Advanced Physiology and Pathophysiology Across the Life Span (MN551)

1. Identify two reasons why Maria will have tissue ischemia. How might this lead to hypoxia?
2. What are the two early and reversible changes that occur to tissue cells when they are hypoxic?
3. What specific type of cellular adaptation has taken place in Maria’s enlarged heart? What made you come to this conclusion?

Case Study 2: Genetic Control of Cell Function and Inheritance

Marsha and Clement are both carriers of sickle cell anemia, a disease that is autosomal recessive. Their first child, Amelia, does not have the disease. Marsha and Clement are planning another pregnancy, but they are concerned about their second child having the condition. Clement’s father died from complications of sickle cell disease shortly before Amelia was born.

1. Draw a Punnett square to determine the likelihood of Marsha and Clement having a baby with sickle cell anemia. What is the chance the baby will be a carrier of the disease, just like the parents?
2. Marsha suggested to the nurse at the local family planning clinic that if the baby were a boy, he might have a higher risk of developing the disease, just like his grandfather. If you were this nurse, how would you respond?
3. When Amelia, who does not have sickle cell anemia, grows up and marries someone who does have the disease, how likely will her children have the disease?

Case Study 3: Genetic and Congenital Disorders

Felicity is a very busy 29-year-old woman in a professional career. She has diabetes mellitus and is also pregnant for the first time. Because of her busy schedule, it was over 3 weeks after missing her menstrual cycle when she visited her family doctor to have the pregnancy confirmed. Felicity became very concerned when her physician asked if she had been taking folic acid. It was all Felicity could do to remember to manage her insulin levels, and taking folic acid supplements was something she had not even considered. Her doctor told her to take 600 μg of folic acid daily and advised Felicity to return later for maternal serum marker testing.

1. Explain the potential teratogenic effect of folic acid deficiency on the developing fetus. What other risk factor is noteworthy in Felicity’s case?
2. What is the benefit of maternal serum marker testing? What other test would be particularly useful to monitor the development of Felicity’s baby in this situation?
3. When is the fetus most vulnerable to the effects of teratogens and why?

Case Study 4: Inflammation, Tissue Repair, and Wound Healing

Carlton, a 6-year-old boy, was playing on a sandy beach with his mother. He began to run along the shoreline when he stepped on the sharp edge of a shell, giving himself a deep cut on his foot. His mother washed his foot in the lake and put on his running shoe to take him home. One day later, Carlton’s foot looked worse. The gash was red and painful. The foot was warm to touch and appeared swollen. Carlton’s mom put some gauze over the wound and prepared to take him to the local community health clinic.

1. What is the physiologic mechanism causing the wound to become red, hot, swollen, and painful? How is this different from the inflammatory response that might occur in an internal organ?
2. What are the immunologic events that are happening at the local level during Carlton’s acute inflammatory response?
3. Nutrition plays an important factor in wound healing. What stages of wound healing would be affected by a deficiency in vitamins A and C?

Case Study 5: Innate and Adaptive Immunity