Archives: Medical Student Finals

MSFinals-1576

A young couple presents for infertility assessment. The man, a 22-year-old barman, has a history of recurrent upper and lower respiratory tract infections. Review of systems is remarkable for cough and shortness of breath on exertion. He often has copious, foul-smelling sputum, which is occasionally blood-tinged. His bowel habits are normal, except for intermittent constipation for a year. He has been diagnosed with irritable bowel syndrome. He has never smoked and drinks alcohol occasionally, on weekends. His vital signs are within normal limits. His nasal mucosa appears congested. There is mild maxillary sinus tenderness on palpation. Scattered wheezing and crackles are noted on lung auscultation. Neurologic and abdominal examinations are otherwise normal. Semen analysis reveals abnormal sperm motility.
What is the most likely additional finding in this patient?

MSFinals-1577

A 35-year-old engineer has just found out that he has a genetic disorder. He and his wife are expecting their first child and are worried about the possibility of the baby inheriting the same condition. The doctor explains that the disorder is passed down in an autosomal recessive pattern and talks about the implications for this pregnancy and any future offspring.

Which of the following illnesses is most accurately characterized as being inherited in an autosomal recessive fashion?

MSFinals-1578

A 35-year-old man presents with sudden-onset chest pain described as tearing in nature. Upon examination, a diastolic murmur consistent with aortic regurgitation is detected. Further testing with chest computerised tomography (CT) confirms an ascending aortic dissection. The patient has a history of spontaneous pneumothorax and upward lens dislocation, but no significant family history. What is the probable underlying diagnosis?

MSFinals-1579

A preterm baby boy is found to have meconium ileus shortly after birth.
Which of the following conditions is most commonly associated with meconium ileus?

MSFinals-1580

A 6-month-old infant presents to the Emergency Department with respiratory distress. The child has epicanthic folds and a single palmar crease. Genetic testing confirms an autosomal trisomy.

What is the most frequently observed cardiac anomaly in infants with this genetic condition?

MSFinals-1581

A 6-year-old girl is presenting with swelling of her hands and feet and an abnormally wide neck. Upon karyotyping, it is discovered that she has monosomy X and 45X. During physical examination, mild aortic stenosis is observed. What congenital condition is most likely linked to this patient’s symptoms?

MSFinals-1582

A child is born with a genetic condition that is inherited in an autosomal dominant manner. The parents are informed of this. What is the most likely condition that the child has?

MSFinals-1583

Select the phrase that accurately characterizes the method by which gene transcription is triggered.

MSFinals-1584

After evaluating a patient with an uncommon inherited mitochondrial disorder during a Clinic visit, you determine to revisit and update your understanding of cellular function. What statement accurately describes the role of mitochondria in human cells?

MSFinals-1585

A patient in their 40s has a family history of blindness, phaeochromocytomas, renal cell carcinomas and haemangioblastomas.
Which gene is implicated?