AMBOSS, UWORLD, COMBANK Exam Questions with Correct Answers Verified by Experts|
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A 28-year-old female comes to the office because she is planning a hiking trip in the mountains
and does not want to "feel bad" like she did previously. Upon further questioning, she states
the last time she went hiking through the mountains, she had a severe throbbing headache
with associated nausea and lightheadedness. These symptoms ruined her trip and she had to go
back down the mountain to recover. She wants to know if you can give her something that will
prevent these symptoms from occurring. You prescribe a medication that would be effective in
preventing these symptoms. Which ion and nephron segment pair best explains why this
medication is effective in preventing these symptoms? bicarb; PCT
Acetazolamide, a carbonic anhydrase inhibitor, can be utilized in the primary prophylaxis of
altitude sickness. Carbonic anhydrase inhibitors, such as acetazolamide, are weak diuretics.
They decrease the secretion of hydrogen ions in the proximal convoluted tubule, with increased
loss of bicarbonate and sodium. Since acetazolamide increases the loss of bicarbonate in the
urine, people will develop a mild metabolic acidosis, which can help compensate for the
respiratory alkalosis, accelerating acclimatization. It can both prevent these symptoms from
occurring and quicken the resolution of these symptoms once they have occurred.
A 36-year-old female presents to the emergency department with worsening dyspnea. Her
dyspnea has been progressing during the past year, and she has blood-tinged sputum that has
been present periodically for the past 2 months. She was adopted at 12 years of age and
immigrated to the United States at that time. She does not know her childhood medical history
but knows that she did not have access to medical care as a child. Physical examination reveals
some lung crackles and a heart murmur. An ECG indicates that there is a sinus rhythm with a
normal rate and axis. The P waves in several leads are notched; the P-wave in V1 is biphasic
with a dominant negative component. The chest radiograph shows signs of pulmonary
congestion and enlargement of the left atrium and pulmonary artery, but there is no evidence
of enlargement of either of the ventricles. Which of the following best describes this patient's
heart murmur? opening snap with low pitched decrescendo rumbling diastolic murmur (pt
has mitral stenosis)
On auscultation of the heart, MS is best heard at the apex with the patient in the left lateral
recumbent position. Electrical conduction of the engorged left atrium takes longer than with
the right atrium, which can be manifested on the ECG as notched P-waves in the limb leads
and/or a biphasic P-wave in V1. The murmur of MS begins in diastole with the opening snap of
,the mitral valve followed by decrescendo low-pitched rumbling that reflects the falling pressure
gradient during ventricular filling.
A 6-month-old male infant is brought to the pediatrician's office for a well-child visit. The child's
mother states she has been trying to introduce soft foods including rice cereal, apples, and
peaches. However, since doing so, he has been vomiting, sweating, and fatigued. Fasting serum
glucose is found to be 37 mg/dL (reference range: 74-106 mg/dL). Given his presentation, the
child most likely has elevated fructose-1-phosphate
pt has hereditary fructose intolerance
Fructose metabolism is a multi-step process that converts fructose into glucose that can be
used for energy or stored as glycogen. The first reaction involves the conversion of fructose into
fructose-1-phosphate with the assistance of adenosine triphosphate. From here, fructose-1-
phosphate is split into glyceraldehyde and dihydroxyacetone phosphate (DHAP) with the use of
aldolase B. Hereditary fructose intolerance is defined as a deficiency or absence of aldolase B.
When aldolase B is absent, fructose-1-phosphate accumulates at the expense of
glyceraldehyde-3-phosphate, normally made from glyceraldehyde and DHAP. Without this
essential molecule, metabolism is impaired, causing hypoglycemia whenever fructose is
ingested. Treatment with a fructose-free diet allows the patient to live a normal life.
A 6-year-old male is presented to his pediatrician with a 3-day history of fever of 38.9° C (102°
F), bilateral neck swellings, and loss of appetite. The patient, a recent immigrant from India, is
the child of first-degree consanguineous parents and has a history of recurrent pyogenic
bacterial infections. Physical examination reveals pallor, silvery gray hair, and oculocutaneous
albinism; generalized lymphadenopathy and hepatosplenomegaly are also noted. A complete
blood count is ordered and shows a hemoglobin of 8.6 g/dL (reference range: 14.0-18.0), white
blood count of 22.1 × 103/uL (reference range: 4.8-10.8), with lymphocytes showing single,
large, round-to-oval, purple-colored intracytoplasmic granules. Blood cultures reveal a
preponderance of staphylococci and streptococci. Which of the following immune deficiencies
does this patient most likely have? Chediak-Higashi syndrome
Bottom Line: Chédiak-Higashi syndrome is a rare autosomal recessive disorder with defective
lysosomal trafficking in targeting of granules in neutrophils, monocytes, and lymphocytes.
Symptoms are recurrent bacterial infections of the skin, mouth, and respiratory tract; partial
,albinism; and peripheral neuropathy. Cytoplasmic granules are seen in the peripheral blood
smear.
A 5-year-old Caucasian male presents to the pediatrician for a well-child examination. The
physical examination is notable for an apparent mental developmental delay with well-
developed verbal skills. His parents report that the boy has extreme friendliness with strangers.
There is an elfin appearance to his face. An electrolyte panel reveals hypercalcemia.
Chromosomal analysis is most likely to reveal a defect in chromosome 7
Bottom Line: Elfin facies, intellectual disability, hypercalcemia, and extreme friendliness
towards strangers are findings associated with William syndrome due to a deletion on
chromosome 7.
(angelman syndrome -- different -- microdeletion on chromosome 15)
A 40-year-old female is diagnosed by her primary care physician with severe peptic ulcer
disease and ultimately undergoes gastrectomy. She returns to the clinic five years later with
spasticity in her lower extremities as well as a diminished sense of vibration and touch.
pt 1: Schilling test?
pt 2: This patient's complications are due to the absence of a substance secreted by 1:
administering porcine instrinsic factor to the patient will fix vitamin B12 deficiency
2: parietal cells
A 72-year-old male presents to the emergency department with a complaint of abdominal pain.
He states that the pain started about two days ago and has been gradually getting worse. It is
described as a cramping, aching pain located in the left lower quadrant. The pain waxes and
wanes but never completely resolves. Associated symptoms include subjective fever, chills, and
diarrhea. He denies bright red, black, or maroon stools. (pt has diverticulitis)
, what would you find on OMT exam? hard, tender 5 mm nodule along left IT band
Bottom Line: The Chapman's point corresponding to the sigmoid colon would be found along
the left anterior iliotibial band.
A 9-year-old boy is playing outdoors when he begins gasping for air. A rash appears all over his
body. Since he has had a similar reaction previously, his mother rushes him to the emergency
department. On questioning, the patient's mother reports he has no previous history of
asthma. The boy is having difficulty speaking due to a swollen tongue, and complains about
having been stung by a bee just before he started having difficulty breathing. Which of the
following best describes what happened following the bee sting to account for this patient's
symptoms? binding of antigen to antibodies on surface of cells (antigen binds to IgE on
surface of mast cells -> degranulation)
The patient is most likely having an anaphylactic reaction to the bee sting as evidenced by the
difficulty breathing and the body rash. The fact that these symptoms occurred almost
immediately after the bee sting suggests the boy had been stung previously and had produced
IgE antibodies. Anaphylactic reactions are systemic type I hypersensitivity reactions that involve
degranulation of mast cells and basophils. In a sensitized individual, the first step in an
anaphylactic reaction is binding of the antigen to IgE antibodies. These IgE antibodies are
synthesized prior to the anaphylactic reaction, and are found on the surface of mast cells and
basophils, which both have Fc epsilon I receptors. These receptors bind the constant region of
the IgE antibodies, allowing the antigen binding sites to be available. Antigen cross-links 2 IgE
antibodies, resulting in release of histamine and other vasoactive compounds. These mediators
produce the symptoms of anaphylactic response by inducing vasodilation and smooth muscle
contraction. These responses occur very quickly following contact with the antigen because the
antibodies are already bound to the mast cells.
A 45-year-old female presents to her primary care physician with a mass in her neck. History
reveals she has worked in a nuclear power plant for over 25 years. Laboratory studies reveal a
thyroid stimulating hormone level of 5.0 microU/mL (reference range: 0.4-4.2 microU/mL).
Magnetic resonance imaging studies indicate a thyroid mass lesion. Biopsy reveals an irregular,
cystic mass within the parenchyma as shown in the exhibit. Regarding this tumor, it is most
appropriate to state that
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A 28-year-old female comes to the office because she is planning a hiking trip in the mountains
and does not want to "feel bad" like she did previously. Upon further questioning, she states
the last time she went hiking through the mountains, she had a severe throbbing headache
with associated nausea and lightheadedness. These symptoms ruined her trip and she had to go
back down the mountain to recover. She wants to know if you can give her something that will
prevent these symptoms from occurring. You prescribe a medication that would be effective in
preventing these symptoms. Which ion and nephron segment pair best explains why this
medication is effective in preventing these symptoms? bicarb; PCT
Acetazolamide, a carbonic anhydrase inhibitor, can be utilized in the primary prophylaxis of
altitude sickness. Carbonic anhydrase inhibitors, such as acetazolamide, are weak diuretics.
They decrease the secretion of hydrogen ions in the proximal convoluted tubule, with increased
loss of bicarbonate and sodium. Since acetazolamide increases the loss of bicarbonate in the
urine, people will develop a mild metabolic acidosis, which can help compensate for the
respiratory alkalosis, accelerating acclimatization. It can both prevent these symptoms from
occurring and quicken the resolution of these symptoms once they have occurred.
A 36-year-old female presents to the emergency department with worsening dyspnea. Her
dyspnea has been progressing during the past year, and she has blood-tinged sputum that has
been present periodically for the past 2 months. She was adopted at 12 years of age and
immigrated to the United States at that time. She does not know her childhood medical history
but knows that she did not have access to medical care as a child. Physical examination reveals
some lung crackles and a heart murmur. An ECG indicates that there is a sinus rhythm with a
normal rate and axis. The P waves in several leads are notched; the P-wave in V1 is biphasic
with a dominant negative component. The chest radiograph shows signs of pulmonary
congestion and enlargement of the left atrium and pulmonary artery, but there is no evidence
of enlargement of either of the ventricles. Which of the following best describes this patient's
heart murmur? opening snap with low pitched decrescendo rumbling diastolic murmur (pt
has mitral stenosis)
On auscultation of the heart, MS is best heard at the apex with the patient in the left lateral
recumbent position. Electrical conduction of the engorged left atrium takes longer than with
the right atrium, which can be manifested on the ECG as notched P-waves in the limb leads
and/or a biphasic P-wave in V1. The murmur of MS begins in diastole with the opening snap of
,the mitral valve followed by decrescendo low-pitched rumbling that reflects the falling pressure
gradient during ventricular filling.
A 6-month-old male infant is brought to the pediatrician's office for a well-child visit. The child's
mother states she has been trying to introduce soft foods including rice cereal, apples, and
peaches. However, since doing so, he has been vomiting, sweating, and fatigued. Fasting serum
glucose is found to be 37 mg/dL (reference range: 74-106 mg/dL). Given his presentation, the
child most likely has elevated fructose-1-phosphate
pt has hereditary fructose intolerance
Fructose metabolism is a multi-step process that converts fructose into glucose that can be
used for energy or stored as glycogen. The first reaction involves the conversion of fructose into
fructose-1-phosphate with the assistance of adenosine triphosphate. From here, fructose-1-
phosphate is split into glyceraldehyde and dihydroxyacetone phosphate (DHAP) with the use of
aldolase B. Hereditary fructose intolerance is defined as a deficiency or absence of aldolase B.
When aldolase B is absent, fructose-1-phosphate accumulates at the expense of
glyceraldehyde-3-phosphate, normally made from glyceraldehyde and DHAP. Without this
essential molecule, metabolism is impaired, causing hypoglycemia whenever fructose is
ingested. Treatment with a fructose-free diet allows the patient to live a normal life.
A 6-year-old male is presented to his pediatrician with a 3-day history of fever of 38.9° C (102°
F), bilateral neck swellings, and loss of appetite. The patient, a recent immigrant from India, is
the child of first-degree consanguineous parents and has a history of recurrent pyogenic
bacterial infections. Physical examination reveals pallor, silvery gray hair, and oculocutaneous
albinism; generalized lymphadenopathy and hepatosplenomegaly are also noted. A complete
blood count is ordered and shows a hemoglobin of 8.6 g/dL (reference range: 14.0-18.0), white
blood count of 22.1 × 103/uL (reference range: 4.8-10.8), with lymphocytes showing single,
large, round-to-oval, purple-colored intracytoplasmic granules. Blood cultures reveal a
preponderance of staphylococci and streptococci. Which of the following immune deficiencies
does this patient most likely have? Chediak-Higashi syndrome
Bottom Line: Chédiak-Higashi syndrome is a rare autosomal recessive disorder with defective
lysosomal trafficking in targeting of granules in neutrophils, monocytes, and lymphocytes.
Symptoms are recurrent bacterial infections of the skin, mouth, and respiratory tract; partial
,albinism; and peripheral neuropathy. Cytoplasmic granules are seen in the peripheral blood
smear.
A 5-year-old Caucasian male presents to the pediatrician for a well-child examination. The
physical examination is notable for an apparent mental developmental delay with well-
developed verbal skills. His parents report that the boy has extreme friendliness with strangers.
There is an elfin appearance to his face. An electrolyte panel reveals hypercalcemia.
Chromosomal analysis is most likely to reveal a defect in chromosome 7
Bottom Line: Elfin facies, intellectual disability, hypercalcemia, and extreme friendliness
towards strangers are findings associated with William syndrome due to a deletion on
chromosome 7.
(angelman syndrome -- different -- microdeletion on chromosome 15)
A 40-year-old female is diagnosed by her primary care physician with severe peptic ulcer
disease and ultimately undergoes gastrectomy. She returns to the clinic five years later with
spasticity in her lower extremities as well as a diminished sense of vibration and touch.
pt 1: Schilling test?
pt 2: This patient's complications are due to the absence of a substance secreted by 1:
administering porcine instrinsic factor to the patient will fix vitamin B12 deficiency
2: parietal cells
A 72-year-old male presents to the emergency department with a complaint of abdominal pain.
He states that the pain started about two days ago and has been gradually getting worse. It is
described as a cramping, aching pain located in the left lower quadrant. The pain waxes and
wanes but never completely resolves. Associated symptoms include subjective fever, chills, and
diarrhea. He denies bright red, black, or maroon stools. (pt has diverticulitis)
, what would you find on OMT exam? hard, tender 5 mm nodule along left IT band
Bottom Line: The Chapman's point corresponding to the sigmoid colon would be found along
the left anterior iliotibial band.
A 9-year-old boy is playing outdoors when he begins gasping for air. A rash appears all over his
body. Since he has had a similar reaction previously, his mother rushes him to the emergency
department. On questioning, the patient's mother reports he has no previous history of
asthma. The boy is having difficulty speaking due to a swollen tongue, and complains about
having been stung by a bee just before he started having difficulty breathing. Which of the
following best describes what happened following the bee sting to account for this patient's
symptoms? binding of antigen to antibodies on surface of cells (antigen binds to IgE on
surface of mast cells -> degranulation)
The patient is most likely having an anaphylactic reaction to the bee sting as evidenced by the
difficulty breathing and the body rash. The fact that these symptoms occurred almost
immediately after the bee sting suggests the boy had been stung previously and had produced
IgE antibodies. Anaphylactic reactions are systemic type I hypersensitivity reactions that involve
degranulation of mast cells and basophils. In a sensitized individual, the first step in an
anaphylactic reaction is binding of the antigen to IgE antibodies. These IgE antibodies are
synthesized prior to the anaphylactic reaction, and are found on the surface of mast cells and
basophils, which both have Fc epsilon I receptors. These receptors bind the constant region of
the IgE antibodies, allowing the antigen binding sites to be available. Antigen cross-links 2 IgE
antibodies, resulting in release of histamine and other vasoactive compounds. These mediators
produce the symptoms of anaphylactic response by inducing vasodilation and smooth muscle
contraction. These responses occur very quickly following contact with the antigen because the
antibodies are already bound to the mast cells.
A 45-year-old female presents to her primary care physician with a mass in her neck. History
reveals she has worked in a nuclear power plant for over 25 years. Laboratory studies reveal a
thyroid stimulating hormone level of 5.0 microU/mL (reference range: 0.4-4.2 microU/mL).
Magnetic resonance imaging studies indicate a thyroid mass lesion. Biopsy reveals an irregular,
cystic mass within the parenchyma as shown in the exhibit. Regarding this tumor, it is most
appropriate to state that
