NURS 6501 week 1 Discussion: Alterations in Cellular Processes

Week 1

The role genetics plays in the disease:

The identified disease relating to muscle necrosis appears to be Rhabdomyolysis. In some individuals, environmental factors interact with genetic factors to give rise to this disease. Genetically, in-borne errors of fatty acid metabolism such as deficiencies in very long-chain acyl coA dehydrogenase (VLCAD) enzymes can predispose to this disease (Leslie et al., 2015). This enzyme deficiency interrupts the normal breakdown of long chain fatty acids leading to reduced production of Acetyl coA. Since Acetyl coA is a substrate required for gluconeogenesis from ketones to generate ATP, the muscle cells lack the required ATP for normal cellular functions. The accumulation of abnormal fatty acid metabolites worsens muscle breakdown leading to Rhabdomyolysis (Leslie et al., 2015).

Why the patient is presenting with the specific symptoms described.

The symptoms elicited from patient include burning pain over the left hip and fore-arm, hyperkalemia and EKG abnormalities. The pain over the forearm and hip are caused by direct damage to the intima of blood vessels following IV drug use which may result to tissue ischemia and necrosis. Drugs of abuse such as cocaine are well known for their CNS toxicities. Cocaine causes extensive vasoconstriction leading to hypertension and ischemia. There is therefore reduced blood flow to the kidneys causing acute kidney injuries (Benowitz, 1993). This impairs kidney functions leading to dangerous levels of hyperkalemia among others. Elevated potassium causes tall T-waves on the EKG (Levis, 2013).

The physiologic response to the stimulus presented in the scenario and why you think this response occurred

The physiological response to the stimulus in the scenario was unconsciousness due to drug overdose. Opioids are psychodepressants and psychostimulants to some areas of the brain (WHO, 2009). They have the potential to interact with the opioid receptors in the brain to slow down body activities. These include breathing, heart rate as well as basal metabolic rates. CNS depression leads to loss of consciousness.

The cells that are involved in this process.

The cells involved are the endothelial cells of the blood vessels, skeletal muscle cells of the forearm and hips, and the mesangial cells of the glomerulus.

How another characteristic (e.g., gender, genetics) would change your response.

The gender of the patient will not change my response because drug-induced Rhabdomyolysis is not sex dependent. The identified enzyme deficiencies are not x-linked, so I would not change my responses if the gender was different.

References

 

Benowitz, N. L. (1993). Clinical pharmacology and toxicology of cocaine. Pharmacol Toxicol, 72(1), 3 -12. https:// doi: 10.1111/j.1600-0773.1993.tb01331.x.

Leslie N. D., Tinkle B. T., Strauss A. W., Shonner K., Zhang K. (2015). Very long-chain acyl-CoA dehydrogenase deficiency. https://scholar.google.com/scholar_lookup?title=GeneReviews%C2%AE+%5bInternet%5d.+Seattle+(WA)&author=N.D.+Leslie&author=B.T.+Tinkle&author=A.W.+Strauss&author=K.+Shonner&author=K.+Zhang&publication_year=1993%E2%80%932015&

Levis, J. (2013). ECG Diagnosis: Hyperkalemia. The Permanente Journal, 17(1), 69-69. https://doi:10.7812/tpp/12-088

World Health Organization (2009). Clinical Guidelines for Withdrawal Management and Treatment of Drug Dependence in Closed Settings. https://www.wpro.who.int/publications/docs/clinicalguidelines_forweb.pdf.

 

Discussion: Alterations in Cellular Processes

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:

  • By Day 1 of this week, you will be assigned to a specific scenario for this Discussion. Please see the “Course Announcements” section of the classroom for your assignment from your Instructor.
By Day 3 of Week 1

Post an explanation of the disease highlighted in the scenario you were provided. Include the following in your explanation:

  • The role genetics plays in the disease.
  • Why the patient is presenting with the specific symptoms described.
  • The physiologic response to the stimulus presented in the scenario and why you think this response occurred.
  • The cells that are involved in this process.
  • How another characteristic (e.g., gender, genetics) would change your response.

Read a selection of your colleagues’ responses.

By Day 6 of Week 1

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%) – 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%)
N/A
(0%) – 0 (0%)
N/A
(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%) – 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%) – 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%)
Meets requirements for participation by posting on 3 different days.
(0%) – 0 (0%)
N/A
(0%) – 0 (0%)
N/A
(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. Genetics16(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 Medicine67(4), 148–153.

http://www.acog.org

https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700