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BIO402: Pathobiology

Unit 5: Genetic and Systemic Disease States   There are numerous genetic and systemic diseases that cause tissue damage and dysfunction.  In this unit, we will briefly examine genetic and systemic biology by examining prototype disease states that impact different systems of the body.  For example, we will study how Duchenne Muscular Dystrophy leads to skeletal muscle wasting and how group B hepatitis destroys the liver’s cells.  When we review the basics of genetics, we will see how cystic fibrosis causes widespread problems in the human body.

Unit 5 Time Advisory
This unit will take approximately 39.25 hours to complete.

☐    Subunit 5.1: 4 hours

☐    Subunit 5.2.1.1: 3 hours

☐    Subunit 5.2.1.2: 3 hours

☐    Subunit 5.2.1.3: 3 hours

☐    Subunit 5.2.2: 3 hours

☐    Subunit 5.2.3: 3 hour

☐    Subunit 5.2.4: 3 hours

☐    Subunit 5.2.5: 4 hours

☐    Subunit 5.2.6: 3.25 hour

☐    Subunit 5.2.7: 3.5 hours

☐    Subunit 5.2.8: 3.5 hours

☐    Subunit 5.2.9: 3 hours

Unit5 Learning Outcomes
Upon successful completion of this unit, the student will be able to:

  • Explain how genetic diseases, such as cystic fibrosis, are passed from parents to offspring.
  • Describe how changes in the skeletal system anatomy and physiology lead to the development of diseases such as osteoporosis.
  • List the main ways that skeletal muscle is altered in muscle disease, including muscular dystrophy.
  • Identify the changes that occur in the circulatory system with atherosclerosis and myocardial infarction.
  • Outline the major changes that occur in renal diseases such as glomerulonephritis.
  • Compare and contrast the changes to the reproductive system seen with HIV and syphilis.
  • Diagram the levels of damage seen with first-, second-, and third-degree burns.
  • Define the major physiology that occurs with hypothyroidism.
  • Write a list of cellular and tissue changes seen with cirrhosis of the liver.
  • Create a list of signs, symptoms, and changes that are observed with Alzheimer’s disease. 

5.1 Genetics   5.1.1 Genetic Basics   - Reading: Nemours’ “The Basics on Genes and Genetic Disorders” Link:  Nemours’ “The Basics on Genes and Genetic Disorders” (HTML and Adobe Flash)
 
Instructions:  This article provides information about genes, heredity, and genetic disorders.  You will also hear about gene therapy, which, as we previously learned, can be used to treat SCID. 
 
Terms of Use: Please respect the copyright and terms of use displayed on the webpage above.

  • Assessment: University of Cincinnati Clermont College’s: “Genetics Practice Problems” Link: University of Cincinnati Clermont College’s “Genetics Practice Problems” (HTML)
     
    Instructions: This resource will provide you with more information about genetics before asking you to try your hand at a few practice problems. 
     
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5.1.2 Genetic Prototype Disease—Cystic Fibrosis   - Reading: National Heart Lung and Blood Institute: Diseases and Conditions Index’s “Cystic Fibrosis” Link:  National Heart Lung and Blood Institute: Diseases and Conditions Index’s “Cystic Fibrosis” (HTML)
 
Instructions:  This site will provide you with a concise yet thorough review of cystic fibrosis.  Click through the modules to learn about cystic fibrosis’ causes, signs and symptoms, diagnosis, and treatments.  Information about genetic mutation is included.
 
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5.2 Systemic Disease States   5.2.1 Skeletal System   5.2.1.1 Overview   - Lecture: Marisa Bush’s “Skeletal System Review” Link:  Marisa Bush’s “Skeletal System Review” (Adobe Flash)
 
Instructions:  This basic PowerPoint lecture takes you through the key points of the skeletal system.  It may seem basic, but it contains a great deal of important information.
 
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5.2.1.2 Prototype Disease—Osteoporosis   - Web Media: University of Washington: Dr. Susan Ott’s “Osteoporosis and Bone Physiology” Link:  Universityof Washington: Dr. Susan Ott’s “Osteoporosis and Bone Physiology” (HTML)
 
Instructions:  Click on osteoporosis to begin.  Work your way through the modules to get a clear understanding of osteoporosis, its causes, its diagnosis, and its treatment.  You will also learn about the vitamins, minerals, and hormones it affects.  Scroll to the bottom of the page and click on the arrow to move to the next page.  
 
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  • Web Media: NIH Osteoporosis and Related Bone Diseases National Resource Center’s “Interview of Dr. McGowan: Bone Health and Osteoporosis” Link:  NIH Osteoporosis and Related Bone Diseases National Resource Center’s “Interview of Dr. McGowan: Bone Health and Osteoporosis” (PDF)
     
    Instructions: Scroll to the bottom of this page.  On the right hand side, you will find the link to Dr. McGowan’s interview about osteoporosis (51:39 minutes).  It is available as a Podcast or a transcript.  Stop as needed to take notes on this topic.
     
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5.2.1.3 Osteoporosis Case Study   - Web Media: University of Missouri-Columbia School of Health Professions: Sarah B. King and Dr. Marian A. Minor’s “Osteoarthritis and Exercise” Link:  University of Missouri-Columbia School of Health Professions: Sarah B. King and Dr. Marian A. Minor’s “Osteoarthritis and Exercise” (HTML)
 
Instructions:  Click through the modules presenting the case of a 52-year-old woman.  To progress to the next screen, scroll to the bottom of the page.  Pay careful attention to the patient’s radiographs.
 
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  • Assessment: The Saylor Foundation’s “Skeletal System and Osteoporosis” Link:  The Saylor Foundation’s “Skeletal System and Osteoporosis” (HTML)

    Instructions: Complete this multiple choice assessment. 

    Completing this assessment should take approximately 20 minutes.

5.2.2 Muscular System   5.2.2.1 Overview   - Web Media: You Tube’s “Anatomy and Physiology Review of Skeletal Muscle Tissue” Link: You Tube’s “Anatomy and Physiology Review of Skeletal Muscle Tissue” (YouTube)
 
Instructions:  This video (11:00 minutes) will provide you with a concise introduction to the muscular system and skeletal muscle.  Make sure that you understand how skeletal muscle is arranged, as this information will become important when we look at muscular dystrophy.
 
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5.2.2.2 Prototype Disease—Muscular Dystrophy   - Lecture: Author Stream: Mrs. Rani Ashok’s “Muscular Dystrophy” Link:  Author Stream: Mrs. Rani Ashok’s “Muscular Dystrophy” (Adobe Flash)
 
Instructions:  Click through this PowerPoint lecture, which will provide you with detailed information about the set of muscular diseases collectively known as muscular dystrophy.
 
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  • Web Media: Muscular Dystrophy Association’s “DMD Gene Therapy Injection with Dr. Mendell and Kilbarger Family” Link:  Muscular Dystrophy Association’sDMD Gene Therapy Injection with Dr. Mendell and Kilbarger Family (RealAudio file)
     
    Instructions:  Scroll down to the research videos and click on “DMD Gene Therapy Injection with Dr. Mendell and Kilbarger Family.”  This video (7:31 minutes) shows how gene therapy is being used to treat one type muscular dystrophy known as Duchenne Muscular Dystrophy. 
     
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5.2.2.3 Muscular Dystrophy Case Study   - Assessment: McGraw-Hill: Case Studies Anatomy and Physiology’s “Case Study 8: Duchenne Muscular Dystrophy” Link:  McGraw-Hill: Case Studies Anatomy and Physiology’s “Case Study 8: Duchenne Muscular Dystrophy” (HTML)
 
Instructions:  Read the case study and attempt to answer the questions below.  Check your answers to assess what you have learned.
 
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5.2.3 Circulatory System   5.2.3.1 Overview   - Web Media: You Tube’s “Circulatory System” Link: You Tube’s “Circulatory System” (YouTube)
 
Instructions:  This short video (1:08 minutes) introduces you to the circulatory system, which is sometimes referred to as the cardiovascular system.  We will examine two prototype disease states that impact the circulatory system: atherosclerosis and myocardial infarction. 
 
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5.2.3.2 Prototype Disease—Atherosclerosis   - Web Media: You Tube: Astra Zeneca’s “Medical - How Cholesterol Clogs Your Arteries (Atherosclerosis)” Link: You Tube: Astra Zeneca’s “Medical - How Cholesterol Clogs Your Arteries (Atherosclerosis)” (YouTube)
 
Instructions:  This video (5:37 minutes) will provide you with a solid overview of the disease state “Atherosclerosis.”
 
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5.2.3.3 Prototype Disease—Myocardial infarction   - Web Media: Metacafe’s “Myocardial Infarction” Link:  Metacafe’s “Myocardial Infarction” (Adobe Flash)
 
Also available in:
YouTube
 
Instructions:  This short video demonstrates how a myocardial infarction (heart attack) occurs. 
 
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5.2.3.4 Myocardial Infarction Case Study   - Assessment: Delta Health Education Partnership’s “Cardiac Case Study for Module #3” The Saylor Foundation does not yet have materials for this portion of the course. If you are interested in contributing your content to fill this gap or aware of a resource that could be used here, please submit it here.

[Submit Materials](/contribute/)

5.2.4 Urinary (Renal) System   5.2.4.1 Overview   - Lecture: Virginia Commonwealth University: D. C. Mikulecky’s “Renal Physiology” Link: Virginia Commonwealth University: D. C. Mikulecky’s “Renal Physiology” (HTML)
 
Also available in:

[PowerPoint](http://www.people.vcu.edu/%7Emikuleck/courses/renal/renal.ppt)  
    
 Instructions:  Click on “Click Here to Start” and work your way
through the slides.  
    
 Terms of Use:  Please respect the copyright and terms of use
displayed on the webpage above.

5.2.4.2 Prototype Disease—Glomerulonephritis   - Lecture: Slide World’s “Glomerulonephritis” Link:  Slide World’s “Glomerulonephritis” (Adobe Flash)
 
Instructions:  This slide set contains a lot of information on glomerulonephritis, which we will use as our prototype disease state for the urinary system.  Numerous disease states in the body can impact the kidneys and its filtration system, the glomerulus.  Inflammation of the glomerulus (glomerulonephritis) is associated with uncontrolled diabetes mellitus, lupus, and even streptococcus infections.  Focus on the bigger picture with these slides. 
 
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5.2.4.3 Glomerulonephritis Case Study   - Reading: Journal of Korean Medical Science’s Hye-Young Sung’s “A Case of Post-Streptococcal Glomerulonephritis with Diffuse Alveolar Hemorrhage” Link:  Journal of Korean Medical Science’s Hye-Young Sung’s “A Case of Post-Streptococcal Glomerulonephritis with Diffuse Alveolar Hemorrhage” (HTML)

 Instructions:  This journal article presents a case example of a
patient who developed glomerulonephritis following a streptococcal
infection.   

 Terms of Use:  Please respect the copyright and terms of use
displayed on the webpage above.
  • Assessment: The Saylor Foundation’s “Urinary System and Glomerulonephritis” Link:  The Saylor Foundation’s “Urinary System and Glomerulonephritis” (HTML)

    Instructions: Complete this multiple choice assessment. 

    Completing this assessment should take approximately 20 minutes.

5.2.5 Reproductive System   5.2.5.1 Overview   - Web Media: BrightStorm’s “Reproductive System” Link: BrightStorm’s “Reproductive System” (Adobe Flash)

 Instructions:  View this short lecture (5:46 minutes) on the
reproductive system.  Pay close attention to the differences between
male and female.  

 Terms of Use:  Please respect the copyright and terms of use
displayed on the webpage above.
  • Reading: Estrella Mountain Community College: M. J. Farabee’s “Human Reproduction and Development” Link: Estrella Mountain Community College: M. J. Farabee’s “Human Reproduction and Development” (HTML)
     
    Instructions:  Please read the entire section on human reproduction and development.
     
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5.2.5.2 Prototype Disease—Syphilis   - Reading: Mayo Clinic’s “Syphilis” Link: Mayo Clinic’s “Syphilis” (HTML)
 
Instructions:  Sexually transmitted diseases (STDs) impact thousands of people every year.  Syphilis is one type of STD.  Read through each section of the linked reading above and review the disease’s signs and symptoms, stages of development, testing and diagnoses, and treatments.  Notice how syphilis can impact tissues and organ systems besides the reproductive system. 
 
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5.2.5.3 Syphilis Case Study   - Reading: Sexually Transmitted Infections: B. T. Goh’s “Syphilis in Adults” Link: Sexually Transmitted Infections’: B. T. Goh’s “Syphilis in Adults” (HTML)
 
Instructions:  This full length journal article includes graphic images of the damage that syphilis causes to soft tissue.  Although it is not a case study, it is a culmination of various case studies with the most common disease manifestations presented.
 
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  • Assessment: The Saylor Foundation’s “Reproductive System and Syphilis” Link: The Saylor Foundation’s “Reproductive System and Syphilis” (HTML)
     
    Instructions: Complete this multiple choice assessment. 

    Completing this assessment should take approximately 20 minutes.

5.2.6 Integumentary System   5.2.6.1 Overview   - Web Media: Slackerbiz’s “Integumentary System Structure and Function” Link: Slackerbiz’s “Integumentary System Structure and Function” (YouTube)
 
Instructions:  This video (7:05 minutes) gives you an overview of the structure and function of the integumentary system—the skin.
 
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5.2.6.2 Prototype Disease—Burns   - Web Media: About.com’s “Types of Burns” Link: About.com’s “Types of Burns” (YouTube)
 
Instructions:  Burns disrupt the function of the skin (integumentary system) and are classified based on their severity.  This short video (1:27 minutes) explains how burns are classified based on tissue damage.
 
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5.2.6.3 Burns Case Study   - Reading: The University of Iowa: Dr. Ronald A. Bergman’s “Anatomy of First Aid: A Case Study Approach Burns (by Degree)” Link:  The University of Iowa: Dr. Ronald A. Bergman’s “Anatomy of First Aid:  A Case Study Approach Burns (by Degree)” (HTML)
 
Instructions:  This one-page article uses a case study approach to teach you about burn care.  It includes images of the level of tissue damage caused by first, second, and third degree burns.
 
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  • Assessment: The Saylor Foundation’s “Anatomy of First Aid: Burns” Link: The Saylor Foundation’s “Anatomy of First Aid: Burns” (HTML)

    Instructions: Complete this assessment. Match the key terms with their corresponding definition.

    Completing this assessment should take approximately 15 minutes.

5.2.7 Endocrine System   5.2.7.1 Overview   - Web Media: How Stuff Works Videos’ “Human Body Systems: The Endocrine System” Link:  How Stuff Works Videos’ “Human Body Systems: The Endocrine System” (Adobe Flash)
 
Instructions:  This is a video (6:13 minutes) that outlines the endocrine system and shows how it is intimately linked with other body systems.  At this point, you should be making connections between the pathophysiology of one system and the physiology and pathophysiology of other systems. 
 
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5.2.7.2 Prototype Disease—Hypothyroidism   - Lecture: FatIsNotYourFault’s “Guide to Hypothyroidism” Link:   FatIsNotYourFault’s “Guide to Hypothyroidism” (YouTube)
 
Instructions:  Thyroid disorders like hypothyroidism (a decrease in thyroid function) are among the most common endocrine disorders (after diabetes mellitus, which is the most common endocrine disorder in existence).  This short video (2:44 minutes) introduces the causes of hypothyroidism.  Note the numerous organs and tissues involved with the endocrine system and observe how a defect in any of these can lead to a pathophysiological state.
 
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  • Reading: Endocrine Web: Dr. James Norman’s “Hypothyroidism: Too Little Thyroid Hormone” Link:  Endocrine Web: Dr. James Norman’s “Hypothyroidism: Too Little Thyroid Hormone” (HTML)
     
    Instructions:  Now that you can identify the various tissues that can cause hypothyroidism, you will take an in-depth look at the disease state.
     
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5.2.7.3 Hypothyroidism Case Study   - Reading: Reading: The Journal of Family Practice: Drs. James V. Hennessey and Joseph E. Scherger’s “Evaluating and Treating the Patient with Hypothyroidism” Link:  The Journal of Family Practice: Drs. James V. Hennessey and Joseph E. Scherger’s “Evaluating and Treating the Patient with Hypothyroidism” (HTML)

 Also Available In:  
 PDF (link at top of article)  

 Instructions:  This article presents an excellent case study of
Mrs. Jones and hypothyroidism.  

 Terms of Use:  Please respect the copyright and terms of use
displayed on the webpage above.
  • Assessment: The Saylor Foundation’s “Hypothyroidism” Link:  The Saylor Foundation’s “Hypothyroidism” (HTML)

    Instructions: Complete this multiple choice assessment. 

    Completing this assessment should take approximately 30 minutes.

5.2.8 Liver Function   5.2.8.1 Overview   - Web Media: The University of Nottingham’s “The Physiology of the Liver” Link:  The University of Nottingham’s “The Physiology of the Liver” (HTML and Adobe Flash)
 
Instructions:  Click your way through this animation on liver function.  Use the tabs to learn how the liver is involved with numerous processes in the body. 
 
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5.2.8.2 Prototype Disease—Cirrhosis   - Reading: Merck’s “Cirrhosis” Link: Merck’s “Cirrhosis”  (HTML)
 
Instructions:  This reading will provide you with information about liver cirrhosis, which is commonly caused by alcoholism or hepatitis (inflammation of the liver), but might also be caused by prescription or non-prescription drugs and—in some cases—appears idiopathic (of unknown cause). 
 
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5.2.8.3 Cirrhosis Case Study   - Reading: Clinical Chemistry: Marion L. Snyder and Corinne R. Fantz’s “Cirrhosis Originally Diagnosed as Nonalcoholic Steatohepatitis” Link:  Clinical Chemistry: Marion L. Snyder and Corinne R. Fantz’s “Cirrhosis Originally Diagnosed as Nonalcoholic Steatohepatitis” (HTML)

 Also available in:  
 [PDF](http://www.clinchem.org/cgi/reprint/54/8/1395)  

 Instructions:  Read this case study, noting how the underlying
damage of the liver’s tissue leads to widespread effects throughout
the body.  

 Terms of Use:  Please respect the copyright and terms of use
displayed on the webpage above.
  • Assessment: The Saylor Foundation’s “Cirrhosis” Link:  The Saylor Foundation’s “Cirrhosis” (HTML)

    Instructions: Complete this multiple choice assessment.

    Completing this assessment should take approximately 30 minutes.

5.2.9 Nervous System   5.2.9.1 Overview   - Web Media: Eastern Kentucky University: Dr. Gary Ritchison’s “Neurons and the Nervous System” Link:  Eastern Kentucky University: Dr. Gary Ritchison’s “Neurons and the Nervous System” (HTML and Adobe Flash)
 
Instructions:  This link includes reading material and videos that will provide you with a complete understanding of neurons and the nervous system more generally.
 
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5.2.9.2 Prototype Disease   - Web Media: Alliance for Aging Research’s “What is Alzheimer’s Disease?” Link:  Alliance for Aging Research’s “What is Alzheimer’s Disease?” (YouTube)
 
Instructions:  This is an excellent video (3:15 minutes) that discusses the causes and symptoms of Alzheimer’s Disease. 
 
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  • Web Media: Cold Spring Harbor Laboratory: DNA Learning Center’s “What Causes Alzheimer Disease?” Link: Cold Spring Harbor Laboratory: DNA Learning Center’s “What Causes Alzheimer Disease?” (Adobe Flash)
     
    Instructions: This slide set with animations does a great job showing what is known about Alzheimer’s disease.  Click your way through it and be sure to stop and take notes as you progress.
     
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5.2.9.3 Alzheimer’s Case Study   - Web Media: New England PET Imaging’s “Case Study Brain/Alzheimer’s Disease” Link:  New England PET Imaging’s “Case Study Brain/Alzheimer’s Disease” (HTML)
 
Instructions:  This is a case study showing PET scans of a patient with Alzheimer’s Disease.  Additional images will be seen in the “Autopsy” section of this course. 
 
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