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As you will recall from Week 2’s lesson, the evolving case study focused on the

ID: 66783 • Letter: A

Question

As you will recall from Week 2’s lesson, the evolving case study focused on the genetic development of Down syndrome. Your assignment for that lesson was to describe the development of the genetic mutation at the cellular level to the parents of that child. Well, as has been described in this week’s lesson, cancer also is considered a disease of genetic mutation. And as it turns out, the grandfather of this young child has been having the following symptoms: unexplained fatigue, bloody stools, and diarrhea. Based on those symptoms, please respond to the following: 1. What type of diagnostic procedure(s) would you expect to be ordered for this grandfather? 2. How will tumor staging affect the treatment options prescribed for him?

Explanation / Answer

Down syndrome:

Down syndrome is caused by trisomy of chromosome 21 and it will result in a number of deleterious phenotypes which includes learning disability, heart defects, early onset Alzheimer’s disease and childhood leukemia. Human cells will have 46 chromosomes arranged in 23 pairs. Here 22 pairs are autosomes and 1pair is allosome. During meiosis, the cell splits into two, giving raise to two cells with half the number of chromosomes of the parent cell. So, normal egg and sperm cell will have 23 chromosomes. But, in some cases, errors occur during cell division, where the pairs of chromosomes will not split and divide equally. If a pair is not dividing, the resulting cell will have 24 chromosomes and the other one have 22 chromosomes. When this abnormal egg or sperm mate with normal one, the resulting fertilized egg will have abnormal number of chromosome. In Down’s syndrome, a cell with two the 21st chromosomes will merge with a normal cell which give raise to a fertilized egg having their 21st chromosomes. This is known as trisomy.

Cancer:

Unexplained fatigue, bloody stools, and diarrhea are the general signs and symptoms of cancer. Fatigue is usually observed in case of some colon or stomach cancers. Diarrhea and change in the size of the stool will indicate the possibility of colon cancer. Blood in the stool can be a sign for colon or rectal cancer.

For diagnostic purpose, we can ask him to go for either, colonoscopy to observe and examine the entire colon and rectum. By taking multiple CT images, we can create a picture of the colon.

After confirming the colon cancer, the next step is the determination of the stage of the cancer. And this will helps to determine what treatments are most appropriate for the patient. This can be done by imaging procedures such as abdominal and chest CT scans.

The stages of colon cancer are and the treatment:

Here through surgery we can take out the cancer. Polypectomey or local excision through a colonoscope. Sometimes, colon resection may be used if the tumor is too big.

Here through surgery we can remove the colon containing cancer along with nearby lymph nodes. After this the patient goes for chemotherapy.

Here first surgery is done, where the colon containing cancer is removed and is followed by chemotherapy and sometimes it is followed by radiation therapy.

Here surgery can’t cure the cancer. But surgery may help the patient to have a long life. So surgery will be one to stop the spreading of cancer. Here the spreading will be checked in liver and lungs. Chemo and radio therapy is recommended.

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