12- Advanced Pathophysiology

N512- Advanced Pathophysiology Module 1 Overview

Introduction

In this module students will learn about the pathophysiology of genetic disease and neoplasia. Emphasis will be placed on students’ mastery of the mechanisms of mutation, inheritance patterns, and prevalence of genetic disease, and on the molecular and biochemical bases of neoplasia.

Learning Objectives

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After completing this module, you will be able to:

  • Explore key concepts related to the genetic basis of disease
  • Examine the spectrum of pathophysiologic characteristics of infectious diseases
  • Explain the pathophysiological alterations noted in neoplastic developments
  • N512- Advanced Pathophysiology

Reading & Resources

Read Chapters 2, 4 & 5 In Hammer, G. & McPhee, S. (2019). Pathophysiology of disease: An introduction to clinical medicine (8th ed.). New York, NY: McGraw-Hill Education / Medical

Visit Learn.Genetics.Utah.edu to learn more about genetic imprinting.

Optional Reading:

Kruyer, H., Milla, M., Carbonell, P., Ballesta, F., & Estivill, X. (1994). Fragile X syndrome and the (CGG)n mutation: Two families with discordant MZ twins. American Journal of Human Genetics, 54(3), 437-442. (this is a classical study) N512- Advanced Pathophysiology

Activities

  • Introductions: Introduce yourself in the Introductions forum.
  • Discussion: Participate in Discussion 1. N512- Advanced Pathophysiology
  • Assignment: Complete & Submit Assignment 1. Click on the Assignment 1 link for more details.
  • Review: Review the Final Project details by clicking on the Final Project link at the top of the course in the Course Documents section or in Module 8.

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. N512- Advanced Pathophysiology 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.

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) N512- Advanced Pathophysiology.

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 N512- Advanced Pathophysiology.

 

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. N512- Advanced Pathophysiology
  6. Explain why this parent and the grandparents are phenotypically unaffected.
  7. 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
  • N512- Advanced Pathophysiology
  • 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.

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+). N512- Advanced Pathophysiology 

 

 

/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 N512- Advanced Pathophysiology

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. N512- Advanced Pathophysiology 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 N512- Advanced Pathophysiology. 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.

 

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.  N512- Advanced Pathophysiology 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 N512- Advanced Pathophysiology.

The Hmong-American population has historically had a disparity with access to care.  Though in this case, it appears the SV is dialed into the healthcare system.  The cellular alterations most commonly associated with low-grade cervical dysplasia are due in large part to the junction of two different types of cellular tissue.  Human Papillomavirus is also a common cause of cervical dysplasia. N512- Advanced Pathophysiology The incidence of HPV is widely established to be a leading cause of low-grade cervical dysplasia and is associated with multiple sexual partners as well as early sexual activity.  The pap smear will show a squamous intraepithelial lesion of an LSIL.  There are over a hundred different strains of HPV.  The pap smear is a sample of cells from the squamocolumnar junction of the cervix where the columnar epithelium overlaps the smooth squamous epithelium.  junction area allows metaplasia that causes squamous cells to replace columnar cells. This transition point is often the site of dysplastic activity within the cells.  These changes are what often lead to cervical dysplasia N512- Advanced Pathophysiology.  HPV can attack the basal cells of the squamous epithelium of the cervix.  The DNA of the HPV replicates inside the host cell.  These changes are evident in a pathology evaluation of the cellular samples taken during the pap smear. (Cooper, 2020). The cells obtained during the pap smear will have an abnormal appearance on the pathology evaluation.

SV’s prognosis is a good one provided she is scrupulous with her designated follow up as additional pap smears may be required within 3-6 months.  Often, there is no treatment for the dysplasia except to follow them more closely and monitor frequent pap smears to see if there are signs of the cellular changes that can occur in neoplasia N512- Advanced Pathophysiology.  Provided SV continues to have access to care and follows the guidance of her midwife, her prognosis looks promising provided she continues to follow the guidance of her healthcare professional and continue to have per prescribed pap smears.

 

Fang, D. M., M.S.W., Lee, Serge,PhD., M.S.W., Stewart, S., PhD., Ly, M. Y., M.S.W., & Chen, Moon S, Jr,PhD., M.P.H. (2010). Factors associated with pap testing among hmong women. Journal of Health Care for the Poor and Underserved, 21(3), 839-50. Retrieved from http://americansentinel.idm.oclc.org/login? N512- Advanced Pathophysiology

 

Adunlin, G., Cyrus, J. W., Asare, M., & Sabik, L. M. (2019). Barriers and facilitators to breast and cervical cancer screening among immigrants in the united states.Journal of Immigrant and Minority Health, 21(3), 606-658. doi:http://dx.doi.org.americansentinel.idm.oclc.org/10.1007/s10903-018-0794-6

 

Shin-Young, L., & Lee, E. E. (2018). Cancer screening in koreans: A focus group approach. BMC Public Health, 18doi:http://dx.doi.org.americansentinel.idm.oclc.org/10.1186/s12889-018-5147-9 N512- Advanced Pathophysiology

 

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/

 

Cervical dysplasia is also known as cervical intraepithelial neoplasia.  It is a premalignant disorder that is characterized by abnormal growth of the epithelial lining of the cervix (Smith & Holle, 2018).  Cervical dysplasia affects 3600 out of 100,000 people each year and the peak incidence is at 26 years old (Smith & Holle, 2018) N512- Advanced Pathophysiology.  Human Papillomavirus (HPV) is a common cause of cervical dysplasia.  Risk factors that increase the risk of HPV include: an illness that suppresses the immune system, taking immunosuppressant drugs, having numerous sexual partners, giving birth prior to age 16, having sexual intercourse before the age of 18, and smoking cigarettes (Smith & Holle, 2018).  Cervical dysplasia is detected by a Pap smear test and based on the abnormalities of the cells ranges from mild to severe (Smith & Holle, 2018).  Cell dysplasia is defined as a decline to a less mature cell without a specific identity (Moasser & Weiyun, 2019). N512- Advanced Pathophysiology On See Van’s Pap smear one would expect to see these mentioned immature cells.  Most HPV infections and low-grade lesions will resolve on their own within 8 months (Smith & Holle, 2018).  Typically a person will have a follow up Pap test to see if the cells have changed.  If the results are concerning the doctor may recommend a colposcopy to identify suspicious areas for biopsy (Smith & Holle, 2018). See Van will need to follow up with her gynecologist for a follow up Pap smear to determine cellular changes.  If resolved she would be advised to practice safe sex including monogamy. If her cells have progressed she may need to undergo treatments like “cryotherapy, laser surgery, loop electrosurgical excision procedure (LEEP) surgical ablation, and surgical excision” (Smith & Holle, 2018).  Treatment of cervical dysplasia is found to be beneficial in 80-90% of cases (Smith & Holle, 2018).  SV has a good prognosis if she is compliant with follow up, testing, and recommendations from her gynecologist. N512- Advanced Pathophysiology

 

References

 

Mark M. Moasser, M., & Weiyun, Z. Ai, P. M. (2019). Neoplasia. In G. D. Hammer, & S. J. McPhee, Pathophysiology of Disease: An Introduction to Clinical Medicine (pp. 89-139). NewYork: McGraw-Hill Education.

 

Smith, N., Holle, M. (2018). Cervical Intraepithelial Neoplasia (Cervical Dysplasia) and Human Papillmavirus. Cinahl Information Systems. Retrieved from https://web-a-ebscohost-com.americansentinel.idm.oclc.org/nrc/pdf?vid=8&sid=9f1f73aa-e078-4144-a2e9-e416593a7a31%40sdc-v-sessmgr03

 

Module 2 Overview

Introduction

In this module students will review the normal anatomy and physiology of the heart and analyze the pathophysiology and clinical manifestations of selected cardiovascular disorders, including arrhythmias, congestive heart failure, valvular heart disease, and coronary artery disease N512- Advanced Pathophysiology.

Learning Objectives

After completing this module, you will be able to:

  • Review normal physiology of the cardiovascular system
  • Explain pathophysiological alterations in the cardiac cycle.
  • N512- Advanced Pathophysiology
  • Analyze the pathogenesis of alterations in heart function.
  • Summarize the major clinical manifestations and complications of alteration in heart functions

Reading & Resources

Read Chapters 10 In Hammer, G. & McPhee, S. (2019). Pathophysiology of disease: An introduction to clinical medicine (8th ed.). New York, NY: McGraw-Hill Education / Medical

Optional readings:

Lindsell, C. J., Anatharaman, V., Diercks, D., et al. (2006). The internet tracking registry of acute coronary syndrome: A multicenter registry of patients with suspicion of acute coronary syndromes reported using the standardized reporting guidelines for emergency department chest pain studies. Annals of Emergency Medicine, 48(6), 666-677 N512- Advanced Pathophysiology.

Ringstrom, E., & Freedman, J. (2006). Approach to undifferentiated chest pain in the emergency department: A review of recent medical literature and published practice guidelines. Mt. Sinai Journal of Medicine, 73(2), 499-505.

Learning Activities

  • Discussion: Participate in Discussion 2.

Discussion 2

Jackie Johnson, a 35 y.o. African-American, married female, advertising executive, presents to the emergency department with complaints of chest pain. The pain is described as 8 on a scale ranging from 1 to 10, retrosternal, and sharp in nature. It radiates to the back, is worse with taking a deep breath, and is improved by leaning forward N512- Advanced Pathophysiology. On review of systems, she has noted a “flulike illness” over the last several days, including fever, rhinorrhea, and cough. She has no medical history and is taking no medications. She denies tobacco, alcohol, or drug use. On physical examination, she appears in moderate distress from pain, with a blood pressure of 125/85 mm Hg, heart rate 105 bpm, respiratory rate 18/min, and oxygen saturation of 98% on room air. She is currently afebrile. Her head and neck examination is notable for clear mucus in the nasal passages and a mildly erythematous oropharynx. The neck is supple, with shotty anterior cervical lymphadenopathy. The chest is clear to auscultation. Jugular veins are not distended. Cardiac examination is tachycardic with a three-component high-pitched squeaking sound. Abdominal and extremity examinations are normal N512- Advanced Pathophysiology.

In this discussion:

  1. Provide and discuss this patient’s likely diagnosis with your colleagues. Why do you support this “likely” diagnosis?
  2. Discuss your differential diagnoses clinical reasoning. Why do you support this list of potential differential diagnoses?
  3. Provide and discuss what the most common causes of this disease are, and which is most likely in this patient?
  4. Identify the pathophysiologic mechanism for her chest pain N512- Advanced Pathophysiology.
  5. Develop a plan of care post-discharge based upon your recommendations living arrangements and social supports.

Support your discussion with citations from the external literature and your textbook.

Remember to respond to at least two of your peers. Please refer to the Course Syllabus for Participation Guidelines & Grading Criteria N512- Advanced Pathophysiology.

 

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