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Jeanne is a 32-year-old African American woman who’s pregnant with twins near term comes for her weekly exam.

This is a Mystery Disease Assignment.

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Context:

Jeanne is a 32-year-old African American woman who’s pregnant with twins near term comes for her weekly exam. Her prenatal tests show that she is not diabetic. The alpha-fetoprotein levels indicate no neural tube defects, and an amniocentesis showed no birth defects or Rh factor problems. The babies seem active and about the same size. No history of birth heart defects in either side of the family.

During a routine heart exam via stethoscope, the doctor hears what sounds like a heart murmur, but it is difficult to single out with twins. So, the doctor monitors Jeanne very closely for the remainder of the pregnancy.

At birth, Jeanne delivers fraternal twins. The female is cyanotic with a much faster respiratory rate. The male has a heart rate of about 120, his heart sounds normal, and his color is pink. The female remains cyanotic. Her breathing is much faster and deeper than her brother’s, and she starts coughing. She has a heart rate of 160 and a heart murmur—and there is a whirring sound between the lub and the dub.

Assessment Results:

Parameter Female Patient Male Patient
Color of ?nger tips and lips Blue (Cyanotic) Pink
Heart rate (b/m) 160 120
Heart sounds Lub whirrrrrr dup Normal
Blood pressure 85/55 110/70
Arterial PO2 100 100
Behavior Lethargic; sleepy Normal
Breathing Heavy, rapid, congested Normal
Feeding Disinterested Normal

The baby girl’s ’s congestion is becoming progressively worse and she is coughing. And, although she is lethargic, the coughing is keeping her awake.

Questions:

Question 1: (10 points) : LABS. This explains how you will continue your work-up with other commonly applied tests. You need to describe specifically what the tests will analyze and if there is anything in particular in that test that pertains to the situation. Here YOU will provide the tests to be done that are routine, describe what they test for and include their normal range. You can use the example as a template. However, do not make up results. Just tell me what you will do, why and how.

Question 2: (15 points): LIST YOUR FINDINGS. (This is not because I want you to regurgitate what is already written. This is an important exercise because it forces you to go over in DETAIL all information in the case. Therefore, this section needs to be detailed because it is the subtleties between symptoms and the patient history that give you the important clues to correctly diagnose the patient. Also you want to correctly report these to the doctor so she/he has all the information in formulating an appropriate approach to treatment). Also if lab results are given, you will describe in this section, what is different from normal or how it differs.

Always carefully recap all signs and symptoms because there may be important subtle information that can give you clues towards correctly identifying the problem. Think of it as a puzzle and you have to put the pieces together (of mystery and you have to gather all the clues to see the patterns correctly.

An echocardiogram reveals that the girl’s heart valves are normal—neither incompetent nor stenotic.

Question 3: (15 points) DIAGNOSES: Short list of possible ailments. Write down 3 diagnoses with a rationale why you chose those 3 diagnoses. The rationale should show a direct relationship to the findings and ROS. (on this section, just list your 3 best possibilities. You need to be in the ballpark. In other words, if it is a fungal infection in the lungs and you put viral or bacterial, then you will points off BECAUSE there will be important information that leads you to that possibility. If you state cancer as a possibility or maybe COPD, then you will NOT get points off even if you do not put the actual case diagnosis.)

Question 4: (15 points) FOLLOW UP TEST/STUDIES: In this section CHOOSE THE MOST LIKELY DIAGNOSES IN YOUR OPINION and follow up with that one diagnosis only.

These tests should be specific in nature and allow you to determine whether or not the patient has that particular problem/disease. You should include information demonstrating you understand how the test is conducted, any principles behind it and predict what it will show. These tests can either be specific for the condition (if commercially available) or exclusive of other conditions (ruling the other stuff out).

How will you continue your work-up?

Question 5: (25 points) Pathophysiology: Even if your diagnosis is not the actual one, as long as you have a good explanation for the ONE you chose, you WILL GET FULL CREDIT. There are 4 criteria you should always address in this answer. 1) How does the disease/condition make the person feel sick (6 points), 2) what is a treatment for it (6 points), 3) how does the treatment work to counter the disease/condition (6 points), 4) how does it affect the

patient’s symptoms (6 points).

(Remember**** this section is worth 25 points. So, be careful here!!!!)

Question 6: (5 points) follow up question: In this section, describe different things you would look for and ask about in a follow up appointment with the patient. You will be responsible for determining how the patient is responding.

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