This is a Mystery Disease Assignment. Context: Jeanne is a 32-year-old African A

Question

This is a Mystery Disease Assignment.

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.

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

Explanation / Answer

1.Often when a baby is cyanosed or has a heartbeat cardiologist will conduct physicl examination and tests to confirm the diagnosis .Heartmurmurs are commom and therefore there is no reason for concern.Echocardiography is done to rule out Tetrology of Fallot,to determine whether the baby is suffering from VSD ie ventricular septal defect.it will help the doctor to quickly analyze the situation and start treatment as early as possible.ECG helps in determing the heart rythm whether it is regular or irregular and spots out any variations in the rythm.Hyperoxia test which is useful in ruling out pulmonary causes.

2

3 if the baby fails the hyperoxia test,is cyanotic ,do not have a PPHN ie Persistent pulmonary hypertension or have a lung disease ,then this infants is ikely to have a cyanotic heart disease such as Tetrology of Fallot or a ductal dependent heart defect such as PDA or it could be CHF

4 Final diagnosis is CHF as most of the symptoms matches with CHF.as it is one of the condition which occrs in children below 2 months.Feeding difficulties and excessive sweating are the presenting features,with tachycardia>150,characterized by an abnormal respiratory pattern,diastolic filling sounds.

5 CCF is a state in which poor circulation results in heartfailure,due to the inability of the heart to pump adequate amount of blood . In heart failure due to overlading of ventricle there is a reduced force of contraction.In a normal person increased filling of the ventricles results in increased contraction force and a rise in cardia output .aBut in CCF this mechanism fails.Treatment is based on the cause of CHF and aims at preventing the progression of disease

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