Explain how the genetic defect alters normal physiology

Explain how the genetic defect alters normal physiology

Discussion: Manifestations Treatment Options.

Nurses assist patients in their pain experience. The pain experience is dependent on many variables, such as age, culture, past experience, duration, and intensity. Although the experience of pain is subjective, nurses choose appropriate pain scales to quantify severity. Pain management is best accomplished by working closely with the health care team and in collaboration with the patient. The Joint Commission (2018) has revised pain assessment and management standards, requiring hospitals to have policies that engage patients in treatment decisions and include at least one non-pharmacological pain treatment modality.

Genetics Paper

Purpose: To provide an opportunity to explore the genetic transmission and resulting pathophysiology of a specific disease/disorder of interest to the Advanced Practice Nurse student.

General Guidelines: Select a disorder/disease state that is a result of a genetic alteration. This is a formal paper, formatted and referenced per APA guidelines. The paper should be no more than 3 pages (excluding title page and references). Content that exceeds the 3 page limit will not be graded.

Include a minimum of 3 references – the McCance & Huether text is a starting point and is NOT included in the 3 references and may not be included in citations. You may not use direct quotes.

The paper should reflect your synthesis and understanding of the information. References should be dated within the previous 5 years. Papers submitted after the due date will not be accepted for grading or feedback and will receive a grade of zero.

The information below indicates the areas of content expected to be included in the paper.

Guidelines/Grading Criteria

I. State why the specific genetic disorder was chosen for the paper. **Please note that in this section use of a personal pronoun is acceptable to state why the topic was selected.** (5 pts)

II. Describe the genetic disease/disorder, including incidence/prevalence across genders and ethnic groups, and specific populations/ages at risk/affected. Include the specific gene/locus affected, patterns of transmission (e.g. parent to child; affected individual to their children), and risk of transmission each pregnancy. (20 pts)

III. Explain how the genetic defect alters normal physiology and ho

V. List 3 specific teaching points to provide a patient/family regarding the genetics of the disease/alteration (may use bullet points for this content). May include genetic transmission, counseling, specific resources available, life expectancy, etc. Does not include manifestations, therapy, treatment options. (15 pts)

VI. Present information in a scholarly manner (clear, grammatically correct) and reflect synthesis of information from sources. Includes UTA title page. Use APA format for headings, citations and references. Conforms to 3 page length. (15 pts).

You must proofread your paper. But do not strictly rely on your computer’s spell-checker and grammar-checker; failure to do so indicates a lack of effort on your part and you can expect your grade to suffer accordingly. Papers with numerous misspelled words and grammatical mistakes will be penalized. Read over your paper – in silence and then aloud – before handing it in and make corrections as necessary. Often it is advantageous to have a friend proofread your paper for obvious errors. Handwritten corrections are preferable to uncorrected mistakes.

Use a standard 10 to 12 point (10 to 12 characters per inch) typeface. Smaller or compressed type and papers with small margins or single-spacing are hard to read. It is better to let your essay run over the recommended number of pages than to try to compress it into fewer pages.

Likewise, large type, large margins, large indentations, triple-spacing, increased leading (space between lines), increased kerning (space between letters), and any other such attempts at “padding” to increase the length of a paper are unacceptable, wasteful of trees, and will not fool your professor.

The paper must be neatly formatted, double-spaced with a one-inch margin on the top, bottom, and sides of each page. When submitting hard copy, be sure to use white paper and print out using dark ink. If it is hard to read your essay, it will also be hard to follow your argument.