Anatomy and Disease~Common Diagnostics

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    Anatomy and Disease

    The human body is remarkably well designed. Most of its organs have a great deal of extra capacity or

    reserve: They can still function adequately even whendamaged. For example, more than two thirds of the liver

    must be destroyed before serious consequences occur, and a

    person can usually live with only one lung or kidney.

    Other organs can tolerate little damage before theymalfunction and symptoms occur. For example, if an artery

    in the brain becomes blocked or ruptures (stroke) and even a

    small amount of tissue in a vital part of the brain is destroyed,a person may be unable to speak, move a limb, or maintain

    balance. If a heart attack destroys a small amount of tissue in

    the part of the heart that creates or carries the signals to beat,

    the heart rate may become dangerously slow and the person

    may even die.

    Disease often affects anatomy, and changes in anatomycan cause disease. If the blood supply to a tissue is

    blocked or cut off, the tissue dies (infarction), as in a

    heart attack (myocardial infarction) or stroke (cerebral

    infarction). An abnormal heart valve can cause heart

    malfunction. Trauma to the skin may damage its ability

    to act as a barrier, which may lead to infection.

    Abnormal growths, such as cancer, can directly destroy

    normal tissue or produce pressure that ultimatelydestroys it.

    Because of the relationship between disease andanatomy, methods of seeing into the body have become

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    a mainstay in the diagnosis and treatment of disease.

    The first breakthrough came with x-rays, which enabled

    doctors to see into the body and examine internal

    structures without surgery. Another major advance was

    computed tomography (CT), in which x-rays are linkedwith computers. A CT scan produces detailed cross-

    sectional (two-dimensional) images of the body's

    interior.

    Other methods of producing images of internalstructures include ultrasound scanning, which uses

    sound waves; magnetic resonance imaging (MRI),

    which uses the movement of atoms in a magnetic field;

    and radionuclide imaging, which uses radioactive

    chemicals injected into the body. These are noninvasive

    ways to see into the body, in contrast to surgery, which

    is an invasive procedure.

    Common Medical Tests

    A large number of tests are widely availableMany tests are specialized for a particular disease

    or group of related diseases

    Generally, specialized tests are described with theappropriate diseases. However, other tests are

    used commonly for a wide range of diseases

    Tests are performed for a variety of reasons,including screening, diagnosing a disease,

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    evaluating the severity of a disease so that

    treatment can be planned, and monitoring the

    response to treatment

    Sometimes, a test may be used for more than onepurpose. A blood test may reveal that a person has

    too few red blood cells (anemia), and then the

    same test may be repeated after treatment to check

    that the number of red blood cells has returned to

    normal

    In some instances, a condition can be treated atthe same time a screening or diagnostic test is

    performed. For example, when colonoscopy, a test

    in which a flexible viewing tube is used to

    examine the inside of the large intestine, reveals

    growths (polyps), they can be removed before

    colonoscopy is completed

    Types of Tests

    Medical tests generally fall into one of six categories: analysis ofbody fluids,

    imaging tests, endoscopy,measurement of body functions,

    biopsy, and

    analysis of genetic material in cells analysis of body fluids

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    In many instances, the lines that separate thecategories become blurred. For example, endoscopy

    of the stomach enables the examiner to view the inside

    of the stomach as well as obtain tissue samples for

    examination in a laboratory.

    Analysis of body fluids: most often consists of tests of the blood,

    urine, and fluid that surrounds the spinal cord and brain

    (cerebrospinal fluid). Less often, fluids such as sweat and saliva

    and fluid from the digestive tract (for example, gastric juices) are

    analyzed.

    Sometimes, the fluids analyzed are present only if a disease ispresent, such as when fluid collects in the abdomen (ascites) or in

    the space between the two membranes covering the lungs (pleural

    effusion).

    Imaging: consists of tests that provide a picture of the inside of the

    body, either in its entirety or only of certain parts. Ordinary x-rays

    are the most common imaging tests, but others include ultrasound,

    radioisotope (nuclear) scans, computed tomography (CT) scans,magnetic resonance imaging (MRI) scans, and positron emission

    tomography (PET) scans.

    Endoscopy: is the use of a viewing tube to directly observe the

    inside of body organs or spaces (cavities). Most often, the

    endoscope is flexible, although a few types are rigid. The tip of the

    endoscope is usually equipped with a light and a camera, so images

    can be seen on a television monitor while the examiner is

    observing through the endoscope. Tools are often passed through achannel in the endoscope. One type of tool is used to cut and

    remove tissue samples.

    Endoscopy usually consists of passing the viewing tube through an

    existing body opening. For example, esophagogastroduodenoscopy

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    (EGD) is accomplished by passing a viewing tube through the

    mouth. Colonoscopy involves passing a viewing tube through the

    anus. However, sometimes an opening in the body must be created.

    This can be done by making a small cut (incision) through the skin

    and through layers of tissue beneath the skin, so that the endoscopecan be passed into a body cavity. For example, in arthroscopy, an

    endoscope is passed through an incision to view a joint, such as the

    knee or shoulder.

    Measurement of body functions: often involves recording and

    analyzing the activity of various body organs. For example,

    electrical activity of the heart is measured with electrocardiography

    (ECG), and electrical activity of the brain is measured withelectroencephalography (EEG).

    Biopsy: involves removing tissue samples and examining them,

    usually with a microscope. The examination often focuses on

    finding abnormal cells that might provide evidence of

    inflammation or of a disease, such as cancer. Tissues that are

    commonly examined include skin, breast, lung, liver, kidney, and

    bone.

    Analysis of genetic material: usually involves testing cells from

    skin, blood, or bone marrow. Genetic testing consists of an

    examination for abnormalities of chromosomes, genes, or both.

    Examination of genes includes analysis of DNA. Fetuses may

    undergo genetic testing to determine whether they have a genetic

    disorder. Children and young adults often undergo genetic testing

    to determine whether they themselves have a disease or are at risk

    of a disease. Adults sometimes undergo genetic testing to help

    determine the likelihood that their relatives, such as children or

    grandchildren, will develop certain diseases.

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    Risks and Results

    Every test has some risk The risk may be only the need for further testing if the

    result is abnormal, or it may be the possibility of injuryduring the test

    Doctors weigh the risk of a test against the usefulnessof the information it will provide

    Normal test result values are expressed as a range, which is based

    on the average values in a healthy population; 95% of healthy

    people have values within this range, but average values are

    slightly different for women and men and also may vary by age.

    These values also vary somewhat among laboratories.

    Blood Tests

    Test Reference Range/Threshold

    (Conventional Units)

    Acidity (pH) 7.35-7.45

    Alcohol (ethanol) 0 mg/dL (more than 0.1 mg/dLusually indicates intoxication)

    Ammonia 15-50 units/L

    Amylase 53-123 units/L

    Antinuclear antibodies (ANA;

    other antibodies can also be

    identified)

    0 (negative result)

    Ascorbic acid 0.4-1.5 mg/dL

    Bicarbonate (carbon dioxidecontent)

    18-23 mEq/L

    Bilirubin Direct: up to 0.4 mg/dL

    Total: up to 1.0 mg/dL

    Blood volume 8.5-9.1% of body weight

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    Calcium 8.5-10.5 mg/dL (slightly higher

    in children)

    Carbon dioxide pressure

    (expressed as a comparison

    with how high the level of

    mercury [Hg] rises in a tube

    due to air pressure at sea

    level)

    35-45 mm Hg

    Carboxyhemoglobin (carbon

    monoxide in hemoglobin)

    Less than 5% of total

    hemoglobin

    CD4 cell count 500-1500 cells/L

    Ceruloplasmin 15-60 mg/dL

    Chloride 98-106 mEq/L

    Complete blood cell count

    (CBC)

    See individual tests:

    Hemoglobin, hematocrit, mean

    corpuscular hemoglobin, mean

    corpuscular hemoglobin

    concentration, mean corpuscular

    volume, platelet count, white

    blood cell count

    Copper 70-150 g/dLCreatine kinase (CK or CPK) Male: 38-174 units/L

    Female: 96-140 units/L

    Creatine kinase isoenzymes 5% MB or less

    Creatinine 0.6-1.2 mg/dL

    Electrolytes See individual tests: Electrolytes

    routinely tested include calcium,

    chloride, magnesium, potassium,

    and sodium

    Erythrocyte sedimentation

    rate (ESR)

    Male: -13 mm/hr

    Female: 1-20 mm/hr

    Glucose Fasting: 70-110 mg/dL

    Hematocrit Male: 45-52%

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    Female: 37-48%

    Hemoglobin Male: 13-18 gm/dL

    Female: 12-16 gm/dL

    Iron 60-160 g/dL (higher in males)

    Iron-binding capacity 250-460 g/dL

    Lactate (lactic acid) Venous: 4.5-19.8 mg/dL

    Arterial: 4.5-14.4 mg/dL

    Lactic dehydrogenase 50-150 units/L

    Lead 20 g/dL or less (much lower in

    children)

    Lipase 10-150 units/L

    Lipids:Cholesterol Less than 225 mg/dL (for age

    40-49 yr; increases with age)

    High-density lipoprotein

    (HDL)

    30-70 mg/dL

    Low-density lipoprotein

    (LDL)

    60 mg/dL

    Triglycerides 40-200 mg/dL (higher in males)

    Triglycerides 40-200 mg/dL (higher in males)Liver function tests Include bilirubin (total),

    phosphatase (alkaline), protein

    (total and albumin),

    transaminases (alanine and

    aspartate), prothrombin

    Magnesium 1.5-2.0 mg/dL

    Mean corpuscular hemoglobin

    (MCH)

    27-32 pg/cell

    Mean corpuscular hemoglobin

    concentration (MCHC)

    32-36% hemoglobin/cell

    Mean corpuscular volume

    (MCV)

    76-100 cu m

    Osmolality 280-296 mOsm/kg plasma

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    Oxygen pressure (expressed as

    a comparison with how high

    the level of mercury [Hg] rises

    in a tube due to air pressure at

    sea level)

    83-100 mm Hg

    Oxygen saturation (arterial) 96-100%

    Phosphatase (alkaline) 50-160 units/L (higher in infants

    and adolescents, lower in

    females)

    Phosphorus 3.0-4.5 mg/dL

    Platelet count 150,000-350,000/mL

    Potassium 3.5-5.0 mEq/L

    Prostate-specific antigen

    (PSA)

    0-4 ng/mL (increases with age)

    Protein:

    Total 6.0-8.4 gm/dL

    Albumin 3.5-5.0 gm/dL

    Globulin 2.3-3.5 gm/dL

    Prothrombin time (PT) 10-13 seconds

    Red blood cell (RBC) count 4.2-5.9 million/mLSodium 135-145 mEq/L

    Thyroid-stimulating hormone

    (TSH)

    0.5-5.0 m units/L

    Transaminase:

    Alanine (ALT) 1-21 units/L

    Aspartate (AST) 7-27 units/L

    Troponin:

    I Less than 1.6 ng/mLT Less than 0.1 ng/mL

    Urea nitrogen (BUN) 7-18 mg/dL

    Uric acid 3.0-7.0 mg/dL

    Vitamin A (other vitamins can

    also be measured)

    30-65 g/dL

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    White blood cell (WBC) count 4,300-10,800 /mL*Blood can be tested for many other substances as well.

    Units are explained in Appendix I. Conventional units can be

    converted to international units by using a conversion factor.International units (IU), a different system, is sometimes used by

    laboratories.

    Diagnostic Procedures

    Procedure Body Area or

    Sample

    Tested

    Description

    Amniocentesis Fluid from the

    sac

    surrounding

    the fetus

    Analysis of fluid to

    detect an

    abnormality in the

    fetus

    Arteriography(angiography) Any artery inthe body;

    commonly in

    the brain,

    heart,

    kidneys,

    aorta, or legs

    X-ray study inwhich radiopaque

    dye is used to

    detect and outline

    or highlight a

    blockage or defect

    of an artery

    Audiometry Ears Assessment of the

    ability to hear and

    distinguish sounds

    at specific pitches

    and volumes

    Auscultation Heart Listening with a

    stethoscope for

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    abnormal heart

    sounds

    Barium x-ray studies Esophagus,

    stomach,

    intestine,rectum

    X-ray study to

    detect ulcers,

    tumors, or otherabnormalities

    Biopsy Any tissue in

    the body

    Removal and

    examination of

    tissue sample under

    a microscope for

    cancer or another

    abnormality

    Blood pressuremeasurement

    Usually anarm

    Test for high or lowblood pressure

    Blood tests Usually a

    blood sample

    from an arm

    Measurement of

    substances in the

    blood to evaluate

    organ function and

    to help diagnose

    and monitor

    various disordersBone marrow aspiration Hipbone or

    breastbone

    Examination of

    marrow under a

    microscope for

    abnormalities of

    blood cells

    Bronchoscopy Airways of

    the lungs

    Direct examination

    for a tumor or other

    abnormalityCardiac catheterization Heart Study of heart

    function and

    structure

    Chorionic villus sampling Placenta Examination of a

    sample under a

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    microscope for an

    abnormality in the

    fetus

    Chromosomal analysis Blood Examination under

    a microscope todetect a genetic

    disease or to

    determine a fetus's

    sex

    Colonoscopy Large

    intestine

    Direct examination

    for a tumor or other

    abnormality

    Computed tomography(CT)

    Any part ofthe body

    Computer-enhanced x-ray

    study to detect

    structural

    abnormalities

    Cone biopsy Cervix Removal and

    examination of a

    cone-shaped piece

    of tissueCulture Sample from

    any area of

    the body

    (usually a

    fluid such as

    blood or

    urine)

    Examination of

    microorganisms

    grown from a

    sample to identify

    infection with

    bacteria or fungi

    Dilation and curettage (Dand C)

    Cervix anduterus

    Examination of asample under a

    microscope for an

    abnormality of the

    uterine lining

    Dual X-ray absorptiometry Skeleton, Study of thickness

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    (DEXA) focusing on

    specific

    regions,

    usually hip,

    spine, andwrist

    of bones using a

    type of x-ray

    Echocardiography Heart Study of heart

    structure and

    function using

    sound waves

    Electrocardiography

    (ECG)

    Heart Study of the heart's

    electrical activity

    Electroencephalography(EEG)

    Brain Study of brain'selectrical function

    Electromyography Muscles Recording of a

    muscle's electrical

    activity

    Electrophysiologic testing Heart Test to evaluate

    rhythm or electrical

    conduction

    abnormalitiesEndoscopic retrograde

    cholangiopancreatography

    (ERCP)

    Biliary tract X-ray study of the

    biliary tract after

    injection of a

    radiopaque dye

    using a flexible

    viewing tube to

    reach the biliary

    tractEndoscopy Digestive

    tract

    Direct examination

    of internal

    structures using a

    flexible viewing

    tube

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    Enzyme-linked

    immunosorbent assay

    (ELISA)

    Usually blood The sample is

    mixed with a

    sample of allergens

    or microorganisms

    to test for thepresence of specific

    antibodies

    Fluoroscopy Digestive

    tract, heart,

    lungs

    A continuous x-ray

    study that allows a

    doctor to see the

    inside of an organ

    as it functions

    Hysteroscopy Uterus Direct examinationof the inside of the

    uterus with a

    flexible viewing

    tube

    Intravenous urography Kidneys,

    urinary tract

    X-ray study of the

    kidneys and urinary

    tract after

    intravenousinjection of a

    radiopaque dye

    Joint aspiration Joints

    between

    bones,

    especially

    shoulder,

    elbow,fingers, hips,

    knees, ankles,

    toes

    Examination of

    fluid from the space

    within joints for

    blood cells, crystals

    formed from

    minerals, andknees, organisms

    Laparoscopy Abdomen Direct examination

    for diagnosis and

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    treatment of

    abnormalities in the

    abdomen

    Magnetic resonance

    imaging (MRI)

    Any part of

    the body

    Magnetic imaging

    test for anystructural

    abnormality

    Mammography Breasts X-ray study for

    breast cancer

    Mediastinoscopy Chest Direct examination

    of the area of the

    chest between the

    lungsMyelography Spinal

    column

    Simple or

    computer-enhanced

    x-ray of the spinal

    column after

    injection of a

    radiopaque dye

    Nerve conduction study Nerves Test to determine

    how fast an impulsetravels

    Occult blood test Large

    intestine

    Test to detect blood

    in the stool

    Ophthalmoscopy Eyes Direct examination

    to detect

    abnormalities

    inside the eye

    Papanicolaou (Pap) test Cervix Examination under a microscope of

    cells scraped from

    the cervix to detect

    cancer

    Paracentesis Abdomen Insertion of a

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    needle into the

    abdominal cavity to

    remove fluid for

    examination

    Percutaneous transhepatic

    cholangiography

    Liver, biliarytract

    X-ray study of theliver and biliary

    tract after injection

    of a radiopaque dye

    into the liver

    Positron emission

    tomography (PET)

    Brain and

    heart

    Radioactive

    imaging to detect

    abnormality of

    functionPulmonary function tests Lungs Tests to measure

    the lungs' capacity

    to hold air, to move

    air in and out of the

    body, and to

    exchange oxygen

    and carbon dioxide

    Radionuclide imaging Many organs Radioactiveimaging to detect

    abnormalities of

    blood flow,

    structure, or

    function

    Reflex tests Tendons Tests to detect

    abnormalities of

    nerve functionRetrograde urography Bladder,

    ureters

    X-ray study of the

    bladder and ureters

    after infusion of a

    radiopaque dye

    Sigmoidoscopy Rectum and Direct examination

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    last portion of

    the large

    intestine

    to detect tumors or

    other abnormalities

    Skin allergy tests Usually an

    arm or theback

    Tests for allergies

    Spinal tap (lumbar

    puncture)

    Spinal canal Test for

    abnormalities of

    spinal fluid

    Spirometry Lungs Test of lung

    function that

    involves blowing

    into a measuringdevice

    Stress test (exercise

    tolerance)

    Heart Test of heart

    function with

    exertion

    Thoracentesis The space that

    surrounds the

    lungs (pleural

    space)

    Removal of fluid

    from the chest with

    a needle to detect

    abnormalitiesThoracoscopy Lungs Examination of the

    pleura and the

    pleural space

    through a viewing

    tube

    Tympanometry Ears Measurement of the

    impedance

    (resistance topressure) of the

    middle ear, which

    helps in

    determining the

    cause of hearing

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    loss

    Ultrasonography

    (ultrasound scanning)

    Any part of

    the body

    Ultrasound imaging

    to detect structural

    or functional

    abnormalities

    Urinalysis Kidneys and

    urinary tract

    Chemical analysis

    of urine sample to

    detect protein,

    sugar, ketones, and

    blood cells

    Venography Veins X-ray study to

    detect blockage of a

    vein