N512 Advanced Pathophysiology Assignment 1

N512 Advanced Pathophysiology Assignment 1

N512 Advanced Pathophysiology Assignment 1

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The purpose of this paper is to address the following clinical scenario with the use of your textbook, external credible literature, and/or reliable electronic sources. Use the guide below to draft your paper and review the rubric to ensure you have met the assignment criteria. The expected length of the paper is approximately 4-5 pages, which does not include the cover page and reference page(s). N512 Advanced Pathophysiology Assignment 1

Lisa Anderson, a 22 y.o., Caucasian single parent, is referred for genetic counseling by her pediatric Nurse Practitioner. She has a 3-year-old boy with developmental delay and small joint hyperextensibility. The pediatric Nurse Practitioner has diagnosed fragile X-associated mental retardation. She is currently pregnant with her second child at 14 weeks of gestation. The family history is unremarkable.

Please use the following headings/subheadings as a guide to draft your paper:

  1. Introduction (including a brief purpose statement)
  2. Identify the genetic mutation responsible for fragile X-associated mental retardation.
  3. Describe and discuss how it causes the clinical syndrome of developmental delay, joint hyperextensibility, large testes, and facial abnormalities.
  4. Identify which parent is the probable carrier of the genetic mutation?
  5. Explain why this parent and the grandparents are phenotypically unaffected.
  6. Discuss the likelihood that the unborn child will be affected?

VII. Conclusion

In regards to APA format, please use the following as a guide:

  • Include a cover page and running head (this is not part of the 4-5 page limit)
  • Include transitions in your paper (i.e. headings or subheadings)
  • Use in-text references throughout the paper
  • Use double space, 12 point Times New Roman font
  • Spelling, grammar, and organization are appropriate
  • Include a reference list (this is not part of the 4-5 page limit)
  • Attempt to use primary sources only. That said, you may cite reliable electronic sources (i.e. ANA)

Assignment 1 Rubric – N512 Advanced Pathophysiology Assignment 1


60 Points

55 Points

50  Points

40 Points

Earned Points

Content: Application & Analysis

Responds correctly and/or appropriately to all questions and criteria. Content is excellent. N512 Advanced Pathophysiology Assignment 1

Demonstrates a high level of critical thinking, shows significant insight or creative thought about the topic, and does not merely recite the text/resources. Uses concepts and terminology correctly.  Detail rich and specific.

Responds correctly and/or appropriately to all questions and criteria. Content is good.

Demonstrates some critical thinking throughout the paper and may also show some insight or creative thinking about the topic. Mostly uses concepts and terminology correctly (1-2 issues). Minor detail inconsistencies (1-2).

Responds correctly and/or appropriately to at least one question OR if only one question, partially responds to question. Does not address all criteria. Content is minimal.

Demonstrates at least one critical thinking skill in the paper.  Attempts to use concepts and terminology correctly.  Several detail inconsistencies (3-5).

Paper is unclear and does not address the questions and/or criteria. Content does not meet requirements. Many inconsistencies and conflicting information (6+).





20 Points

16 Points

14 Points

12 Points

Earned Points

Quality: Supporting Research & Sources

All work is accurately cited (where applicable) and appropriately supports content with research, text, multimedia, and/or other resources.  References are relevant and enhance the topic. Most of the work is accurately cited (where applicable) and adequately supports content with research, text, and/or resources.  One issue with reference or use of one inappropriate reference.  References are relevant to the topic. 2-3 issues with references, including the use of inappropriate references to support content. May fail to provide references to support content.  1-2 references are not relevant to the topic and/or distract from the topic at hand. 4 or more issues with references, including the use of inappropriate references to support content OR failure to include references (where applicable).  No supporting references are used OR they are used but 3+ references are not relevant to the topic. /20


10 Points

8 Points

7 Points

6 Points

Earned Points


Paper is well-organized. Ideas are clear and arranged logically. Transitions are smooth, no flaws in logic. Paper is organized. Ideas are usually clear and arranged in an acceptable sequence (1-2 issues). Transitions are usually smooth (1-2 issues), good support. N512 Advanced Pathophysiology Assignment 1 Paper lacks organization. There are many problems with the approach (3-5 issues with organization). Some difficulty understanding ideas.  Issues with support and transitions (3-5). Paper is poorly organized and difficult to understand. Many issues with support and transitions (6+). Ideas are arranged illogically and do not make sense.  /10

Accuracy & Basic Writing Mechanics

Error-free, including APA formatting, reflecting clear understanding of various forms of expression and careful editing. Very few (less than 3) errors in spelling, grammar, syntax, and/or punctuation. Very few (less than 3) issues with APA formatting. Occasional poor choice of word. 4-5 errors in spelling, grammar, syntax, and/or punctuation. 4-5 issues with APA Formatting. Writing may be difficult to understand at times. More than 5 errors in spelling, grammar, syntax, and/or punctuation.  Many (6+ issues with APA formatting.  Writing is difficult to understand in many instances.  /10


Discussion 1

See Van, a 35-year-old married Hmong-American woman recently underwent an annual Papanicolaou test (Pap smear) at her Certified Nurse Midwife’s practice, and the results were abnormal.  Her provider diagnosed her with low-grade cervical dysplasia.  What alterations at the cellular level would you expect to see with this diagnosis? Provide and discuss with your colleagues S. V.’s prognosis. Support your discussion with citations from the textbook, external credible literature and/or reliable electronic sources.

Remember to respond to at least two of your peers. Please refer to the Course Syllabus for Participation Guidelines & Grading Criteria.

Sample Discussion Response

When undergoing an annual pap smear test and being told that it was abnormal can be scary. As a family nurse practitioner one must be able to discuss the prognosis and treatments options for their patients during a scary time. However, it is also important to discuss with patients the importance of annual testing and especially with woman in child-bearing age. See Vans provider diagnosed her with low-grade cervical dysplasia at her annual pap smear screening. This is when there is abnormal cells that are found on the surface of ones cervix (Laughlin-Tommaso, 2020).  When a pap-smear is done there is a collection of cells from the squamocolumnar junction of the cervix (Laughlin-Tommaso, 2020).  When this is seen in cervical dysplasia squamous metaplasia causes the squamous cells to replace columnar cells (Cooper & McCathran, 2020). When this happens it allows for the entrance of human papillomavirus. Due to See Van only having low-grade cervical dysplasia treatment is not needed. When it comes to low-grade cervical dysplasia no treatment is needed, so given this See Vans prognosis is fair (Cooper & McCathran, 2020). However she should continue to get regular pap smears every year in order to follow up and ensure that the cervical dysplasia has not turned into a more aggressive form. Also given her ethnicity her chances of it turning into a more aggressive form is rare due to this condition being most common in Hispanic females. Sue Van also being married gives her a better prognosis because this helps to determine that she has only had one sex partner (Cooper & McCathran, 2020). However, it is still important for Sue Van to continue to been seen every year for her annual test to ensure her condition has not worsened. N512 Advanced Pathophysiology Assignment 1

Cooper DB, McCathran CE. Cervical Dysplasia. [Updated 2020 May 27]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK430859/

Laughlin-Tommaso. (2020, June 27). Cervical dysplasia: Is it cancer? Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/cervical-cancer/expert-answers/cervical-dysplasia/faq-20058142

338 words

In reply to CD

Re: Dean Discussion 1

by Lorri – 

Hi C,

Thanks for the informative post. I too think that S. V.’s prognosis is good; however, you can’t really make an assumption that she has had only one sex partner based on the fact that she’s married. We don’t know how many partners she’s had, or how many her husband has had in the past. I agree that she should be tested annually, but according to Cooper and McCathran (2020), patients with a low-grade squamous intraepithelial lesion (LSIL) should return once a year for co-testing for the following 2 years, which involves a repeat Pap smear with HPV molecular testing, as the majority of the lesions will regress on their own. If HPV remains positive at either of the next 2 annual follow up visits, the patient would be referred for colposcopy, and if all tests are negative at both the 1- and 2-year follow-up visits, return for retesting with HPV-based testing in 3 years is recommended (Perkins et al., 2019).
I think you make a great point that S. V. should be screened on a regular basis, and I would say that a more in-depth sexual history would also be necessary. The USPSTF (2020) currently recommends the utilization of other health screens such as HIV, and depending on whether she has an increased risk, syphilis, gonorrhea, and chlamydia screenings as well.

Cooper, D. B., & McCathran C. E. (2020). Cervical Dysplasia. Treasure Island, FL: StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK430859/

Perkins, R. B., Guido, R. S., Castle, P. E., Chelmow, D., Einstein, M. H., Garcia, F., Huh, W. K., Kim, J. J., PhD, Moscicki, A. B., Nayar, R., Saraiya, M., Sawaya, G. F., Wentzensen, N., & Schiffman, M. (2020) 2019 ASCCP risk-based management consensus guidelines for abnormal cervical cancer screening tests and cancer precursors. Journal of Lower Genital Tract Disease, 24(2), 102-131. https://doi:10.1097/LGT.0000000000000525

U.S. Preventive Services Task Force., & United States. (2017). U.S. Preventive Services Task Force (USPSTF). Rockville, MD: U.S. Dept. of Health & Human Services, Agency for Healthcare Research and Quality. https://www.ahrq.gov/prevention/guidelines/guide/section1.html. N512 Advanced Pathophysiology Assignment 1