MN551-1: Integrate knowledge of advanced physiology and pathophysiology across the lifespan with the clinical implications for the advanced practice nurse. ONLY ADDRESS CASE 1!!!!! Case Study: Cell Biology and Genetics Below are several case studies. Your instructor will either assign you a case study or have you select one. If all of the case studies have not been covered, your instructor may assign a case study that no one has covered. Be sure to integrate your knowledge of advanced physiology and pathophysiology across the lifespan with the clinical implications for the advanced practice nurse. Case Study Posting Requirements 1. Make sure all of the topics in the case study have been addressed. 2. Cite at least three sources; journal articles, textbooks, or evidenced-based websites to support the content. 3. All sources must be within five years. 4. Do not use .com, Wikipedia, or up-to-date, etc., for your sources. Case Study 1 Marsha and Clement are both carriers of sickle cell disease, 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 dad 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 disease. 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 for developing the disease, just like his grandfather. If you were this Practitioner, how would you respond? 3. When Amelia, who does not have sickle cell disease, grows up and marries someone who does have the disease, how likely is it that her children will have the disease? Case Study 2 Maria is a sedentary, 68-year-old woman who is overweight. She complains that her hands and feet are always cold, and she tires quickly when cleaning the house. At her most recent visit to her doctor, her blood pressure was 184/98 mm Hg. She has edema around her ankles and legs, and her physician is concerned about an echocardiogram that indicates Maria has an enlarged heart. 1. Identify two reasons why Maria will have tissue ischemia. How might this lead to hypoxia? 2. What two early and reversible changes 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? 4. Predict why Maria’s heart has become enlarged. Why doesn’t this enlargement give her the same cardiac strength and endurance as a well-trained athlete? Case Study 3 Kevin worked for 10 years at a uranium mine, excavating uranium for a nearby nuclear power plant. Now, 25 years later, he has small cell lung cancer. Kevin is anorexic and has lost a consi.

1. MN551-1:
Integrate knowledge of advanced physiology and
pathophysiology across the lifespan with the clinical
implications for the advanced practice nurse.
ONLY ADDRESS CASE 1!!!!!
Case Study: Cell Biology and Genetics
Below are several case studies. Your instructor will either
assign you a case study or have you select one. If all of the case
studies have not been covered, your instructor may assign a case
study that no one has covered. Be sure to integrate your
knowledge of advanced physiology and pathophysiology across
the lifespan with the clinical implications for the advanced
practice nurse.
Case Study Posting Requirements
1.
Make sure all of the topics in the case study have been
addressed.
2.
Cite at least three sources; journal articles, textbooks, or
evidenced-based websites to support the content.
3.
All sources must be within five years.
4.

2. Do not use .com, Wikipedia, or up-to-date, etc., for your
sources.
Case Study 1
Marsha and Clement are both carriers of sickle cell disease, 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 dad 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 disease. 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
for developing the disease, just like his grandfather. If you were
this Practitioner, how would you respond?
3.
When Amelia, who does not have sickle cell disease, grows up
and marries someone who
does
have the disease, how likely is it that her children will have the
disease?
Case Study 2
Maria is a sedentary, 68-year-old woman who is overweight.
She complains that her hands and feet are always cold, and she
tires quickly when cleaning the house. At her most recent visit
to her doctor, her blood pressure was 184/98 mm Hg. She has

3. edema around her ankles and legs, and her physician is
concerned about an echocardiogram that indicates Maria has an
enlarged heart.
1.
Identify two reasons why Maria will have tissue ischemia. How
might this lead to hypoxia?
2.
What two early and reversible changes 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?
4.
Predict why Maria’s heart has become enlarged. Why doesn’t
this enlargement give her the same cardiac strength and
endurance as a well-trained athlete?
Case Study 3
Kevin worked for 10 years at a uranium mine, excavating
uranium for a nearby nuclear power plant. Now, 25 years later,
he has small cell lung cancer. Kevin is anorexic and has lost a
considerable amount of weight. His muscles are wasting, and he
is weak. He tries to move around the house throughout the day
but tires easily. It has been difficult for him to access care, and
the treatment for his cancer is just starting.
1.
With the ongoing exposure to the ionizing radiation, DNA
damage occurred. Outline the three stages of carcinogenesis that
occurred after his exposure to radiation.
2.

4. Kevin is normally a fit and active man, and his wife often
commented on how much food he used to eat after a day at
mine. Why would there be muscle wasting and weight loss now?
Explain your answer using your
3.
knowledge of the metabolic changes seen with cancer.
4.
In some cancer patients, muscle weakness may result from the
production of onconeural antigens. Describe the effects of these
antigens. What form would this process likely take in Kevin’s
situation?
Case Study 4
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. Due to her busy schedule, it took her three weeks to
visit the family doctor to have the pregnancy confirmed.
Felicity became very concerned when her physician asked
whether 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 hadn’t 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?

5. 3.
When is the fetus most vulnerable to the effects of teratogens
and why
?
Assignment Requirements:
Before finalizing your work, you should:
·
Ensure you have written at least four double-spaced pages.
·
be sure to read the Assignment description carefully (as
displayed above);
·
consult the Grading Rubric (under the Course Home) to make
sure you have included everything necessary; and
·
utilize spelling and grammar check to minimize errors.
·
follow the conventions of Standard American English (correct
grammar, punctuation, etc.);
·
be well ordered, logical, and unified, as well as original and
insightful;
·
display superior content, organization, style, and mechanics;
and
·

6. use APA 6th Edition format as outlined in the APA Progression
Ladder.