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Advanced
Assessment
Interpreting Findings and
Formulating Differential Diagnoses
FOURTH EDITION
Copyright © 2019 by F. A. Davis Company. All rights reserved. This book is protected by copyright. No part of it may
be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical,
photocopying, recording, or otherwise, without written permission from the publisher.
As new scientific information becomes available through basic and clinical research, recommended treatments and drug
therapies undergo changes. The author(s) and publisher have done everything possible to make this book accurate,
up-to-date, and in accord with accepted standards at the time of publication. The author(s), editors, and publisher
are not responsible for errors or omissions or for consequences from application of the book, and make no warranty,
expressed or implied, in regard to the contents of the book. Any practice described in this book should be applied
by the reader in accordance with professional standards of care used in regard to the unique circumstances that may
apply in each situation. The reader is advised always to check product information (package inserts) for changes and
new information regarding dose and contraindications before administering any drug. Caution is especially urged when
using new or infrequently ordered drugs.
Authorization to photocopy items for internal or personal use, or the internal or personal use of specific clients, is granted
by F.A. Davis Company for users registered with the Copyright Clearance Center (CCC) Transactional Reporting Service,
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REFERENCE
National Academies of Science (2015). Report in brief: Improving diagnosis in health care. Retrieved from nas.edu/
improvingdiagnosis. May 20, 2018.
Personal Acknowledgments
from Laurie Grubbs
Most of all, I would like to thank my friend and coauthor, Mary Jo, for providing the impetus to
write this book—an often talked about aspiration that became a reality—and to F.A. Davis for
their enthusiasm, support, and patience during the process.
I would also like to thank my children, Jennifer and Ashley, for their support and for being
themselves—intelligent, talented, beautiful daughters.
Personal Acknowledgments
from Mary Jo Goolsby
I must also express thanks to my dear friend and colleague, Laurie. During much of my time in
academia, I have had the pleasure and honor of coteaching with Laurie, from whom I learned
so much.
Above all else, I also thank my husband, H. G. Goolsby. He continues to offer constant support
and encouragement, without which this and other professional achievements would not have
been possible.
vii
Deborah Blackwell, PhD, WHNP, Ann Maradiegue, PhD, RN, FNP-BC, FAANP
RNC-OB, CNE Consultant, Genetics Education and Patient
Associate Clinical Professor Advocacy
Northeastern University Charlotte Campus Washington, DC
Charlotte, North Carolina
Kim Pickett, PhD, APRN, BC-ADM
James Blackwell, DNP, FNP-BC Nurse Practitioner
Nurse Practitioner Diabetes & Endocrinology
Emergency Department Medical Group of the Carolinas
WJB Dorn VA Medical Center Spartanburg, SC
Columbia, South Carolina
Charon A. Pierson, PhD, GNP, FAANP, FAAN
Lisa Byrd APRN, PhD, FNP-BC, GNP-BC, Emeritus Editor, Journal of the American Association
Gerontologist of Nurse Practitioners
Practice Administrator Florida Health Care Plans Consultant, Geriatric Nursing Program Development
Lake Mary, Florida and Evaluation
Assistant Professor Gilbert, Arizona
University of South Alabama
Susanne Quallich, PhD, ANP-BC, NP-C,
Leslie L. Davis, PhD, RN, ANP-BC, FAANP, FAHA CUNP, FAANP
Associate Professor of Nursing Andrology Nurse Practitioner
University of North Carolina, Greensboro Division of Andrology and Urologic Health
Clinical Assistant Professor of Medicine Department of Urology
University of North Carolina, Chapel Hill University of Michigan Health System
Ann Arbor, Michigan
Valerie A. Hart, EdD, APRN, PMHCNS-BC
Professor of Nursing Emeritus Diane Seibert, PhD, RN, ANP, WHNP-BC,
Psychotherapist FAANP
College of Science, Technology & Health
Professor
University of Southern Maine
Associate Dean for Academic Affairs
Portland, Maine
Daniel K. Inouye Graduate School of Nursing
Catherine “Casey” Jones, PhD, RN, Uniformed Services University
Bethesda, Maryland
ANP-C, AE-C
Nurse Practitioner Karen J. Whitt, PhD, AGN-BC, FNP-C, FAANP
Texas Pulmonary and Critical Care Associates, P.A.
Associate Professor
Bedford, Texas
George Washington University
Assistant Professor
School of Nursing
Texas Woman’s University
Washington, DC
Dallas, Texas
ix
xi
I
The Art of Assessment
and Clinical Decision
Making
C
linical decision making is often fraught with uncertainties. According
to a recent report (Bernstein, 2017), over 20% of persons presenting for
second opinions in one facility had been misdiagnosed. Pat Croskerry
(2013) estimates that the diagnostic failure rate is as high as 15%. The “Augenblick
diagnosis” is one made within “the blink of an eye” based on intuition, and it is a
clinically dangerous state (p. 2445). While it works the majority of the time for
experienced clinicians, it fails more often than we recognize.
Croskerry (2013) describes two major types of clinical diagnostic decision
making: intuitive and analytical. Intuitive decision making is consistent with
the Augenblick diagnosis, in that the clinician relies on experience and intuition
and the diagnosis occurs rapidly and with little effort. However, as noted, this
type of decision making is less reliable and paired with fairly common errors. In
contrast, analytical decision making is based on careful consideration, takes more
time and effort, and has greater reliability with rare errors. Because practice set-
tings present a number of distractors and competing demands, it is critical that
diagnosticians step back, assess their processes and the data they are gathering,
and attend to the possibilities.
Diagnostic reasoning involves a complex process that is quickly clouded
by first impressions. The need to ensure necessary “data” requires a measured
approach, even when faced with common complaints such as chest pain. This
requires a consistent and measured approach to symptom analysis, physical as-
sessment, and data analysis. Expert diagnosticians are able to maintain a degree
of suspicion throughout the assessment process, consider a range of potential
explanations, and then generate and narrow their differential diagnosis on the
basis of their previous experience, familiarity with the evidence related to various
diagnoses, and understanding of their individual patient. Through the process,
clinicians perform assessment techniques involving both the history and physical
examination in an effective and reliable manner and then select appropriate di-
agnostic studies to support their assessment.
The importance of diagnostic reasoning and expertise is gaining recogni-
tion. The Society to Improve Diagnosis in Medicine (improvediagnosis.org)
offers a number of resources for clinicians and educators, designed to address
diagnostic error.
History
Among the assessment techniques essential to valid diagnosis is performing a
fact-finding history. To obtain adequate history, providers must be well orga-
nized, attentive to the patient’s verbal and nonverbal language, and able to ac-
curately interpret the patient’s responses to questions. Rather than reading into
the patient’s statements, they clarify any areas of uncertainty. The expert history,
like the expert physical examination, is informed by the knowledge of a wide
range of conditions, their physiological bases, and their associated signs and
symptoms.
The ability to draw out descriptions of the patient’s symptoms and expe-
riences is important because only the patient can tell his or her story. To assist
the patient in describing a complaint, a skilful interviewer knows how to ask
salient and focused questions to draw out necessary information without straying
(i.e., avoiding a shotgun approach, with lack of focus). The provider should
know, based on the chief complaint and any preceding information, what other
questions are essential to the history. It is important to determine why the symp-
tom brought the patient to the office—that is, the significance of this symptom
to the patient, which may uncover the patient’s anxiety and the basis for his or
her concern. It may also help to determine severity in a stoic patient who may
underestimate or underreport symptoms.
Throughout the history, it is important to recognize that patients may forget
details, so probing questions may be necessary. Patients sometimes have trouble
finding the precise words to describe their complaint. However, good descrip-
tors are necessary to isolate the cause, source, and location of symptoms. Often,
patients must be encouraged to use common language and terminology. For
instance, encourage the patient to describe the problem just as he or she would
describe it to a relative or neighbor.
The history should include specific components (summarized in Table 1.1)
to ensure that the problem is comprehensively evaluated. The questions to in-
clude in each component of the history are described in detail in subsequent
chapters.
Content on communicating with patients who have physical communica-
tion deficits is provided in Chapter 22. However, clinicians may encounter pa-
tients who communicate using different languages. In these instances, alternative
communication methods are critical in obtaining a necessary health history to
support a valid assessment and diagnosis.
When the patient speaks a different language from the interviewer, an in-
terpreter who is fluent in the languages of both the patient and the provider
must be called upon. The interpreter should be impartial and have experience in
interpreting health-related information and understand the importance of con-
fidentiality and accurately conveying each party’s communication. The patient’s
permission is needed prior to involving an interpreter.
When using an interpreter, questions should be as succinct as possible and
understanding should be validated by the interpreter. The clinician should face
and speak to the patient, rather than to the interpreter, being sensitive to body
language and expressions.
Physical Examination
The expert diagnostician must also be able to accurately perform a physical as-
sessment. Extensive, repetitive practice; exposure to a range of normal variants
and abnormal findings; and keen observation skills are required to develop phys-
ical examination proficiency. Each component of the physical examination must
be performed correctly to ensure that findings are as valid and reliable as possible.
Chapter 22 describes assessment of patients with physical disabilities. 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 in
ways that are not entirely predictable.
• distinguish the relevance of varied abnormal findings.
The aspects of physical examination are summarized in the following chap-
ters using a systems approach. Each chapter also reviews the relevant examination
for varied complaints. Along with obtaining an accurate history and performing
a physical examination, it is crucial that the clinician consider the patient’s vital
signs, general appearance, and condition when making clinical decisions.
Diagnostic Studies
The history and physical assessment help to guide the selection of diagnostic studies.
Diagnostic studies should be considered if a patient’s diagnosis remains in doubt
following the history and physical. They often help establish the severity of the di-
agnosed condition or rule out conditions included in the early differential diagnosis.
Just as the history should be relevant and focused, the selection of diagnostic studies
should be judicious and directed toward specific conditions under consideration.
The clinician should select the study (or studies) with the highest degree of sensitiv-
ity and specificity for the target condition while also considering cost-effectiveness,
safety, and degree of invasiveness. Selection of diagnostics requires a range of knowl-
edge specific to various studies and the ability to interpret the study’s results.
Resources are available to assist clinicians in the selection of diagnostic stud-
ies. For example, the American College of Radiology’s Appropriateness Criteria
provides guidelines on selecting imaging studies (see www.acr.org/Quality-
Safety/Appropriateness-Criteria). A number of texts review variables relative to
the selection of laboratory studies. Subsequent chapters identify specific studies
that should be considered for varied complaints, depending on the conditions
included in the differential diagnosis.
Diagnostic Statistics
In the selection and interpretation of assessment techniques and diagnostic
studies, providers must understand and apply some basic statistical concepts,
Table 1.2
Clinical Statistics
Statistic Description
Sensitivity The percentage of individuals with the target condition who would have an abnormal, or
positive, result. Because a high sensitivity indicates that a greater percentage of persons with
the given condition will have an abnormal result, a test with a high sensitivity can be used to
rule out the condition for those who do not have an abnormal result. For example, if redness of
the conjunctiva is 100% sensitive for bacterial conjunctivitis, then conjunctivitis could be ruled
out in a patient who did not have redness on examination. However, the presence of redness
could indicate several conditions, including bacterial conjunctivitis, viral conjunctivitis, corneal
abrasion, or allergies.
Specificity The percentage of healthy individuals who would have a normal result. The greater the spec-
ificity, the greater the percentage of individuals who will have negative, or normal, results if
they do not have the target condition. If a test has a high level of specificity so that a significant
percentage of healthy individuals are expected to have a negative result, then a positive result
would be used to “rule in” the condition. For example, if a rapid strep screen test is 98% specific
for streptococcal pharyngitis and the person has a positive result, then he or she has “strep
throat.” However, if that patient has a negative result, there is a 2% chance that the patient’s
result is falsely negative, so the condition cannot be entirely ruled out.
Pretest probability Based on evidence from a population with specific findings, this probability specifies the preva-
lence of the condition in that population, or the probability that the patient has the condition on
the basis of those findings.
Likelihood ratio This 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 1.0 indicates that a positive result is associated with the disease; a likelihood ratio less
than 1.0 indicates that a negative result is associated with an absence of the disease. Likelihood
ratios that approximate 1.0 provide weak evidence for a test’s ability to identify individuals
with or without a condition. Likelihood ratios above 1.0 or below 0.1 provide stronger evidence
relative to the test’s predictive value. The ratio is used to determine the degree to which a test
result will increase or decrease (from the pretest probability) the likelihood that an individual
has a condition.
BOX 1.1
Online Sources of Medical Calculators
Essential Evidence Plus
www.essentialevidenceplus.com
MedCalc 3000 Online Clinical Calculators
www.calc.med.edu/cc-idx.htm
Medical Algorithms Project
www.medal.org
National Center for Emergency Medicine Informatics
www.med.emory.edu/EMAC/curriculum/informatics.html
National Institutes of Health
www.nih.gov
Note: Sites active as of May 13, 2018. Other subscription-based sites are also available.
description of their supporting evidence and the situations in which they should
be applied.
These resources are not without limitations, and it is essential that they be
applied in the situations for which they were intended. In applying these tools to
clinical situations, it is essential that the diagnostician determine the population
for which the tool was developed, ensure the tool is applicable to the case at
hand, and have accurate data to consider in the tool’s application. For instance,
a clinical prediction rule based on a population of young adult college students
is not valid if applied to an elderly patient. The provider must also recognize that
these resources are intended to assist in the interpretation of a range of clinical
evidence relevant to a particular problem, but they are not intended to take the
place of clinical judgment, which rests with the provider.
BOX 1.2
Common Diagnostic Errors
• Jumping to conclusions or being biased by an early finding (e.g., something in
the patient’s medical history or recheck from a previous visit)
• Accepting previous diagnosis/explanation without exploring other possible
explanations (e.g., diagnosis of chronic bronchitis as explanation of chronic
cough in patient on angiotensin-converting enzyme [ACE] inhibitor)
• Using a shotgun approach to assessment without adequate focus
(Continued )
BOX 1.2— c o n t ’ d
• Focusing solely on the most obvious or likely explanation
• Relying solely on memory, which limits the diagnostician’s knowledge and
options to only what is memorized or recalled
• Using the wrong rule, decision tree, or other resource to guide analysis or
using the correct device incorrectly
• Performing skills improperly
• Misinterpreting or using wrong data
• Allowing the patient to make diagnosis (e.g., “I had sinusitis last year, and the
symptoms are exactly the same.”)
• Allowing other health-care professionals to lead the diagnosis in the wrong
direction
• Accepting the “horses” without contemplating the “zebras”; contemplating
zebras without adequately pursuing the possibility of a more common condition
• Accommodating patient wishes against clinician judgment
• Ignoring basic findings, such as vital signs
• Failing to consider medical conditions as the source of “psychiatric” symptoms
and psychiatric conditions as the source of “medical” symptoms
Summary
The content of this book is directed toward assisting clinicians to adequately as-
sess presenting complaints and then to consider reasonable explanations for the
complaint and findings. For each complaint, a summary of the relevant history
and physical assessment is provided, along with a list of conditions that should be
considered in the differential diagnosis. The lists of conditions are not exhaustive.
However, by noting the possibility of those included, clinicians will consider var-
ious potential etiologies and, by weighing the likelihood of these options, begin
to develop critical-thinking skills necessary for clinical decision making. Very
brief descriptions of the possible findings for each of the conditions are listed to
help guide the reader in recognizing definitive clusters of signs and symptoms.
Above all, practice and experience provide the skills necessary for accurate
diagnosis. These skills are supported by lifelong learning through which clini-
cians maintain an awareness of the highest level of evidence relative to assessment
and diagnosis.
REFERENCES
Bernstein, L. (2017). 20 percent of patients with serious conditions are first misdiagnosed, study says. The
Washington Post, Retrieved from https://www.washingtonpost.com/national/health-science/20-percent-
of-patients-with-serious-conditions-are-first-misdiagnosed-study-says/2017/04/03/e386982a-189f-11e7-
9887-1a5314b56a08_story.html?utm_term=.b0775c60f376 (accessed May 13, 2018).
Croskerry, P. (2013). From mindless to mindful practice—Cognitive bias and clinical decision making.
New England Journal of Medicine 368 (26), 2445–2448, doi: 10.1056/NEJMp1303712.
Genomic Assessment:
Interpreting Findings
and Formulating Differential
Diagnoses
Ann Maradiegue •
Diane Seibert •
Karen Whitt •
Introduction
Significant advances in the field of genetics/genomics have taken place over the
past decade. One of the most clinically relevant changes has been the shift toward
precision medicine, defined by the National Institutes of Health (NIH) as “an
emerging approach for disease treatment and prevention that takes into account
individual variability in genes, environment, and lifestyle.” (U.S. National
Library of Medicine, 2017h, p. 1). Precision medicine adds genomic informa-
tion to the standard history, physical exam, and diagnostic findings to select
more effective therapies or inform prevention strategies for an individual, rather
than using the current “standard therapy” model of care. Advances in genomic
information continue to transform the way health care is delivered. Studies are
underway to examine how parents, clinicians, and health-care systems manage
genomic information if a baby’s entire genomic profile were to be sequenced
shortly after birth (Berg, et al., 2017).
Identifying the cause of diseases such as coronary artery disease, cancer,
stroke, and diabetes is difficult because most common conditions are influenced
by a combination of genetic and environmental factors (Muñoz, et al., 2016).
Nurse practitioners (NPs) and other clinicians, therefore, need to have knowl-
edge and skills to conduct an adequate genomic assessment, including obtaining
and interpreting data, to identify individuals who are at increased risk or have
symptoms of an inherited genetic disorder. Clinicians should be able to gather
13
Table 2.1
Selected Definitions Commonly Used in Genetics and Genomics
Genetic/Genomic Term Definition
Affected Individual who manifests the disorder.
Consanguinitya Related in descent by a common ancestor.
De novo mutationsa A new, spontaneous mutation (noninherited); alteration in a gene present for the first
time in the family member resulting from a germ cell mutation.
Expressivity (variable)a The range of clinical features observed in individuals with a particular disorder. Variable
expressivity applies to disorders following all patterns of inheritance.
Genesa The functional and physical unit of heredity passed from parent to offspring. There are
approximately 20,000 to 25,000 genes in each cell of the human body.
Geneticsa The study of heredity, the process in which a parent passes certain genes onto their chil-
dren, and how particular qualities of traits are transmitted from parents to offspring; the
study of single genes and their effects. A person’s appearance (e.g., height, hair color, skin
color, and eye color) is determined by genes. Other characteristics, such as mental abilities,
natural talents, and susceptibility to develop certain diseases, are also affected by heredity.
Genomea All the DNA contained in an organism or a cell, which includes both the chromosomes
within the nucleus and the DNA in mitochondria.
Genomicsb The study of the functions and interactions of all the genes in the genome.
Mutationa A permanent structural alteration in DNA. In most cases, DNA changes either have no
effect or cause harm, but occasionally a mutation can improve an organism’s chance of
surviving and passing the beneficial change on to its descendants.
Pedigreec A graphic illustration of a family health history using standardized symbols. A genetic
representation of a family tree that diagrams the inheritance of a trait or disease through
several generations and shows relationships between members.
Penetrancea The proportion of individuals with a mutation causing a particular disorder who exhibit
clinical symptoms of that disorder.
Phenotypea Observable traits or characteristics.
Probandc The affected individual by whom a family with a genetic disorder is ascertained.
a
U.S. National Library of Medicine, 2017d; bNational Institute of Allergy and Infectious Diseases, 2009; cNational
Human Genome Research Institute, n.d.
includes the use of genomic data when making diagnostic, prognostic, preven-
tion, or therapeutic decisions (Manolio, et al., 2013). Genomic science, often
referred to as omics-based medicine, includes the genome as well as concepts such
as polymorphisms (small, and often silent, genetic “spelling differences”), the in-
teractome (the totality of molecular interactions in an organism), and proteome
(all the proteins) to name a few (BioLicense, 2013; Khoury, et al., 2007). Using
omics-based medicine increases understanding of disease processes and advances
disease prediction, prognosis, drug response (pharmacogenetic/pharmacogenom-
ics), and offers the opportunity to personalize care (Redekop & Mladsi, 2013;
Tanaka, 2010).
This chapter emphasizes assessment techniques such as collecting and inter-
preting the family history and using risk assessment to help NPs more rapidly
and effectively identify patients who might be at increased risk for a genetic
Minä pysähdyin.
»No?»
Minä olin jo varmistunut siitä, että hän oli kunnian mies, ja siksi
uskoin häntä. Hänen huomattava levottomuutensa ystävän puolesta
herätti minussa jonkinlaista liikutusta. Sitäpaitsi tiesin olevani
liukkaalla maalla, joka teki varovaisuuden tarpeelliseksi.
XII luku
Tienristeyksessä
»Mitä ajattelette?»
»Niin olen.»
»Kaksi…?»
Kohautin olkapäitäni.
»Sen täytyy niin olla», sanoin minä. »Jos saa perinnön, niin se on
otettava vastaan velkoineen ja kaikkineen.»
»Mahdollisesti.»
»Herra kardinaali.»
»En kysynyt kuka», sanoi hän kuivasti. »Kysyin mikä. Teillä ei ollut
vihaa minua vastaan?»
»Ei.»
»Mikä kumma teidät siis sai niin tekemään? Lempo soikoon, hyvä
herra», jatkoi hän kiivaasti ja avomielisempään tapaan kuin oli ennen
käyttänyt, »luonto ei ole ikinä aikonut teistä pyöveliä. Mikä olikaan
siis syynä?»
Minä nousin seisaalle. Oli hyvin myöhä, huone oli tyhjä ja tuli
sammumaisillaan.
»Niin.»
»Tavata tai puhutella minua? Ei, sen kyllä käsitän», sanoin minä.
»Mutta tahdon kumminkin puhella hänen kanssaan.»
»Niin, minä en ole aivan niin tyhmä kuin te luulette!» huudahti hän
vihasta säihkyvin katsein. »Minulla on silmät nähdäkseni.»
»Siksi, että haluan selittää teille eräitä asioita, joita ette ymmärrä.»
Se koski minuun.
Hän ei vastannut.
»Jos pidätte, niin teidän tulee antaa minun puhua. Evätkää vielä
kerran, mademoiselle — en minäkään ole muuta kuin ihminen — niin
jätän teidät rauhaan. Mutta te kadutte sitä vielä koko ikänne.»