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Afi—year—old boy is brought to the office due to pallor and decreased energy. For the past 2 days, he has been less active,
uninterested in playing, and sleeping throughout the day. On review of systems, the parents note that the patient developed
fever, emesis, and diarrhea 10 days ago, but symptoms resolved after a few days without intervention. His older sister had
a sore throat a few days ago, but no other family members have been ill. The patient has no chronic medical conditions.
Temperature is 37.1 C (98.8 F), blood pressure is 120/70 mm Hg, and pulse is 145/min. Physical examination shows a
tired—appearing boy with pale lips. The abdomen is soft, nontender, and nondistended. There are a few small bruises along
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the bilateral shins. Laboratory results are as follows:

Complete blood count

Hemoglobin 6.4 gIdL

Platelets 3C|,0lI)0/mm3

Leukocytes 15,2l30/mm3

Serum chemistry

Creatinine 2_4 mgldL

Liver function studies

Total bilirubin 3.3 mgIdL

Direct bilirubin 0.1 mgIdL

Coagulation studies

PT 12 sec
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Coagulation studies

PT 12 sec

Activated PTI' 35 sec

Urinalysis

Specific gravity 1 .025

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Protein +2

Blood moderate

Leukocyte esterase Negative

Nitrites Negative

Red blood cells 20-3D/hpf

Which of the following is the most likely diagnosis in this patient?

O A. Autoimmune hemolytic anemia

O B. Disseminated intravascular coagulation

O C. Hemolytjc uremic syndrome

0 D. Immune thrombocytopenia

O E. Paroxysmal nocturnal hemoglobinuria

O F. Poststreptococcalglomerulonephritis

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owuauAq—A Question Id: 2488 Tutorial Lab Values Notes Calculator Reverse Color Text Zoom

A newborn girl is examined in the delivery room immediately after induced vaginal delivery for fetal growth restriction. She
was born to a 40-year-old woman with no significant medical history In addition to fetal growth restriction, a prenatal
ultrasound demonstrated a ventricular septal defect. Her parents declines additional prenatal testing. The patient's weight
and head circumference are <5th percentile. Examination shows hypertonia and closed fists, with the second digit
overlapping the third and the fifth overlapping the fourth. Based on this patient's presumed chromosomal abnormality,
which of the following additional physical findings is most likely to be present on examination?
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. Cat—like cry

. Cutis aplasia

_ Micrognathia

. Microphlhalmia

. Transverse palmar crease

_ Webbed neck

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A newborn boy is being evaluated in the nursery for respiratory distress. He was born an hour ago at 37 weeks gestation
via spontaneous vaginal delivery to a primigravid mother who had scant prenatal care. Delivery was uneventful During
skin-to—skin contact, the mother noticed his face turn blue, The patient was stimulated and began crying, which improved
his color. Weight, length, and head circumference are in the 25th—50th percentile. Temperature is 36.8 C (98.2 F), pulse is
1501mm, and respirations are 48/min. Pulse oximetry is 97% on room air. As the crying stops, pulse oximelIy decreases to
80% on room air. A 5—French catheter is unable to be passed through either naris. The ears are short and wide with no
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earlobes The right eye is as shown below:

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. 'i 14.1
Oropharyngeal examination reveals a cleft palate. The patient has a loud, harsh, holosystolic murmur best heard at the
lower lefl stemal border. The testes are not palpable. The skin and extremities appear normal Which of the following is
the most likely diagnosis in this patient?

O A. CHARGE syndrome

0 B. DiGeorge syndrome

0 C. Fanconi anemia

O D. Trisomy13

O E. VACTERL syndrome

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A 16—yearrold girl is brought to the office for a routine health maintenance examination. She feels well and has no
concerns. The patient is an honor student in tenth grade and plays varsity soccer She eats a well—balanced diet.
Depression screening is negative. The patient has tried marijuana "a few times“ but does not use tobacco or alcohol. She
has been sexually active with one partner for the past 2 years and takes an oral contraceptive daily. The patient‘s parents
have type 2 diabetes mellitus but are othenivise healthy. Her maternal grandfather died of a myocardial infarction at age
68. BMI is 24 kg/mz. Vital signs and physical examination are normal. Which of the following is the best next step in
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evaluation of this patient?

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O A. Chlamydia and gonorrhea testing

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0 B. Electrocardiography
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O C. Fasting lipid panel

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0 D. HemoglobinA1c

O E. Urine toxicology

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A46—yearrold woman comes to the office for evaluation of an abdominal mass. The patient first noticed a small abdominal
mass 2 months ago that was not painful and did not cause any issues However, over the past month, the mass has slowly
grown and sometimes causes mild abdominal discomfort. The patient has had no weight loss, nausea, vomiting, or
changes in bowel patterns. She undenNent a total abdominal hysterectomy and bilateral salpingo—oophorectomy for uterine
sarcoma 6 years ago. Vrtal signs are normal. BMI is 32 kg/mi. The patient has a large, vertical midline abdominal scar
consistent with her prior surgery. There is a small, nontender mass at the midline that is palpable while the patient is supine
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and increases in size with Valsalva. Bowel sounds are normal; there is no rebound or guarding. Which of the following is
the most likely diagnosis in this patient?

O A lncisional hernia

O B. Metastatic uterine sarcoma

O C. Rectus abdominis diastasis

O D. Rectus sheath hematoma

O E. Subcutaneous Iipoma

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A 15—yearrold boy is brought to the office by his parents due to worsening articulation and gait instability. His parents say
that his speech has been increasingly difficult to understand over the last 2 months, but he has had no difficulty with
comprehension. The patient has also had progressive gait instability over the last month. He is falling more frequently and
had to quit his basketball team. He has no chronic medical problems or allergies. The patient takes no medications and
does not use alcohol or illicit drugs. Blood pressure is 120.70 mm Hg and pulse is SOImin. Musculoskeletal examination
shows scoliosis. Neurologic examination reveals dysarthria and a wide—based, unstable gait. There are absent deep
11 tendon reflexes of the bilateral lower extremities. MRI of the brain and spinal cord shows marked atrophy of the medulla
and dorsal columns of the spinal cord. This patient is at greatest risk of mortality from which of the following conditions?
13
O A. Cardiac dysfunction
15
0 B. Diabetic nephropathy
17 O C. Malignancy

O D. Respiratory failure

0 E. Status epilepticus

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A 14—yearrold girl is brought to the clinic for a routine well—child visit. The girl has been healthy and her only concern is that
she has not yet had a menstrual period. Most of her friends have undergone menarche, and she wants to know when she
will start menstruating. She wears corrective glasses for myopia. Her father is 190.5 cm (6 ft 3 in) tall, and her mother is
cal

183 cm (6 ft) tall. On examination, the patient's height and weight are at the 5th and 55th percentiles, respectively. Blood
pressure is 140/90 mm Hg in the right upper arm and 90/40 mm Hg in the lower extremities. Multiple pigmented nevi are
scattered on the face and chest. Which of the following complications is this patient most at risk of developing?
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. Chronic constipation
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. Endometrial hyperplasia
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_ Intellectual disability
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_ Mitral valve prolapse

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O E. Osteoporotic fracture

O F. Visual field defects

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' 4 A3—year—old boy is brought to the office due to difficulty keeping up with the other children at day care. Over the last 2
5 months, the day care attendants have noticed that the patient has seemed more tired and less interested in active play. He
: has also had difficulty climbing stairs and jumping. The patient's parents mention that he is still eating well and gaining
— weight but has had recurrent upper respiratory infections since starting day care. His last upper respiratory infection began
9 5 days ago. Temperature is 37 C (98.6 F), blood pressure is 9050 mm Hg, pulse is 94/min, and respirations are 18Imin.
10 Examination shows clear rhinormea bilaterally. Cardiopulmonary and abdominal examinations are normal. Neurologic
11 examination demonstrates 1+ patellar and Achilles reflexes bilaterally. The calves are enlarged and nontender. Which of
. 12 the following is the most likely cause of this patient's presentation?
. 13
. 14 O A. Absent dystrophin protein expression
15
15 O B. Acetylcholine receptor antibody production

17 O C. Muscle fiber viral inflammation

0 D. Neurotransmitter neurotoxin blockade

O E. Peripheral nerve axon immune cross—reactivity

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A22—yearrold primigravida at 34 weeks gestation is brought to the emergency department by ambulance for sudden loss of
consciousness followed by generalized shaking. The paramedics started an intravenous magnesium sulfate bolus, which
was running wide open when the patient arrived at the hospital. She says she is very tired and has blurry vision and a
headache. The patient also has muscle pain and sore joints and is not able to move her light arm. Blood pressure is
145/98 mm Hg, pulse is 112/min, and respirations are 16/min. The patient holds the right arm adducted and internally
1o rotated. Examination shows loss of external rotation of the right arm but no sensory deficits. Deep tendon reflexes are 2+
11 bilaterally, and handgrip and wrist strength is preserved on both sides. Urinalysis shows 3+ protein. Which of the following
12 is the most likely cause of this patient's arm weakness?
13
. 14 O A. Anterior shoulder dislocation
15
15 O B. Magnesium toxicity
O
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. Posterior shoulder dislocation

O D. Postictal (Todd) paralysis

O E. Radial nerve compression

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A28—year—old primigravida is admitted to the hospital at 10 weeks gestation. Her temperature is 36.7 C (98.2 F), pulse is
96/min, and respirations are 12/min‘ Arterial blood gas testing results are as follows:

pH 7.49

Paco; 54 mm Hg
.

Bicarbonate 44 mqL
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Which of the following is the most likely cause of this patients abnormal arterial blood gas?
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. Asthma exacerbation
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. Diarrhea
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_ Hyperemesis gravidamm

_ Normal phenomenon of pregnancy

. Obesity hypoventilation

Pulmonary embolism

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A4—year—old boy is brought to the physician for evaluation of binge—eating. He complains constantly of hunger and has
temper tantrums when his parents refuse to give him additional snacks Past medical history is significant for hospitalization
during the first month of life for nasogastric feeding due to weak suck and hypotonia. The patient is status post orchiopexy
for bilateral cryptorchidism at age 1 year. He also receives physical and speech therapies twice a week. His height is <5th
percentile and weight is >99th percentile. On examination, he has a narrow forehead, a down—tumed mouth, almond—
shaped eyes, and small hands and feet. He has low muscle tone and a microphallus. Which of the following is the most
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likely cause of this patient's condition?

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O A. Disregulation of imprinted gene expression in chromosome 11p15

O B. Loss of the maternal copy of 15q11-q13

O C. Loss of the paternal copy of 15q11—q13

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O D. Nondisjuncfjon resulting in an extra X chromosome

0 E. X—linked mutation of the fragile X mental retardation 1 gene

0 F. X-linked mutation of the hypoxanthine-guanine phosphoribosyl transferase gene

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An 18—month—old boy is brought to the office due to developmental concerns. His parents have noticed that he does not
walk independently, which worries them because his older brother began walking at age 12 months. The patient holds on to
furniture while standing and steps sideways to move around. He can speak in 2- to 3—word sentences and follow simple
commands. The patient can also build a tower of 6 cubes, drink from a straw, and feed himself table foods. Height, weight,
and head circumference track at the 20th percentile, similar to prior visits. Dun'ng physical examination, he uses his hands
to push on his legs while getting up and seems to have pain when doing so. Which of the following is the best next step in
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evaluation of this patient?

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O A. Brain imaging

0 B. Creatine kinase level

0 C. Karyotype analysis
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0 D. Reassurance only

0 E, Serum TSH level

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AG—year—old girl is brought to the office for evaluation of pubic hair development. The girl's mother reports first noticing
axillary hair a few weeks ago while dressing her for school. The patient has also had breast and pubic hair development but
no vaginal bleeding, headaches, emesis, or visual disturbances. She has no medical conditions and takes no daily
medications. The patient had 2 long bone fractures at ages 4 and 5. Family history is unremarkable. Physical examination
reveals 2 large hyperpigmented macules with irregular contours on the left side of her back and chest. Axillae have
secondary hair; there is no freckling. Bilateral breasts have budding and enlargement of the areola. There is coarse, dark
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pubic hair along the labia and the pubicjunction. Which of the following is the most likely diagnosis in this patient?

O A. Adrenal tumor
0 B. McCune—Albn'ght syndrome

0 C. Neurofibromatosis typet

O D. Peutz—Jeghers syndrome

0 E. Sturge—Weber syndrome

0 F. Tuberous sclerosis

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An 11—year—old boy is brought to the physician for evaluation of scoliosis. His mother noticed that he always seems to be
leaning even when he tries to sit or stand upright. The boy has a history of myopia and upward lens dislocation for which he
wears corrective glasses. He otherwise has been healthy and doing well in school. His father had scoliosis and vision
problems and died from "heart problems" last year. Physical examination shows a boy with a long face, high arched palate
with crowded teeth, and upward dislocation of the lens. He has a tall stature for his age; long arms and legs with minimal
subcutaneous fat; long, thin fingers; and a prominent sternum. Joint hypermobility, skin hyperelasticity, and 15 degrees of
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thoracic scoliosis are seen. A diastolic murrnur is heard in the aortic area. Which of the following is the most likely etiology
of this patient's condition?

O A. Cystathionine synthase deficiency

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O B. Defective collagen production

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0 C. Mutation of the fibrillin—1 gene

0 D. Mutation of the fibn‘llin-Z gene

0 E. Nondisjuncljon resulting in an extra X chromosome

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A 15—yearrold girl is brought to the office for evaluation of primary amenorrhea. The patient‘s mother and older sisters
underwent menarche around age 13. The patient has had no changes in weight or nipple discharge but has difficulty
identifying various odors. She has no known medical conditions and has had no surgery. The patient takes no daily
medications and does not use tobacco, alcohol, or illicit drugs. She is not sexually active. Height is at the 3rd percentile for
age, with 4.8 cm (1.9 in) of growth noted in the last year. Visual fields are intact. No breast tissue is present, and there is
no axillary or pubic hair. Ultrasound confirms the presence of a uterus and 2 normal—appearing ovaries. Serum FSH level is
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2 mUImL (normal: 4-30 mU/m L) and LH is 3 mUImL (normal: 5-25 mUImL). Karyotype analysis of this patient is most likely
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to show which of the following?

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Q A. 45,xo
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O B. 46,XX
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O c. 46,XY
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O D. 47,xxx
O E. 47,XXY

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A5—year—old boy is brought to the emergency department by his parents for difficulty walking. The patient has had pain in
his legs since the morning and "wouldn‘t even get out of bed." The father says that his son played 2 soccer games
yesterday with no pain or trauma. One week ago, the patient had a low—grade fever and cough that have since resolved.
Review of systems is positive for a nonpmritic rash on his back and legs for the past 2 days that the parents attribute to a
new laundry detergent. He has had no nausea, emesis, weight loss, or night sweats. The patient has no significant
medical history and takes no daily medications. Temperature is 36.7 C (98 F), blood pressure is 90/40 mm Hg, pulse is
.

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138/min, and respirations are 20/min. Physical examination shows an uncomfortable-appearing boy lying in bed who cries
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with any attempt to move his legs. A purplish, nonblanching rash is noted over his buttocks and posterior thighs. Abdominal
.

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examination is soft with active bowel sounds and mild diffuse tenderness to palpation without rebound or guarding. Lower
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extremity joints demonstrate no deformity, erythema, swelling, or warmth. The patient refuses to walk due to pain in his
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legs. Laboratory results from urinalysis are as follows:

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Specific gravity 1 .016

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pH 7.0

Protein trace

Blood large

Glucose negative

Ketones negative

Leukocyte esterase negative

Nitrites negative

The patient is admitted to the hospital for further management. Which of the following complications ofthe underlying

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pH 7 .0

Protein trace

Blood large

Glucose negative

Ketones negative
.

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Leukocyte esterase negative

.

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Nitrites negative
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The patient is admitted to the hospital for further management. Which of the following complications of the underlying
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disease is he most likely to develop?

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O A. Hemolytic anemia

O B. lntussusception

O C. Joint destruction
0 D. Urethritis
O E. Uveifis
O F. Volvulus

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A 1—day—old girl is evaluated in the newborn nursery due to swollen hands and feet. She was born at term via an emergency
cesarean because her mother had preeclampsia with severe features complicated by pulmonary edema. The newbom's
vital signs are normal. Examination shows a short, webbed neck; dysplastic nails; and bilateral, nonpitting carpal and pedal
edema. Ultrasound of the abdomen shows a horseshoe kidney. Which of the following is the most likely cause of the
edema in this patient?
.
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O A. Capillary hyperpermeability
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O B. Decreased albumin synthesis

.
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0 C. Excessive sodium retention

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0 D. Increased un'nary loss of protein

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0 E. Left ventricle hypocontractility

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O F. Lymphatic network dysgenesis

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