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The Nature of Disease Pathology For The Health Professions 2nd Edition Ebook PDF
The Nature of Disease Pathology For The Health Professions 2nd Edition Ebook PDF
The Nature of Disease Pathology For The Health Professions 2nd Edition Ebook PDF
vi
Reviewers vii
Gina Stephens
Program Chair, Medical Business Administrative
Technologies
Georgia Northwester Technical Colleage
Rome, GA
Preface
This Second Edition of The Nature of Disease (TNOD) paper, I know that brevity, manner, and style are the
is, like the first edition, written for a particular audi- essence of written communication. TNOD adopts a
ence: students in the health professions. deliberately casual narrative style, which served me well
In this edition, I combine three important features to in medical practice. It makes reading easier, holds the
bring students a unique learning experience. reader’s attention, and enhances understanding and
recall of important points without sacrificing scientific
• First, my writing style is deliberately casual. It is a nar-
relevance.
rative (storyteller) style, which is less formal than the
TNOD focuses on answering the most important
stiff prose that populates similar textbooks. My expe-
questions that students have about every disease—
rience shows that it makes reading and learning easier.
definition of the condition, its cause, how the anatomy
• Second, each chapter opens with a review of normal
and physiology change and evolve, how it is diagnosed
anatomy and physiology. Given that pathology and
and treated, and the outlook. Along the way, the text
pathophysiology are nothing more than normal
uses a number of devices to deepen understanding,
anatomy and physiology gone wrong, a brief review
retain interest, and enhance recall:
prepares the reader for the disease discussions that
follow. • Much of the molecular and microscopic detail typically
• Third, each chapter focuses on one or more case stud- found in similar textbooks has been eliminated. Each
ies, which bind the material together and make it chapter focuses on the essentials necessary to build a
more memorable. broad, fundamental understanding, with supporting
detail where relevant.
Classroom Vetted • New terms are boldfaced and defined at their first use
in the narrative. This practice alerts the reader to the
importance of the new term, which is defined in the
TNOD literally grew out of a classroom. When I joined
same sentence, or the one immediately following.
the academic community in 1997 after a career in the
Terms of secondary importance are italicized.
laboratory business, the classroom was an alien place to
• Selected important phrases are italicized for emphasis.
me. I puzzled over the fact that the students I taught,
For example, in Chapter 7, Disorders of Blood Cells,
who were of the very highest quality, still had trouble
the following italicized phrase emphasizes the threat
grasping the material. I began to pay more attention
of colon cancer: . . . until proven otherwise, the cause
to the textbooks available, and learned the student
of iron deficiency anemia in adult men or postmeno-
perspective of most pathology texts: they are difficult
pausal women is occult (undetected) bleeding from the
to read.
gastrointestinal tract.
Much of the difficulty springs from the fact that
• The narrative is sprinkled with quotations—serious,
most pathology books are compilations written by mul-
whimsical, or humorous—to humanize the material
tiple authors, each with a certain writing style and with
and make the subject matter more memorable. For
differing views about the relative importance of things.
example, Chapter 9, Disorders of the Heart, begins
Their style is generally formal. The text doesn’t flow,
with a line from country and western singer Tim
and reading is bare of enjoyment. I avoid these prob-
McGraw’s tune, “Where the Green Grass Grows”:
lems by bringing a single point of view and a natural
“. . . another supper from a sack, a ninety-nine cent
writing style that is easy to read and remember.
heart attack. . . .” This snippet of lyric speaks vol-
umes about the American diet and heart disease, and
Approach students invariably enjoy and remember it.
• History of Medicine boxes further humanize the nar-
Having spent much of my professional life commu- rative by presenting historical anecdotes that put in its
nicating with busy physicians buried in a blizzard of historical perspective. For example, in Chapter 23,
viii
Preface ix
Disorders of Daily Life, the box titled French Food, twist to some of them, which imagines a better outcome
Fast Food, Fat Food discusses the history of res- for the patient had the case unfolded in a different way.
taurants, the development of fast food in America, For example, in Chapter 8, Disorders of Blood Vessels,
and the devastating rise of obesity in America since the case is that of a man found dead in his office. He
World War II. Study of the history of medicine had a history of high blood pressure, obesity, lack of
makes the scienctific points memorable in a way not exercise and tended not to take his antihypertension
achievable otherwise. prescription drugs. The alternative scenario imagines
the patient behaving differently—losing weight, taking
Cases his blood pressure medicine regularly, exercising, and
watching his diet—and living happily ever after.
Each chapter is built around one or more real-life cases.
Learning about disease, its development, and its effects Organization
is an academic exercise, which requires orderly study
using textbooks, lectures, seminars, journals, lab ex- Although this textbook is unique in many ways, it
periments, and so on. is organized in a familiar fashion: it presents general
Another important tool in understanding this sub- pathology and pathophysiology first and follows with
ject is case studies. The case-study method for learning discussions of disorders of organ systems.
medicine is as old as medical science. A case study is Part 1, Mechanisms of Health and Disease, opens with
the “story” of a particular patient and the course of a chapter titled Health and Disease, which discusses the
their condition over a period of time. Cases human- nature of d isease—that is, the intimate relationship be-
ize and particularize medicine in a way that no other tween form and function in health and in illness. This
method can. Diseases occur in people, and people vary chapter also emphasizes the difference between the dis-
greatly from one to another. Every disease occurs in ease itself and the signs and symptoms it produces. The
someone of a certain age, sex, and ethnicity; someone failure of healthcare professionals and their patients to
who lives a certain lifestyle, and who, for good or ill, appreciate this distinction accounts for a great deal of
has found a certain niche in life. Every one of these medical misdirection and misunderstanding. The re-
characteristics relates in some way to the condition maining chapters in Part 1 deal with pathologic forces
from which they are suffering when we meet them in that can affect any part of the body: the life and death
the chapters. of cells, inflammation and repair, immune disorders,
Cases are chosen to illustrate a point, usually about infections, neoplasia, and aberrations of fluid balance
disease behavior, diagnosis, or treatment. Typically they and blood flow.
are written in the past tense, do not use the patient’s Part 2, Disorders of Organ Systems, expands on the
real name, and follow a certain form, (discussed in understanding established in Part 1 by discussing con-
detail below). Individualizing disease by presenting it ditions of the various organs and organ systems. Along
in living, breathing, flesh-and-blood form enhances the way, the narrative is stitched together with liberal
learning. use of cross-references to other material. In early chap-
The idea is to make the story memorable, the better ters cross-references steer the reader to more detailed
from which to learn, by telling the story as it actually discussion in later chapters. In later chapters they r ecall
happened and by including the unadorned facts, some earlier discussion of basic concepts. For example, in
of which may not be flattering to patients or c aregivers. Chapter 17, Disorders of the Female Genital Tract and
In this book, we have condensed cases to their essence, Breast, the discussion of dysplasia of the cervix calls
which means I have eliminated unimportant detail. on the reader to understand the concept of metaplasia,
And in some cases, I have added a bit of fiction to the which was defined and discussed initially in Chapter 2.
illness to add teaching value. I am confident you will Part 3, Disorders of the Stages and States of Life, fuses
find these memorable, because all of them are real knowledge gained in Parts 1 and 2 into discussions
people in some disguise. of disorders associated with states of being. We suffer
Many TNOD cases are supplemented by “What differently as we progress from fetus, to neonate, to
if . . .?” alternative scenarios that are posted online child, to adult, and to old age. Foremost we are prison-
at thePoint.com. This feature is entitled The Road Not ers of our genes—some grant partial exemption from
Taken—An Alternative Scenario. Because most of the risk, others are the outright cause of disease. To a lesser
cases are derived from autopsy material, I have added a extent we are prisoners of environment and habit.
x Preface
We benefit from careful diet, exercise and helpful stress. Instructor Resources
Or we suffer from harmful stress malnutrition, obesity, in-
dolence, tobacco use or illicit drug abuse. We are always In addition to the student resources (see Digital Con-
at risk of trauma and the problem of pain is universal. nections on page xiii) instructors also have access to the
following teaching tools:
Art Program
• PowerPoint slides with accompanying lecture notes
• Image bank of figures from the text
No textbook of pathology can succeed without a first-
• Answers to Chapter Challenge review questions in
rate art program. Line art simplifies the structures and
the text
concepts depicted by distilling them to their basic,
• Test generator with more than 2,000 questions
most easily recognizable forms, while photographs
show anatomic structures as they appear in real life.
The Nature of Disease is richly illustrated with both. Summary
Text discussions are augmented by more than 560
full-color figures. In keeping with the core notion that I trust you will learn by study of the material. But more
anatomic form and function go hand in hand, this text- than that, I hope you will enjoy reading it. I have spent
book contains more gross clinical photographs of pa- a great deal of time and energy to make the science
tients and pathologic photographs of organs, tissues and clear and the reading easy. This book is larded with hu-
cells than comparable texts. Each photograph illustrates manity in order to make the science easy to grasp and
a critical point and is intended to speak for itself. The retain. My hope is that this distinctive approach will
guiding principle in developing medical line art is that entertain and will give disease a human face.
good art should be understandable at a glance, or with So, here it is; judge for yourself. And after you have
minimal study. Our line drawings have been designed to judged, I want you to tell me what you think. This is
be esthetically pleasing and to guide the reader’s thought no idle invitation—please send your comments, sug-
without refering to the text or to read a lengthy legend. gestions, praise, or criticism to me at thmiii@gmail.com
A full description of each of the text’s features as
well as the online resources can be found in Chapter Thomas H. McConnell, MD, FCAP
Features: A Guided Tour, which begins on the next page. Dallas, Texas
Chapter Features: A Guided Tour
Each chapter content begins with a discussion of normal anatomy and physiology, provid-
ing just the right amount of information to support the disease discussions that follow.
The disease discussions are the core of each chapter and consist of a narrative examina-
tion of the many disorders that may arise.
The discussion of normal anatomy and physiology and of diseases and disorders is
enhanced by the following features:
xi
xii Chapter Features: A Guided Tour
Chapters are sprinkled with two types of questions, visual reminders of key points, and
special boxed features.
Case notes. These are case-related questions that pertain to the re-
lationship between the case and the topic at hand. For example, in
Chapter 9, Disorders of the Heart, there is a discussion on the prin-
ciple mechanisms of heart disease (e.g., pump failure, obstructed
flow, etc.). The patient, Willard, suffered from stenosis of the aortic
valve. Case Note 9.3 is “Which of the five principle mechanisms of
heart disease did Willard have?” Answers are posted online.
• Supplemental Case Study: “She’s gone.” The case of Rita B. • The Clinical Side: Measurement of Glomerular Fil-
• Lab Tools: Mixing Blood and Water tration Rate
• Animation: Cirrhosis • The Road Not Taken: Case Study Alternative Scenario
• History of Medicine: The History of DNA
Chapter 13: • Lab Tools: Laboratory Diagnosis in Genetic Disease
• Molecular Medicine: Meiosis—From 46 Chromo-
somes to 23 and Back Again
• Animations: Diabetes, Hormone Control (Insulin
• The Clinical Side: Diagnosis of Cytogenetic Defects
and Glucose Metabolism)
• The Road Not Taken: Case Study Alternative Scenario
• Supplemental Case Study: “He drinks; I don’t.” The Chapter 23:
case of Charisa M.
• The Road Not Taken: Case Study Alternative Scenario
Chapter 14: • History of Medicine: Benjamin Franklin and Lead
Toxicity
• History of Medicine: President John F. Kennedy and • The Clinical Side: Metabolic Rate and Aging
Addison Disease
Chapter 24:
Chapter 15:
• The Clinical Side: Eat Less, Live Longer?
• Animation: Renal Function
Acknowledgments
There was a time when I paid little attention to Ac- executive acquisition editor, oversaw the first edition
knowledgments pages in books. That was before I and continued his role with this second edition.
became an author and realized how critical are the con- In publishing a medical textbook many people are
tributions of people whose names are not on the cover. working independently on pieces of the whole. There
The first edition of TNOD would not have occurred are the text documents (in successive versions), the art
but for a chain of unlikely events that led me into aca- and photographs (in separate successive versions), the
demia after a career as a practicing pathologist. It began design team and its work products, the compositors
in June 1997 when I answered the phone to hear the who assembled all into the final layout you are now
voice of Lynn Little, a former employee I’d not heard examing, and the printers. Eve Klein, Senior Product
from in years. He was calling in his capacity as Chair- Development Editor, kept us and our work organized
man of the Medical Laboratory Sciences department and on time. This was no mean feat.
in the UT Southwestern Allied Health Sciences School I fancied myself good with words until I got into
(now the School of Health Professions). Lynn asked if I the hands of professional editors. To an extent that
would be interested in teaching the required pathology would surprise those not familiar with the editorial
course. Being somewhat at loose ends at the time, and process, this second edition is the product of the superb
having narrowly chosen private practice over academia editorial skills of Development Editor Laura Bonaz-
30 years earlier, I leapt at the chance. zoli. Laura collected and codified critiques of the first
Then came the task of assembling course materials edition and suggested structural reorganization of the
from the archives in the pathology department of UT content of this second edition. On a smaller scale she
Southwestern Medical School. Beni Stewart, guru in made chapter-by-chapter detailed recommendations
the photography lab, and Beverly Shackelford, Supervi- about sequence, organization, and emphasis. Later, as
sor of Education Programs, guided me through a huge draft chapters emerged, her medical knowledge added
collection of microscopic slides and photo images and materially to chapter scientific accuracy and complete-
helped me assemble the rudiments of a course. ness, and her skill with words and grammar greatly
Next I created an outline for students, which after improved text flow and comprehension.
a few years evolved into a ring-bound textbook. Soon Finally, a few words about Vera Paulson, MD, PhD,
word spread, other institutions began wanting to use and Mark Valasek, MD, PhD, products of the MD/PhD
my materials and before long I found myself in the program at UT Southwestern. Their work is embed-
publishing business. This was time-consuming, so I ded on every page. I wrote the first and final drafts
decided to mail copies to about two dozen publishers. of each chapter, but they independently combed the
One landed at Lippincott Williams and Wilkins. Several intermediate drafts for scientific completeness and
other publishers were interested, but it didn’t take long accuracy. Each also has knack for organizing thoughts
for Lippincott to rise to the top of the heap by virtue of and a way with words that greatly improved the final
plainly evident professionalism. product.
Then came the formal editorial process, completely
new to me, which proved to be one of the best educa- Thomas H. McConnell, MD, FCAP
tional experiences in a lifetime of learning. David Troy, Dallas, Texas
xv
Contents
xvi
Expanded Contents
Preface viii
5 Neoplasia 114
Characteristics and Definitions of Neoplasia 116
Chapter Features: A Guided Tour xi
The Causes of Cancer 118
The Molecular Basis of Neoplasia 120
Acknowledgments xv The Biology of Neoplastic Growth 121
Clinical Manifestations 127
Part 1 Clinical and Laboratory Assessment
of Neoplasms 129
Mechanisms of Health and Disease Cancer Treatment 134
Early Detection and Prevention of Cancer 136
1 Health and Disease 2
What Is Disease? 3 6 Disorders of Fluid, Electrolyte and Acid-Base
How Do Scientists Study Disease? 5 Balance, and Blood Flow 140
What Causes and Influences Disease? 6 Pressure and the Movement of Body Fluids 142
How Is Disease Expressed? 7 Fluid Flow in Blood Vessels and Lymphatics 145
How Are Medical Tests Interpreted? 9 Water and Fluid Compartments 145
Fluid Imbalance 148
2 Cellular Pathology: Injury, Inflammation, Electrolyte Imbalances 152
and Repair 16 Acid-Base Imbalance 154
Cell Reproduction and Differentiation 17 Hyperemia and Congestion 157
Cell Injury, Disease, and Death 20 Hemostasis 158
The Inflammatory Response to Injury 26 Hemorrhage 160
Repair 35 Thrombosis 163
Disseminated Intravascular Coagulation 166
3 Disorders of the Immune System 43 Embolism 166
Non-Immune Defense Mechanisms 46 Infarction 167
Lymphoid Organs and the Lymphatic System 48 The Collapse of Circulation: Shock 169
Innate and Adaptive Immunity 48
Cells of the Immune System 51
B Lymphocyte (Antibody)-Mediated Immunity 51
Part 2
T Lymphocyte (Delayed)-Mediated Immunity 53 Disorders of the Organ Systems
Hypersensitivity Reactions 54
Allergic Disorders and Atopy 57 7 Disorders of Blood Cells 177
Autoimmune Disorders 60 The Formed Elements of Blood 179
Amyloidosis 64 Laboratory Assessment of Formed
Immunity in Tissue Transplantation and Blood Elements 183
Transfusion 65 Anemia 183
Immunodeficiency Disorders 69 Polycythemia 194
Leukopenia, Leukocytosis, and Lymphadenopathy 194
4 Infectious Disease 79 Overview of Malignancies of White Blood Cells 195
The Biology of Infectious Disease 82 Myeloid Malignancies 197
Virus Infections 89 Lymphoid Malignancies 200
Bacterial Infections 92 Disorders of the Spleen and Thymus 206
xvii
xviii Expanded Contents
10 Disorders of the Respiratory Tract 276 Disorders of the Parathyroid Glands 439
Multiple Endocrine Neoplasia Syndromes (MEN) 441
The Normal Respiratory Tract 278
Lung Volume, Air Flow, and Gas Exchange 281
Diseases of the Upper Respiratory Tract 283 15 Disorders of the Urinary Tract 445
Atelectasis 284 The Normal Urinary Tract 447
Pulmonary Edema 285 Urine 453
Acute Respiratory Distress Syndrome 285 Urinary Obstruction 457
Obstructive Lung Diseases 286 Urolithiasis 460
Restrictive Lung Diseases (Diffuse Interstitial Disease) 291 Neoplasms of the Urinary Tract 461
Vascular and Circulatory Lung Disease 293 Congenital Anatomic Abnormalities 465
Pneumonia 294 Infection and Inflammation 466
Lung Neoplasms 298 Voiding Disorders 466
Diseases of the Pleura 301 Clinical Presentations of Renal Disorder 470
Inherited, Congenital, and Developmental Disorder 471
1
CHAPTER
Contents
Case Study “My daughter has a fever and an earache.” HOW IS DISEASE EXPRESSED?
The case of Anne M. Symptoms Are Subjective, and Signs Are Objective
Medical Tests Provide Data about Disease
WHAT IS DISEASE? A Syndrome Is a Collection of Symptoms, Signs, and Data
HOW DO SCIENTISTS STUDY DISEASE? HOW ARE MEDICAL TESTS INTERPRETED?
Pathology Is the Study of Disease in Individuals The Terms Normal and Abnormal Describe Observations
Epidemiology Is the Study of Disease in Populations and Measurements
Test Sensitivity and Specificity Are Key Considerations
WHAT CAUSES AND INFLUENCES DISEASE?
Tests Vary in Their Predictive Value
All Disease Is Due to Environmental Injuries and/or
Disease Prevalence Influences a Test’s Usefulness
Genetic Defects
Determinants of Health Can Indirectly Influence Case Study Revisited “My daughter has a fever and an
Disease earache.” The case of Anne M.
Chapter Objectives
After studying this chapter, you should be able to WHAT CAUSES AND INFLUENCES DISEASE?
complete the following tasks: 6. Discuss the roles of environmental factors, genetic
factors, and determinants of health in the disease
WHAT IS DISEASE? process.
1. Define disease, and compare and contrast acute and
HOW IS DISEASE EXPRESSED?
chronic disease.
7. Compare and contrast symptoms and signs.
2. Describe the relationship between structure and
8. List the types of tests that are used to study disease
function.
(consider anatomical and clinical pathology).
3. Discuss disease progression from latent period to
complications/sequelae. HOW ARE MEDICAL TESTS INTERPRETED?
9. Explain the meaning of the terms “mean,” “normal
HOW DO SCIENTISTS STUDY DISEASE? range,” and “standard deviation” as they relate
4. Compare and contrast the terms “etiology,” to medical tests and the concepts of normal and
“pathogenesis,” and “pathophysiology.” Also abnormal.
compare and contrast the terms “idiopathic,” 10. List the factors that influence the use of diagnostic
“iatrogenic,” and “nosocomial.” tests. How does disease prevalence and incidence af-
5. Define “epidemiology,” “incidence,” and fect a diagnostic test? How should these tests be ad-
“prevalence.” ministered (e.g., why administer a sensitive test first)?
2
Case Study
“My daughter has a fever and an earache.” The case of Anne M.
Chief Complaint: Fever and earache Clinical Course: The next evening Anne’s mother
returned her to the clinic. She said Anne was still
Clinical History: Anne M. was a 21-month-old girl feverish but seemed strangely sleepy and “jumpy”
sitting in her mother’s lap. Her mother told the nurse at the same time. The nurse practitioner called in a
practitioner that Anne had had a runny nose for sev- pediatrician for consultation who found that Anne’s
eral days but no fever. She became feverish, however, neck was now stiff and she cried when her head was
during the afternoon and had been crying and tug- moved. The anterior fontanel had become tense and
ging at her left ear. This is when her mother brought bulging. The pediatrician inserted a needle between
her to the emergency room. two lumbar vertebrae to collect a sample of spinal
fluid (a spinal tap). The cerebrospinal fluid was milky.
Physical Examination and Other Data: The nurse Lab microscopic examination revealed that it con-
practitioner found that Anne had a temperature of tained many white blood cells and a few rod-shaped
103°F and a perforated left eardrum with pus in the bacteria. A call to the laboratory revealed that the ear
external auditory canal. Crusted mucus was present in culture obtained the day before was growing a pure
and around the nostrils. The remainder of the exam growth of the bacterium Haemophilus influenzae. The
was unremarkable—there was no skin rash, the chest diagnosis became acute bacterial meningitis. Anne was
was clear, the neck was flexible and moving the head admitted to the hospital and placed on high doses of
produced no reaction from the child, and the anterior intravenous antibiotics. She made a prompt recovery.
cranial fontanel was flat and soft. The practitioner After you have read this chapter, you should be
made a diagnosis of acute rhinitis (a “cold”) and acute able to discuss this case in proper scientific terms
otitis media (a middle ear infection), swabbed the pus and explain why the physical examination did not
for culture by the lab, and wrote a prescription for an detect meningitis on the first visit, and why diagnosis
antibiotic. became certain the next day.
In this chapter we are going to introduce you to disease, according to whether or not disease is actually present. So
how it develops from beginning to end, and how it affects what, precisely, is disease?
our anatomy and the functioning of our organs. But what Disease is really nothing more than healthy anatomy
exactly is disease? How does it differ from health? What’s (structure) and physiology (function) gone wrong. Put
more, how can you know if someone is unhealthy, and if another way, disease is a condition resulting from ana-
unhealthy, how can you discover the cause? Then, once tomical distortion or physiologic dysfunction. This defi-
you know the cause, what can you do to correct the situ- nition holds whether or not the distortion or dysfunction
ation safely; what can you say about the patient’s future? is perceptible. Sometimes disease will cause no obvious
dysfunction or “dis-ease,” especially in the early stages,
as we saw with the young man above. Moreover, some
What Is Disease? distortions occur at the molecular level and may not be
detectable even under a microscope. Another example is
A young man visits his physician for a routine checkup. high blood pressure, which is a famously silent killer.
He feels fine and has a completely normal physical Structure and function are inseparably locked together.
exam—despite the fact that an undetected malignant tu- For example, bacterial infection of the mitral heart valve
mor is growing in his lungs. Although this young man and may erode a hole (a structural abnormality) in the valve
his physician perceive him as healthy, he is certainly sick. (Fig. 1.1). With each ventricular contraction, the hole
That’s because the terms sickness and health refer to a state allows backflow of blood (a dysfunction) into the left
characterized, not according to how a person feels, but atrium. This inefficiency causes the heart to perform extra
3
4 Part 1 • Mechanisms of Health and Disease
Normal Thickened
thickness heart muscle
Figure 1.2 Initial functional disorder. High blood pressure is the initial
functional disorder. Pumping against abnormally high pressure puts ex-
cess strain on the left ventricle. The result is thickening of heart muscle—a
structural disorder.
Case Notes
1.3 Is Anne’s disease idiopathic? What Causes and Influences
Disease?
Epidemiology Is the Study of Disease When considering the origin of disease, it’s important to
in Populations distinguish between two types of factors: those that are ca-
pable of directly causing disease, and those that indirectly
Epidemiology is a discipline of medicine that studies
influence the initiation and progression of disease.
the broad behavior of disease in large populations. One
goal of epidemiology is to determine the incidence of a All Disease Is Due to Environmental
disease, which is the number of new cases of a particular
Injuries and/or Genetic Defects
disease that appear in a year, as well as the prevalence,
which is the number of people with a certain disease at The causes of disease can be conceived of as a continuum.
a given moment. For example, in 2009 the incidence of At one end of the continuum are diseases caused solely
new prostate cancers in American men was approximately by environmental injury. At the opposite end are those
192,000 cases. The prevalence of prostate cancer in Ameri- caused solely by our genetic makeup. In the middle are
can men was about 1.5%; that is, somewhat more than 1 the majority of diseases, those resulting from some com-
in every 100 men had a history of prostate cancer. The bination of the two.
morbidity rate is the number of people with an illness
or complication of an illness and can be stated as either Environmental Injuries
incidence or prevalence. The mortality rate is the number The term injuries typically brings to mind physical trauma
of people dying from a particular disease in a particular (burns, broken bones, etc.). But toxic molecules––from
period of time. chemical poisonings to molecules released by infectious
Epidemiological methods are also used to identify organisms––also commonly cause injuries. Cancer is also
factors that may increase an individual’s likelihood of due to molecular injury: all cancers originate from dam-
developing a specific disease. These factors are known as aged DNA. Such injurious forces are environmental fac-
risk factors. For example, careful population studies have tors; that is, they arise from the world in which we live.
revealed that cigarette smoking is a risk factor for heart As we discuss below, our genetic makeup, age, gender,
disease, and use of oral contraceptives is a risk factor for nutrition, and other factors can play a role in how we
cervical cancer after five years of use. In contrast, protec- respond to injurious forces.
tive factors are those that decrease risk. Engaging in regu-
lar physical activity is a protective factor in heart disease.
In addition, an epidemiologist may study a group of pa- Genetic Defects
tients with a particular disease to determine what happens A genetic defect can be the sole cause of disease, such as
to them over time. This type of study helps epidemiolo- cystic fibrosis, hemophilia, or sickle cell anemia. One of
gists establish a prognosis—the probability of recovery, the most common genetic disorders is red–green color-
death, or another outcome, for a disease. Probabilities are blindness, which affects fully 7% of all males and is due
statistical likelihoods, and are often expressed as percent- to a defect in a clearly identified single gene. But most
ages. For example, the prognosis for many cancers is the single gene (monogenic) diseases are rare. Diseases
percentage of patients expected to survive for a period of caused by the interaction of multiple genes (polygenic)
five, ten, or twenty years. are much more common, much less visible, and much
more difficult to study. Not only certain diseases, but
most human characteristics (traits) are polygenic. Hair
and eye color, height, weight, intelligence, and facial
Pop Quiz features are examples. Important though they are, it is
1.5 What is the scientific name for the very difficult to identify the individual genes that make
cause of a disease? up the combination influencing, for example, intel-
ligence. We don’t know if it is closer to 100 or 1,000
1.6 What is the scientific name for a structural genes, much less which genes are responsible and what
abnormality of disease? role each plays. (See The Clinical Side, “The New Age of
Personal Genomics.”)
Chapter 1 • Health and Disease 7
Healthy Normal
test
Sick Abnormal
test
Figure 1.3 Healthy or sick, normal or abnormal, and how they combine. A. All patients are either healthy or sick. B. All measurements (tests)
are either normal or abnormal. C. Some healthy patients have abnormal test results, and some sick patients have normal test results.
are averaged to determine the mean (average). Statistical (average) and standard deviations are calculated for the
formulas are also applied to the data to determine the group. If the average glucose in our group is 90 mg/dL, and
standard deviation, a measure of the degree of natural one standard deviation (SD) is 10 mg/dL, then the normal
variability of results; that is, the degree of variation from range for fasting blood glucose levels would be from 90
one normal person to another. When test results cluster minus 20 to 90 plus 20, or 70 to 110 mg/dL, as shown in
tightly around the mean, the standard deviation is small. Figure 1.4.
The test results for blood calcium levels, for example,
have a small standard deviation because the body tightly Positive versus Negative Results
controls blood calcium, and levels vary little from one When referring to tests for a particular disease, results
person to another. On the other hand, when test results are often referred to as positive if abnormal and negative if
are widely scattered above and below the mean, as they are normal. The presumption is that positive suggests disease
with blood glucose levels, the standard deviation is large. may be present, while negative suggests it is not. Presum-
To accommodate the natural variability of test results, ing we know by other methods whether the patient is sick
epidemiologists use the mean and standard deviation or well, test results for a particular disease are referred to
to establish a normal range. By widespread agreement, as true positive if the test is positive and the patient actu-
the lower limit of the normal range is always set at two ally has the disease. Conversely, the test is referred to as
standard deviations below the mean, and the upper false positive if the test is positive but the patient does
limit is set at two standard deviations above the mean. not have the disease. That is to say, a true positive test
A graphic display of a hypothetical normal range study
for blood glucose is shown in Figure 1.4. When normal
is defined this way, the lowest 2.5% and highest 2.5% of
results in presumably healthy persons are so far from the Mean
particular blood glucose level
Number of people with a
Table 1.1 Test Results: True and False Positive; True and False Negative
Normal Test Abnormal Test
HEALTHY Healthy patient with normal test result: Healthy patient with abnormal test result:
True negative False positive
Example: People without Normal fasting blood glucose level: High fasting blood glucose level: Perhaps
diabetes Diagnosis—no diabetes patient not really fasting
SICK Sick patient with normal test result: Sick patient with abnormal test result:
False negative True positive
Example: People with untreated Normal fasting blood glucose level: High fasting blood glucose level:
diabetes Perhaps lab error Diagnosis—diabetes
many false positives but few false negatives. By contrast, presumably healthy women; it is, however, very useful to
having a personal observer at home is much more specific distinguish the true-positive smears (women with cancer)
but it is less sensitive. Rarely would an observer in the from the false-positive smears (women without cancer).
house falsely accuse someone of being a burglar unless
they were unknown or unwelcome, but if the observer is Remember This! Test first with highly sensitive
out working in the back garden, then a burglar might not tests; retest positives with highly specific tests.
be detected.
Given that both sensitive and specific tests have draw-
Tests Vary in Their Predictive Value
backs, which type of test does a clinician choose, and
why? In the diagnostic process, the most effective strategy The purpose of testing is to determine who has disease and
is this: first use a very sensitive test, and then follow up on who does not. The best test has high predictive value; that
patients who test positive by administering a very specific is, it accurately predicts who has and who does not have
test. This is precisely the strategy used in many types of disease. Highly sensitive tests tend to have a lot of false
cancer screening. For example, sexually active women are positives, but very few false negatives. Therefore, a nega-
routinely screened for cervical cancer using a Pap smear, tive result in a highly sensitive test has high predictive value.
which is a highly sensitive test; that is, it misses very few Highly specific tests tend to have a lot of false negatives, but
cases of cervical cancer (Fig. 1.5). A Pap smear is inex- few false positives. Therefore, a positive result in a highly spe-
pensive, painless, and minimally invasive. The clinician cific test has high predictive value. Another way to say this is
collects a sample of cervical cells in a matter of seconds that if a test has many true positives and few false positives,
during a woman’s routine pelvic exam. Nevertheless, the predictive value of a positive test is high. Likewise, if a
because it is highly sensitive, Pap smear screening will test has a great number of true negatives and few false nega-
result in false positives. So a diagnosis of—and treatment tives, the predictive value of a negative test is high.
for—cervical cancer is not yet warranted for those women For example, cardiac troponin I, a heart muscle protein
who test positive. Instead, these women undergo a sec- that increases in blood as a result of a heart attack, nor-
ond, highly specific test, a tissue biopsy. This second test mally circulates in blood in small amounts. Therefore, in a
is more invasive, more painful, more time consuming, and patient with chest pain and possible heart attack, increased
more expensive, so it is not practical as a screening test for cardiac troponin I is considered a positive test for cardiac
Biopsy
Negative Diagnosis:
test Cancer
Resmear
in one
year
= Cervical cancer
= No cancer
False negative
Figure 1.5 Test sensitivity and specificity in the search for cancer of the cervix. To detect cancer of the cervix, first use a highly sensitive test,
the Pap smear, which is not likely to miss many cancers. Those who test positive by Pap smear are further investigated by cervical biopsy, a more
specific test. Those who tested negative by Pap smear are retested by Pap smear the next year, which will likely identify false negatives missed on
the first smear.
Chapter 1 • Health and Disease 13
muscle damage and a reliable sign of a heart attack. Normal because among such patients there are many having a
levels of cardiac troponin I suggest no cardiac muscle dam- heart attack. Therefore, in an emergency room population,
age has occurred and the cause of the pain must be found a positive result is much more likely to be truly positive.
elsewhere. Diagnostic use of cardiac troponin I as a tool to In medical diagnostic terms, a positive test is more likely
predict the presence or absence of heart muscle damage to be truly positive (to have a high predictive value; to be a
has shown that most patients with abnormally high cardiac correct indication of disease) if there are a lot of people in
troponin I have heart muscle damage. Conversely, the great the tested population who have the disease; that is, if the
majority of patients with normal cardiac troponin I do not prevalence of disease is high in the tested population.
have heart muscle damage. Thus, the predictive value of
cardiac troponin I as an indicator of the presence or ab-
sence of heart muscle damage is high for both positive and
negative tests, making cardiac troponin I a very widely used Case Notes
diagnostic test when heart muscle damage is suspected. 1.7 Is the prevalence of meningitis likely to be
As discussed above, the degree of test abnormality is low or high in a group of infants with a tense,
important—the greater the abnormality, the more likely is bulging fontanel?
it that the result correctly suggests that disease is present.
This means that a patient with very high cardiac troponin
I is much more likely to have heart muscle damage (and
more extensive damage) than is a patient with mildly el-
evated cardiac troponin I. Pop Quiz
Disease Prevalence Influences a Test’s 1.13 True or false? All sick patients will
Usefulness have at least one abnormal test.
How well a test performs (whether it has high or low 1.14 What percentage of the test results in
predictive value) depends to a surprising degree on how healthy people fall within the mean plus
many cases exist (the prevalence) in the group being and minus two standard deviations?
tested. For example, consider the cardiac troponin I test 1.15 The ability of a test to be positive in the
just mentioned. The number of people having an acute presence of disease is __________.
heart attack is near zero among asymptomatic persons
entering a shopping mall. Any positive test in such a 1.16 True or false? The best testing strategy is to
group is very likely a false positive. On the other hand, start with highly sensitive tests and follow
the same test will be much more useful if performed in pa- with highly specific ones.
tients who present with chest pain to an emergency room
Reviewing this case gives us an opportunity to review can be a complication of ear infection, the nurse also
many of the terms and concepts covered in this checked the flexibility of Anne’s neck and the softness
chapter. of her anterior fontanel. Both were normal; that
Anne’s primary symptom on her first visit was is, they were negative tests. After examination the
pain, which she “reported” (through her mother) by nurse practitioner concluded that the diagnosis was
crying and tugging on her ear. The nurse practitioner acute bacterial infection of the left middle ear (otitis
examined Anne and found the following signs, media) with perforation of the tympanic membrane.
each of which can be thought of as a positive test: The initial etiology was acute viral upper respiratory
elevated temperature, runny nose and crusted infection. The pathogenesis was swelling and mucus
nostrils, perforated left eardrum, and pus in the obstruction of the eustachian tube (abnormal form),
external auditory canal. Knowing that meningitis which caused accumulation of fluid in the left middle
(continued)
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DANCE ON STILTS AT THE GIRLS’ UNYAGO, NIUCHI
I see increasing reason to believe that the view formed some time
back as to the origin of the Makonde bush is the correct one. I have
no doubt that it is not a natural product, but the result of human
occupation. Those parts of the high country where man—as a very
slight amount of practice enables the eye to perceive at once—has not
yet penetrated with axe and hoe, are still occupied by a splendid
timber forest quite able to sustain a comparison with our mixed
forests in Germany. But wherever man has once built his hut or tilled
his field, this horrible bush springs up. Every phase of this process
may be seen in the course of a couple of hours’ walk along the main
road. From the bush to right or left, one hears the sound of the axe—
not from one spot only, but from several directions at once. A few
steps further on, we can see what is taking place. The brush has been
cut down and piled up in heaps to the height of a yard or more,
between which the trunks of the large trees stand up like the last
pillars of a magnificent ruined building. These, too, present a
melancholy spectacle: the destructive Makonde have ringed them—
cut a broad strip of bark all round to ensure their dying off—and also
piled up pyramids of brush round them. Father and son, mother and
son-in-law, are chopping away perseveringly in the background—too
busy, almost, to look round at the white stranger, who usually excites
so much interest. If you pass by the same place a week later, the piles
of brushwood have disappeared and a thick layer of ashes has taken
the place of the green forest. The large trees stretch their
smouldering trunks and branches in dumb accusation to heaven—if
they have not already fallen and been more or less reduced to ashes,
perhaps only showing as a white stripe on the dark ground.
This work of destruction is carried out by the Makonde alike on the
virgin forest and on the bush which has sprung up on sites already
cultivated and deserted. In the second case they are saved the trouble
of burning the large trees, these being entirely absent in the
secondary bush.
After burning this piece of forest ground and loosening it with the
hoe, the native sows his corn and plants his vegetables. All over the
country, he goes in for bed-culture, which requires, and, in fact,
receives, the most careful attention. Weeds are nowhere tolerated in
the south of German East Africa. The crops may fail on the plains,
where droughts are frequent, but never on the plateau with its
abundant rains and heavy dews. Its fortunate inhabitants even have
the satisfaction of seeing the proud Wayao and Wamakua working
for them as labourers, driven by hunger to serve where they were
accustomed to rule.
But the light, sandy soil is soon exhausted, and would yield no
harvest the second year if cultivated twice running. This fact has
been familiar to the native for ages; consequently he provides in
time, and, while his crop is growing, prepares the next plot with axe
and firebrand. Next year he plants this with his various crops and
lets the first piece lie fallow. For a short time it remains waste and
desolate; then nature steps in to repair the destruction wrought by
man; a thousand new growths spring out of the exhausted soil, and
even the old stumps put forth fresh shoots. Next year the new growth
is up to one’s knees, and in a few years more it is that terrible,
impenetrable bush, which maintains its position till the black
occupier of the land has made the round of all the available sites and
come back to his starting point.
The Makonde are, body and soul, so to speak, one with this bush.
According to my Yao informants, indeed, their name means nothing
else but “bush people.” Their own tradition says that they have been
settled up here for a very long time, but to my surprise they laid great
stress on an original immigration. Their old homes were in the
south-east, near Mikindani and the mouth of the Rovuma, whence
their peaceful forefathers were driven by the continual raids of the
Sakalavas from Madagascar and the warlike Shirazis[47] of the coast,
to take refuge on the almost inaccessible plateau. I have studied
African ethnology for twenty years, but the fact that changes of
population in this apparently quiet and peaceable corner of the earth
could have been occasioned by outside enterprises taking place on
the high seas, was completely new to me. It is, no doubt, however,
correct.
The charming tribal legend of the Makonde—besides informing us
of other interesting matters—explains why they have to live in the
thickest of the bush and a long way from the edge of the plateau,
instead of making their permanent homes beside the purling brooks
and springs of the low country.
“The place where the tribe originated is Mahuta, on the southern
side of the plateau towards the Rovuma, where of old time there was
nothing but thick bush. Out of this bush came a man who never
washed himself or shaved his head, and who ate and drank but little.
He went out and made a human figure from the wood of a tree
growing in the open country, which he took home to his abode in the
bush and there set it upright. In the night this image came to life and
was a woman. The man and woman went down together to the
Rovuma to wash themselves. Here the woman gave birth to a still-
born child. They left that place and passed over the high land into the
valley of the Mbemkuru, where the woman had another child, which
was also born dead. Then they returned to the high bush country of
Mahuta, where the third child was born, which lived and grew up. In
course of time, the couple had many more children, and called
themselves Wamatanda. These were the ancestral stock of the
Makonde, also called Wamakonde,[48] i.e., aborigines. Their
forefather, the man from the bush, gave his children the command to
bury their dead upright, in memory of the mother of their race who
was cut out of wood and awoke to life when standing upright. He also
warned them against settling in the valleys and near large streams,
for sickness and death dwelt there. They were to make it a rule to
have their huts at least an hour’s walk from the nearest watering-
place; then their children would thrive and escape illness.”
The explanation of the name Makonde given by my informants is
somewhat different from that contained in the above legend, which I
extract from a little book (small, but packed with information), by
Pater Adams, entitled Lindi und sein Hinterland. Otherwise, my
results agree exactly with the statements of the legend. Washing?
Hapana—there is no such thing. Why should they do so? As it is, the
supply of water scarcely suffices for cooking and drinking; other
people do not wash, so why should the Makonde distinguish himself
by such needless eccentricity? As for shaving the head, the short,
woolly crop scarcely needs it,[49] so the second ancestral precept is
likewise easy enough to follow. Beyond this, however, there is
nothing ridiculous in the ancestor’s advice. I have obtained from
various local artists a fairly large number of figures carved in wood,
ranging from fifteen to twenty-three inches in height, and
representing women belonging to the great group of the Mavia,
Makonde, and Matambwe tribes. The carving is remarkably well
done and renders the female type with great accuracy, especially the
keloid ornamentation, to be described later on. As to the object and
meaning of their works the sculptors either could or (more probably)
would tell me nothing, and I was forced to content myself with the
scanty information vouchsafed by one man, who said that the figures
were merely intended to represent the nembo—the artificial
deformations of pelele, ear-discs, and keloids. The legend recorded
by Pater Adams places these figures in a new light. They must surely
be more than mere dolls; and we may even venture to assume that
they are—though the majority of present-day Makonde are probably
unaware of the fact—representations of the tribal ancestress.
The references in the legend to the descent from Mahuta to the
Rovuma, and to a journey across the highlands into the Mbekuru
valley, undoubtedly indicate the previous history of the tribe, the
travels of the ancestral pair typifying the migrations of their
descendants. The descent to the neighbouring Rovuma valley, with
its extraordinary fertility and great abundance of game, is intelligible
at a glance—but the crossing of the Lukuledi depression, the ascent
to the Rondo Plateau and the descent to the Mbemkuru, also lie
within the bounds of probability, for all these districts have exactly
the same character as the extreme south. Now, however, comes a
point of especial interest for our bacteriological age. The primitive
Makonde did not enjoy their lives in the marshy river-valleys.
Disease raged among them, and many died. It was only after they
had returned to their original home near Mahuta, that the health
conditions of these people improved. We are very apt to think of the
African as a stupid person whose ignorance of nature is only equalled
by his fear of it, and who looks on all mishaps as caused by evil
spirits and malignant natural powers. It is much more correct to
assume in this case that the people very early learnt to distinguish
districts infested with malaria from those where it is absent.
This knowledge is crystallized in the
ancestral warning against settling in the
valleys and near the great waters, the
dwelling-places of disease and death. At the
same time, for security against the hostile
Mavia south of the Rovuma, it was enacted
that every settlement must be not less than a
certain distance from the southern edge of the
plateau. Such in fact is their mode of life at the
present day. It is not such a bad one, and
certainly they are both safer and more
comfortable than the Makua, the recent
intruders from the south, who have made USUAL METHOD OF
good their footing on the western edge of the CLOSING HUT-DOOR
plateau, extending over a fairly wide belt of
country. Neither Makua nor Makonde show in their dwellings
anything of the size and comeliness of the Yao houses in the plain,
especially at Masasi, Chingulungulu and Zuza’s. Jumbe Chauro, a
Makonde hamlet not far from Newala, on the road to Mahuta, is the
most important settlement of the tribe I have yet seen, and has fairly
spacious huts. But how slovenly is their construction compared with
the palatial residences of the elephant-hunters living in the plain.
The roofs are still more untidy than in the general run of huts during
the dry season, the walls show here and there the scanty beginnings
or the lamentable remains of the mud plastering, and the interior is a
veritable dog-kennel; dirt, dust and disorder everywhere. A few huts
only show any attempt at division into rooms, and this consists
merely of very roughly-made bamboo partitions. In one point alone
have I noticed any indication of progress—in the method of fastening
the door. Houses all over the south are secured in a simple but
ingenious manner. The door consists of a set of stout pieces of wood
or bamboo, tied with bark-string to two cross-pieces, and moving in
two grooves round one of the door-posts, so as to open inwards. If
the owner wishes to leave home, he takes two logs as thick as a man’s
upper arm and about a yard long. One of these is placed obliquely
against the middle of the door from the inside, so as to form an angle
of from 60° to 75° with the ground. He then places the second piece
horizontally across the first, pressing it downward with all his might.
It is kept in place by two strong posts planted in the ground a few
inches inside the door. This fastening is absolutely safe, but of course
cannot be applied to both doors at once, otherwise how could the
owner leave or enter his house? I have not yet succeeded in finding
out how the back door is fastened.