N512-19A Module One: Genetic Disease and Neoplasia Assignment

N512-19A Module One: Genetic Disease and Neoplasia Assignment N512-19A Module One: Genetic Disease and Neoplasia Assignment 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. Permalink: https://nursingpaperessays.com/ n512-19a-module-…lasia-assignment / Please use the following headings/subheadings as a guide to draft your paper: Introduction (including a brief purpose statement) Identify the genetic mutation responsible for fragile X-associated mental retardation. Describe and discuss how it causes the clinical syndrome of developmental delay, joint hyperextensibility, large testes, and facial abnormalities. Identify which parent is the probable carrier of the genetic mutation? Explain why this parent and the grandparents are phenotypically unaffected. 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 Criteria 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. N512-19A Module One: Genetic Disease and Neoplasia Assignment 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+). /60 Criteria 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 Criteria 10 Points 8 Points 7 Points 6 Points Earned Points Organization 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 (N512-19A Module One: Genetic Disease and Neoplasia Assignment) 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 1 Solution Approach Cervical dysplasia is defined as the abnormal growth of cells on the cervix, and can lead to cervical cancer if growth continues (Cervical intraepithelial neoplasia, 2020). Human papilloma virus is the primary cause for cervical cancer, however not every strand of the virus will lead to cervical cancer (Cervical intraepithelial neoplasia, 2020) HPV-16 is the strand that is found to cause more than half of all cervical cancers (Osmosis, 2019). N512-19A Module One: Genetic Disease and Neoplasia Assignment In normal cervix, mature cells stay in the Growth 1(G1) phase of the cell cycle, where cells undergo normal functioning properties (Osmosis, 2019). When new cells are needed they will exit the G1 phase, and continue through the rest of the cell cycle to create new normal daughter cells (Osmosis, 2019). With cervical dysplasia, cells go through the cell reproduction phase faster than the body needs new cells (Osmosis, 2019). So in turn the uncontrolled growth of cells is when the dysplasia happens and cervical cancer develops from these precancerous cells (Osmosis, 2019). At the cellular level dysplasia of the cervix originates at the basal layer of the transformation zone in the cervix (Osmosis, 2019). HPV inserts itself into the the immature squamous cells, and makes a copy of itself into the DNA of the host cell (Osmosis, 2019). Once the HPV is in the host cell it makes proteins that are responsible for pushing mature squamous cells through the cell replication cycle by blocking the beneficial action of tumor suppressor genes (Osmosis, 2019). The outcome is uncontrolled replication of cervical cells that are resistant to the normal cell death process (Osmosis, 2019). The different grades of cervical dysplasia are directly related to how much of the cervical epithelium is involved (Osmosis, 2019). With low grade cervical dysplasia, the lower one third of the epithelium affected, and with Carcinoma IN SITU, the full thickness of the epithelium is affected (Osmosis, 2019). Therefore, the higher the grade of dysplasia, the higher likelihood of cervical cancer to develop (Osmosis, 2019). The prognosis for S.V is favorable. Many women actually have dysplasia in their cervical cells, with no complications. (Cervical intraepithelial neoplasia, 2020) The body’s normal defense mechanism is to fight the virus, and with low grade cervical dysplasia there is a higher chance for abnormal cells to transform into normal cells again. (Cervical intraepithelial neoplasia, 2020). There is no recommendation for treatment for low grade cervical dysplasia if it is fewer than 2 years, however follow up testing is recommended (Cervical intraepithelial neoplasia, 2020). Osmosis. (2019, September 4). Cervical Cancer and intraepithelial neoplasia-causes, symptoms, diagnosis, treatment, pathology[Video].YouTube https://www.youtube.com/watch?v=5KEAnfLj1pE&t=305s Cervical intraepithelial neoplasia. (2020). In Wikipedia.org. Retrieved from https://en.wikipedia.org/wiki/Cervical_intraepithelial_neoplasia 455 words Hi Sofia, Thanks for your post. Patients getting information regarding their Pap smear results will feel anxious if they are informed that they have dysplasia, even low-grade, as they may not understand what it really means. How would you alleviate your patient’s concerns regarding her results? -Dr. Reynaldo 48 words Permalink Show parent Re: S. K Discussion #1 by S. K – Thursday, July 23, 2020, 8:42 AM Hello Dr. Reynaldo, I agree that patients receiving a diagnosis of cervical dysplasia can can cause anxiety, because they do not fully understand the diagnosis. As a Nurse practitioner I would help alleviate the patients anxiety by giving the patient factual information regarding this diagnosis. In low grade cervical dysplasia cells are slightly abnormal, the risk of low grade cervical dysplasia developing into cancer is less than one percent, and many times the abnormal cells will resolve on its own (Goodman, 2019). I would also advise the patient the importance of maintaining recommendations for follow up. Goodman, Annekathryn. Patient education: Follow-up of low grade abnormal Pap tests. (2019). Up to Date. https://www.uptodate.com/contents/follow-up-of-low-grade-abnormal-pap-tests-beyond-the-basics/print 118 words N512-19A Module One: Genetic Disease and Neoplasia Assignment Get a 10 % discount on an order above $ 100 Use the following coupon code : NURSING10