Property:Prompt
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A 46-year-old man is brought to the emergency department by his son for worsening jerky movements, progressive loss of memory, and aggressiveness. His symptoms started 2 years ago and have been progressively worsening. The patient's father and grandfather died of similar symptoms. Levels of which of the following compounds is most likely imbalanced in this patient? +
A 19-year-old male presents for evaluation of shortness of breath. He has episodes of wheezing sound and chest tightness. His symptoms worsen if he tries to exercise, especially when it is cold. He has used an over the counter inhaler with good relief of his symptoms, but he finds that his symptoms are worsening. He now has episodes of wheezing on a daily basis and will have nighttime wheezing and coughing, on average, four or five times a month. Physician suspects a diagnosis of asthma.
Which of the following would confirm his suspicion of the diagnosis of asthma? +
A 35-year-old man presents to the emergency department (ED) for a persistent and painful erection for the past 5 hours. Upon further questioning, he reports he is a single man with no recent sexual activity or trauma to the genitals. The patient also denies any personal or family history of coagulation or hemoglobin disorders. His medical history is only significant for insomnia and major depression for the past 4 months, for which he was prescribed an antidepressant medication whose name he cannot recall. In the ED, the patient's blood pressure is 176/110 mmHg, temperature is 37 °C (98.6 °F), heart rate is 98/minute, and respiratory rate is 20/minute. On physical examination, the patient appears in pain. His penis is fully erect and tender, with no color changes or other signs of necrosis. The physician in the ED suspects the patient's symptoms may be drug-induced. Which of the following is the mechanism of action of the drug responsible for the patient's symptoms? +
A 79-year-old diabetic woman complains of worsening pain and burning sensation in both feet for the past 7 months. The patient admits that she has not been compliant with her diabetes medication. Her blood pressure is 125/80 mmHg, heart rate is 70/minute, and temperature is 37 °C (98.6 °F). Neurological examination of the lower extremities reveals a 5/5 motor strength bilaterally, decreased pinprick sensation in both legs below the knees, with 1/4 Achilles tendon reflexes bilaterally. Laboratory tests reveal an HbA1c level of 10.8%. Following education on lifestyle changes and compliance to medications, the physician also prescribes duloxetine to relieve the patient’s symptoms. Which of the following is the mechanism of action of this drug? +
A 25-year-old woman complains of generalized fatigue for the past 8 months. The patient reports she is generally unhappy and lacks motivation at work. She believes her co-workers reject her and admits she does not have any friends. She spends most of her time at home sleeping. When she wakes up, she is either watching TV or eating fast food. The patient also mentions that she feels an unusual sensation of heaviness in her arms and legs that makes it difficult for her to get out of bed sometimes. Upon further questioning, she denies suicidal or homicidal thoughts or feelings of worthlessness. The physician prescribes a pharmacologic agent to relieve the patient's symptoms. Which of the following is the mechanism of action of the drug the patient is receiving? +
A 17-year-old girl presents to her primary care physician complaining of fatigue and gastrointestinal pain. Her menstrual cycle is regular with no menorrhagia or dysmenorrhea. She denies an association of her pain with food intake or bowel movements. The patient reports she has no sexual activity. Further questioning reveals that she has a strong family history of colon cancer at young age. Following appropriate work-up, flexible sigmoidoscopy reveals thousands of polyps lining her colon. The patient is referred for genetic studies. A defect in which of the following genes is most likely responsible for the patient's condition? +
A 20-year-old man presents to the emergency department (ED) with an acute severe substernal chest pain at rest. The patient denies recent physical trauma or illicit drug use. His past medical history is unremarkable. His father died of cardiovascular disease at young age, and his mother was recently diagnosed with lung cancer. In the ED, the patient is afebrile, blood pressure is 175/90 mmHg, heart rate is 110/min, and respiratory rate is 22/min. His ECG shows ST-segment elevation in leads V1-V4. Laboratory values show elevated troponin, LDL-cholesterol of 840 mg/dL, and HDL-cholesterol of 30 mg/dL. Which of the following is most likely true of this patient’s condition? +
A 42-year-old woman presents to her physician for gradual onset of uncontrolled spastic movements. She reports she also started experiencing mood disturbances and difficulty performing her job for the past 3 months. Her past medical history is remarkable for gastro-esophageal reflux disease (GERD), for which she takes daily omeprazole. The patient denies smoking, alcohol intake, or illicit drug use. Further questioning reveals that her father died of a neurodegenerative condition at the age of 50. The patient has researched her likely condition on the internet and is most concerned about having passed the trait onto her children. She inquires about genetic testing. Which of the following is most likely present in this patient's genetic results? +
A 8-year-old boy is brought to the pediatrician's office by his mother for chronic weakness. She reports that her child started to have trouble running and rising from chairs at the age of 5. He has become progressively weaker over the past 3 years and now requires braces to walk. Physical examination is remarkable for proximal weakness of the upper and lower extremities. The pediatrician also notes atrophy of the gluteus maximus and accessory muscles of the pelvis, with unusually large calf muscles. The physician suspects a genetic disease and refers the patient to genetic testing. Which of the following mRNA sequences is most likely present in this patient?
Normal DNA Sequence:
<br>5'...GGC TAC GTG AAG AAG TCT...3'
<br>3'...CCG ATG CAC TTC TTC AGA...5' +
A 4-year-old boy is brought by his mother to the physician's office for an immigration medical exam. He has recently immigrated with his family from Brazil to the United States. His mother reports that the boy has begun bumping into furniture very often; she has concerns that his vision may be compromised. She shows you an image in which the pupil of his left eye has a bright whitish reflection due to the camera flash. Upon further questioning, it is revealed that the boy’s father underwent surgery at a young age, leaving him blind in both eyes. Two days later, the offending lesion is surgically removed and the tissue is analyzed for molecular genetic features. Chromosome 13 displays a normal karyotype. A set of common single nucleotide polymorphisms (SNPs) on chromosome 13q is profiled and the resulting SNP identities are displayed below. Assume all of the SNPs have an allelic fraction in the general population of approximately 50%. The ''RB1'' gene spans positions 48,934,153 to 48,951,170 on chromosome 13. Which of the following molecular events most likely occurred in the boy’s somatic tissues to cause his condition?
<table>
<tr><td>SNP ID</td><td>Chromosome</td><td>Genomic Position</td><td>Genotype</td></tr>
<tr><td>rs4771054</td><td>13</td><td>27562342</td><td>CC</td></tr>
<tr><td>rs17626553</td><td>13</td><td>28968770</td><td>CT</td></tr>
<tr><td>rs2776961</td><td>13</td><td>30101280</td><td>GT</td></tr>
<tr><td>rs144430040</td><td>13</td><td>31085367</td><td>CC</td></tr>
<tr><td>rs4941731</td><td>13</td><td>33568060</td><td>GG</td></tr>
<tr><td>rs9528533</td><td>13</td><td>34588335</td><td>CT</td></tr>
<tr><td>rs9548644</td><td>13</td><td>39720610</td><td>AA</td></tr>
<tr><td>rs9315803</td><td>13</td><td>41623184</td><td>GT</td></tr>
<tr><td>rs9634767</td><td>13</td><td>42270305</td><td>CT</td></tr>
<tr><td>rs2044732</td><td>13</td><td>42833400</td><td>AG</td></tr>
<tr><td>rs17536002</td><td>13</td><td>43035209</td><td>TT</td></tr>
<tr><td>rs11619528</td><td>13</td><td>44826355</td><td>TT</td></tr>
<tr><td>rs12866473</td><td>13</td><td>46037501</td><td>CC</td></tr>
<tr><td>rs1413077</td><td>13</td><td>47875303</td><td>AA</td></tr>
<tr><td>rs7329865</td><td>13</td><td>49154165</td><td>AA</td></tr>
<tr><td>rs895967</td><td>13</td><td>49347566</td><td>GG</td></tr>
<tr><td>rs2191226</td><td>13</td><td>50940143</td><td>AA</td></tr>
<tr><td>rs4943003</td><td>13</td><td>52090383</td><td>GG</td></tr>
<tr><td>rs476136</td><td>13</td><td>53413498</td><td>GG</td></tr>
<tr><td>rs10507581</td><td>13</td><td>54154463</td><td>GG</td></tr>
<tr><td>rs9591632</td><td>13</td><td>55611511</td><td>CC</td></tr>
<tr><td>rs4885962</td><td>13</td><td>56863954</td><td>AA</td></tr>
<tr><td>rs2592866</td><td>13</td><td>58226942</td><td>GG</td></tr>
<tr><td>rs1411645</td><td>13</td><td>59052343</td><td>CC</td></tr>
<tr><td>rs6562010</td><td>13</td><td>59711493</td><td>TT</td></tr>
</table>
A 10-year-old girl is taken into the custody of child protective services after her teacher noticed that she has had the consistent appearance of new bruises for the second month in a row. She is brought to a pediatrician for medical examination. The pediatrician collects a thorough history during which the girl insists that her parents have not harmed her; she just “plays rough”. Further questioning reveals that the girl would like to become a performer in a circus because she is unusually flexible and can contort her limbs in ways her peers cannot. Physical examination is remarkable for hyperextensible skin with multiple widened atrophic scars. The physician reassures the girl, and advises child protective services that the child may return to her parents. Which of the following statements is true of the child’s condition? +
A 28-year-old man with dwarfism recently married a woman of normal stature. Neither of his parents had dwarfism, nor did any of his two siblings. Further questioning reveals that his parents conceived him when his father was 52 years old and his mother was 28. The patient and his wife are interested in having children and seek genetic counseling. Which of the following statements is most likely true? +
A 48-year-old woman presents to her primary care physician with a gradual onset of increasing fatigue, swelling in her feet, and anorexia. Recently, she has also been noticing her urine color is darker, and she is having an unusual back pain. The patient's past medical history is only significant for appendectomy and cesarean section. She denies smoking, alcohol intake, or use of illicit drugs. Her father is a renal transplant recipient and her paternal uncle is currently on hemodialysis. In the clinic, her temperature is 37.2 °C (98.9 °F), her blood pressure is 155/110 mmHg, and her heart rate is 76/min. Physical examination is remarkable for bilateral solid masses that can be palpated during abdominal examination. Light tapping of the back elicits sharp pain on both sides. Laboratory studies are significant for hemoglobin count of 9.8 g/dL, serum creatinine of 2.3 mg/dL, and BUN of 20 mmol/L. Urinalysis is remarkable for 500+ RBC/hpf. Which of the following is most likely true regarding this patient’s condition? +
A 16-year-old male adolescent presents to his pediatrician for an annual check-up. The patient complains only of pain in his joints and muscles that he has attributed to growing pains. Otherwise, a 14-point review of systems is unrevealing. During physical examination, the physician notices several unusual features. The patient is unusually tall, with long slender limbs, fingers, and toes. On ophthalmic exam, the patient displays a slight superotemporal subluxation of the lens in the right eye. The physician orders molecular genetic testing of the ''FBN1'' gene and confirms the diagnosis. Which of the following molecular defects underlie the syndrome that phenotypically resembles that of the patient's condition? +
A 5-year-old girl is brought to the pediatrician's office by her mother. The child complains of the gradual onset of difficulty swallowing and hoarseness. She has a history of inability to produce tears and gastrointestinal distress that did not resolve with dietary modifications. She reports that her gastrointestinal symptoms have worsened and she now has recurrent bouts of diarrhea with little relation to food intake. Upon further questioning, the patient reports she is also experiencing occasional flushing episodes as well. Her blood pressure is 110/70 mmHg, heart rate is 66/min, and temperature is 36.8 °C (98.24 °F). On physical examination, the patient appears tall and slender. The physician also notes diffusely hypertrophied lips that contain numerous yellowish-white, sessile, painless nodules. The patient's eyelids are also thickened and everted. Laboratory studies are remarkable for elevated concentration of serum calcitonin. Development of which of the following tumors is this patient most at risk for? +
A 32-year-old woman is rushed to the emergency department after being involved in a motor vehicle accident. She complains of a sudden onset of tearing chest pain that radiates between the scapulae and the back. The pain is associated with shortness of breath, cold sweats, and weakness of the lower extremities. In the ED, her blood pressure is 152/86 mmHg in the left arm and 90/60 mmHg in the right arm, heart rate is 110/min, and respiratory rate is 20/min. On physical examination, the physician notes that the patient is unusually tall and lean, with very long fingers and hyperextensible joints. Chest X-ray reveals a widened mediastinum. If a genetic defect has predisposed the patient to her current condition, which of the following is the most likely involved gene? +
A newborn boy is found to be cyanotic following birth. Appropriate work-up is performed; and the patient is diagnosed with tetralogy of Fallot. In the patient's pre-operative chest x-ray report, the radiologist notes an absence of the thymic shadow. The patient then undergoes surgery that successfully corrects his cyanosis. Over the next few days, he suffers a seizure that is attributed to low calcium blood levels. Which of the following abnormalities most likely caused this child’s condition? +
A 46-year-old man is being followed for chronic myelogenous leukemia (CML). His oncologist would like to assess his patient’s response to imatinib and monitor for early signs of relapse. Which of the following tests is optimal for this purpose? +
A 14-year-old girl is evaluated for failure to experience menarche. The patient is 1.45 m (4’ 9”) tall, has downward slanting of the eyes, low hairline, and a webbed neck. Further inspection reveals a broad chest and increased carrying angle of the elbow. Which of the following findings are most likely associated with this patient's condition? +
During an outbreak of an infectious disease, a 30-year-old man presents to the emergency department with fever for the past 2 days. He complains that he has diffuse body aches with myalgia and loss of appetite. Further history-taking reveals that the patient was recently bitten by a ''Culex'' mosquito. The patient's blood pressure is 110/84 mmHg, heart rate is 102/min, and temperature is 38.4 °C (101.12 °F). Physical examination, including neurological exam, is unremarkable. The physician suspects the patient might be infected by an agent that has also infected bird species in the same district. Which of the following best characterizes the infectious agent responsible for this patient's condition? +