A couple attends a medical genetic counseling session seeking

advice. The man has hemophilia, while the woman is healthy, with no history of

hemophilia in her family. How high is the risk of having a child with the

disease?

Having suffered

from rubella during her pregnancy, the woman delivered a deaf child with a hare

lip and cleft palate. These congenital conditions are the example of:

The pyruvate concentration in the patient’s urine is

10 times higher than normal. What vitamin

deficiency could underlie this condition?

A person has a normal resting heart rate, which does not exceed 40 bpm

(beats per minute). Which structure is the pacemaker of the heart rhythm?  

Glutamic acid was

substituted with valine. What inherited pathology is it typical of?

After the removal of the rabbit's superior cervical

ganglion of the sympathetic trunk, its head skin is red with increased

temperature. What type of peripheral blood circulation has developed in the

rabbit?

A 70-year-old patient suffers from atherosclerosis complicated by

thrombosis of the lower limb that has caused gangrene in his left toes. What is

the most likely cause of the thrombosis?  

In blood samples taken from a group

of mountain climbers at an altitude of 3000 meters, it was found that their

HCO3 levels had decreased to 15 micromoles/l (the standard range is 22-26

micromoles/l). What mechanism is responsible for the decrease in HCO3?

After catching a cold, a patient

developed a facial expression disorder characterized by the inability to close

his eyes, raise his eyebrows, or bare his teeth. Which nerve is likely damaged

in this case?

A 27-year-old woman instilled penicillin-containing eye drops and

developed the following symptoms within a few minutes: itch and burning

sensation of the skin, swollen (=edematous) lips and eyelids, wheezing cough, and

decreased BP