RS – 6501N
Week 2: Altered Physiology
Module 1 Assignment: Case Study Analysis
An understanding of cells and cell behavior is a critically important component of disease diagnosis and treatment. But some diseases can be complex in nature, with a variety of factors and circumstances impacting their emergence and severity.
Effective disease analysis often requires an understanding that goes beyond isolated cell behavior. Genes, the environments in which cell processes operate, the impact of patient characteristics, and racial and ethnic variables all can have an important impact.
An understanding of the signals and symptoms of alterations in cellular processes is a critical step in the diagnosis and treatment of many diseases. For APRNs, this understanding can also help educate patients and guide them through their treatment plans.
In this Assignment, you examine a case study and analyze the symptoms presented. You identify cell, gene, and/or process elements that may be factors in the diagnosis, and you explain the implications to patient health.
To prepare:
By Day 1 of this week, you will be assigned to a specific case study for this Case Study Assignment. Please see the “Course Announcements” section of the classroom for your assignment from your Instructor.
The Assignment (1- to 2-page case study analysis)
Develop a 1- to 2-page case study analysis in which you:
• Explain why you think the patient presented the symptoms described.
• Identify the genes that may be associated with the development of the disease.
• Explain the process of immunosuppression and the effect it has on body systems.
By Day 7 of Week 2
Submit your Case Study Analysis Assignment by Day 7 of Week 2.
Reminder: The College of Nursing requires that all papers submitted include a title page, introduction, summary, and references. The sample paper provided at the Walden Writing Center provides an example of those required elements (available at https://academicguides.waldenu.edu/writingcenter/templates). All papers submitted must use this formatting.
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Solution
Case Study
The case involves a 65 years old patient with obesity and experiences pain in the lower quadrant region. Also, the patient has symptoms such as fever and constipation. He experienced multiple episodes of the signs and symptoms in the past 15 years; though, he has not received adequate treatment. Besides, the patient has always been using bowel rest and oral antibiotics to manage the condition. He refused to have the colonoscopy despite having a history of chronic inflammatory bowel disease, a sedentary lifestyle, and even consuming a diet lacking fiber. The patient has a family history of cancer; the grandfather died of cancer in the 1950s. Understanding such is essential in exploring the possibility of the patient having inherited the condition. The patient finally had a colonoscopy, and the findings indicated multiple polyps and adenocarcinoma of the colon. The purpose of this assignment is to analyze the genes, cells, and process elements involved in the patient’s case and outline their roles in the diagnosis and implications to the patient’s health.
Reasons for the Patient’s Presentation
Diverticulitis is a condition characterized by inflammation of the pouches in the intestine. According to Kamal et al. (2019), diverticulitis disease is common among older patients and affects the colon’s left side. Environmental factors and genetic predisposition influence the disease’s progression. Furthermore, the other causative factors for the disease include lack of fiber in the dietary intake and obesity. The complications associated with the condition include bleeding and perforation in the stomach linings. There are high chances that the patient had diverticulitis that contributed to the signs and symptoms. The inflammation in the diverticula results in painful experiences and fever. The condition can respond to antibiotics and hydration, which is why the patient had used the remedies for a long time to manage the disease. The other common signs and symptoms of diverticulitis include pain in the lower left part of the abdomen that tends to be episodic. The pain worsens after eating. Also, the patient is likely to have constipation or diarrhea with occasional blood in the stool.
Diverticulitis may either be symptomatic or asymptomatic. Most people with the condition may occur asymptomatic and unaware unless the condition is detected using colonoscopy imaging. However, the symptomatic cases are characterized by attacks in the iliac fossa. The condition can also co-exist with other diseases such as irritable bowel disease. The disease progression begins with obstruction in the diverticulum that results in intraluminal pressure, perforation, and abscesses. The patient experienced instances of constipation, which could be due to poor dietary intake.
Genetic Predisposition
Diverticulitis is a hereditary condition that commonly occurs among first-degree relatives. The specific genes involved in the condition include the TNFSF15 rs7848647, which is also associated with colon carcinoma. Besides, MLH1, MSH6, MSH2, and PMS2 are also linked with pathogenesis (Nasef & Mehta, 2020).
According to Nasef & Mehta (2020), the tumor necrosis factor superfamily member 15 is associated with an increased risk for inflammatory bowel diseases and diverticulitis. The study reports that the gene factor encodes the tumor necrosis factor ligand-related molecule 1, essential in mucosal immunity. The TNFSF15 is expressed in the endothelial cells. The TLIA is a splicing variant of the gene TNFS15 encoded by four exons (Nasef & Mehta, 2020). With the fourth exon and the adjacent intron that encodes the TL1. The TL1A is closely associated with the levels of inflammation in the course of IBD and diverticulitis. Also, their function triggers the T cell subtypes’ production, resulting in the elevated concentration of the interleukin 2 signalings. The study also explored the role of the TNFSF15 in inflammatory bowel diseases, and the findings indicated that the gene has a significant role in the inflammatory response in diverticulitis.
The MSH6 and MLH1 also have significant roles in the disease development and progression of the patient. The study by Jun et al. (2019) indicates that MLH1 and MSH2 are tumor suppressor cells involved in repairing errors occurring during genetic replication. The mutations in the MLH1 and MSH2 are associated with the development of diverticulitis. On the other hand, the loss in the function in the mismatched repair genes, including the MLH1, MSH2, PMS1, MSH6, and the PMS2, results in the microsatellite instability that eventually causes diverticulitis (Jun et al., 2019).
The Process of Immunosuppression and Effect on Body System
Immunosuppression is the process through which the body’s immune response is weakened. The process results in the inability of the body to recognize antigens and influence the production of antibodies. The immune responses occur in many phases and depend on the pathogens involved. The natural barriers, complement system, and natural killer cells are the primary line of defense for many infections. The body recognizes the antigens presented to the macrophages through the antigen-presenting cells and then triggers the T-helper cells to produce other immune responses. Therefore, one of the ways through which immunosuppression occurs is through the reduction of the amount of T-helper cells produced; therefore, reducing the ability of the body to recognize the pathogens. The process can occur naturally due to chronic infections such as HIV/AIDs, obesity, and diabetes or through therapeutic intervention. One of the drugs used in reducing the immune system is cyclosporine, which reverses the inhibition of the immunocompetent lymphocytes in the G0 and G1 phases of cell division.
Immunosuppression has significant impacts on the body system. The cyclosporine also inhibits the production of lymphokines such as interleukin-2 and the T-cell growth factor that makes one more prone to infections. The body loses its ability to fight infections, and this could trigger the rising of opportunistic infections. Besides, reduced immunity means that an individual cannot respond accordingly to the pathogens, and this could lead to cell death. Continuous exposure to pathogens also affects the body’s organ system. For example, people with prolonged COPD conditions could have compromised lungs and respiratory system functioning.
Conclusion
The patient in the case presents with diverticulitis and carcinoma in the colon. The signs and symptoms are consistent with the disease progression. The condition is genetically inheritable and is influenced by a series of genes, as indicated in this study. Finally, the human body has a natural immune response that protects the body from pathogens. Immunosuppression reduces the ability of the body to fight infection. The case helps in understanding how genetic factors play a role in disease development and progress. People with a family history of cancer are most likely to develop the disease in their lifetime, and this could explain the origin of the patient’s present condition, among other factors.
References
Jun, S., Park, E. S., Lee, J. J., Chang, H., Jung, E. S., Oh, Y., & Hong, S. (2019). Prognostic significance of Stromal and Intraepithelial tumor-infiltrating lymphocytes in small intestinal adenocarcinoma. American Journal of Clinical Pathology, 153(1), 105-118. https://doi.org/10.1093/ajcp/aqz136
Kamal, M. U., Baiomi, A., & Balar, B. (2019). Acute diverticulitis: A rare cause of abdominal pain. Gastroenterology Research, 12(4), 203-207. https://doi.org/10.14740/gr1166
Nasef, N. A., & Mehta, S. (2020). Role of inflammation in the pathophysiology of colonic disease: An update. International Journal of Molecular Sciences, 21(13), 4748. https://doi.org/10.3390/ijms21134748