Dr Mohammad Ali Raza Qizalbash (Dr MARQ), Pakistan
[Diseases Risk factors/Prognosis/Mnemonics for USMLE STEP 3]
Sources used: MTB 2, MTB 3, MTB IM, FA 3, Step Up to Medicine, Step Up to Step 3
Cardiology
Coronary Artery Disease Risk Factors:
The most clearly agreed-upon risk factors for CAD are:
Diabetes mellitus
Tobacco smoking
Hypertension
Hyperlipidemia
Family history of premature coronary artery disease (Men 55 years; women 65 years)
Age above 45 in men and above 55 in women
The worst risk factor for CAD is diabetes mellitus, but the most common risk is hypertension.
{Common risk factors for atherosclerosis may be remembered by the mnemonic SHIFT MAID: Smoking,
HTN, Insulin resistance (NIDDM), Family history, Triglycerides and cholesterol (high), Male, Age
(increased), Inactivity, Diet}.
Less Reliable but Probable Risk Factors for CAD:
Physical inactivity
Excess alcohol ingestion
Insufficient fruits and vegetables in the diet
Emotional stress
Elevated cardiac CT scan calcium scores
Positron emission tomography (PET) scanning
Increased physical activity and exercise reliably lower all-cause mortality, but physical inactivity is
not as severe a risk for coronary disease as diabetes and hypertension
Calcium scores on a CT scan of the heart are still considered experimental. It is not clear what to do
differently with this information in addition to standard risk factors.
Unreliable (Unproven) Risk Factors for CAD:
Several disease markers such as elevated homocysteine levels, chlamydia infection, and elevated C
reactive protein levels have not proven to be reliable. There is no benefit to measuring, following, or
attempting to therapeutically intervene on these factors.
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CAD can have the following clinical presentations:
• Asymptomatic
• Stable angina pectoris
• USA pectoris
• MI—either NSTEMI or
STEMI
• Sudden cardiac death
Prognostic indicators of CAD:
a. Left ventricular function (ejection fraction [EF])
• Normal 50%
• If <50%, associated with increased mortality
b. Vessel(s) involved (severity/extent of ischemia)
• Left main coronary artery—poor prognosis because it covers approximately two-thirds of the heart
• Two- or three-vessel CAD—worse prognosis
{Stable angina prognosis
Is related to the ability to prevent progression of atherosclerosis and to control comorbid factors; left
ventricle function and the degree of left coronary artery occlusion are the strongest predictors of longterm survival}.
{Unstable angina prognosis
Short-term prognosis is frequently predicted by the thrombolysis in myocardial infarction (TIMI) risk
score.
Long-term prognosis is best predicted by EF and the degree of residual ischemia detected on
posttherapy stress testing.
Up to 10% of patients will have a myocardial infarction or will die within 6 months following the onset of
new unstable angina.
One third of patients will have a myocardial infarction within 3 years after a new onset of unstable
angina}.
{MI Prognosis
there is a 30% acute mortality with 50% of survivors being rehospitalized within 1 year and 10% dying
within 1 year; complications include infarct extension, arrhythmias, myocardial dysfunction, papillary
muscle necrosis, wall rupture, aneurysm, mural thrombus, pericarditis, and Dressler syndrome (i.e.,
fever, pericarditis, and increased erythrocyte sedimentation rate [ESR] 2 to 4 weeks post-MI)}.
{The differential diagnosis for chest pain may be remembered by the mnemonic
CHEST PAIN: Cocaine/Costochondritis, Hyperventilation/ Herpes zoster, Esophagitis/
Esophageal spasm, Stenosis of aorta, Trauma, Pulmonary embolism/ Pneumonia/
Pericarditis/Pancreatitis, Angina/ Aortic dissection/ Aortic aneurysm, Infarction (myocardial),
Neuropsychiatric disease (depression)}.
{Treatment for MI may be remembered by the mnemonic Be MONA: Beta-blocker,
Morphine, O2, Nitroglycerin, ASA/ ACE-I}.
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CHF Risk factors:
CAD
HTN
valvular disease
cardiomyopathy
COPD
drug toxicity
alcohol use
{CHF due to systolic dysfunction
First medications given are typically loop diuretics (decrease heart preload) and either ACE-I or
angiotensin receptor blockers (ARB) (decrease preload and afterload and increase cardiac output).
β-blockers may be added once a stable ACE-I dose is prescribed and should not be administered during
acute exacerbations.
Digoxin (increases contractility) may be added to the regimen to improve symptoms but has not
demonstrated an ability to improve mortality.
Spironolactone or vasodilators may be added for persistent symptoms.
CHF due to diastolic dysfunction
BP is controlled with calcium channel blockers, ACE-I, or ARB.
β-blockers are useful to control the heart rate and to decrease cardiac workload in stabilized patients.
K-sparing diuretics should be given to reduce cardiac hypertrophy caused by aldosterone.
Recombinant BNP (i.e., nesiritide) has been shown to improve outcomes during severe acute
exacerbations.
Underlying conditions should be treated.
The patient should adhere to a low-salt diet.
Progressive cases may require cardiac transplant or implantation of an assistive device (indicated for an
ejection fraction below 35%)}.
{Frequent causes of CHF exacerbations are remembered by the mnemonic A SMITH
PEAR: Anemia, Salt, MI, Infection, Thyroid (high or low), HTN, Pericarditis, Endocarditis, Arrhythmia, Rx
(not taking medications)}.
CHF Prognosis:
Approximately half of patients with CHF will eventually die from a ventricular arrhythmia.
Hospital admission is associated with up to a 20% mortality rate.
Mortality increases to 40% in the presence of a comorbid MI and 80% in the presence of hypotension.
Hyperlipidemia Risk factors:
a. Diet
• Saturated fatty acids and cholesterol cause elevation in LDL and total cholesterol
• High-calorie diets do not increase LDL or cholesterol levels (are “neutral”)
but do increase triglyceride (TG) levels
• Alcohol increases TG levels and HDL levels but does not affect total cholesterol levels
b. Age—cholesterol levels increase with age until approximately age 65. The increase is greatest during
early adulthood—about 2 mg/dL per year
c. Inactive lifestyle, abdominal obesity
d. Family history of hyperlipidemia
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e. Gender—men generally have higher cholesterol levels than do women; when women reach
menopause, cholesterol levels then equalize and may even be higher in women than in men
f. Medications
• Thiazides—increase LDL, total cholesterol, TG (VLDL) levels
• β-Blockers (propranolol)—increase TGs (VLDL) and lower HDL levels
• Estrogens—TG levels may further increase in patients with hypertriglyceridemia
• Corticosteroids and HIV protease inhibitors can elevate serum lipids
g. Genetic mutations that predispose to the most severe hyperlipidemias
h. Secondary causes of dyslipidemia
Hypertension Risk factors:
Age—both systolic and diastolic BP increase with age.
Gender—more common in men (gap narrows over age 60); men have higher complication rates.
Race—it is twice as common in African-American patients than in Caucasian patients; African-American
patients also have higher complication rates (stroke, renal failure, heart disease).
Obesity, sedentary lifestyle, dyslipidemia.
Family history.
Increased sodium intake—this correlates with increased prevalence in large populations, although not in
individuals; individual susceptibility to the effects of high salt intake varies.
Alcohol—intake of more than 2 oz (8 oz of wine or 24 oz of beer) per day is associated with HTN.
Prognosis:
Untreated or poorly treated disease increases the risk of CAD, stroke, aortic aneurysm, aortic dissection,
CHF, kidney disease, and ophthalmologic disease.
Long-term prognosis is directly related to the ability to control BP, ability to reduce unhealthy behaviors,
and the avoidance of complications.
The behaviors that are risk factors for HTN are also associated with diabetes mellitus.
Hypertensive emergency:
Excessive BP in the presence of an acute onset of end organ dysfunction (e.g., renal failure,
encephalopathy, papilledema).
Prognosis:
prolonged excessive BPs are associated with high rates of CAD, stroke, CHF, and renal failure;
excessive decreases in BP can lead to organ hypo perfusion.
{In a hypertensive emergency (give IV med) the initial decrease in DBP should not exceed 25% of the
presenting pressure to avoid triggering an ischemic event}.
{Reduce the diastolic BP to 100 mm Hg using IV nitroprusside, labetalol, or fenoldopam.
After the initial reduction use oral β-blocker and ACE-I to maintain mean DBP at 100 to 105 mm Hg}.
Thoracic aortic aneurysms (TAA) Risk factors:
Atherosclerosis* (HTN, Hyperlipidemia)
Smoking
Age>60yrs, white race and family history
Marfan syndrome, Ehler danlos syndrome and Syphilis => Causes more TAA than AAA
(The most important modifiable risk to prevent worsening of existing aneurysms is uncontrolled
Hypertension).
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Prognosis:
complications include rupture, renal insufficiency, mesenteric ischemia, CVA, neurologic deficits,
MI, and spinal cord ischemia.
Abdominal aortic aneurysms (AAA) Risk factors:
Atherosclerosis* (HTN, Hyperlipidemia)
Smoking
Age >60yrs
White race
Family history
{AAAs are associated with a pulsatile abdominal mass and abdominal bruits.
Thoracic aneurysms are associated with upper body edema, JVD, and neurologic deficits.
The development of hypotension and severe pain is suggestive of rupture}.
Aortic Dissection Risk factors:
HTN (Most common)
M>F
Age>40yrs
Marfan and Ehler danlos syndrome
Syphilis
Coarctation of the aorta
Cocaine
Trauma
(“A.D.” are hypertensive during attack, in contrast to “Aortic aneurysm rupture” where there is
decrease blood pressure. Here the blood is unable to escape aorta).
Prognosis:
Complications include MI, aortic regurgitations, CHF, pericardial tamponade, neurologic deficits, renal or
mesenteric ischemia, and recurrent dissection.
Surgical treatment for any type of dissection is associated with a 30% risk of in-hospital mortality;
in-hospital mortality with medical treatment alone is 60% for Stanford A dissections and 10% for
Stanford B dissections.
The average 10-year survival is 60% and is influenced by the presence of comorbid conditions.
{Stanford classification
Type A: involves the ascending aorta
Type B: dissection that begins distal to the left subclavian artery}.
Sinus bradycardia Risk factors:
History of CAD
Advanced Age
Prognosis:
Irreversible cases carry a predisposition to the development of other arrhythmias.
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Atrial fibrillation Common Risk factors:
mnemonic CHAPTERS
Coronary artery disease
Hypertension
Anemia
Pulmonary disease
hyperthyroid
Ethanol
Rheumatic heart disease
Sepsis
Prognosis:
Complications include increased risk of MI, heart failure, and mural thrombus formation due to atrial
blood stasis.
Dislodgement of a mural thrombus may cause stroke.
The risk of complications correlates with the amount of time not spent in normal sinus rhythm.
Atrial Flutter Risk factors:
CAD
congestive heart failure (CHF)
chronic obstructive pulmonary disease (COPD)
valvular disease
pericarditis
Prognosis:
cases in which successful catheter ablation is performed have rare recurrence; stroke is a possible
complication when anticoagulation is not prescribed in cases with delayed treatment
Ventricular tachycardia Risk factors:
CAD
prior MI
Prognosis:
prognosis correlates with the degree of cardiac infarction at the time of onset; approximately 30%
rate of sudden cardiac death within 2 years of onset.
Ventricular fibrillation Risk factors:
CAD
recent MI
recent Vtach
Prognosis:
poorer prognosis with high recurrence rate if occurring more than 48 hours after a MI; acute
survivorship decreases with delays to treatment or an inability to restore a stable cardiac output.
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{The treatment protocol for Vfib or Vtach (pulseless) may be remembered by the mnemonic
“Shock, Shock, Shock, Everybody Shock, Anybody Shock, Little Shock, Big Shock, Mama Shock, Papa
Shock, Baby Shock”:
Shock (200 J) →Shock (300 J) →Shock (360J) → Epinephrine→ Shock (360 J) → Amiodarone→ Shock→
Lidocaine→ Shock→ Bretylium→ Shock→ Magnesium→ Shock→ Procainamide→ Shock→ Bicarbonate
(sodium)→Shock}.
Premature ventricular complexes (PVCs) Risk factors:
“Isolated ectopic beats from a ventricular origin”
Frequently benign; may be caused by hypoxia, abnormal serum electrolyte levels, hyperthyroidism,
caffeine use
{PVCs become concerning for the development of other ventricular arrhythmias if there
are more than three PVC/min}.
Prognosis:
may be a precursor to more severe arrhythmias in patients with CAD
Paroxysmal supraventricular tachycardia (PSVT):
Tachycardia (i.e., HR >100 bpm) arising in the atria or atrioventricular (AV) junction
Occurs most commonly in young patients with otherwise healthy hearts
Cause frequently is reentry anomaly
AV nodal reentry: presence of both slow and fast conduction pathways in AV node; conduction
proceeds quickly through the fast pathway and progresses up slow pathway in retrograde fashion to
create a conduction loop and reentrant tachycardia.
AV reentry as found in Wolff-Parkinson-White (WPW) syndrome: similar to AV nodal reentry, but
instead of fast and slow pathways existing in the AV node, a separate accessory conduction pathway
exists between the atria and ventricles that returns a conduction impulse to the AV node to set up a
reentry loop.
Prognosis:
structural cardiac anomalies may contribute to the development of other arrhythmias; risk of
sudden cardiac death is minimal
Multifocal atrial tachycardia (MAT):
Tachycardia caused by several ectopic foci in the atria that discharge automatic impulses (i.e., multiple
pacemakers), which causes tachycardia.
Prognosis:
persistent untreated tachycardia may lead to cardiomyopathy
Heart block:
First degree: caused by increased vagal tone or functional conduction impairment.
Second degree, Mobitz I (i.e., Wenckebach): caused by intranodal or His bundle conduction defect, drug
effects (e.g., β-blockers, digoxin, calcium channel blockers), or increased vagal tone.
Second degree, Mobitz II: cause is an infranodal conduction problem in the bundle of His or Purkinje
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Fibers.
Third degree (i.e., complete): cause is an absence of conduction between the atria and ventricles.
Prognosis:
Reversible first-degree and second-degree block are benign; patients with irreversible second- or
third-degree block are at an increased risk of developing ventricular arrhythmias but do very well if
treated with a pacemaker.
{Common presentations of syncope may be remembered by the mnemonic SUCH
DROPS: Seizures, Unexplained (50% presentations), Cardiac, Hypoglycemia, Drugs, Reflex mechanisms
(vasovagal response), Orthostasis (hypotension), Psychogenic, Stroke}.
Pulseless electrical activity (PEA):
Common causes of PEA may be remembered by the 6 Hs and 4 Ts: Hypovolemia, Hypoxia,
Hyperkalemia, Hypokalemia, Hypomagnesemia, Hydrogen ions (acidosis), Tension PTX, Thrombosis (CAD
or PE), Tablets (drugs) Tamponade (cardiac).
{For pulseless electrical activity, think PEA: Pulseless→ Epinephrine}.
Prognosis:
poor prognosis without rapid correction.
M.R Prognosis:
mild cases have few complications; more severe cases are associated with the development of CHF
and pulmonary disease.
M.S Prognosis:
progressive CHF and pulmonary disease; poor prognosis without surgical treatment in advanced
disease.
A.R Prognosis:
Increased risk of CHF, arrhythmias, or sudden cardiac death.
Yearly risk of mortality in symptomatic patients is up to 5%.
This risk increases to 10% with angina and to 20% with comorbid CHF.
A.S Prognosis:
The development of symptoms is correlated with an increased risk for CHF, arrhythmias, and sudden
cardiac death.
The development of CHF is a poor prognostic sign.
Without surgical correction, mortality in symptomatic patients commonly occurs within 3 years.
P.S Prognosis:
good prognosis unless stenosis is severe (right-sided heart failure develops).
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Ventricular septal defect (VSD) Prognosis:
small VSDs will spontaneously close in 50% of cases; the prognosis in large VSDs correlates with the
initiation of treatment prior to the development of heart failure
Atrial septal defect (ASD) Prognosis:
although the majority of children will require eventual surgical closure, a minority (i.e., 15%) will
undergo spontaneous closure; potential complications include CHF, pulmonary HTN, endocarditis, and
recurrent respiratory infections.
{Patients with ASDs are more susceptible to oxygen desaturation at high altitudes and decompression
sickness during deep sea diving}.
Hypertrophic obstructive cardiomyopathy (HOCM) Prognosis:
complications include CHF, arrhythmias, and sudden death; 4% mortality per year (due to sudden
death).
Common Vasculitides Risk factors:
Temporal arteritis (giant cell arteritis): Female gender, age >50 years
Prognosis:
Complications include blindness, facial ischemia, frequent recurrence, frequent association with
Polymyalgia rheumatica.
Takayasu arteritis: Asian heritage, women 10–40 years old
Prognosis:
15-year survival is 90%–95%.
Polyarteritis nodose: Hepatitis B or C, Increased age, male gender
Prognosis:
Complications include tissue necrosis and visceral hemorrhage; 5-year Mortality depends on number of
systems involved and is 12%–46%.
Churg-Strauss Disease (allergic angiitis): Asthma
Prognosis:
5-year survival is 25% without Treatment and 62% with treatment (usually due to myocarditis or MI).
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Henoch- Schönlein purpura: Children, Caucasians
Prognosis:
Recurrence in 50% of patients, rare renal insufficiency.
Kawasaki disease: Young children, Asian heritage
Prognosis:
Complications include heart failure, myocarditis, valvular.
Patent ductus arteriosus (PDA) Risk factors:
“Failure of the ductus arteriosus to close at the time of birth resulting in a left-to-right aorta-topulmonary artery shunt”
prematurity
high altitude
first-trimester maternal rubella
maternal prostaglandin administration
female gender
Prognosis:
no complications develop following closure; untreated cases are at a higher risk for CHF, pulmonary
vascular abnormalities, and endocarditis.
{Treatment for a PDA may be remembered with the mnemonic “Come in and Close the
Door”: (indomethacin closes a PDA)}.
Transposition of the great arteries Risk factors:
“Reversal of the systemic and pulmonary circulations in which the aorta originates from the right
ventricle and the pulmonary artery originates from the left ventricle”
Apert syndrome
Down syndrome
cri-du-chat syndrome
trisomy 13 or 18
{Cyanotic congenital heart diseases may be remembered by the 5 Ts: Tetralogy of
Fallot, Total anomalous pulmonary venous return, Transposition of the great vessels,
Tricuspid atresia, and Truncus arteriosus}.
{Significant hypoxemia in an infant that improves minimally with supplemental
oxygen is highly suggestive of transposition of the great vessels}.
Prognosis:
poor prognosis in untreated children with 30% mortality in the first week, 50% in the first month,
and 90% in the first year; 90% of children who undergo arterial reversal survive and are able to lead
normal lives.
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Tricuspid atresia Prognosis:
“Failure of the tricuspid valve to develop”
Untreated disease has a poor prognosis and is associated with severe heart failure and pulmonary
collapse.
Several complications may follow surgical correction including arrhythmias, cardiac thrombosis, heart
failure, and endocarditis.
Postoperative patients have a significant rate of mortality (30%) and do not achieve a level of function
similar to people without the condition.
Persistent truncus arteriosus Prognosis:
“Failure of the aorta and pulmonary arteries to separate during development, resulting in a single vessel
that supplies both the systemic and pulmonary circulations”
90% of patients who undergo surgical reconstruction survive to be discharged to home; reoperation
rates are extremely high during growth to maintain the reconstructed circulations.
Congenital hypercholesterolemia:
Inherited form of hypercholesterolemia in which a genetic defect causes abnormally high levels of total
cholesterol, LDL, and/or triglycerides
Patients have a significantly increased risk of ischemic heart disease
Common types:
The majority of cases of hypercholesterolemia are acquired.
• Familial hypercholesterolemia (FH): autosomal dominant defect in LDL receptors with an
associated increased total cholesterol and LDL; the disease is much more severe in homozygotes
than heterozygotes
• Familial combined hyperlipidemia: hypercholesterolemia and hypertriglyceridemia associated
with an increased hepatic production of apolipoprotein B-100 protein
Prognosis:
Significantly increased risk for ischemic heart disease.
Prognosis is heavily dependent on the ability to control LDL levels.
Patients with homozygous disease have poorer prognosis.
Dilated Cardiomyopathy Prognosis:
prognosis is related to underlying cause (i.e., reversible causes carry a better prognosis); patients
with severe heart failure due to regurgitation carry a yearly 50% risk of mortality.
Restrictive cardiomyopathy Prognosis:
with few treatment options, long-term prognosis is often poor; complications follow those for the
underlying cause and include arrhythmias, mural thrombosis, and sudden death
Chronic constrictive pericarditis Prognosis:
prognosis worsens as signs of right-sided heart failure (due to vascular congestion) worsen and in
general is poor with medical treatments only; prognosis is best for idiopathic and postsurgical
conditions.
Acute pericarditis Prognosis:
may evolve into chronic pericarditis or cardiac tamponade if untreated
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Cardiac tamponade Prognosis:
rapidly fatal without emergent treatment
Infective Endocarditis Risk factors:
IV drug use (IDU)
Presence of structural heart disease
Prosthetic heart valve
Dental procedures involving bleeding
History of endocarditis
Prognosis:
Best prognosis occurs in patients who become afebrile after initiation of treatment and who maintain
negative cultures.
Recurrence is most common within 2 months of having completed an antibiotic course and occurs more
frequently in IV drug users and for cases due to S. aureus, enterococcus, and gram-negative organisms.
Complications include valvular dysfunction, CHF, myocardial abscesses, metastatic infection, septic
embolization, and organ dysfunction
Rheumatic heart disease Prognosis:
valvular damage may progress without treatment; carditis can be fatal if antibiotics are not
prescribed (rare in industrialized nations).
{RHD only occurs in 3% of untreated streptococcal infections, and the overall incidence
is significantly lower in the United States due to standardized antibiotic treatment for
suspected streptococcal infections}.
Myocarditis Prognosis:
complications include heart failure and arrhythmias; poor prognosis is associated with syncope, new
bundle branch block, poor ejection fraction, and new cardiomyopathy.
Septic shock Prognosis:
Prognosis is grim with mortality rates frequently >50%.
Good prognosis is linked to successful maintenance of tissue perfusion and ability to treat underlying
Disease.
Complications include ARDS, DIC, and multiorgan dysfunction.
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{The common presentation of shock is described by the mnemonic CHORD ITEM:
Clammy skin, Hypotension, Oliguria, Rapid breathing, Drowsiness/mental status changes, Irritability,
Tachycardia, Elevated/reduced central venous pressure, Multiorgan dysfunction}.
Arteriovenous malformation (AVM) Prognosis:
bleeding is the key problem and may cause visceral complications depending on the location;
intracranial AVMs have a 4% risk of hemorrhaging per year and account for 2% of all hemorrhagic
strokes.
Claudication/PAD Risk factors:
Smoking*
CAD
DM
Hyperlipidemia
hypertension
increasing age
(erectile dysfunction is not a risk factor but usually occur with claudication).
{Remember the six Ps to grade PVD severity: Pain, Pallor, Poikilothermia,
Pulselessness, Paresthesia, and Paralysis}.
Prognosis:
The number of risk factors correlates with the severity of disease.
12% of patients with a 10-year history of intermittent claudication will require some type of amputation.
Long-term survival of patients with claudication (in the absence of successful treatment) is 70% at 5
years, 50% at 10 years, and 30% at 15 years.
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Dermatology
Melanoma Risk factors:
a. Fair complexion; primarily affects Caucasian patients, especially those with any
of the following:
• Inability to tan
• Easily sunburned
• Red hair and/or freckles
• Numerous moles
b. Sun exposure, especially for:
• Patients with a history of severe sunburn before age 14
• Patients living in a sunny climate
c. Family history of melanoma (e.g., first-degree relative)
d. Genodermatoses (e.g., xeroderma pigmentosa)
e. Increasing age
f. Large numbers of nevi (moles)
• Although most melanomas arise de novo, they may arise from pre-existing
nevi in up to 50% of cases
• Any change in a nevus is concerning because it may indicate malignancy or
malignant transformation. Look for color change, bleeding, ulceration, or a
papule arising from the center of an existing nevus
g. Dysplastic nevus syndrome
• Numerous, atypical moles—These tend to be large with indistinct borders
and variations in color. The chances of a single dysplastic nevus becoming a
melanoma are small
• If dysplastic nevus syndrome and a family history of melanoma are present,
the risk of developing melanoma approaches 100%
h. Giant congenital nevi—The {Women with malignant melanoma have a better prognosis than men
(with equivalent lesions).
Periodic skin checks should be performed in anyone with a history of significant sun
exposure and a positive family history for melanoma.
The most important prognostic factor for melanoma is thickness of lesion (>0.76 mm associated with
increased risk of metastasis).
Prognosis:
the 5-year survival rates are >90% for in situ and small lesions, 45%–80% for lesions deeper than 2
mm, 25%–65% for tumors with some degree of nodal involvement, and <20% for metastatic cases.
{Nevi should be followed to look for the ABCDEs of melanoma—Asymmetry, Border
(irregular), Color (variable), Diameter (>6 mm), and Enlargement}.
Melanocytic nevi
Common benign lesions composed of a proliferation of melanocytes.
History: painless dark skin lesions.
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Prognosis
the prognosis is excellent will little morbidity; patients with a high number of nevi have an increased risk
of developing melanoma.
Squamous Cell Carcinoma Risk factors:
exposure to the sun* (particularly UVB radiation) or to ionizing radiation
prior actinic keratosis
immunosuppression
arsenic exposure
exposure to industrial carcinogens
Use of a good sunscreen (SPF 15 or greater) is important in the prevention of skin
cancer associated with sun exposure.
Prognosis:
the 3-year survival ranges from 70% for large invasive or recurrent lesions to near 100% for small
lesions.
{Use of a good sunscreen (SPF 15 or greater) is important in the prevention of skin
cancer associated with sun exposure}.
Basal cell ca Risk factors:
Sunlight
Basal cell carcinoma is the most common type of skin cancer.
Shave biopsy should never be used to study a suspicious lesion because
it does not provide enough tissue for clear diagnosis and cannot be used to
measure lesion depth.
Prognosis:
excision is curative, but recurrences may recur with partial excisions.
{Basal cell carcinoma is the most common type of skin cancer}.
Actinic keratosis Risk factors:
Sunlight
Prognosis:
the prognosis is good, but there is a 0.1% per year risk of progression to squamous cell carcinoma.
{Sixty percent of squamous cell carcinoma arise from actinic keratoses}.
Acne Vulgaris Risk factors:
male sex
puberty
Cushing syndrome
oily complexion
androgens (due to any cause)
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medications
{There is no proven link between acne and die (e.g., chocolate, fatty foods).
Oral contraceptives (especially some of the newer oral contraceptive pills) help some women with
acne}.
Decubitus Ulcers Risk factors:
immobilization for any reason
peripheral vascular disease
dementia.
(Those at increased risk include debilitated or paraplegic people, nursing home
residents, and people with neurologic disorders).
Cellulitis Risk factors:
Acute skin infection most commonly due to Staphylococcus aureus or group A streptococcus.
Methicillin-resistant S. aureus (MRSA) has evolved as a cause of cellulitis that is difficult to treat because
of antibiotic resistance.
Although MRSA was initially limited to nosocomial transmission, the rates of
community-acquired MRSA have increased significantly in recent years.
Skin and wound cultures are rarely useful in cellulitis because they frequently contain
other normal skin flora or are falsely negative.
IV drug use
DM
immunocompromise
skin penetration
previous cellulitis
vascular or lymphatic dysfunction
Prognosis:
Complications include the extension of the infection into joint spaces, fascia, muscle, or other deeper
tissues.
Abscess formation may result in severe infections.
Recurrent cases may result in lymphedema.
Prognosis is usually very good when the appropriate antibiotic therapy is utilized.
Impetigo
A highly contagious skin infection caused by S. aureus or group A streptococci
Most common in infants and school-aged children.
Children with impetigo should be held out of school until the lesions have resolved to
prevent transmission to other students.
Prognosis
streptococcal glomerulonephritis and scarring are rare complications; lesions rarely resolve without
treatment, but the prognosis is good once treatment is initiated.
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Atopic dermatitis (a.k.a. eczema) Risk factors:
A chronic inflammatory skin rash characterized by dry skin patches with papules.
Both infantile (resolves in the initial few years of life) and adult (recurrent history) forms exist.
asthma
allergic rhinitis
family history
Prognosis:
prognosis is generally good, although a small portion of patients will develop asthma or allergic
rhinitis.
Contact dermatitis
An allergic reaction in the skin due to cutaneous contact (e.g., plants, animal dander) with a given
allergen.
A somewhat similar but more diffuse reaction is seen with ingestion of the allergen.
An allergic reaction occurs through one of two general mechanisms.
Type I: due to mast cell degranulation; light diffuse rash (i.e., urticaria) appears shortly after exposure
and lasts several hours.
Type II: due to lymphocyte activity; measleslike (i.e., morbilliform) rash appears several days after a
second exposure to the allergen (most contact dermatitis cases).
Common causes of allergic contact dermatitis include plants (e.g., poison ivy, poison
oak, etc.), nickel, soaps, and latex.
Use the pattern of a rash to distinguish an external cause (defined shape) from an
internal cause (nondefined distribution) of the rash.
Prognosis
an inability to identify the causative allergen may lead to repeat exposures; secondary bacterial
infection is an uncommon complication.
Porphyria cutanea tarda Risk factors:
A disease resulting from a deficiency of hepatic uroporphyrinogen decarboxylase, an enzyme involved in
heme metabolism.
Exposure to a hepatotoxic substance (e.g., alcohol, tobacco) or history of a hepatic disease (e.g., viral
hepatitis, HIV, hemochromatosis, Wilson's disease) results in the excessive production of sun-sensitive
porphyrins.
alcohol use
hepatitis C
iron overload
estrogen use
tobacco use
Prognosis:
chronic excessive iron stores from porphyrin accumulation increases the risk of cirrhosis and
17
hepatocellular carcinoma.
Acne vulgaris Risk factors:
Inflammation of hair follicles and sebaceous glands associated with Propionibacterium acne infection.
adolescence
androgens (use or elevated levels)
obstruction of skin pores (e.g., exfoliated skin, cosmetic products, personal care products)
Women should have at least two negative urine pregnancy tests before being prescribed oral
isotretinoin.
There is no proven association between acne vulgaris and certain types of food.
Acne usually decreases in severity as adolescence ends. Corticosteroid use and androgen production
disorders are common causes of outbreaks in adulthood.
Prognosis:
prognosis is generally excellent, and most cases resolve by the end of adolescence; scarring may
result from severe cases of cystic acne.
Scabies Risk factor:
Cutaneous infestation by the Sarcoptes scabiei mite.
crowded living conditions
poor hygiene
Prognosis:
infection of close contacts is common; prognosis is excellent with the proper treatment and cleansing.
Burns
Injury to the epithelium and dermis of the skin due to exposure to significant heat, radiation, caustic
substances, or electrical shock
Classified by the depth of involvement
First degree: epidermis only
Second degree: partial thickness dermal involvement
Third degree: full epidermis and dermis and some fatty tissue involvement
Estimation of the surface extent of burns may be classified by the “Rule of 9s”
18
Sunburn results from exposure to ultraviolet radiation from the sun and may occur
on both sunny and mildly cloudy days.
Burns secondary to electrical shock are sometimes called fourth-degree burns
because they may involve muscles, bones, and other internal structures.
Determine the postburn IV fluid resuscitation need with the Parkland formula: lactated
Ringer's solution is given in a total volume of [(4 mL) × (kg body weight) × (%
body surface area burned)]. Half of the volume is given during the initial 8 hours,
and the remaining half is given over the following 16 hours.
Prognosis
is related to the depth of the burn and the BSA involved, with outcomes being worse as each
increases.
Potential complications of acute burns include significant fluid loss, infection, neurovascular impairment,
and significant scarring that compromises function.
Repetitive burns (e.g., sunburn) increase the overall risk of skin cancers.
Herpes simplex
A recurrent viral infection of mucocutaneous surfaces caused by herpes simplex virus 1 or 2 (HSV-1,
HSV-2).
Transmitted through contact with oral or genital fluids.
HSV-1 causes primarily oral disease; HSV-2 causes primarily genital disease.
19
Following primary infection, viral genetic material remains dormant in the sensory ganglia but becomes
reactivated during periods of stress.
Prognosis
herpes meningitis, ocular infection, and bacterial infection of sores are uncommon complications;
maternal transmission to a neonate during delivery can result in severe central nervous system infection
in the child.
Varicella
Infection by varicella zoster virus (a.k.a. herpes zoster) that may present as a primary disease (i.e.,
chickenpox) or recurrent presentation (i.e., shingles).
The primary demonstration of herpes simplex infection is typically more severe than
subsequent flares.
Check the varicella immunity status (i.e., prior vaccination or disease history) in all
pregnant women; varicella immune globulin should be given to all nonimmune
pregnant women who contract the disease.
Immunocompromised patients are at an increased risk for developing
encephalopathy or retinitis as complications from varicella infection.
Prognosis
the prognosis is good in most primary cases.
Molluscum contagiosum
A viral skin infection most frequently seen in children and in patients with immunodeficiencies.
Lesions of molluscum contagiosum are found on the face, torso, and extremities in
children and in the perineal region in adults.
Prognosis
Is excellent.
Seborrheic dermatitis
Chronic hyperproliferation of the epidermis most commonly on the scalp or face
Most common in infants and adolescents
Cradle cap” is seborrheic dermatitis of the scalp in infants.
Prognosis
recurrences are common.
Necrotizing fasciitis
A quick-spreading infection of the fascial planes of an extremity, leading to extensive soft tissue
destruction and systemic infection.
S. aureus and group A streptococci are the most common causative organisms.
20
Prognosis
complications include renal failure, sepsis and septic shock, and scarring; acute mortality is 70%.
Gangrene
Tissue necrosis due to a poor vascular supply or severe infection.
May be classified as either wet or dry, depending on the appearance.
Clostridium is the bacteria most commonly implicated in cases due to infection.
Dry gangrene is gradual necrosis of the skin from vascular insufficiency and features
hard and dry skin. Wet gangrene is necrosis due to acute vascular obstruction or
infection and features blistering and swelling of the involved area.
Prognosis
Prompt treatment carries the best chance for limb salvage.
The need for distal amputations in vascular disease is usually a harbinger for the eventual need of
additional, more proximal amputations.
Cases due to infections can result in systemic involvement.
Skin abscess
A subcutaneous collection of pus most commonly due to staphylococcal bacteria.
May occur as a collection of multiple infected hair follicles (i.e., carbuncle).
Abscesses in the lower back and perineal regions have an increased risk of being due
to anaerobic bacteria.
Prognosis
the prognosis is good if treated in a timely fashion; large abscesses may erode into adjacent areas
(e.g., joint spaces, fascial planes), leading to worsening infection that requires additional treatment.
Hidradenitis suppurativa
A condition of chronic follicular occlusion and apocrine gland inflammation, resulting in recurrent
abscesses in the axilla, groin, and perineum.
Prognosis
fistula formation, chronic infection, and significant soft tissue fibrosis are potential complications;
recurrences are extremely common without some type of wide resection of the involved area
Stevens-Johnson syndrome
A severe hypersensitivity reaction to certain medications, infection, or vaccinations.
Mucous membrane involvement predominates.
Sulfonamides and anticonvulsants are the most common culprit medications.
Prognosis
Prognosis is generally good with a prompt diagnosis.
Potential complications include long-term ocular sequelae (e.g., dry eyes, worsening vision, blurry
vision), hypopigmentation, renal failure, respiratory or cutaneous bacterial infections, and esophageal
strictures.
21
Mortality is 5% per case.
Erythema multiforme
A cutaneous hypersensitivity reaction that is less severe than Stevens-Johnson syndrome.
HSV and Mycoplasma pneumoniae are common infectious causes of erythema
multiforme.
Prognosis
prognosis is good, and most patients recover without any significant sequelae; failure to recognize
the diagnosis may result in a progression to Stevens-Johnson syndrome.
Toxic epidermal necrosis (TEN)
The most severe form of a cutaneous hypersensitivity reaction characterized by significant skin
sloughing and full-thickness epidermal necrosis.
Frequently considered a more extensive variant of Stevens-Johnson syndrome (i.e., >30% of the BSA).
Prognosis
although the prognosis correlates with the extent of BSA involved, mortality is generally >10%.
Pemphigus vulgaris
An autoimmune disorder of autoantibodies to epidermal adhesion molecules, resulting in widespread
blistering.
Separation between epidermal layers occurs to produce blistering.
Occurs in middle-aged and elderly patients.
Prognosis
the prognosis is poor without treatment but has been brought to a 10% mortality rate with the
appropriate therapy; potential complications include cutaneous infections and sepsis.
Bullous pemphigoid
An autoimmune disorder characterized by autoantibodies to the epidermal basement membrane
Separation between the epidermis and dermis occurs to cause blistering.
Most patients are elderly.
Prognosis
the prognosis is better than for pemphigus vulgaris; recurrences are infrequent with long-term
therapy once remission is achieved and blisters have healed.
Psoriasis
An inflammatory skin disorder characterized by keratinocyte hyperproliferation and epidermal
thickening.
Twenty percent of patients with psoriasis also have psoriatic arthritis.
Prognosis
the response of cases to treatment is variable, but the condition is not associated with any mortality.
22
Pityriasis rosea
A mild inflammatory skin disorder in children and young adults characterized by papular lesions on the
trunk and extremities.
Probably related to a viral cause.
Prognosis
the prognosis is excellent although pigmentation changes may occur in some patients.
Erythema nodosum
Inflammation of subcutaneous fat septa, resulting in painful erythematous nodules
Classically seen on the anterior shins.
Occurs due to a delayed immunologic reaction to an infection, collagen-vascular disease, inflammatory
bowel disease, or medication.
Conditions associated with erythema nodosum may be remembered by the mnemonic
SPUD BITS: Streptococcal infection, Pregnancy, Unknown (idiopathic), Drugs, Bechet disease
(autoimmune vasculitis), Inflammatory bowel disease, TB, Sarcoidosis.
Prognosis
the prognosis is excellent, but the underlying cause should be identified.
23
Endocrinology
24
The hormones produced by the pituitary gland may be remembered by the mnemonic
GOAT FLAP: GH (growth hormone), Oxytocin (posterior), ADH (posterior; antidiuretic
hormone), TSH, FSH (follicle-stimulating hormone), LH (luteinizing hormone), ACTH
(adrenocorticotropic hormone), Prolactin.
Diabetes mellitus type 1 (DM type 1):
Rubella, Coxsackie virus, and mumps are viruses that have been associated with onset
of β-islet cell destruction leading to DM type 1.
Impairment or loss of pancreatic insulin production due to an autoimmune destruction of β-islet cells
Strong association with human leukocyte antigen (HLA) DR3, DR4, and DQ genotypes.
Prognosis
Diabetic ketoacidosis may result from acute glycemic instability and poor control.
Complications from chronic poor glycemic control include retinopathy, nephropathy, neuropathy,
impaired wound healing, vascular insufficiency, and atherosclerosis.
➢ Although the life expectancy for type 1 diabetics is somewhat less than for unaffected
individuals, patients should be able to avoid significant complications with tight glycemic
control.
Diabetes mellitus type 2 (DM type 2):
Development of tissue resistance to insulin leading to hyperglycemia and an eventual decrease in the βislet cells' ability to produce insulin.
Background retinopathy involves no neovascularization and constitutes the majority of cases;
Proliferative diabetic retinopathy consists of neovascularization and carries a much higher risk of retinal
hemorrhage.
Diabetic patients are at an increased risk of silent myocardial infarction (MI) because of impaired pain
sensation.
The first step to treating any complication of chronic DM is to improve glycemic control.
Risk factors: family history, obesity, lack of exercise.
Obesity (greatest risk factor)
Genetics
Age (insulin production decreases with age)
Lack of exercise
(The risk of coronary events is greatly reduced if the patient can eliminate or reduce other major
cardiovascular risk factors (smoking, HTN, hyperlipidemia, obesity).
Specific treatment of chronic diabetic complications
1. Macrovascular disease—treatment involves reduction of risk factors (e.g., BP
reduction, lipid-lowering agents, smoking cessation, exercise), a daily aspirin (if
not contraindicated), and strict glycemic control.
2. Nephropathy—ACE inhibitors, benefits of which include:
a. Slow progression of microalbuminuria to proteinuria.
b. Slow decline of GFR.
3. Retinopathy—Treatment involves referral to an ophthalmologist and possible
photocoagulation.
4. Neuropathy—Treatment is complex. Pharmacologic agents that may be helpful
include NSAIDs, tricyclic antidepressants, and gabapentin.
25
For gastroparesis, a promotility agent such as metoclopramide can be helpful, in addition to exercise
and a low-fat diet.
5. Diabetic foot—The best treatment is prevention: regular foot care, regular podiatrist
visits. Amputation is a last resort.
Prognosis
➢ Prognosis is directly linked to the ability to control glucose levels and avoid the development of
Complications.
26
DKA:
Inciting factors for DKA and HHNC may be remembered by the mnemonic PHAT MINDS: Pancreatitis,
Hot weather, Alcohol, Trauma, MI, Insufficient water intake, Noncompliance with therapy, Drugs,
Stroke.
Prognosis
prognosis is generally excellent with prompt treatment, but comatose patients carry a poor
prognosis.
Hyperosmolar hyperglycemic nonketotic coma:
Hyperosmolar hyperglycemic nonketotic coma (HHNC) may result from acute glycemic instability and
poor control.
Prognosis
complications include multisystem organ dysfunction and MI; mortality is up to 20%.
Hypoglycemia:
Prognosis
easily treatable conditions have an excellent prognosis, but the prognosis for untreatable diseases
is poor; untreated hypoglycemia leads to tissue death and mortality.
27
Graves Disease:
Causes of hyperthyroidism and how they are differentiated with a thyroid scan may be remembered by
the mnemonic “Lots (of) Thyroid Never Fails in Giving Anxiety”: Low thyroid scan uptake—Thyroiditis;
Normal thyroid scan uptake—Factitious hyperthyroidism; Increased thyroid scan uptake—Graves
disease, Adenomas.
Prognosis:
Most patients respond well to therapy with a resolution of their hyperthyroidism.
Patients will typically require thyroid hormone replacement therapy following thyroid ablation or
resection.
If Thyroid storm
Acute severe hyperthyroidism resulting from a significant release of thyroid hormones.
May be caused by stressful events (e.g., illness, pregnancy) or may be a rare reaction to changes in
therapy.
Symptoms, signs, and lab findings are similar to typical hyperthyroidism but are more severe.
Treated with an aggressive combination of β-blockers, corticosteroids, thionamides, IV iodide, and
appropriate definitive therapy.
Mortality is up to 50%.
Toxic multinodular goiter/toxic adenoma (a.k.a. Plummer disease):
Prognosis
prognosis is good with definitive treatment; hypothyroidism occurs at a lower rate than for Graves
disease following radioactive iodine therapy.
Subacute thyroiditis (a.k.a. de Quervain thyroiditis):
Prognosis
almost all patients recover fully and have an excellent prognosis; <5% of patients will continue to
have some degree of thyroid dysfunction following recovery.
Silent thyroiditis:
Prognosis
pregnancy-related cases tend to have relapses following future pregnancies and carry a higher risk
of long-term thyroid dysfunction; otherwise, cases typically have an excellent prognosis.
Thyroid cancer:
Risk Factors
Thyroid Cancer Risk factors:
Head and neck radiation (during childhood)
Gardner syndrome and Cowden syndrome for papillary cancer
MEN type II for medullary cancer
Female gender
Aged 20 to 60 years
Poor iodine uptake on a thyroid scan
Solid nodules
Prognosis
prognosis depends on the type of tumor encountered but is best in papillary cancers.
28
29
Heat exhaustion:
Prognosis
the prognosis is excellent with the proper treatment; progression to heat stroke is associated with
worse outcomes.
Hashimoto thyroiditis:
Hashimoto thyroiditis is the most common cause of hypothyroidism in the United States, but iodine
deficiency is the most common cause worldwide.
Chronic thyroiditis due to autoimmune destruction of the gland that results in hypothyroidism.
Thyroid surgery, radioactive iodine ablation, pituitary dysfunction, and medications (e.g., lithium) are
other potential causes of hypothyroidism.
Prognosis
complications include osteoporosis, cardiomyopathy, and myxedema coma from significantly low
thyroid hormone levels; the prognosis is excellent in patients who are correctly diagnosed and are
placed on thyroid replacement therapy.
30
Hypoparathyroidism:
Deficiency of PTH secretion by the parathyroid glands leading to hypocalcemia.
Surgical resection (intended for parathyroid lesions or unintentional during neck surgery) is the most
common cause.
Autoimmune degeneration, congenital dysfunction, hemochromatosis, and Wilson disease are other less
common causes.
Prognosis
Prognosis is good with adequate calcium supplementation.
Nephrolithiasis occurs more commonly in these patients.
Patients with significant PTH deficiency may develop fatal cardiac arrhythmias (i.e., long QT disease)
without calcium supplementation.
Pseudohypoparathyroidism:
Hypocalcemia that results from tissue unresponsiveness to PTH.
Typically occurs as part of the syndrome of Albright hereditary osteodystrophy.
Prognosis
prognosis is good with adequate calcium supplementation; nephrolithiasis and cardiac arrhythmias
are the chief complications.
Hypopituitarism:
The order in which symptoms of hormone deficiencies develop in panhypopituitarism
may be remembered by the mnemonic “Good Luck Finding Treatment (for) Pituitary
Accidents”: GH→LH→FSH→TSH→Prolactin→ACTH.
Deficiency of multiple pituitary hormones, resulting in a corresponding dysfunction in the target glands.
May be due to tumor, hemorrhagic infarction (i.e., pituitary apoplexy), surgical resection, trauma,
sarcoidosis, tuberculosis, postpartum necrosis (i.e., Sheehan syndrome), or hypothalamic dysfunction.
Because some pituitary hormones are kept in a reserve supply and because the target organs may
maintain some autonomous function, the timing of symptoms varies with the deficient hormone.
Prognosis:
if adequate hormone replacement is provided, the prognosis is good; development of severe
deficiencies of hormones may be fatal.
Cushing syndrome
A syndrome of excess cortisol levels due to excess corticosteroid administration, pituitary adenoma (i.e.,
Cushing disease), adrenal tumor, or paraneoplastic ACTH production.
Excess corticosteroid administration is the most common cause of Cushing syndrome; excess ACTH
production by a pituitary adenoma is the second most common cause.
31
Prognosis:
patients who are able to undergo a curative procedure typically have a good prognosis; possible
complications include osteoporosis, infection susceptibility, DM, avascular necrosis of bone,
hypopituitarism, adrenal crisis, and increased mortality from cardiovascular or thromboembolic disease.
Acromegaly:
Excess secretion of growth hormone by a pituitary adenoma.
Patients with acromegaly have insulin resistance (similar to DM type 2) and develop diabetes in 10% of
cases.
Prognosis
sixty-five percent to 85% of patients will be cured by surgical resection; complications include
hypopituitarism, heart failure, DM, spinal cord compression, and vision loss.
32
CAH:
Enzymatic defects in the synthesis of cortisol that result in decreased cortisol, a reactive increase in
ACTH secretion, adrenal hyperplasia, and androgen excess.
Deficient cortisol synthesis is usually not symptomatic in CAH because hyperplasia is
able to maintain cortisol in the low to normal range.
A 21-α-hydroxylase deficiency is the most common form of congenital adrenal
hyperplasia in the United States, but all forms are found in greater frequency in
patients of Jewish heritage.
Although patients with 11-β-hydroxylase deficiency have a deficit of aldosterone, they
still exhibit hypernatremia and hypokalemia because deoxycorticosterone functions
as a mineralocorticoid.
33
Prognosis
Complications include renal failure, DM, growth impairment, cataracts, and infertility.
Failure to provide steroid and mineral corticoid replacement can be fatal if the body is not capable of
compensating from stressful events.
Prognosis is good if adequate hormone replacement is provided.
Psychologic issues are a concern given gender uncertainty issues that may affect these patients.
MEN:
Autosomal dominant syndromes involving the dysfunction of multiple endocrine glands simultaneously.
Dysfunctional glandular activity may be due to hyperplasia or neoplasm.
MEN type 1 may be remembered by the three Ps: Parathyroid, Pancreas, Pituitary.
MEN type 2a may be remembered by the three Cs: Carcinoma of thyroid (medullary),
Catecholamine excess (pheochromocytoma), Calcium excess (hyperparathyroidism).
MEN type 2b may be remembered by the three Ms: Medullary thyroid carcinoma, Medulla of adrenal
tumor (pheochromocytoma), Mucosal neuromas.
Prognosis
for uncertain reasons, the prognosis for these conditions tends to be better than for the isolated
endocrine conditions
34
Addison disease:
Cortisol and aldosterone deficiencies due to autoimmune destruction of the adrenal cortices.
Associated with thyroid diseases, parathyroid diseases, DM, ovarian or testicular failure, cirrhosis, and
Hepatitis.
Secondary corticoadrenal insufficiency has a similar presentation and is due to an insufficient ACTH
Supply.
ACTH secretion may be down-regulated by chronic corticosteroid use.
Insufficient ACTH secretion may result from a pituitary pathology.
Tertiary corticoadrenal insufficiency has a similar presentation and is due to insufficient corticotrophin
releasing hormone secretion for the hypothalamus.
Diabetics who develop Addison disease frequently require decreasing amounts of insulin.
Increased skin pigmentation is not seen in secondary or tertiary corticoadrenal insufficiency.
Prognosis
Untreated chronic disease carries a poor prognosis, but early adequate treatment improves survival.
Addisonian crisis is a severe exacerbation brought on by stress on the body and is characterized by
severe weakness, fever, mental status changes, and vascular collapse; it requires aggressive treatment
and carries a poor prognosis if not recognized early.
Secondary corticoadrenal insufficiency may result from overaggressive cortisol replacement.
Congenital hypothyroidism (a.k.a. cretinism):
Congenital deficiency of thyroid hormones due to a severe in utero iodine deficiency or a hereditary
disorder of thyroid synthesis that leads to growth failure and mental retardation.
35
Prognosis
children not receiving prompt thyroid replacement therapy will have short stature, developmental
delays, and mental retardation.
Phenylketonuria:
A congenital inability to metabolize phenylalanine.
The accumulation of dietary phenylalanine causes mental impairment.
Prognosis
normal cognitive development is expected as long as the patient adheres to the phenylalanine restricted
diet; mental retardation and social impairments result from an accumulation of the protein.
Down syndrome (i.e., trisomy 21)
Genetic disease resulting from autosomal nondisjunction or a genetic translocation in chromosome 21
during gamete formation.
Autosomal trisomies occur less frequently in chromosomes 18 and 13.
Nondisjunction most commonly occurs in maternal germ cells, and the risk of nondisjunction increases
with maternal age (especially after 35 years of age).
Down syndrome is the most common cause of congenital mental retardation when both genders are
considered.
Fragile X syndrome is the most common cause of inherited mental retardation in men.
Prognosis
The degree of mental impairment determines the patient's ability to function in society or the need for
constant care.
Patients typically survive into the fourth decade of life.
Congenital cardiac defects and early Alzheimer disease are the main causes of mortality.
Fragile X syndrome
An X-linked chromosomal disorder associated with mental retardation in men.
Women may be carriers and rarely show any effects of the abnormal gene.
The end of the X chromosome becomes fragile and does not condense normally due to a high number of
terminal CGG codon repeats.
The number of CGG repeats increases with each generation when inherited from a woman but not from
a man.
Prognosis
an individual's ability to function in society and his caretaking requirements will depend on the
severity of mental impairment; a normal lifespan is expected.
Cri-du-chat syndrome
An uncommon genetic syndrome resulting from deletion of the entire p arm of chromosome 5.
Prognosis
patients may die at an early age due to failure to thrive; mental impairments are typically fairly
severe.
36
The differences between Prader-Willi syndrome and Angelman syndrome may be
remembered by the mnemonics POP and MAMA: Prader-Willi, Overeating, Paternal
and Maternal, Angelman, Mood (happy), Animated movements.
37
GI and Liver
GERD Risk Factors:
Obesity; A BMI above 28 increases the risk of GERD
Hiatal hernia; Stomach is pulled up through the diaphragm
Hypercalcemia; Calcium is a second messenger for gastrin. Calcium increases acid production
Zollinger-EIIison syndrome; This gastrinoma massively increases gastric acid output
Medications; Theophylline, diazepam, prochlorperazine, promethazine, and estrogen replacements all
relax the LES
Motility disorders; Scleroderma, gastroparesis (diabetic neuropathy)
Other; Cigarette smoking, xerostomia, caffeine, chocolate, alcohol, Fatty foods, pregnancy and
peppermint.
Prognosis:
the vast majority of patients will respond to pharmacologic treatment; complications of chronic
disease include esophageal ulceration, esophageal stricture, Barrett esophagus, and adenocarcinoma.
Esophageal cancer risk factors:
a. SCC
• Incidence is higher in African-American men than in other groups.
• Most common locations are the upper- and midthoracic esophagus. About one-third may be in distal
10 cm of esophagus.
Risk factors are alcohol and tobacco use, diet (nitrosamines, betel nuts, chronic ingestion of hot foods
and beverages such as tea), human papillomavirus, achalasia, Plummer–Vinson syndrome, caustic
ingestion, and nasopharyngeal carcinoma.
b. Adenocarcinoma
• More common in Caucasians and men (5:1 over women).
• Most common in distal third of the esophagus/gastroesophageal junction (in 80% of cases).
Risk factors: GERD and Barrett esophagus are main risk factors; alcohol and tobacco may not be as
important as in SCC.
{ABCDEF
Achalasia
Barrett’s esophagus (due to GERD)
Corrosive esophagitis
Diverticulitis
Esophageal web
Familial}
The prognosis is poor: Five-year survival rate is about 30% to 40% if locoregional
disease, but only 5% if distant metastasis present at diagnosis.
Gastric Cancer Risk factors:
Severe atrophic gastritis, intestinal metaplasia, gastric dysplasia
Adenomatous gastric polyps, chronic atrophic gastritis
H. pylori infection—threefold to sixfold increase in risk
38
Postantrectomy—many cases reported after Billroth II anastomosis (15 to 20 years after surgery)
Pernicious anemia—threefold increase in risk
Ménétrier disease—10% of these patients develop cancer
High intake of preserved foods (high salt, nitrates, nitrites—smoked fish)
Blood type A
Japanese heritage and living in Japan
Male
Family History
Vitamin C deficiency
{Adenocarcinoma (more common) or squamous cell carcinoma (rare, due to esophageal invasion)
involving the stomach
➢ Ulcerating: dysplastic irregular ulcers that may be confused for PUD
➢ Polypoid: large intraluminal neoplasms
➢ Superficial spreading: mucosal and submucosal involvement only
➢ Linitis plastica: all layers of the stomach are involved; impaired stomach elasticity}
Prognosis:
Superficial spreading type has the best prognosis, linitis plastica has the worst.
Early detection has cure rates up to 70%, but prognosis is poor for any delays in detection (<15% 5-year
survival).
Laryngeal cancer Prognosis:
“Squamous cell cancer of the larynx associated with tobacco and alcohol use”
five-year survival rates are 60% to 85%
Gastric Ulcer and Perforation Risk factors:
Helicobacter pylori infection
NSAID use: 20% prevalence of having an ulcer with NSAID use and 5% incidence of symptoms in the
course of one year
Burns: Curling ulcers
Head injury: Cushing ulcers
Inflammatory bowel disease: Crohn disease
Cancer: the tumor itself becomes ulcerated (Gastrinoma)
Mechanical ventilation: stress gastritis
(Alcohol and smoking DOES NOT cause ulcer disease BUT impairs healing leading to perforation of Ulcer)
{Causes of peptic ulcer disease may be remembered by the mnemonic ANGST HAM:
Aspirin, NSAIDs, Gastrinoma (ZES), Steroids, Tobacco, H. pylori, Alcohol, MEN type I}.
{Causes of GI bleeding can be remembered by the mnemonic FAMED CHIMP GUM:
Fistula, AVM, Mallory-Weiss tear, Esophageal varices, Diverticulosis, Cancer (e.g.,
gastric, colon), Hemorrhoids, Infectious diarrhea, Mesenteric ischemia, PUD,
Gastritis, Ulcerative colitis, Meckel diverticulum}.
Prognosis:
complications include significant hemorrhage (the gastroduodenal artery in particular with
posterior ulcers), perforation (most common in anterior ulcers), and lymphoproliferative disease;
uncomplicated ulcers typically respond very well to medical therapy.
39
Gastritis:
“Inflammation of the gastric mucosa without full mucosal penetration
Acute variant: rapidly developing superficially erosive lesions in any region of the stomach that are
related to NSAID use, alcohol, corrosive substance ingestion, or stress from severe illness.
Chronic variant: nonerosive lesions most common in the antrum or fundus of the stomach;
1) Autoantibodies for parietal cells induce gastric atrophy (Fundus)
2) H. pylori infection (Antrum)
3) Chronic chemical irritation (e.g., NSAIDs) or biliary reflux”.
Prognosis:
complications include PUD, hemorrhage, pernicious anemia (autoimmune gastritis), and gastric
cancer (H. pylori gastritis).
Acute pancreatitis Risk Factors:
Alcoholism
Gallstones
Medications (didanosine, pentamidine, Flagyl, tetracycline, thiazides, furosemide)
Hypertriglyceridemia
Trauma
Post-ERCP
Prognosis:
Complications include abscess formation, pseudocysts, necrosis, fistula formation, chronic pancreatitis,
hemorrhage, shock, DIC, sepsis, and multisystem organ failure.
Overall mortality is approximately 15%, while severe necrotic disease is associated with a 30% mortality.
Ranson criteria are a common means of predicting mortality based on several objective measurements
at the time of presentation and following admission to the hospital.
{Ranson criteria for increased mortality from acute pancreatitis upon admission may
be remembered by the mnemonic GA LAW: Glucose >200 mg/dL, AST >250 IU/L, LDH >350 IU/L, Age >55
years old, WBC >16,000/mL}.
{Ranson criteria for increased mortality from acute pancreatitis during the initial 48
hours after admission may be remembered by the mnemonic Calvin & HOBBeS:
Calcium <8 mg/dL, Hct decrease >10%, O2 (Pao2) <60 mm Hg, BUN increase
>5mg/dL, Base deficit >4 mEq/L, Sequestration of fluid >6 L}.
Chronic pancreatitis Prognosis:
complications include pseudocyst formation, DM, splenic vein thrombosis, pseudoaneurysm formation,
and obstruction of the pancreatic duct, bile ducts, and duodenum; survival is 70% at 10 years and 45% at
20 years after diagnosis.
Alcohol-related liver disease Prognosis:
prognosis is good in patients who are able to maintain alcohol abstinence but is far worse in
patients with cirrhosis.
40
Hepatitis C Risk factors:
Injection drug use
transfusion before 1989
extensive unprotected sex (rare)
Hepatocellular cancer (HCC) Risk Factors:
Cirrhosis, especially in association with alcohol or hepatitis B or C; HCC develops
in 10% of cirrhotic patients
Chemical carcinogens: e.g., aflatoxin, vinyl chloride, Thorotrast
AAT deficiency
Hemochromatosis, Wilson disease
Schistosomiasis
Hepatic adenoma (10% risk of malignant transformation)
Cigarette smoking
Glycogen storage disease (type 1)
{OCPs are associated with benign hepatic adenoma (vs. HCC)}.
Prognosis:
Complications include cirrhosis, portal vein obstruction, fulminant hepatic failure, and Budd-Chiari
Syndrome.
Paraneoplastic syndromes include hypoglycemia, excessive RBC production, refractory watery diarrhea,
hypercalcemia, and variable skin lesions.
Prognosis is poor with a median survival of 4 years even following resection.
The median survival of unresectable disease is 3 months.
Hepatocellular Adenoma Risk factors:
Benign liver tumor, most often seen in young women (15 to 40 years of age).
Oral contraceptive use
female sex
anabolic steroid use
Cirrhosis:
Causes of cirrhosis may be remembered by the mnemonic HEPATIC:
Hemochromatosis, Enzyme deficiency (α1-antitrypsin), Primary biliary cirrhosis/sclerosing cholangitis,
Alcoholism, Tumor (hepatoma), Infection (hepatitis), Chronic cholecystitis/copper (Wilson disease).
Prognosis:
prognosis is generally poor because the condition is irreversible; severe disease carries a 50% mortality
rate within 1 year.
Wilson disease Prognosis:
Complications include fulminant hepatic failure and cirrhosis.
Prognosis is good in patients who receive adequate treatment before significant hepatic injury occurs.
Patients in which liver transplantation is performed have a better prognosis than patients receiving a
transplant for cirrhosis due to alcoholism or hepatitis.
41
Hemochromatosis Prognosis:
complications include cirrhosis, hepatocellular carcinoma, CHF, DM, hypopituitarism, and
arthrosis; patients without hepatic fibrosis who undergo regular phlebotomy have an excellent
prognosis
Cholangitis Risk factors:
cholelithiasis
biliary cancer
congenital ductal abnormalities
Prognosis:
complications include sepsis, hepatic abscesses, and renal failure; prognosis is poor once other
organ systems are affected by the disease.
{If you see Charcot triad (i.e., right upper quadrant pain, jaundice, and fever), suspect
cholangitis and perform an US or HIDA scan}.
Carcinoma of the Gallbladder Risk factors:
Cholecystoenteric fistula
porcelain gallbladder
cholelithiasis
cholecystitis or cholangitis
biliary tract disease
Prognosis:
five-year survival rates for limited and locally expanded disease are 40% and 15%, respectively.
Cholangiocarcinoma Risk factors:
PSC is the major risk factor in the United States.
Other risk factors include UC, choledochal cysts, and Clonorchis sinensis infestation
(in Hong Kong).
Primary biliary cirrhosis (PBC) Risk factors:
rheumatoid arthritis
Sjögren syndrome
scleroderma
female gender
{Female and Positive antinuclear antibodies (ANA) and antimitochondrial antibodies}.
{Gender, presence or absence of antimitochondrial antibodies, and ERCP distinguish PBC from PSC}.
Prognosis:
Complications include hypercholesterolemia, osteoporosis, malabsorption syndrome, esophageal
dysfunction, renal tubular acidosis, and hepatocellular carcinoma.
Prognosis corresponds with the bilirubin level at the time of diagnosis; the mean survival for a total
bilirubin >2 mg/dL is 4 years, >6 mg/dL is 2 years, and >10 mg/dL is 1.5 years.
42
Primary sclerosing cholangitis (PSC) Risk factors:
ulcerative colitis
male gender
Prognosis:
complications include malabsorption syndromes, cholelithiasis, cholangitis, gallbladder cancer,
and colon cancer; progressive liver failure is inevitable with a median time from diagnosis to the need
for liver transplantation being 12 years.
Gilbert syndrome Prognosis:
patients have an excellent prognosis with no anticipated complications.
Whipple disease Risk factor:
white males with European ancestry
Prognosis:
seventy percent of patients will have complete resolution of symptoms if treated (30% will have
relapses); mortality is 100% within 1 year if untreated. (Treatment: trimethoprim-sulfamethoxazole
(TMP-SMX) or ceftriaxone for 12 months).
{The characteristic features of Whipple disease may be remembered by the mnemonic
WAD TAMP: Weight loss, Arthralgias, Diarrhea, Tropheryma whippelli, Abdominal
pain, Multiple systems involved, Periodic acid-Schiff used for diagnosis}.
Ulcerative colitis (UC)/ Crohn disease Risk factors:
white
Ashkenazi Jewish heritage
UC Prognosis:
Exacerbations are common with 50% of patients having such an episode within 2 years of diagnosis.
Patients with limited disease tend to have progression of the bowel involvement over time.
After the initial decade of the disease, the risk of developing colon cancer increases by 1% per year.
Complications include the several extraintestinal manifestations, colon cancer, bowel obstruction,
severe hemorrhage, and toxic megacolon.
Crohn Prognosis:
Exacerbations are common over the life of the disease.
Complications include the extraintestinal manifestations, abscess formation, fistula and fissure
formation, and toxic megacolon.
The increased risk of colon cancer is similar to that for ulcerative colitis in patients who have colonic
Involvement.
{Characteristics of ulcerative colitis can be remembered by the mnemonic CECAL
PLUMB: Continuous involvement, Extraintestinal symptoms (e.g., eyes, joints, skin,
liver), Cancer risk, Abscesses in crypts, Large bowel only, Pseudopolyps, “Lead pipe”
colon, Ulcerations, Mucosa depth, Bloody diarrhea}.
43
{Characteristics of Crohn disease can be remembered by the mnemonic CHRISTMAS:
Cobble-stoning, High temperature (fever), Reduced lumen size, Intestinal fistulae,
Skip lesions, Transmural involvement, Malabsorption, Abdominal pain, Submucosal
Fibrosis}.
Chronic Ulcerative Colitis Risk factors for surgery:
Disease present for more than 20yrs
Multiple hospitalizations
Patient need high dose steroids or immunosuppressant
There is toxic megacolon
Mesenteric ischemia Risk factors:
DM
atherosclerosis
congestive heart failure (CHF)
systemic lupus erythematosus (SLE)
peripheral vascular disease
Prognosis:
mortality is 50% for prompt treatment and 90% for missed diagnoses.
{Abdominal pain for ischemic colitis is less severe than small bowel ischemia,
which is significant and out of proportion to the examination}.
Colorectal Cancer Risk Factors:
> 50 years
Previous colorectal cancer
Adenomatous polyps
IBD particularly ulcerative colitis
One first-degree relative < 60 years of age or two first degree relatives of any age
Familial adenomatous polyposis (FAP)
Hamartomatous polyposis syndromes
HNPCC
--------------------------------------------------------------------------------1. Age—everyone over the age of 50 years is at increased risk
2. Adenomatous polyps
a. These are premalignant lesions, but most do not develop into cancer.
b. Villous adenomas have higher malignant potential than tubular adenomas.
c. The larger the size, and the greater the number of polyps, the higher the risk of
cancer.
3. Personal history of prior CRC or adenomatous polyps
4. Inflammatory bowel disease (IBD)
a. Both ulcerative colitis (UC) and Crohn disease pose an increased risk for CRC,
but UC poses a greater risk than Crohn disease.
b. Incidence of CRC is 5 % to 10% at 20 years and 12% to 20% at 30 years with UC.
Begin surveillance colonoscopy for CRC 8 years following the diagnosis of IBD.
5. Family history
a. Multiple first-degree relatives with CRC.
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b. Any first-degree relative diagnosed with CRC or adenoma under age 60.
6. Dietary factors—high-fat, low-fiber diets associated with a higher risk of CRC
7. Familial polyposis syndromes
a. Familial adenomatous polyposis (FAP)
• Autosomal dominant disease caused by hereditary mutations in the APC
tumor suppressor gene.
• Characterized by hundreds of adenomatous polyps in the colon. The colon is
always involved, and the duodenum is involved in 90% of cases. Polyps may
also form in the stomach, jejunum, and ileum.
• The risk of CRC is 100% by the third or fourth decade of life (in 100% of
FAP cases).
• Prophylactic colectomy is usually recommended.
b. Gardner syndrome
• Variant of FAP, autosomal dominant.
• Polyps plus osteomas, dental abnormalities, benign soft tissue tumors, desmoid
tumors, sebaceous cysts.
• Risk of CRC is 100% by approximately age 40.
c. Turcot syndrome
• Can be inherited as autosomal dominant or recessive.
• Polyps plus cerebellar medulloblastoma or glioblastoma multiforme.
d. Peutz–Jeghers
• Autosomal dominant.
• Single or multiple hamartomas that may be scattered through entire GI tract:
in small bowel (78%), colon (60%), stomach (30%).
• Pigmented spots around lips, oral mucosa, face, genitalia, and palmar surfaces.
• Unlike adenomas, hamartomas have very low malignant potential.
• Slightly increased incidence in various carcinomas (e.g., stomach, ovary,
breast, cervix, testicle, lung).
• Intussusception or GI bleeding may occur.
e. Familial juvenile polyposis coli
• Rare; presents in childhood; only small risk of CRC.
• More than 10 and up to hundreds of juvenile colon polyps.
f. Hereditary nonpolyposis CRC—without adenomatous polyposis
• Lynch syndrome I (site-specific CRC)—early-onset CRC; absence of antecedent
multiple polyposis.
• Lynch syndrome II (cancer family syndrome)—all features of Lynch I plus
increased number and early occurrence of other cancers (e.g., female genital
tract, skin, stomach, pancreas, brain, breast, biliary tract)}
{Iron-deficiency anemia in males older than 40 years is considered colon cancer until proven otherwise}.
Prognosis:
prognosis varies with the extent of the disease and corresponds to the Duke classification system
complications include metastases to the liver and lungs, large bowel obstruction, and hemorrhage.
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Colonic Volvulus Risk factors:
Chronic illness, age, institutionalization, and CNS disease increase risk of sigmoid volvulus.
Cecal volvulus is due to congenital lack of fixation of the right colon and tends to occur in younger
patients.
Chronic constipation, laxative abuse, antimotility drugs.
Prior abdominal surgery.
Achalasia Prognosis:
most patients undergoing pneumatic dilation have good outcomes; esophageal rupture is a risk for
EGD or dilation.
Diffuse esophageal spasm (DES) Prognosis:
prognosis is variable and different patient will respond better to different therapies; esophageal
rupture is a risk of myotomy
{Nitrates may relieve pain due to DES but will worsen the symptoms of GERD}.
Zenker diverticulum Prognosis:
surgery has a high rate of successful alleviation of the condition; vocal cord paralysis, mediastinitis, and
recurrence are possible complications of surgery.
Hiatal hernia:
“Herniation of a section of the stomach above the level of the diaphragm
Sliding type: gastroesophageal junction and stomach are displaced above the diaphragm (95% of cases)
Paraesophageal type: stomach protrudes through the diaphragm, but the gastroesophageal junction
remains fixed in the correct location.
sliding hernias frequently respond to H2 antagonists or protein pump inhibitors (PPIs);
paraesophageal hernias and sliding hernias with refractory GERD symptoms may be treated with
gastropexy or Nissen fundoplication.”
{GERD symptoms are usually absent in patients with paraesophageal hiatal hernias}.
46
Prognosis:
complications include incarceration of the stomach with paraesophageal hernias and the sequelae
of chronic GERD with sliding hernias.
Zollinger-Ellison syndrome Prognosis:
Occasionally associated with other endocrine tumors (e.g., multiple endocrine neoplasia 1 [MEN1]).
Sixty percent of tumors are malignant.
Hemorrhage and perforation due to severe PUD.
Nonmetastatic disease has an excellent prognosis.
Diarrhea:
47
{Acute diarrhea lasts <2 weeks and is usually due to infection
Chronic diarrhea lasts longer than 2 weeks and may be due to chronic infection, malabsorption, or
dysfunctional GI motility}.
{Secretory diarrheas are usually hormone mediated or due to enterotoxic bacterial infections
Osmotic diarrheas are due to an increased intraluminal solute concentration that leads to a decreased
reabsorption of water
Inflammatory diarrheas are due to an autoimmune process or chronic infection
Diarrhea is common in immunocompromised patients (e.g., human immunodeficiency virus [HIV],
chronic corticosteroid use) and is typically due to opportunistic pathogens}.
Common pathogens involved in food poisoning are remembered by the mnemonic
“Eating Contaminated Stuff Sometimes Causes Very Big Smelly Vomit”: Escherichia coli (enterotoxigenic,
enterohemorrhagic), Campylobacter jejuni, Staphylococcus aureus, Salmonella, Clostridium botulinum,
Vibrio cholerae, Bacillus cereus, Shigella, Vibrio parahaemolyticus.
Prognosis:
prognosis is good with administration of the proper therapy; uncommon complications include
chronic malabsorption, hepatic damage, and spread of infection to non-GI sites
Celiac sprue Risk factor:
European heritage (white)
Prognosis:
patients who respond to a gluten-free diet have an excellent prognosis; patients with refractory
disease tend to have chronic symptoms.
Tropical sprue Prognosis:
with folate and antibiotic therapy prognosis is generally good.
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Lactose intolerance Prognosis:
patients do very well when following the prescribed diet.
Irritable bowel syndrome (IBS) Prognosis:
IBS is frequently a chronic condition with multiple relapses, but associated with no significant
Complications.
{Half of the patients with IBS will also have a comorbid psychiatric condition}.
Carcinoid tumor:
“Intestinal neoplasm that arises from neuroectodermal cells that function as amine-precursor-uptake
and decarboxylation (APUD) cells.
May be asymptomatic, but common symptoms include abdominal pain, fatigue, weight loss, and
possible painless rectal bleeding.
Most commonly occurs in the appendix, ileum, rectum, and stomach”
{Carcinoid syndrome is seen in 10% of cases}
{The presentation for a carcinoid tumor is frequently confused with that for IBS, and the diagnosis is
commonly delayed}.
{Tumors <2 cm are excised locally or via appendectomy
Tumors >2 cm require a wide resection because of a high risk of metastases
Metastatic disease is treated with chemotherapy, α-interferon (α-IFN), octreotide, or embolization}.
Prognosis:
full resection carries an excellent prognosis; the 5-year survival for metastatic disease is 67%.
Appendicitis Prognosis:
prognosis is excellent with no mortality associated with an unruptured appendix and <1% mortality
in cases of rupture (5% in elderly patients); complications include abscess formation and perforation
without timely treatment.
Hemorrhoids:
“Internal: arise from superior rectal veins above the dentate line and cause painless bright red bleeding
External: arise from inferior rectal veins below the dentate line and may be painful (especially if
thrombosed)”.
Prognosis:
despite a high recurrence rate, most patients who follow conservative treatment recommendations do
extremely well.
{Causes of GI bleeding can be remembered by the mnemonic FAMED CHIMP GUM:
Fistula, AVM, Mallory-Weiss tear, Esophageal varices, Diverticulosis, Cancer (e.g., gastric, colon),
Hemorrhoids, Infectious diarrhea, Mesenteric ischemia, PUD, Gastritis, Ulcerative colitis, Meckel
diverticulum}.
{Patients with painful rectal bleeding or rectal pain require further work-up even if a colonoscopy only
detects internal hemorrhoids (consider fistulas or abscesses)}.
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Diverticulosis Risk factors:
Low-fiber diets: Constipation causes intraluminal pressures to increase
Positive family history
Age >60 years
(Prevalence increases with age).
Prognosis:
complications include progression to diverticulitis or diverticular colitis (i.e., localized colonic
inflammation).
{Diverticular disease is the most common cause of acute lower GI bleeding in patients over 40 years
old}.
Diverticulitis Prognosis:
complications include abscess or fistula formation, bowel obstruction, peritonitis, and sepsis;
cases with a contained bowel rupture have a good prognosis, but cases with peritonitis carry up to a
20% mortality.
Anal fissures Prognosis:
Acute fistulas commonly resolve with supportive care.
Patients with associated anorectal abscesses or IBD are more likely to develop chronic fistulas.
Patients undergoing fistulectomy typically have a good prognosis.
{Acute fistulas will resolve with sitz baths, stool softeners, and a high fiber diet
Chronic fistulas require fistulectomy
Antibiotics are frequently indicated for underlying abscesses}.
Pancreatic Cancer Risk factors:
tobacco smoking* (25% of cases)
familial or inherited (5-10%)
obesity and physical inactivity (smaller number of cases)
chronic pancreatitis
diabetes mellitus (DM)
Heavy alcohol use
Exposure to chemicals—benzidine and β-naphthylamine
Male gender
Pancreatic cancer (exocrine)
Neoplasms of the exocrine pancreas that are most commonly adenocarcinomas.
Most commonly located in the head of the pancreas.
Prognosis:
Migratory thrombophlebitis is a common complication.
Five-year survival following a Whipple resection is approximately 20%.
Five-year survival for unresectable disease is <2% with a mean survival of approximately 6 months.
{Endocrine tumors of the pancreas involve a particular type of glandular tissue, and their presentation
varies with the glands involved}.
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{Insulinomas are almost always solitary; multiple insulinomas may be seen in MEN1.
If Whipple triad is seen (i.e., symptoms of hypoglycemia while fasting, hypoglycemia, and improvement
in symptoms with carbohydrate load), perform a work-up for insulinoma}.
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Hematology
Acute Leukemias Risk factors:
exposure to radiation
myeloproliferative syndromes
Down syndrome
chemotherapy (e.g., alkylating agents)
Sickle cell disease Risk factors:
African or Latin American heritage
Hodgkin Lymphoma Risk factors:
20–40 years old or >60 years old
Non-Hodgkin Lymphoma Risk factors:
EBV
HIV
congenital immunodeficiencies
rheumatic disease
<65 years old
Lead-poisoning anemia:
Prognosis
complications include renal, hepatic, cardiac, and neurologic damage; patients who develop
encephalopathy are at greater risk for chronic symptoms.
Hemolytic anemia:
Anemia that results from a combination of an abnormally shortened RBC lifespan (normally 120 days)
and insufficient marrow replacement of RBCs
Common causes include RBC membrane defects, RBC enzyme defects, hemoglobinopathies, drug
effects, or mechanical damage.
Prognosis
prognosis varies with each etiology of anemia, but generally, patients will do better if they are able
to be separated from the cause of hemolysis.
Iron-deficiency anemia:
Anemia that results from an insufficient supply of iron, leading to an insufficient production of heme.
Common causes include hemorrhage, poor dietary iron intake, poor GI absorption of iron, pregnancy,
and menstruation.
Prognosis
the prognosis is excellent with iron supplementation, but neoplasm as a cause must be ruled out.
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Sideroblastic anemia
Anemia resulting from a defect in heme synthesis that causes a decrease in Hgb levels in RBCs.
May be due to genetic factors or induced by alcohol or INH use.
Prognosis
adverse reactions to vitamin B6 therapy may occur; acute leukemia develops in 10% of patients.
Acute intermittent porphyria
Defect in the metabolism of heme, leading to an accumulation of porphobilinogen and amino-levulinic
acid.
May be caused by a genetic defect or may be drug related.
Prognosis
exacerbations rarely recur if the underlying causes are avoided.
Thalassemia
Defects in Hgb resulting from an abnormal production of heme α-globin and β-globin subunits
The disease state arises from the unbalanced production ratio of subunits and not from the subunits
Themselves.
Normally Hgb is composed of two α-subunits, whose synthesis is controlled by four genes, and two
β-subunits, whose synthesis is controlled by two genes.
α-thalassemia may feature defects in one to four of the genes and is more common in people of
African or Asian descent.
β-thalassemia may feature defects in one or both genes and is more common in people of
Mediterranean descent.
Prognosis
patients with more severe variants of the disease have a high mortality rate due to cardiac and
hepatic failure; chronic iron overload from frequent transfusions may cause cardiac and hepatic
complications.
53
Patients with α-thalassemia minima usually have a normal MCV.
Differentiate between the causes of microcytic anemia using the ratio of MCV to RBC count (i.e.,
Mentzer index): MCV: RBC count >13 suggests iron deficiency; MCV: RBC count <13 suggests
thalassemia.
If microcytic anemia is found on blood smear, rule out thalassemia before administering supplemental
iron to prevent iron overload.
54
Anemia of chronic disease
Anemia common in patients with neoplasms, diabetes mellitus (DM), autoimmune disorders, or chronic
Infections.
Prognosis
prognosis is more dependent on the underlying condition than the anemia itself.
Vitamin B12 deficiency
Anemia that results from an inadequate supply of vitamin B12.
Pernicious anemia is an autoimmune deficit of intrinsic factor, leading to the impaired GI absorption of
vitamin B12.
Acquired causes include poor dietary intake, ileal resection, GI bacterial overgrowth, or a
Diphyllobothrium latum parasitic infection.
Inadequate vitamin B12 intake is usually only seen in strict vegetarians (e.g., vegans).
Folate-deficiency anemia is the most common macrocytic anemia and is caused by poor nutrition (e.g.,
alcoholics) or medications affecting folate metabolism (e.g., methotrexate, phenytoin). Its presentation
is similar to vitamin B12 deficiency except it has no neurologic symptoms, a normal vitamin B12 level,
and a decreased serum folate level. It is treated with folate supplementation.
In cases of poor nutrition, folate deficiency develops significantly more quickly than vitamin B12
deficiency.
Prognosis
the prognosis is more favorable in acquired forms of the disease; chronic neurologic abnormalities
may not improve following therapy.
Sickle cell disease
Autosomal recessive disease in which a defect in the β-globin chain of Hgb leads to the production of
Hgb S, a form of Hgb that is poorly soluble when deoxygenated.
β-globin defect: in sickle cell disease causes production of defective β-chains; in β-thalassemia causes
decreased production of normal β-chains.
Heterozygous carriers of the sickle cell defect (i.e., sickle cell trait) are asymptomatic and carry an
improved resistance to malaria.
Acidosis, hypoxia, and dehydration cause the polymerization of Hgb S, which leads to the distortion of
RBCs into a sickle shape that is susceptible to hemolysis and vascular clumping.
Risk factors: African or Latin American heritage
Complications of sickle cell disease may be remembered by the mnemonic SHARP MALICE: Stroke,
Hemolytic anemia, Auto-splenectomy, Renal necrosis, Priapism, Myocardial infarction, Acute chest
syndrome, Lung infarctions, Infections, Crises (painful or aplastic), Eye disease (retinopathy).
55
Patients with sickle cell disease are particularly susceptible to Salmonella osteomyelitis (although
Staphylococcus aureus is still the most common etiology) and sepsis by encapsulated organisms.
Prognosis
Complications include chronic anemia, pulmonary HTN, heart failure due to cardiac stresses, vascular
insufficiency, renal failure, and infections.
An aplastic crisis may follow infection (typically parvovirus B19) and is notable for severe anemia
requiring aggressive transfusion therapy.
Acute chest syndrome is severe chest pain due to pneumonia, embolization, or pulmonary infarction
and requires pain control and respiratory support.
Auto-splenectomy, stroke, osteonecrosis of the femoral or humeral head, and multiorgan ischemia may
result from vascular occlusion.
Increased risk of infection by encapsulated organisms (e.g., Streptococcus pneumoniae, Haemophilus
influenzae, Neisseria meningitides, Klebsiella).
Despite the multiple potential complications, survival at 18 years of age is 86%.
Mononucleosis
Infection by Epstein-Barr virus (EBV) affecting B leukocytes and oropharyngeal epithelium
Most common transmission is through intimate contact or exposure to saliva.
Symptoms of mononucleosis do not appear until 2 to 5 weeks after infection with EBV.
Prognosis
prognosis is excellent; rare complications include splenic rupture and airway obstruction due to
tonsillar hypertrophy.
X-linked agammaglobulinemia
A defect in B lymphocyte differentiation leading to low B cell and immunoglobulin levels.
Occurs as a X-linked disorder affecting only males, with females acting as carriers.
The presentation of immune disorders does not occur immediately after birth because newborns retain
maternally derived antibodies for approximately 3 months.
Prognosis
patients on IVIG frequently live into their fifth decade.
Leukopenia without immune deficiency
Decreased lymphocyte or neutrophil (i.e., agranulocytosis) counts that are not attributable to an
underlying immune disorder.
May be due to diseases associated with an increased cortisol level, medications (e.g.,
chemotherapeutics, antithyroid drugs, trimethoprim-sulfamethoxazole [TMP-SMX]), radiation, viral
infection (e.g., hepatitis, EBV), or aplastic anemia.
56
Prognosis
prognosis is dependent on the ability to eliminate the inciting factor and restore the depleted
leukocytes.
57
58
59
60
Fanconi anemia
An autosomal recessive disorder associated with bone marrow failure, pancytopenia, and an increased
risk of leukemia.
prognosis
is poor with death frequently occurring in childhood due to bone marrow failure or leukemia; aggressive
use of blood products and marrow stimulation can prolong survival.
Anaphylaxis
A severe type I hypersensitivity reaction following exposure to an allergen (e.g., penicillin, insect stings,
latex, certain foods).
Hypersensitivity reactions are allergen-induced immune responses involving either cellular or humoral
Mechanisms.
The types of hypersensitivity reactions may be remembered by the mnemonic ACID:
Anaphylactic, Complement-mediated, Immune complex-mediated, Delayed.
61
Prognosis
mortality and morbidity correlate with delays in treatment and the inability to maintain a patent
airway.
von Willebrand disease
An autosomal dominant disease of deficient coagulation factor VIII and vWF, leading to abnormal
clotting and platelet function.
vWF functions to mediate platelet adhesion to areas of vascular injury and stabilizes factor VIII.
Multiple degrees of the disease exist that range from mild quantitative defects to severe qualitative
defects associated with severe symptoms.
vWF and factor VIII are the only clotting factors not synthesized by the liver and remain at normal levels
while other factor levels decrease in liver failure.
Prognosis
depends on disease severity; patients with milder forms typically lead normal lives, but those with
severe cases require tight regulation of their coagulation ability.
62
Thrombocytopenia
A decreased number of platelets (i.e., <150, 000), leading to an increased risk of hemorrhage
Causes may be idiopathic, autoimmune, or due to medications or infection.
63
Prognosis
prognosis depends on the ability to correct the platelet deficit, with lower mortality and morbidity
occurring with easily correctable causes.
Vitamin K deficiency
Inadequate vitamin K supply due to poor nutrition, malabsorption, or the eradication of vitamin Kproducing GI flora following prolonged antibiotic use.
Patients using an excessive dose of warfarin may present with a clinical picture similar to that of vitamin
K deficiency.
Prognosis
prognosis is excellent with timely vitamin supplementation.
Hemophilia
X-linked recessive disorder of coagulation factor VIII (i.e., hemophilia A) or IX (i.e., hemophilia B), causing
coagulopathy and several comorbidities.
Hemophiliacs tend to not develop significant bleeds unless they have <5% clotting activity.
Prognosis
Prognosis is most favorable when factor replacement is carefully used to maintain adequate factor
Concentrations.
Recurrent hemarthroses may require eventual joint replacement surgery due to chronic degenerative
Changes.
Transmission of infection (e.g., HIV) from numerous blood product transfusions is an appreciable risk,
especially for patients who have received such products prior to current screening protocols.
Intracranial bleeds can carry severe neurologic sequelae.
Death may occur from uncontrolled bleeding.
Disseminated intravascular coagulation (DIC)
Widespread abnormal coagulation due to sepsis, severe trauma, neoplasm, or obstetric complications.
Prognosis
is poor with a high mortality rate and considerable morbidities due to widespread
hemorrhage and thrombosis.
Signs of thrombotic thrombocytopenic purpurahemolytic uremic syndrome (TTP-HUS)
may be remembered by the mnemonic “Nasty Fever Torched His Kidneys”: Neurologic
deficits, Fever, Thrombocytopenia, Hemolytic anemia, Kidney failure.
64
Human immunodeficiency virus:
A RNA retrovirus (HIV1 and HIV2 are most common strains) that infects CD4 lymphocytes (i.e., helper T
cells) and destroys them, eventually leading to acquired immune deficiency syndrome (AIDS).
Both strains are transmitted in the same manner, share the same risks for opportunistic infections, and
are treated in the same manner.
Compared to HIV1, HIV2 progresses more slowly, is less infectious in the early disease course, is more
infectious in the late disease course, and is less common in the United States.
The HIV virus uses a reverse transcriptase to incorporate its genetic material into the host genome and
to produce copies of the viral DNA.
Transmission occurs via bodily fluids (e.g., blood, semen, vaginal secretions, breast milk).
HIV infection has greatest prevalence in sub-Saharan Africa, where transmission is typically through
heterosexual contact.
It may take up to 6 months for HIV antibodies to appear in the serum.
HIV-positive mothers should not breast feed to reduce risk of transmission.
Compliance with antiretroviral therapy is vital to delaying HIV progression, and the significant side
effects associated with antiretroviral drugs are the major deterrents to good compliance.
Periodic testing of the patient's viral load and CD4 count are important for measuring responses to
treatment and dictating the plan of therapy.
Risk factors for HIV:
homosexual or bisexual males, intravenous drug abuse (IVDA), blood transfusions prior to mid-1980s
(e.g., hemophiliacs), multiple sexual partners, heterosexual partners of other high-risk individuals,
infants born to infected mothers, accidental exposure to bodily fluids (e.g., needle sticks, fluid splashes)
among health care workers (low probability but possible).
Prognosis
HAART drug regimens have decreased mortality rates and have made HIV more of a chronic disease.
The average decrease in life expectancy in patients with HIV is 35 years, and the average lifespan of a
patient after being diagnosed with HIV is 24 years.
The average survival in a patient with <50 CD4 cells per mL is 12 months.
Malaria
Parasitic infection by Plasmodium spp. (i.e., P. vivax, P. falciparum, P. ovale, P. malariae) transmitted by
the Anopheles mosquito.
Although rare in the United States, malaria is very common in other countries such as sub-Saharan
Africa.
65
Prognosis
is typically good once antimalarials are administered; infection with P. falciparum carries
a poor prognosis if not treated.
Sepsis:
Bacteremia with an associated excessive systemic inflammatory response, leading to global tissue
hypoxia.
Common community-acquired pathogens include Streptococcus, Staphylococcus, Escherichia coli,
Klebsiella, Pseudomonas, and Neisseria meningitides.
Common nosocomial pathogens include Staphylococcus, Gram-negative bacilli, anaerobes,
Pseudomonas, and Candida species.
S. aureus is a common cause of sepsis in intravenous drug abusers.
Encapsulated organisms are a more common cause of sepsis in asplenic patients (e.g., sickle cell disease)
than in other patients.
Do not start antibiotics until after the first blood culture has been collected to avoid false-negative
cultures.
Prognosis
prognosis is generally guarded and poor in cases of septic shock; mortality in the latter patient
group may be 50%.
(Recombinant human activated protein C “may” be beneficial in patients with multiorgan failure due to
septic shock).
❖ Acute leukemias tend to exhibit a proliferation of immature cell forms on the bone
marrow biopsy, while chronic leukemias tend to exhibit more mature cells.
Acute myelogenous leukemia:
A hematopoietic malignancy characterized by the overproliferation of myeloid cells in bone marrow
All ages are affected, but the prevalence increases with age.
Prognosis
Only 50% of patients will go into remission following chemotherapy.
Relapse is common, and the prognosis is poor for these patients.
Death usually occurs as a result of infection or DIC.
Acute lymphocytic leukemia (ALL):
A malignant proliferation of immature cells of a lymphoid origin.
Most common in children between the ages of 2 and 5 years.
Whites are affected more frequently than other races.
Most ALL originates in B cell precursors.
ALL is the most common cancer in children.
66
Prognosis
the 5-year survival rate is 85% in children but lower in adults; the presence of a Philadelphia
chromosome carries a poor prognosis.
Chronic myelogenous leukemia:
A malignant proliferation of mature myeloid cells in middle-aged adults.
Appears to be related to prior radiation exposure in some cases.
Tends to follow a stable course for several years before progressing into a blast crisis (i.e., rapid
worsening of the disease) that is typically fatal.
Presence of the Philadelphia chromosome [t(9;22)] or BCR-ABL gene is pathognomonic of CML.
Prognosis
the median survival from the time of diagnosis is <6 years; the development of a blast crisis is
frequently fatal.
Chronic lymphocytic leukemia (CLL):
Malignant proliferation of mature B lymphocytes.
Typically, in patients >65 years old.
CLL and small lymphocytic lymphoma are considered to be the same disease process in
different stages of evolution.
Prognosis
malignant B cells may form autoantibodies that lead to severe hemolytic anemia; the disease may
take an indolent course or may be aggressive with a high mortality rate within 4 years of the diagnosis.
Hairy cell leukemia:
A malignant proliferation of B cells that is similar to CLL but carries a better prognosis.
Sometimes considered an indolent form of lymphoma.
Prognosis
the disease course is indolent and both acute episodes and recurrences tend to respond well to
chemotherapy.
Lymphoma:
Malignant transformation of lymphocytes in the lymph nodes that may spread to the blood stream and
nonlymphatic tissues.
Histologically classified as Hodgkin's or non-Hodgkin's lymphoma.
Prognosis
prognosis tends to be favorable for Hodgkin's lymphoma but much worse for non-Hodgkin's variants.
HL:
Prognosis Good, 80% cure rate unless far-progressed.
NHL:
Poor (months for aggressive types, years for less aggressive variants), worsens with increasing age.
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Polycythemia vera:
Myeloproliferative disorder of bone marrow stem cells, leading to an increased production of RBCs,
WBCs, and platelets.
More common in older individuals and may be a precursor to the development of leukemia.
[The most common explanation for increased RBC production is chronic hypoxia].
Prognosis
complications include stroke, thrombus formation, and leukemia.
Aplastic anemia:
Pancytopenia resulting from bone marrow failure.
May be caused by several medications (e.g., chloramphenicol, sulfonamides, phenytoin,
chemotherapeutics), industrial toxins, viral infection, or idiopathic causes.
Prognosis
prognosis worsens with increasing age and severity, with a 5-year survival of 85% in young patients
with moderate disease and a 20% 5-year survival in elderly patients with severe disease.
Hemolytic disease of the newborn:
Formation of maternal antibodies into fetal blood if there is a difference in ABO or Rh blood types.
Alloimmunization may occur during a prior pregnancy, abortion, or maternal hemorrhage.
Pregnancies following the time of alloimmunization may be complicated by fetal hemolysis.
The severity of hemolysis is mild in 50% of cases and moderate or severe (i.e., fetal hydrops) in 50% of
cases.
Prognosis
if patients are able to be hemodynamically stabilized, there are rarely any long-term effects of
neonatal hyperbilirubinemia or anemia.
Neonatal sepsis
Sepsis that occurs due to maternal transmission during birth or in delayed fashion due to the neonate's
living environment.
Group B streptococcus (GBS), E. coli, H. influenzae, and Listeria monocytogenes are the most common
causes of early sepsis.
Coagulase-negative staphylococci, S. aureus, E. coli, Klebsiella, Pseudomonas, Enterobacter, Candida,
GBS, Serratia, Acinetobacter, and anaerobes may be the cause of delayed sepsis.
Prognosis
the prognosis is good in neonates that are diagnosed early in the disease course; delays in diagnosis
carry a poor prognosis.
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Infectious Diseases
Listeria Risk Factors:
Elderly
Neonates
Steroid use
AIDS or HIV
Immunocompromised, including alcoholism
Pregnant
TB risk factors:
Recent immigrants (in the past 5 years)
Prisoners
HIV positive
Healthcare workers
Close contacts of someone with TB
Steroid use
Hematologic malignancy
Alcoholics
Diabetes mellitus
{Up to 90% of patients respond well to treatment and have a documented cure.
Recurrent cases are most commonly due to new infection.
Untreated cases may be complicated by TB meningitis, bone involvement (i.e., Pott disease), or
widespread dissemination to multiple organ systems (i.e., miliary TB)}.
Reactivated Varicella-Zoster Virus (VZV) Risk factors:
↑ age
Immunosuppression
Encephalitis Risk factors:
AIDS—patients with AIDS are especially at risk for toxoplasmosis when the CD4 count is <200
Other forms of immunosuppression
Travel in underdeveloped countries
Exposure to insect (e.g., mosquito) vector in endemic areas
Exposure to certain wild animals (e.g., bats) in an endemic area for rabies
(The overall mortality associated with viral encephalitis is approximately 10%).
HIV Risk factors:
homosexual or bisexual males
intravenous drug abuse (IVDA)
blood transfusions prior to mid-1980s (e.g., hemophiliacs)
multiple sexual partners
heterosexual partners of other high-risk individuals
infants born to infected mothers
accidental exposure to bodily fluids (e.g., needle sticks, fluid splashes) among health care workers (low
probability but possible
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Nephrology and Genitourinary
Acute renal failure:
Prerenal causes include hypovolemia, sepsis, and renal artery stenosis
Intrarenal causes include ATN (e.g., drugs, toxins), glomerular disease, and renal vascular disease
Postrenal disease is due to the obstruction (e.g., stones, tumor, adhesions) of the renal calyces, ureters,
or the bladder.
Prognosis:
Uremia and multiorgan dysfunction are possible complications.
Negative prognostic factors include advanced age, oliguria, need for transfusions, recent surgery,
hypotension, need for vasoactive medications, and multiorgan dysfunction.
Mortality varies with the cause of the disease and may be as high as 70% in severe cases.
{Causes of acute renal failure may be remembered by the mnemonic “Patients with ARF can't VOID
RIGHT”: Vasculitis, Obstruction (e.g., calyces, bladder, or ureters), Infection, Drugs (i.e., acute tubular
necrosis [ATN]), Renal artery stenosis, Interstitial nephropathy, Glomerular disease, Hypovolemia,
Thromboembolism}.
Chronic kidney disease (CKD):
“Progressive damage of the renal parenchyma taking place over multiple years Greater than 90% of the
renal parenchyma is sclerotic or necrotic at the time of diagnosis.
Chronic HTN and DM are the most common causes.”
Prognosis:
complications include uremia with encephalopathy, dangerous electrolyte imbalances, renal
osteodystrophy, and severe anemia; survival is longer with renal transplantation than chronic dialysis.
Interstitial nephropathy/acute tubular necrosis Prognosis:
complications include acute and chronic renal failure, renal papillary necrosis, uremia, electrolyte
imbalances, and anemia; the mortality for full ATN with histologic evidence of renal necrosis is 50%.
Bladder Cancer Risk factors:
Smoking*
Exposure to aniline (rubber) dyes
Chronic bladder infections (e.g., schistosomiasis)
Recurrent UTI
Male gender
Long-term treatment with cyclophosphamide (may cause hemorrhagic cystitis and increase the risk of
transitional cell carcinoma)
Prognosis:
Complications include significant hematuria, urethral obstruction, urinary retention, incontinence, and
bowel obstruction.
Recurrence following treatment is common (up to 25%) and may involve any location along the urinary
tract.
Five-year survival is >80% in early disease but <20% in metastatic disease.
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Testicular Cancer Risk factors:
Cryptorchid testis
Klinefelter’s syndrome
Family History
Prior history of testicular cancer
(Ninety-five percent are germ cell tumors)
{Ninety-five percent of all testicular tumors are of germ cell origin}.
{Germ cell tumors are either seminomatous or nonseminomatous.
Stromal cell tumors may arise from Leydig, Sertoli, or granulose cells.
Germ cell tumors frequently are associated with increased β-hCG (human chorionic gonadotropin) and
α-fetoprotein.
Increased estrogen may be seen with stromal cell tumors}
{Testicular cancer is the most common malignancy in men between the ages of 15 and 35 years}.
Prognosis:
prognosis for early disease tends to be very good, but nonseminomas are associated with a higher
recurrence rate.
Testicular torsion prognosis:
delay of reduction beyond 6 hours of torsion significantly reduces testicular viability.
{If there is strong clinical suspicion for testicular torsion, tests will frequently only delay surgery, so the
patient should be rushed to the operating room as soon as possible}.
Renal Cell Carcinoma Risk factors:
cigarette smoking*
von Hippel–Lindau disease
tuberous sclerosis
cystic kidney disease
cadmium or asbestos exposure
Prognosis:
localized tumors have at least an 88% 5-year survival rate with timely resection; regional disease and
disease with metastases carry 5-year survival rates of 59% and 20%, respectively.
Contrast Nephropathy Risk factors:
preexisting renal insufficiency
diabetes
↓ effective arterial volume
a high volume of contrast
concomitant nephrotoxic medications
Nephrolithiasis Risk factors:
Low fluid intake—most common and preventable risk factor
Family history
Conditions known to precipitate stone formation (e.g., gout, Crohn disease, hyperparathyroidism, type 1
RTA)
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Medications (e.g., loop diuretics, acetazolamide, antacids, chemotherapeutic drugs that cause cell
breakdown [uric acid stones])
Male gender (three times more likely to have urolithiasis)
UTIs (especially with urease-producing bacteria)
Dietary factors—low calcium and high oxalate intake
Prognosis:
potential complications include hydronephrosis, renal failure, recurrent stones, fistula formation, and
ureteral stricture formation; recurrences occur in 50% of cases within 5 years of the first episode.
{The differential diagnosis for adult hematuria can be remembered by mnemonic INEPT GUN: Idiopathic,
Neoplasm (e.g., bladder, kidney, prostate), Exercise, Polycystic kidney disease, Trauma, Glomerular
disease (nephritic, nephrotic), UTI, Nephrolithiasis}.
{Patients with impacted stones will be in pain and will shift position frequently in unsuccessful attempts
to find a comfortable position; patients with peritonitis will remain rigid}.
Acute pyelonephritis Risk factors:
urinary obstruction
immunocompromised
previous pyelonephritis
diabetes mellitus (DM)
frequent sexual intercourse (more than 3 times per week)
spermicide use
intercourse with a new partner
Prognosis:
complications include renal abscess formation, acute renal failure, chronic kidney disease, and increased
risks for preterm labor and low neonatal birth weight in pregnant females; the prognosis for
uncomplicated cases is good.
Urinary tract infection Risk factors:
obstruction
catheterization
vesicoureteral reflux
pregnancy
DM
sexual intercourse
immunocompromise
female gender
{Lower Urinary Tract Infections Risk factors:
1. Female gender—greater risk due to the shorter female urethra and vaginal colonization
of bacteria
2. Sexual intercourse
a. Often the trigger of a UTI in women, thus the term “honeymoon cystitis”
b. Use of diaphragms and spermicides increases risk further (alters vaginal colonization)
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3. Pregnancy
4. Indwelling urinary catheters—risk factor for hospitalized patients
5. Personal history of recurrent UTIs
6. Host-dependent factors—increase risk for recurrent or complicated UTIs
a. Diabetes—diabetic patients are at risk for upper UTI
b. Patients with spinal cord injury
c. Immunocompromised state
d. Any structural or functional abnormality that impedes urinary flow (e.g.,
incomplete voiding, neurogenic bladder, BPH, vesicoureteral reflux, calculi)
7. Male risk factors
a. Uncircumcised males are at higher risk due to bacterial colonization of the foreskin
b. Anal intercourse
c. Vaginal intercourse with a female colonized with uropathogens
(Complicated UTI:
a. Any UTI that spreads beyond the bladder (e.g., pyelonephritis, prostatitis,
urosepsis)—risk factors for upper UTI: pregnancy, diabetes, and vesicoureteral
reflux
b. Any UTI caused by structural abnormalities, metabolic disorder, or neurologic
dysfunction)}
Prognosis:
complications include abscess formation and pyelonephritis; prognosis is excellent unless patient is
elderly, immunocompromised, or has underlying kidney disease.
{Perform a work-up for sexually transmitted urethritis in any male with a suspected UTI because the
symptoms may appear similar}.
Polycystic kidney disease (adult) Prognosis:
End-stage renal disease will occur in 50% of patients before 60 years of age, and renal transplant is a
common need in these patients.
Hepatic and splenic cysts compromise the function of those respective organs.
Intracranial aneurysm may occur in up to 10% of patients.
Other complications include subarachnoid hemorrhage, mitral valve prolapse, diverticulosis, and
nephrolithiasis.
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Nephritic Syndrome:
{The list of nephritic glomerular diseases may be remembered by the mnemonic PIG WAIL:
Postinfectious glomerulonephritis, IgA nephropathy, Goodpasture syndrome, Wegener granulomatosis,
Alport syndrome, Idiopathic crescentic glomerulonephritis, Lupus nephritis}.
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Prognosis:
Children have an excellent prognosis.
Adults with the diagnosis may develop CHF and have mortality rates up to 25%.
Complications include CHF, CKD, and nephrotic syndrome and are more common in adults.
Rhabdomyolysis Prognosis:
one third of cases will be complicated by renal failure; the outcome correlates with the rapidity of
starting therapy.
Psychogenic polydipsia Prognosis:
success in correcting the electrolyte abnormality is tied to the success in treating the underlying disease.
Hypernatremia:
{Causes of hypernatremia may be remembered by the six Ds: Diuretics, Dehydration, Diabetes insipidus,
Docs (iatrogenic), Diarrhea (and vomiting), Disease of kidney (hyperaldosteronism)}.
Prognosis:
complications include dehydration, seizures, and iatrogenic cerebral edema from excessive rehydration;
treatable cases have an excellent prognosis.
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Hyponatremia:
Hypertonic and isotonic hyponatremia are treated with glucose and lipid regulation, respectively.
Hypotonic hypervolemic and euvolemic hyponatremia are corrected with fluid restriction and the
possible use of furosemide.
Hypotonic hypovolemic hyponatremia is corrected with IV saline.
{Pseudohyponatremia is an artifact of hyperlipidemia in which serum sodium falsely appears to be low}.
complications include progressive cerebral damage and central pontine myelinolysis from overly rapid
correction; prognosis correlates with the ability to treat the underlying cause.
Hyperkalemia:
{Causes of hyperkalemia can be remembered by the mnemonic CRAMP KIT: Catabolism of tissues (e.g.,
trauma, chemotherapy, radiation), Renal failure, Aldosterone deficiency, Metabolic acidosis,
Pseudohyperkalemia, K-sparing diuretics, Insulin deficiency, Tubular (renal) acidosis type 4}.
Prognosis:
sudden death or MI may result from cardiac arrhythmias.
{Pseudohyperkalemia occurs from red blood cell hemolysis following blood collection, so potassium
should be measured immediately in drawn blood and increased serum potassium should be confirmed
with a repeat blood sample using a large-gauge needle}.
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Hypokalemia:
Prognosis:
complications include fatal cardiac arrhythmias, ileus, HTN, and insulin resistance; prognosis depends on
the underlying condition.
Hypocalcemia Prognosis:
Serum calcium <8.5 mg/dL
prognosis is good with correction of the deficiency.
Hypercalcemia Prognosis:
Serum calcium >10.5 mg/dL
{Causes of hypercalcemia may be remembered by the mnemonic CHIMPANZEES: Calcium
supplementation; Hyperparathyroidism; Immobility; Milk-alkali syndrome; Paget disease; Addison
disease; Neoplasms; Zollinger-Ellison syndrome; Excess vitamin A; Excess vitamin D; Sarcoidosis}.
complications include nephrolithiasis, cerebral degeneration, fragility fractures, heart failure, and
iatrogenic hypocalcemia; prognosis is very good following successful excision of an abnormal gland.
{Differentiate between familial hypocalciuric hypercalcemia (genetic disorder of calcium-sensing
receptors) and other causes of hypercalcemia by noting a family history of hypercalcemia, low urine
calcium, and absence of osteopenia, nephrolithiasis, and mental status changes in the former}.
{Hypercalcemia is characterized by the rhyming mnemonic “bones” (fractures), “stones”
(nephrolithiasis), “groans” (GI symptoms), and “psychiatric overtones” (changes in mental status)}.
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Benign prostatic hypertrophy (BPH)
BPH develops in the central zone of the prostate adjacent to the urethra and does not predispose
patients to prostate cancer.
Increases in frequency after 40 years of age in men.
Prognosis:
complications include urethral obstruction, hydronephrosis, renal failure, recurrent UTIs, and bladder
stone formation.
{A digital rectal examination and PSA measurement may be performed annually to screen for prostate
cancer in all men older than 50 years old or those with a history of BPH}.
{Prostate cancer is the most common nondermatologic cancer in men; however, lung cancer is the
greatest cause of cancer-related death in males, while prostate cancer is the second highest}.
Prostate Cancer Risk factors:
Age >50yr (most important risk factor)
African-American race
High-fat diet
Positive family history
History of prostatitis
Exposure to herbicides and pesticides—certain occupations, such as farming and work in industrial
chemical industry, present a higher risk
{Adenocarcinoma of the prostate that occurs in the peripheral zone of the gland}.
Prognosis:
Complications from the disease include metastasis and urinary obstruction.
Complications of prostatectomy include incontinence and impotence.
Complications of radiation therapy include incontinence, impotence, and colitis.
Patients with low grade disease have a 5% 15-year mortality rate, moderate 30%–70%, and high 60%–
87%.
Prostatitis prognosis:
prognosis is very good following institution of therapy.
Epididymitis prognosis:
complications include abscess formation and infertility.
{Chlamydia is the most common cause of epididymitis in adolescents and young adults}.
{Supporting the scrotum will not relieve testicular pain in cases of torsion}.
Urethritis:
Infection of the urethra most commonly due to sexually transmitted Neisseria gonorrhoeae or
Chlamydia trachomatis.
Prognosis:
complications are rare and include urethral strictures and abscess formation.
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Cryptorchidism Prognosis:
complications include an increased risk of testicular cancer and infertility.
Hydrocele Prognosis:
prognosis is excellent following correction; there is a risk of inguinal herniation prior to correction.
Varicocele Prognosis:
approximately 60% of patients will have successful treatment of the associated infertility; rare
complications of surgical treatment include hydrocele formation, recurrence, and vascular injury.
79
Neurology
[First-order neurons are preganglionic; second-order neurons are postganglionic.
Upper motor neuron conditions are those that originate in the brain or first-order neurons; lower motor
neuron conditions are those caused by pathology in second-order neurons].
80
Risk factors for stroke:
CVA (stroke) is rare in a person under the age of 60 who does not have clear risk factors
such as:
Age*
untreated hypertension*
atrial fibrillation
diabetes
hyperlipidemia
tobacco smoking
carotid artery disease
TIA
OCP use
illicit drug use (e.g., cocaine, amphetamines)
(are the same as those for myocardial infarction)
{In younger patients, risk factors include oral contraceptive use, hypercoagulable states (e.g., protein C
and S deficiencies, antiphospholipid antibody syndrome), vasoconstrictive drug use (e.g., cocaine,
amphetamines), polycythemia vera, and sickle cell disease}.
Control of Risk Factors for Stroke:
Diabetes to a hemoglobin A1C below 7%
Hypertension
Reduce LDL to at least below 70
Tobacco smoking should be stopped
Prognosis:
Recovery is dependent on the location and the extent of the infarct, patient's age, and medical
comorbidities.
Younger patients and those with limited infarcts carry the best prognosis.
Residual deficits are very common.
Patients with multiple risk factors are at high risk for future strokes in addition to cardiac and vascular
ischemic events.
81
{Risk factors for stroke may be remembered by the mnemonic HEADACHES: HTN, Elderly, Afib, DM,
Atherosclerosis, Cardiac defect (patent foramen ovale), Hyperlipidemia, Excess weight (obesity),
Smoking.
{Causes of stroke in young patients may be remembered by the seven Cs: Cocaine, Cancer, Cardiogenic
emboli, Coagulation (excessive), CNS infection (septic emboli), Congenital vascular lesion, Consanguinity
(genetic disease)}.
{Do not treat HTN immediately following stroke unless it is extreme (>220/120) or if
patient has coronary artery disease (CAD) in order to maintain cerebral perfusion}.
[Atherosclerosis of the carotid, basilar, or vertebral arteries is the most common cause
of thrombotic ischemic stroke].
[The middle cerebral artery is the most common artery involved in embolic ischemic stroke. Most
emboli originate in the heart, aorta, carotid arteries, or intra-cranial arteries].
[Carotid endarterectomy or angioplasty with stenting is performed for carotid narrowing >60% in
asymptomatic men, >50% in symptomatic men, and >70% in symptomatic women].
82
Contraindications to Thrombolytics (Risk factors):
Head trauma within 3 to 6 months
Intracranial hemorrhage at any time in the past
Aortic dissection
Non-hemorrhagic stroke within previous 3 to 6 months
Signs of active major bleeding such as melena
Severe hypertension (above 180/110)
Transient ischemic attack (TIA) Risk factors:
Most TIAs last <2 hours and are recurrent.
Acute focal neurologic deficits that last 24 hours and are due to a temporarily impaired vascular supply
to the brain (e.g., emboli, aortic stenosis, vascular spasm).
HTN
DM
CAD
tobacco use
83
hyperlipidemia
hypercoagulable states
Prognosis
TIAs tend to be recurrent.
Patients have an increased risk of stroke, with 25% of patients having a stroke within 5 years of the
initial TIA.
Severe carotid artery disease significantly increases stroke risk.
Long-term outcomes correlate with successful control of the underlying pathologies.
(Antiplatelet and antilipid medications should be prescribed to any patient with atherosclerosis.
β-blockers, valvuloplasty, or valve replacement should be considered for patients with significant aortic
stenosis.
Carotid endarterectomy or angioplasty should be considered using the same guidelines as for stroke
Patients.
Long-term anticoagulation is required for patients with arrhythmias).
Parenchymal hemorrhage
Bleeding within the brain parenchyma due to excessive HTN (possibly related to stimulant use),
arteriovenous malformation, or cerebral aneurysm.
Prognosis
Prognosis is dependent on the size of hemorrhage.
The early development of significant symptoms carries a worse prognosis.
Complications include permanent neurologic deficits, seizures, spastic paralysis, and death.
Epidural hematoma
Collection of blood between the dura mater and the skull due to arterial hemorrhage.
The most common cause of arterial bleeding is an injury to the middle meningeal artery following blunt
head trauma.
An epidural hematoma may appear to cross the brain midline on CT; subdural hematomas do not.
Prognosis
complications include seizures and neurologic deficits; the prognosis worsens with increasing age,
additional intracranial injuries, decreasing Glasgow coma scale, and delays to intervention.
Subdural hematoma
Collection of blood between the dura and arachnoid meningeal layers due to rupture of the bridging
veins.
Frequently follows head trauma.
If you see mental status changes in an elderly patient with a history of falls, perform a work-up for a
subdural hematoma.
Do not perform a lumbar puncture in patients with a subdural hematoma because of the increased risk
of herniation.
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Prognosis
worsens with increasing age, decreasing Glasgow coma scale scores, and greater pupil
asymmetry.
Subarachnoid hemorrhage
Bleeding between the pia and arachnoid meningeal layers due to rupture of an arterial aneurysm (i.e.,
berry aneurysm) or AVM or due to head trauma.
Berry aneurysms are found more commonly in patients with adult polycystic kidney disease.
Patients may describe the headache in a subarachnoid hemorrhage as the “worst headache of my life.”
Patients with imminent rupture of a berry aneurysm may have multiple, though less severe, sentinel
headaches in the preceding weeks.
If a head CT is negative for a subarachnoid hemorrhage but clinical suspicion is high, perform a lumbar
puncture to better rule it out.
A declining RBC count over successive collection tubes may occur in a traumatic lumbar puncture and
can help differentiate it from xanthochromia.
Prognosis
Mortality ranges from 30% for asymptomatic cases to 90% for cases causing a coma.
Some degree of cognitive impairment following hemorrhage is common.
Long-term neurologic deficits are seen in 25% of cases.
Epidural Abscess Risk Factor:
IV Drug abuser
Parkinson disease
An idiopathic disease of dopamine depletion, loss of dopaminergic striated neurons in the substantia
nigra, and Lewy body formation (i.e., eosinophilic cytoplasmic inclusions) in substantia nigra neurons,
leading to an abnormally increased inhibition of the thalamic-cortical neural pathways.
A similar syndrome may be seen following repeated blunt injuries to the head (e.g., boxers), MPTP
(1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine) intoxication (i.e., a side product of illicit opioid
production), or exposure to certain industrial toxins.
Common signs of Parkinson's disease may be remembered by the mnemonic SMART:
Shuffling gait, Masklike face, Akinesia, Rigidity (“cogwheel”), Tremor (resting).
Prognosis
as the disease progresses, patients become susceptible to other medical comorbidities (e.g.,
pneumonia, dementia, falls) that increase their overall mortality rate.
Essential tremor
Development of a slowly progressive resting or activity-related tremor that is most common in the
upper extremities.
Involves abnormal neural activity in the thalamic-cortical-brainstem pathway.
85
Risk Factors:
Tremor worsens with stress and emotion, tremor resolves during sleep
Prognosis
the tremor is progressive and requires occasional adjustments in therapy.
Normal pressure hydrocephalus
The collection of excessive CSF in the cerebral ventricles and spinal thecal sac.
May be a sequela of subarachnoid hemorrhage or chronic meningitis.
Prognosis
The disease carries an unfavorable prognosis in which a minority of cases improve following
shunting, and complications involving shunt occlusion are common.
Alzheimer Disease Risk Factors:
Slowly progressive dementia due to the development of neurofibrillary tangles, neuritic plaques,
amyloid deposition, and neuronal atrophy of cortical neurons.
Age (Most common)
Hereditary
Down syndrome
Female gender
Alzheimer disease is the most common cause of dementia in adults.
In elderly patients with greater than mild memory loss or dementia, Alzheimer disease is the most
common explanation.
Prognosis:
Dementia is progressive and associated with a worsening ability to perform daily activities and a greater
susceptibility to other medical comorbidities.
Mortality rates are based on the age at the time of diagnosis
Patients diagnosed at 65 may live 10 years
Patients diagnosed at 90 survive <5 years
Vascular Dementia Risk Factor:
hypertension
diabetes
smoking
hyperlipidemia
Distinguish dementia due to Alzheimer disease from that due to multiple cortical infarcts
with MRI. Multiple small lesions or infarcts will be apparent on MRI when there is a vascular cause.
Falls in older people, Risk factors:
Musculoskeletal weakness* (Most common)
Visual impairment
Hearing impairment
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Proprioception
Medications
Postural hypotension
Hypothermia Risk factors:
A body temperature below 95°F (35°C) due to prolonged cold exposure.
Advanced age
Intoxication
Prognosis
complications of prolonged cold exposure and hypothermia include arrhythmias, frost bite,
pneumonia, pulmonary edema, pancreatitis, and disseminated intravascular coagulation (DIC); while the
prognosis for mild cases is good, mortality is >50% for severe cases.
Bacterial meningitis:
Infection of the meningeal tissue surrounding the brain and spinal cord by a bacterial pathogen.
The most common agents of infection vary by age group.
Infection may be caused by close contact with infected individuals, hematogenous spread, local
extension, or exposure of CSF to bacteria (e.g., neurosurgical procedures, skull fracture).
Prognosis
One third of patients will develop neurologic sequelae, including cranial nerve palsies, cerebral infarcts,
and brain abscesses.
Prognosis is best in healthy patients treated promptly with antibiotics.
Immunocompromised patients and the very young and old have worse outcomes.
[While considered “classic” signs of meningitis, Kernig and Brudzinski signs are not reliable signs for
diagnosis and are particularly unreliable in children.
Neurologic examination must be performed before lumbar puncture. If there are signs of increased
intracranial pressure (e.g., papilledema, focal neurologic deficits, pupil asymmetry), do not perform a
lumbar puncture because of the increased risk of uncal herniation.
87
Treat fungal meningitis with amphotericin B, and treat tuberculosis meningitis with the combination of
isoniazid, ethambutol, pyrazinamide, and rifampin].
Viral meningitis (a.k.a. aseptic meningitis).
Meningitis due to infection by an enterovirus, echovirus, herpes simplex virus, lymphocytic
choriomeningitis virus, or mumps virus.
Symptoms in viral meningitis are typically milder than those for bacterial infection.
Prognosis
The prognosis is better than for bacterial meningitis, and most patients fully recover.
Viral encephalitis:
Inflammation of brain parenchyma due to viral infection.
Varicella zoster virus, herpes simplex virus, mumps virus, poliovirus, rhabdovirus, Coxsackie virus,
arbovirus, flavivirus, and measles virus are all common pathogens.
The condition may actually reflect an immunologic response to systemic viral infection.
Prognosis
neurologic sequelae happen in up to 40% of patients and include seizures and motor dysfunction;
mortality varies significantly between causative viruses.
Brain abscess
A collection of purulent material in the brain parenchyma that results from extension of a local bacterial
infection, head wound, or hematogenous spread of bacteria.
Prognosis
the prognosis is poor with any delays to diagnosis or therapeutic intervention.
Guillain-Barré syndrome
An autoimmune demyelinating disorder of peripheral nerves associated with recent infection, surgery,
or vaccination (rare).
Camphylobacter, cytomegalovirus, and Epstein-Barr virus are the most common infectious associations.
Prognosis
Mortality is <10% in the acute setting.
Respiratory compromise is the chief cause of death.
Up to 85% of patients will recover without any long-term sequelae, but others may have prolonged
degrees of motor weakness.
Multiple sclerosis
A progressive demyelinating disease of the brain and spinal cord related to a possible autoimmune
cause.
Most patients are women between 20 and 40 years old.
(The McDonald criteria consider clinical and radiographic findings and are used to define the diagnosis).
Remember that Multiple Sclerosis affects the Myelin Sheath and is more common in
MS. (women) than in MR. (men).
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Highly suspect multiple sclerosis in a young woman with a confusing constellation of neurologic
symptoms. Perform an MRI to look for white matter lesions and a lumbar puncture to look for
oligoclonal bands.
Prognosis
the course of the disease is progressive with one third of patients becoming severely disabled by 25
years after the diagnosis.
Rabies
Rhabdovirus infection transmitted to humans via the bite of an infected animal.
Infection causes a severe encephalitis with neuronal degeneration and cerebral inflammation.
Prognosis
once symptoms develop, mortality is nearly 100%.
(animal bites should be thoroughly cleaned and bandaged; rabies immunoglobulin and vaccine
should be administered promptly to any patient bitten by an infected or suspicious animal)
Cluster headache
A primary headache disorder affecting young men that is poorly understood and typified by recurrent
(i.e., “clustered”) severe headaches.
Clusters may last for a week up to a year.
Alcohol and vasodilators have been suggested as precipitating factors.
Prognosis
the disease course will be episodic in most patients, with a small subset developing near continuous
clusters.
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[Tension headaches are the most common type of headache in adults].
Trigeminal neuralgia
Significant head and facial pain due to compression or irritation of the trigeminal nerve root.
Prognosis
Typically becomes a chronic episodic disease unless nerve decompression is achieved.
Seizure disorder (a.k.a. epilepsy)
Recurrent sudden alterations in cortical neurologic activity due to the excessive synchronized discharge
of cortical neurons in either a focal or generalized distribution of the brain.
Generalized seizures involve the entire cortex. Partial seizures involve focal neurologic deficits and may
progress to secondary generalization (as distinguished from primary generalized seizures).
Anticonvulsant withdrawal is considered for patients after an extended seizure-free
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period of time but is frequently complicated by a recurrence of seizure activity.
Prognosis
Partial seizures have a higher recurrence rate than generalized seizures.
Mortality rates are twice as high in patients with partial seizures compared to the general population
and considerably higher in patients with recurrent generalized seizures.
Overall prognosis correlates with the success in controlling recurrences through medical or surgical
means.
Status epilepticus
Repetitive, uncontrolled seizures without any period of normal consciousness.
Maintenance of a stable airway, breathing, and circulation is important to survival.
Intravenous benzodiazepines and aggressive anticonvulsant therapy are required to break the seizure
Activity.
Acute mortality is >20%.
Postconcussive syndrome
A poorly understood constellation of symptoms that follow head trauma and lasts for several months
after the initial injury
History: symptoms last for a few months and include headache, dizziness, vertigo, tinnitus, nausea,
diplopia, anxiety, fatigue, irritability, sensitivity to noise and light, insomnia, or memory impairments.
Prognosis
most patients recover within 3 months; up to 15% of patients will have chronic symptoms (more
common in patients reporting dizziness).
Spinal cord compression
Excessive pressure on the spinal cord or cord transection due to traumatic injury of the spinal columns,
development of an abscess or tumor in the epidural or periepidural space, degeneration of the spinal
columns or intervertebral discs, or herniation of a ruptured intervertebral disc.
Prognosis
the degree of permanent neurologic injury depends on the degree of cord compromise, the time
until treatment, and the ability to successfully restore sufficient space within the spinal column for the
cord.
Amyotrophic lateral sclerosis (ALS) [One of four types of MND]
Progressive loss of both upper motor neurons and lower motor neurons in the brain and spinal cord due
to degeneration of anterior horn cells.
History: Asymmetric progressive weakness in the face and extremities, no paresthesias, possible
personality changes or impaired judgment.
Signs of upper motor neuron disease (i.e., brain or spinal cord) include spasticity, increased DTRs, and a
positive Babinski sign. Signs of lower motor neuron disease (i.e., peripheral nerves) include flaccid
paralysis, decreased DTRs, fasciculations, and a negative Babinski sign.
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A clinical diagnosis of ALS requires lower motor neuron signs in at least two extremities and upper
motor neuron signs in one region.
Prognosis
half of patients die within 3 years of the diagnosis, most commonly related to respiratory
complications (e.g., pneumonia, respiratory failure).
Myasthenia gravis
Autoimmune disorder in which antibodies for acetylcholine receptors bind to receptors at the
neuromuscular junction and block normal neuromuscular transmission to cause easy fatigability.
Frequently associated with thymoma and thyrotoxicosis.
Most common in young adult women.
If myasthenia gravis is diagnosed in a patient, always perform a chest CT to look for a
thymoma.
Prognosis
patients frequently respond well to treatment, and mortality is very low; mortality in untreated
cases is >25%.
Syringomyelia
Posttraumatic cystic degeneration of the spinal cord due to an unknown mechanism.
A syrinx cavity (i.e., centralized channel within spinal cord) expands and compresses adjacent neural
tissue.
Prognosis
recovery of neurologic deficits worsens as the original size of the syrinx cavity increases;
Charcotlike arthropathy may develop in the upper extremities.
Poliomyelitis
Poliovirus infection of the brain and anterior horn spinal cord neurons, causing motor weakness.
Acute infections have been nearly eradicated due to childhood immunization protocols.
(positive presence of polio-specific antibodies in the serum; CSF analysis is consistent with viral
Meningitis).
Prognosis
mortality is very low with adequate respiratory support; patients will develop a postpolio syndrome
later in life characterized by progressive weakening in the muscle groups that were originally affected by
the disease (due to decreased innervation of muscle groups and the impaired ability to regenerate
neurons).
Charcot-Marie-Tooth disease (CMT)
A disorder of impaired neural conduction due to axonal degeneration or myelin hypertrophy.
History: foot weakness, impaired balance, cold feet, mild paresthesias later in life.
Prognosis
there is no increase in mortality associated with the disease, but leg weakness may limit patient
mobility.
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Complex regional pain syndrome (CRPS) (a.k.a. reflex sympathetic dystrophy, RSD)
Chronic pain syndrome that occurs after trauma due to abnormal neurologic reorganization at the site
of injury.
Pain fibers may become “wired” into sympathetic neuronal pathways to cause an abnormal activation of
pain signals during regular activity.
Prognosis
better outcomes are seen with earlier aggressive therapy and in younger patients.
Primary brain neoplasm
Brain tumors that arise within the brain parenchyma or meninges.
(Tests:
MRI will detect a ring-enhancing lesion with associated cerebral edema.
PET scan is useful for determining the extent of the tumor.
Biopsy (either CT-guided or during surgical debulking) provides a histologic diagnosis.)
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Prognosis
is poor, and the median survival is 8 months.
Metastatic brain neoplasm
Brain tumors that have metastasized from a distant source.
Lung, breast, kidney, gastrointestinal, and melanoma are the most common types of primary tumors.
Glioblastoma multiforme is the most common primary brain tumor in adults.
Medulloblastoma is the most common brain tumor in children.
Metastatic brain tumors are more common than primary tumors.
Most metastases to the brain are supratentorial.
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Prognosis
is poor with a median survival <1 year.
Neurofibromatosis
Autosomal dominant disorders characterized by the growth of neurologic tumors
Neurofibromatosis type I is most common
Characterized by multiple neurofibromas (i.e., tumors with a mix of Schwann cells, fibroblasts, and mast
cells) and dermatologic signs.
Due to an abnormal NF1 gene on chromosome 17.
Neurofibromatosis type 2 is linked to chromosome 22 and is characterized by the development of
bilateral acoustic neuromas.
Diagnostic criteria for neurofibromatosis type 1 may be remembered by the mnemonic
COFFINS: Café-au-lait spots, Optic glioma, Freckling, Familial history, Iris
hamartomas, Neurofibromas, Skeletal lesions.
Prognosis
potential complications include an increased risk of cerebral malignancy, developmental delays, mental
retardation, peripheral neuropathy, pheochromocytoma, vision loss, bony pseudoarthroses and
nonunion of fractures, and seizures; life expectancy is slightly decreased compared to unaffected
individuals.
Persistent vegetative state
A form of coma lasting greater than a month in which the patient has normal sleep cycles, an inability to
perceive and interact with the environment, and preserved autonomic function.
(brainstem reflexes may be present).
Prognosis
coma lasting >3 months rarely results in recovery.
Locked-in syndrome
Injury of the brainstem, rendering the patient severely quadriplegic with retained consciousness.
The patient is still be able to communicate through eye blinks or other upper cranial nerve motor
function.
History: appropriate history of brainstem injury, maintained awareness and communication (may be
subtle and easy to overlook), possible ventilator dependence.
Prognosis
prognosis is poor with rare recovery.
Spina bifida
A failure of neural tube closure during fetal development, resulting in multiple neurologic defects
following birth.
Risk factors: poor prenatal folate intake, anticonvulsant use during pregnancy, gestational DM.
All women trying to conceive should receive folate supplementation to reduce the risk of spina bifida.
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Prognosis
Survival and the avoidance of complications correlate with the size of the defect and an early diagnosis.
Patients with smaller defects and those who receive early treatment live well into adulthood and are
able to cope better with any physical limitations.
Complications include impaired mobility, bladder and bowel infections, fractures from falls, cognitive
deficits due to hydrocephalus, and lower limb contractures.
Cerebral palsy
Disorders of motor and possibly cognitive function, resulting from central nervous system damage
sustained in utero or during infantile development.
Most cases result from perinatal complications.
May be classified as spastic (i.e., spastic paresis of multiple limbs) or dyskinetic (i.e., hyperkinetic
movement abnormalities).
Spastic cerebral palsy is due to damage of pyramidal tracts. Dyskinetic cerebral palsy is due to
extrapyramidal pathology.
Risk factors:
prematurity, intrauterine growth restriction, birth trauma, neonatal seizures, cerebral hemorrhage,
perinatal asphyxia, multiple gestations, intrauterine infection.
Prognosis
improvements in rehabilitation and coordinated care have increased the life expectancy of these
patients well into adulthood, but lifelong care is frequently required on some level to optimize function.
Childhood hydrocephalus
The development of hydrocephalus in children due to either the obstruction of CSF circulation in the
ventricles (i.e., noncommunicating) or the dysfunction of subarachnoid cisterns or arachnoid villi (i.e.,
communicating).
Prognosis
complications include cognitive impairments, seizure disorder, and an increased risk of neurologic
infections due to shunting; adequate treatment can allow children to lead relatively normal lives, but
untreated cases are fatal within 3 years in half of the cases.
Duchenne muscular dystrophy
An X-linked disorder resulting from a deficiency of dystrophin in muscle.
Most common lethal muscular dystrophy.
The onset typically occurs between two to six years of age.
Becker muscular dystrophy is a less severe deficiency of dystrophin that presents in similar fshion except
that symptoms are less severe.
Prognosis
patients develop progressive cardiopulmonary compromise, scoliosis, and flexion contractures;
death typically occurs by before the third decade of life due to respiratory complications.
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Febrile seizures
Childhood seizures that occur between the ages of 6 months to 6 years that are associated with the
occurrence of a high fever (concurrent illness, tonic-clonic seizure lasting <15 minutes and fever >102°F
(38.9°C) AND negative CSF).
They occur in the absence of neurologic infection, cerebral lesions, metabolic abnormalities, or a history
of prior afebrile seizures.
Febrile seizures are the most common seizures in children.
Prognosis
Thirty-five percent of children with a first febrile seizure have a recurrence.
The risk of epilepsy in a child with a history of a febrile seizure is mildly greater than the general
Population.
Atypical seizures have a greater recurrence rate and a greater association with epilepsy. (Consider
childhood seizures occurring at a fever temperature <102°F or for longer than 15 minutes to be atypical
and requiring a more thorough work-up).
Otitis media
Infection of the middle ear caused by Streptococcus pneumoniae, Haemophilus influenzae, Moraxella
catarrhalis, Streptococcus pyogenes, or a virus.
Children are predisposed to the infection because their auditory canal is shorter and more horizontal
than that in an adult.
Prognosis
The overall prognosis is excellent.
Hearing loss frequently improves to some degree following successful treatment.
A very low number of cases may be complicated by mastoiditis, meningitis, brain abscess, or
labyrinthitis.
Otitis externa
Infection of the outer ear most commonly due to Staphylococcus aureus, Pseudomonas, or
Staphylococcus epidermis.
More common in swimmers.
Prognosis
the prognosis is excellent, and cases typically resolve after the initiation of therapy
Congenital hearing loss
Inborn hearing deficits frequently associated with a syndromic illness involving abnormal facial and
cranial development.
Prognosis
these disorders are often difficult to treat, and appropriate therapy and adaptive training are
frequently the most important contributions to helping these patient lead more normal lives.
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Ménière disease (a.k.a. endolymphatic hydrops)
Vertigo caused by the distension of the endolymphatic compartment of the ear.
The cause is poorly understood but a genetic component seems to play a role in the pathology.
Prognosis
the prognosis is inconsistent with some patients responding well to treatments and others suffering
significant permanent hearing loss.
Benign paroxysmal positional vertigo (BPPV)
Vertigo caused by a dislodged otolith in the inner ear that interferes with semicircular canal stabilization.
Prognosis
prognosis is good with a low recurrence rate.
Acoustic neuroma (a.k.a. acoustic schwannoma)
Benign Schwann cell tumor of the auditory-vestibular nerve, leading to hearing loss.
Prognosis
facial weakness resolves following excision; hearing tends to improve to some degree after excision.
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Ophthalmology
99
Close angle glaucoma Risk factors:
Family history
female gender
Hyperopia (can’t see close objects).
age > 40–50
Asian ethnicity (Asian or Eskimo ancestry (increased incidence of acute angle-closure glaucoma))
African-American race (increased incidence of open-angle glaucoma)
History of significant eye trauma or intraocular inflammation
Steroid medications
Closed-angle glaucoma is typically unilateral.
Never induce additional pupil dilation during an examination of the patient with suspected closed-angle
glaucoma because it will acutely worsen the condition.
Open-angle glaucoma Risk factors:
A gradual increase in intraocular pressure, leading to progressive vision loss.
Open-angle glaucoma is more common than closed-angle glaucoma.
Any patient who requires frequent changes of lens prescriptions should be suspected for having
glaucoma, and tonometry should be performed to rule out the condition.
Increased age
DM
Myopia (can’t see far objects).
Family history
African heritage
Prognosis
prognosis correlates with the ability to normalize intraocular pressure; poor pressure control
results in progressive vision loss and blindness.
Age-related Macular Degeneration Risk factors:
Atrophic (slow) or exudative (rapid) degeneration of the retina leading to retinal fibrosis and permanent
vision loss.
The main risk factor is advanced age.
Other risk factors are
female gender
Caucasian race
Smoking
HTN
Family history
Prolonged sun exposure
{Most common causes of visual impairment/loss in developed countries:
• Diabetic retinopathy (most common cause in adults <65 years)
• ARMD (most common cause in adults >65 years)
• Cataracts
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• Glaucoma}
Prognosis
prognosis is poor for the exudative type with a gradual loss of vision; the atrophic type is
associated with a slower progression of vision loss.
Cataracts Risk factors:
Clouding of the lens of the eye, leading to progressive vision loss.
old age
cigarette smoking
Alcohol
glucocorticoid use
prolonged UV radiation exposure
trauma
diabetes
Wilson disease
Down syndrome
Certain metabolic diseases
Prognosis
The prognosis is good with lens replacement.
Patients are at a risk for accidents due to impaired vision prior to treatment.
Complications from lens replacement surgery may cause permanent visual deficits.
Retinal detachment Risk factors:
Separation of the retina from the adjacent epithelium leading to an acute loss of vision.
trauma
cataract surgery
myopia
family history
Prognosis
the degree of retinal involvement and the time until repair correlate with the degree of vision
loss; vision may not be fully restored following retinal reattachment.
Retinal vessel occlusion
Occlusion of a retinal artery or vein resulting in the sudden loss of vision.
Most commonly occurs as a sequela to atherosclerosis, DM, HTN, or thromboembolic disease.
History:
Retinal artery occlusion: sudden, painless loss of vision (cherry red spot)
Retinal vein occlusion: slow, painless loss of vision (cotton wool spots)
Prognosis
the degree of vision loss correlates with the time until treatment occurs.
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Conjunctivitis
Inflammation of the eye mucosa that occurs as a result of viral infection, bacterial infection, or an
allergic reaction.
Typically, highly contagious and spread by close contact or through towels and linens.
Adenovirus is the most common cause.
Staphylococcus aureus and Streptococcus pneumoniae are common bacterial causes.
Neisseria gonorrhoeae and Chlamydia trachomatis may be transmitted by sexual contact or to a
newborn by an infected mother.
Prognosis
prognosis is good, but N. gonorrhoeae infections require aggressive therapy to prevent
secondary meningitis.
Uveitis
Inflammation of the iris, choroids, and ciliary bodies due to infectious (e.g., viral, syphilis), autoimmune
(e.g., ankylosing spondylitis, juvenile rheumatoid arthritis), or inflammatory (e.g., ulcerative colitis,
Crohn disease) conditions.
May occur as an anterior or posterior eye process.
History:
Anterior uveitis: eye pain, photophobia
Posterior uveitis: blurry vision
Prognosis
the prognosis is good with treatment; an acute increase in the intraocular pressure is a rare
complication and may cause permanent visual deficits.
Corneal abrasion
Traumatic injury of the corneal epithelial surface.
The injury may occur thorough mechanical means or due to chemical exposure.
Prognosis
the prognosis is good with most injuries healing in <2 days; inadequately treated abrasions that
ulcerate may result in permanent vision deficits.
Retinoblastoma
Malignant tumor of the retina found most commonly in children.
Most common intraocular tumor in children.
Cases may be due to a new mutation in the RB1 gene or a hereditary gene defect.
Prognosis
overall survival is 85%, but this rate decreases with extension of the tumor posterior to the globe.
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Respiratory
Pulmonary Embolism (PE)/DVT Risk factors:
• Age >60 years
• Malignancy
• Prior history of DVT, PE
• Hereditary hypercoagulable states (factor V Leiden, protein C and S deficiency, antithrombin III
deficiency)
• Prolonged immobilization or bed rest, long-distance travel
• Cardiac disease, especially CHF
• Obesity
• Nephrotic syndrome
• Major surgery, especially pelvic surgery (orthopedic procedures)
• Major trauma
• Pregnancy, estrogen use (oral contraceptives)
{Remember Virchow’s triad when thinking of risk factors for venous thromboembolism
(VTE):
■ Stasis: Immobility, CHF, obesity, ↑ JVP.
■ Endothelial injury: Trauma, surgery, recent fracture, prior DVT.
■ Hypercoagulable state: Pregnancy, OCP use, coagulation disorders, malignancy, burns}.
{Ninety-five percent of PEs arise from a deep vein thrombosis (DVT) in the lower
extremity.
Risk factors for PE may be remembered by the seven H's: Heredity (genetic hypercoagulability), History
(prior PE or DVT), Hypomobility (fracture, surgery, obesity, travel), Hypovolemia (dehydration),
Hypercoagulability (cancer, smoking), Hormones (pregnancy, oral contraceptive pills [OCPs]),
Hyperhomocysteinemia}.
{Common causes of dyspnea may be remembered by the mnemonic AAAAPPPP:
Airway obstruction, Angina, Anxiety, Asthma, Pneumonia, Pneumothorax, Pulmonary
edema, Pulmonary embolism}.
Prognosis:
as long as lung infarction does not occur, the body will gradually breakdown and reorganize the
embolus; patients without cardiac arrhythmias or significant pulmonary compromise are more likely to
have better outcomes.
complications include recurrent thrombosis, chronic venous insufficiency, and pulmonary embolism
Varicose Veins Prognosis:
patients with severe disease are at a higher risk to develop venous ulcers; majority of patients have
good outcomes with treatment.
{Removal or sclerotherapy of the saphenous vein is discouraged because of its potential
use in bypass grafting}.
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Atelectasis:
Localized alveolar collapse that is common after surgery (particularly abdominal) and anesthesia; also,
may occur in asthmatics, following foreign body aspiration, or from mass effect (e.g., tumors, pulmonary
lesions, lymphadenopathy).
Prognosis:
generally, not clinically serious following surgery; prolonged atelectasis (beyond 72 hours) may
predispose patients to developing pneumonia.
Lung Cancer Risk Factors:
a. Cigarette smoking—accounts for 85% of cases
• There is a linear relationship between pack-years of smoking and risk of lung
cancer.
• Adenocarcinoma has the lowest association with smoking of all lung cancers.
b. Second-hand smoke
c. Asbestos
• Common in shipbuilding and construction industry, car mechanics, painting
• Smoking and asbestos in combination synergistically increase the risk of lung
cancer
d. Radon—high levels found in basements
e. COPD—an independent risk factor after smoking is taken into account
Prognosis
Generally poor prognosis
Small cell lung cancer carries up to a 15% 5-year survival rate for limited disease and <2% 5-year survival
for extensive disease.
Non–small cell lung cancer carries up to a 75% 5-year survival rate for disease with minimal local
extension and no nodal involvement beyond ipsilateral hilar lymph nodes and <15% 5-year survival for
more extensive disease.
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{Forty percent of all solitary pulmonary nodules are malignant}.
{Smoking cessation is the only therapy found to reduce the risk of lung cancer in active smokers}.
{The most common sites of distal metastases for lung cancer may be remembered by
the acronym BLAB: Bone, Liver, Adrenals, Brain}.
Asthma Risk factors:
family history of asthma
allergies
atopic dermatitis
low socioeconomic status
Prognosis:
although some patients may have a gradual resolution of symptoms, others may have consistent or
worsening disease that requires long-term therapy with possible hospitalization for severe
exacerbations.
Sarcoidosis Prognosis:
highly variable disease course; two thirds of patients will have spontaneous resolution, while others
have persistent symptoms of variable severity; <5% of patients will have fatal disease.
Bronchitis Risk factor:
Infection of the upper airways (bronchi), with risk factors including
Cigarette smoking
COPD
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Acute Respiratory Distress Syndrome (ARDS) Risk factors:
Direct: Pneumonia, aspiration.
Indirect: Sepsis (most common), transfusions, pancreatitis, trauma.
Chronic Obstructive Pulmonary Disease Risk factors and causes:
Tobacco smoke (indicated in almost 90% of COPD cases)
−Antitrypsin deficiency—risk is even worse in combination with smoking
Environmental factors (e.g., second-hand smoke)
Chronic asthma—speculated by some to be an independent risk factor
(There are two classic types of chronic obstructive pulmonary disease (COPD):
chronic bronchitis and emphysema)
Prognosis:
smoking cessation is the key to preventing further progression of COPD; continued tobacco use
leads to the development of cor pulmonale and later emphysema.
OSA Risk factors:
Obesity (especially around the neck)—non-obese patients can also have OSA
Structural abnormalities—enlarged tonsils, uvula, soft palate; nasal polyps; hypertrophy of muscles in
the pharynx; deviated septum; deep overbite with small chin
Family history
Alcohol and sedatives worsen the condition
Hypothyroidism (multifactorial)
Prognosis:
The untreated condition is associated with the development of several pulmonary and cardiac
complications (e.g., cor pulmonale, HTN).
The degree of compliance with CPAP affects the success of treatment.
Significant weight loss due to bariatric surgery is associated with resolution of the disease in 86% of
cases.
In patients with documented obstructive sleep apnea the 8-year survival is >95% in patients with an AI
(average apneic episodes per hour) below 20 and 63% in patients with an AI above 20.
{Unlike sleep apnea, a short nap will temporarily relieve the feeling of sleepiness in
patients with narcolepsy}.
Viral pharyngitis Prognosis:
symptoms should resolve over 7 to 10 days with no long-term effects; usually the diagnosis made
and treatment is initiated before study results are reported.
Bacterial pharyngitis and tonsillitis Prognosis:
Symptoms will likely self-resolve even without treatment.
Untreated infection may cause rheumatic heart disease (3% of cases) or scarlet fever (i.e., high fevers
and a rash during a streptococcal infection).
Severe tonsillitis may cause airway obstruction or abscess formation requiring surgical drainage.
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Viral rhinitis Prognosis:
self-limited
Viral influenza Prognosis:
self-limited; complications may arise from dehydration without an adequate fluid intake
Peritonsillar abscess Prognosis:
Respiratory complications and systemic infection can be avoided with prompt drainage.
Long-term risks are similar to bacterial pharyngitis (e.g., rheumatic heart disease, glomerulonephritis).
The recurrence risk argues in favor of tonsillectomy.
Acute sinusitis Prognosis:
Viral disease will self-resolve.
Bacterial disease frequently resolves with an adequate antibiotic course.
Subsequent meningitis is a rare complication.
Chronic sinusitis Prognosis:
“Clinical sinusitis lasting >3 months and most commonly related to sinus obstruction or anaerobic
infection”
acute-on-chronic sinusitis is the most frequent complication; cases resolve with adequate antibiotic
treatment and removal of obstructions that predispose the patient to recurrences.
Dental abscess Prognosis:
Adequate surgical debridement and antibiotics are usually successful to achieve a cure.
Root canal is usually required in an affected tooth that is not extracted.
Untreated abscesses may result in the further local extension of infection.
Acute bronchitis Prognosis:
typically, self-limited; smokers, elderly patients, or patients with preexisting lung diseases may be
at risk for a superimposed secondary respiratory infection.
{Smokers are at risk for developing acute bronchitis due to infection by Streptococcus
pneumoniae and Haemophilus influenzae}.
Acute respiratory distress syndrome (ARDS):
Common causes of ARDS can be remembered with the mnemonic ARDS:
Aspiration/Acute pancreatitis/Air or Amniotic embolism, Radiation, Drug
overdose/Diffuse lung disease/DIC/Drowning, Shock/Sepsis/Smoke inhalation.
Prognosis:
despite improvements in critical care management mortality remains high (40%–50%); surviving
patients frequently suffer lifelong pulmonary impairment to various degrees.
Throughout the differential diagnosis, differentiating ARDS from other diagnoses is more of an issue of
semantics than clinical differentiation because ARDS incorporates characteristics of several other
pulmonary processes; the important keys are realizing that ARDS (and not a single pulmonary process) is
developing in a susceptible patient group and that these patients require aggressive intensive
treatment.
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Cardiac pulmonary edema Prognosis:
Correction of the underlying cause is the key to long-term resolution.
Patients with cardiac causes may have repeat exacerbations if optimal control of fluid status and cardiac
function is not maintained.
Patients with pulmonary edema associated with ARDS must have the underlying condition treated to
avoid continued pulmonary issues.
Pulmonary hypertension Prognosis:
prognosis worsens with development of right-sided heart failure; idiopathic form has a high
mortality rate within a few years of diagnosis.
Cystic fibrosis (CF) Prognosis:
typically presents in childhood and is universally fatal, but improved therapies allow patients to live
into late 20s or 30s.
Bronchiectasis Prognosis:
poor prognosis and typically occurs as end-stage pulmonary disease; associated with cor pulmonale,
massive hemoptysis, and pulmonary abscess formation.
Pneumoconioses Prognosis:
gradual worsening of pulmonary fibrosis at variable rates and the development of progressive
respiratory failure occurs as the condition worsens; may be associated with an increased risk for
malignancy.
Idiopathic pulmonary fibrosis (IPF) Prognosis:
“Inflammatory lung disease of an unknown origin that causes progressive parenchymal fibrosis”
progressive fibrosis with mortality occurring frequently within 5 years.
Goodpasture syndrome Prognosis:
prognosis is generally poor without aggressive treatment (usually due to renal failure)
Wegener granulomatosis Prognosis:
rapidly fatal if untreated; gradual multiorgan deterioration is typical with 30% 5-year survival
Malignant mesothelioma prognosis:
poor prognosis with typical life expectancy following diagnosis of 4 to 18 months.
Pneumothorax prognosis:
the majority of patients treated will rapidly recover well and may be gradually weaned from the
chest tube as the air output decreases; patients with significant open or tension PTX are at high risk for
severe respiratory distress and may require intubation and ventilation.
{The classic patient for a spontaneous simple PTX is a young, thin, and tall male}.
Common causes of PTX may be remembered by the acronym A CHEST IN: Asthma, Cystic fibrosis, HIV
(AIDS), Emphysema, Spontaneous, Trauma, Iatrogenic, Neoplasm.
Hemothorax prognosis
may be complicated by thrombus formation or pleural fibrosis if blood is not drained from the
pleural space; hypotension, anemia, and tissue ischemia may result from significant blood loss.
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Pleural effusion prognosis:
Can cause gradual respiratory collapse if not recognized and treated.
Since typically due to a medical (nontraumatic) cause, treatment of the underlying cause is the key to
prevention of recurrence.
One quarter of all effusions are malignant in nature, so any effusion without a known cause requires a
cancer work-up.
Pulmonary contusion prognosis:
“Lung parenchymal injury due to blunt trauma that may result in significant respiratory compromise”
symptoms can resolve within a week if treated appropriately; some patients will develop chronic
dyspnea and decreased respiratory capacity.
Meconium aspiration syndrome Prognosis:
typically, good outcomes; children may be at a higher risk to develop asthma later in life.
Transient tachypnea of the newborn Prognosis:
symptoms tend to resolve within hours of the initiation of treatment.
Carbon monoxide poisoning Prognosis:
cardiac ischemia, significant metabolic acidosis, coma, and very high HgbCO levels follow
significant poisoning and are associated with a poor outcome; abnormalities on head CT are associated
with permanent neurologic injury.
Near drowning Prognosis:
complications include pneumonia, ARDS, neurologic injury, and multiorgan failure; up to 60% of
patients requiring cardiopulmonary resuscitation on arrival to the emergency department will die.
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Rheumatology
Carpal tunnel syndrome:
A syndrome of median nerve dysfunction, resulting from compression of the nerve at the wrist by the
transverse carpal ligament.
More common in 30- to 55-year-olds
Risk factors pregnancy, rheumatoid arthritis (RA), DM, acromegaly, hypothyroidism, obesity, overuse
activity (e.g., typing, writing, piano playing), female gender.
Prognosis
ninety percent of patients will experience an improvement in their symptoms following surgical
release; complete restoration of strength and sensation may not occur in long-standing cases.
Spinal stenosis
A generalized narrowing of the spinal foramina due to arthritic changes.
Results in the symptomatic compression of exiting nerve roots.
More common in middle-aged and older adults.
Prognosis
myelopathy may occur in patients with long-standing nerve compression; progression of nerve
compression occurs in almost all patients with lumbar stenosis and one third of patients with cervical
stenosis.
Cervical disc herniation
Degeneration of the vertebral discs, leading to herniation of the nucleus pulposus from the disc and
subsequent nerve impingement.
The normal disc is composed of a ring of dense fibrous tissue (i.e., annulus fibrosis) enclosing a
gelatinous core (i.e., nucleus pulposus).
Disc herniation is most common in the lumbosacral region and second most common in the cervical
spine.
Prognosis
many cases can be treated nonoperatively, but recurrence is more common in lumbosacral
herniations; myelopathy can result from chronic nerve compression.
Brachial plexopathy
Traumatic injury of the brachial plexus, resulting in a peripheral neuropathy involving the distinct injured
nerve roots.
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Prognosis
Recovery corresponds to the degree of nerve injury; traction injuries (i.e., neuropraxia) have the best
chance of recovery, while nerve disruption (i.e., neurotmesis) is associated with a partial recovery of
function at best.
Functional recovery is best in young children.
Nerve regeneration in nerves with some degree of integrity proceeds at about 1 mm per day.
Fracture
Injury to the bone resulting in a discontinuity of the bony architecture.
Most commonly results from trauma, but may also be due to pathologic instability.
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The Ottawa Ankle Rules should be applied to any blunt foot or ankle trauma. If there is
ankle pain and bone tenderness in either malleoli, an ankle x-ray should be performed.
If there is foot pain and tenderness at either the base of the fifth metatarsal or the
navicular bone, get a foot x-ray.
Prognosis
The majority of fractures will heal with adequate stabilization.
Nonunion or malunion of a fracture may result from inadequate stabilization or vascular insufficiency at
the fracture site.
Open fractures are associated with a significantly increased risk of infection.
Joint dislocation
Incongruency of the articular surfaces of a joint due to trauma, deficient stabilizing structures, or
ligamentous instability.
Most shoulder dislocations are anterior in nature and associated with trauma.
Posterior shoulder dislocations are associated with seizures and electrical shock injuries.
Dashboard injuries are a frequent cause of hip dislocations in motor vehicle crashes.
Suspect an axillary nerve injury if a patient has difficulty abducting the arm
(deltoid malfunction) following a shoulder dislocation.
CT is generally more useful in the diagnosis of bone pathology, while MRI is more
useful for soft tissue injuries.
Prognosis
failure to reduce a joint in a timely fashion increases the risk of a permanent neurologic injury; the
risk of future dislocations increases significantly following an initial traumatic dislocation.
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Sprains
Partial or complete tears of the ligaments and surrounding soft tissues in a joint.
The initial treatment for sprains may be remembered by the mnemonic RICE: Rest,
Ice, Compression, Elevation.
Prognosis
partial tears will heal with adequate rest; complete tears with associated joint instability may lead
to early arthritis.
Osteoarthritis (OA)
{Osteoarthritis is characterized by degeneration of cartilage (due to wear and tear) and by hypertrophy
of bone at the articular margins.
By age 65, more than 75% of the population has radiographic evidence of osteoarthritis in weightbearing joints (hips, knees, lumbar spine).
Any joint can be affected, but weight-bearing joints are most commonly involved (hips, knees, cervical,
and lumbar spine)}.
Degeneration of the spinal facet joints can lead to spinal stenosis and nerve compression symptoms.
1. Age
2. Obesity
3. Excessive joint loading (manual labor, athletes, etc.)
4. Trauma
a. Repeated microtrauma—in many cases, a patient’s occupation or athletic activities require repetitive
motions (such as repeated knee bending) that predispose the patient to degenerative joint disease in
later years
b. Macrotrauma (fractures, ligament injuries)—fractures that are intra-articular can cause OA
5. Genetic predisposition
6. Altered joint anatomy or instability (developmental hip dysplasia, dislocation due to trauma,
rheumatoid arthritis, gout, pseudogout)
7. Deposition diseases cause chondrocyte injury, or make the cartilage more stiff
(hemochromatosis, ochronosis, alkaptonuria, Wilson disease, Gaucher disease, gout, CPPD)
8. Hemophilia (hemarthroses)
Causes of joint pain may be remembered by the mnemonic HOT INFARCTS:
Hemarthrosis, Osteoarthritis, Trauma (fracture), Infection (septic joint, osteomyelitis),
Neuropathy, Fibromyalgia, Avascular necrosis, Rheumatic disease (RA, systemic lupus
erythematosus [SLE], ankylosing spondylitis), Crystal disease (gout, calcium pyrophosphate
dehydrate deposition [CPPD] disease), Tumor, Soft tissue (tendon, ligament, meniscus).
A diagnosis of osteoarthritis is typically based on the history, physical examination,
and x-rays, and joint aspiration and laboratory testing is rarely indicated in the
diagnosis.
Intra-articular corticosteroid injections should not be performed regularly at <3-month
intervals because of the increased risk for infection and soft tissue rupture.
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Prognosis
Most patients will have worsening of their joint pain with time as joint degeneration progresses.
Intra-articular injections provide temporary relief, but repeat injections are frequently due to the
recurrence of pain.
Joint replacement is associated with approximately a 95% satisfaction rate regarding pain relief and
restoration of function.
Rheumatoid arthritis
A chronic inflammatory arthropathy with infiltration of the synovial joint tissues by inflammatory cells
and progressive erosion of both cartilage and bone.
Synovial hypertrophy with the formation of granulation tissue on the articular cartilage (i.e., pannus
formation) occurs due to chronic joint inflammation.
Most commonly seen in middle-aged women and those with a human leukocyte antigen (HLA) DR4
serotype PIP and metacarpophalangeal (MCP) joints in the hands are frequently the first affected.
A symmetric polyarthropathy involving the other major joints occurs after the initial joint development.
OA: typically, asymmetrical and may only affect one joint; the DIP joints are
frequently involved in the hands.
RA: affects joints on both sides of the body in a symmetrical distribution; the DIP.
joints are spared in the hands.
RA markedly worsens the effects of the usual risk factors for atherosclerosis such as hypertension,
hyperlipidemia, diabetes, or tobacco smoking and RA people most common cause of death would be
from Heart attack.
Prognosis
in the absence of antirheumatic medications the disease is progressive and occasionally debilitating.
Meniscal tear
Injury to the cartilaginous meniscus of the knee, causing altered knee mechanics
Results from repetitive meniscal microtrauma and degeneration or an acute forceful twisting of a
planted knee.
Frequently associated with tears of the anterior cruciate ligament (ACL) of the knee.
History: deep knee pain, locking of the knee.
Meniscal tears are common in patients after the age of 60 years and are frequently
asymptomatic in these patients.
A medially directed blow to the lateral side of the knee (i.e., a valgus stress) may
cause the unhappy triad: medial meniscus tear, medial collateral ligament
(MCL) tear, and ACL tear.
Prognosis
symptoms are typically eliminated following surgery; patients who have meniscal tears are at a
higher risk for developing OA regardless of the treatment.
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Septic arthritis Risk factors:
Any arthritic joint (osteoarthritis, trauma, RA)
prosthetic joint
Diabetes mellitus
Recent instrumentation of a joint (injection, arthroscopy, arthroplasty)
gonococcal infection
bacteremia
Infection of a joint by bacteria or fungi, resulting in a significant host immune reaction.
Damage to the joint occurs as a result of both bacterial toxins and the host inflammatory response.
Occurs through the hematogenous spread of infection (e.g., bacteremia), extension of a local infection
(e.g., cellulitis), or direct inoculation (e.g., open fracture).
S. aureus is the most common bacteria involved, and Neisseria gonorrhoeae is also common in sexually
active patients.
Patients with DM, vascular disease, and cancer may also be susceptible to Gram-negative rod infections.
N. gonorrhoeae is the most common cause of septic arthritis in young adults.
Culture results are frequently falsely negative in N. gonorrhoeae infections.
Because the inflammatory response to N. gonorrhoeae is not as severe as that for other bacteria, I + D is
not required for treatment; treat these cases with intravenous (IV) ceftriaxone and doxycycline.
Prognosis
one third of cases will be complicated by chronic infection, early joint degeneration, or the need
for surgical reconstruction.
Osteomyelitis
Bone infection due to pathogen exposure (e.g., hematogenous spread, local extension, direct
inoculation).
S. aureus and Pseudomonas are the most common causes, but Salmonella is also common in sickle cell
and asplenic patients.
Although Salmonella should be considered in patients with sickle cell disease and Pseudomonas should
be considered in intravenous drug abusers, S. aureus is still the most common cause of osteomyelitis in
these patients.
Prognosis
chronic infection is a problem in these patients, and the best chance of eradication correlates with
a quick diagnosis and institution of treatment.
Lyme disease
Systemic infection caused by Borrelia burgdorferi, a spirochete transmitted by the bite of the Ixodes tick.
Progression of the disease is divided into early localized, early disseminated (i.e., spread of disease to
the cardiac and neurologic systems), and late disseminated (i.e., establishment of chronic cardiac,
neurologic, and joint infection) stages.
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Prognosis
The long-term prognosis is variable, but Bell's palsy and carditis gradually resolve.
Arthralgias and cognitive deficits appear to remain a chronic problem in disseminated cases.
Recognizing the disease and treating it before it becomes disseminated appears to be the key to
preventing long-term sequelae.
Gout
A peripheral monoarthritis due to the deposition of sodium urate crystals in joints
The first metatarsophalangeal joint is the most commonly affected (i.e., podagra), but other joints may
be involved.
renal disease
male gender
urate underexcretion
diuretic use
cyclosporine use
cancer
hemoglobinopathies
excessive alcohol consumption
Allopurinol should not be administered in acute attacks of gout because it is only useful
as prophylaxis in chronic cases.
Prognosis
long-standing, poorly controlled disease leads to chronic tophaceous gout with the formation of
nodular tophi (i.e., large deposits of crystals in soft tissues) that cause permanent deformity.
Pseudogout (a.k.a. calcium pyrophosphate dehydrate deposition disease, CPPD)
The deposition of calcium pyrophosphate dehydrate crystals in joints leading to an inflammatory
reaction.
Frequently associated with the presence of other endocrine conditions (e.g., DM, hyperparathyroidism).
The knee and wrist are most commonly affected.
Deposition increases with age and with OA of the joints. Therefore, pseudogout is common in elderly
patients with degenerative joint disease
hemochromatosis
hyperparathyroidism
hypothyroidism
Bartter syndrome
Prognosis
prognosis is fair with few extra-articular effects of the disease, but recurrent flares are possible.
Compartment syndrome
Swelling and an increase of pressure within a fascial compartment, leading to eventual compression of
neurovascular structures and ischemia of tissues within the compartment and distal to the involved
region; delayed reperfusion may worsen tissue ischemia.
Most frequently occurs as a sequela of extremity trauma (especially crush injuries).
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Occurs most commonly in the lower leg and forearm, but the hand, foot, and thigh are also potential
sites of involvement.
Young athletes may get an exertional compartment syndrome during athletic activity with a mild
elevation of compartment pressures that resolves following activity cessation and that carries a minimal
risk of significant tissue ischemia.
A painful leg that has a pulse never rules out compartment syndrome.
The signs of compartment syndrome may be remembered by the six Ps:
Pain, Paresthesias, Paralysis, Pallor, Poikilothermia, and Pulselessness.
Prognosis
Tissue perfusion and neurologic function may be preserved with emergent fasciotomies.
Patients undergoing fasciotomies are at an increased risk of infection due to the open wounds.
Delays in treatment or missed compartment syndromes carry a devastating sequela of significant tissue
necrosis and loss of function.
Cauda equina syndrome
Compression of the cauda equina (i.e., an extension of the dural-arachnoid sac beyond the end of the
spinal cord and the terminal nerve roots contained within it) following trauma or growth of a neoplasm.
Prognosis
recovery of function is most likely with prompt treatment; delays in surgical decompression result
in permanent neurologic deficits.
Treat cauda equina syndrome with immediate surgical decompression because it can
quickly result in permanent neurologic injury.
Bone metastases
Metastasis of a nonskeletal primary tumor to bone, creating a secondary lesion.
Most common malignancy found in bone.
Breast, lung, prostate, renal cell, thyroid, and lymphoma cancers are the most common sources.
Because most bone tumors are metastases and not primary tumors, any patient with a
new bone tumor should undergo a full work-up to look for a tumor source.
Tumors that metastasize to bone may be remembered by the mnemonic “Really Large
Lesions Pulverize Troubled Bones”: Renal cell, Lung, Lymphoma, Prostate, Thyroid,
Breast.
Prognosis
prognosis is dependent on the primary tumor; in general, metastatic disease carries a poor prognosis
with dismal survivorship.
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Osteosarcoma
The most common primary malignant bone tumor.
Occurs most often in the second and third decades of life and in males.
Most commonly occurs in the distal femur, proximal tibia, or proximal humerus.
Risk factors: Paget disease of bone, p53 genetic proto-oncogene, familial retinoblastoma, radiation
exposure, bone infarcts.
Prognosis
the 5-year survival is 90% in low-grade cases and 50% for higher grade lesions.
Ewing sarcoma
A highly malignant tumor of neural crest cells occurring in the diaphysis of long bones.
Most common in children between 5 and 15 years of age.
Prognosis
a 60% 5-year survival when both radiation and chemotherapy are used in nonmetastatic disease; 20%
5-year survival in the presence of metastases.
Benign musculoskeletal tumor
Nonmalignant tumor of bone or cartilage (e.g., osteochondroma, osteoblastoma, enchondroma, fibrous
dysplasia) that may cause symptoms through mechanical effects.
Prognosis
most lesions do not cause any problems besides their mechanical effects.
Paget disease of bone
A disorder of overactive osteoblasts and osteoclasts, leading to excessive bone turnover and a
disorganized bony structure.
History: may be asymptomatic or have deep bone pain and fractures following minor trauma.
If a patient complains that “my hats no longer fit,” consider a work-up for Paget disease
or osteopetrosis.
Prognosis
adverse outcomes are related to impairments of function (e.g., deafness, kyphosis); there is an
increased risk of developing osteosarcoma with cases tending to have a poor prognosis.
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Multiple myeloma
A malignant proliferation of plasma cells, resulting in multiple osteolytic defects in bone.
Abnormal monoclonal protein (i.e., M protein) is produced from IgG and IgA heavy chains and κ and λ
light chains (i.e., Bence Jones proteins).
Patients may be notable for a prior finding of monoclonal gammopathy of undetermined significance
(MGUS).
Prognosis
complications include renal failure, recurrent infections, hypercalcemia, and spinal cord
compression; the median survival following diagnosis is 3 years.
Osteoporosis
{Decreased bone mass/quality causes increased bone fragility and fracture risk. In
osteoporosis, the bone mineral density is at least 2.5 standard deviations below
that of young, normal individuals.
Can result from decreased bone formation or increased bone resorption.
Mechanism: failure to attain optimal (peak) bone mass before age 30, or rate of
bone resorption exceeds rate of bone formation after peak bone mass is attained}
The most common risk factor is positive family history in a thin (<70kg), white female.
1. Estrogen depletion
a. Postmenopausal state—all women are estrogen deficient after menopause; however,
osteoporosis does not develop in all women
b. History of athletic amenorrhea, eating disorders, oligomenorrhea
c. Early menopause
2. Female gender—women have a lower peak bone mass and smaller vertebral end
plates
3. Calcium deficiency/vitamin D deficiency
4. Decreased peak bone mass (before age 30)
5. Heritable risk factors—family history, European or Asian ancestry, thinness/slight
build
6. Decreased physical activity (prolonged immobility)
7. Endocrine—hypogonadism in men (with low testosterone), hyperthyroidism, vitamin
D deficiency
8. Other risk factors are;
steroid use
smoking
alcohol
(Prevent with calcium and vitamin D, weight-bearing exercise, and elimination of cigarettes and alcohol).
More Risk factors: inadequate dietary calcium during young adulthood, hyperparathyroidism.
The peak bone mass in the body occurs at 20 to 25 years of age.
Osteoporosis is less likely to occur in obese people because the increased
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load placed on bones helps to prevent osteopenia.
Prognosis
the main complications are related to fractures and the related impairments in mobility.
Systemic lupus erythematosus (SLE)
A multisystem autoimmune disorder involving autoantibodies that affect multiple body systems
Antibody-mediated cellular attack occurs with the deposition of antigen-antibody complexes in the
affected tissues
Hydralazine, procainamide, isoniazid, methyldopa, quinidine, and chlorpromazine can cause a similar
constellation of symptoms that resolve when the drug is discontinued.
Risk factors: female gender, young adulthood, African, Asian, or Latino heritage.
Prognosis
Lupus anticoagulant and anticardiolipin antibodies increase the risk of miscarriage and fetal death.
Coagulopathy may develop predisposing patients to thrombus formation, CVA, and cardiac events.
The disease follows a highly variable course, with some patients remaining benign and others
progressing rapidly.
Patient death occurs from progressive impairment of the pulmonary, cardiac, cerebral, and renal
systems.
The development of renal or cerebral abnormalities carries a worse overall prognosis than cases without
these system involvements.
Polymyositis/dermatomyositis
Progressive systemic diseases with skeletal muscle inflammation.
One third of patients with polymyositis will also have dermatomyositis (i.e., skin manifestations).
Pulmonary involvement may occur as a result of respiratory muscle involvement or interstitial disease.
Risk factors: female gender, African heritage, advanced age.
Prognosis
most cases respond well to immunosuppressant medications; mortality is related to the progression of
interstitial lung disease or the development of lymphoma, lung cancer, or bladder cancer.
Fibromyalgia
A disease of chronic pain in musculotendinous tissues in the absence of inflammation.
Unknown etiology but frequently associated with depression, anxiety, and irritable bowel disease.
Abnormalities in the hormones of the hypothalamic-pituitary axis have been considered but not proven
to be related to the condition.
Prognosis
although the disease does not carry any mortality risks, it may be a chronic condition that is
difficult to treat successfully.
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Polymyalgia rheumatica (PMR)
Risk factors:
Female gender
age > 50
(Polymyalgia causes Pain but not weakness)
A rheumatic disease with multiple sites of muscle pain that is frequently associated with temporal
arteritis.
Most common in elderly women.
Once polymyalgia rheumatica has been diagnosed, the patient should automatically be worked-up for
temporal arteritis.
Weakness helps to differentiate polymyositis (present) from PMR (absent).
Patients with PMR will frequently experience significant symptomatic improvement after just 1 day of
corticosteroid administration.
Prognosis
The condition is typically self-limited over several months to a few years.
Corticosteroids speed recovery.
Recurrences will occur in 25% of patients.
Scleroderma
Chronic multisystem sclerosis with an accumulation of dense connective tissue, skin thickening, and
visceral involvement.
CREST syndrome is a variant of the disease with Calcinosis of tissues, Raynaud
phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasia. Symptoms
are predominant in the hands and feet, anticentromere antibodies are seen in the
work-up, and it has a better prognosis than classic scleroderma.
Raynaud phenomenon may prohibit accurate measuring of pulse oximetry via a
fingertip probe.
Prognosis
Complications include finger and toe necrosis, pulmonary hypertension, wound infections and impaired
healing, renal failure, and myocarditis.
Patients with mild cases have a 10-year survival of up to 70%.
Severe cases have a 10-year survival of 20%.
Mixed connective tissue disease
An autoimmune disorder combining features of SLE, scleroderma, and polymyositis.
Cases may evolve into a single syndrome and may eventually change the diagnosis.
Prognosis
cases typically evolve into one of the other rheumatologic diseases and have a better prognosis
than those conditions.
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Psoriatic arthritis
Arthritis that develops in approximately 1% of patients with psoriasis.
Affects the DIP joints and the spine most commonly.
The pattern and timing of joint pain and stiffness are similar for both rheumatoid and
psoriatic arthritis, but the pain for psoriatic arthritis is typically less severe.
Arthritic conditions that are negative for rheumatoid factor may be remembered by the
mnemonic PEAR: Psoriatic arthritis, Enteropathic arthritis (inflammatory bowel
disease), Ankylosing spondylitis, Reiter disease.
Prognosis
the functional detriments are similar to those seen with RA, and the long-term course of disability
is similar to that for RA.
Sjögren syndrome
An autoimmune disorder with a lymphocytic infiltration of exocrine glands.
May be seen in association with RA, SLE, or primary biliary cirrhosis.
Sicca syndrome is Sjögren syndrome without a secondary autoimmune association
Prognosis
the prognosis is typically good and correlates with the underlying autoimmune disorder.
Salivary gland obstruction
Ductal obstruction of the sublingual, submandibular, or parotid glands due to sialolithiasis (i.e., ductal
stone), sarcoidosis, infection, or tumor.
Prognosis
the prognosis is good with adequate treatment of the underlying cause.
Ankylosing spondylitis
A chronic inflammatory disease of the spine and pelvis that results in the eventual fusion of adjacent
vertebrae.
Some patients may have peripheral arthritis, anterior uveitis, or cardiac arrhythmias.
Risk factors: male gender, white race, young adulthood
Prognosis
complications include vertebral fractures, spinal instability, and heart block; progression of back
symptoms may lead to functional disability.
Scoliosis
resting lateral curvature of the spine with an associated rotational deformity.
The curve is at a risk of progressing during periods of rapid growth.
Larger curves are more likely to progress.
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Principally a cosmetic issue, butlarge curves may lead to chronic back pain, functional limitations, and
pulmonary compromise.
Prognosis
Pulmonary dysfunction is rare and only occurs in severe curves.
Neurologic injury is the most-feared complication of corrective surgery.
Patients with corrected curves tend to be more active and hold a better self-image.
Musculotendinous strain
Partial tear of a muscle or related tendon due to overuse or acute excessive loading.
Prognosis
the majority of partial injuries recover uneventfully; complete tears of musculotendinous units are
associated with functional disability unless a timely stable repair is performed.
Legg-Calve-Perthes disease
Avascular necrosis of the epiphysis of the femoral head related to its fragile blood supply.
Most commonly occurs in children between 3 and 8 years of age.
Prognosis
The prognosis is dependent on the ability to keep the femoral head contained within the acetabulum
and the age of the patient.
Patients over 6 years of age tend to have worse outcomes on average compared to younger patients.
Patients with an incomplete recovery of the femoral head are at a high risk for early osteoarthritis,
progressive avascular necrosis of the femoral head with structural collapse, and a need for joint
arthroplasty at an early age.
Developmental dysplasia of the hip (DDH)
Perinatal displacement of the femoral head from the acetabulum, disrupting the normal development of
the hip joint.
Occurs as a result of poor development of the acetabulum in utero.
Risk factors: female gender, first-born child, breech presentation, oligohydramnios.
Prognosis
inadequate treatment results in permanent hip dysplasia and a high likelihood of early joint
degeneration and a need for early arthroplasty.
Juvenile rheumatoid arthritis (JRA)
A nonmigratory arthropathy that occurs in children, affecting one or more joints that lasts longer than 3
Months.
Classified as pauciarticular, polyarticular, or systemic, depending on the constellation of symptoms.
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Prognosis
prognosis is dependent on the variant of the disease encountered, and outcomes may range from
full recovery to chronic arthritis.
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Slipped capital femoral epiphysis (SCFE)
Separation of the femoral head epiphysis through the growth plate, resulting in slippage of the
epiphysis.
Risk factors: adolescent, obesity, African heritage, hypothyroidism.
Prognosis
complications include avascular necrosis of the femoral head and the development of early arthritis
if surgery is not performed in a timely fashion.
Avascular necrosis of the femoral head is a common complication in children with sickle cell disease.
Growth plate arrest
Cessation of normal bony growth at part or all of the physis due to prior physeal injury or a congenital
Deformity.
The majority of physeal arrests occur as a result of a prior Salter-Harris growth plate fracture.
Prognosis
the degree of deformity is dependent on the age of the child at the time of injury and the remaining
time of bony growth prior to physeal fusion; careful operative planning must be undertaken to
choose the correct combination of procedures and their timing to minimize any permanent deformity or
leg length discrepancy.
Rickets
Impaired calcification of bone in children due to defects in vitamin D and phosphate metabolism
Nutritional rickets results from an inadequate intake of calcium, vitamin D, or phosphate.
Rickets in adults is called osteomalacia.
Prognosis
the likelihood of permanent bone deformities correlates with the time until treatment is initiated.
Osteogenesis imperfecta
A defect in the production of collagen I, resulting in abnormal bone development characterized by
significant bone fragility and impaired healing.
Osteogenesis imperfecta may be detected during a work-up for suspected child abuse.
Prognosis
depends on the severity of the disease.
Mild cases have a descent prognosis if injury is avoided.
Severe cases are highly associated with premature death or significant disability
Frozen Shoulder Risk factors:
prior trauma
diabetes mellitus
CVA
hypothyroidism
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female
age >40 years.
Avascular Necrosis of the Femoral Head Risk factors:
steroid use
sickle cell disease
alcohol abuse
osteomyelitis, or SLE, or previous fracture, dislocation, or surgical fixation.
Age (<40yrs) and risk factors are main clues to differentiate AVN from OA of the hip
Post. Knee Baker’s cyst, Popliteal cyst Risk Factors:
OA
RA
Meniscal tears, or other articular trauma
Chronic low back pain Risk factors:
smoking
obesity
older age
sedentary work
physically strenuous work
psychologically strenuous work
low educational attainment
worker’s compensation insurance
job dissatisfaction
psychological factors (depression, anxiety, etc.)
Ankylosing spondylitis Risk factors:
male gender
white race
young adulthood
Prognosis:
complications include vertebral fractures, spinal instability, and heart block; progression of back
symptoms may lead to functional disability.
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OB-GYN
[Normal menstrual cycle
The primary hormones involved in the menstrual cycle are LH, FSH, estrogen, progesterone, and human
chorionic gonadotropin (hCG).
Follicular phase
Begins at the first day of menstruation (i.e., menses).
FSH stimulates the growth of the ovarian follicle.
Granulosa cells of the ovarian follicle secrete estradiol.
Estradiol induces endometrial proliferation and further increases FSH and LH secretion due to positive
feedback of the pituitary.
Luteal phase
A sudden rise in LH (i.e., LH surge) induces ovulation.
The residual follicle (i.e., corpus luteum) secretes estradiol and progesterone to maintain the
endometrium and to induce the development of secretory ducts.
High estradiol levels inhibit FSH and LH secretion.
If the ovum is not fertilized, the corpus luteum degrades, progesterone and estradiol levels decrease,
and the endometrial lining degrades (i.e., menses).
Fertilization
If the ovum is fertilized, it will implant in the endometrium.
The endometrial tissue secretes hCG to maintain the corpus luteum.
The corpus luteum continues to secrete progesterone until a sufficient production is achieved by the
developing placenta (approximately 8 to 12 weeks)].
Consumption of fish (due to methylmercury contamination) and caffeine (due to an increased risk of
spontaneous abortion) should be limited during pregnancy.
Daily caloric intake during pregnancy should be approximately 2,500 kcal.
Exercise is encouraged during pregnancy to improve maternal feelings of
well-being, improve symptoms due to positional effects of the fetus, and
promote healthy blood sugar levels.
Work and travel may be continued throughout pregnancy as long as fatigue and
excessive stress are avoided; airline travel is permitted up to 36 weeks of gestation.
Sexual intercourse may be continued during pregnancy unless the mother is considered
a high risk for spontaneous abortion, premature labor, or placenta previa.
Maternal serum α-fetoprotein levels:
Only valid if performed during the correct gestational window (16 to 18 weeks'
gestation).
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High levels are associated with an increased risk of neural tube defects or multiple gestation
Low levels are associated with increased risk of trisomies 21 and 18.
In trisomy 18 all quadruple screen markers are low except inhibin A. In trisomy 21 maternal serum αfetoprotein and unconjugated estradiol are low, while human chorionic gonadotropin (hCG) and inhibin
A are high.
Low maternal pregnancy-associated plasma protein A (PAPP-A) levels are associated with an increased
risk of trisomies 21 and 18.
Maternal changes after delivery;
The uterus decreases in size, and the cervix becomes firm over 3 weeks; the vaginal wall also gradually
becomes more firm.
Uterine discharge (i.e., lochia) is red during the initial days after birth but becomes paler and white by
the 10th postpartum day
Total peripheral resistance increases rapidly due to the elimination of uteroplacental circulation, diuresis
of the excess fluid volume causes a significant weight loss in the first postpartum week, and cardiac
output gradually returns to normal
Postpartum depression is common for a few days after delivery, but most cases resolve without
complications
Menses return 6 to 8 weeks following delivery in nonnursing mothers, but may not occur for several
months in nursing mothers
Breast milk is considered the ideal infant nutrition because it contains important
immunoglobulin (Ig) A antibodies for the newborn, is in sufficient supply, is
cost-free, and enhances mother-infant bonding.
Early breast milk (i.e., colostrum) is rich in proteins, fat, minerals, and contains IgA;
after 1 week postpartum breast milk contains primarily proteins, fat, water, and
lactose.
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Central precocious puberty
Premature development of the sex-appropriate pubertal process in boys or girls
Due to the premature activation of the hypothalamic-pituitary-gonadal axis
The majority of cases are due to idiopathic causes
Precocious puberty may be defined by breast or genital growth and pubic hair growth before the age of
8 years in girls and 9 years in boys.
Adrenal hyperplasia is the most common cause of precocious puberty in boys.
A central nervous system (CNS) lesion or trauma is the cause of central (isosexual) precocious puberty in
approximately 10% of cases.
Always measure the TSH in patients with precocious puberty to rule out chronic hypothyroidism (TSH is
increased).
Prognosis
Children undergoing puberty inhibition develop normal sexual characteristics once inhibition is stopped.
Short stature may result if bone maturity has advanced significantly by the time treatment has been
Initiated.
Parents and physicians should be aware of the social and emotional adjustment issues in school-aged
children that begin premature sexual maturation.
McCune-Albright syndrome
A syndrome of precocious puberty, multiple sites of fibrous skeletal dysplasia, and multiple café-au-lait
lesions of the skin.
Precocious puberty occurs as a result of excessive gonadal activity in the presence of normal
hypothalamicpituitary function.
Secondary Cushing syndrome may result from an associated overproduction of cortisol.
Prognosis
complications include short stature due to premature growth plate closure, pathologic fractures,
failure to thrive, acromegaly, and sudden death; the prognosis depends on the timeliness of the
initiation of treatment.
Turner syndrome
A sex chromosome abnormality in which patients carry only one full X chromosome in their genome.
The patient's karyotype is 45XO. Most pregnancies with a 45XO karyotype end in spontaneous abortion.
It is an uncommon cause of primary amenorrhea, short stature, and infertility and is typically detected
during the work-up for one of these findings.
Causes of amenorrhea may be remembered by the mnemonic NO CATCHUP: Nutrition
(e.g., anorexia, malnutrition), Ovarian disease (e.g., failure, cysts), Cushing
syndrome, Anatomic abnormalities, Thyroid disease, Chromosome abnormalities,
Hypothalamic-pituitary dysfunction, Uterine disease, Pregnancy.
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Causes of short stature may be remembered by the mnemonic ABCDEFGHIJKL:
Abuse, Bad cancers, Chromosomal (Turner), Delayed growth (constitutional),
Endocrine (growth hormone deficiency, hypothyroidism), Familial short stature,
Gastrointestinal disease (irritable bowel syndrome, celiac), Heart (congenital disease), Immune
disorders, Joint and bone dysplasias, Kidney failure, Lung disease (asthma, cystic fibrosis).
Patients with Turner syndrome taking hormone replacement therapy are not at a
significantly increased risk of breast cancer or cardiovascular disease because of their
pre-existing hormone deficiencies.
Prognosis
The prognosis is generally good with adequate hormone replacement therapy until the age of
menopause.
Permanent short stature is typical unless the diagnosis is made at a young age
Infertility is almost universal.
Cardiac anomalies (e.g., coarctation of the aorta, aortic valve abnormalities), renal abnormalities (e.g.,
collecting duct anomalies), hearing loss, osteoporosis, hypothyroidism, and lymphedema are possible
comorbid conditions and complications.
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Genital tract abnormality
Abnormal development of the genital tract, resulting in the inability to have normal menses
Variations include vaginal septa, imperforate hymen, uterine agenesis, or intrauterine adhesions
Androgen insensitivity is a rare condition in 46XY individuals who fail to develop a male genital tract due
to nonfunctional hormone signaling pathways.
Prognosis
the prognosis is contingent on the ease of treating the condition; cases with vaginal septa or an
imperforate hymen typically regain the greatest degree of normal genital tract function.
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Polycystic ovary syndrome (PCOS)
disease of the hypothalamic-pituitary axis with androgen and LH overproduction that leads to
amenorrhea, infertility, and virilization.
Excess LH secretion by the pituitary causes an overproduction of androgens by the ovaries.
The excessive androgens are converted into estrogens that further induce androgen production and
lead to virilization.
The high estrogen levels cause an inhibition of FSH secretion and result in infertility and amenorrhea.
Some cases are associated with hyperinsulinemia, which causes further androgen overproduction.
PCOS is the most common cause of androgen excess in women.
Ovarian cysts are not the cause of disease in PCOS but are a result of androgen hypersecretion.
Prognosis
glucose intolerance with subsequent diabetes mellitus (DM) and an increased risk of endometrial
cancer from chronic hormone stimulation are the main complications
Prolactinoma
A pituitary tumor that produces excess prolactin and is related to the occurrence of amenorrhea
Effects of the tumor are a result of both the overproduction of prolactin and the mass effect of the
tumor.
Although a prolactinoma is the most common pituitary tumor, any hypothalamic or
pituitary tumors can disturb the normal hypothalamic-pituitary-gonadal signaling
pathway and cause abnormal menstrual function.
Ischemic injury of the hypothalamus or pituitary (e.g., Sheehan syndrome) will also
present as amenorrhea.
Prognosis
Microscopic tumors have an excellent prognosis, but larger tumors have more complications.
Large tumors can cause permanent vision deficits due to impingement upon the optic nerve.
Surgical resection is associated with possible hypopituitarism and a small risk of death.
Menopause
The permanent end of menstruation due to the cessation of regular ovarian function
Occurs typically around 50 years of age.
Requires 12 consecutive months without a menstrual period; the period of time leading up to this point
is the perimenopausal period.
During the evolution of menopause, the ovarian response to FSH and LH decreases, FSH and LH levels
increase, and the serum estrogen level gradually decreases.
One year of amenorrhea is required for a diagnosis of menopause.
Hormone replacement therapy, considered the standard of care for many years, has fallen into disfavor
because of its minimal clinical benefits and an increased risk for breast cancer and deep vein
thrombosis.
Topical estrogen use is contraindicated in any patient with a history of breast cancer.
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The increased risk of osteoporosis in menopausal women is due to decreased
estrogen production by the ovaries.
Prognosis
postmenopausal women are at a higher risk for CAD, osteoporosis, and cognitive deterioration.
Premature ovarian failure
Onset of menopausal changes prior to the age of 40 years
Although several etiologies exist, they typically involve either premature ovarian follicle loss or follicle
Dysfunction.
Unlike menopause, patients retain infrequent menstrual activity during the course of the process
Risk factors: tobacco use, pelvic radiation, chemotherapy, autoimmune disease, prior abdominal or
pelvic surgery
Prognosis
the prognosis for fertility is poor with few patients being able to achieve an unaided pregnancy;
because the complications are the same as for menopause but
occur at a younger age, attention to maintaining cardiac and bone health is important to avoid related
sequelae.
Vaginosis/Vaginitis Risk factors:
(Vaginosis is an Infection of vagina, and vaginitis is an inflammation, vaginosis can cause vaginitis)
Vaginosis has three main causes:
• Bacterial (Gardnerella vaginalis) “BV”; Most common, not STD, Greyish, foul smelling, fishy discharge
usually after sexual intercourse. Mostly in sexually active women. But can occur in non-sexually active as
well. Bacterial vaginosis is associated with preterm labor.
• Trichomonas; Only STD in list. Greenish-yellow discharge.
• Candida; Cottage cheese discharge.
Cigarette smoking
Recent antibiotic use decreasing normal flora (Lactobacillus normally keeps the vaginal pH below 4.5)
Multiple or new sexual partners
Obesity
Diabetes predisposes to candidiasis
IUD
HIV
Lactobacilli are a common normal bacteria whose presence on a wet mount does not
suggest infection.
Treatment of sexual partners is unnecessary for G. vaginalis or C. albicans but is
required with Trichomonas infection.
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Prognosis:
The prognosis is excellent with treatment, but failure to treat sexual partners in cases of
Trichomonas infections may lead to reinfection.
Premenstrual syndrome (PMS)/premenstrual dystrophic disorder (PMDD) Risk factor:
Family History
Syndromes seen in women with normal functioning ovaries that precede menses and are characterized
by multiple pain, mood, and autonomic symptoms that interfere with the ability to function normally.
Abnormal mood is more severe in cases of PMDD, and this differentiates it from PMS.
If a patient suspected of having PMS or PMDD has mood symptoms throughout her menstrual cycle,
initiate a psychiatric work-up for a mood disorder. Menstrual-related symptoms should only occur in the
second half of the cycle.
Prognosis:
The prognosis is guarded because no one regimen of treatment works for everyone, and a combination
of different therapies must be designed for each patient.
The use of psychiatric medications tends to be very helpful for controlling the mood symptoms of the
diagnoses.
Symptoms typically wane after menopause.
Adenomyosis Risk Factors:
endometriosis
uterine fibroids
(It presents with dysmenorrhea and menorrhagia).
Endometrial Hyperplasia/Carcinoma Risk factors:
Adenocarcinoma of the endometrial lining of the uterus
Most frequently associated with exposure to high estrogen levels
Squamous cell carcinomas of the endometrium occur but are far less common than adenocarcinoma
(Unopposed estrogen states)
Obese, postmenopausal woman
PCOS (chronic anovulation)
Tamoxifen therapy
Early menarche
Late menopause
Lynch syndrome
DM
HTN
Family history
HNPCC
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Prognosis:
Tumors typically metastasize to the peritoneum, aortic and pelvic lymph nodes, lungs, and vagina.
The 5-year survival rate is 87% for tumors limited to the endometrial lining, 76% for tumors with
extension to the cervix, 63% for tumors extending to the vagina, ovaries, or regional lymph nodes, and
37% for tumors extending to the gastrointestinal (GI) viscera or with distant metastases.
Endometrial cancer not related to excess endogenous or exogenous estrogen exposure carries a worse
prognosis than estrogen-related tumors.
{Menses with <21-day intervals, >35-day intervals, or lasting >7 days, or blood
loss >80 mL is considered abnormal}.
{Common causes of abnormal female genital tract bleeding may be remembered by the
mnemonic PANAMA CUTIE: Pregnancy, Anovulation, Neoplasm (benign or
malignant), Anatomic abnormality, Medications, Atrophy (uterine), Coagulation
disorders, Urinary tract disorders (infection, prolapse), Trauma, Infection, Endocrine disorders
(PCOS, thyroid disease)}.
Cervical neoplasia Risk Factors:
Cancer of the cervix that results from the malignant transformation of cervical dysplasia
The majority of cases are squamous cell carcinomas (80%), but adenocarcinoma (15%) and
adenosquamous carcinoma (5%) are possible.
Cervical dysplasia
Precancerous squamous cell lesions of the cervix that may progress to invasive cervical cancer in up to
22% of cases depending on the cellular grade.
HPV infection*
Tobacco use*
Early age of intercourse
Multiple sexual partners
Cigarette smoking
Immunosuppression
(Infection with HPV types 16, 18, 31 and 33 ↑ the risk of cervical cancer. An HPV vaccine has been
approved for the prevention of cervical cancer)
All women should receive annual Pap smears beginning approximately 3 years after
the onset of vaginal intercourse or no later than 21 years of age. In those who have
never engaged in intercourse, Pap smears may be deferred because of the low risk of
cervical cancer related to HPV.
Prognosis:
the 5-year survival is >90% for microscopic lesions confined to the cervical epithelium, 65%–85% for
visible lesions limited to the uterus, 50% for lesions extending beyond the uterus, and <30% for
metastatic lesions
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Ovarian neoplasm Risk factors:
(Any ovarian enlargement in prepubertal or postmenopausal women is always suspicious for an ovarian
Neoplasm).
BRCA1 gene* (BRCA1 and BRCA2 positivity and hereditary nonpolyposis colorectal cancer syndrome are
implicated in as many as 10% of all ovarian cancers)
Positive family history*
High # of lifetime ovulations Infertility
Endometriosis
Postmenopausal hormone therapy
Protective factors
Conditions that decrease # of ovulations
— oral contraceptive pills (OCPs)
— chronic anovulation
— breastfeeding
— short reproductive life
--bilateral tubal ligation and TAH-BSO
The CA125 level should be followed after starting treatment for ovarian cancer to
monitor response of the tumor to therapy.
Prognosis:
the 5-year survival for disease limited to the ovaries (with or without ascites) is 73%, 45% for
disease with extension to the uterus or fallopian tubes, 21% for disease with peritoneal or hepatic
extension and lymph node involvement, and 5% for distant metastases.
Breast cancer Risk factors:
Malignant neoplasm of breast tissue arising from either ductal or lobular elements.
Ductal neoplasms constitute 80% of cases and tend to be more aggressive.
Lobular neoplasms constitute 20% of cases, are less aggressive, and tend to be more difficult to detect.
Female gender
Age ≥ 50 years old
Familial BRCA1/BRCA2 mutation carrier
Exposure to ionizing radiation (e.g., for treatment of Hodgkin’s lymphoma).
History of breast cancer
History of breast cancer in a first-degree relative (Family history)
Hormone therapy (HRT use for > 5 years)
Obesity (BMI ≥ 30 kg per m2)
Some more (ovarian cancer, endometrial cancer, excessive estrogen exposure, early age of menarche,
late age of menopause, nulliparity, late age of first pregnancy (>35 years old), advanced age, alcohol use,
diethylstilbestrol exposure, industrial chemical or pesticide exposure).
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Patients with BRCA1 or BRCA2 gene mutations should be followed very closely to look
for breast or ovarian cancer, and they may want to consider prophylactic mastectomies
and oophorectomies if they have multiple other risk factors.
One percent of all cases of breast cancer occur in males.
{Risk factors for breast cancer may be remembered by the mnemonic A
PLACE WRONGED: Age (older patients), Pesticides, Late menopause, Alcohol, Cancer (prior breast,
ovarian, endometrial, or colon), Early menarche, Women, Radiation exposure, Obesity, Nulliparity,
Genetics (family history BRCA gene mutations), Estrogen (excess exposure), Diethylstilbestrol exposure}.
{The majority of breast cancers are detected through an abnormal screening mammogram, but 20% of
malignancies are not detected on mammogram (typically in the upper-outer quadrant of the breast)}.
{FNA of a solid breast mass carries a 20% chance of a false negative, so any negative FNA of a solid
breast mass requires a more definitive biopsy}.
{Patients with BRCA1 or BRCA2 gene mutations should be followed very closely to look for breast or
ovarian cancer, and they may want to consider prophylactic mastectomies and oophorectomies if they
have multiple other risk factors}.
Perform yearly mammography after the age of 40 years to screen for the development
of concerning breast lesions.
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Prognosis:
Tumor size, histologic grade, presence of hormone receptors, presence of BRCA gene mutations, age of
patient, and presence of lymph node or distant metastases are all factors that contribute to determining
a prognosis.
The 5-year survival rate for small tumors without positive lymph nodes is >90%, tumors 2 to 5 cm in
diameter have a 80%–90% survival, depending on the presence of few or no positive nodes, and tumors
>5 cm range from >80% with no positive nodes to ?50% with more than four positive nodes.
Bone, chest wall, brain, and liver are the most common sites of metastases.
Lymphedema is a frequent sequela of lymph node dissection and may be complicated by cosmetic
disfigurement, impaired wound healing, decreased range of motion, and increased risk of infection.
Fibroadenoma
A benign breast tumor that is caused by a proliferative process in a single duct.
Most common benign breast tumor.
More common in women <30 years old.
Suspicious lesions on mammogram are those with hyperdense regions or calcifications.
Prognosis
the prognosis is good, although recurrence is common.
Fibrocystic hyperplasia
An increased number of benign cysts and increases fibrous tissue growth that is found in women of
childbearing age.
The size of the tissue varies during the menstrual cycle.
Monthly breast self-examinations after each menstrual period are the best way to distinguish
developing lesions from monthly variations in breast tissue makeup, but have not been shown to
decrease mortality.
Prognosis
the prognosis is excellent with no expected complications.
Breast abscess Risk factors:
“A local infection of breast tissue due to S. aureus, streptococcus, or anaerobic bacteria”
Breast feeding
Smoking
Prognosis:
although patients recover well with the appropriate treatment, recurrence is common.
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Intraductal papilloma
Benign lesions of ductal tissue that may carry a malignant potential
Prognosis
the prognosis is excellent with excision, cases with a greater degree of cell atypia may be at higher
risk for ductal carcinoma.
Uterine fibroids (a.k.a. uterine leiomyoma) Risk factors:
Benign uterine masses composed of smooth muscle
Masses vary in size with the menstrual cycle and generally shrink following menopause
(Leiomyoma, or fibroids, are a common benign tumor of the uterus).
African American
Early menarche (less than 10 years old)
nulliparity
alcohol consumption
diet high in meat consumption
family history
pelvic radiation
long term tamoxifen use
Uterine fibroids do not continue to grow after menopause because of their estrogen
sensitivity and the coincident decreased postmenopausal estrogen levels.
While menopausal atrophic vaginitis and uterine fibroids are the most common
causes of vaginal bleeding in postmenopausal women (80% cases), endometrial
cancer must be ruled out for any postmenopausal woman presenting with this complaint
(i.e., perform an endometrial biopsy).
Prognosis:
although most fibroids are asymptomatic, those that do cause symptoms typically require
treatment; infertility is the most common complication.
Low-dose contraceptive pills:
do not increase the risk of cancer, heart disease, or thromboembolic events
in women with no associated risk factors (hypertension, diabetes, or smoking).
Gestational Trophoblastic Disease (GTN) Risk factors:
GTN is most common in Taiwan and the Philippines.
Other risk factors; maternal age extremes (<20 years old, > 35 years old)
folate deficiency
Prognosis:
a malignant trophoblastic neoplasm develops in 20% of cases but carries an excellent prognosis
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Candidiasis Risk factors:
Antibiotic therapy
Diabetes mellitus
Immunosuppressive therapy
Immunocompromised hosts (increased risk for both mucocutaneous and systemic
candidiasis)
Urinary Incontinence Risk factors:
{General characteristics
There are five major types of incontinence (urge, stress, overflow, functional, and
mixed). Many patients have more than one type.
Male incontinence is usually due to BPH or neurologic disease. A urology evaluation
is indicated in incontinent male patients.
Female incontinence is usually due to hormonal changes, pelvic floor dysfunction
or laxity, or uninhibited bladder contractions (detrusor contractions) due to aging}.
1. Age—diminished size of bladder, earlier detrusor contractions, postmenopausal
genitourinary atrophy
2. Recurrent urinary tract infections
3. Immobility, decreased mental status, dementia, stroke, Parkinson disease, depression
4. DM, CHF
5. Multiparity, history of prolonged labor
6. Pelvic floor dysfunction in women, BPH, and prostate cancer in men
7. Medications
a. Diuretics increase bladder filling, increasing the episodes of incontinence
b. Anticholinergics and adrenergics cause urinary retention
c. β-Blockers diminish sphincter tone
d. Calcium channel blockers and narcotics can decrease detrusor contraction
e. Alcohol, sedatives, hypnotics (depress mentation)
Pelvic inflammatory disease (PID) Risk factors:
Progressive N. gonorrhoeae or C. trachomatis infection of the genital tract, resulting in extension to the
uterus, fallopian tubes, ovaries, or abdominal cavity
Escherichia coli, Bacteroides, and streptococcus are less common causes
multiple sexual partners,
unprotected vaginal intercourse,
prior PID,
douching,
young age at first intercourse
Patients with PID may exhibit the “chandelier sign”—palpating the cervix during the
pelvic examination may be so painful that the patient almost jumps off of the
examination table (and hits the ceiling).
Barrier contraception use can reduce the risk of PID.
Suspect a tubo-ovarian abscess in a patient with PID who also has signs of
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sepsis or peritonitis. Inpatient treatment is required with IV hydration, IV
antibiotics, and surgical drainage.
Prognosis:
complications include chronic pelvic pain, infertility due to uterine and fallopian tube scarring, and
a significantly increased risk of future ectopic pregnancy.
Cervicitis
Infection of the columnar cervical epithelium most commonly by N. gonorrhoeae or C. trachomatis.
Infection of the urinary tract, rectum, or oropharynx may also occur via sexual contact.
Chlamydia infection is the most common STD because it may be asymptomatic (especially in men) and
frequently goes unrecognized.
C. trachomatis infection is asymptomatic in >50% of cases, and the symptoms are typically milder than
those with N. gonorrhoeae infection.
Clinical cervicitis with negative Gram stain and cultures is highly suggestive of Chlamydia infection.
Prognosis
untreated infection can progress to PID or septic arthritis.
Endometriosis Risk factors:
The presence of ectopic endometrial tissue outside the uterine cavity.
Retrograde menstruation, vascular spread of endometrial tissue from the uterus to the pelvic cavity, or
the iatrogenic spread of endometrial tissue (e.g., cesarian section) are the most plausible explanations
for the evolution of the condition.
Tissue may be located on the ovaries, broad ligament, or abdominal wall and viscera
The ectopic tissue behaves according to the menstrual cycle, which causes the characteristic symptoms.
family history
infertility
nulliparity
low body mass index (BMI)
{Endometriosis is the most common cause of female infertility and may be
responsible for up to 50% of cases}.
{Primary dysmenorrhea (i.e., without pelvic pathology) symptoms occur in the
beginning of menstruation and resolve over several days; secondary dysmenorrhea
(i.e., associated with pelvic pathology) symptoms begin midcycle before the onset of
menstruation and increase in severity until the conclusion of menstruation}.
Prognosis:
approximately 50% of patients will continue to have pain despite treatment, and 33% of patients
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will have full resolution regardless of treatment; infertility is the most common and frustrating
complication.
Syphilis
A sexually transmitted disease caused by the spirochete Treponema pallidum
Vertical transmission from a mother to child is also possible.
The disease is classified into stages based on its extent of involvement and the degree of
symptomatology.
The primary chancre of syphilis appears 1 to 13 weeks after transmission of the disease and heals within
9 weeks of appearing.
Thirty-three percent of patients with untreated syphilis will progress to the tertiary stage within 30 years
following infection.
RPR and VDRL will eventually become negative following syphilis treatment, but FTA-ABS will remain
positive for life.
Treponema pallidum cannot be cultured.
Prognosis
The majority of complication occur with long-term disease having entered the tertiary stage.
Gummas develop in the skin, bones, and liver, causing extensive erosive lesions.
Aortic regurgitation, aortitis, and aortic aneurysm formation develop from cardiac involvement.
Neurosyphilis is characterized by tabes dorsalis, the development of mood instability, and cognitive
Decline.
Initiation of treatment will frequently cause a brief exacerbation of symptoms and signs (i.e., JarischHerxheimer reaction) if initiated in the secondary or later stage.
The prognosis is excellent with treatment up to the tertiary stage.
Although the vast majority of patients with tertiary syphilis will be cured of the disease and will have
symptomatic improvement following treatment, visceral gummatous destruction and neurosyphilis are
permanent sequelae.
Disease progression is faster in patients with comorbid HIV, and longer treatment is required.
Human papillomavirus (HPV)
A collection of several types (>100) of papillomavirus that may be causative for genital warts (types 6
and 11) and cervical cancer (types 16 and 18).
The HPV vaccine acts as a prophylaxis for 90% of genital warts and 70% of cervical
cancers.
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Prognosis
scarring may result from the removal of large warts; cervical cancer is the most concerning
sequelae and requires close observation in patients infected with the associated virus types.
Chancroid
A highly contagious disease of genital ulceration caused by the Gram-negative bacillus Haemophilus
ducreyi.
Most cases occur in tropical or subtropical regions or in immunocompromised patients.
History: painful ulcer that appears within 2 weeks of exposure.
The characterization of genital ulcers may be remembered by the mnemonic “Some
Girls Love Licorice, but Fellows Hate Candy”: Syphilis, Granuloma inguinale, and
Lymphogranuloma venereum = painLess. PainFul = Herpes simplex and Chancroid.
Prognosis
buboes that rupture may cause severe scarring and sinus tract formation; the prognosis is excellent
for recovery following treatment.
Lymphogranuloma venereum
A sexually transmitted disease caused by the L-1, L-2, and L-3 serotypes of C. trachomatis.
The causative serotypes are different from the types of C. trachomatis responsible for cervicitis.
Prognosis
buboes may rupture and cause scarring, sinus tract formation, abscess formation, and lower
extremity elephantiasis (i.e., severe lymphedema).
Granuloma inguinale
Sexually transmitted disease with genital ulcerations caused by Klebsiella granulomatis infection.
Prognosis
complications include recurrence of infection, scarring from the ulcers, elephantiasis, and an
increased risk of basal cell and squamous cell carcinoma.
Benign cystic mass of an ovary
There are several types of benign ovarian cystic and solid masses exist.
US findings of a cystic mass with smooth edges and few septa are more consistent
with benign ovarian tumors. Findings of irregularity, nodularity, multiple septa, and pelvic extension are
more suggestive of malignancy.
Prognosis
The prognosis for benign cysts is excellent.
The prognosis for noncystic benign ovarian masses is also good with low risks of malignant
transformation.
Potential complications include ovarian torsion or cystic rupture.
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Gestational diabetes mellitus Risk factors:
New onset glucose intolerance that begins during pregnancy.
family history of DM
older than 25 years
obesity
prior polyhydramnios
recurrent abortions
prior stillbirth
prior macrosomia
HTN
African or Pacific Islander heritage
corticosteroid use
polycystic ovary syndrome (PCOS)
Gestational DM occurs in 1%–6% of all pregnancies.
Continue glucose assessments after delivery because maternal glucose needs
will change suddenly in patients with gestational DM and because it is
uncertain if the mother will remain diabetic following delivery.
Gestational DM occurs most frequently in the second or third trimester. If the mother
presents with signs of DM earlier in pregnancy, suspect nongestational (type 1 or 2) DM.
Insulin is used preferentially over the oral hypoglycemics during pregnancy because of
the better safety profile.
Prognosis:
Several complications of pregnancy are associated with gestational diabetes including polyhydramnios,
pre-eclampsia, renal insufficiency, diabetic ketoacidosis (DKA), hyperosmolar hyperglycemic nonketotic
coma (HHNC), retinopathy, fetal hypoglycemia, macrosomia, IUGR, neural tube defects, fetal cardiac
defects, and intrauterine fetal demise.
Macrosomia is associated with increased rates of birth trauma and cesarian delivery.
Mothers who develop gestational DM are at an increased risk of developing nongestational DM later in
life; 70% of women requiring insulin during pregnancy will develop DM during their lifetimes.
Children from a pregnancy complicated by gestational DM are at a higher risk of being obese during
childhood or adulthood.
Preterm Labor Risk Factors:
Premature rupture of membranes
Multiple gestation
Previous history of preterm labor
Placental abruption
Maternal factors;
• Uterine anatomical abnormalities
• Infections (chorioamnionitis)
• Preeclampsia
147
•
Intraabdominal surgery
Chorioamnionitis or “Triple I”
Intrauterine infection and/or inflammation is referred to as “triple I.” Etiology is typically
polymicrobial, involving vaginal flora such as Ureaplasma, Mycoplasma, Gardnerella vaginalis, or
group B Streptococcus.
Risk Factors:
Prolonged labor
Prolonged rupture of membranes
Multiple digital vaginal exams
Cervical insufficiency
Invasive testing
Internal fetal monitoring
STDs
Macrosomia Risk Factors:
(Fetuses with an estimated birth weight over 4500 g are considered macrosomic babies).
Maternal diabetes or obesity (GDM, overt diabetes)
Advanced maternal age
Post term pregnancy (prolonged gestation)
multiparity
male fetus
Preeclampsia and Eclampsia Risk factors:
Pregnancy-induced hypertension (HTN), proteinuria, and edema that develops after 20 weeks of
gestation➔Pre Eclampsia
The progression of pre-eclampsia, leading to maternal seizures that may be severe and fatal for both the
mother and fetus if not treated promptly➔Eclampsia.
Occurs in 5% of pregnancies and is due to an unknown cause.
HELLP syndrome is a subtype of pre-eclampsia characterized by hemolysis, elevated liver enzymes, and
low platelets (note the mnemonic!).
Primigravida’s are most at risk. Other risk factors are;
multiple gestation
hydatidiform mole
diabetes mellitus
age extremes
chronic hypertension
chronic renal disease
Obesity
(Seizure disorder is not a risk factor for eclampsia).
{Findings suggestive of pre-eclampsia may be remembered by the mnemonic HELP
HER: HTN, Edema (hands and face), Liver enzymes increased, Proteinuria, Headache,
Eye disturbances, Renal impairment (decreased glomerular filtration rate)}.
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The only definitive cure for pre-eclampsia is delivery.
{Do not discontinue antihypertensives postpartum in patients with pre-eclampsia until the patient
remains normotensive because seizures may occur up to a month following delivery}.
Patients with preexisting epilepsy who become pregnant should be treated with a single
anticonvulsant, valproic acid and carbamazepine should be avoided because of the
increased teratogenic risks, and supplemental vitamin K and folate should be
administered to reduce the risk of teratogeny.
Prognosis for preeclampsia:
Potential complications include eclampsia with seizures, cerebral vascular accident, IUGR, pulmonary
edema, maternal organ failure, oligohydramnios, and preterm delivery.
HELLP syndrome is associated with abruptio placentae, renal insufficiency, encephalopathy, and
disseminated intravascular coagulation (DIC); it is associated with a 1% maternal mortality.
The recurrence rate is 5% in patients with mild symptoms and up to 70% in patients with severe
symptoms.
Prognosis for Eclampsia:
The maternal and fetal mortality rates are 1% and 12%, respectively.
There is up to a 70% risk of pre-eclampsia and 2% risk of eclampsia in future pregnancies.
More than half of mothers who have eclampsia will have temporary neurologic deficits following
seizures.
HELLP SYNDROME Risk factors:
(HELLP syndrome occurs in preeclamptic patients with the addition of hemolysis, elevated liver enzymes,
and low platelets. It usually occurs in the third trimester; however, it may occur up to 2 days after
delivery).
Previous HELLP syndrome
Sisters and offspring of people with HELLP syndrome
Hyperemesis Gravidarum Risk factors:
(Defined as refractory vomiting that leads to weight loss, poor weight gain, dehydration, ketosis from
starvation, and metabolic alkalosis. Typically persists beyond 14–16 weeks’ gestation).
The cause is poorly understood but likely involves a combination of psychological, hormonal, and
gastrointestinal factors.
nulliparity
multiple pregnancies
trophoblastic disease
Although the majority of pregnant women have nausea and vomiting in the first
trimester, it does not lead to the volume depletion and electrolyte abnormalities seen
in hyperemesis gravidarum.
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Prognosis:
complications include seizures, encephalopathy, renal failure, pancreatitis, and hepatic dysfunction;
symptoms rarely last beyond the first trimester
Chorioamnionitis Risk factors:
Prolonged rupture of membranes (ROM)*
multiple vaginal exams while being ruptured in labor
Endometritis Risk factors:
C-section*
prolonged ROM
multiple vaginal exams while being ruptured in labor
Peripartum Cardiomyopathy Risk factors:
multiparity
age ≥ 30
multiple gestations (i.e., twins or triplets, etc.)
preeclampsia
(The 5-year mortality rate is 50 percent).
Spontaneous Abortion/Fetal Demise Risk factors:
Different terms are used to refer to the death of an embryo or fetus based on the gestational age or
weight at the time of in-utero death.
• Spontaneous abortion is the expulsion of an embryo/fetus < 500 g or < 20 weeks’ gestation.
Most commonly it initially presents with uterine pain and vaginal bleeding.
• Fetal demise is the in-utero death of a fetus after 20 weeks’ gestation. The most common
symptom is a loss of fetal movements.
Chromosomal abnormalities of the embryo or fetus are the most common cause of spontaneous
abortion.
Risk factors are advanced maternal age, previous spontaneous abortion, and maternal smoking, alcohol,
cocaine, caffeine, low folate, NSAIDS.
Fetal demise is most commonly idiopathic.
Risk factors include antiphospholipid syndrome, overt maternal diabetes, maternal trauma, severe
maternal isoimmunization, and fetal infection.
{Causes of recurrent spontaneous abortion may be remembered by the mnemonic CUPID'S SIGHT:
Coagulopathy, Uterine issues (fibroids, cervical incompetence), PCOS, Immunologic causes, DM,
Substance use (tobacco, alcohol), Stress, Infection, Genetic issues (chromosome abnormalities),
Hyperprolactinemia, Thyroid disorder}.
{Spontaneous abortions occur in up to 25% of pregnancies}.
{The most common causes of vaginal bleeding in early pregnancy are ectopic pregnancy, threatened or
inevitable spontaneous abortion, physiologic bleeding (related to implantation), and uterine-cervical
pathology}.
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Prognosis:
fetal demise is inevitable in all but threatened abortions; unless other risk factors exist, patients
should not have any further increased risk for spontaneous abortion in future pregnancies.
Hydatidiform mole
A benign neoplasm of trophoblastic cells (i.e., placental cells) that carries a risk of malignant
transformation.
Types:
Complete: 46, XX genotype; completely derived from the father (i.e., an empty egg is penetrated by
sperm).
Incomplete: 69,XXY genotype; fertilization of an egg by two sperm simultaneously.
Risk factors: low socioeconomic status, age >40 years during pregnancy, prior molar pregnancy, Asian
heritage, tobacco use.
High β-hCG is seen in both hydatidiform mole and multiple gestation; differentiate
the conditions with an US.
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Highly suspect a molar pregnancy if pre-eclampsia occurs in the first half of
pregnancy, and perform an US to confirm the diagnosis.
Prognosis
a malignant trophoblastic neoplasm develops in 20% of cases but carries an excellent prognosis
Choriocarcinoma
A malignant trophoblastic neoplasm that arises from hydatidiform moles (in 50% of cases) or following a
spontaneous abortion, ectopic pregnancy, or normal pregnancy.
Prognosis
potential sites of metastases include the lungs, brain, liver, kidneys, and gastrointestinal tract; the
prognosis is good in the absence of brain or liver metastases.
Ectopic Pregnancy risk factors:
Implantation of a fertilized ovum outside of the uterus.
The ampulla of the fallopian tube is the most common location of implantation (95% of cases), but the
ovary, cervix, and the abdominal cavity are also potential sites.
Pelvic inflammatory disease (PID) (most common)
Intrauterine devices (IUD)
Previous ectopic pregnancies (strongest risk factor)
history of surgery (tubal ligation, tubal surgery)
congenital risks (diethylstilbestrol [DES] exposure)
Prognosis:
complications include inevitable fetal death, severe maternal hemorrhage, increased risk of future
ectopic pregnancies, infertility, Rh (rhesus factor) sensitization, and maternal death; the risk of future
ectopic pregnancy is up to 25%.
Shoulder Dystocia Risk factors:
Maternal diabetes and obesity causes fetal macrosomia
Post-term pregnancy allows the baby more time to grow
History of prior shoulder dystocia
Uterine Inversion Risk factors:
Macrosomia
Rapid labor and delivery
Short umbilical cord
Uterine abnormalities
Placenta accrete
Postpartum Blues Risk Factors:
Family history of depression
Depression symptoms during pregnancy
History of PMS/PMDD
Stress surrounding child care
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Postpartum Depression Risk Factors:
Depression in the past
History of abuse
Young age
Unplanned pregnancy
Stressful life events, such as lack of social or financial support
No partner or intimate partner violence
Gestational diabetes
Not breastfeeding
Miscarriage/stillbirth
Atony Risk Factors:
Normally, postpartum, the uterine contractions compress the blood vessels to stop blood loss. In
uterine atony, this does not occur. Uterine atony accounts for 80% of postpartum hemorrhage.
Anesthesia
Uterine overdistention (such as in twins and polyhydramnios)
Prolonged labor
Laceration
Retained placenta (can occur with placenta accreta)
Coagulopathy
(Sheehan syndrome after postpartum hemorrhage presents as inability to breastfeed).
Abnormal postpartum bleeding is defined as blood loss >500 mL/day following a
vaginal delivery or >1,000mL/day following cesarian delivery.
Prognosis:
the prognosis is very good with oxytocin therapy; complications result from profound blood loss and
are primarily concerned with the effects of significant hypotension (e.g., tissue ischemic, anoxic brain
injury, cardiac ischemia, renal insufficiency).
Retained placental tissue Risk factors:
Failure of part of the placenta to separate from the uterine wall during delivery, resulting in persistent
postpartum bleeding.
preterm delivery
accessory placental lobes
placenta accreta (i.e., excessive invasion of the placenta into the uterine wall during implantation)
{Retained placental tissue causes the most substantial volume of postpartum Bleeding}.
Prognosis:
the potential complications are those associated with hypovolemia and hypotensive ischemia.
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Birth canal trauma
Injury to the birth canal during the delivery, resulting in significant bleeding from lacerations
A similar presentation results from an episiotomy (i.e., an incision made in the vaginal opening to ease
passage of the neonate) that is poorly repaired.
Prognosis
scar formation in the birth canal may lead to postdelivery dyspareunia and difficulties in future
births; other potential complications are those associated with hypovolemia and hypotensive ischemia.
Abruptio Placenta Risk factors:
Premature separation of the placenta from the uterine wall, leading to maternal hemorrhage.
Abdominal trauma (auto accidents)
Maternal cocaine use*
Polyhydramnios
Chronic hypertension*
Preeclampsia/eclampsia
Maternal smoking
Delivery should be delayed until at least 34 weeks of gestation if the mother and fetus remain stable
during abruptio placentae.
Prognosis:
Potential complications include DIC, severe maternal hemorrhage, maternal or fetal death, and the need
for a hysterectomy to control uterine bleeding.
The fetal mortality rate is 12%.
The risk of abruptio placentae in future pregnancies is 12%.
{Causes of abdominal pain during pregnancy may be remembered by the mnemonic
CRUEL CRAMP: Constipation, Round ligament stretching, UTI, Ectopic pregnancy, Labor (preterm or
term), Cholestasis, Rupture (ectopic or uterine), Abruptio placentae, Miscarriage, Pre-eclampsia}.
{Placenta previa and abruptio placentae are the most common causes of vaginal bleeding after 20 weeks
gestation. Bleeding in placenta previa is painless, and bleeding in abruptio placentae is painful}.
Placenta Previa Risk factors:
Implantation of the placenta near the cervical os.
Frequently associated with uterine bleeding during pregnancy.
Previous placenta previa
Previous C-section*
Previous multiple-gestation pregnancy
Previous abortion
Advanced maternal age >30yrs
Maternal smoking or cocaine use
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Prognosis:
Potential complications include severe maternal hemorrhage, IUGR, malpresentation, PROM, and vasa
previa (i.e., fetal vessels overlying the cervical os).
Preterm delivery occurs in 50% of patients.
Fetal mortality occurs in 3% of cases; maternal mortality occurs in <0.5% of cases.
{The 30th week of gestation is the most common time for placenta previa to be Diagnosed}.
Do not perform a manual vaginal examination in a pregnant patient with vaginal bleeding until placenta
previa can be ruled out with an US; manual examination increases the risk of inducing greater
hemorrhage.
Placenta Accreta Risk factors:
Placenta previa after C-section—the most important risk factor
C-section
Uterine surgeries
Advanced maternal age
History of fertility treatments (in vitro)
Uterine Rupture Risk factors:
Increased risk with previous cesarean deliveries (both types)
• Classical (longitudinal along uterus): higher risk of uterine rupture
• Low transverse (more recent use)
Trauma (most commonly motor vehicle accidents)
Uterine myomectomy
Uterine overdistention
Polyhydramnios
Multiple gestations
Placenta percreta
Cervical insufficiency Risk Factors:
Second-trimester abortion
Cervical laceration during delivery
Deep cervical conization
Diethylstilbestrol (DES) exposure
Premature Rupture of Membrane (PROM) Risk factor:
Spontaneous rupture of the amniotic sac and the spillage of amniotic fluid prior to the onset of labor
Small ruptures can lead to a chronic slow leak of amniotic fluid and subsequent oligohydramnios
Ascending infection from the lower genital tract is the most common risk factor.
cervical incompetence
maternal malnutrition
PROM in prior pregnancies
Prognosis:
the prognosis is good when PROM occurs after 34 weeks of gestation; the rates of fetal demise,
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neurologic abnormalities, and respiratory distress of the newborn increase when PROM occurs earlier in
the pregnancy
Preterm Premature Rupture of Membranes (PPROM) Risk factors:
Defined as spontaneous ROM at < 37 weeks, prior to the onset of labor. Distinguished from premature
rupture of membranes (PROM), which refers to loss of fluid at term prior to the onset of contractions.
Risk factors include;
Low socioeconomic status
young maternal age
smoking
STDs
Preterm labor Risk factors:
“Onset of labor before 37 weeks of gestation”
multiple gestation
infection of genital tract
PROM
placenta previa
abruptio placentae
previous preterm labor
polyhydramnios
cervical incompetence
poor nutrition
stressful environment
tobacco use
substance abuse
lower socioeconomic status
{A cervical length >35 mm is associated with a very low risk of preterm birth; a cervical
length <25 mm has an increased risk of preterm birth}.
Prognosis:
the rates of fetal demise, fetal sepsis, respiratory distress of the newborn, and necrotizing
enterocolitis increases with the degree of prematurity before 34 weeks.
Fetal renal anomaly
Abnormal development of the fetal kidneys, resulting in abnormal urologic function
The majority of all abnormalities are obstructive in nature
Prognosis
potential complication include those of oligohydramnios, poor lung maturation, congenital heart
disease, and fetal demise; the long-term prognosis of children with a congenital renal anomaly depends
on the ability to reconstruct a normal urologic drainage tract following birth.
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Breech presentation Risk factors:
Previous breech
Uterine abnormalities
Placental abnormalities
Short umbilical cord
Multiparity
Multiple gestation
Although 25% of pregnancies will have the fetus in a breech presentation prior to 28
weeks of gestation, the majority of cases will self-correct before they are full term.
External cephalic version is successful in only 40% of attempts.
Prognosis:
complications include cord prolapse, head entrapment within the birth canal, failure of labor to
progress, fetal hypoxia, abruptio placentae, and both fetal and maternal birth trauma; because of the
success and relative low risk of cesarian delivery, this option is frequently selected for any concerning
malpresentation.
{Although 25% of pregnancies will have the fetus in a breech presentation prior to 28
weeks of gestation, the majority of cases will self-correct before they are full term.
{External cephalic version is successful in only 40%-50% of attempts}.
Multiple gestations Risk factors:
family history
older maternal age
infertility therapy (e.g., clomiphene, transfer of multiple ova)
{If fetal heart sounds are found in an unusual location of the abdomen, continue to look for additional
sets of heart sounds to help differentiate malpresentation of a single gestation from multiple
gestations}.
The average delivery age for twins is 36 weeks of gestation.
Prognosis:
there is an increased incidence of pre-eclampsia, preterm labor, fetal malpresentation, placenta
previa, abruptio placentae, PROM, IUGR, birth trauma, cerebral palsy, and respiratory distress syndrome
with multiple gestations; the rate of fetal demise is four times higher than single gestations.
Postpartum Fever Risk factors:
Atelectasis; General anesthesia with incisional Pain, Cigarette smoking
UTI; Multiple catheterizations and vaginal exams
Endometritis; C-section, prolonged rupture of membranes, multiple vaginal exams
Wound infection; Emergency C-section after PROM
Septic thrombophlebitis; Prolonged labor
Infectious mastitis; Nipple trauma and cracking
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Intrauterine growth restriction
Fetal growth that lags behind the gestational age
Symmetric
Makes up 20% of IUGR cases.
There is a generalized decrease in fetal size as evidenced by a lower-than-normal head circumference,
abdominal circumference, and femoral length.
Occurs in early pregnancy and is most commonly due to congenital infection, chromosomal
abnormalities, or maternal substance use.
Asymmetric
Makes up 80% of IUGR cases.
There is a disproportionate decrease in fetal size demonstrated by a normal head circumference and
femoral length and low abdominal circumference.
Occurs late in the pregnancy and is due to multiple gestations, maternal comorbid conditions
(particularly autoimmune disorders), or placental insufficiency (e.g., vascular anomalies).
Prognosis
the incidence of respiratory distress of the newborn, hemorrhage, necrotizing enterocolitis, and
prolonged NICU stays are all increased in IUGR neonates when compared to normal-growth births;
neonatal mortality increases significantly in deliveries occurring before 32 weeks of gestation.
Congenital infections
Maternal infections during pregnancy that can have significant deleterious effects on fetal development
or viability (Table 12-12).
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159
Prognosis
generally these infections carry significant long-term sequelae that may result in life-long
disabilities and a decreased lifespan.
Congenital infections are frequently referred to as the TORCHS infections:
Toxoplasmosis, Other (varicella-zoster, group B streptococcus, Chlamydia, Neisseria),
Rubella/Rubeola, Cytomegalovirus, Herpes simplex/Hepatitis B/HIV, Syphilis.
Teratogens will either kill the fetus or will have no effect within the initial 2 weeks
of gestation. They may cause abnormal organ formation between 2 to 12 weeks.
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Pediatrics
Intellectual Disability Risk factors:
Inborn errors of metabolism
intrauterine infections
exposure to toxins
heavy metals
poor prenatal care
physical trauma
social deprivation
(The most common cause of intellectual disability is fetal alcohol syndrome. The most common
genetic causes are Down syndrome and fragile X syndrome).
Necrotizing Enterocolitis (NEC) Risk factor:
Premature delivery
Congenital heart disease
low birth weight
Prognosis:
mortality is approximately 25%; 50% of surviving patients will develop short-gut syndrome or bowel
stricture.
Hirschsprung disease Prognosis:
most children are able to achieve fecal continence after surgical reconstruction; complications
include enterocolitis, bowel obstruction, and postoperative incontinence.
Intussusception Risk factors:
Meckel diverticulum
Henoch-Schonlein purpura
adenovirus infection
cystic fibrosis
young age (i.e., more common in children)
Prognosis:
prognosis is excellent; bowel ischemia may occur in cases with delayed presentation.
Meckel diverticulum Prognosis:
complications include intussusception, diverticulitis, or abscess formation; prognosis is excellent
in asymptomatic cases, but cases that develop complications are associated with a low rate of mortality.
Neonatal Sepsis Risk factors:
(A fever in the first month of life is an indication for a full sepsis workup, admission, and IV antibiotics).
maternal group B strep (GBS) infection
rupture of membranes > 18 hours
maternal fever
chorioamnionitis
premature labor
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(The most common pathogens are E coli, GBS, and other gram-negative rods. Listeria monocytogenes is
rare but is a frequent topic on pediatric exams)
Bacterial meningitis Risk factors:
ear infection
sinusitis
immunocompromise
neurosurgery
maternal group β streptococcus
infection during birth
PDA Risk factors:
Prematurity*
high altitude
maternal first-trimester rubella* infection
Coarctation Of the Aorta Risk factors:
Turner’s syndrome*
male gender
(Turner syndrome also associated with bicuspid aortic valve)
Wilms Tumor Risk factors:
(An embryonal tumor of renal origin. Wilms’ tumor is the most common renal tumor in children and is
usually seen in those 1–4 years of age)
⊕ family history
Neurofibromatosis
aniridia (WAGR syndrome)
Beckwith-Wiedemann syndrome
congenital GU anomalies (e.g., Denys-Drash syndrome)
Prognosis:
survivorship is 90% in cases without regional or metastatic spread.
Neuroblastoma Risk factors:
(A tumor of neural crest cell origin that most commonly affects children < 5 years of age; the most
common solid tumor during infancy)
Risk factors;
neurofibromatosis
tuberous sclerosis
pheochromocytoma
Hirschsprung’s disease
Beckwith-Wiedemann syndrome
Turner syndrome
low maternal folate consumption
Prognosis:
poor prognosis if presenting after one year of age with metastases to the bone and brain.
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Anencephaly Risk factors:
“severe failure in closure of the upper neural tube in which the absence of the forebrain, meninges,
and portions of skull occur; typically incompatible with life beyond a few days”
poor prenatal folate intake
anticonvulsant uses during pregnancy
gestational DM
Cerebral palsy Risk factors:
prematurity
intrauterine growth restriction
birth trauma
neonatal seizures
cerebral hemorrhage
perinatal asphyxia
multiple gestations
intrauterine infection
Prognosis:
improvements in rehabilitation and coordinated care have increased the life expectancy of these
patients well into adulthood, but lifelong care is frequently required on some level to optimize function
Developmental dysplasia of the hip (DDH) Risk factors:
female gender
first-born child
breech presentation
oligohydramnios
Prognosis:
inadequate treatment results in permanent hip dysplasia and a high likelihood of early joint
degeneration and a need for early arthroplasty.
Slipped capital femoral epiphysis (SCFE) Risk factors:
adolescent
obesity
African heritage
hypothyroidism
Prognosis:
complications include avascular necrosis of the femoral head and the development of early arthritis
if surgery is not performed in a timely fashion.
Croup:
“Acute inflammation of the larynx due to parainfluenzae virus type 1 (most common), parainfluenzae
virus 2 or 3, respiratory syncytial virus (RSV), influenza virus, rubeola, adenovirus, or Mycoplasma
pneumoniae.
Most common between 3 months to 5 years of age.”
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Prognosis:
Children with moderate to severe respiratory symptoms are at risk for developing hypoxemia and
respiratory distress.
Patients may be predisposed to developing secondary bacterial infection.
Recurrent cases are possible but cease following 5 years of age.
Epiglottitis
“Rapidly progressive infection of the epiglottis and surrounding pharyngeal tissue that may cause airway
Obstruction.
Most commonly due to Haemophilus influenzae type B infection but also caused by other types of H.
influenzae or streptococcus.
Most common from 2 to 7 years of age.
Prognosis:
most children recover without long-term airway complications; most mortalities are a result of
delayed presentation or cardiopulmonary arrest during inappropriate pharyngeal examination.
Bronchiolitis prognosis:
“Viral infection of the bronchioles due to RSV (most common) or parainfluenzae virus type 3
Most common in children younger than 2 years old in spring and winter”
typically, self-limited; recurrent cases may predispose a child to the development of asthma.
Aspirated foreign body:
“The right main bronchus is the most common site of aspiration given its greater
vertical orientation off of the trachea compared to the left side.”
symptoms resolve, and complications are avoided with prompt removal; foreign bodies left in place
for extended periods of time (e.g., weeks) may lead to local infection, atelectasis, postobstructive
pneumonia, or bronchiectasis.
Respiratory distress of the newborn prognosis:
Neonates given prompt treatment in the NICU setting tend to have good outcomes.
Neonates are at increased risk to develop pneumonia until their lungs mature
Children with a history of respiratory distress of the newborn are more likely to develop asthma than
other children.
Pyloric stenosis Prognosis:
prognosis is excellent with surgical correction; possible complications include dehydration,
malnutrition, and iatrogenic bowel perforation during surgery.
Esophageal atresia Prognosis:
complications include anastomotic leaks, strictures, GERD, and esophageal dysmotility; the presence of
low birth weight, pulmonary compromise, and secondary cardiac complications correlate with increased
mortality.
Duodenal atresia Prognosis:
mortality is <5% acutely, and prognosis is generally very good.
164
Physiologic jaundice prognosis:
prognosis is excellent, and kernicterus (i.e., bilirubin encephalopathy) is very rare with the
appropriate treatment.
Breast milk jaundice Prognosis:
prognosis is excellent, and kernicterus is extremely rare.
Biliary atresia prognosis:
Complications include portal hypertension, cirrhosis, hepatocellular carcinoma, and kernicterus.
Five-year survival is up to 60% following surgical reconstruction.
Liver transplantation is required once hepatic failure progresses.
Crigler-Najjar syndrome Prognosis:
kernicterus is frequently present at the time of birth, and death usually occurs within the first few
years after birth
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Psychiatry
The components of the mental status examination may be remembered by the
mnemonic ABC STAMP LICKER: Appearance, Behavior, Cooperation, Speech,
Thought processes and content, Affect, Mood, Perceptions, Level of consciousness,
Insight and judgment, Cognition, Knowledge base, Endings, Reliability.
Ability to function generally refers to a patient's ability to live independently,
perform normal activities of daily life, and function as a contributing member of
society.
Bipolar disorder
Prognosis
Full control of episodes is difficult to achieve, and 50% of patients will have additional episodes of mania
or major depression.
In patients who are successfully treated, the minority will never have a recurrent episode, and many will
have recurrent, but less frequent, episodes.
Substance abuse, prolonged depression, psychotic features, frequent manic episodes, and suicidal or
homicidal ideation are all associated with a worse prognosis.
Suicide or homicide is considered the worst potential complication.
On average, most bipolar patients experience four cycles of episodes in a 10-year
period, but some may experience rapid cycles.
The characteristics of manic episodes may be remembered with the mnemonic
DIGFAST: Distractibility, Insomnia, Grandiosity (feelings of), Flight of ideas,
Activity (increase in goal-oriented), Speech (pressured), Taking risks.
The characteristics of major depressive disorder may be remembered with the
mnemonic SIG E CAPS: Sleep disturbances (insomnia), Interest loss, Guilt, Energy
reduction (fatigue), Concentration impairment, Appetite changes, Psychomotor
disturbances, Suicidal ideation.
Always assess the depressed patient for suicidal risk.
A prior history of mania must be ruled out by a thorough history in a patient
suspected of having major depressive disorder before antidepressants are
prescribed. Antidepressants given to a patient with bipolar disorder who
is not taking mood stabilizers can induce a manic episode.
Major depressive disorder
Significant depression that impairs the patient's ability to function, lasts at least 2 weeks, and is not
attributable to substance use, medical comorbidities, or bereavement.
Prognosis
up to 80% of patients will have an improvement in their symptoms with treatment; suicide is
considered the most concerning complication
166
167
Dysthymia
Feelings of a depressed mood that occur on more days than not for more than 2 years
The patient must have no prior history of any major depressive episodes.
A diagnosis requires a depressed mood and at least two historical findings for a majority of days for at
least 2 years.
Seventy-six percent of children with dysthymic disorder develop major depressive
disorder, and 13% develop bipolar disorder.
Prognosis
these cases are much milder than major depressive disorder but may be more chronic in nature;
dysthymia in children or younger adults may be a precursor to other mood disorders.
Cyclothymia
Rapid cycling of hypomanic and mild depressive episodes for >2 years with no period of normal mood
lasting >2 months.
Patients retain the ability to function normally despite their mood.
Prognosis
the prognosis is similar to that for bipolar disorder, with recurrences being common despite therapy.
Social phobia
Excessive fear of social situations and anxiety that results when the patient encounters such situations
The onset is typically in childhood.
The anxiety cannot be associated with any medical conditions or substance use.
Prognosis
mild cases have a good prognosis, but more disabling cases may not improve to the same extent.
Panic disorder
The experience of recurrent, spontaneous panic attacks with the associated fear of recurrence.
Typically begins in adolescence.
Anxiety cannot be explained by a comorbid medical condition or substance use.
Severe panic disorder may lead to agoraphobia (i.e., a severe fear of public places).
A diagnosis requires both a history of recurrent panic attacks and a pervasive fear that the attacks will
Recur.
Patients with panic disorder have a higher incidence of mitral valve prolapse.
Prognosis
the prognosis is excellent, with most patients having a significant reduction in the number of
attacks after starting treatment.
168
Specific phobia
Fear of a particular object, activity, or situation that causes a patient to avoid the feared subject
Typically begins in childhood and cannot be associated with any medical comorbidity or substance use.
Prognosis
the prognosis is good, with the majority of patients being able to function normally; more
specific phobias (e.g., snakes) tend to have a better response to treatment than more general ones (e.g.,
public places).
Generalized anxiety disorder (GAD)
Excessive, persistent anxiety that impairs a patient's ability to function
Occurs on the majority of days for at least 6 months
Typically begins in early adulthood and cannot be explained by medical comorbidities or substance use
Diagnosis requires excessive anxiety, impaired ability to function, and at least three anxiety-related
symptoms for at least 6 months.
All anxiety disorders have a greater frequency in women.
It is very difficult to commit suicide using an overdose of
benzodiazepines because their lethal dose is >1,000 times the therapeutic
dose. Flumazenil is a benzodiazepine antagonist that can reverse the
effects of an overdose.
Prognosis
the prognosis depends on the level of impairment in daily function.
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Posttraumatic stress disorder (PTSD)
A syndrome of anxiety symptoms that occurs following an exposure to a significantly stressful event
Symptoms begin within 3 months of the event.
Diagnosis requires the patient to have been exposed to a traumatic event, to have symptoms of
reliving the event, to avoid situations associated with the event, and to have symptoms of increased
arousal.
Symptoms lasting more than a 1 month are considered acute, and those lasting longer than 3 months
are considered chronic.
Prognosis
two thirds of patients will recover fully from the condition, although the average time for
recovery is 3 years in treated patients and 5 years in untreated patients.
Suicide Risk factors:
Men (Men complete suicide three times more often than do women, whereas women attempt suicide
three times more frequently. Men also prefer more violent methods (e.g., hanging, firearms, jumping
from high places) as opposed to overdose)
Older adults >45yrs
Caucasian males
Social isolation
Presence of psychiatric illness/drug abuse
Perceived hopelessness
Previous attempts—the #1 risk factor
(Protective factors include religious affiliation or civic groups, married status,
and parenthood)
Adjustment disorder
Behavioral and mood changes that occur within 3 months of a stressful event (e.g., death of a loved one,
assault, divorce) and causes significant impairment in the ability to function
Symptoms begin within 3 months of the event and end within 6 months of the conclusion of the event
The symptoms are generalized and are not specific for situations associated with the stressful event.
Prognosis
suicide rates and substance abuse are increased in patients with adjustment disorder.
Bereavement
A natural period of mourning after the death of a loved one.
The patient's ability to function is not impaired.
Prognosis
the prognosis is excellent, with almost all patients recovering; persistent symptoms are
suggestive of adjustment disorder or another condition.
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Obsessive-compulsive disorder (OCD)
Significant recurrent obsessions (i.e., recurrent intrusive thoughts that are difficult to suppress and are
recognized as being abnormal) and compulsions (i.e., repetitive behaviors performed in response to an
obsession that are directed at reducing distress) that affect daily life and the ability to function
Typically begins in adolescence.
Patients with OCD may be at a higher risk for tic disorders.
Prognosis
although 70% of patients will have a significant improvement in their symptoms, OCD tends to be
a chronic condition with periodic exacerbations.
Schizophrenia Risk factors:
A severe psychotic disorder that causes significant limitations in the ability to function
It is found at a significantly higher rate in the homeless and indigent populations because of the inability
of those affected to function in society
Typically begins in late adolescence
Diagnosis requires the presence of two or more significant psychotic symptoms (i.e., delusions,
hallucinations, disorganized speech, disorganized or catatonic behavior, or negative symptoms), the
presence of the symptoms for at least 1 month within a 6-month period, and impaired social function
for >6 months
family history
maternal malnutrition
illness during pregnancy
(Good Prognosis)
• Female gender
• Older age at on set (>40)
• Acute onset of symptoms (no prodrome)
• Identifiable precipitant
• Predominantly positive; delusion and hallucinations (rather than negative) symptoms
• Presence of mood symptoms
• Good pre-morbid functioning
• No family history of schizophrenia
• Good family support
• Shorter duration of active symptoms
High-potency antipsychotics have more extrapyramidal side effects and fewer
anticholinergic side effects. Low-potency antipsychotics have fewer
extrapyramidal side effects and more anticholinergic side effects.
Tardive dyskinesia is a complication of antipsychotic medications that begins after
several months of therapy and is characterized by repetitive facial movements
(e.g., chewing, lip smacking). It may improve with cessation of the inciting
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medication but sometimes is irreversible.
Neuroleptic malignant syndrome is an uncommon complication of antipsychotic
medications that starts within days of usage and carries a high mortality rate. It is
characterized by high fever, muscle rigidity, decreased consciousness, and an
increased blood pressure and heart rate. It is treated by immediately stopping use
of the drug and administering dantrolene.
While neuroleptic malignant syndrome and malignant hyperthermia are both
characterized by high fevers, the former is associated with antipsychotic use and
the latter with inhaled anesthetic use.
Prognosis:
The prognosis is generally poor, with a gradual deterioration in the ability to function over several years;
over this time period symptoms generally wax and wane.
Positive prognostic factors include a history of a comorbid mood disorder, predominantly positive
symptoms, and good support systems.
Negative prognostic factors include predominantly negative symptoms, neurologic abnormalities, and
poor support systems.
Many patients have a history of substance abuse, and this may cause other complications associated
with the substance (e.g., HIV, cirrhosis).
Medicine noncompliance is a common problem and complicates treatment.
Ten percent of cases will end in suicide.
{The prodromal period (gradual months to years) is characterized by nonspecific mood and anxiety
symptoms (e.g., idiosyncratic thinking and perceptual disturbances, deterioration in academic or
occupational functioning, increasing social isolation) without overt delusions and hallucinations. The
presence of a prodromal phase, as opposed to acute onset of psychotic symptoms, is associated with a
worse prognosis}.
{most schizophrenia patients exhibit some residual symptoms between episodes of active psychosis and
do not completely return to their premorbid condition}.
What is the greatest risk factor for progression to schizophrenia?
Answer: Schizophreniform disorder
Borderline personality disorder
A disorder of persistent abnormal behavior characterized by intense relationships with others, poor
impulse control, and a skewed self-perception.
A patient who exhibits mild signs of a personality disorder but is able to function
normally in society is said to have a personality trait and may not require
treatment.
Alcohol and tobacco abuse are very common in patients with primary psychiatric
diagnoses.
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Prognosis
Suicide and substance abuse are the most common complications.
The response to medication is not as good as in full mood disorders or psychosis.
Symptoms tend to be lifelong but become somewhat milder with age.
Delirium Risk factors:
An acute altered state of consciousness and orientation most commonly due to medications (e.g.,
narcotics, benzodiazepines, corticosteroids, antipsychotics, anticholinergics, alcohol), substance
withdrawal, infection, hypoxia, hypoglycemia, or sleep deprivation.
Generally reversible once the underlying cause is identified and treated.
advanced age
hospitalization
medications (benzodiazepines, anticholinergics, opioids)
starting multiple new medications at once
preexisting cognitive deficits
electrolyte abnormalities
malnutrition
hypoxia
a windowless ICU environment
infections
vision or hearing deficits
severe illness
Prognosis
although most patients recover fully, there is a 25% mortality rate associated with patients with a
significant delay in identifying the causative factor; complications arise from the cognitive impairments
and include malnutrition, injuries from falls, aspiration, and pressure sores.
Dementia
A chronic progressive cognitive impairment that involves memory and at least one other cognitive
function, does not involve changes in consciousness, and significantly limits the ability to function.
Multiple etiologies exist
Alzheimer disease is a possibility
Vascular dementia: due to multiple cerebral infarcts that also features neurologic deficits in addition to
the cognitive impairment
Parkinson dementia: commonly associated with Parkinson disease
Alcohol-induced: dementia and aphasias associated with chronic alcohol use
Less common causes include Huntington disease, normal pressure hydrocephalus, endocrine diseases,
neoplasms, and chronic infections
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Prognosis
in the vast majority of cases dementia is a permanent and progressive decline in cognitive
function that leads indirectly to mortality.
Elderly patients are particularly susceptible to delirium during inpatient stays.
Delirium differs from “sundowning” (the deterioration of behavior
during evening hours in patients with dementia), in that it occurs in
patients without a history of dementia and may be linked to a medical or
substance-related cause.
Causes of dementia that may be reversible can be remembered by the mnemonic
MIND HATS: Metabolic (electrolytes, endocrine disorders), Infection, Nutrition
(poor), Drugs, Hydrocephalus (normal pressure), Atherosclerosis, Tumors, Sensory
deficits (vision, hearing).
More than 70% of the cases of dementia are due to Alzheimer disease; vascular
disease is the second most common cause of dementia and causes 15% of cases.
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Anorexia Nervosa Risk factors:
family history
Female gender (Ninety percent of the cases of anorexia nervosa are diagnosed in women).
higher socioeconomic status (SES)
poor self-esteem
psychiatric comorbidities (e.g., major depression, OCD, anxiety)
body-conscious careers/activities such as modeling, ballet and wrestling.
(Mortality from suicide or medical complications is 10%)
Ninety percent of the cases of anorexia nervosa are diagnosed in women.
Tell parents and coaches of young female athletes to be on the lookout for
the “female athlete triad” (i.e., eating disorders, amenorrhea, and
osteoporosis) that may occur in girls involved in competitive sports.
Patients with anorexia nervosa should be screened for depression, and SSRIs should
be included in treatment if depression is diagnosed.
Prognosis:
Complications include those associated with electrolyte abnormalities (e.g., arrhythmias), abnormal
gastrointestinal (GI) mobility, nephrolithiasis, infertility, peripheral neuropathy, and osteopenic
fractures.
Refeeding syndrome is the sudden increase in blood volume and change in electrolyte levels following
the initiation of a regular diet and may lead to cardiovascular collapse, rhabdomyolysis, mental status
changes, and seizures.
Half of the patients with the condition will recover fully; the mortality rate is 10% and occurs due to
arrhythmias, starvation, or suicide.
Bulimia nervosa
Prognosis
Complications from weight loss are not as common as they are in anorexia nervosa.
Esophageal rupture, Mallory-Weiss tears, and chronic reflux are risks of repeated vomiting episodes.
Half of patients will recover, but this is frequently a chronic diagnosis with general improvement and
periodic exacerbations.
Body dysmorphic disorder
A preoccupation with an imagined defect in one's appearance that limits the ability to function normally
Typically begins in adolescence.
A plastic surgeon or dermatologist should be wary of the patient with possible body
dysmorphic disorder and should consider a psychiatric referral before proceeding with
any significant procedures or treatments.
Prognosis
the prognosis is frequently good with the introduction of psychotherapy.
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Conversion disorder
The development of sensory or motor deficits or pseudoseizures following periods of significant stress
There is no identifiable associated medical condition.
Prognosis
the majority of cases self-resolve; recurrence is higher in patients experiencing pseudoseizures
Somatization disorder
A somatoform disorder in which multiple unintentional physical symptoms occur in a patient
The symptoms cannot be explained by any medical condition.
Typically begins in young adulthood, and patients must be younger than 30 years at the onset of
Symptoms.
Diagnosis requires pain at four unrelated body sites, two GI symptoms, one sexual symptom, and one
pseudoneurologic symptom.
Prognosis
the prognosis is variable, but a greater extent of symptoms upon presentation can be associated
with a greater likelihood of chronicity.
Hypochondriasis (Anxiety illness disorder)
Excessive fear that a minor symptom represents a serious illness.
Fear limits the ability to function.
Typically begins in middle aged patients.
Diagnosis requires the fear of an illness and the portrayal of symptoms for at least 6 months.
Many patients with somatization disorder and hypochondriasis will resist psychiatric
treatment because they believe that there are nonpsychiatric explanations for their
multiple symptoms.
Prognosis
the prognosis is variable, but the condition tends to improve to some degree while still remaining
a chronic condition.
Pain disorder
The development of a specific pain complaint that cannot be explained entirely by a medical condition.
The pain is not intentionally induced.
Unlike fibromyalgia, the symptoms of pain disorder are related strongly to stressful
events.
Analgesic medications will not relieve the pain symptoms with genuine pain disorder.
Prognosis
the prognosis is variable, with some patients experiencing full resolution and others having
chronic complaints.
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Factitious disorder (a.k.a. Münchhausen syndrome)
The intentional induction of disease findings by a patient that carries no clear benefit to the patient.
May involve any body system.
Diagnosis requires the intentional production of disease findings by the patient, denial of intention,
wandering of the patient from one physician to another, and no clear incentive for the patient's actions.
Münchhausen syndrome by proxy is a disorder in which parents try to make their
children appear to have a certain disease. It is considered child abuse and must be
reported to the appropriate authorities.
Prognosis
the condition tends to be a chronic problem despite the attempts at treatment.
Malingering
The intentional induction of disease or the complaint of symptoms by a patient who will directly benefit
from appearing ill.
Prognosis
because an actual disease does not exist (or did not until induction), the patient will likely
continue to act in such a way as long as he or she stands to reap benefits from his or her actions.
Autism
A condition of severe impairment in interpersonal interactions and communication and unusual
inflexible behaviors.
Mental retardation is a common comorbid condition.
Disease findings are usually exhibited prior to the age of 3 years.
Diagnosis requires six abnormal patterns of interpersonal interactions including at least two types of
impaired social interactions, one type of impaired communication, and one type of restricted
behavior.
Prognosis
the prognosis is generally poor with the majority of these patients never developing skills of
social interaction and requiring lifelong care; patients with a milder form of the disease (i.e., Asperger
disease) may be much more capable of functioning in society.
Attention-deficit/hyperactivity disorder (ADHD)
A disorder of inattention and hyperactivity in school-aged children that causes problems in multiple
Settings.
Diagnosis requires the child to have either six inattention symptoms or six hyperactivity and impulsivity
symptoms before the age of 7 years that limit the ability to function in social, educational, and organized
settings.
ADHD is four times more common in males than in females.
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Prognosis
The severity of the disease improves with age, and most patients function well by the time of young
Adulthood.
Despite the improvements in symptoms in most children, up to 50% of children will continue to exhibit
some signs of the condition into adulthood, including 15% of cases that show minimal improvement.
The rate of substance use later in life is higher than in unaffected children.
Tourette syndrome is a chronic tic disorder (motor and vocal) that is seen with higher frequency in
patients with ADHD or OCD.
Conduct disorder
A behavioral disorder of repetitive disruptive and antisocial activities that violate others' rights and the
social norms.
Diagnosis requires the presence of a problematic behavior before the age of 10 years and three such
behaviors after the age of 10 years.
Oppositional defiant disorder is similar to conduct disorder in that patients
exhibit aggressive behavior, but illegal and destructive activities do not occur.
ADHD is a comorbid condition in 50% of cases of conduct disorder.
Prognosis
One or more comorbid psychiatric disorders are found in up to two thirds of patients and include ADHD,
anxiety disorders, mood disorders, and learning disabilities.
Substance use and risky behaviors are much more common in these patients than in the general
Population.
Patients frequently will progress to antisocial personality disorder if not appropriately treated.
Learning disability
Impairment in the educational development in a healthy child with no other psychiatric diagnoses or
cognitive pathologies (e.g., Down syndrome, fragile X syndrome).
Impairments may be specific to reading, calculations, or the expression of thoughts.
Auditory and visual pathologies must be ruled out in a patient suspected for having a
learning disorder.
Prognosis
early recognition and institution of a controlled learning environment will optimize a child's
educational potential, while failure to do such will precipitate further difficulties in school and social
function.
Pupillary responses to drug intoxication may be remembered by the mnemonic “All
Crack Heads Dance, Never Clothed”: Amphetamine, Cocaine, Hallucinogens (LSD)
—Dilation of pupils; Narcotics—Constriction of pupils.
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Surgery
Obstruction Risk factors:
Prior surgery — (think adhesions)
Elderly patient with weight loss and anemia or melanotic stools (think tumor)
History of recurrent lower abdominal pain (think diverticulitis)
History of hernia (incarcerated hernia)
Sudden abdominal pain in elderly patient (don’t forget about volvulus)
(Constant movement, as the patient tries to find a position of comfort).
Pre- Op risk factors for surgery:
Cardiac risk
Ejection fraction < 35%; Prohibits noncardiac surgery.
Jugular venous distention (sign of CHF); Optimize medications with ACE inhibitors, beta blockers,
digitalis, and diuretics prior to surgery.
Recent myocardial infarction; Defer surgery for 6 months after MI.
Severe progressive angina; Perform cardiac catheterization to evaluate for possible coronary
revascularization.
Pulmonary risk
Smoking (compromised ventilation: high pCO2, FEV1 < 1.5); Order PFTs to evaluate FEV1. If FEV1 is
abnormal, obtain blood gas.
Cessation of smoking for 8 weeks prior to surgery.
Hepatic risk (BATE)
Bilirubin > 2.0
Prothrombin time > 16
Serum albumin < 3.0
Encephalopathy
— 40% mortality with any single risk factor.
— 80–85% mortality is predictable if 3 or more risk factors are present.
Dupuytren Contracture Risk factors:
Men
Age>40yrs
Northern Europe descent
Intra-abdominal abscess Risk factors:
Previous surgery*
Inflammation/Infection
Trauma
Acute mesenteric ischemia Risk factors:
Heart thrombosis→ emboli
Atherosclerosis
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Risk factors for cholecystitis:
The 5 F’s
Female
Fertile
Fat
Forties
Familial
Prognosis:
complications include cholangitis, ductal perforation, and gallstone ileus; prognosis is excellent in
uncomplicated cases, but mortality is approximately 50% if complications develop.
Cholelithiasis Prognosis:
complications include acute cholecystitis, pancreatitis, and stone recurrence; the prognosis is
excellent in asymptomatic or mildly symptomatic cases.
Necrotizing Fasciitis Risk factors:
diabetes, other immunosuppressed states
IV drug use
peripheral vascular disease
Perforation of Appendix Risk factors:
(Complicates 20% of cases)
Delay in treatment (>24 hours)
Extremes of age
Risk factors for Non-Hodgkin Lymphoma Risk factors:
a. HIV/AIDS.
b. Immunosuppression (e.g., organ transplant recipients).
c. History of certain viral infections (e.g., EBV, HTLV-1).
d. History of Helicobacter pylori gastritis (risk of primary associated gastric lymphoma).
e. Autoimmune disease—for example, Hashimoto thyroiditis or Sjögren syndrome
(risk of mucosa-associated lymphoid tissue [MALT]).
Hemorrhoids Risk factors:
Varicose veins of anus and rectum
Two types
a. External hemorrhoids—dilated veins arising from inferior hemorrhoidal plexus;
distal to dentate line (sensate area)
b. Internal hemorrhoids—dilated submucosal veins of superior rectal plexus;
above dentate line (insensate area)
Risk factors
Constipation/straining
Pregnancy
Portal HTN
Obesity
Prolonged sitting (especially truck drivers and pilots) or prolonged standing
Anal intercourse
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Erectile Dysfunction Risk factors:
The most important risk factors are those that contribute to atherosclerosis (e.g., HTN, smoking,
hyperlipidemia, diabetes)
Medications—antihypertensives (may indirectly lower intracavernosal pressure by virtue of lowering
systemic BP)
Hematologic—sickle cell disease
History of pelvic surgery or perineal trauma
Alcohol abuse
Any cause of hypogonadism/low testosterone state, including hypothyroidism
Congenital penile curvature
Carpal tunnel syndrome Risk factors:
pregnancy
rheumatoid arthritis (RA)
DM
acromegaly
hypothyroidism
obesity
overuse activity (e.g., typing, writing, piano playing), female gender
Prognosis:
ninety percent of patients will experience an improvement in their symptoms following surgical
release; complete restoration of strength and sensation may not occur in long-standing cases.
Dr Mohammad Ali Raza Qizalbash (Dr MARQ), Pakistan
[Diseases Risk factors/Prognosis/Mnemonics for USMLE STEP 3]
Sources used: MTB 2, MTB 3, MTB IM, FA 3, Step Up to Medicine, Step Up to Step 3
“No one is useless in this world who lightens the burdens of another.”
― Charles Dickens
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