N512 Advanced Pathophysiology Assignment 1

N512 Advanced Pathophysiology Assignment 1

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).

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.

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. 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 Approach

In women, anatomically, the cervix is the lower part of the uterus where it meets the vagina. When healthy cells in the cervix undergo abnormal changes, it is called cervical dysplasia (Cooper, D. & McCathran, C., 2020). Contracting human papillovirus (HPV), a type of sexually transmitted infection (STI), is the most common reason why these changes happen and may be seen through a Papanicolaou (Pap) smear test. Many times, it goes away within 8 months to 2 years from exposure, however, it is considered a precursor to cervical cancer if left unmonitored and untreated. (Cooper, D. & McCathran, C., 2020).

Low-grade cervical dysplasia, or squamous intraepithelial lesion (LSIL), is categorized under CIN 1 or mild dysplasia, it usually does not need any treatment other than close monitoring which includes annual pap smear with HPV testing (Cooper, D. & McCathran, C., 2020). According to National Cancer Institute (2019), for any abnormal pap test results as well as HPV test, further testing and other treatments are needed such as a colposcopy.

It is an exam done by the provider that uses a colposcope to take a closer look into the cervix and obtain a tissue sample for biopsy (National Cancer Institute, 2019). This is also very important especially if the patient has a strong family history of cancer. Nonetheless, S.V.’s prognosis is fairly good provided that it is being closely monitored. Procedures such as a cold knife conization, cryotherapy, laser therapy or loop electrosurgical excision procedure (LEEP), may all be considered in the future if needed (National Cancer Institute, 2019).

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

National Cancer Institute (2019). Understanding Cervical Changes: Next Steps After an Abnormal Screening Testhttps://www.cancer.gov/types/cervical/understanding-cervical-changes#6

301 words

In reply to M. E.

N512 Advanced Pathophysiology Assignment 1 Re: PE discussion 1

by Faye – 

Hi Maria,

Thanks for your post. As you’ve stated our patient does not need treatment at this time. The guidelines related to cervical dysplasia state that patients with CIN I (also known LSIL) should undergo co-testing after 12 months. Co-testing will include: a repeat Pap smear for cervical cytology and a high-risk HPV test (Levine, n.d.). High-risk HPV testing determines whether there is presence of the human papillomavirus, especially for the genotype that are at high risk for development of genital warts, cervical dysplasia, or cervical cancer (Mayo Clinic, 2020). This is only available in women and is recommended if one is 30 years or older (Mayo Clinic, 2020).

N512 Advanced Pathophysiology Assignment 1 References:

Levine, E.M. (n.d.). Management of cervical intraepithelial neoplasia (CIN) and adenocarcinoma in situ (AIS). Dynamed Plus. https://www.dynamed.com/management/management-of-cervical-intraepithelial-neoplasia-cin-and-adenocarcinoma-in-situ-ais#CIN_1

Mayo Clinic. (2020). HPV test. https://www.mayoclinic.org/tests-procedures/hpv-test/about/pac-20394355

150 words

In reply to Faye

N512 Advanced Pathophysiology Assignment 1 Re: PE discussion 1

by Maria  – 

high-risk HPV testing is important and goes hand in hand with pap smear tests. There are over 40 types of HPV that can infect the genitals and is commonly acquired in sexually active late teens to early 20’s. Although most go away on their own, some may cause cervical cancer (Center for Disease Control and Prevention {CDC}, 2016). HPV vaccination is recommended for 11-12 years old to get 2 doses of HPV vaccine to prevent from getting cancer caused by the virus. It is also recommended by CDC got girls to get vaccinated before they become sexually active to fully utilize the benefit (CDC, 2016).

Center for Disease Control and Prevention. (2016). HPV Vaccine Information for Young Women. https://www.cdc.gov/std/hpv/stdfact-hpv-vaccine-young-women.htm

I re-submitted my post for Turnitin purposes 🙂