What gene mutation is associated with cystic fibrosis? How does this affect mucus production?

BIOS 256 Case Study 7

A 2-week-old has an abnormality on her universal newborn screening lab test that indicates she may have cystic fibrosis.

She is currently doing well. Her parents report that in the hospital she did not pass her first bowel movement until the 3rd day of life and that the staff was concerned about that.

Her parents have noted that she “tastes salty” when they kiss her.

Physical:

Appears healthy with good growth.

Labs:

Sweat chloride and genetic testing for cystic fibrosis ordered.

Assessment: Cystic fibrosis

Deliverables

Answer the following questions based on the scenario and article above and save your responses in a Microsoft Word document.

Provide a scholarly resource in APA format to support your answers.

Define genotype.

Define phenotype.

What gene mutation is associated with cystic fibrosis? How does this affect mucus production?

How is cystic fibrosis inherited?

Describe 3 problems that a patient with cystic fibrosis may have-choose 1 problem from 3 different body systems.

Explain the importance of incorporating credible evidence into an EBP model used to address a quality or safety issue, or a chosen diagnosis.

Determining the credibility of Evidence and Resources

Develop a 2-3 page scholarly paper in which you describe a quality or safety issue, or a chosen diagnosis( Cystic fibrosis), and then identify and analyze credible evidence that could be used as the basis for applying EBP to the issue.

1. : Analyze the relevance and potential effectiveness of evidence when making a decision.

Explain criteria that should be considered when determining credibility of resources such as journal articles and websites.

Analyze the credibility and relevance of evidence and resources within the context of a quality or safety issue, or a chosen diagnosis

2 : Apply an evidence-based practice model to address a practice issue.

Explain the importance of incorporating credible evidence into an EBP model used to address a quality or safety issue, or a chosen diagnosis.

3: Plan care based on the best available evidence.

Describe a quality or safety issue, or a chosen diagnosis, that could benefit from an evidence-based approach.
References should be no more than 5 years old.