Videos
Children with Muscular Disorders
You're doing a clinical rotation with Dr. Barr, a world-renowned specialist in children's muscle disorders. On your first day, you meet three patients with the same probable diagnosis—nemaline myopathy. Jodi, age 2, has a waddling walk and difficulty standing; Linda. 6 months, has pneumonia associated with problems swallowing; and Tom, 12, has progressive weakness with foot drop and difficulty walking.
“This kind of variation is not surprising.” says Dr. Barr. “A mutation in one of 11 different genes related to thin filaments can cause nemaline myopathy, so you’d expect to see it present in different ways.”
Dr. Barr has scheduled all three children for a muscle biopsy (surgical removal of a small piece of muscle tissue for examination). He explains to you. “We’re going to use these biopsies for two things. First, we're going to look for the characteristic histology of nemaline myopathy. Second, we're going to test for malignant hyperthermia. It's not associated with nemaline myopathy but is associated with a different myopathy that has a similar presentation.”
Malignant hyperthermia is caused by a mutation in a gene related to calcium storage and release in skeletal muscle cells. In individuals with malignant hyperthermia, certain anesthetics can trigger a massive release of calcium into the cytoplasm. This leads to the generation of enough heat to substantially raise body temperature—a life-threatening reaction.
7. Histology confirms nemaline myopathy in all three children. They are prescribed resistance training to strengthen their respiratory muscles. How will this affect their muscle cells?
Want to see the full answer?
Check out a sample textbook solution
Chapter 9 Solutions
HUMAN ANATOMY+PHYSIOLOGY-ACCESS(IAC)
- Selection of Traits What adaptations do scavengers have for locating and feeding on prey? What adaptations do predators have for capturing and consuming prey?arrow_forwardCompetition Between Species What natural processes limit populations from growing too large? What are some resources organisms can compete over in their natural habitat?arrow_forwardSpecies Interactions Explain how predators, prey and scavengers interact. Explain whether predators and scavengers are necessary or beneficial for an ecosystem.arrow_forward
- magine that you are conducting research on fruit type and seed dispersal. You submitted a paper to a peer-reviewed journal that addresses the factors that impact fruit type and seed dispersal mechanisms in plants of Central America. The editor of the journal communicates that your paper may be published if you make ‘minor revisions’ to the document. Describe two characteristics that you would expect in seeds that are dispersed by the wind. Contrast this with what you would expect for seeds that are gathered, buried or eaten by animals, and explain why they are different. (Editor’s note: Providing this information in your discussion will help readers to consider the significance of the research).arrow_forwardWhat is the difference between Uniporters, Symporters and Antiporters? Which of these are examples of active transport?arrow_forwardWhat are coupled transporters?arrow_forward
- How do histamine and prostaglandins help in the mobilization of leukocytes to an injury site? What are chemotactic factors? How do they affect inflammation process?arrow_forwardCompare and contrast neutrophils and macrophages. Describe two ways they are different and two ways they are similar.arrow_forwardDescribe the effects of three cytokines (not involved in the initial inflammation response). What cells release them?arrow_forward
Medical Terminology for Health Professions, Spira...Health & NutritionISBN:9781305634350Author:Ann Ehrlich, Carol L. Schroeder, Laura Ehrlich, Katrina A. SchroederPublisher:Cengage Learning
Comprehensive Medical Assisting: Administrative a...NursingISBN:9781305964792Author:Wilburta Q. Lindh, Carol D. Tamparo, Barbara M. Dahl, Julie Morris, Cindy CorreaPublisher:Cengage Learning
Lifetime Physical Fitness & WellnessHealth & NutritionISBN:9781337677509Author:HOEGERPublisher:Cengage