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NURS 308 Cystic Fibrosis Case Study
NURS 308 Cystic Fibrosis Case Study
Cystic
Fibrosis Case Study
Part I – The Meeting
Sarah stared blankly at the blue paisley wallpaper. Her husband Mike sat by her side, bending and
unbending a small paper clip. “Sarah and Michael, it’s good to meet you,”
welcomed the genetic counselor, as she entered the room. “I apologize for being
late, but I was just meeting with another couple. Let’s see, you’d like to have
a child, but you’re concerned because of your family history of cystic
fibrosis.”
“Yes,” Sarah replied softly. “Mike and I met at a CF support
group meeting a few years ago. He had a younger brother who died of cystic
fibrosis, and I had a younger sister. We saw the painful lives they
had—difficulty breathing, the constant respiratory infections. Although the
treatments for CF are better now, we just don’t know if we can…” she trailed
off.
“I can certainly understand your concern,” the genetic
counselor responded sympathetically. “That’s where I hope to help, by providing
as much information and advice as I can. I’m glad that you came to see me
before you became pregnant so I can fully advise you of all options
beforehand.”
“To start, let’s go over what we know about your case so
far,” continued the genetic counselor. She pulled out a pad of paper, which she
placed on the table in front of Sarah and Michael, and began to draw a series
of circles and squares connected by lines.
“As I recall, both sets of parents did not display any of
the symptoms of cystic fibrosis, right?” “Yes,” said Sarah and Michael in
unison. The genetic counselor replied, “Ok, well that means….”
Questions
Consult your textbook and trustworthy Internet sites to
answer the following questions:
See H & M pp. 718-720
University of Utah Health Sciences. (201_). Cystic fibrosis.
Learn.Genetics—Genetic Science Learning Center. Retrieved from
http://learn.genetics.utah.edu/content/disorders/singlegene/cf/
US National Library of Medicine. (2012). Cystic fibrosis.
Genetics home reference—your guide to understanding genetic conditions.
Retrieved from https://ghr.nlm.nih.gov/condition/cystic-fibrosis
1. Which
organs are affected by cystic fibrosis?
2. What are
the disease symptoms?
Part II
“So, what’s next?” asked Mike. “First, we’ll collect DNA
samples from both of you. We’ll then analyze your CF genes for the most common
mutations to see if you are carriers for this recessive genetic disease” the
genetic counselor replied.
A few weeks later, the genetic counselor welcomed back Sarah
and Mike. “We’ve received the results of your genetic tests for common CF
mutations. Michael, you’re a carrier of the most common disease allele,
delta-F508, and Sarah, you tested negative for the most common CF mutations.”
“Thank goodness,” Sarah replied with relief. “That means it’s safe for us to
have a child, right?” “Not exactly,” cautioned the genetic counselor. “Since
Sarah tested negative for CF, it seems we don’t have much to worry about,
right?” said Michael, pointing to the pedigree in which Sarah is not a carrier.
“So, what did you mean when you said not exactly?”
The genetic counselor grabbed her laptop computer and
positioned it in front of the three of them. Her fingers quickly typed out a
web address and the words “OMIM – Online Mendelian Inheritance of Man”
stretched across the browser window. “We can learn a lot more about this
disease from this site. It will begin to explain why I said not exactly when
Sarah asked if it was safe to conceive a child.”
Questions
The Online Mendelian Inheritance of Man (OMIM) is a catalog
of known human genetic diseases. Go to OMIM at http://www.ncbi.nlm.nih.gov/omim
and search with the keyword “cystic fibrosis.” Examine the OMIM record entitled
“602421 cystic fibrosis transmembrane conductance regulator.”
5. Scroll down the
webpage and look closely at the section on “Allelic Variants.” Is the
delta-F508 mutation the only known alteration of the CFTR gene or are there
additional variants associated with cystic fibrosis?
NURS 308 Cystic Fibrosis Case Study Grading Rubric Guidelines
Performance Category | 10 | 9 | 8 | 4 | 0 |
Scholarliness
Demonstrates achievement of scholarly inquiry for professional and academic decisions. |
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Performance Category | 10 | 9 | 8 | 4 | 0 |
Application of Course Knowledge –
Demonstrate the ability to analyze, synthesize, and/or apply principles and concepts learned in the course lesson and outside readings and relate them to real-life professional situations |
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Performance Category | 5 | 4 | 3 | 2 | 0 |
Interactive Dialogue
Replies to each graded thread topic posted by the course instructor, by Wednesday, 11:59 p.m. MT, of each week, and posts a minimum of two times in each graded thread, on separate days. (5 points possible per graded thread) |
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Summarizes what was learned from the lesson, readings, and other student posts for the week. |
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Minus 1 Point | Minus 2 Point | Minus 3 Point | Minus 4 Point | Minus 5 Point | |
Grammar, Syntax, APA
Note: if there are only a few errors in these criteria, please note this for the student in as an area for improvement. If the student does not make the needed corrections in upcoming weeks, then points should be deducted. Points deducted for improper grammar, syntax and APA style of writing. The source of information is the APA Manual 6th Edition |
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0 points lost | -5 points lost | ||||
Total Participation Requirements
per discussion thread |
The student answers the threaded discussion question or topic on one day and posts a second response on another day. | The student does not meet the minimum requirement of two postings on two different days | |||
Early Participation Requirement
per discussion thread |
The student must provide a substantive answer to the graded discussion question(s) or topic(s), posted by the course instructor (not a response to a peer), by Wednesday, 11:59 p.m. MT of each week. | The student does not meet the requirement of a substantive response to the stated question or topic by Wednesday at 11:59 pm MT. |