Cystic Fibrosis Case Study Essay
Order ID: 89JHGSJE83839 Style: APA/MLA/Harvard/Chicago Pages: 5-10 Instructions:
In scenario 2 provided, the mother presented her 6- month old child, and upon diagnosis, it is discovered that the baby has cystic fibrosis. Cystic fibrosis is a genetic disease that affects the lungs and the digestive system. The defective gene that is primarily responsible for this condition leads to thicker and stickier mucus.
Cystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Genetics play a vital role in causing Cystic fibrosis as it occurs when one has an inherited condition in which one gene is defective from both of their parents (Férec & Scotet, 2020).
The child presented various symptoms, which include swollen belly and tasting salty. The swollen stomach can be significantly attributed to insufficient pancreatic enzymes due to the inflamed and blocked pancreas; this results in late gastric emptying and slow gut transit. On the other hand, the baby tasted salty because of the problem associated with the transportation of chloride across the cell membrane leading to the possibility of higher levels of chloride (as salt) in sweat (Farrell et al.,2017).
The infant experiences discomfort after eating, and inadequate weight occurs due to the enzymes in the digestive system. Mucus becomes sticky, blocking the ducts in the pancreas preventing the enzymes from reaching the small intestines to digest food (Farrell et al.,2017). The undigested food in the intestines can cause pain, cramping, gas, and either loose, greasy, floating stools or constipation and blockages.
The cells involved in this process are the epithelial cells. The condition affects the secretory glands making mucus and sweat glands disrupt the normal functioning of epithelial cells since they make up the sweat glands in the skin and lining the passageways inside the lungs, liver, pancreas, and digestive systems.
Race and ethnicity are some of the characteristics that affect the prevalence of Cystic fibrosis. Some reports evidenced CF prevalence differs depending on ethnicity. For instance, the incidence in Native Americans, whites, and black individuals is 37.2, 38.8, and 17.1 per 100,000, respectively (Paz-y-Miño et al.,2020).
It is important to note that the mothers concern for reproduction is valid and considered a risk factor. It is the case since the mother is a carrier of the cystic fibrosis gene.Please Note
APA format.
At least 2 references not more than 5 Years
More than 100 words excluding referencesCystic Fibrosis Case Study Essay
RUBRIC
Excellent Quality
95-100%
Introduction 45-41 points
The background and significance of the problem and a clear statement of the research purpose is provided. The search history is mentioned.
Literature Support
91-84 points
The background and significance of the problem and a clear statement of the research purpose is provided. The search history is mentioned.
Methodology
58-53 points
Content is well-organized with headings for each slide and bulleted lists to group related material as needed. Use of font, color, graphics, effects, etc. to enhance readability and presentation content is excellent. Length requirements of 10 slides/pages or less is met.
Average Score
50-85%
40-38 points
More depth/detail for the background and significance is needed, or the research detail is not clear. No search history information is provided.
83-76 points
Review of relevant theoretical literature is evident, but there is little integration of studies into concepts related to problem. Review is partially focused and organized. Supporting and opposing research are included. Summary of information presented is included. Conclusion may not contain a biblical integration.
52-49 points
Content is somewhat organized, but no structure is apparent. The use of font, color, graphics, effects, etc. is occasionally detracting to the presentation content. Length requirements may not be met.
Poor Quality
0-45%
37-1 points
The background and/or significance are missing. No search history information is provided.
75-1 points
Review of relevant theoretical literature is evident, but there is no integration of studies into concepts related to problem. Review is partially focused and organized. Supporting and opposing research are not included in the summary of information presented. Conclusion does not contain a biblical integration.
48-1 points
There is no clear or logical organizational structure. No logical sequence is apparent. The use of font, color, graphics, effects etc. is often detracting to the presentation content. Length requirements may not be met
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Cystic Fibrosis Case Study Essay