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BSC2346 Human Anatomy and Physiology I
Module 01 Case Study
Question 1
Ben is a 6-month old infant who has a history of respiratory infections. His parents are concerned that his symptoms are worsening and bring him to his pediatrician, Dr. Johnson. They explain that he has a persistent cough and sometimes coughs up phlegm. He also experiences periodic wheezing and shortness of breath. Dr. Johnson notes that his weight and height have not increased as much as predicted since his last visit. He is concerned that Ben may have a genetic condition called Cystic Fibrosis.
There are several ways to test for Cystic Fibrosis. In your own words, briefly describe 2 diagnostic tests that Dr. Johnson could use to determine if Ben has Cystic Fibrosis.
Question 2         
Cystic Fibrosis is an inherited condition. Which of the following describes the inheritance pattern?
X-linked recessive
Autosomal recessive
X-linked dominant
Autosomal dominant
Question 3         
List at least 3 other symptoms of Cystic Fibrosis that are not mentioned in the case study about Ben.
Question 4
Which of Ben’s parents carried the defective gene which causes Cystic Fibrosis?
Neither parent- this was passed on from a prior generation
His mother
Both Parents
His father
Question 5
If both of Ben’s parents are Cystic Fibrosis carriers and plan to have another child, what are the chances that their next child would NOT be a carrier and would NOT be affected by Cystic Fibrosis?
Question 6         
In your own words, briefly describe how the Cystic Fibrosis gene affects the cell membrane.
Question 7         
Which of the following is not a common treatment for Cystic Fibrosis?
Pancreatic enzyme supplementation
Frequent blood transfusions
Prescription medications, such as mucolytics, inhaled through a nebulizer
Using an inflatable vest that vibrates to loosen mucus in the chest
Question 8
In your own words, briefly describe why Ben’s skin may taste salty.
Question 9
Which of the following statements is true of Cystic Fibrosis?
Cystic Fibrosis is generally diagnosed between 20-40 years of age.
Cystic Fibrosis affects the ability of chloride ions to pass through the cell membrane.
Cystic Fibrosis involved multiple mutations of more than one gene.
A carrier of Cystic Fibrosis has a 100% chance of having a child with Cystic Fibrosis.
Question 10       
Which tissue type is most affected by the excess mucus produced in Cystic Fibrosis?
Connective tissue
Epithelial tissue
Nervous tissue
Muscle tissue
Question 11
Taylor, a 6-month-old infant, has recently been very fussy and appears to be in pain when his parents touch or squeeze his hands and feet. Both extremities have shown swelling that appears to be increasing slowly over time. He had a condition known as jaundice when he was born and his parents are noticing that his skin is starting to have that same yellowish color that it did when he was a newborn. Taylor’s parents are very concerned and take him to his pediatrician.
Taylor’s pediatrician decides to perform blood tests because he is concerned that Taylor may have sickle cell disease. If he is , which of the following tests would be abnormal?
HIV antibodies
Question 12       
Taylor’s test results provide a definitive diagnosis of sickle cell disease. Which other symptom would be common for his disease?
Weight gain
Increased energy
Question 13       
Why would the physician be interested in Taylor’s parents’ ethnicity? In your own words, provide a brief explanation of why ethnicity may be related to Taylor’s diagnosis.
Question 14       
Taylor’s parents have never been tested for sickle cell disease because they have never had any of the common signs or symptoms. Knowing that Taylor has sickle cell disease, which of the following statements is true?
Taylor’s father carries the gene for SCD and his mother does not.
Both of Taylor’s parents carry the gene for SCD.
Taylor’s mother carries the gene for SCD and his father does not.
This disease trait skips generations and neither of his parents is a carrier for the SCD gene.
Question 15
If Taylor’s parents have another child, what is the likelihood that the second child will be a CARRIER of the sickle cell trait?
Question 16       
Sickle cell disease is a dominant disease, which means both parents of an affected individual must carry the sickle cell trait.
Question 17
If a red blood cell is affected by sickle cell disease, which of the following is true?
The plasma membrane of the red blood cell allows too much fluid into the cell because of a hypotonic environment.
The plasma membrane of the red blood cell allows too much fluid into the cell because of a hypertonic environment
The nucleus of the red blood cell has genetic defects.
Abnormal hemoglobin causes abnormal structure of the red blood cell.
Question 18
Sickle cell disease can be detected by prenatal screening. In your own words, briefly describe this process.
Question 19
Which of the following is NOT a possible treatment for sickle cell disease?
Liver transplant
Hematopoietic stem cell transplantation
Preventative antibiotics
Red blood cell transfusions
Question 20
In your own words, briefly describe how sickle cell disorder affects homeostasis in the human body.

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