Property:Prompt
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A 33-year-old woman presents with complaints of diarrhea and foul-smelling bulky stools for the past 3 weeks. She previously tried several over-the-counter medications with no relief. Yesterday, she noticed an eruption of intensely pruritic papules and vesicles on her elbows, dorsal forearms, and back. She recalls that her older brother has suffered from a similar illness for approximately 5 years. Her blood pressure is 120/80 mmHg, heart rate is 70/min, and temperature is 36.8 °C (98.24 °F). Serological testing reveals elevated levels of tissue transglutaminase IgA antibodies. Which of the following HLA haplotypes most likely predisposed this patient to develop his condition? +
A married couple with strong positive family history for cystic fibrosis undergoes genetic testing. While neither the man nor his wife has cystic fibrosis, genetic tests reveal that both are carriers for the ΔF508 mutation. The couple refuses in vitro fertilization (IVF) in favor of a natural pregnancy. Which of the following is the most likely manifestation of cystic fibrosis among neonates? +
A 5-year-old boy is brought to the pediatrician's office by his parents for muscle weakness. The parents explain that when the child attempts to rise from the floor, he uses his hands and arms to “walk up” his own body. The boy undergoes genetic evaluation where portions of the ''DMD'' gene are subject to sanger sequencing of DNA. Assuming that all codons are exons of critical regions within the gene and the first three nucleotides constitute the first codon, which of the following DNA sequences is most likely to be observed in this patient?
Reference Sequence: 5'...ACA GCT TAC GGC CAT...3' +
A young couple presents to the physician's office for infertility after 18 months of failed attempts at conception despite appropriate measures. Upon further questioning, the woman had previously conceived and given birth to a healthy child in a separate relationship. The man is currently being evaluated for infertility. On physical examination, the patient is found to have low muscle mass, gynecomastia, and small testes. Laboratory studies reveal markedly elevated LH and FSH. The physician orders chromosomal karyotyping to confirm the diagnosis. Which of the following is the most likely karyotype of this patient? +
An 22-year-old man collapses while playing during a basketball game. Despite appropriate cardiopulmonary resuscitation efforts, the patient is finally pronounced dead. At autopsy, toxicological tests are negative for alcohol or illicit drugs. The pathologist further notes a large, thick myocardium with disarrayed muscle fibers. He concludes that the patient died of an arrhythmia. Mutation in the gene encoding which of the following proteins most likely caused the patient's condition? +
A 14-year-old boy is brought for evaluation by a genetics counselor. The mother explains that the boy now suffers difficulties in school and has an IQ of 70. In addition to his intellectual deficits, he displays frequent tempter tantrums and compulsive behaviors. He also reports being constantly hungry. His past medical history is significant for delayed development of language and motor milestones. Physical examination is remarkable for short stature, morbid obesity, and small testes. The child’s symptoms are most likely caused by which of the following genetic disorders? +
A 15-year-old girl is brought for evaluation by a medical geneticist. As an infant, she displayed significant development delays in both cognitive and motor functioning. She was only able to walk alone at the age of 32 months. Her past medical history is also significant for tonic seizures. Today, her gait is wide-based and she has notable ataxia. She is severely mentally retarded, with a vocabulary of approximately 20 words. Despite these symptoms she has a pleasant demeanor and laughs often without humorous stimulus. Which of the following genetic disorders is most likely responsible for the patient's condition? +
18 y/o male presents to the ED with severe pain in his right arm after he slipped and fell down the stairs at home. His right arm is swollen and extremely tender on palpation especially above his elbow. His vital signs were unremarkable. An X-ray was ordered by the ED physician and it shows a supracondylar fracture. Which of the following structures will be most likely injured in this case: +
An 18-year-old male adolescent is brought for medical evaluation. He states that he was recently diagnosed with multiple blood clots in his legs and has a history of vertebral fractures. As a child, he has missed several developmental milestones. Ophthalmic examination reveals sublaxated lens of the right eye. Which of the following disorders is the most likely diagnosis? +
A 25 year old male patient is referred to you from his primary care physicians office for a evaluation of a possible meniscal tear of the right knee. Which of the following tests should you perform first: +
38 y/o female patient of yours has been complaining of vigorous mood swings, with some days she’s having irritability, restlessness, increased energy, racing thoughts, high sex drive, and a tendency to make grand and unattainable plans. Other days, she’s too tired to get out of bed and feels hopless. You decide to start her on lithium for bipolar disorder. Which of the following blood test should you order first: +
A 67-year-old man presents with a 2-day history of severe dizziness. The symptoms are exacerbated by turning his head and relieved by lying still. He reports nausea and vomiting for the first day of his illness, but successfully eats breakfast on the day he is seen in clinic. He denies hearing loss and tinnitus. His past medical and surgical histories are unremarkable. He has no previous exposure to ototoxic drugs and denies further neurologic symptoms. Physical examination reveals an obviously uncomfortable white male in a wheelchair.Otologic examination is without abnormality. Weber testing with a 512 Hz tuning fork is to midline. Romberg testing indicates right-sided pathology. Cranial nerve examination is normal except left beating nystagmus. Vertigo is experienced after the Dix-Hallpike maneuver. Nystagmus is observed after a few seconds of lying down during the maneuver.The patient is treated with diazepam, which, on follow up, has relieved his symptoms.
What is the most likely diagnosis? +
A 35-year-old patient you see routinely in the clinic has elevated liver function tests. ALT is 92, AST is 86, and the total bilirubin and alkaline phosphatase are normal. The patient has no past history of hepatitis, taking medications, or excessive drinking. You order hepatitis serology. The results are as follows:
Positive: HBsAg and anti-HBc.
Negative: anti-HBs, anti-HBc IgM, anti-HAV, and anti-HCV
What is your interpretation based on these findings? +
A 72-year-old white female visits her physician in outpatient clinic with symptoms of vertigo. During the physical examination the physician maneuvers the patient from a sitting position to a lying position, with her shoulders and head slightly off the edge of the table. Upon rotating the head to one side, the physician observes horizontal nystagmus. Upon repetition of this maneuver, the nystagmus becomes less prominent.
Which of the following is the most likely diagnosis? +
A 42-year-old female presents with a one-year history of progressively increasing bilateral hand tremor. The tremor manifests mainly upon executing fine movements and is absent upon rest. The patient notes that the tremor disappears when she drinks alcohol. The patient denies any previous medical conditions and is not taking any medications.
Her blood pressure is 150/95, her heart rate is 85 beats per minute and her temperature is 37 degree.
What is the most appropriate medication? +
A 23-year-old man is referred to a neurologist for the evaluation of a progressively worsening vertigo and hearing loss in both ears for the past 4 months. The patient has no past medical history. The patient has no significant past medical history. He denies allergies, smoking, alcohol intake, or use of illicit drugs. A brain MRI is performed and shows bilateral cerebellopontine angle tumors. Which of the following is the most likely embryological origin of the cells from which this patient’s masses arose? +
A 9-year-old boy is brought by his mother to the physician's office with complaints of recurring infections. On physical examination, the physician observes that the patient has low set ears and eyes that appear abnormally far apart. According to the child growth chart, the patient is underweight for his age. Upon further questioning, the mother explains that the patient experienced difficulty gaining weight as a child. Following appropriate work-up, genetic testing reveals a deletion in the long arm of chromosome 22. Abnormalities of which embryological structure is most commonly associated with this patient's condition? +
Neutrophils are critically involved in the process of inflammation. The sequence of events in the recruitment of neutrophils from the vessel lumen to the stromal compartment is called extravasation, which can be divided into four major steps. Which of the following signaling mediators is involved in the migration of neutrophils across endothelial cells? +
A 27-year-old woman with no past medical history presents to her primary care physician for generalized fatigue and difficulty concentrating for the past three months. She has been smoking half a pack of cigarettes each day for the past 8 years and drinks alcohol occasionally. Upon review of systems, she reports hair loss, dry skin, constipation, and cold intolerance. Serology for anti-thyroid peroxidase antibodies is positive. This patient is at increased risk of developing which of the following malignancies? +
A 17-year-old adolescent male is brought by his parents to a new physician for an annual check-up. The patient’s face and jaw appear to be larger than normal. The patient is very slow to answer the physician's questions and sounds younger than his age. A review of his past medical history reveals cognitive assessments consistent with mental retardation along with delayed language development. The physician suspects the patient might have a genetic disease. The patient’s condition is most likely caused by the presence of trinucleotide repeats of which of the following? +