Differential Diagnosis in Primary Care, 4th Edition

Appendices

Appendix A

The Laboratory Workup of disease

A

Abortion, threatened

serum B–human chorionic gonadothropin (hCG), serum progesterone levels, urine, hCG, pregnanediol, sonogram

Achalasia

barium swallow, mecholyl test, esophagoscopy, and esophageal manometry

Acoustic neuroma

skull x-ray, computed tomography (CT) scan, posterior fossa myelogram, magnetic resonance imaging (MRI)

Acquired Immunodeficiency Syndrome (AIDS)

human immunodeficiency virus (HIV) antibody titer, enzyme-linked immunosorbent assay (ELISA), western blot

Acromegaly

skull x-ray, CT scan, serum growth hormone, MRI

Actinomycosis

smear for sulfur granules, culture skin lesions

Addison disease

serum cortisol before and after corticotrophin, CT scan of abdomen, metapyrapone test

Adrenogenital syndrome

serum cortisol, hydroxyprogesterone, 11-deoxycortisol, urine 17-ketosteroids and pregnanetriol, dexamethasone suppression test, CT scan of the abdomen

Adult respiratory distress syndrome

chest x-ray, sputum culture, blood culture, Swan–Ganz catheterization, arterial blood gases (ABGs)

Agammaglobulinemia

serum electrophoresis and immunoelectrophoresis, blood type, lymph node biopsy, B-lymphocyte and T-lymphocyte counts

Agranulocytosis, idiopathic

complete blood count (CBC), bone marrow examination, spleen scan

AIDS

see Acquired Immunodeficiency Syndrome

Albright syndrome

x-ray of long bones, bone biopsy

Alcaptonuria

urinary homogentisic acid, x-ray of spine

Alcoholism

blood alcohol level, liver function tests, liver biopsy

Aldosteronism, primary

electrolytes before and after spironolactone, plasma renin, 24-hour urine aldosterone, CT scan, exploratory laparotomy

Allergic rhinitis

nasal smear for eosinophils, serum immunoglobulin E (IgE) antibody, radioallergosorbent test (RAST), skin test

Alveolar proteinosis

luteinizing hormone (LH), sputum for periodic acid-Schiff-positive material (PSP), lung biopsy

Alzheimer disease

CT scan or MRI

Amebiasis

stool for ova and parasites, rectal biopsy, hemagglutinin inhibition test

Amyloidosis

Congo red test, rectal biopsy, liver biopsy, gingival biopsy, subcutaneous fat aspiration and stain

Angina pectoris

graded exercise tolerance test (GXT), thallium 201 scintigraphy, coronary angiogram, trial of nitroglycerin

Angineurotic edema

C'1 esterase inhibitor

Ankylosing spondylitis

human leukocyte antigen (HLA) B-27 tissue antigen

Anthrax

smear and culture of lesion, skin biopsy, serologic test

Antitrypsin deficiency

serum protein electrophorosis

Aortic aneurysm

sonogram, CT scan, aortogram

Aortic valvular disease

echocardiogram, CT scan, MRI, cardiac catheterization

Appendicitis

CBC, flat plate of abdomen, CT scan

Aplastic anemia

bone marrow, lymph node biopsy, immunoelectrophoresis

Ascaris lumbricoides

cathartic stool for ova and parasites, eosinophil count

Asthma

spirometry, sputum for eosinophils, serum IgE antibodies, RAST, skin test

Attention deficit disorder

clinical diagnosis

Atrial arrhythmias

free thyroxine (FT4) index, electrocardiogram (ECG), Holter monitoring, His bundle study

Atypical pneumonia, primary

see Mycoplasma pneumoniae

B

Bacillary dysentery

stool smear (for leukocytes) and culture, febrile agglutinins

Balantidiasis

stool for ova and parasites

Banti syndrome

liver function tests, liver–spleen scan, bone marrow examination, hepatic vein catheterization

Barbiturate poisoning

blood or urine for barbiturates, electroencephalogram (EEG)

Basilar artery insufficiency

four-vessel cerebral angiogram, magnetic resonance angiogram

Bell palsy

CT scan of mastoids and petrous bones, electromyogram (EMG)

Beriberi

transketolase activity coefficient, urine thiamine afterload, therapeutic trial

Bilharziasis

stool or urine sediment for eggs, rectal biopsy

Biliary cirrhosis

liver function tests, mitochondrial antibodies, serum bile acids, endoscopic retrograde cholangiopancreatography (ERCP), liver biopsy

Blastomycosis

potassium hydroxide (KOH) prep, culture, chest x-ray, skin test, serologic test

Boeck sarcoid

chest x-ray, transbronchial lung biopsy, lymph node biopsy, Kveim test, liver biopsy, angiotensin-converting enzyme liver, gallium scan

Botulism

culture of food and stool, mouse assay of toxin

Brain tumor

CT scan, MRI

Brill–Symmer disease

lymph node biopsy

Bromide poisoning

blood bromide level

Broncheictasis

bronchogram, bronchoscopy, CT scan of lung

Bronchitis

sputum culture, chest x-ray

Bronchopneumonia

sputum smear and culture, chest x-ray, CBC, cold agglutinins

Brucellosis

blood cultures, serologic tests, skin test

Bubonic plague

culture of bubo, blood, or sputum; animal inoculation; serologic test

Buerger disease

phlebogram, arteriogram, biopsy of affected vessels, ultrasonography

C

Carbon monoxide poisoning

carboxyhemoglobin determination

Carbon tetrachloride poisoning

liver function tests, infrared spectrometry, liver biopsy, blood carbon tetrachloride

Carcinoid syndrome

serum serotonin, urine 5-hydroxyindoleacetic acid (5-HIAA), exploratory laparotomy, bronchoscopy

Carcinoma of the breast

mammogram, sonogram, fine-needle aspiration, biopsy

Carcinoma of the cervix

Papanicolaou (Pap) smears, cervical biopsy, colposcopy

Carcinoma of the colon

stool for occult blood, sigmoidoscopy, barium enema, colonoscopy, carcinoembyonic antigen (CEA), CT scan

Carcinoma of endometrium

Pap smear, dilatation and curettage (D & C)

Carcinoma of the esophagus

barium swallow, esophagoscopy, biopsy

Carcinoma of the lung

chest x-ray, CT scan, sputum Pap smears, brochoscopy and biopsy, needle biopsy, open lung biopsy, scalene node biopsy

Carcinoma of the pancreas

sonogram, CT scan of abdomen, liver function tests, ERCP, exploratory laparotomy, cancer antigen (CA) 19-9

Carcinoma of the stomach

gastrointestinal (GI) series, gastroscopy and biopsy, gastric cytology

Cardiac arrhythmias

ECG, Holter monitoring, echocardiogram, electrophysiologic study

Cardiomyopathy

see Mycarditis/Myocardiopathy

Carpal tunnel syndrome

nerve conduction velocity (NCV) study, MRI

Cat-scratch disease

skin test, lymph node biopsy

Celiac disease

D-xylose absorption, mucosal biopsy, urine 5-HIAA, small bowel series

Cellulitis

smear and culture of wound exudates, antistreptolysin O (ASO) titer

Cerebellar ataxia

CT scan, MRI

Cerebral abscess

CT scan, MRI

Cerebral aneurysm

CT scan, MRI, arteriogram

Cerebral embolism

CT scan, blood culture, echocardiogram, carotid scan, four-vessel cerebral angiogram, ECG

Cerebral hemorrhage

CT scan, MRI

Cerebral thrombosis

CT scan, MRI, carotid scan, digital subtraction angiogram, four-vessel cerebral angiogram

Cerebral spondylosis

x-ray of cervical spine, EMG, MRI of myelogram with simultaneous CT scan

Chagas disease

blood smear and culture, cerebrospinal fluid (CSF) smear and culture, bone marrow or tissue biopsy, animal inoculation, serologic tests

Chancroid

smear and culture of lesion, skin biopsy, serology tests

Child abuse

skeletal survey, chest x-ray, vaginal smear and culture

Chlamydia pneumonia

chest x-ray, serologic tests

Cholangioma

liver function tests, transhepatic cholangiogram, ERCP, CT scan of abdomen, exploratory laparotomy

Cholangitis

liver function tests, transhepatic cholangiogram, ERCP, exploratory laparotomy

Cholecystitis

sonogram, cholecystogram, liver function tests, hepatobiliary iminodiacetic acid scan (HIDA) test

Choledocholithiasis

liver function tests, duodenal drainage, ERCP, transhepatic cholangiogram, sonogram

Cholelithiasis

sonogram, cholecystogram, liver function tests, ERCP

Cholera

stool smear and culture, dark field microscopy

Choriocarcinoma

plasma B-subunit hCG, urine chorionic gonadotropin, D & C

Cirrhosis

liver function tests, liver scan, CT scan, liver biopsy

Coarctation of the aorta

chest x-ray, clinical evaluation, aortograms rarely required

Coccidioidomycosis

smear, animal inoculation, serology, skin test, chest x-ray

Concussion

CT scan, MRI, EEG, evoked potentials, psychometric tests

Congestive heart failure

ECG, test x-rays, spirometry, circulation time, arterial blood gases (ABG), echocardiogram, B-type naturetic peptide (BNP)

Coronary insufficiency

see Angina pectoris

Costochondritis (Tietze syndrome)

lidocaine infiltration

Craniopharyngioma

skull x-ray, CT scan, MRI

Cretinism

FT4 index, thyrotropin, radioactive iodine (RAI) uptake and scan, x-ray for bone age

Crigler–Najjar syndrome

see Gilbert disease

Cryoglobulinemia

serum protein electrophoresis and immunoelectrophoresis, (SIA) water test, cold agglutinins, rheumatoid arthritis (RA) test, hepatitis C antibody titer

Cryptococcosis

spinal fluid smear and culture, sputum or blood cultures, CSF cryptococcal antigen

Cushing syndrome

24-hour urine free cortisol, plasma cortisol, single-dose overnight dexamethasone suppression test, CT scan of brain or abdomen

Cystic fibrosis

quantitative pilocarpine iontophoresis, sweat test

Cysticercosis

serologic test, CT scan of brain, MRI, biopsy of subcutaneous cysticerci

Cystinosis

slit-lamp examination, liver biopsy

Cystinuria

serum and urine cystine and arginine, cyanide–nitroprusside test, thin-layer chromatography

Cytomegalic inclusion disease

blood smear for atypical lymphs, cytomegalovirus (CMV), IgM antibody titer, human fibroblastic cell culture innnoculation, immunofluorescence technique for viral demonstration

D

Dehydration

intake and output of fluid, electrolytes, blood urea nitrogen (BUN) to creatinine ratio, serum/urine osmolality

Dengue

viral isolation from blood, serology test

Dermatomyositis

Antinuclear antibody (ANA), aspartate aminotransferase (AST), lactate dehydrogenase (LDH), creatine phospho-kinase (CPK), aldolase, EMG, muscle biopsy

Diabetes insipidus

Hickey–Hare test, serum/urine osmolality intake and output before and after pitressin, CT scan, serum antidiuretic hormone (ADH)

Diabetes mellitus

glucose tolerance test, cortisone glucose tolerance test

Digitalis intoxication

serum digoxin level, ECG

Di Guglielmo disease

bone marrow, peripheral blood study

Diphtheria

Nose and throat culture

Diphyllobothrium latum

stool for ova and parasites, serum B12 level

Dissecting aneurysm

chest x-ray, CT scan or MRI of aorta, aortogram

Disseminated intravascular coagulation (DIC)

decreased fibrinogen, increased fibrin degradation products, D-Dimer assay

Diverticulosis

sigmoidoscopy, barium enema, colonoscopy, CT scan of abdomen, gallium scan, sonogram, exploratory laparotomy

Down syndrome

chromosome study, urinary B-aminoisobutyric acid

Dracunculiasis

noting presence of worms in subcutaneous tissues, serum IgE, antifilarial antibody titer

Dubin–Johnson syndrome

liver function tests, liver biopsy

Ductus arteriosus, patent

cardiac catheterization, angiocardiogram, echocardiogram

Duodenal ulcer

see Peptic ulcer

Dwarfism

x-ray of bones; endocrine, renal and GI function tests

Dysfunctional uterine bleeding

D & C, endometrial biopsy, progesterone challenge

E

Eaton–Lambert syndrome

EMG, Tensilon test, muscle biopsy, chest x-ray

Echinococcosis

CT scan, x-ray of long bones, Casoni skin test, serologic tests, liver biopsy

Eclampsia

uric acid, renal function tests, renal biopsy

Ectopic pregnancy

serum B-hCG by immunoassay, sonogram, laparoscopy, culdocentesis, exploratory laparotomy, serum progesterone levels

Eczema

serum IgE levels

Ehlers–Danlos syndrome

capillary fragility test, bleeding time, skin biopsy

Emphysema

pulmonary function tests, ABGs, α-antitrypsin level, single breath diffusing capacity for carbon monoxide

Empyema

chest x-ray, sputum cultures, gallium scan, thoracentesis

Encephalitis

viral isolation from brain tissue and spinal fluid, MRI, serologic tests

Encephalomyelitis

viral isolation from brain tissue and spinal fluid, MRI, serologic tests

Endocardial fibroelastosis

ECG, chest x-ray, echocardiogram, angiocardiogram

Endocarditis

see Subacute bacterial endocarditis

Epilepsy

wake-and-sleep EEG, CT scan or MRI, positron emission tomography (PET) scan, ambulatory EEG monitoring

Erectile dysfunction

penile blood pressure nocturnal tumescence testing, sonogram

Erythema multiforme

skin biopsy, patch test

Erythroblastosis fetalis

bilirubin, direct Coombs test, amniocentesis

Esophageal varices

esophagoscopy, sphlenovenogram, ultrasonography

Esophagitis

Bernstein test, esophagoscopy and biopsy, esophageal manometry, ambulatory pH monitoring

Extradural hematoma

skull x-ray, CT scan, MRI

Endometriosis

sonogram, CA125 levels

Epididymitis

sonogram, radionuclide scan

F

Fanconi syndrome

x-ray (pelvis, scapula, femor, ribs), urinary amino acids, glucose, electrolytes, serum uric acid, alkaline phosphatase, renal biopsy

Filariasis

blood smear for microfilariae, skin test, complement-fixation test

Folic acid deficiency

serum folic acid, therapeutic trial

Friedlander pneumonia

sputum smear and culture, blood cultures, lung puncture, serial chest x-rays

Friedreich ataxia

clinical diagnosis

G

Galactosemia

Paigon assay of blood galactose, red blood cell (RBC) assay of (GAL-1-PUT) transferase

Gallstone

see Cholelithiasis

Gargoylism

urinary chondroitin sulfuric acid, serum assay of α-L-iduronidase, tissue culture, enzyme assay

Gastritis

serology for Helicobacter pylori, gastroscopy, biopsy

Gastroenteritis

stool for culture, smear, and ova and parasites

Gaucher disease

assay of leukocytes for B-glucosidase, bone marrow examination, x-ray of long bones

General paresis

blood and spinal fluid fluorescent treponemal antibody absorption (FTA–ABS) test

Giardia lambia

cathartic stool for ova and parasites, duodenal analysis, Giardia antigen, string test

Gigantism

CT scan or MRI of brain, serum growth hormone

Gilbert disease

liver function tests, liver biopsy

Gilles de la Tourette syndrome

urinary catecholamines

Glanders

culture of skin lesion, skin test, serologic tests, animal inoculation

Glanzmann disease

platelet counts, clot retraction, prothrombin time, bleeding time, capillary fragility test, see also Thrombocythemia

Glaucoma

tonometry, gonioscopy, visual fields

Glomerulonephritis

serum complement, streptozyme test, ANA, renal biopsy

Glossitis

culture, biopsy, therapeutic trial of vitamins and iron

Glycogen storage disease

glucose tolerance test, epinephrine test, liver biopsy and analysis for glucose-6-phosphatase

Goiter

FT4 index, RAI uptake and scan, thyrotropin, serum antibodies

Gonorrhea

urethral, rectal, vaginal, or throat smear and cultures; DNA probes and polymerase chain reaction (PCR).

Gout

serum uric acid, synovial fluid analysis, x-ray of bones and joints

Granuloma inguinale

Wright stain of scrapings from lesion and biopsy

Graves disease

see Hyperthyroidism

Guillain–Barré syndrome

EMG, spinal fluid analysis

Gumma

FTA–ABS

H

Haemophilus influenzae

nose, throat, and sputum culture or spinal fluid smear and culture

Hamman–Rich syndrome

chest x-ray, pulmonary function tests, lung biopsy

Hand–Schuller–Christian disease

x-ray of skull, bone biopsy, bone marrow examination

Hansen disease

see Leprosy

Hartnup disease

urinary amino acid, indican, and indoleacetic acid; FT4 index; thyrotropin

Hashimoto disease

FT4 index, thyrotropin, serum thyroglobulin antibodies

Haverhill fever

agglutination titer, aspiration of affected joint or abscess for streptobacillus moniliformis

Hay fever

see Allergic rhinitis

Heart failure

see Congestive heart failure

Helminth infections

stool for ova and parasites, serologic tests, skin tests, liver function tests

Hemangioblastoma

CT scan or MRI

Hemochromatosis

serum ferritin, serum iron and iron binding capacity, liver or skin biopsy

Hemoglobin C disease

blood smear for target cells, hemoglobin electrophoresis

Hemoglobinuria, paroxysmal cold

CBC, Coombs test, Donath–Landsteiner test, FTA-ABS, serum haptoglobins

Hemoglobinuria, paroxysmal nocturnal

CBC, Ham test, sucrose hemolysis test

Hemolytic anemia

serum haptoglobins, radioactive chromium–tagged red cell survival, urine and fecal urobilinogen, Coombs test, blood smear

Hemophilia

coagulation profile, thromboplastin generation test, assay of factors VIII, IX, XI

Hepatitis

liver function test, hepatitis profile, IgM, anti–hepatitis A virus (HAV), hepatitis B surface antigen (HBsAG), liver biopsy, anti–hepatitis C virus (HCV)

Hepatitis, chronic active

HBsAG, liver function tests, ANA, liver biopsy

Hepatolenticular degeneration

see Wilson disease

Hepatoma

ultrasonography, CT scan, α-fetoprotein, liver biopsy, arteriogram, MRI

Hernia, diaphragmatic

see Hiatal hernia

Herniated disc

EMG, MRI, CT scan, myelogram, discogram

Herpangina

serologic tests, viral isolation

Herpes genitalis

examination of skin scrapings, Tzanck test, culture, serologic tests

Herpes simplex

serologic tests, viral isolation, Tzanck test

Herpes zoster

Tzanck test, serologic tests

Hiatal hernia

Bernstein test, esophogram, esophagoscopy and biopsy, esophageal manometry, therapeutic trial

Hirschsprung disease

rectal or colonic biopsy

Histamine cephalgia

test trial of histamine subcutaneously, response to sumatriptin

Histoplasmosis

sputum culture, bone marrow culture, animal inoculation, skin test, serologic tests, chest x-ray

HIV infections

see Acquired Immunodeficiency Syndrome

Hodgkin lymphoma

lymph node biopsy, bone marrow lymphangiogram, CT scan, liver–spleen scan, exploratory laparotomy

Huntington chorea

clinical diagnosis, genetic markers, CT scan

Hurler syndrome

see Gargoylism

Hydronephrosis

intravenous pyelogram (IVP), sonogram

Hyperaldosteronism

see Aldosteronism, primary

Hypercholesterolemia, familial

lipoprotein electrophoresis, lipid profile

Hyperlipemia, idiopathic

lipoprotein electrophoresis, ultracentrifugation

Hypernephroma

IVP or retrograde pyelogram, CT scan, angiogram

Hyperparathyroidism

serum calcium, phosphorus, and alkaline phosphatase; urine calcium; serum parathyroid hormone (PTH); 1,25-(OH)2D; phosphate reabsorption test; exploratory surgery

Hyperprolactinemia

CT scan, MRI of brain

Hypersplenism

CBC, blood smear, red cell survival, spleen/liver ratio, bone marrow, epinephrine test, exploratory laparotomy

Hyperthyroidism

thyroid-stimulating hormone (TSH), free T3, FT4 index, free T4

Hypoparathyroidism

serum calcium and phosphorus, 24-hour urine calcium, skull x-ray, phosphate reabsorption, therapeutic trial, PTH assay, urine cyclic adenosine monophosphate (AMP)

Hypopituitarism

serum cortisol, serum thyroxine, serum growth hormone, serum corticotrophin, thyrotropin, follicle-stimulating hormone (FSH), LH, CT scan, MRI

Hypotension, idiopathic postural

clinical observation, response to vasopressin injection (Pitressin), tests to rule out causes of secondary hypotension

Hypothyroidism

FT4 index, thyrotropin-sensitive assay, thyroid microsomal antibodies, therapeutic trial

I

Idiopathic hypertrophic subaortic stenosis

EKG, echocardiography

Ileitis

see Regional enteritis

Inappropriate ADH secretion

plasma and urine osmolality, spot urinary sodium, serum ADH

Infectious mononucleosis

monospot test, heterophil antibody titer, smear for atypical lymphocytes, liver function tests, repeat tests, Epstein–Barr virus (EBV) antibody titer

Influenza, viral

culture of nasopharyngeal washing, complement-fixation tests

Insulinoma

see Islet cell tumor

Interstitial cystitis

cystoscopy and biopsy

Intestinal obstruction

flat plate of the abdomen with lateral decubitus films, double enema, sonogram, CT scan, GI series with diatrizoate maglumine and diatrizoate sodium (Hypague), exploratory laparotomy

Iron deficiency anemia

serum ferritin, serum iron and iron binding capacity, free erythrocyte protoporphyrins (FEP), bone marrow, therapeutic trial

Irritable bowel syndrome

clinical diagnosis

Islet cell tumor

glucose tolerance test 72-hour fast, plasma insulin, C-peptide, tolbutamide tolerance test, pancreatic arteriogram, exploratory laparotomy

K

Kala-azar

blood smear, bone marrow or splenic aspirate for parasites, culture, serologic tests (ELISA)

Kaposi sarcoma

Human Herpes Virus 8 (HHV8) antibody titer, biopsy

Klinefelter syndrome

sex chromatin pattern, testicular biopsy, serum FSH and LH

Kwashiorkor

serum albumin, CBC

L

Lactase deficiency

lactose tolerance test, mucosal biopsy, hydrogen breath test

Laennec cirrhosis

see Cirrhosis

Larva migrans, visceral

eosinophil count, serum globulin, skin testing, serologic tests, liver biopsy

Laryngeal carcinoma

laryngoscopy

Laryngitis

nose and throat culture, washings for viral studies, laryngoscopy

Lead intoxication

serum and urine lead content, urine for γ-aminolivulinic acid (ALA), coproporphyrin, FEP, test dose of diaminoethanetetraacetic acid (EDTA), x-ray of long bones

Legionnaire disease

sputum culture, serology, urinary Ag assay

Leishmaniasis

CBC, blood spleen and bone marrow smears for parasites, biopsy, serologic tests

Leprosy

Wade scraped incision procedure, culture of lesion, biopsy of skin nerves, x-ray of hands and feet, histamine tests, lepromin skin test

Leptospirosis

see Weil disease

Lettere–Siwe disease

x-ray of bones, bone marrow, lymph node biopsy

Leukemia

blood smear, bone marrow, uric acid, serum B12 concentration, iron binding capacity

Listeriosis

blood or spinal fluid smear and spinal fluid agglutination titer, bone marrow biopsy

Liver abscess

liver scan with technetium or gallium, liver aspiration and biopsy, CT scan, amebic hemagglutinin inhibition titer, cathartic stool for ova and parasites

Loeffler syndrome

eosinophil count, sputum for eosinophils, stool for ova and parasites

Lung abscess

chest x-ray, tomogram, CT scan, sputum culture, bronchoscopy, sputum cytology, needle aspiration, biopsy, and culture

Lupoid hepatitis

see Hepatitis, chronic active

Lupus erythematosus

ANA, anti–double-stranded DNA antibody titer, Coombs test, lupus erythematosus prep, coagulation profile, biopsy of skin, muscle, lymph node, or kidney

Lyme disease

serologic tests

Lymphangitis

CBC, sedimentation rate

Lymphogranuloma inguinale

lygranum test, Giemsa-stained smear, serologic tests, tissue or lymph node biopsy

Lymphogranuloma venereum

serologic tests, lymph node biopsy, aspiration of bubo for culture

Lymphoma

see Hodgkin disease

Lymphosarcoma

CT scan, x-rays of chest and abdomen, lymphangiogram

M

Macroglobulinemia

serum electrophoresis and immunoelectrophoresis, ultracentrifugation, Sia water test, bone marrow

Malabsorption syndrome

D-xylose absorption test, urine 5-HIAA, mucosal biopsy, small-bowel series

Malaria

blood smear for parasites, bone marrow, serologic tests

Mallory–Weiss syndrome

esophagoscopy

Marfan syndrome

x-ray of long bones and ribs, slit-lamp examination of eyes, IVP, urinary hydroxyproline, CT scan of aorta

Marie–Strumpell spondylitis

x-ray of lumbosacral spine, bone scan, HLA typing

Mastocytosis

skin biopsy, Darier sign, long bone x-ray, bone marrow biopsy

Mastoiditis

x-ray of mastoid, CT scan

McArdle syndrome

liver biopsy, enzyme assay of muscle phosphorylase, muscle biopsy, urine myoglobin

Measles

smear of nasal secretions for giant cells, serologic tests

Meckel diverticulum

technetium scan, exploratory laparotomy

Mediastinitis

CT scan or MRI of chest, mediastinoscopy, exploratory surgery

Medullary sponge kidney

IVP, CT scan

Medulloblastoma

CT scan, MRI

Megaloblastic anemia

see Pernicious anemia

Meig syndrome

thoracentesis, culdoscopy, laparoscopy, exploratory laparotomy, sonogram

Melanoma

serum or urinary melanin, biopsy

Ménière disease

CT scan, audiogram, caloric tests, electronystagmography (ENG)

Meningioma

CT scan, MRI, x-ray of skull or spine, myelogram

Meningitis

spinal fluid examination, smear and culture, serum for viral serologic studies, blood culture

Meningococcemia

blood culture spinal fluid examination, smear and culture, Gram stain of punctured petechiae

Menopause syndrome

serum LH, FSH, serum estradiol, vaginal smear for estrogen effects, therapeutic trial

Mental retardation

CT scan or MRI, EEG, psychometric testing, skull x-ray, phenylketonuria (PKU), FT4 index, thyrotropin, urinary amino acids, chromosomal analysis

Methemoglobinemia

erythrocyte methemoglobin, ABG, blood diaphorase 1, spectrophotometry

Migraine

nitroglycerin test, histamine test, sedimentation rate to rule out temporal arteritis

Mikulicz disease

CBC, bone marrow, tuberculin test, biopsy of lesion, ANA, lymph node biopsy

Milk–alkali syndrome

serum calcium, phosphorus, alkaline phosphatase, urinary calcium and phosphates

Milroy disease

clinical diagnosis

Mitral insufficiency or stenosis

ECG, chest x-ray, echocardiogram, phonocardiogram, cardiac catheterization

Moniliasis

vaginal smear or culture, skin scrapings with KOH prep, biopsy

Mononucleosis, infectious

see Infectious mononucleosis

Mucormycosis

nose and throat culture, biopsy

Mucoviscoidosis

see Cystic fibrosis

Multiple myeloma

serum protein, electrophoresis, 24-hour urine electrophoresis, bone marrow, x-ray of skull and spine, MRI

Multiple sclerosis

somatosensory evoked potentials, (SSEP), visual evoked potential (VEP), spinal fluid globulin and myelin basic protein, MRI

Mumps

skin test, serologic tests, viral isolation from throat washings

Muscular dystrophy

EMG, muscle biopsy, urine creatine, chromosome analysis, serum enzyme (creatine kinase, and so forth)

Myasthenia gravis

EMG, Tensilon test, acetylcholine receptor antibody titer, CT scan of chest to rule out thymoma

Mycoplasma pneumoniae

cold agglutinins, (MG) streptococcal agglutinins, culture

Mycosis fungoides

skin biopsy

Myeloid metaplasia, agnogenic

red cell morphology, CBC, bone marrow, leukocyte alkaline phosphatase, urine and serum erythropoietin

Myelophthisic anemia

CBC, bone marrow, bone scan, lymph node biopsy

Myocardial infarction

serial enzymes ([MB], creatine phosphokinase [CPK]), and so forth), serial ECGs serum troponin-1, thallium 201 scintigraphy, pyrophosphate imaging, echocardiogram

Myocarditis/Myocardiopathy

echocardiogram, endomyocardial biopsy, cardiac catheterization

Myotonia atrophica

EMG, urine creatinine and creatine, muscle biopsy

Myxoma, cardiac

echocardiogram, angiocardiogram

N

Narcolepsy

sleep study, EEG, HLA-DR2

Nematodes

gastric analysis, muscle biopsy, eosinophil count, skin test, serologic tests, stools for ova and parasites, duodenal aspiration for ova and parasites, GI series, rectal swabs with Scotch tape

Nephritis

see Glomerulonephritis

Nephrocalcinosis

serum PTH, serum calcium, phosphorus and alkaline phosphatase, IVP, renal biopsy

Nephrotic syndrome

urinalysis serum complement, sedimentation rate, serum protein electrophoresis, renal function tests, ANA, renal biopsy

Neurinoma, acoustic

see Acoustic neuroma

Neuritis, peripheral

see Neuropathy

Neuroblastoma

urinary vanillylmandelic acid (VMA) and homovanillic acid acid (HVA), CT scan, bone marrow, exploratory laparotomy

Neurofibromatosis

biopsy, skeletal survey, CT scan, spinal fluid analysis, myelogram

Neuropathy

glucose tolerance test, blood lead level, urine porphobilinogen, blood and urine arsenic levels, urine N-methylnicotinamide, ANA, serum B12 and folic acid, spinal fluid examination, NCV, EMG, serum transketolase activity coefficient, nerve biopsy

Neurosyphilis

blood and spinal fluid FTA–ABS

Niacin deficiency

see Pellagra

Niemann–Pick disease

demonstration of sphingomyelin in reticuloendothelial cells, bone marrow biopsy, tissue biopsy, skeletal survey, culture of skin fibroblasts

Nocardiosis

sputum smear and culture, spinal fluid examination, smear and culture

Nonketotic hyperosmolar coma

blood sugar, plasma osmolality

Normal pressure hydrocephalus

CT scan, nuclear flow study (radioactive iodinated albumin [RISA])

Nutritional neuropathy

see Neuropathy

O

Ochronosis

urinalysis (Benedict solution, isolation of homogentisic acid), x-ray of spine

Oppenheim disease

EMG, muscle biopsy

Optic atrophy

CT scan of brain and orbits, visual fields, spinal tap, serum B12, x-ray of skull and optic foramina

Optic neuritis

FTA–ABS antibody titer, visual fields, MRI of the brain

Osteitis deformans

serum calcium, phosphorus, alkaline phosphatase, skeletal survey, bone scan, bone biopsy, urine hydroxyproline

Osteoarthritis

x-ray of spine and joints, exclusion of other forms of arthritis

Osteogenic sarcoma

alkaline and acid phosphatase, x-ray of bone, bone scan, bone biopsy

Osteomalacia

serum calcium phosphorus, alkaline phosphatase, x-ray of long bones, response to vitamin D and calcium, serum vitamin D levels

Osteomyelitis

sedimentation rate, blood culture, culture of bone biopsy, x-ray of bone, bone scan, teichoic acid antibody titer (TAAB)

Osteopetrosis

bone marrow, x-ray of bones, bone biopsy

Osteoporosis

serum, calcium, phosphorus, alkaline phosphatase, bone biopsy, x-ray of spine, quantitative computerized tomogram, bone mineral density (BMD)

Otitis media

nasopharyngeal or aural smear and culture, CBC, sedimentation rate, tympanometry, audiogram

Otosclerosis

audiometry

Ovarian cancer

serum CA125, pelvic sonogram, CT scan of abdomen and pelvis

P

Paget disease

see Osteitis deformans

Pancreatic carcinoma

see Carcinoma of the pancreas

Pancreatitis, acute

serum amylase and lipase, blood sugar, serum calcium, paracentesis, flat plate of abdomen, 2-hour urinary amylase

Pancreatitis, chronic

serum and urinary amylase and lipase before and after secretin, glucose tolerance test, duodenal analysis for bicarbonate and enzyme concentration, CT scan, ERCP, fecal fat, triolein iodine 131 (131I) uptake

Panniculitis

bone marrow, skin and subcutaneous tissue biopsy

Paralysis agitans

clinical diagnosis

Pediculosis

Woods lamp, microscopic examination of hair shafts

Pellagra

urine N-methylnicotinamide, urine niacin after loading dose

Pelvic inflammatory disease (PID)

laparoscopy, culture of cervical mucus, exploratory laparotomy

Pemphigus

skin biopsy, Tzanck test, immunofluorescence studies

Peptic ulcer

upper GI series, stool for occult blood, gastroscopy and duodenoscopy, gastric analysis, serology for H. pylori

Periarteritis nodosa

ANA; eosinophil count; CBC; urinalysis; muscle, skin, subcutaneous tissue, and testicular biopsy; nerve biopsy; angiography

Pericarditis

ECG, echocardiogram, chest x-ray, angiocardiogram, pericardial tap, CT scan or MRI

Periodic paralysis, familial

serum potassium, ECG, EMG, response to glucose

Peritonitis

CBC, flat plate of abdomen, CT scan, sonogram, peritoneal tap, exploratory laparotomy

Pernicious anemia

CBC, blood smear, serum B12 and folic acid, Schilling test, gastric analysis with histamine, bone marrow

Pertussis

CBC, nasopharyngeal smear and culture

Petit mal

sleep EEG, CT scan

Peutz–Jeghers syndrome

small bowel series, exploratory laparotomy

Pharyngitis

nose and throat culture, rapid agglutination test of throat swab (Abbott test pack strep A, Abbott Laboratries, Abbott Park, IL), streptozyme test

Phenylpyruvic oligophrenia

urine for PKU and phenylalanine, Guthrie test, serum phenylalanine

Pheochromocytoma

plasma and urine catecholamines, 24-hour urine VMA, CT scan, MRI

Phlebitis

see Thrombophlebitis

Phlebotomus fever

serologic tests

Pickwickian syndrome

pulmonary function tests, ABG, sleep study

Pinealoma

CT scan or MRI

Pinworms

Scotch tape swab of perianal area with microscopic examination for eggs

Pituitary adenoma

CT scan, MRI, serum thyrotropin, corticotrophin, LH and FSH, FT4 index, serum cortisol, growth hormone

Placenta previa

ultrasonography

Plague

see Bubonic plague

Platyhelminthes

stool for ova and parasites, serologic tests, skin test, urine sediment for eggs, eosinophil count

Pleurisy

chest x-ray, thoracentesis, pleural biopsy, bronchoscopy, CT scan, ultrasonography

Pleurodynia, epidemic

serologic tests, stool and throat cultures for Coxsackie B virus

Pneumococcal pneumonia

see Pneumonia

Pneumoconiosis

chest x-ray, pulmonary function tests, ABG, sputum smear, lung biopsy, lung scan, scalene node biopsy

Pneumonia

stat sputum smear, culture, blood cultures, chest x-ray

Pneumothorax

chest x-ray, ABG, CT scan

Poliomyelitis

viral isolation from stool, serologic tests, spinal fluid analysis

Polyarteritis

see Periarteritis nodosa

Polycystic kidney

sonogram, CT scan

Polycystic ovary

see Stein–Leventhal syndrome

Polycythemia vera

CBC, platelet count, uric acid, ABG, pulmonary function tests, serum erythropoietin, bone marrow

Polymyalgia rheumatica

sedimentation rate

Polyneuritis

see Neuropathy

Porphyria

urine porphyrins and porphobilinogen

Portal cirrhosis

see Cirrhosis

Pott disease

x-ray of the spine, aspiration and culture of synovial fluid, synovial or bone biopsy, purified protein derivative (PPD)

Pre-eclampsia

see Eclampsia

Pregnancy

blood or urine test for pregnancy

Prostate carcinoma

serum acid and alkaline phosphatase, prostate-specific antigen (PSA) skeletal survey, bone scan, biopsy of prostate

Prostatic hypertrophy

sonogram cystoscopy, IVP

Protein-losing enteropathy

I131 polyvinylpyrrolidone test, serum protein electrophoresis

Pseudogout

synovial analysis

Pseudomembranous colitis

Clostridium difficile toxin B

Pseudohypoparathyroidism

serum calcium, phosphorus, alkaline phosphatase, urine calcium, Ellsworth–Howard test, parathyroid tissue biopsy

Pseudotumor cerebri

CT scan, MRI, spinal tap

Psittacosis

chest x-ray, serologic test, virus isolation

Pulmonary embolism

see Pulmonary infarction

Pulmonary emphysema

see Emphysema

Pulmonary fibrosis

diffusion capacity, bronchoscopy, lung biopsy, CT scan

Pulmonary hypertension, idiopathic

ABG, pulmonary function test, cardiac catheterization, pulmonary angiogram

Pulmonary infarction

ABG, lung scan, pulmonary angiogram, impedance plethysmogram, helical CT scan, rapid D-dimer assay

Pyelonephritis

urine culture, colony count, IVP, cystoscopy, renal biopsy

Pyloric stenosis

GI series, gastroscopy, sonogram

Pyridoxine deficiency

serum iron and iron binding capacity, blood pyridoxine, urine pyridoxic acid

Q

Q fever

serologic tests

R

Rabies

autopsy of infected animals, isolation of virus from saliva, serum and CSF antibody titer, fluorescent antibody stain of corneal or skin cells

Rat-bite fever

dark field examination, culture of lesion, aspiration and culture of regional lymph node, animal inoculation, serologic tests

Raynaud disease

ANA, lupus erythematosus prep, immunoelectrophoresis, cold agglutinins, cryoglobulins, skin or muscle biopsy, cold challenge

Reflux esophagitis

see Esophagitis

Regional enteritis

sedimentation rate, small bowel series, sigmoidoscopy or colonoscopy and biopsy, surgical exploration

Reiter disease

HLA typing, bone scan, synovial analysis

Relapsing fever

peripheral blood smear for Borrelia organisms, animal inoculation, serologic tests, total leukocytes, spinal tap

Renal calculus

IVP, CT scan, cystoscopy, retrograde pyelogram, sonogram, stone analysis

Renal tubular acidosis

serum electrolytes, calcium, phosphorus, alkaline phosphatase, urine calcium, phosphatase and bicarbonate, urine pH after ammonium chloride load

Respiratory distress syndrome

Ratio PaO2 to FiO2, pulmonary artery catheterization

Reticuloendotheliosis

X-ray, CBC, tissue cholesterol content, biopsy of skeletal lesion, bone marrow, or lymph nodes

Reticulum cell sarcoma

alkaline phosphatase, lymph node biopsy, x-ray of chest, skeletal survey, GI series, IVP, cytologic examination of pleural or ascitic fluid

Rheumatic fever

throat culture, streptozyme test, C-reactive protein (CRP), sedimentation rate, ECG, echocardiogram, serial ASO titer

Rheumatoid arthritis

RA test, sedimentation rate, ANA, x-ray of joints, synovial fluid analysis

Riboflavin deficiency

activity coefficient of erythrocyte glutathione reductase

Rickets

serum calcium, phosphorus, alkaline phosphatase, urine calcium, x-ray of bones, serum PTH, serum 25-OHD, bone biopsy

Rickettsialpox

serologic tests

Rocky Mountain spotted fever

specific serologic tests, Weil–Felix test, fluorescent antibody staining of skin lesions

Rubella

viral isolation, latex agglutination card assay, other serologic tests

Rubeola

see Measles

S

Saddle embolus of aorta

oscillometry, Doppler flow study, aortogram

Salicylate intoxication

serum or urine salicylates, electrolytes

Salmonellosis

stool culture, febrile agglutinins

Salpingitis

vaginal smear and culture, sonogram, laparoscopy, exploratory surgery

Sarcoidosis

see Boeck sarcoid

Scabies

KOH prep

Scalenus anticus syndrome

x-ray of cervical spine, arteriogram

Scarlet fever

nose and throat culture, streptozyme test, Schultz–Charlton reaction

Schilder disease

EEG, CT scan, MRI, spinal tap, brain biopsy

Schistosomiasis

stool or urine for ova, rectal biopsy, liver biopsy, serologic tests

Schönlein–Henoch purpura

urinalysis, platelet count, coagulation profile, bleeding time, capillary fragility

Schuller–Christian disease

see Hand–Schuller–Christian disease

Scleroderma

ANA, RA test, anticentromere antibody titer, skin biopsy, esophagram, malabsorption workup

Scurvy

serum ascorbic acid, capillary fragility, x-ray of bones, therapeutic trial

Seminoma

urine hCG, sonogram, exploratory surgery, α fetoprotein

Septicemia

blood culture

Sexual precocity

skull x-ray, CT scan, urine 17-ketosteroids and 17-hydroxysteroids, plasma cortisol, metyrapone test, exploratory surgery

Shigellosis

stool examination for leukocytes, stool culture

Sickle cell anemia

CBC, blood smear, sickle cell preparation, hemoglobin electrophoresis

Silicosis

chest x-ray, pulmonary function tests, ABG, lung biopsy, CT scan

Silo-filter's disease

chest x-ray, clinical observations

Simmond disease

see Hypopituitarism

Sinusitis

x-ray of sinuses, CT scan of sinuses, nose and throat culture, erythrocyte sedimentation rate (ESR), CRP

Sjogren syndrome

Schirmer test for tear production, ANA, RA titer, HLA typing, thyroglobulin antibody titer, anti-Sjogren syndrome B (La) antibody titer

Smallpox

smear of vesicular fluid for virus particles, viral isolation, serologic test

Spherocytosis, hereditary

CBC, blood smear, red cell fragility test, reticulocyte count, serum haptoglobins, bilirubin

Spinal cord tumor

x-ray of spine, CT scan of spine, MRI

Spinal stenosis

CT scan, MRI, myelogram

Sporotrichosis

cultures of exudates from ulcer, serologic tests, skin tests, chest x-ray

Staphylococcal pneumonia

sputum smear and culture, chest x-ray

Steatorrhea

see Celiac disease

Stein–Leventhal syndrome

culdoscopy, laparoscopy, serum LH, urine 17-ketosteroids, sonogram, exploratory surgery, biopsy of ovaries

Stevens–Johnson syndrome

streptozyme test, nose and throat culture

Still disease

RA test, sedimentation rate, CRP, synovianalysis

Stokes–Adams syndrome

ECG, Holter monitoring, event monitoring, electrophysiologic testing

Streptococcal pharyngitis

see Pharyngitis

Strongyloidiasis

stool or duodenal aspirate for ova and parasites

Sturge–Weber syndrome

skull x-ray, CT scan, MRI

Subacute bacterial endocarditis

blood culture, bone marrow cultures, echocardiogram, RA test, FTA–ABS, transesophageal echocardiography

Subarachnoid hemorrhage

CT scan of brain, spinal tap, arteriogram

Subdiaphragmatic abscess

chest x-ray, gallium scan, indium scan, CT scan, needle aspiration, exploratory surgery

Subdural hematoma

CT scan, MRI, arteriogram

Subphrenic abscess

see Subdiaphragmatic abscess

Substance abuse

blood alcohol level, urine drug screen, CAGE questionnaire

Sulfhemoglobinemia

shaking of venous blood in test tube, spectroscopic examination of blood

Syphilis

blood and spinal fluid venereal disease research laboratory (VDRL) test or FTA–ABS, dark field microscopy

Syringomyelia

CT scan, myelogram, MRI

T

Tabes dorsalis

blood and spinal fluid, FTA–ABS

Takayasu disease

CT scan of aorta, aortogram, serum protein electrophoresis

Tapeworm infections

stool for ova and parasites, serology, sonogram, CT scan

Tay-Sachs disease

cortical biopsy

Temporal arteritis

sedimentation rate, biopsy of temporal artery

Tetanus

clinical diagnosis, positive culture does not establish diagnosis

Thalassemia

CBC, blood smear, reticulocyte count, serum haptoglobin, hemoglobin electrophoresis

Thromboangiitis obliterans

see Buerger disease

Thrombocythemia (thrombasthenia)

platelet count, bleeding time, clotting time, clot retraction, capillary fragility

Thrombocytopenic purpura, idiopathic

coagulation profile, platelet count, platelet antibody titer, bone marrow, liver–spleen scan, capillary fragility

Thrombophlebitis

impedance plethysmography, compression ultrasonography, fibrinogen I 125 scan, venogram, thermogram, ultrasonography

Thymoma

chest x-ray, CT scan of mediastinum, mediatinoscopy, exploratory thoracotomy

Thyroiditis, subacute

FT4 index, RAI uptake and scan, sedimentation rate, antithyroid autoantibodies

Thyroid nodule

RAI uptake and scan, fine-needle aspiration, biopsy, FT4 index, sonogram, trial of thyroid suppression therapy

Tonsilitis

see Pharyngitis

Torsion of testicle

ultrasonography, radionuclide scintigraphy

Tourette syndrome

clinical diagnosis

Torulosis

see Cryptococcosis

Toxemia of pregnancy

see Eclampsia

Toxoplasmosis

indirect fluorescent antibody (IFA) titer, passive hemogglutination test (PHA), skin test, animal inoculation

Trachoma

smear of conjunctival scrapings, culture for Chlamydia, tears for microimmunofluorescent antibodies

Transfusion reaction

serum hemoglobins and methemalbumin, Coombs test

Transient ischemic attack (TIA)

carotid scan, digital subtraction angiogram, CT scan, four-vessel cerebral angiogram, MRI

Trichinosis

eosinophil count, skin test, serologic tests, muscle biopsy

Trypanosomiasis

smears and culture of blood, CSF, lymph node aspirate for parasites, animal inoculation, serology

Tuberculosis

smear and culture of sputum and gastric washings, Guinea pig inoculation, skin test, chest x-ray, CT scan

Tuberosclerosis

skull x-ray, CT scan, skin biopsy, cortical biopsy, EEG

Tularemia

smear and culture of ulcer, lymph nodes, or nasopharynx; Foshay skin test; serologic tests

Turner syndrome

buccal smear for chromatins (Barr bodies), chromosome analysis

Typhoid fever

culture of stool, blood, or bone marrow; febrile agglutinins

Typhus, epidemic

serologic tests, Weil–Felix reaction

Typhus scrub

isolation from blood, serologic tests, Weil–Felix reaction

U

Ulcer

see Peptic ulcer

Ulcerative colitis

barium enema, sigmoidoscopy or colonoscopy, biopsy

Urethritis

urethral smear and culture, vaginal smear and culture, urine culture, Chlamydia culture, cystoscopy

Uterine fibroids

sonogram, CT scan, MRI

Urticaria

RAST, allergic skin testing, elimination diet, C'I esterase inhibitor

Uveitis

slit-lamp examination, ANA, HLA-B27 typing, VDRL, lyme serology

V

Varicella

serologic tests

Varicose veins

phlebogram, thermogram

Variola

see Smallpox

Ventricular septal defects

ECG, echocardiogram, cardiac catheterization

Visceral larva migrans

blood typing, serologic tests, biopsy

Vitamin A deficiency

serum vitamin A or carotene, skin biopsy

Vitamin B deficiency

see Beriberi

Vitamin C deficiency

see Scurvy

Vitamin D deficiency

see Rickets

Vitamin K deficiency

coagulation profile including prothrombin time

Von Gierke disease

see Glycogen storage disease

Von Willebrand disease

coagulation profile, thromboplastin-generation test, factor VIII assay

W

Waterhouse–Friderichsen syndrome

blood cultures, spinal fluid examination, nose and throat culture, plasma cortisol

Wegener granulomatosis

x-ray of nose, sinuses, and chest; urinalysis; renal biopsy; lung biopsy; nasal biopsy; antineutrophil cytoplasmic antigen (ANCA)

Weil disease

dark field examination of blood, Guinea pig inoculation, serologic tests, spinal tap

Wernicke encephalopathy

response to intravenous thiamine

Whipple disease

small-bowel series, lymph node biopsy, jejunal biopsy, malabsorption tests

Whooping cough

see Pertussis

Wilson disease

urine copper and amino acids, serum copper and ceruloplasmin, liver biopsy, slip-lamp examination of cornea, uric acid

Y

Yaws

dark field examination, serologic tests

Yellow fever

viral isolation, serologic tests, liver biopsy

Z

Zollinger–Ellison syndrome

12-hour quantitative and basal gastric acid output (BAO) gastric analysis, serum gastrin, GI series, gastroscopy, exploratory laparotomy



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