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A 23-year-old woman complains to her physician of chronic flatulence, abdominal

cramping, and being bloated. She delivered a healthy baby

3 months previously, and she states that her symptoms began several months
into her pregnancy. She had expected them to disappear after
delivery, but they did not. On further questioning, the woman reports that she has
been having alternating diarrhea and constipation. Her stool
appears dark and oily to her, and floats in the toilet bowI. She feels hungry all of
the time, and has been losing weight despite eating a great
Question 1 of 5

This woman's symptoms are most suggestive of which of the following?

/A. Biliary tract disease
/B. Cancer of the gastrointestinal tract
/C. Granulomatous infectious disease
/D. Malabsorption
/E. Psychiatric disease
Explanation - Q: 1.1


Question 2 of 5

The woman's physician initially suggests that the patient avoid milk products, but
her symptoms fail to improve. This finding is consistent with
which of the following conditions?
/A. Adenomatous polyps
/B. Appendicitis
/C. Celiac disease
/D. Cystic fibrosis
/E. UIcerative colitis
Explanation - Q: 1.2


The correct answer is C. Flatulence, bloating, and abdominal cramping

often reflect bacterial gas production as a result of utilization of unabsorbed
nutrients by the bacteria within the gut. On a practical basis, lactose
intolerance is the most common cause of malabsorption with flatulence, and a
trial of avoidance of lactose-containing milk products was reasonable. If this
fails to correct the problem, then more serious gastrointestinal (usually small
intestinal) disease must be considered. Of the list given in the choices, only
celiac disease and cystic fibrosis (choice D) commonly cause malabsorption,
and cystic fibrosis almost always presents in childhood.
Adenomatous polyps (choice A) are usually asymptomatic, but may cause

bleeding per rectum.

Appendicitis (choice B) usually presents with fever and right lower quadrant
abdominal pain.
Ulcerative colitis (choice E) can cause alternating diarrhea and constipation,
but would not usually cause significant malabsorption, since the small bowel
is not significantly involved.
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Question 3 of 5

Which of the following is usually considered to be the most accurate way of

establishing this patient's likely diagnosis?
/A. BIood culture
/B. Jejunal biopsy
/C. Nasal biopsy
/D. Rectal biopsy
/E. Stool for ova and parasites
Explanation - Q: 1.3


The correct answer is B. Jejunal biopsy demonstrating flattened mucosal

villi is considered the gold standard for demonstrating celiac disease. The
patient should have active disease (e.g., be on a normal diet and
symptomatic) at the time of biopsy in order for the diagnosis to be
established. Some clinicians also simply do a trial of gluten-free diet, to avoid
subjecting the patient to biopsy. You should also be aware that endomysial
antibody (EMA) titers in serum are relatively sensitive and specific for celiac
disease, and have been proposed (although still not widely accepted) as a
screening tool for celiac disease.
The disease does not appear to have an infectious basis, and so blood
culture (choice A) and stool examination for ova and parasites (choice E)
would not be helpful.
Celiac disease is usually confined to the small intestine, so nasal (choice C)
and rectal (choice D) biopsies would not be helpful.
Question 4 of 5

Which of the following is an example of a food that the patient should avoid?
/A. Apple
/B. Bread
/C. Carrot
/D. Lettuce
/E. Steak
Explanation - Q: 1.4

The correct answer is B. Celiac disease appears to be the result of an

immunologically mediated toxic reaction to gluten that occurs in genetically
susceptible individuals. The gluten proteins can be found in all forms of wheat
(including durum, semolina, spelt, kamut, einkorn, and faro), as well as
related grains including barley, triticale, rye, and possibly, oats. Breads are
consequently an obvious food to avoid, but patients should be warned that
the essentially complete avoidance of these grain products may require that
they prepare most of their own foods, since a surprising variety of
commercially prepared foods contain small amounts of flour or other grain
products. Even products like vinegars, alcohols, and pharmaceuticals may
have gluten-containing additives. Celiac disease often presents in childhood,
but some individuals (such as this patient) remain either asymptomatic or
undiagnosed until some event in adulthood (such as pregnancy, child birth,
surgery, viral infection, or severe emotional stress) causes an acute
exacerbation of their disease. Consequently, the absence of a life-long history
of problems should not be used to exclude the possibility of celiac disease in
a symptomatic patient.
Fresh fruits (choice A), vegetables (choices C and D), and meats (choice
E) prepared at home without additives can be eaten safely.
Question 5 of 5

Several years later, the patient cheats on her dietary restrictions and develops a
blistering, intensely itchy skin rash that has a symmetrical
distribution and is found on her elbows, knees, and buttocks. This is most likely
which of the following?
/A. Dermatitis herpetiformis
/B. Herpes simplex
/C. Herpes zoster
/D. Molluscum contagiosum
/E. Psoriasis
Explanation - Q: 1.5
The correct answer is A. Dermatitis herpetiformis is a skin condition known
to be associated with celiac disease, and, interestingly, may also be the
presenting complaint for celiac disease. The diagnosis can be confirmed by
skin biopsy with demonstration of IgA in the biopsy tissues. More than 85% of
patients with dermatitis herpetiformis also have (obviously symptomatic or
not) gluten sensitivity, and removal of gluten from the diet may improve the
skin disease. Untreated or poorly treated celiac disease is also associated
with anemia (due to iron, folate, or vitamin B12 deficiency), osteoporosis,
vitamin K deficiency with risk of hemorrhage, nervous system disorders
secondary to nutrient deficiencies, pancreatic insufficiency, and intestinal
lymphomas. Other disorders, in addition to dermatitis herpetiformis with which
celiac disease is associated, include diabetes mellitus, thyroid disease, lupus,
IgA nephropathy, primary biliary cirrhosis, and less commonly chronic active

hepatitis, scleroderma, myasthenia gravis, Addison disease, rheumatoid

arthritis, Sjgren syndrome, and Down syndrome.
Herpes simplex (choice B) and herpes zoster (choice C) are infectious
causes of vesicular skin disease not specifically associated with celiac
Molluscum contagiosum (choice D) is due to a viral infection that induces the
formation of raised papules with central craters ("small volcanoes").
Psoriasis (choice E) is a predominately autoimmune skin condition
characterized by scaly patch formation.
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During a routine examination of a 2-year-old child, the mother mentions to the

pediatrician that the child has been bloated and has passed
Iarge amounts of gas for the last several months. On further questioning, the
mother also reports that the child has been having intermittent,
but frequent episodes of watery malodorous diarrhea with abdominal cramps and
sometimes fever, which began shortly after the child was
moved to a new day care center. Other family members have also had similar
symptoms, but of shorter duration, which have since resolved.
Physical examination of the child is remarkable only for hyperactive bowel
Question 1 of 5

Which of the following is the most likely pathogen?

Explanation - Q: 2.1


The correct answer is D. All of the protozoa listed in the choices are
intestinal parasites that can cause chronic diarrhea. Giardia lamblia is the
most frequent cause of protozoal diarrhea in North America. The case history
illustrates the typical course in children who acquire the infection in a day
care setting and then go on to develop chronic infection. Giardia lamblia is an
interesting protozoal parasite whose life cycle alternates between trophozoite
and cyst stages. While most bacterial infections require inoculating doses of
hundreds to thousands of organisms or more to produce disease, giardiasis

requires ingestion of only as few as 10 or less organisms in the cyst form

(research studies have shown infection after ingestion of a single cyst). In
practice, this means that the infection is very highly communicable in a day
care or home setting, since it is difficult to remove all of the cysts from one's
hands after handling a contaminated diaper. The use of gloves and taking
care to keep children from playing with their diapers can be helpful in
controlling the spread of the disease. Giardiasis can also be acquired through
ingestion of contaminated water (it will resist chlorination of less than 8 hours
but can be killed with boiling or removed with micropore filtration), and so can
also be seen among hikers and as traveler's diarrhea. The reservoirs appear
to be beavers, bears, dog, cats, and humans.
Question 2 of 5

A thorough stool exam for ova and parasites is most likely to reveal which of the
/A. Acid fast oocyst that are 5 microns in diameter
/B. Acid fast oocysts that are 10 microns in diameter
/C. Oval cysts with up to 4 nuclei
/D. Round cysts containing no more than 4 nuclei
/E. Round cysts, including some with 5 to 8 nuclei
Explanation - Q: 2.2


The correct answer is C. The cysts of Giardia lamblia are oval, have
prominent cell walls, and up to 4 nuclei. A diagnosis of giardiasis can be
made by finding either the trophozoites and/or the cysts in a stool sample.
However, organisms are only found in 50% of cases if only one stool sample
is used. If three stool samples obtained on three different days are used, the
detection rate is approximately 90%. If stools are negative, Giardia can be
detected in duodenal material that can be sampled using the Enterotest. A
gelatin capsule that is attached to a nylon string is swallowed. After 4 to 6
hours, the string is removed and examined under the microscope for
Choice A describes the oocysts of Cryptosporidium parvum, a common
cause of mild diarrheal illness. It causes incurable, protracted diarrhea in
AIDS patients. The diagnosis of cryptosporidiosis is made by finding oocysts
in the feces using a modified acid fast or auramine stain.
Choice B describes the oocysts of Cyclospora cayetanensis, a protozoa that
has recently been identified as a cause of diarrheal illness. In 1995 and 1996,
it caused major outbreaks in the United States that were later traced to
contaminated raspberries from Guatemala. Diagnosis of cyclosporiasis can
be made by finding the acid fast oocyst in stool. Its oocyst is much larger than

that of Cryptosporidium parvum, and it is important to differentiate between

them since Cyclospora can be treated with trimethoprim-sulfamethoxazole
and other antibiotics, whereas there is no effective treatment for
Cryptosporidium parvum.
Choice D describes the cysts of Entamoeba histolytica. The diagnosis of
intestinal infection with Entamoeba histolytica can be made by finding either
trophozoites or cysts in the stool. The cysts of Entamoeba histolytica are
round, have refractile walls and contain up to four nuclei.
Choice E describes the cysts of Entamoeba coli, a nonpathogenic protozoan.
Its cysts can be distinguished from the cysts of Entamoeba histolytica
because they contain 5 to 8 nuclei.
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Question 3 of 5

How long, after exposure to this organism, do most people who develop clinical
disease exhibit symptoms?
/A. 1-2 days
/B. 3-5 days
/C. 1-3 weeks
/D. 4-6 weeks
/E. 2-3 months
Explanation - Q: 2.3


The correct answer is C. Most patients who develop clinical disease

become symptomatic 1-3 weeks after cyst ingestion. Many patients have
asymptomatic infections, and it appears that some degree of immunity is
often acquired after exposure, since clinical infection is more common in
children than in adults after known exposures. Many patients who develop
clinical illness have disease that lasts only 1 to 2 weeks, but chronic cases
also occur, and are an important source for spread of the infection. Symptoms
can include diarrhea, abdominal cramps, pale and greasy stools, fatigue,
bloating, and weight loss. The mechanism by which the organisms produce
disease is still poorly understood, but they are known to colonize (sometimes
very heavily) the surface of the small intestine without invasion into the
mucosa. Some of the symptoms may be due to an acquired (and reversible)
lactase deficiency related to malfunction of the intestinal epithelium.
Question 4 of 5

Which of the following drugs would be most effective in the treatment of this
/A. Diloxanide furoate
/B. Iodoquinol
/C. Metronidazole

/D. Paromycin
/E. Trimethoprim-sulfamethoxazole

Explanation - Q: 2.4


The correct answer is C. It is important to establish an accurate diagnosis in

protozoal intestinal infections, because different organisms have markedly
different drug sensitivities and no "shot-gun" therapy is likely to be effective.
Metronidazole (Flagyl) is effective against Giardia (and also Entamoeba); it is
not officially licensed for this use in the United States but is commonly used
anyway. Alternative agents include furazolidone (less effective than
metronidazole) and oral quinacrine (no longer available in the United States
because of severe side effects).
Diloxanide furoate (choice A) and iodoquinol (choice B) and are sometimes
used in the treatment of amebiasis.
Paromycin (choice D) can be used to treat cryptosporidiosis.
Trimethoprim-sulfamethoxazole (choice E) can be used to treat isosporiasis
and cyclosporiasis.
Question 5 of 5

This disease would most likely contribute to the patient's death if which of the
following diseases were also present?
/B. Crohn disease
/C. Goodpasture's syndrome
/D. Measles
/E. Minimal change disease
Explanation - Q: 2.5
The correct answer is A. Patients who have had rectal contact during sex
with an infected partner may easily acquire giardiasis. If these patients also
have AIDS, a particularly overwhelming infection may occur, with essentially
"wall-to-wall" colonization of the intestinal mucosal surface with Giardia. In
these severe cases, the malabsorption that is produced may be sufficiently
severe to induce malnutrition, which will exacerbate the AIDS patient's
already high vulnerability to other infectious disease. The diseases listed in
the other choices are distracters that have no particular link to giardiasis.

A 62-year-old man complains to his physician that he has noticed a marked

increase in the amount of flatulence he experiences. He has also
been experiencing intermittent, but increasing abdominal pain, and has had a 20
pound weight loss in the last month. On physical
examination, he seems to be slightly jaundiced. AIkaline phosphatase and
bilirubin are increased. CT scan demonstrates a mass in the head
of the pancreas.
Question 1 of 4

Approximately how many Americans in the United States are diagnosed with this
disorder each year?
/A. 280
/B. 2,800
/C. 28,000
/D. 280,000
/E. 2,800,000
Explanation - Q: 3.1


The correct answer is C. Approximately 28,000 patients in the United States

are diagnosed with pancreatic cancer yearly, and nearly that number also die
of it yearly. Pancreatic cancer is a deadly disease, with one of the highest
mortalities of any cancer, many patients dying within one year of diagnosis.
The underlying problem is that pancreatic cancer tends to not produce
symptoms until after metastases to nearby critical structures (lymph nodes,
liver, celiac plexus, superior mesenteric vessels, Ligament of Treitz, portal
vein) have occurred. At least some pancreatic cancers appear to have a
genetic basis. The National Familial Pancreas Cancer Registry now has over
250 families with two or more members with pancreatic cancer. Also, the
second familial breast cancer gene, BRCA2 (in both men and women),
appears to be important, and may account for the increased incidence of
pancreatic cancer seen in Ashkenazi Jews. Other rare syndromes that may
have pancreatic cancer as a component include Peutz-Jeghers syndrome,
familial melanoma, hereditary colon cancer (the form without polyps), and
hereditary pancreatitis.
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Question 2 of 4

Which of the following is an important risk factor for developing this disorder?
/A. Aflatoxin exposure
/B. AIcohol use
/C. Caffeine ingestion
/D. Cigarette smoking
/E. Hepatitis B infection

Explanation - Q: 3.2


The correct answer is D. Cigarette smoking appears to be a very important

risk factor for pancreatic carcinoma, but interestingly, neither alcohol use
(choice B) nor caffeine ingestion (choice C) have been implicated. Other risk
factors include older age, race (more common in African-Americans and
some Jewish groups than Caucasians), gender (men more than women, but
may just reflect smoking rates), chronic pancreatitis, diabetes mellitus, gastric
resection, and diet (bad: meats, cholesterol, fried foods, nitrosamines; good:
fruit, vegetables).
Exposure to the fungal product aflatoxin (choice A) and hepatitis B (choice
E) are risk factors for liver, but not pancreatic, cancers.
Question 3 of 4

In patients with this man's condition with intractable pain referred to the back, the
network of nerves around the aorta is sometimes blocked
with alcohoI. This network is known as which of the following?
/A. Celiac plexus
/B. Choroid plexus
/C. Esophageal plexus
/D. Hepatic plexus
/E. Mesenteric plexus
Explanation - Q: 3.3
The correct answer is A. The celiac plexus contains the nerves around the
aorta that may be stimulated by either pressure or direct involvement by
tumor, and so produce pain.
The choroid plexus (choice B) is a vascular plexus of the eye, and is also a
vascular plexus extending into the ventricles.
The esophageal plexus (choice C) refers to the nerve plexus around the
The hepatic plexus (choice D) is the division of the celiac plexus that
accompanies the hepatic artery and portal vein to the liver.
There are actually two mesenteric plexuses (choice E), which accompany
the superior and inferior mesenteric arteries.
Question 4 of 4

Which of the following surgical methods is used most often to treat patients with
small tumors of the head of the pancreas with no evidence of
/A. Billroth l procedure

/B. Billroth ll procedure

/C. Roux-en-Y gastric bypass
/D. Vertical banded gastroplasty
/E. Whipple procedure

Explanation - Q: 3.4


The correct answer is E. While you do not need to know a great deal about
surgery for the Step 1 USMLE examination, a few operations may be
mentioned. Among these is the Whipple procedure, also known as a
pancreaticoduodenectomy. In this surgical procedure, the duodenum,
proximal pancreas, gallbladder, and sometimes, the distal stomach are
resected. The remaining pancreas, biliary tree, and stomach are then
reattached to the small intestine. The Whipple procedure is only performed in
the relatively small percentage of patients who may have resectable disease.
Tumors of the tail of the pancreas might, in theory, be more easily resected,
but this area tends to not produce any signs or symptoms until late in the
disease, after metastasis has occurred. Pancreatic cancers that are not
resectable can be treated with chemotherapy and radiation therapy.
Immunotherapy using a vaccine based on the patient's own cancer cells is
also being tried experimentally, and shows promise. An important thing to
remember when treating these patients (and other poor prognosis patients) is
that long-term survivors have occurred, and that even if death eventually
intervenes, a survival of several years may be very much worthwhile to both
the patient and his family (particularly if young children are indirectly
The Billroth I and II procedures (choices A and B ) are used to treat gastric
carcinomas and intractable peptic ulcers of the duodenum and stomach.
While you could argue that the gastric resection part of the Whipple
procedure resembles a Billroth II operation, you should pick the Whipple
procedure if both answers are available, because it is much more specific for
pancreatic carcinoma.
The Roux-en-Y gastric bypass (choice C) and vertical banded gastroplasty
(choice D) are used to treat obesity by reducing the effective stomach
A 14-year-old girl asks her pediatrician if there is anything she can do about the
large amounts of gas she passes during class at schooI. She
states that her flatulence is worse in the afternoon, and she often has diarrhea
when she goes home from schooI. Her symptoms generally
subside by morning, and she thinks she is better on weekends. She has been
having these problems for four or five years, but has the
impression that they are worse now than when she was younger.
Question 1 of 5

The physician suspects food intolerance. Statistically, intolerance to which of the

following would be most likely in this patient's age group and

with her history?

/A. Fructose
/B. Galactose
/C. Lactose
/D. Maltose
/E. Sucrose
Explanation - Q: 4.1


The correct answer is C. Lactose intolerance is the most common form of

intolerance to sugars. Some authors argue that it is often not even really a
"disease," but rather a natural consequence of the maturation of the small
intestine, with resulting reduction in the levels of mucosal lactase. Caucasians
tend to have a lower incidence of symptomatic problems than many other
races (e.g., Blacks, Asians and Native Americans). Impaired absorption of the
other sugars listed in the choices can also occur, but is rare.
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Question 2 of 5

A consulting dietician identifies a major food group that should be avoided by the
young patient and further cautions that avoiding these foods
may put her at risk for a secondary dietary deficiency. If the patient removes the
offending food from her diet, she is at greatest risk of
developing a deficiency of which of the following?
/A. Calcium
/B. Chloride
/C. Iron
/D. Potassium
/E. Sodium
Explanation - Q: 4.2


The correct answer is A. Lactose is found predominately in milk and milk

products. Aged cheeses and butter have lower concentrations of lactose and
may be tolerated by many individuals. Complete removal of milk products
from the diet puts the individual at greatest risk for developing calcium
deficiency, because milk products are a major source of calcium. Three easy
ways to prevent the deficiency are to encourage the individual to drink fruit
juice products supplemented with calcium, to use lactose-free milk products,
and to chew calcium-containing antacid tablets. Lactase enzyme is also
available in forms that can be added to milk (usually hours before drinking) or
taken as tablets before eating a lactose-containing meal.
Table salt is the usual source of sodium and chloride (choices B and E).

Meats are the most important dietary source of iron (choice C).
Dietary deficiencies of potassium (choice D) are usually only seen if severe
restriction of all fruits and vegetables is present or if the patient is taking a Klosing diuretic.
Question 3 of 5

This patient's diarrhea would be most accurately described as which of the

/A. Diarrhea related to increased intestinal motility
/B. Diarrhea related to short gut syndrome
/C. Exudative diarrhea
/D. Osmotic diarrhea
/E. Secretory diarrhea
Explanation - Q: 4.3


The correct answer is D. While there is some overlap in mechanisms in

some cases of diarrhea, it can be helpful to conceptualize diarrhea into
categories based on the mechanism accounting for the diarrhea. In this case,
the lactose sugar that is retained in the gut markedly increases the osmolarity
of the gut contents, which provides a physiologic force that tends to hold fluid
in the gut.
Irritable bowel syndrome is a good example of a type of diarrhea due to
increased intestinal motility (choice A).
The diarrhea seen in infants after recovery from necrotizing enterocolitis is a
good example of diarrhea related to a short gut (choice B).
The diarrhea seen in patients with invasive amebiasis is an example of an
exudative diarrhea (choice C).
The toxin-mediated diarrhea seen in cholera is a good example of a secretory
diarrhea (choice E).
Question 4 of 5

The undigested carbohydrate passing into the colon will induce enzymes for its
metabolism in resident E. Coli. The mechanism that induces
gene expression for these enzymes most directly involves the carbohydrate
/A. binding to a repressor protein
/B. binding to an activator protein
/C. binding to an enhancer element associated with the gene region
/D. decreasing cAMP within the E. Coli
/E. increasing cAMP within the E.Coli

Explanation - Q: 4.4


The correct answer is A. The enzymes required to metabolize lactose are

encoded by the lactose operon in E. coli. Lactose induces gene expression
by binding to a repressor protein and interfering with repressor binding to the
operator region of the DNA. Lack of repression contributes to inducing
expression of the genes. E. coli carries out lactose fermentation, producing
hydrogen gas that may be exhaled and detected in the breath of individuals
who are lactose intolerant.
Lactose has no direct effect on the cAMP concentration (choices D and E).
cAMP concentrations are more directly controlled by the extracellular
concentration of glucose. In response to a low extracellular glucose
concentration, cAMP increases, binds to an activator protein (choice B) that
in turn binds to a CAP region (similar to a eukaryotic enhancer) (choice C) in
the DNA. This mechanism does not directly involve lactose.
Question 5 of 5

The result of a large population study to determine the adult distribution of

deficiency of the intestinal enzyme that would normally metabolize
the nutrient in question is shown in the graph above. Given this data, if one
wanted to determine the heritability of this deficiency, the most
appropriate test would be which of the following?
/A. A concordance study in twins
/B. Calculation of the Hardy-Weinberg distribution
/C. Calculation of the linkage dysequilibrium
/D. Log of the odds (LOD) score calculation
/E. Spectral karyotype

Explanation - Q: 4.5


The correct answer is A. The graph shows a distribution characteristic of a

multifactorial trait. If one wanted to determine the contribution of genes
(heritability) versus non-genetic factors (diet, environment, etc.), a
concordance study in monozygotic (MZ) versus dizygotic (DZ) twins would be
appropriate. Heritability is calculated as (C MZ - CDZ)/(1- CDZ ). It is not
necessary to memorize the calculation but rather to understand the concept
of heritability and concordance studies in twins.
The Hardy-Weinberg equation (choice B) is most commonly used to
calculate carrier frequencies in recessive disease. It can also be used to
calculate the disease prevalence from the carrier frequency. Although it can
be applied to dominant genetic diseases, there is no carrier status in these
conditions and the equation is not typically used in these cases.
Linkage dysequilibrium exists if specific combinations of alleles at two loci are
seen together more often than expected by chance. Calculation of linkage
dysequilibrium (choice C) is most commonly used in mapping genes.
A LOD score calculation (choice D) is used to identify linkage between two
genetic loci. A common usage is in establishing linkage between a disease
phenotype and a known chromosomal marker in an effort to map the gene
A spectral karyotype (choice E) is used to assess cytogenetic abnormalities
such as trisomies, deletions, and translocations.