2 Diagnosing a Disease Objectives In this chapter we will study * the thought process and procedures involved in clinical ‘© methods used in the physical examination of a patient; ‘= common diagnostic tests performed inthe laboratory common diagnostic tests performed on the living bodys some signs of disease; and ‘© some terms and abbey Medical Diagnosis An chapter 1 of this manual, we examined some characteristics of disease. Now we turn our aitention to some of the ways a clinician diagnoses a disease ‘The word diagnose literally means “to know through"—that is, how a clinician ean know, through ‘examination of the patient's signs and symptoms, ‘what the underlying cause is, This chapter describes some of the processes and medical terminology associated with diagnosis. The Chief Complaint Diseases are sometimes discovered when patients report for routine medical checkups, Some ews are asympfomatic—they do not produce discomfort, Por example, bypetensiot vigh blood pressure) is nicknamed “the silent Killer” because it {ypically does not produce noticeable symptoms until the damage is already extensive, Since a blood pressure measurement is ove of the routine procedures ia medical examination, it may reveal hypertension ‘of which the patient is unaware, Often, however, a patient presents hitn- or herself at a clinie because he or she feels that something is wrong. ‘The patient's primary medical concern is called the chief complaint (CC). When @ CC is ‘dentfied, the search is on for the underlying etiology. The clinician then becomes a medical detective, bent on identifying the culprit so that it can be treated. Diagnosis as Hypothesis Testing ‘The process of diggnosis is an application of the ypothetico-deductive scientific method. The clinician diagnosis; ations for diseases and diagnostic tests formulates hypotheses (“These signs could be causes by...) and then embarks on a search for evidence that either supports oF rules out each hypothesis ‘The first few symptoms the patent reports and the first few signs the clinician observes may lend themselves to multiple interpretations—that is, the cause could be any number of things. For example, the patient may complain of leg pain, This could have 2 mmisculoskeletal, neurological, or cardiovascalar etiology. The elniian’s task isto ask the appropriate questions and observe the appropriate signs to support ‘one ofthese hypotheses and rule out the others. Are the ankles swollen? This could indicete a cardiovascular problem. Do the pation’s joints hurt when he or she moves? This could indicate a musculoskeletal disorder. Does the patient feel pain shooting down the back ofthe lex? This could indicate 4 neurological disorder. ‘The clinician can thn ask further questions during the interview to progressively narrow down the possibiltics: Where is the pain? What is it like? How bad is it? How often does it coceur? How fong does it last? When does it occur Is it worse at night; when the patent is at work; when he or she climbs stairs? What factors make the pain better of worse? Has the pationt tried analgesics or any other remedy for the pain’? Diagnosis, then, is essentially a process of ctimination in which mote and more evidence is gathered, alternative hypotheses are discarded when consisent with the evidence, and eventually a hypothesis emerges. that is ‘supported by the preponderance of evidence.The Process of Diagnosis ‘The diagnostic process is commonly described as having four main steps, although they overlap somewhat, and steps 3 and 4 are not always necessary, 1. Medical History The clinician begins by obtaining and recording the patient's modieal history. This includes identifying data (ame, adress, date of birth, composition, and ocoupati complain; the symptoms and duration ofthe disease, ‘medications or other treatmnts trod so far; a family history (for example, whether any of the patents close relatives have diabetes, heart disease, cance, o high blood pressure); and'a review of the organ systems oer than the one that isthe focus of the complaint Glow is your hearing? Do you have any ‘rouble breathing? How is your digestion? and soon}. An important part of physician traning is the evelopment of good interviewing skis. The physician must be a good listener—able to put the patient at ease, ask the ight questions, think analytically about the patient's responses, and edapt his or her approach o the age, ex, edueation, cultural background, and values ofthe patient 2. Physical Examination ‘After this talk with the patient, the clinician carries ‘outa physical examination that involves inspecting the patient’s body. The physical examination is also called a gross examination because it involves only ‘gross anatomy (that which is visible without magnification). ‘There ure several aspscts to the Physical examination: Vital Signs Before a pationt sces the physician, a nurse typically records tho patient's height, weight, ‘and vilal signs: temperature, heart (pulse) rate, respiratory rate, and blood pressure, The normal ranges of these vital sians are given in the Appendix of Normal Values at the end of this manual. This information is useful not only for assessing the patient's body proportions (whether a patient underweight, overweight, oF obese, for example), but also for determining the proper dosage of s medications. Inspection The clinician makes note of what can be visually observed about the patient. To some ‘extent, this begins during the interview. While taking the history, the clinician can observe the patient's posture, gait, body proportions, and skin cordon (color, texture, and moisture). IF the patent has a medica! complaint, the rolevant area of the body is observed espevialy closely. Palpation The clinician touches or presses on the body surface with the fingertips or palmar surface of the fingers and hands. This procedure provides information about body surface temperature, turgor (irmness of the skin), texture, moisture, shape, and vibrations. ‘There are specifi techniques for properly palpating different regions of the Body, such as the neck, abdomen, breasts, prostate gland, and joints. Percussion The clinician places the distal segment of the middle finger of one hand on an area such as the chest or abdamen and strikes it sharply ‘with the middle fingertip of the other hand. This produces a vibration and sound, Clinicians are trained to recognize five different tones (percussion notes) — called flatness, dullness, resonance, hyperresonance, and tympany—that give information about the density of tissues, accumulations of ai, fui or sear tissue, and other normal and abnormal conditions Auscultation The clinician listens, usually with stethoscope, fo sounds produced by the body, «especially respiratory and cardiae sounds. Qualities to note include the pitch, intensity, and duration of the sound, as well as any added, abnormal sounds such as wheezss oF heart murmurs, ‘As you can see, a thorough physical examination requires the examiner to use his or her senses of vision, hearing, touch, and smell, Tn addition, clinicians use a varity of instruments to eahance theit powers of observation. Resiies the stethoscope, used for istening to sounds of the heart, lungs, and abdominal cavity, these inchide the sphygnomanometer for measuring blood pressure; the ‘otoscope and ophthalmoscope for viewing the inside cof the auditory canal and eye, respectively; the vaginal speculum for examining the vagina and the percussion hammer for testing relexes; and & tuning fork for producing the pure tone used in tests of hearing, The physical examination may provide enough information to diagnose some conditions, but in other cases it only narrows the possibilities to apreliminary diagnosis. Further tests may be required, which leads us to stap 3 3. Laboratory Tests Because medical diagnosis often requires knowledge ‘of the current and rocent physiological activity of the tissues, a very common step in diagnosis is the performance of laboratory tests on fluid or tissue specimens obtained from the patient. It should be roted here that, although the physician may recommend further tests, the patient has the right 10 rofuse to have thom done, No wo fluids are as valuable to diagnosis as blood and urine. For example, if a patient complains of insatiable thirst and hunger anc! Grequent urination, fhe or she seems likely to have digbetes mellitus However, laboratory blood and urine tests are needed to confirm that diagnosis Blood Tests The blood mediates exchanges between nearly all of the body's tissues and the ‘external environment, It has such a central importance that a great range of diseases are diagnosed (or frst discovered, as in the case of asymptomatic diseases) with the aid of data obtained fom the blood. The diagnostic examination of the blood is called clinical hematology, Some blood tests include red cell (RBC), ‘white coll (WBC), and platelet counts; a dforential white coll count (relative numbers of the different classes of white blood cells) the red eel fragiity test; bleating and coagulation (clotting) times; blood gas measuremenis; hormone, enzyme, and cholesterol levels; hemoglobin concentration; ABO and Rh blood typing; and blood urea nitrogen (BUN) level, a measure of how well the kidneys aro clearing metabolic wastes from the blood. ‘A complete blood count (CBC) inchides the total and differential WBC counts, RBC count, hematocrit {percent of the blood composed of RBCs), hemoglobin concentration, and platelet count, A CBC provides valuable information for diagnosing infections, allergies, inflammation, bone marrow ‘eilure, anemia, leukemia, sickle-cell disease, infections ‘mononucleosis, and many other conditions ‘The concentrations of hormones, enzymes, cholesterol, and other blood components are often expressed "in torms of quantities in blood serum. Serum is produced by separating the blood plasma from the cellular components, leiting the plasma 10 coagulate (clot), and then removing the coagulated protein, Urinalysis In ackition to blood work, urinalysis, (UIA) is an important part of routine examinations and diagnostic. sleuthing. Amoog the properties ‘examined in urinalysis are urine color an odor, pH, specific gravity (@ measure of its concentration of solids), and tests for the presence of blood, pus, protein, glucose, sodium chloride, urates, and phosphates. Disease is indicated by the presence of substances that do not normally appear in the uring, such ag protein (proteinuria), blood (hematuria), ketones (keronuria), or pus (pyurta) Other Common Tests Besides blood and urine, other specimens often examined include throat swabs, which are cultured to check for Sirepiococeus Csirep”) or other infectious organisms; sputum, the ‘mixture of rmoeus and other mattor that is coughod or spit up; semen, which is examined for sperm count, sperm motility, and sperm morphology in tests for infertliy; and feces (too! samples), which are ‘examine for parasites or blood (a possible indication of eolen eanoer or polyps). ‘The removal and microscopic examination of living tissue from a patient is called biopsy. A relatively simple and. common biopsy is the Pap smear, in which cells ere scraped from the utexine cetvix "and examined for signs of cervical cancet: A shave biopsy (skin serapings) may be used to diagnose infestations by fongi, mange mite, or other pathogens. Needle biopsy, in which small bits of tissuc are withdrawn through a needle is used to test for muscle diseases and to sample burors to test for malignancy. Aspiration isthe removal of a boxy Muid (liquid Fait) or tissue (bone martow) by suction through a puncture in tho body wall. It is performed either for iagnostic purposes or to relieve pressure and otber pathologic conditions. The sux -centesis devotes a ppneture ofthe body wall made for such purposes as aspiration. Thos, spinocentesis (lumbar puncture, spinal tap) isthe sampling of eeebrospinal fd from 4 mombranous sac below the spinal cord; Ahoracacentess is the aspiration of fuid or aie from the pleural cavtys paracentesis is the aspiration of fluid ftom any body cavity, especially the abdomen; and amniocentesis isthe aspiration of amniotic fad fiom the pregnant uterus, usually to chock for genetic cote in the fetus,4, Tests Performed on the Body Itself Many tests are performed directly on the patient rather thant on materials removed om the body. Among these procedures are medical imaging, endoscopy, and eleesrophysiological techniques, Medical Imaging In the past, it was common to perform exploratory surgery to open the body and take a look inside to determine what was wrong with @ patient. Now, however, this practice has become less common with the invention of several methods of noninvasive imaging, veebniques for obtaining an image of the inside of the body without having to open a body cavity. Other noninvasive methods of imaging are also avzilable, many of them specialized for certain branches of medicine, such as cardiology. Endoscopy Endoscopy is the viewing of the imerior of hollow organ or canal with an endoseope, ‘The endoscope is @ narrow instrument with a light at its tip to illuminate the organ. It may be designed for direct visual examination of the passage, or it may have an opti fiber connected to a video camera and ‘monitor outside the patient. A bronchoscope is an endoscope for examining the bronchial tree of the lungs; a sigmoidoscope is used for inspecting the lower colon; an arthroscope is used tor examining joint cavities; and a laparoscope is an endascope for the abdominal cavity. In addition to simply viewing the interior of an organ, endoscopy is used for biopsies and removing foreign bodies. A number of surgical procedures are now performed by endoscopy, ranging ffom the repair of knoe injuries to lappendestomies, Endoscopic surgery requires only @ few small incisions for the insertion of the endoscope and surgical instruments, Electrophysiological Techniques Nervous and muscular tissues generate electrical currents through their actions, These currents are conducted to the skin surface, where they can be picked up by metal plate electrodes placed on the skin and connected to recording deviee, Three common electrophysiological recording methods are electrocardiography (ECG), the recording of the electrical activity of the heart lectroencephalography (EEG), the recording of electrical brain waves; and "electromyography (EMG), tho recording of electrical activity associated with muscle contraction, Final Diagnosis When sufficient information has been collected, the ideal result is a final diagnosis of the apparent cause ‘of the disease, ‘When the preliminary diagnosis cates that two or more similar diseases may be responsible for a patient's condition, and the choice betwoen them is reached through further testing, the final diagnosis i called a differentia! diagnosis. From the final diagnosis, the clinician can offer a prognosis (the predicted course and outcome of the disease) and formulate a plan of treatment. Terminology of Clinical Conditions, Signs, and Symptoms “The health professions, tke most others, have a specialized vocabulary. Not only mist physicians, fuses, therapists, and other health-care providers be familiar with the common tems and abbreviations used in medicine, but so must poople in other professions, such as medical trancriptionist, ailormeye, and bealth insurance claims analysts, Pablo 2.1 lists "some common word roots, prefixes, and suffixes that denote clinical condition apd thei sigs and symptoms. Becoming faniliar wit the meanings of these word parts will help you not only © remember them but aso to figure oi the meanings of over simile words that you encounter in tho future “able 2.2 lists common abbreviatiots for clinical conditions, and table 23 lists some abbreviations used in pationt records.Table 2.4 Root, Prefix, or Suffix ogre algesia alga -asthenia brady ele esis “eynia pathy penis pobis “peria “plasia Word Elements Denoting Clinical Conditions, Signs, and Symptoms Meaning Intense pain Hernia Pregnancy Pain, ache Abort, ba i Dilation, stretching Yor Fever ‘Above normal Below normal Condition Presenve of acess, condition Tnflawmation Seizure ‘Abnormal sftening ‘Abormal enlargement Tumor ‘Tumnor Condition Increase Slight paralysis Diseass Delicieney Morbid fear eolng, mente state Formation Example and Definition Pellagra Severe vitamin C deficieney) ‘Analgesia (relief from pain) ‘Neuralgia (nerve pain) ‘Myasthenia (muscle weakness) [Bradyeardia (abnormally siow hearbest) Careinoma (naligaant rumor) Omphalocele (rernated umbilicus) Salpingocyesis cuba pregnancy) ‘Odontodynia(totiache) Dyspnea (ifficlty breathing) "Bronchigesss(ditation ofthe bronchi) Hematemesis (voting blood) Febrite (everish) Hypertension (high blood pressure) Hyponatremia (blood sodium deficieney) Arrhythmia Cregular heart rhytam) Cholelithiasis (gallstones) Hypershyroidism (overactive thyroid gland) (Cystitis (ladder inflammation) Narcolepsy (a sleep disonier) Ostecmalacia (softening of bones) Hepatomegaly (enlarged liver) Osteosarcoma (bane tumor) Oncogenic (producing tumors) ‘Thrombosis (sbnormal blood cltting) ‘Levkceytosis (elevated white Blood eell count) remiparess (parla paralysis on ene sie) [Nonropathy (Ciseaso of the nervous sytem) ‘Thrombocytopenia (platelet dticienoy) -Acrophobi (abnormal fear of heights) Eupiori (feeling unusually good) Neoplasia (growth of new tissue) Paralysis ‘Quacriplegia (paralysis ofall four tmbs) Beooming porous Osteoporesis (los o bone issue} Sagging, prolapse —_Hysteroptass (prolapse of ulerus into vagina) Spitting up Heemopiysis pitting up blood) Fovor Antipyretie (fver-reducing drug) Excessive discharge Hemorchage (excessive bloeding) Disebarge, low Amenorrhea (cessation of mensirual periods) “hols Rupiure, split (Cystorrhexis (ruptured urinary bladder) ‘sclerosis. Hardening Avterioscierosis (hardening ofthe sttecies) sep Ingetion ‘Sepsis Gnfetion) sepieo- Infection ‘Soptcemin (bacterie in the blood) “spasm Twitch, cramp Phrenospasm (spasms ofthe diaghragm—biccups) “stenosis Narowing Mitral stenesis (narrowing of heart valve) tach Fast Tachypnea {abnormally rep breathing) (erate ‘Monster, birth defect Teraiogenie (pricing birth defects) soca Childbirth, labor Oxytocin (labo-inducing hormone) 2Table 2.2 Abbreviations for C! AD Alzheimer disease HHVD Hypertensive vaseulardiaeuse AIDS Acquired immunodeficiency syndrome MD — Muscular dystrophy ASHD Atheroselerotic heart disease MI Myocarde! infaretion CA Cancer MS Multiple sclerosis CF Cystic nbrosis OA Osteoarthritis CHP Congestive heart failure PID Polvic inflammatory disease COPD Chronic obstructive pulmonary diseases PKU. Pheaytketoncria CVA Cerebrovascular accident (srake) PMF Progressive massive Stross (of lungs) DM _Disbetes mellitus RA Rheumatoid arthritis DT Delisium temens SIDS Sudden infant death syndvome FUO — Feverof undetermined origin SLE Systemic hypas erytematosus Fe Fracture SOB Shortness of breath GE Gonococeus (gonorshea) STD Sexually transmitted disease GL Gastrointestinal (conditions) TB ‘Tuberoulosis GU Gesitourinary (conditions) TIA Transient ischemic attack HDN Hemolytic disease ofthe newborn URI Upper respiratory infection HIV Haman immunodeficiency virus UTT Urinary tract infection Table 2.3. Abbreviations Used in Medical Records Aap ‘Auscuitaton and percussion Te Medical history BMR Basal metabolic rate 1&0 Intake ard output Be Blood pressure WP Tntravenous pyetograa BUN Blood urea nitrogen LMP. st menstrual period Dx Biopsy NPO [Nothing by mouth (i! per as) ac Complete blood count oy Office visit oR Cardiopulmonary rsuseiation Pura i,2,3° Nomber of ive births CXR Chest X ray PE Physical examination Dac Dilation and curettage plo Postopecative DOA Dead on asival Pro-op Preoperative DOB Date of bint Pt Patient Dx Diagnosis Rom Range of motion of joint FBS Fasting blood sugar Rx ‘Treniment, therapy FH Family history stat, Immediately (atin) cB Galtbiadder Sx Symptoms a Gasteoiatestinal (eonditions) T ‘Temperature ovr ‘Glucose tolerance tet T&A ‘Tonsillectomy ard adenoidectomy cu Genitourinary (conditions) 1% ‘Treatment 1b, gb Hemoglobin WA. Urinalysis HCT Hernatorit vs Vital signs vo History of yfo Year old 3