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Pages:
4 pages/β‰ˆ1100 words
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Check Instructions
Style:
APA
Subject:
Health, Medicine, Nursing
Type:
Research Paper
Language:
English (U.S.)
Document:
MS Word
Date:
Total cost:
$ 25.06
Topic:

Genetics and Cystic Fibrosis

Research Paper Instructions:

Case Study: Part 3
You will be creating a case study in stages over four course topics. This assignment will add to your previous work in Topic 3. Use an example from your own personal practice, experience, or 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.
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 3 of the Case Study), write a paper (1,100 words) incorporating genetics information learned from assigned readings in Topics 1-5. Include the following:
This all the topics study please read as resources
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 your 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 DQ 2
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.
Topic 3 DQ 1
A multigenerational family health history can facilitate the management of a patient's disease. What model would you use to create a multigenerational family health history for a patient? Explain. Support your rationale with a minimum of two scholarly sources.
Topic 3 DQ 2
Why is it important to have a comprehensive health and physical assessment that includes information on environment and genomic influences? How can the doctoral-prepared nurse apply this information in practice? Explain. Support your rationale with a minimum of two scholarly sources.
Topic 4 DQ 1
In the past decade there have been many advances in genetics and genomics and their application to health screening, diagnosis, treatment, and prognosis. What recent advancement do you believe is the most significant for your clinical practice? Explain. Support your rationale with a minimum of two scholarly sources.
Topic 4 DQ 2
Genetic/Genomic factors are known to contribute to variability of pharmacologic responses in some patients. How does the variability of responses result in tailoring pharmacologic agents to the care of these patients? Explain. Support your rationale with a minimum of two scholarly sources.
Topic 5 DQ 1
Health issues in a clinical setting can be influenced by nutrition. Identify a health issue that has been positively influenced by nutrition in your clinic. How does nutrition improve health? How can the doctoral-prepared nurse apply this information in practice? Explain. Support your rationale with a minimum of two scholarly sources.
Topic 5 DQ 2
Choose one disorder of malnutrition that is found in your clinical setting or community. What are the genetic and environmental influences on this disorder, including prevalence rates, testing, treatment, and prognosis? How can the doctoral-prepared nurse apply this information into practice? Explain. Support your rationale with a minimum of two scholarly sources.
1. Examine how genetics can influence policy issues.
2. Discuss any nutritional influences for the cause of this disease.
3. Discuss the process of nutritional assessment and counseling as it relates to health, prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness.
4. Discuss the prevalence rates, testing, treatment, and prognosis as they relate to human nutrition.

Research Paper Sample Content Preview:

Case Study Part 3
Name Affiiation
Professor
Date
Background
Cystic fibrosis is a genetic condition, and newborn screening is one of the measures to identify the disease The appearance of signs and symptoms will depend on the severity of CF. In some patients, symptoms during adolescence or adulthood. The first symptoms of cystic fibrosis at a young age are mostly stunted growth, poor lung function, abnormally salty sweat, and there is also be weight loss and inadequate fat absorption. Genetic testing helps identify the risk of developing CF, but not does determine whether the symptoms that will present and whether there will be mild or severe.
Genetics and Policy Issues
Cystic fibrosis is a hereditary disease that usually affects the respiratory system sweat glands and pancreas usually begins in childhood and is characterized by the presence of chronic respiratory infections, pancreatic failure, and issues with the liver and spleen The condition is one most common of the fatal hereditary diseases among whites and cystic fibrosis is due to mutations in the CFTR gene, located on chromosome 7. This gene encodes the cystic fibrosis regulatory factor, and this is a protein that acts at the membrane level in the chlorine-ion exchange mechanism. It is inherited in an autosomal recessive manner. Each offspring of two carrier parents has a 25% probability of being affected, a 50% probability of being an asymptomatic carrier, and a 25% probability of being a healthy non-carrier. Multiple-CFTR-mutation testing improves screening prediction to identify mutations and risk of CF
There is a high frequency of carriers in the population and screenings are necessary to determine whether the potential parents carry CFTR gene mutation. Genetic testing for cystic fibrosis and genetic counseling are two issues that may influence policy changes to prevent and manage cystic fibrosis. There is increased support for the use of genetic testing to predict some detectable diseases of hereditary origin. Policies promoting genetic testing would focus on improving diagnosis to reveal the risk of developing the disease. There would be more follow-ups based on prediction and combined with personalized health to improve the health outcomes.
Nutritional Influences
Improvement in nutritional treatment improves health outcomes and normal nutritional status is associated with better lung function in patients with CF while malnutrition is associated with worsening health outcomes. The deterioration in pancreatic and lung functions is a concern, but nutrition helps. Health care practitioners consider each person’s case to promote and improve better quality of life. Comprehensive management of the patients included nutritional and management to ensure they are healthy. 
 A balanced low-fat diet and enzyme supplements are helpful to achieve low steatorrhea there is a higher risk of lipid malabsorption and pancreatic insufficiency in patients with cystic fibrosis (CF) (Freedman et al., 2017). There is also an increased risk of developing malnutrition because of negative energy balances, and it is recommended that their usual intake for people with CF be slightly higher than the calories recommended for healthy people of t...
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