NURS 6501: Week 1 Discussion Question:
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.
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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. You must use current evidence-based resources (Primary and secondary) to support your initial posting and all responses to your colleagues.
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.
Discussion Board Topic: Genetic Alterations in Cellular Disease
Case Study: The Mystery of the Mutated Gene
A 32-year-old female, Maria, presents to the clinic with progressive muscle weakness, difficulty swallowing, and frequent respiratory infections over the past year. She reports occasional muscle cramps and has noticed twitching (fasciculations) in her arms and legs. Her mother passed away at age 50 due to complications from a neuromuscular disorder. Genetic testing reveals a mutation in the SOD1 gene, known to be associated with familial Amyotrophic Lateral Sclerosis (ALS).
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:
- Which genetic mutations are commonly associated with the disease?
- Why is the patient presenting with the specific symptoms described?
- Discuss the pathophysiological mechanisms of the disease in detail.
- What do the blood test results tell us about the disease and disease progression?