Case connections are short scenarios or puzzles based on the information from the current unit of study. For the Unit 4 Case Connections assignment, you will address two of the four case connection problems in an original 10-minute video presentation. To earn full credit, you will need to describe why your chosen answer is correct while also discussing why the other answers are incorrect. Your presentation will be graded on your logic and accuracy as well as on the clarity and organization of the overall assignment. Create a script for your presentation. You will submit your script along with your video presentation. References in AMA format are also required. You may utilize any resources you like as you discuss your solution and methods, but you should include a reference page at the end of your script. This assignment is submitted through SafeAssign which is a plagiarism prevention tool that allows your instructor to check the originality of a homework submission. If your submission is has a SafeAssign score of >50% your instructor may request that you resubmit your assignment or justify this level of percent overlap. Scores of >50% raise concern over academic integrity. YOU WILL NOT BE RECORDING THE VIDEO U WILL BE WRITING THIS OUT AND ILL RECORD IBioUnit 4 Case Connections Video
Case connections are short scenarios or puzzles based on the information from the current unit of study.
For the Unit 4 Case Connections assignment, you will address two case connection problems in an
original 10-minute video presentation.
To earn full credit, you will need to describe why your chosen answer is correct while also discussing
why the other answers are incorrect. Your presentation will be graded on your logic and accuracy as well
as on the clarity and organization of the overall assignment.
● Create a script for your presentation. You will submit your script along with your video
presentation.
○ References in AMA format are also required. You may utilize any resources you like as
you discuss your solution and methods, but you should include a reference page at the
end of your script.
○ This assignment is submitted through SafeAssign which is a plagiarism prevention tool
that allows your instructor to check the originality of a homework submission. If your
submission is has a SafeAssign score of >50% your instructor may request that you
resubmit your assignment or justify this level of percent overlap. Scores of >50% raise
concern over academic integrity.
● Record your presentation as a video using a free screencast application such as
Screencast-o-matic .
○ Required: You must begin your video by showing yourself full-screen, looking directly
into the camera, and clearly stating your full name while holding up a piece of paper on
which your full name and the date are clearly written in bold writing. I f you fail to do so,
the assignment will not be graded. You will have to submit it again prior to your course
end date.
○ Upload your video to YouTube.
For help recording your case connections presentation using Screencast-o-matic and uploading your
video to YouTube, go to https://success.une.edu/blackboard-support/recording-a-presentation/
Case 1:
A newborn girl appeared normal at birth, but within 24 hours she developed lethargy, hypothermia, and
apnea. The attending physician suspects a metabolic disorder and orders a panel of labs.
Which diagnostic would be the best to distinguish between a urea cycle disorder and a disorder in β
-oxidation? (Please discuss your rationale for this choice)
a. Blood glucose
b. Urinary acids
c. Serum fatty acids
d. Plasma glutamine
UNE Online _ Case connections
A full blood work up was ordered for this female and the data is presented below.
● The initial blood ammonia level was elevated at 314 ug/dl (normal range = 17–80) and rapidly
rose to 600 ug/dl.
● The urine orotic acid level was markedly elevated at 473 umol/L creatinine (nl = 0–3).
● The plasma citrulline level was normal at 10 uM/L (nl = 12–55).
In this patient where orotic acid levels are elevated, list one urea cycle enzyme that is most likely
deficient and one urea cycle enzyme that is least likely to be impaired. (Be sure to justify your answers)
Case 2:
A 4-day old infant (patient A) is being followed in your clinic. Her birth weight was 5.9 pounds and the
pregnancy and birth (vaginal delivery) were normal. Results from newborn screening demonstrated a
phenylalanine (Phe) level of 6.6 mg/dL (normal range: 1-2 mg/dL). A presumptive diagnosis of
phenylketonuria was made and additional samples were obtained for further analysis. The parents deny
a family history of PKU.
As a consequence of this presentation which amino acid may become essential?
Phe dietary restriction therapy was initiated at 14 days of age with good response of plasma
phenylalanine levels that dropped to within the normal range (1.65 mg/dL, 100 μM) . What are the
potential cause(s) of the presentation of phenylketonuria?
Another infant (Patient B) is also being evaluated for suspected PKU. BH 4 loading tests are performed on
both patients and the results are presented below.
*BH 4 loading test: Tablets of synthetic cofactor are dissolved in 20 ml of water in dim light and
administered to the patients at least 30 min before a meal. Blood was drawn before, and 4 and 8 hours
after BH 4 loading; Phe levels are determined.
How would you summarize the results of this test for Patient A and Patient B?
UNE Online _ Case connections
Case 3:
A 47-year old man presents with severe pain in his right great toe. He is unable to bear weight on his
right foot and there was no apparent trauma. He reports the pain started last night and continued to
increase in severity. Based on his physical exam and laboratory findings he is diagnosed with gout. Gout
can be caused by several different mechanisms and blood samples are drawn and urinalysis is
performed. The results from this individual are listed below.
Patient
Plasma Urate
(mg/100 ml)
Urinary Uric Acid
(mg/24 hr)
Normal < 7.0 413 ± 78
Patient 10.5 215
What is the best explanation for the presentation of gout in this individual and please explain why the
other choices are not consistent with the data or what additional information you may need to decide
the root cause?
1. overproduction of purines
2. decreased salvage of purines
3. decreased urinary excretion of uric acid
After further discussion with the patient, he tells you that he recently switched from diet soda to regular
soda because he read that the ‘fake sugar’ diet soda was bad for him; he tells you he drinks between 4
and 5 L of soda a day. (NOTE: The primary sugar in most sodas is fructose or high fructose corn syrup.)
What is the potential impact of this dietary modification on the presentation of gout?
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