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20 Apr 2019

What is the fundamental reason we need kidneys?

How does the glomerulus âautoregulateâ the filtration rate locally?

What would happen to someone who had a congenital disorder that caused them to lack juxtamedullary nephrons and why?

What does the body monitor in order to determine electrolyte balance?

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Nestor RutherfordLv2

22 Apr 2019

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Case Study Section 4 â Nitrogen Metabolism Based on âA Sickeningly Sweet Baby Boy: A Case Study on Autosomal Recessive Inheritanceâ by Jacqueline Washington and Anne Zayaitz (National Center for Case Study Teaching in Science) The Patient: Mathew Miller is a 7-day-old infant that is rushed to the emergency room by his parents Emma and Jacob Miller, Mennonites from Lancaster County, PA. Emmaâs pregnancy and delivery with Mathew was normal but he started having trouble nursing and now has completely stopped feeding. By the time they reach the emergency room Mathewâs limbs were rigid and he had had a seizure. The initial examination showed no infection and his x-rays were normal. The family history collected by the Doctor revealed that Emma and Jacob had had a previous son, Samuel that died at 9 days-of-age. There also is a history of unexplained childhood mortality on both sides of the family; Emmaâs mother had two sisters who died in the first year of their lives and Jacobâs father had a sister who died at 7 months of age. Emma also points out to the Doctor that Mathewâs diaper has a funny smell to it. Blood and urine samples were taken for testing and skin biopsies from Mathew, Emma, and Jacob were taken and tested for enzyme activity. The tests results showed that:

â¢ Mathewâs urine had elevated levels of the branched chain amino acids and their Î±-keto acid derivatives (which caused the sweet smell in his diapers)

â¢ Both Emma and Jacobâs skin biopsies had nearly normal levels of branched chain amino acid metabolism/enzyme activity

â¢ Mathewâs enzyme activity was less than 2% of normal

Question 1: What is the most likely diagnosis for Mathew?

A. Argininemia

B. Diabetes mellitus '

C. Maple syrup urine disease

D. Phenylketonuria

Question2: What enzyme did the skin biopsy test measure?

A. Carbamoyl phosphate synthetase I

B. Alanine aminotransferase

C. Phenylalanine hydroxylase

D. Branched-chain Î±-keto acid dehydrogenase complex

Question 3: This enzyme functions VERY similarly to two other enzymes that we have discussed, what are they?

A. Phosphofructokinase-1 and fructose 1,6-bisphosphatase (FBPAse-1)

B. Pyruvate dehydrogenase complex and Î±-ketoglutarate dehydrogenase complex

C. Urease and arginase

D. Isocitrate dehydrogenase and malate dehydrogenase

Question 4: How did Mathew (and presumably Samuel) inherit the disease if both Emma and Jacob have normal enzyme activity levels?

A. Emma and Jacob must both be carriers for the disease but their one normal gene is enough to maintain enzyme activity levels.

B. The disease can happen spontaneously, there is no genetic link.

C. Jacob is not really the father of the boys.

D. The disease can skip generations.

Question 5: What would be the best diet for Mathew to follow to control his disease?

A. Atkinâs diet (low carbohydrates, high fat, and high protein)

B. Low protein

C. Low fat

D. No special diet will control the disease

Over the next 4 years Mathewâs metabolic disease is controlled by his special diet but he still suffers approximately 3 metabolic crises a year. These occur when amino acids accumulate in his blood leading to the swelling of his brain. Even something as simple as a cold or the flu can affect his amino acid levels and send his metabolism into crisis. Jacob and Emma decide that âWe cannot continue to live in constant fear that a minor infection or a simple cold or ear infection could kill our son. Even though we are doing everything we are supposed to, he is still getting sick and we are afraid we may lose Mathew.â They learn that some children with Mathewâs disease have undergone liver transplants and are effectively cured.

Question 6: How/why would a liver transplant effectively cure Mathewâs condition?

A. A new liver would be able to spread itâs genes throughout the body and correct the genetic disorder.

B. A new liver would more effectively respond to metabolic hormonal control.

C. A new liver would express the functional enzyme needed to metabolize the amino acids causing Mathewâs condition.

D. A new liver would produce more hemoglobin to transport oxygen more effectively.

The family is directed to Dr. Morton of Childrenâs Hospital of Pittsburgh, where transplant experts agree to list Mathew for a liver transplant. Jacob and Emma learn that children who receive a liver transplant have to take strong immunosuppressive drugs for the rest of their lives. It was also clear that there was a 40% possibility that Mathew could reject the liver and need a second transplant (which also might be rejected) or he could die from surgical complications.

Question 7: Assuming the liver transplant was successful and Mathew did not reject the new liver, what type of diet would Mathew be able to/need to eat?

A. He would still need to eat his special diet but he would be at less risk of a metabolic crisis

B. He could eat a normal diet

C. He would need to change to a high protein diet like Atkinâs

D. He would be on an all liquid diet

Question 8: Emma and Jacob decide they want to try to have another child. What would be the chance that this child would also have the disorder that Mathew and Samuel have/had?

A. 0 %

B. 25%

C. 50%

D. 75%

E. 100%

Question 9: If Mathew grew up, got married, and decided to have children, what would be the chance that his children would have the disorder? A. 0%, the liver transplant would have cured him

B. 25%

C. 50%

D. 100%

E. It would depend on his wife, if she was normal than there would be a 0% chance of his children having the disorder but 100% would be carriers, if she was a carrier than there would be a 50% chance of his children having the disorder and a 50% chance that they would be a carrier.

Question 10: The disorder is found in 1 in 200,000 infants throughout the US but 1 in 200 in the Amish and Mennonites of Lancaster County, PA. Why is there such a difference in the prevalence of the disease?

A. There are environmental factors associated with being Amish or Mennonites that increase the prevalence.

B. There is a large amount of genetic similarity within these populations because they tend to marry within the population so recessive disorders such as this are more likely.

C. The gene mutation is preferentially carried in Caucasians so when you average the prevalence across all races in the US the prevalence drops.

D. It is unknown why the prevalence is so much greater in Amish and Mennonites.

Directions: Write out your answers in the word document and then copy and paste everything into the text box. If you do not include the question along with your answer, you will be marked down.

1. What would happen if you put pGLO directly onto an agar plate and you checked on it after letting it incubate?

a. It would glow

b. It would grow

c. Nothing

d. E.Coli would grow

2. Explain in a short sentence or two your reasoning for question 1.

3. What shape is a plasmid?

4. How is a plasmid different from human DNA? Write one difference.

5. Bacteria can share DNA through a unique method called transformation. What are the TWO requirements a bacteria cell must possess in order to share DNA with another bacteria cell?

6. Why during our experiment did we put our e.Coli with pGLO inserted in it onto agar plates with ampicillin (Amp)?

a. So that it would kill the e.Coli and serve as our control

b. To kill all the e.Coli that did not take up the pGLO

c. To create antibiotic resistant bacteria

d. To cause the e.Coli to glow

7. Yeast cells are what type of cell?

a. Bacteria

b. Eukaryotes

c. Prokaryotes

d. Archaea

8. Why would someone study yeast cells instead of human cells?

9. Do you agree or disagree with the following statement: If your cells is exposed to UV light and it causes a thymidine dimer, your cell is doomed to die.

10. Are wildtype (control) yeast immune to UV light damage?

11. BTB was a dye we used to directly measure ________

a. PH

b. Oxygen

c. Carbon Dioxide

d. Carbon

12. BTB was a dye we used to INDIRECTLY measure ________

a. PH

b. Oxygen

c. Carbon Dioxide

d. Carbon

13. What is one reason why a plant would want to close its stomata?

14. What is one function that ground tissues provides for a plant?

15. List one difference between monocots and dicots

16. Why is it important for a plant to have stomata? Write one reason why

17. What is the purpose of xylem in a plant cell?

18. Pholem is also important to plant cells, what is itâs purpose?

19. This theory explains why trees can grow to such tall heights and still provide water to their leaves.

a. Translocation

b. Transpiration

c. Cohesion-Tension

d. Vacuum

20. Fill in the blank

Pholem is considered to be a(n) _________ transport system while xylem is considered a(n) _______________transport system.

21. Apical meristems are found in these two places on a plant

a. At the site of new leaf growth and the roots closes to the top of the soil

b. Vascular tissue and ground tissue

c. Ground tissue and dermal tissue

d. The point of new growth on the stem and root

22. Fill in the blank.

Xylem moves substances _____ while phloem moves substances _____ a plant.

23. What are the two types of digestive mechanisms?

24. What is one benefit that mastication has for digestion?

25. What is an example of an organism that digests food intracellularly?

26. What is an example of an organism that digests food extracellularly?

27. Give two examples of where surface area is increased in a small space to aid in absorption within the human body

28. Name one difference between arteries and veins.

29. What is the role of capillaries in the circulatory system?

30. How are the terms âexcretionâ and âdefecationâ different?

31. What is the role of the ADH hormone?

32. What does the term âMedullaâ refer to when talking about mammalian tissue?

a. The outer edges of a tissue

b. The middle of a tissue

c. The top of a tissue

d. The bottom of a tissue

33. Fill in the blank

Mammals have a _______ circulatory system while insects have a _______ circulatory system.

34. What is one benefit a closed circulatory system provides?

35. What is hemolymph?

You are the charge nurse working in labor and delivery at a local hospital. D.H. comes to the unit having contractions and feeling somewhat uncomfortable. You take her to the intake room to provide privacy, have her change into a gown, and ask her three initial questions to determine your next course of action, that is, whether to do a vaginal exam or to continue asking her more questions.

What three initial questions will you ask, and why?

D.H. has contractions 2 to 3 minutes apart and lasting 45 seconds. It is her third pregnancy

(gravida 3, para 2002). Her bag of waters is intact at this time. She states that her due date is 2

days away. You determine that it is appropriate to ask for further information before a vaginal

exam is done. What information do you need?

What assessment should you make to gain further information from D.H.?

Upon examination, D.H. is 80% effaced and 4 cm dilated. The fetal heart rate (FHR) is

150 beats/min and regular. She is admitted to a labor and delivery room on the unit. What

nursing measures should be done at this time?

List the stages of labor. D.H. is in what stage of labor?

D.H. states that she is feeling discomfort and asks you whether there is alternative therapy

available before taking medication. List at least four alternative methods to assist D.H. with

controlling her discomfort.

As you assess both the mother and the fetus during the active stage of labor, you will look

for abnormalities. Which of these are potential abnormalities during labor? (Select all that

apply.)

Unusual bleeding

Brown or greenish amniotic fluid

Contractions that last 40 to 70 seconds

Sudden, severe pain

Increased maternal fatigue

11 Maternal/ObstetricCASE STUDY PROGRESS

Although D.H. continues to use alternative therapies for discomfort, she asks for pain medication and receives a dose of meperidine (Demerol). Three hours later, D.H. is lying on her back, and during contractions you notice a few late decelerations of the FHR. You stay with D.H. to monitor her and her fetus and immediately call for someone to notify the PCP.

Put these actions in order of priority accompanied with an explanation to why you chose that particular order.

Discontinue the oxytocin infusion.

Turn D.H. onto her left side and elevate her legs.

Increase the rate of the maintenance IV fluids.

Administer oxygen at 8-10 L/min by facemask.

Decelerations occur in an early, variable, or late pattern. What is the significance of these

patterns? State what the nurse should do for each type.

As you monitor D.H., you observe for prolapse of the umbilical cord. Describe what this is

and what can happen to the fetus if this occurs.

What would be done if you noted that D.H. had a prolapsed cord?

The decelerations stop, and the remainder of the labor is uneventful; D.H. has an episiotomy to allow

more room for the infant to emerge and delivers a male infant.

What is involved in the immediate care of the newborn?

As you assess the newborn, you observe for CNS depressant effects that might result because the mother received an opioid during labor. Opioid antagonists such as naloxone (Narcan) can promptly reverse the CNS depressant effects in the newborn, but when is naloxone contraindicated for an infant?

D.H. has her episiotomy repaired and the placenta delivered. What are the signs that the

placenta has released from the uterine wall?

What assessments are important for D.H. following delivery?

CASE STUDY OUTCOME

FINAL OUTCOME: D.H. and her newborn baby boy are taken to the maternity unit where she begins to breastfeed him