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Pages:
3 pages/≈825 words
Sources:
Check Instructions
Style:
APA
Subject:
Health, Medicine, Nursing
Type:
Research Paper
Language:
English (U.S.)
Document:
MS Word
Date:
Total cost:
$ 18.79
Topic:

Diagnosis of Cystic Fibrosis and The Role of Family and Money in Healthcare

Research Paper Instructions:

You will be creating a case study in stages over four course topics. 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 in which you practice 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 1 of the Case Study), write a paper (825 words) incorporating genetics information learned from assigned readings in Topics 1 and 2. Include the following:
1. Description of the disease, its prevalence, and its incidence.
2. Discussion of laboratory testing that is possible.
3. Guidelines and reasons behind the FDA regulations for introducing new pharmaceutical agents (policy).
4. The role that money and grants play in scientific advances; the economics of health care (capitalism).
5. The role and involvement family plays in the health care decision.

Research Paper Sample Content Preview:

Case Study
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Case Study
Various health conditions that may cause long-term effects on patients exist. Some of the conditions are likely to shorten the victims’ lifespan and may also be life-threatening. It is also notable that some of such conditions may be genetic and, therefore, passed on from one generation to another (Bell et al., 2020). Various approaches to dealing with the conditions exist, but they might often be labor and cost- intensive. This paper examines Cystic Fibrosis (CF) and its diagnosis. The paper highlights some of the main diagnostic approaches for detecting the condition. The paper also highlights some of the reasons behind the FDA changing its pharmaceuticals agents’ policies. Also highlighted in the paper are the roles of money in scientific healthcare research.
Cystic fibrosis
Cystic fibrosis is an autosomal-recessive disorder. The condition is hereditary and it usually leads to an abnormal secretion of mucus in the lungs and pancreas (Bell et al., 2020). The secretion may also occur in other vital organs, and may cause poor functioning within the exocrine glands. The condition also leads to a chronic infection of the airway. Cystic fibrosis usually occurs in the sweat and mucus glands. Notably, cystic fibrosis is a condition that attacks multiple organs, particularly the ones with high mucus concentrations. The resulting effect is blockage of vital passageways such as the alveoli in the lungs (Bell et al., 2020). The condition may precede breathing difficulties and consequent chronic lung infections. The condition is mostly common amongst Caucasians with an estimated tally of close to ten million carriers (Bell et al., 2020). The patients’ registry wing of the Cystic Fibrosis Foundation in the United States estimates that there are close to 30,000 people in the nation living with the condition. The figures also report that there are close to 1000 diagnoses each year and that 75% of all the cases are usually diagnosed by the age of two (Bell et al., 2020). The diagnosis often involves a sweat test. More than 50% of the individuals living with the condition are aged 18 years and above. The average life expectancy for CF patients is pegged at 32, and the condition is usually incurable life-threatening (Bell et al., 2020).
Diagnosis of Cystic Fibrosis
The diagnosis of FF is usually a procedural venture that involves sweat chloride testing, genetic/carrier testing, and clinical evaluation. The sweat chloride test involves measuring chloride concentrations in sweat excretions. Defects in the chloride channels are responsible for elevated levels of chloride concentrations in sweat. Gene mutation panel testing may also help in determining the existence of CF in a child or individual. Positive outcomes usually undergo repetitive testing to ascertain CF presence in individuals, given that it is a rare condition affecting about 70,000 individuals globally. Upon the conclusion of either both or one of the two tests, clinical evaluations become essential to further determine the positive outcomes for CF. It is also important to note that certain cases are likely to go unnotic...
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