Advance Pathophysiology Across Lifespan
CASE 183N: 3 y/o with white pupil
This 3 year-old boy was in good health until his mother noticed a left white pupil (leukokoria) and took him to the clinic. The physical examination was unremarkable except for the leukokoria. The fundus could not be visualized. The pediatrician referred the child to an ophthalmologist.
Picture of the child:
1. What is leukokoria and in what conditions can it be seen?
The ophthalmologist aspirated fluid from the anterior chamber of the eye and sent it to the cytology laboratory for examination of cells.
Cytopathology report:?undifferentiated malignant cells
consistent with retinoblastoma
CT scan and MRI showed a massive filling the left globe and no evidence of involvement outside the globe.
The next day the patient was taken to surgery and the eye was removed. Sectioning the eye revealed a large tumor in the posterior chamber and retinal detachment. The tumor histologically was noted to be invading the optic nerve at the margin of section. Cytology of CSF fluid showed no malignant cells.
The patient was given local radiation and an eye prosthesis.
2. This is a small, round, blue cell tumor. List the other tumors of this nature and briefly define them? (including genetics).
3. Describe the pathology and natural history of a retinoblastoma.
4. Stage this tumor.
5. Predict the outcome of this case. How are these tumors treated?
6. What are the molecular genetics of this tumor and compare the molecular genetics of this tumor with cystic fibrosis and neuroblastoma.
7. Explain the double hit hypothesis.
B. Use 2 pages for the case study.
C. Find two articles that support the diagnosis and summarize the two articles in one page.
See case study instruction.
CASE STUDY INFORMATION
1) Choose your case studies from the group assigned for each Unit or Week Period. For example, for the first case study – needs to be from Unit 1 (or Week 1-3), so that the case you study about is in the system that you’ve been studying. For week 1-3, we study about sepsis, genetics and cell injury, so the cases for these weeks are in one of those areas. For Case Study #2, you pick one from the next area Unit 2 or Weeks 4-6 (covering GI, Cardiac or cancer). For Weeks 7-9, you pick a case from the Respiratory, Heme or Endocrine systems. Each case you do then, will be on a different system!
2) Format Issues: Please answer each question below the individual question (don’t combine the entire section into one large paragraph – it makes it harder for your grader to find the answers or what you planned to be your answer). It does not have to be in APA format, but your references should be typed in APA format. Also, include the TRACK of the CASE in your CASE TITLE….or KEEP the CASE NUMBER in YOUR TITLE of the Word document with your NAME. It lets us know right away which case you did for grading purposes. Don’t put #1 for case 1 and #2 for Case 2, and #3 for Case 3, etc. It’s important we know which type of case – NEONATAL or PEDIATRIC or ADULT that you do so we can assign a grader for the same cases.
3) For PEDIATRIC/NEONATAL CASES: The largest portion of your case study should be the embryology/physiology/patho section (since it is worth 30 pts…10 pts each section).
a. Initial SECTION: The information…from case and nurse in the first section (10 pts): For this section, you just restate the things in the case (risk factors) that would lead you to the diagnosis or one of the differential diagnoses. Then you ask the nurse some things…that would help you with the diagnosis. Don’t ask about things that do not apply or are NOT risk factors for your diagnoses. For example, for NEC, you may want to ask about the stools. But also don’t ask things about the exam –you would go and exam the infant and find out yourself. You can ask about previous exams yesterday, but don’t ask if the abdomen is red or tympanic…because you should not ask that, but see it on your exam when you go and examine the baby. I only want the info here that you would really ask the nurse at the bedside!
b. Embryology (10pts) : Yes, I really do want you to describe the embryology of the system (eg. for RDS, you’ll describe the development of the lungs; with NEC, you will discuss how the GI tract develops, so that I know you understand why a baby at 28 weeks would be at risk for NEC. The embryology of the system and where development is at the time of delivery is very important…so just remember to review the embryology. No embryology = Minus 10 (for neonatal cases only) – For Peds cases that do not ask for embryology, the pathophysiology section will be worth 20 points instead.
c. Patho of the Disorder (10pts): What happens that causes the disorder to occur? In the development? Or the external factors? What causes it (in your own words, so I know that you understand it). If you read about the patho in the couple articles you find – like in Neonatal Network or Journal of Perinatology or Pediatrics – having read about it a couple times, then you should start having an idea of how it occurs and why this baby has it. So describe the pathophysiology or cause of the disorder. Explain it step by step – even if we don’t know the exact cause, but we know that “there has to be gut ischemia first, then bacteria have to show up and feedings exacerbate it. For example “The bacteria enter the bowel via the area damaged by ischemia…the bacteria enter the lining of the gut and multiply and release gas, which can accumulate within the bowel wall. If the necrosis from the ischemia is severe or the damage by bacteria is severe, then it can perforate the muscular layer of the bowel wall and cause a perforation.” That is the kind of explanation I want. You do not have to describe the cytokines or leukotrienes like PAF, TNF, interleukins, growth factors, etc. Just state there is inflammation and the inflammatory mediators show up. I really want to know that you understand it. AND YOU MUST WRITE IN YOUR OWN WORDS!! NO QUOTES AND NO PLAGIARISM!!
d. Physiology of the Symptoms (10 pts): What causes the symptoms that were discusses as important with this disorder? So for NEC, you explain that aspirates and distension occur due to a paralytic ileus that occurs with any damage to the gut. Fever, lethargy, and apnea/bradys occur because of the overwhelming septicemia that develops. I hope that is making sense. (no symptom physiology/patho = Minus 10 pts each section)
4) Differential & Definitive Diagnosis: This is usually just a list of some possible diagnoses that could have some of these same symptoms. Your favorite should be on the list. Then state why you picked the one from the list that is the most logical and just explain why you picked it….
5) Laboratory Findings: If you order something, it should be something that helps you with your specific diagnosis. If you order it, you must explain what the result would be if the patient did have that diagnosis…what would you find? Important that you know this, not just ordering a bunch of studies, but you need to know what the normal and abnormals are for each study you order.
6) ADULT CASES: (see sample in the case study module)
7) APA & CITATIONS/REFERENCES: You do not need to use APA format, or double spacing, but leave room between your questions and answers for us to place comments in the grading system “Crocodoc”. Explanations about accessing the CROCODOC grader is in the course RESOURCE section! Make sure you can read your instructor comments when she returns your paper. You DO NEED citations throughout the paper for anything that has statistics, numbers, or things you didn’t know before you looked it up. If the information is in every resource you look at – the same information – and pretty much all nurses know this inforamtion, then you do not need to cite it. If it is your own head knowledge, written in your own words, you do not need to cite it. If you use a couple resources for their ideas, then cite them both for those ideas within the paper. Citations should be at the point where the ideas are referred to (not just at the end of the paragraphs). REFERENCES: The minimal amount required is 2 articles and your textbook! Also, use of the eMedicine website (which is really good) but this can’t be your article to summarize, or the UpToDate website for adult references. These will help you (like an encyclopedia) with all the basic information. But find 2 ARTICLES that help explain the pathophysiology for your summaries for the extra credit points. Also, websites that are NOT peer-reviewed should NEVER be used for scholarly work, therefore, no Wikipedia PLEASE!!! No citations = Minus 5pts & Minus 5 pts for no references = TOTAL 10 points off if no references used!! DON’t forget the references!!
8) ARTICLE SUMMARIES X 2 for EXTRA CREDIT(+ 5pts): Use the articles in your case studies if you want the extra points. Then write up the summaries into a 1-2 paragraphs about what you learned from the article – if it wasn’t very good, say so. If you learned a lot that helped you with the case, say that. Explain what you learned….not just that you did learn. If these 2 summaries are written and you upload a copy of the article in PDF format (not scanned copies please and no links please….), then you’ll get the extra 5 points. If you do NOT upload the article, you will lose 1 point for each of the extra credit points. You all should be getting the extra 5 pts for each of these cases so that it will help your overall grade. If you do not include the article, then you get only 3 pts extra….because then the faculty have to spend our time trying to find the article online. Also, don’t give us just the link either. Links may not always work depending on where you are…so for the full extra credit points, you upload 2 articles. Only upload the 2 articles that you write summaries on. use the remaining one page for the summary and upload the articles you used with the summary as the part two of this paper.
ALSO Refer to the rubric for our grading guidelines for the neonatal & pediatric case studies!
I hope these guidelines help!
McCance, K., & Huether, S. (2014). Pathophysiology: The biologic basis for disease in adults and children. (7th Ed.). St. Louis, MO: C.V. Mosby, ISBN 978-0-323-08854-1.
See the rubric for my grading.
Neonatal/Peds Case Study Rubric
Sections / Points
Most information given
Some information missing
No information given
Correct differential diagnosis and explanation
Good critical thinking but incorrect diagnosis
Incorrect thinking on differential/or explanation though diagnosis correct
Differential Diagnosis information incorrect but with some critical thinking
Incorrect diagnosis and poor critical thinking
Embryology, Pathophysiology and Symptom Physiology
Thoroughly describes embryology (neonatal cases), pathophysiology, & symptom physiology
Describes much of the embryology, pathophysiology & symptom physiology
Describes either the embryology & pathophysiology or symptom physiology, but not all 3
Describes only one area and/or not described well
No description of embryology, physiology of symptoms, or patho
Definitive Diagnosis (order and result)
Appropriate diagnostic orders and results explained
Either diagnostic order or result missing
Neither diagnostic orders or results given
Parent Interaction (information & tone)
Gives full explanation using appropriate tone
Some information missing but appropriate tone
Information missing and/or tone inappropriate
APA & Writing Style (citations, references, grammar and/or spelling)
(& Article Submission)
Uses APA format, good grammar, correct spelling and cites references appropriately (minimum 3)
Some grammar errors, spelling errors or minimal citations
Poor grammar, spelling errors, missing APA formatting or no citations
Total Score = 100 points
(Extra Credit of +2.5 points for each Article Summary [2 max])
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