Find a disease other than Epidermolysis Bullosa that affects one of the cell-cell junctions or cell-matrix junctions discused in class. Describe (a) the pathophysiology, (b) the symptoms or other abnormalities and (c) the treatment, if any.

Find two diseases that affect mitochondrial function. For each disease (a) Discuss the pathophysiology of the disorder, (b) the symptoms and other abnormalities a patient experiences and (c) the treatment, if any.  

Muscle & Neurotransmitter Case Study (CS2) Name:

Case Study: Muscle Weakness

Chief Complaint: A 26-year-old woman with muscle weakness in the face.

Patient Presentation:

A 26-year-old woman with muscle weakness in the face.

Patient History:
Jill Rothman, a 26-year-old gymnastics instructor, presents with complaints of muscle weakness in her face that comes and goes, and has been getting worse over the past two months. Her symptoms get worse by the end of an active day. Most notably, she complains that her "jaw gets tired" as she chews and that swallowing has become difficult.

She also notes diplopia ("double vision") which seems to come on late in the evening, particularly after reading for a few minutes. At work, it has become increasingly difficult to "spot" her gymnasts during acrobatic moves because of upper arm weakness.

Physical Exam:
- she has ptosis ("drooping") of both eyelids after repeated blinking exercises.

- When smiling, she appears to be snarling – indicating asymmetry in contraction of facial muscles.

Tests:

- Single fiber electromyography (EMG or muscle test) testing revealed progressive muscle weakness, and decreased strength of contraction, of the distal arm flexor muscles upon repeated mild shocks (5 shocks per second) of the ulnar and median nerves.
- Her symptoms and EMG findings were reversed within 40 seconds of intravenous administration of edrophonium (Tensilon) - an acetylcholinesterase inhibitor (ACh-EI).
- A CT scan of Jill’s chest reveals thymus hyperplasia.
- Blood testing also revealed high levels of an ACh receptor antibody in her plasma.

Instructions: Use what you’ve learned about muscle physiology, and searching Google, to come up with:

A) A reasonable diagnosis for Jill’s condition: (HINT – if you type in Jill’s symptoms (in bold), and edrophonium, into google, you’ll quickly find out what the disorder is most likely to be.)

Diagnosis? ________Myasthenia gravis _________________________________________________

and
B) A reasonable course of pharmacological treatment, and WHY that treatment helps her, based on the diagnosis: (Google search for this disorder)

Treatment(s)? Medications such as Cholinesterase inhibitors,Corticosteroids and Immunosuppressants some of these medications can work together to help improve muscle contraction and muscle strength. Intravenous therapy could also be a treatment use such as Plasmapheresis,Intravenous immunoglobulin, and Monoclonal antibody these a blood transfusion that could be used it where you exchange plasma to filtrare overactive immune cells in the blood signaling your muscles to move. Lastly, surgery could also an option to remove the thymus gland.

Questions:

1. Why is this young woman experiencing difficulty chewing and double vision (diplopia)?

Answer 1.

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2. How are the anti-acetylcholine receptor antibodies interfering with her normal skeletal muscle activity?

(Why are ACh receptors important for muscles to work correctly? What happens to muscle function when antibodies block ACh receptors?)

Answer 2.
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3. What is the significance of Jill’s distal arm flexor muscles not responding well to relatively low frequency stimulation? Why does repetitive nerve stimulation result in decreased strength of the muscle contractions?

Answer 3.

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4. How do the anticholinesterase drugs act to improve Jill's skeletal muscle function?

Answer 4.

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5. Why are nausea, abdominal cramps, diarrhea, and excessive salivation all side effects of the anticholinesterase drug she is taking?

Answer 5.
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6. Why is atropine beneficial in treating the gastrointestinal side effects mentioned in question #5?

Answer 6. ___________________________________________________________________________

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7. What is the significance of the enlarged thymus gland in diagnosing Jill with Myasthenia gravis? What is the thymus gland (what is its function)?

Answer 7.
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8. How will the corticosteroid prednisone benefit this patient?

Answer 8.
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9. Why must Jill undergo “plasmapheresis” when her symptoms become especially severe?

Answer 9.

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10. Jill's doctor advises her that she is at increased risk for respiratory failure. Explain why this is so.

Answer 10.

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11. In addition to being aware of respiratory problems, Jill's doctor also advises her to take her time when eating, especially when swallowing food, to avoid aspiration pneumonia. Why is this?

Answer 11.
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12. Jill’s doctor recommends that she stay on treatment for 6 months and then come back in for a re-check of her thymus with another CT scan of her chest. Why is this?

Answer 12.
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Could someone please explain the consequences of low lung compliance. Thank you

7. Having begun and enjoyed resistance training, Emily is looking at ways that she can get stronger. Describe the factors that increase the force of muscle contraction .

8. List and compare the three different types of muscle .

9. Describe the events that occur at the neuromuscular junction that result in a muscle contraction .

1)How the absorption of nutrients is affected if food moved through the small intestine at a faster rate?

2)Cholecystectomy is the surgical removal of the gallbladder. It is a common treatment of gallstones that cause obstruction of bile flow from the gallbladder into the duodenum. a) Explain why taking vitamin supplements would be required in such case. b) List the affected vitamins. c) What adjustments to their daily routine might they have to perform in order to accommodate their loss? Explain your answer

3)It is 11:00 in the morning and Nairobi didn’t take her breakfast yet. Passing by the cafeteria, a piece of cake caught her eye and she starts to have some salivation. a) What type of physiological process is triggered? b) Which phase of the reflex is being activated? c) List two events/things that will stimulate this phase. d) What happens during this phase and what is the reason this is happening?

describe gastric factors that promote emptying of stomach

Opioid analgesics mimic endogenous opioids by activating opioid receptors in the central and peripheral nervous systems to produce analgesia, respiratory depression, sedation and constipation. The product information for morphine indicates the following information:

“Chronic use of opioid analgesics may be associated with the development of physical dependence.”

Discuss this statement including a simple explanation (e.g. that could be understood by an individual without expertise in pharmacology) of what this statement means, examples of physical dependence effects that may be anticipated for opioids specifically, and ONE strategy that could be utilised to minimise the detrimental effects of physical dependence. Please clearly highlight the reasoning underlying your answers. (NOTE: this is worth 8 marks, so will require a detailed explanation)

3. The doctors are concerned that the fracture may have impacted on the epiphyseal plate. What is the epiphyseal plate and why is this important for Emily ?

4. Briefly outline the steps involved in fracture repair .

1. Briefly describe anorexia nervosa and how a diet lacking in nutrients may contribute to an increased risk of bone fracture .

2. Due to anorexia nervosa Emily is experiencing amenorrhea, or the absence of her menstrual cycle. How might this symptom be related Emily’s fracture ?

Chapter 1 –

Know and Understand the characteristics of living organisms.

Know and understand what is meant by the terms biology, histology, anatomy and physiology.

Know and understand what is meant by homeostasis, and what a failure of homeostasis can lead to.

Know and understand the various types of feedback mechanisms and examples of each.

Know and understand the various terminology regarding locations on the body.

Chapter 2 –

Know and understand what matter is

Know and understand what atoms are and what the structure of an atom is, including how many electrons are in each shell, what the atomic number and mass represent, what molecules are, what compounds are, what isotopes are, what ions are, etc.

Know and understand the differences between Ionic and Covalent Bonding

Know and understand what polar molecules are

Know and understand the special characteristic of water which make it important to living things

Know and understand the concepts of acids and bases including what each are and what the pH scale measures as well as what buffers are and what they do

Know what monomers and polymers are and what types of monomers make up each of the types of polymers and the reactions used to build up and break down polymers

Know and understand the basic structure of Proteins, Carbohydrates, Lipids and Nucleic Acids including unique characteristics of each, and what each is used for in living things.

Know and understand the different levels of organization of proteins and how shape is critical to their function, as well as what can cause the shape to change.

Know and understand the differences and similarities between DNA and RNA

Know and understand the composition, structure and function of enzymes including how to speed up reaction rates, etc.

Chapter 3 –

Know and understand what the cell theory states

Know and understand the differences between Eukaryotes and Prokaryotes

Know and understand the names of, the structure of, and the functions of each of the organelles

Know and understand the Endosymbiotic Hypothesis

Know and understand the basic structure, function, and characteristics of the plasma membrane including but not limited to the phopsholipid bilayer, the embedded proteins, the carrier and channel proteins, the glycocalyx, glycolipids, glycoproteins, etc.

Know and understand that structurally, the plasma membrane is composed of a bilayer of lipids.

Know and understand the concept that Cell membranes are said to be selectively permeable, and understand the various ways of getting things across the membrances including which require energy and which do not, and what special features or characteristics are necessary for each.

Know and understand the concept of tonicity and what happens to cells when placed in isotonic, hypotonic and hypertonic solutions.

Mitosis;

What happens during stages of mitosis and meiosis in plants and in animals.

Differences between Meiosis and Mitosis

What happens to DNA when goes from chromatin to form chromosomes.

Understand Diploid vs. Haploid and in Mitosis vs. Meiosis

Sequence of stages of meiosis and mitosis.

How does cell division differ between animal and plant cells?

Patterns of Inheritance;

Know what alleles, loci, genes and homologous chromosomes are.

Know the concepts of Mendel’s research and his law of segregation.

Know the differences between a phenotype, a genotype and a gamete.

Understand basic dominant/recessive concepts including being able to answer problems and do punnet squares, as well as understanding test crosses and monohybrid and dihybrid crosses.

Understand codominance, sex-linked inheritance, polygenic inheritance and incomplete dominance including being able to answer problem questions regarding them.

Understand what a karyotype is, how it is performed, and what it can be used for. Also, ways the cells can be obtained to create the karyotype. Know what non-disjunction means, and what monosomy and trisomy mean.

Cellular Respiration

Know and understand the basic concepts and principles of Cellular Respiration including the stages, overall reactions, and main concepts, and molecules participating in the reactions.

DNA

Know and Understand that DNA is the hereditary material found in cells, and know it’s structure, composition, and replication method and be able to compare it to RNA’s. Also know the different types of RNA and their function.

Be familiar with the flow of inherited information from DNA → RNA → protein. And know the concepts of transcription and translation including where each occurs and what each does.

Know the different types of Gene mutations and causes and affects of mutations.

Cancer;

Know the differences between normal cells and cancer cells, as well as how cancer develops and progresses.

Know what apoptosis refers to.

Know possible causes of and treatments for cancer, as well as how to protect yourself against cancer.

Chapter 5 -

Tissues –

Know and understand the differences between the various types of tissues covered including characteristic features and where you might expect to find the tissue.

Know and understand how we categorize the various types of epithelial tissues including shapes and numbers of layers including different types epithelial cells as well as exocrine and endocrine glands.

Know and understand the difference between Neurons and Neuroglial Cells including the basic anatomy of a neuron

Know and understand the differences between the 3 Types of Muscle Cells

Know and understand the differences between the various types of connective tissues covered including characteristic features and where you might expect to find it.

Integument –

Know and understand the functions of the integument

Know and understand the anatomy of the skin, including the various layers and their features

Know and understand the physiology of how nutrients are supplied to the skin

Know and understand what happens with injuries to the skin, including severe burns

Know and understand the different types of skin cancer

Bone and Skeletal System –

Know and understand the functions of the skeletal system

Know and understand the different parts of the Axial Skeleton that we went over in class

Know and understand the different parts of the Appendicular Skeleton that we went over in class

Know and understand the structure of bone, including the various types of cells in bone

Know and understand the special features and characteristics of bone

Know and understand the different parts of different types of bones

Know and understand the 2 methods of bone development that we discussed

Know and understand the process of the healing of a fracture

Know and understand the concept of bone remodeling

Know and understand what a bursa is and what bursitis is

Know and understand the differences between the various types of joints

Know and understand the various motions of the skeletal system

Know and understand the concept of how Osteoporosis develops

Know the anatomy of any specific bones we discussed in lecture

Nervous System –

Know and understand what a Neuron is and it’s anatomy

Know and understand what Neuroglial tissue is

Know and understand an Action Potential and how it occurs and travels down an axon, including refractory period

Know and understand white matter of CNS vs. Gray matter

Know and understand peripheral vs. central nervous system

Know and understand Saltatory vs. standard conduction

Know and understand synapses and neurotransmitters

Know and understand the different parts of the autonomic nervous system including Parasympathetic and Sympathetic Nervous Systems and Dual Innervation

Know and understand the different parts of human brain and especially the cerebrum, cerebellum and medulla oblongata and what the corpus callosum is

Know and understand the parts of a Reflex arc as well as the anatomy of the spinal cord and the dorsal and ventral roots as well as the dorsal root ganglion

Know and understand the anatomy involved in the processes of hearing and vision

Know and understand the physiology involved in the processes of hearing and vision, including being able to trace light and/or sound waves as they enter the body and are processed as sight or hearing.

Know and understand CSF and the various meninges of the brain and spinal cord

Know and understand the anatomy of spinal nerves and the concept of dermatomes

Muscles and Muscular System

Know and understand the anatomical structure of muscle fibers and muscles

Know and understand the cellular level features of muscle including sarcoplasmic reticulum and the relationship between thin and thick filaments

Know and understand the various layers of connective tissue covering in muscle fibler and muscles

Know and understand what is meant by the origin and the insertion of muscles

Know and understand the concept of how muscles get stimulated by nerves

Know and understand the principles of how a muscle contracts

Know and understand what is meant by the various types of muscle contraction are

Know and understand the differences between fast and slow twitch muscle fibers

Know and understand the concepts of recruitment, twitch, tetany, and fatigue

Know the anatomy of and the origin and insertion of the muscles we discussed in lecture

I am having a hard time understanding these two questions. If someone can explain that would be great.

1) Explain the steps that enables body to metabolize fat to ATP?

2) Write out the amount of ATP, NADH, FADH2 produced in each step of cellular metabolism of a glucose.

What are the effects of this disorder on perception of the stimulus and homeostasis?

Disorder - Otosclerosis

1. List 10 body mechanisms that are maintained in homeostasis by negative feedback. Why does positive feedback usually lead to disease or death? Describe two exceptions to positive feedback leading to disease or death.