At its core, pathology is the study of disease. Diseases occur for many reasons. But some, such as cystic fibrosis and Parkinson’s Disease, occur because of alterations that prevent cells from functioning normally.
Understanding of signals and symptoms of alterations in cellular processes is a critical step in diagnosis and treatment of many diseases. For the Advanced Practice Registered Nurse (APRN), this understanding can also help educate patients and guide them through their treatment plans.
For this Discussion, you examine a case study and explain the disease that is suggested. You examine the symptoms reported and explain the cells that are involved and potential alterations and impacts.
To prepare:
Post an explanation of the disease highlighted in the scenario you were provided. Include the following in your explanation:
Read a selection of your colleagues’ responses.
Respond to at least two of your colleagues on 2 different days and respectfully agree or disagree with your colleague’s assessment and explain your reasoning. In your explanation, include why their explanations make physiological sense or why they do not
Note: For this Discussion, you are required to complete your initial post before you will be able to view and respond to your colleagues’ postings. Begin by clicking on the “Post to Discussion Question” link and then select “Create Thread” to complete your initial post. Remember, once you click on Submit, you cannot delete or edit your own posts, and you cannot post anonymously. Please check your post carefully before clicking on Submit!
Excellent Good Fair Poor Main Posting 45 (45%) – 50 (50%)Answers all parts of the Discussion question(s) with reflective critical analysis and synthesis of knowledge gained from the course readings for the module and current credible sources.
Supported by at least three current, credible sources.
Written clearly and concisely with no grammatical or spelling errors and fully adheres to current APA manual writing rules and style.
40 (40%) – 44 (44%)Responds to the Discussion question(s) and is reflective with critical analysis and synthesis of knowledge gained from the course readings for the module.
At least 75% of post has exceptional depth and breadth.
Supported by at least three credible sources.
Written clearly and concisely with one or no grammatical or spelling errors and fully adheres to current APA manual writing rules and style.
35 (35%) – 39 (39%)Responds to some of the Discussion question(s).
One or two criteria are not addressed or are superficially addressed.
Is somewhat lacking reflection and critical analysis and synthesis.
Somewhat represents knowledge gained from the course readings for the module.
Post is cited with two credible sources.
Written somewhat concisely; may contain more than two spelling or grammatical errors.
Contains some APA formatting errors.
0 (0%) – 34 (34%)Does not respond to the Discussion question(s) adequately.
Lacks depth or superficially addresses criteria.
Lacks reflection and critical analysis and synthesis.
Does not represent knowledge gained from the course readings for the module.
Contains only one or no credible sources.
Not written clearly or concisely.
Contains more than two spelling or grammatical errors.
Does not adhere to current APA manual writing rules and style.
Main Post: Timeliness 10 (10%) – 10 (10%)Posts main post by Day 3. 0 (0%) – 0 (0%)N/A 0 (0%) – 0 (0%)N/A 0 (0%) – 0 (0%)Does not post main post by Day 3.First Response 17 (17%) – 18 (18%)Response exhibits synthesis, critical thinking, and application to practice settings.
Provides clear, concise opinions and ideas that are supported by at least two scholarly sources.
Demonstrates synthesis and understanding of Learning Objectives.
Communication is professional and respectful to colleagues.
Responses to faculty questions are fully answered, if posed.
Response is effectively written in standard, edited English.
15 (15%) – 16 (16%)Response exhibits critical thinking and application to practice settings.
Communication is professional and respectful to colleagues.
Responses to faculty questions are answered, if posed.
Provides clear, concise opinions and ideas that are supported by two or more credible sources.
Response is effectively written in standard, edited English.
13 (13%) – 14 (14%)Response is on topic and may have some depth.
Responses posted in the Discussion may lack effective professional communication.
Responses to faculty questions are somewhat answered, if posed.
Response may lack clear, concise opinions and ideas, and a few or no credible sources are cited.
0 (0%) – 12 (12%)Response may not be on topic and lacks depth.
Responses posted in the Discussion lack effective professional communication.
Responses to faculty questions are missing.
No credible sources are cited.
Second Response 16 (16%) – 17 (17%)Response exhibits synthesis, critical thinking, and application to practice settings.
Provides clear, concise opinions and ideas that are supported by at least two scholarly sources.
Demonstrates synthesis and understanding of Learning Objectives.
Communication is professional and respectful to colleagues.
Responses to faculty questions are fully answered, if posed.
Response is effectively written in standard, edited English.
14 (14%) – 15 (15%)Response exhibits critical thinking and application to practice settings.
Communication is professional and respectful to colleagues.
Responses to faculty questions are answered, if posed.
Provides clear, concise opinions and ideas that are supported by two or more credible sources.
Response is effectively written in standard, edited English.
12 (12%) – 13 (13%)Response is on topic and may have some depth.
Responses posted in the Discussion may lack effective professional communication.
Responses to faculty questions are somewhat answered, if posed.
Response may lack clear, concise opinions and ideas, and a few or no credible sources are cited.
0 (0%) – 11 (11%)Response may not be on topic and lacks depth.
Responses posted in the Discussion lack effective professional communication.
Responses to faculty questions are missing.
No credible sources are cited.
Participation 5 (5%) – 5 (5%)Meets requirements for participation by posting on 3 different days. 0 (0%) – 0 (0%)N/A 0 (0%) – 0 (0%)N/A 0 (0%) – 0 (0%)Does not meet requirements for participation by posting on 3 different days.
Total Points: 100
I will be responding to the group A scenario dealing with a mother and her 6-month-old daughter who has been recently diagnosed with cystic fibrosis. In response to the mothers question of what cystic fibrosis is, cystic fibrosis is an inherited, recessive disease that is a result of mutations to the cystic fibrosis transmembrane regulator gene (CFTR). Genetics plays a crucial role in cystic fibrosis as both parents must be carriers of the gene mutation to pass it to their child. Carriers of a single mutation are asymptomatic; it is only when the child receives a gene mutation from each parent that the disease is passed on.
I will know discuss the reasoning for the patient to be presenting with the specific symptoms described in the scenario. The mother describes frequent crying after eating, and despite the child displaying a “good” appetite, the child struggles to gain weight. The mother also describes the baby having a “salty taste” when kissed and that the baby’s belly “gets all swollen sometimes”. These symptoms coincide with the thickening of secretions caused by cystic fibrosis. When looking specifically at the pancreas, the thickening mucus can block ducts which can significantly decrease the amount of digestive enzymes the pancreas can secrete. The decrease in digestive enzymes from the pancreas can then lead to absorption issues with fats, proteins, and certain vitamins. The poor absorption can result in stunted growth and poor weight gain. There is also an increased risk of constipation or intestinal blockage. This situation also leads to increased bacteria which cause bloating associated GI pain. The mother verbalized that her baby had a “salty taste” when kissed and this would be related to the increased salt content in the babies sweat. Cystic fibrosis impacts the ability for sodium to travel through cells and thus it is excreted through sweat.
The mother also verbalized that her 23-month-old son has had multiple episodes of chest congestion and a hospitalization for pneumonia. While her daughter displays more symptoms related to GI issues associated with cystic fibrosis, her son appears to display symptoms of cystic fibrosis affecting his respiratory system. Much like the GI symptoms are related to the thickening of secretions of the pancreas, an individual can experience respiratory issues related to the thickening of secretions of the lungs. These thick secretions can cause persistent coughs, wheezing, and recurrent infections.
In the scenario the mother also asks the question of if she should consider having any more children. That is a complex question with many aspects to consider. If the woman already has given birth to one child with cystic fibrosis, both she and the father of the child are carriers, therefore it is important that she first understands that there is a 50% chance the baby will be a carrier, 25% chance they will develop cystic fibrosis, and a 25% chance they will not develop cystic fibrosis or be a carrier. If she were to want to have a child with another partner I would suggest obtaining a carrier screening on the different partner. The carrier status of a new partner would be significant as a negative result would eliminate the worry of passing on cystic fibrosis as both partners would need to be carriers.
John
Cutting G. R. (2015). Cystic fibrosis genetics: from molecular understanding to clinical application. Nature reviews. Genetics, 16(1), 45–56. https://doi.org/10.1038/nrg3849
Horsley, A., Cunningham, S., & Innes, A. (2015). Cystic fibrosis (Second edition.). Oxford University Press.
Peters, S. (2014). Cystic Fibrosis: A Review of Pathophysiology and Current Treatment Recommendations. South Dakota Medicine, 67(4), 148–153.
https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700