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4 pages/β‰ˆ1100 words
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Health, Medicine, Nursing
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Research Paper
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English (U.S.)
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Topic:

Pancreatic Cystic Fibrosis (CF): Case Study

Research Paper Instructions:

PLEASE DON'T WRITE ON THIS DISEASE, read the instruction below
Duchesne's muscular dystrophy, Huntington's disease, Down's syndrome, sickle-cell anemia, BRCA 1 or BRCA 2 mutations
thanks for your understanding
You will be creating a case study in stages over four course topics. This assignment will add to your previous work in Topic 2. Use an example from your own personal practice, experience, or your own personal/family (however, simulated cases are not acceptable for practice hours and therefore not acceptable for this assignment). Examples might include a patient with Duchesne's muscular dystrophy, Huntington's disease, Down's syndrome, sickle-cell anemia, BRCA 1 or BRCA 2 mutations, or another genetic disorder that you or the organization you practice in may specialize in treating.
THESE ARE THE FOURTH TOPICS
Topic 1 DQ 1
You have studied the essential structural elements of a functional eukaryotic chromosome. Select an essential structural element of interest. What are the implications of this element for research, health, and life span? How can the doctoral-prepared nurse apply this information in practice? Explain. Support your rationale with a minimum of two scholarly sources.
Topic 1 DQ 2
Identify a specific disease encountered in your clinical practice or personal life. Can your patient's understanding of DNA/RNA replication, transcription, and translation affect the management of the disease? Explain. Support your rationale with a minimum of two scholarly sources.
Topic 2 DQ 1
Identify a complex inheritance health issue you encountered in my clinical practice or personal life. How would you approach working with a patient of a complex inheritance health issue? Explain. Support your rationale with a minimum of two scholarly sources.
Topic 2 DQ2
Refer to the complex inheritance health issue identified in DQ 1. Given available genetic tests, which would you use to screen and diagnose this issue? How can the doctoral-prepared nurse apply this information in practice? Explain. Support your rationale with a minimum of two scholarly sources.
General Requirements:
Use the following information to ensure successful completion of the assignment:
• This assignment uses a rubric. Please review the rubric prior to beginning the assignment to become familiar with the expectations for successful completion.
• Doctoral learners are required to use APA style for their writing assignments. The APA Style Guide is located in the Student Success Center.
• This assignment requires that at least two additional scholarly research sources related to this topic and at least one in-text citation for each source be included.
• You are required to submit this assignment to LopesWrite. A link to the LopesWrite technical support articles is located in Course Materials if you need assistance.
Directions:
For this assignment (Part 2 of the Case Study), write a paper (1,100 words) incorporating genetics information learned from assigned readings in Topics 1-3. Include the following:
1. Describe if chromosomal analysis is/was indicated.
2. Detail the causes of the disorder.
3. Describe the disorder in terms of its origin as either a single gene inheritance or as a complex inheritance and considerations for practice and patient education.
4. Analyze the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs.

Research Paper Sample Content Preview:
  Pancreatic Cystic Fibrosis (CF): Case Study
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Pancreatic Cystic Fibrosis (CF): Case Study
Pancreatic Cystic Fibrosis (CF) or mucoviscidosis is an inherited disease that leads to premature deaths and causes severe complications (Rowe et al., 2017). Symptoms vary according to the patient's age, but the classic triad is usually present: salty sweat, respiratory, and gastrointestinal complications. The symptoms are not the same in all patients, and the clinical course of the disease can vary significantly (Rowe et al., 2017).
As it is an autosomal recessive disease, the chance of a carrier couple having a child with CF is 25% in each conception (Rowe et al., 2017). It is the most common hereditary disease in Caucasian children (1: 2,500 live births) (Farrell et al., 2017). Despite being an incurable disease, early diagnosis, combined with the therapeutic advances achieved in the last decades, significantly increases the life expectancy of patients (Farrell et al., 2017). In the United States, life expectancy reached 36.5 years in 2005 (Farrell et al., 2017).
Treatment and the natural course of the disease result in challenging experiences for patients (Bell et al., 2020). Elective or emergency hospital admissions for antibiotic treatment, respiratory physiotherapy, and a high-calorie diet, complemented by ingestion of digestive enzymes at every meal, are part of the treatment. An alternative treatment for patients in advanced stages of the disease is lung transplantation, and hope for a cure lies in gene therapy (Bell et al., 2020).
The restrictions caused by the disease, coupled with the decrease in life expectancy, have a devastating effect on the patient and the family, affecting emotional and financial aspects (Bell et al., 2020). Despite this, there are relatively few studies on the impact of CF-related experiences on the development of affected people.
The Dynamics Of Acceptance
The acceptance processes in relation to the diagnosis of adult patients involve the suffering of facing the reality of daily treatment, the uncertainties with regard to the conciliation of treatment with work, and the fear of prejudice (Bell et al., 2020). The difficulty in accepting the condition seems to be the justification for the feeling referred by the patients that, perhaps, it would be better if they did not know about the diagnosis. Relatives also feel this desire for ignorance at times (Bell et al., 2020). Some may even prefer to stay without the knowledge of their statuses than endure the stress.
Psychological Connections of CF
Growing up and developing with CF is a specific experience for each individual, containing peculiarities that translate into multiple ways of adapting and dealing with the disease. Aspects such as the severity of the disease, the unpredictable character of CF, its interference with normal developmental functions, family cohesion, the link with the medical team, and demographic variables have already been considered important factors for understanding the scope of CF in the patient's life (Bell et al., 2020). The present study results emphasize the importance of identifying the individual meaning of the disease for each patient and their famil...
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