 16. Approximately rwhat rpercentage rof rcancers ris rdue rto ra rsingle-gene rmutation?
A. 50% rto
r70%
B. 30% rto
r40%
C. 20% rto
r25%
D. 5% rto r10%
r 17. According rto rthe rGenetic rInformation rNondiscrimination rAct r (GINA):
A. NPs rshould rkeep rall rgenetic rinformation rof rpatients rconfidential
B. NPs rmust robtain rinformed rconsent rprior rto rgenetic rtesting rof rall
rpatients
C. Employers rcannot rinquire rabout ran remployee’s rgenetic rinformation
D. All rof rthe rabove
r 18. The rleading rcauses rof rdeath rin rthe rUnited rStates rare rdue rto:
A. Multifactorial rinheritance
B. Single rgene rmutations
C. X-linked rdisorders
D. Aneuploidy
r 19. Which rof rthe rfollowing rwould rbe rconsidered ra r“red rflag” rthat rrequires rmore rinvestigation rin ra rpatient rassessment?
A. Colon rcancer rin rfamily rmember rat rage r70
, B. Breast rcancer rin rfamily rmember rat rage r75
C. Myocardial rinfarction rin r family rmember rat rage
r35
D. All rof rthe rabove
r 20. When rpatients rexpress rvariable rforms rof rthe rsame rhereditary rdisorder, rthis ris rdue rto:
A. Penetrance
B. Aneuploidy
C. De rnovo rmutation
D. Sporadic rinheritance
r 21. Your r2-year-old rpatient rshows rfacial rfeatures, rsuch ras repicanthal rfolds, rup-slanted rpalpebral rfissures, rsingle rtransverse
palmar rcrease, rand ra rlow rnasal rbridge. rThese rare rreferred rto ras:
A. Variable rexpressivity rrelated rto rinherited
rdisease
B. Dysmorphic rfeatures rrelated rto rgenetic rdisease
C. De rnovo rmutations rof rgenetic rdisease
D. Different rpenetrant rsigns rof rgenetic rdisease
r 22. In rorder rto rprovide ra rcomprehensive rgenetic rhistory rof ra rpatient, rthe rNP rshould:
A. Ask rpatients rto rcomplete ra rfamily rhistory rworksheet
B. Seek rout rpathology rreports rrelated rto rthe rpatient’s
rdisorder
C. Interview rfamily rmembers rregarding rgenetic rdisorders
D. All rof rthe rabove
1. 2. r Evidence-based rhealth rscreening
Answer rSection
MULTIPLE rCHOICE
1. ANS: A
A rcritical rfirst rstep rin rgenomic rassessment, rincluding rassessment rof rrisk, ris rthe ruse rof rfamily rhistory. rFamily rhistory ris
rconsideredrthe rfirst rgenetic rscreen r(Berry r& rShooner r2004) rand ris ra rcritical rcomponent rof rcare rbecause rit rreflects
rshared rgenetic rsusceptibilities, rshared renvironment, rand rcommon rbehaviors r(Yoon, rScheuner, r & rKhoury r2003).
PTS: 1
2. ANS: D
A rproband ris rdefined ras rthe raffected rindividual r who rmanifests rsymptoms rof ra rparticular r condition rthrough r whom ra
rfamily r with ra rgenetic rdisorder ris rascertained r(Pagon ret ral. r1993–2013). rThe rproband ris rthe raffected r individual rthat
rbrings rthe rfamily rto rmedicalrattention.
PTS: 1
3. ANS: D
Autosomal rdominant r(AD) rinheritance ris ra rresult rof ra rgene rmutation rin rone rof rthe r22 rautosomes.
PTS: 1
4. ANS: C
A rconsanguineous rfamily ris rrelated rby rdescent rfrom ra rcommon rancestry rand ris rdefined ras ra r“union rbetween rtwo
rindividuals rwhorare rrelated ras rsecond rcousins ror rcloser” r(Hamamy r2012). rConsanguinity, rif rpresent rin rthe rfamily rhistory,
ris rportrayed rusing rtwo rhorizontal rlines rto restablish rthe rrelationship rbetween rthe rmale rand rfemale rpartners.
PTS: 1
5. ANS: B
For radopted rmembers rof rthe rfamily, ruse rbrackets ras rthe rappropriate rstandardized rpedigree rsymbol r ([e.g., rbrackets]).
PTS: 1
6. ANS: A
, Pedigrees rassociated r with rautosomal rdominant r(AD) rdisorders rtypically rreveal r multiple raffected rfamily rmembers r with rthe
rdiseaseror rsyndrome. rWhen ranalyzing rthe rpedigree rfor rAD rdisorders ror rsyndromes, rit ris rcommon rto rsee ra r“vertical”
rpattern rdenoting rseveral r generations rof raffected rmembers.
PTS: 1
7. ANS: C
In rautosomal rrecessive r(AR) rdisorders, rthe roffspring rinherits rthe rcondition rby rreceiving rone rcopy rof rthe rgene rmutation
rfrom reachrof rthe rparents. rAutosomal rrecessive rdisorders rmust rbe rinherited rthrough rboth rparents r(Nussbaum ret ral. r2007).
rIndividuals rwho rhave ran rAR rdisorder rhave rtwo rmutated rgenes, rone ron reach rlocus rof rthe rchromosome. rParents rof ran
raffected rperson rare rcalled rcarriers rbecause reach rcarries rone rcopy rof rthe rmutation ron rone rchromosome rand ra rnormal rgene
ron rthe rother rchromosome. rCarriers rtypically rare rnot r affected rby rthe rdisease.
PTS: 1
8. ANS: D
Individuals rwho rhave ran rAR rdisorder rhave rtwo rmutated rgenes, rone ron reach rallele rof rthe rchromosome. rParents rof
ran raffected rperson rare rcalled rcarriers rbecause reach rparent rcarries rone r copy rof rthe rmutation ron rone rchromosome
rand ra rnormal rgene ron rtherother rchromosome. rCarriers rtypically rare rnot raffected rby rthe rdisease. rIn rpedigrees rwith ran
rAR rinheritance rpatterns, rmales randrfemales rwill rbe requally raffected r because rthe rgene rmutation r is ron ran rautosome.
PTS: 1
9. ANS: A
It ris rimportant rthat rparents runderstand rthat rif rthey rboth rcarry ra rmutation, rthe rrisk rto reach rof rtheir roffspring r(each
rpregnancy) ris ranrindependent revent: r25% rdisease rfree, r25% raffected, rand r50% r carrier.
PTS: 1
10. ANS: B
Everyone rborn rwith ran rX-linked rdominant rdisorder rwill rbe raffected r with rthe rdisease. rTransmission rof rthe rdisorder rto
rthe rnextrgeneration rvaries rby rgender, rhowever. r A rwoman r will rtransmit rthe rmutation rto r50% rof rall rher roffspring r(male ror
r female).
PTS: 1
11. ANS: D
A rman r with ran rX-linked rdominant rdisorder rwill rtransmit rthe rmutation rto r100% rof rhis rdaughters r(they rreceive rhis rX
rchromosome)rand rnone rof rhis rsons r(they rreceive rhis rY rchromosome). rThe rpedigree rof ra rfamily r with ran rX-linked
rdominant rdisorder rwould rreveal rall rthe rdaughters rand rnone rof rthe rsons raffected r with rthe rdisorder rif rthe rfather rhas ran rX-
linked rdisorder.
PTS: 1
12. ANS: C
An rX-linked rrecessive rdisorder rmeans rthat rin ra rwoman, rboth rX rchromosomes rmust rhave rthe rmutation rif rshe ris rto rbe
raffected.rBecause rmales rhave ronly rone rcopy rof rthe rX rchromosome, r they rwill rbe raffected rif rtheir rX rchromosome r carries
rthe rmutation.
PTS: 1
13. ANS: A
An rindividual rwith ran rabnormal rnumber rof rchromosomes rhas ra rcondition rcalled raneuploidy, rwhich ris rfrequently
rassociated rwithrmental rproblems ror rphysical r problems ror rboth r(Jorde, rCarey, r & rBamshad r2010; rNussbaum ret ral. r2007).
PTS: 1
14. ANS: B
Mitochondrial rDNA ris rinherited rfrom rthe rovum rand, rtherefore, rfrom rthe rmother. rThe rpedigree rof ra rfamily r with ra
rmitochondrialrDNA rdisorder ris runique rin rthat rall roffspring r(regardless rof rgender) rof ran raffected rfemale rwill rhave rthe
rdisease, rand rnone rof rthe roffspring rfrom ran raffected r male rwill r have rthe rdisease.
PTS: 1
15. ANS: C
Some rindividuals ror rcouples rhave runique ridentifiable rrisks rthat rshould rbe rdiscussed rprior rto rconception r whenever rpossible.
rForrexample, r women rwho rwill rbe r35 ryears rof rage ror rolder rat rdelivery r(advanced r maternal rage) rare rat rincreased rrisk rfor
raneuploidy.
PTS: 1
16. ANS: D
The rmajority rof rcancers rare rsporadic ror rmultifactorial rdue rto ra rcombination rof rgenetic rand renvironmental rfactors;
rhowever,rapproximately r5% rto r10% rof rall rcancers rare rdue rto ra rsingle-gene r mutation r(Garber r& rOffit r2005).
Findings and Formulating Differential Diagnoses
4th Edition Goolsby Chapters 1 - 22 | Complete
, TABLE OF CONTENTS
Chapter 1. Assessment and Clinical Decision Making: An Overview
Chapter 2. Genomic Assessment: Interpreting Findings and Formulating Differential Diagnoses
Chapter 3. Skin
Chapter 4. Head, Face, and Neck
Chapter 5. The Eye
Chapter 6. Ear, Nose, Mouth, and Throat
Chapter 7. Cardiac and Peripheral Vascular Systems
Chapter 8. Respiratory System
Chapter 9. Breasts
Chapter 10. Abdomen
Chapter 11. Genitourinary System
Chapter 12. Male Reproductive System
Chapter 13. Female Reproductive System
Chapter 14. Musculoskeletal System
Chapter 15. Neurological System
Chapter 16. Nonspecific Complaints
Chapter 17. Psychiatric Mental Health
Chapter 18. Pediatric Patients
Chapter 19. Pregnant Patients
Chapter 20. Assessment of the Transgender or Gender Diverse Adult
Chapter 21. Older Patients
Chapter 22. Persons With Disabilities
, Chapter 1. Assessment and Clinical Decision Making: An Overview
Multiple Choice
Identify the choice that best completes the statement or answers the question.
1. Which type of clinical decision-making is most reliable?
A. Intuitive
B. Analytical
C. Experiential
D. Augenblick
2. Which of the following is false? To obtain adequate history, health-care providers must be:
A. Methodical and systematic
B. Attentive to the patient’s verbal and nonverbal language
C. Able to accurately interpret the patient’s responses
D. Adept at reading into the patient’s statements
3. Essential parts of a health history include all of the following except:
A. Chief complaint
B. History of the present illness
C. Current vital signs
D. All of the above are essential history components
4. 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. Recall knowledge of a range of conditions and their associated signs and symptoms
C. Recognize how certain conditions affect the response to other conditions
D. Foresee unpredictable findings
5. The following is the least reliable source of information for diagnostic statistics:
A. Evidence-based investigations
B. Primary reports of research
C. Estimation based on a provider’s experience
D. Published meta-analyses
6. The following can be used to assist in sound clinical decision-making:
A. Algorithm published in a peer-reviewed journal article
B. Clinical practice guidelines
C. Evidence-based research
D. All of the above
7. If a diagnostic study has high sensitivity, this indicates a:
A. High percentage of persons with the given condition will have an abnormal result
B. Low percentage of persons with the given condition will have an abnormal result
C. Low likelihood of normal result in persons without a given condition
D. None of the above
8. If a diagnostic study has high specificity, this indicates a:
A. Low percentage of healthy individuals will show a normal result
B. High percentage of healthy individuals will show a normal result
C. High percentage of individuals with a disorder will show a normal result
D. Low percentage of individuals with a disorder will show an abnormal result
9. A likelihood ratio above 1 indicates that a diagnostic test showing a:
A. Positive result is strongly associated with the disease
B. Negative result is strongly associated with absence of the disease
C. Positive result is weakly associated with the disease
D. 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. Clinical decision rule
C. Clinical algorithm
Chapter 1: Clinical reasoning, differential diagnosis, evidence-based practice, and symptom ana
Answer 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.
PTS: 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 rdecision r(or rprediction) rrules rprovide ranother rsupport rfor rclinical rreasoning. rClinical rdecision rrules rare
revidence-basedrresources rthat rprovide rprobabilistic rstatements rregarding rthe rlikelihood rthat ra rcondition rexists rif rcertain
rvariables rare rmet rwith rregard rto rthe rprognosis rof rpatients rwith rspecific rfindings. rDecision rrules ruse rmathematical
rmodels rand rare rspecific rto rcertain rsituations, rsettings, rand/or r patient rcharacteristics.
PTS: 1
,Chapter r2. rEvidence-based rhealth rscreening
Multiple r Choice
Identify rthe rchoice rthat rbest rcompletes rthe rstatement ror ranswers rthe rquestion.
r 1. The rfirst rstep rin rthe rgenomic rassessment rof ra rpatient ris robtaining rinformation rregarding:
A. Family rhistory
B. Environmental rexposures
C. Lifestyle rand rbehaviors
D. Current rmedications
r 2. An raffected rindividual rwho rmanifests rsymptoms rof ra rparticular rcondition rthrough rwhom ra rfamily rwith ra rgenetic
disorder ris rascertained ris rcalled ra(n):
A. Consultand
B. Consulband
C. Index rpatient
D. Proband
r 3. An rautosomal rdominant rdisorder rinvolves rthe:
A. X r chromosome
B. Y r chromosome
C. Mitochondrial rDNA
D. Non-sex rchromosomes
r 4. To rillustrate ra runion rbetween rtwo rsecond r cousin rfamily rmembers rin ra rpedigree, rdraw:
A. Arrows rpointing rto rthe rmale rand rfemale
B. Brackets raround rthe rmale rand rfemale
C. Double rhorizontal rlines rbetween rthe rmale rand
rfemale
D. Circles raround rthe rmale rand rfemale
r 5. To rillustrate rtwo rfamily rmembers rin ran radoptive rrelationship rin ra rpedigree:
A. Arrows rare rdrawn rpointing rto rthe rmale rand rfemale
B. Brackets rare rdrawn raround rthe rmale rand rfemale
C. Double rhorizontal rlines rare rdrawn rbetween rthe rmale rand
rfemale
D. Circles rare rdrawn raround rthe rmale rand rfemale
r 6. When ranalyzing rthe rpedigree rfor rautosomal rdominant rdisorders, rit ris rcommon rto rsee:
A. Several rgenerations rof raffected r members
B. Many rconsanguineous rrelationships
C. More rmembers rof rthe rmaternal rlineage raffected rthan
rpaternal
D. More rmembers rof rthe rpaternal rlineage raffected rthan
rmaternal
r 7. In rautosomal rrecessive r(AR) rdisorders, rindividuals rneed:
A. Only rone rmutated rgene ron rthe rsex rchromosomes rto racquire rthe
rdisease
B. Only rone rmutated rgene rto racquire rthe rdisease
C. Two rmutated rgenes rto racquire rthe rdisease
D. Two rmutated rgenes rto rbecome rcarriers
r 8. In rautosomal rrecessive rdisorders, rcarriers rhave:
A. Two rmutated rgenes; rone rfrom reach rparent rthat rcause
rdisease
B. A rmutation ron ra rsex rchromosome rthat rcauses ra rdisease
C. A rsingle rgene rmutation rthat rcauses rthe rdisease
D. One rcopy rof ra rgene rmutation rbut rnot rthe rdisease
r 9. With ran rautosomal rrecessive rdisorder, rit ris rimportant rthat rparents runderstand rthat rif rthey rboth rcarry ra rmutation, rthe
following rare rthe rrisks rto reach rof rtheir roffspring r(each rpregnancy):
A. 50% rchance rthat roffspring rwill r carry rthe
rdisease
B. 10% rchance rof roffspring raffected rby rdisease
, C. 25% rchance rchildren rwill rcarry rthe rdisease
D. 10% rchance rchildren rwill rbe rdisease rfree
r 10. A rwoman rwith ran rX-linked rdominant rdisorder rwill:
A. Not rbe raffected rby rthe rdisorder rherself
B. Transmit rthe rdisorder rto r50 r% rof rher roffspring r(male ror
rfemale)
C. Not rtransmit rthe rdisorder rto rher rdaughters
D. Transmit rthe rdisorder rto ronly rher rdaughters
r 11. In rcreating ryour rfemale rpatient’s rpedigree, ryou rnote rthat rshe rand rboth rof rher rsisters rwere raffected rby rthe rsame rgenetic
disorder. rAlthough rneither rof rher rparents rhad rindications rof rthe rdisorder, rher rpaternal rgrandmother rand rher
rpaternalrgrandmother’s rtwo rsisters r were raffected rby rthe rsame rcondition. rThis rpattern rsuggests:
A. Autosomal rdominant rdisorder
B. Chromosomal rdisorder
C. Mitochondrial rDNA rdisorder
D. X-linked rdominant rdisorder
r 12. A rwoman raffected r with ran rX-linked rrecessive rdisorder:
A. Has rone rX rchromosome raffected rby rthe r mutation
B. Will rtransmit rthe rdisorder rto rall rof rher rchildren
C. Will rtransmit rthe rdisorder rto rall rof rher rsons
D. Will rnot rtransmit rthe rmutation rto rany rof rher
rdaughters
r 13. Which rof rthe rfollowing rare rfound rin ran rindividual rwith raneuploidy?
A. An rabnormal rnumber rof rchromosomes
B. An rX-linked rdisorder
C. Select rcells rcontaining rabnormal-appearing rchromosomes
D. An rautosomal rrecessive rdisorder
r 14. The rpedigree rof ra rfamily rwith ra rmitochondrial r DNA rdisorder ris runique rin rthat:
A. None rof rthe rfemale roffspring rwill rhave rthe rdisease
B. All roffspring rfrom ran raffected rfemale rwill rhave rdisease
C. None rof rthe roffspring rof ran raffected rfemale rwill r have rthe
rdisease
D. All rthe roffspring rfrom ran raffected rmale rwill rhave rdisease
r 15. Which rpopulation ris rat rhighest rrisk rfor rthe roccurrence rof raneuploidy rin roffspring?
A. Mothers ryounger rthan
r18
B. Fathers ryounger rthan r18
C. Mothers rover rage r35
D. Fathers rover rage r35
r 16. Approximately rwhat rpercentage rof rcancers ris rdue rto ra rsingle-gene rmutation?
A. 50% rto
r70%
B. 30% rto
r40%
C. 20% rto
r25%
D. 5% rto r10%
r 17. According rto rthe rGenetic rInformation rNondiscrimination rAct r (GINA):
A. NPs rshould rkeep rall rgenetic rinformation rof rpatients rconfidential
B. NPs rmust robtain rinformed rconsent rprior rto rgenetic rtesting rof rall
rpatients
C. Employers rcannot rinquire rabout ran remployee’s rgenetic rinformation
D. All rof rthe rabove
r 18. The rleading rcauses rof rdeath rin rthe rUnited rStates rare rdue rto:
A. Multifactorial rinheritance
B. Single rgene rmutations
C. X-linked rdisorders
D. Aneuploidy
r 19. Which rof rthe rfollowing rwould rbe rconsidered ra r“red rflag” rthat rrequires rmore rinvestigation rin ra rpatient rassessment?
A. Colon rcancer rin rfamily rmember rat rage r70
, B. Breast rcancer rin rfamily rmember rat rage r75
C. Myocardial rinfarction rin r family rmember rat rage
r35
D. All rof rthe rabove
r 20. When rpatients rexpress rvariable rforms rof rthe rsame rhereditary rdisorder, rthis ris rdue rto:
A. Penetrance
B. Aneuploidy
C. De rnovo rmutation
D. Sporadic rinheritance
r 21. Your r2-year-old rpatient rshows rfacial rfeatures, rsuch ras repicanthal rfolds, rup-slanted rpalpebral rfissures, rsingle rtransverse
palmar rcrease, rand ra rlow rnasal rbridge. rThese rare rreferred rto ras:
A. Variable rexpressivity rrelated rto rinherited
rdisease
B. Dysmorphic rfeatures rrelated rto rgenetic rdisease
C. De rnovo rmutations rof rgenetic rdisease
D. Different rpenetrant rsigns rof rgenetic rdisease
r 22. In rorder rto rprovide ra rcomprehensive rgenetic rhistory rof ra rpatient, rthe rNP rshould:
A. Ask rpatients rto rcomplete ra rfamily rhistory rworksheet
B. Seek rout rpathology rreports rrelated rto rthe rpatient’s
rdisorder
C. Interview rfamily rmembers rregarding rgenetic rdisorders
D. All rof rthe rabove
1. 2. r Evidence-based rhealth rscreening
Answer rSection
MULTIPLE rCHOICE
1. ANS: A
A rcritical rfirst rstep rin rgenomic rassessment, rincluding rassessment rof rrisk, ris rthe ruse rof rfamily rhistory. rFamily rhistory ris
rconsideredrthe rfirst rgenetic rscreen r(Berry r& rShooner r2004) rand ris ra rcritical rcomponent rof rcare rbecause rit rreflects
rshared rgenetic rsusceptibilities, rshared renvironment, rand rcommon rbehaviors r(Yoon, rScheuner, r & rKhoury r2003).
PTS: 1
2. ANS: D
A rproband ris rdefined ras rthe raffected rindividual r who rmanifests rsymptoms rof ra rparticular r condition rthrough r whom ra
rfamily r with ra rgenetic rdisorder ris rascertained r(Pagon ret ral. r1993–2013). rThe rproband ris rthe raffected r individual rthat
rbrings rthe rfamily rto rmedicalrattention.
PTS: 1
3. ANS: D
Autosomal rdominant r(AD) rinheritance ris ra rresult rof ra rgene rmutation rin rone rof rthe r22 rautosomes.
PTS: 1
4. ANS: C
A rconsanguineous rfamily ris rrelated rby rdescent rfrom ra rcommon rancestry rand ris rdefined ras ra r“union rbetween rtwo
rindividuals rwhorare rrelated ras rsecond rcousins ror rcloser” r(Hamamy r2012). rConsanguinity, rif rpresent rin rthe rfamily rhistory,
ris rportrayed rusing rtwo rhorizontal rlines rto restablish rthe rrelationship rbetween rthe rmale rand rfemale rpartners.
PTS: 1
5. ANS: B
For radopted rmembers rof rthe rfamily, ruse rbrackets ras rthe rappropriate rstandardized rpedigree rsymbol r ([e.g., rbrackets]).
PTS: 1
6. ANS: A
, Pedigrees rassociated r with rautosomal rdominant r(AD) rdisorders rtypically rreveal r multiple raffected rfamily rmembers r with rthe
rdiseaseror rsyndrome. rWhen ranalyzing rthe rpedigree rfor rAD rdisorders ror rsyndromes, rit ris rcommon rto rsee ra r“vertical”
rpattern rdenoting rseveral r generations rof raffected rmembers.
PTS: 1
7. ANS: C
In rautosomal rrecessive r(AR) rdisorders, rthe roffspring rinherits rthe rcondition rby rreceiving rone rcopy rof rthe rgene rmutation
rfrom reachrof rthe rparents. rAutosomal rrecessive rdisorders rmust rbe rinherited rthrough rboth rparents r(Nussbaum ret ral. r2007).
rIndividuals rwho rhave ran rAR rdisorder rhave rtwo rmutated rgenes, rone ron reach rlocus rof rthe rchromosome. rParents rof ran
raffected rperson rare rcalled rcarriers rbecause reach rcarries rone rcopy rof rthe rmutation ron rone rchromosome rand ra rnormal rgene
ron rthe rother rchromosome. rCarriers rtypically rare rnot r affected rby rthe rdisease.
PTS: 1
8. ANS: D
Individuals rwho rhave ran rAR rdisorder rhave rtwo rmutated rgenes, rone ron reach rallele rof rthe rchromosome. rParents rof
ran raffected rperson rare rcalled rcarriers rbecause reach rparent rcarries rone r copy rof rthe rmutation ron rone rchromosome
rand ra rnormal rgene ron rtherother rchromosome. rCarriers rtypically rare rnot raffected rby rthe rdisease. rIn rpedigrees rwith ran
rAR rinheritance rpatterns, rmales randrfemales rwill rbe requally raffected r because rthe rgene rmutation r is ron ran rautosome.
PTS: 1
9. ANS: A
It ris rimportant rthat rparents runderstand rthat rif rthey rboth rcarry ra rmutation, rthe rrisk rto reach rof rtheir roffspring r(each
rpregnancy) ris ranrindependent revent: r25% rdisease rfree, r25% raffected, rand r50% r carrier.
PTS: 1
10. ANS: B
Everyone rborn rwith ran rX-linked rdominant rdisorder rwill rbe raffected r with rthe rdisease. rTransmission rof rthe rdisorder rto
rthe rnextrgeneration rvaries rby rgender, rhowever. r A rwoman r will rtransmit rthe rmutation rto r50% rof rall rher roffspring r(male ror
r female).
PTS: 1
11. ANS: D
A rman r with ran rX-linked rdominant rdisorder rwill rtransmit rthe rmutation rto r100% rof rhis rdaughters r(they rreceive rhis rX
rchromosome)rand rnone rof rhis rsons r(they rreceive rhis rY rchromosome). rThe rpedigree rof ra rfamily r with ran rX-linked
rdominant rdisorder rwould rreveal rall rthe rdaughters rand rnone rof rthe rsons raffected r with rthe rdisorder rif rthe rfather rhas ran rX-
linked rdisorder.
PTS: 1
12. ANS: C
An rX-linked rrecessive rdisorder rmeans rthat rin ra rwoman, rboth rX rchromosomes rmust rhave rthe rmutation rif rshe ris rto rbe
raffected.rBecause rmales rhave ronly rone rcopy rof rthe rX rchromosome, r they rwill rbe raffected rif rtheir rX rchromosome r carries
rthe rmutation.
PTS: 1
13. ANS: A
An rindividual rwith ran rabnormal rnumber rof rchromosomes rhas ra rcondition rcalled raneuploidy, rwhich ris rfrequently
rassociated rwithrmental rproblems ror rphysical r problems ror rboth r(Jorde, rCarey, r & rBamshad r2010; rNussbaum ret ral. r2007).
PTS: 1
14. ANS: B
Mitochondrial rDNA ris rinherited rfrom rthe rovum rand, rtherefore, rfrom rthe rmother. rThe rpedigree rof ra rfamily r with ra
rmitochondrialrDNA rdisorder ris runique rin rthat rall roffspring r(regardless rof rgender) rof ran raffected rfemale rwill rhave rthe
rdisease, rand rnone rof rthe roffspring rfrom ran raffected r male rwill r have rthe rdisease.
PTS: 1
15. ANS: C
Some rindividuals ror rcouples rhave runique ridentifiable rrisks rthat rshould rbe rdiscussed rprior rto rconception r whenever rpossible.
rForrexample, r women rwho rwill rbe r35 ryears rof rage ror rolder rat rdelivery r(advanced r maternal rage) rare rat rincreased rrisk rfor
raneuploidy.
PTS: 1
16. ANS: D
The rmajority rof rcancers rare rsporadic ror rmultifactorial rdue rto ra rcombination rof rgenetic rand renvironmental rfactors;
rhowever,rapproximately r5% rto r10% rof rall rcancers rare rdue rto ra rsingle-gene r mutation r(Garber r& rOffit r2005).
