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'''''What animal models are available for muscular dystrophy?'''''
'''''What animal models are available for muscular dystrophy?'''''


The mouse is probably the most widely used animal model for muscular dystrophy. Other animal models that have been utilised include the golden retriever dog and pigs. <ref name="PMID26140716"><pubmed>26140716</pubmed></ref> <ref name="PMID22968479"><pubmed>22968479</pubmed></ref>  <ref name="PMID27634466"><pubmed>27634466</pubmed></ref>  
The mouse is probably the most widely used animal model for muscular dystrophy. Other animal models that have been utilised include the golden retriever dog and pigs. <ref name="PMID26140716"><pubmed>26140716</pubmed></ref> <ref name="PMID22968479"><pubmed>22968479</pubmed></ref>  <ref name="PMID27634466"><pubmed>27634466</pubmed></ref>


==Lab 6 Assessment==
==Lab 6 Assessment==

Revision as of 16:44, 22 September 2016

Student Information (expand to read)  
Individual Assessments
Mark Hill.jpg

Please leave this template on top of your student page as I will add your assessment items here.

Beginning your online work - Working Online in this course

  1. Make your own page.
    1. Log-in to the embryology website using your student ID and Zpass.
    2. Click your student number (shown in red at the top right of the screen following log-in)
    3. Create page using the tab at the top of the page, and save.
  2. Add the following to the top of your page exactly as shown - {{ANAT2341Student2016}}
  3. How would you identify your Type in a group and add to your page.
  4. What was the most interesting thing you learnt in the fertilisation lecture?


If you have done the above correctly your ZID should be blue and not red on this page link - ANAT2341 2016 Students.


Here is the example page I made in Lab 1 Student Page. With a few more explanatory notes.

Click here to email Dr Mark Hill

Editing Links: Editing Basics | Images | Tables | Referencing | Journal Searches | Copyright | Font Colours | Virtual Slide Permalink | My Preferences | One Page Wiki Card | Printing | Movies | Language Translation | Student Movies | Using OpenOffice | Internet Browsers | Moodle | Navigation/Contribution | Term Link | Short URLs | 2018 Test Student
Lab 1 Assessment - Researching a Topic
In the lab I showed you how to find the PubMed reference database and search it using a topic word. Lab 1 assessment will be for you to use this to find a research reference on "fertilization" and write a brief summary of the main finding of the paper.
  1. Add a new Sub-heading "Lab 1 Assessment" (without the quotes).
  2. Search the database for a reference on "fertilisation" published in the last 5 years.
    1. It must be a research article not a Review.
    2. The full paper must be available online, not just the abstract.
  3. Add a link to this reference using its PMID using this code <pubmed>XXXXX</pubmed> replacing the Xs with just the PMID number (no text).
  4. Under the reference write a short summary of the papers main findings.
    1. Only 1-2 paragraphs.
    2. Must not be a copy of the paper abstract.
  5. Save and you are done.

PubMed logo.gif

Lab 2 Assessment - Uploading an Image
  1. Upload a research image using the guide information below. The image uploaded for your individual assessment can relate to your project or from fertilisation to week 3 of development (upload only a single image).
  2. Add that image to your own individual page (see Images) including an image title and its reference link.
  3. No two students should upload the same image, check new images before you upload.
  4. No student can delete an image once uploaded, please contact me by email with the image address and I will delete (with no penalty, just glad to help out).


2016 Group Project Topic - Signaling in Development

OK you are now in a group

  1. Go to the blank group page and add a topic that interests you along with your student signature.
  2. No two groups can do the same topic, but at this stage the final topic has not yet been decided (next week).

Initially the topic can be as specific or as broad as you want.


Chicken embryo E-cad and P-cad gastrulation.png

Chicken embryo E-cad and P-cad gastrulation[1]

References

  1. <pubmed>27097030</pubmed>
Lab 4 Assessment - GIT Quiz

ANAT2341 Quiz Example | Category:Quiz | ANAT2341 Student 2015 Quiz Questions |

Design 4 quiz questions based upon gastrointestinal tract. Add the quiz to your own page under Lab 4 assessment and provide a sub-sub-heading on the topic of the quiz.

An example is shown below (open this page in view code or edit mode). Note that it is not just how you ask the question, but also how you explain the correct answer.

Lab 5 Assessment - Course Review
Complete the course review questionnaire and add the fact you have completed to your student page.
Lab 6 Assessment - Cleft Lip and Palate
  1. Identify a known genetic mutation that is associated with cleft lip or palate.
  2. Identify a recent research article on this gene.
  3. How does this mutation affect developmental signalling in normal development.
Lab 7 Assessment - Muscular Dystrophy
  1. What is/are the dystrophin mutation(s)?
  2. What is the function of dystrophin?
  3. What other tissues/organs are affected by this disorder?
  4. What therapies exist for DMD?
  5. What animal models are available for muscular dystrophy?
Lab 8 Assessment - Quiz
A brief quiz was held in the practical class on urogenital development.
Lab 9 Assessment - Peer Assessment
  • This will form part of your individual assessment for the course.
  • Each student should now look at each of the other Group projects in the class.
  • Next prepare a critical assessment (should include both positive and negative issues) of each project using the project group assessment criteria.
  • This assessment should be pasted without signature on the top of the specific project's discussion page. (minimum length 3-5 paragraphs/project)
  • This critical assessment should also be pasted on your own student page.
  • Each student should therefore have 5 separate reports pasted on their own page for this assessment item.
  • Length, quality and accuracy of your reports will be part of the overall mark for this assessment.
    • there will be a greater loading on this than simple question assessments.
Lab 10 Assessment - Stem Cells
As part of the assessment for this course, you will give a 15 minutes journal club presentation in Lab 10. For this you will in your current student group discuss a recent (published after 2011) original research article (not a review!) on stem cell biology or technology.
Lab 10 - Stem Cell Presentations 2016
Group Mark Assessor General Comments

Group 1: 15/20

Group 2: 19/20

Group 3: 20/20

Group 4: 19/20

Group 5: 16/20

Group 6: 16/20

The students put great effort in their presentation and we heard a nice variety of studies in stem cell biology and regenerative medicine today. The interaction after the presentation was great.

As general feedback I would like to advise students to:

  • Never discuss M&M as a separate section in journal clubs. I gave this advice prior to the lab, but still most groups did talk through the M&M section.
  • Do not use your slides as cheat sheets, avoid text on slides, know what messages you need to get across, use images to illustrate these
  • Engage with your slides. Talk through them. Point at panels. Gauge your audience’s understanding by making eye contact with them
  • Avoid using abbreviations. Most people do not readily understand these and will lose track
Lab 11 Assessment - Heart Development
Read the following recent review article on heart repair and from the reference list identify a cited research article and write a brief summary of the paper's main findings. Then describe how the original research result was used in the review article.

<pubmed>26932668</pubmed>Development

ANAT2341Lectures - Textbook chapters  
Lecture (Timetable) Textbook - The Developing Human Textbook - Larsen's Human Embryology
Embryology Introduction Introduction to the Developing Human
Fertilization First Week of Human Development Gametogenesis, Fertilization, and First Week
Week 1 and 2 Second Week of Human Development Second Week: Becoming Bilaminar and Fully Implanting
Week 3 Third Week of Human Development Third Week: Becoming Trilaminar and Establishing Body Axes
Mesoderm Fourth to Eighth Weeks of Human Development Fourth Week: Forming the Embryo
Ectoderm Nervous System Development of the Central Nervous System
Early Vascular Cardiovascular System Development of the Vasculature
Placenta Placenta and Fetal Membranes Development of the Vasculature
Endoderm - GIT Alimentary System Development of the Gastrointestinal Tract
Respiratory Respiratory System Development of the Respiratory System and Body Cavities
Head Pharyngeal Apparatus, Face, and Neck Development of the Pharyngeal Apparatus and Face
Neural Crest Nervous System Development of the Peripheral Nervous System
Musculoskeletal Muscular System Development of the Musculoskeletal System
Limb Development of Limbs Development of the Limbs
Renal Urogenital System Development of the Urinary System
Genital Urogenital System Development of the Urinary System
Stem Cells
Integumentary Integumentary System Development of the Skin and Its Derivatives
Endocrine Covered through various chapters (see also alternate text), read head and neck, neural crest and renal chapters.
Endocrinology Textbook - Chapter Titles  
Nussey S. and Whitehead S. Endocrinology: An Integrated Approach (2001) Oxford: BIOS Scientific Publishers; ISBN-10: 1-85996-252-1.

Full Table of Contents

Heart Cardiovascular System Development of the Heart
Sensory Development of Eyes and Ears Development of the Eyes
Fetal Fetal Period Fetal Development and the Fetus as Patient
Birth and Revision
Additional Textbook Content - The following concepts also form part of the theory material covered throughout the course.
  1. Principles and Mechanisms of Morphogenesis and Dysmorphogenesis
  2. Common Signaling Pathways Used During Development
  3. Human Birth Defect
ANAT2341 Course Timetable  
Week (Mon) Lecture 1 (Mon 1-2pm) Lecture 2 (Tue 3-4pm) Practical (Fri 1-3pm)
Week 2 (1 Aug) Introduction Fertilization Lab 1
Week 3 (8 Aug) Week 1 and 2 Week 3 Lab 2
Week 4 (15 Aug) Mesoderm Ectoderm Lab 3
Week 5 (22 Aug) Early Vascular Placenta Lab 4
Week 6 (29 Aug) Gastrointestinal Respiratory Lab 5
Week 7 (5 Sep) Head Neural Crest Lab 6
Week 8 (12 Sep) Musculoskeletal Limb Development Lab 7
Week 9 (19 Sep) Renal Genital Lab 8
Mid-semester break
Week 10 (3 Oct) Public Holiday Stem Cells Lab 9
Week 11 (10 Oct) Integumentary Endocrine Lab 10
Week 12 (17 Oct) Heart Sensory Lab 11
Week 13 (24 Oct) Fetal Birth and Revision Lab 12

ANAT2341 2016: Moodle page | ECHO360 | Textbooks | Students 2016 | Projects 2016

Lab 7 Assessment

Muscular Dystrophy

What is/are the dystrophin mutation(s)?

The dystrophin gene mutations cause both Duchenne (DMD) and Becker (BMD) muscular dystrophies. The dystrophin gene is the longest known human gene of 2.4 Mb’s on chromosome X, and it codes for the protein dystrophin which is expressed in all striated skeletal, smooth and cardiac muscle cells. There are also isoforms expressed in the retina and brain cells. The dystrophin mutations are usually either: deletions of one or more exons (approximately 65%); duplications of exons (approximately 10%); or single point mutations (approximately 15%). If such mutations are out-of-frame they lead to severe deficiency of dystrophin causing DMD disease. The less severe BMD is usually a result of in-frame mutations. [1] These mutations are recessive and affect approximately 1 in 3500 to 5000 males born worldwide. [2]

What is the function of dystrophin?

The dystrophin protein is a component of the large protein complex: the dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma (the cell membrane of skeletal muscle fibre cells) binds to surrounding ligands and to dystrophin inside the cell. [3] This complex is responsible for stabilising the sarcolemma by integrating the components of the cytoskeleton of muscle cells. These interactions of the dystrophin protein with components such as the actin filaments and microtubules of the muscle cell are mediated by dystrophin’s four main functional domains. It has also been found that dystrophin may bind membrane phospholipids to further support its stabilisation of the sarcolemma. [2]

What other tissues/organs are affected by this disorder?

The heart has been found to be affected by some forms muscular dystrophy, including cardiac complications such as heart failure and/or arrhythmias. [4] Moreover, respiratory failure due to the breathing muscles becoming weak severely limits the lifespan of DMD patients. [2]

What therapies exist for DMD?

Extensive research surrounds the use of gene replacement therapy for all mutation-types of DMD. However, the extremely long nature of the dystrophin gene renders it difficult to replace and many other challenges remain such as with the nature of the viral vectors used in gene replacement. A number of other genetics-based approaches are being investigated such as gene product modifiers (exon-skipping) and utrophin modulation strategies. [5] [2] Pharmacological treatment for DMD involves administration of corticosteroids for suppression of the associated inflammation in the muscles, however this has significant side effects and questionable therapeutic efficacy. [6]


What animal models are available for muscular dystrophy?

The mouse is probably the most widely used animal model for muscular dystrophy. Other animal models that have been utilised include the golden retriever dog and pigs. [2] [7] [8]

Lab 6 Assessment

Identify a known genetic mutation that is associated with cleft lip or palate

The SATB2 gene mutation has been shown to be associated with Non-syndromic cleft lip with or without cleft palate.

Identify a recent research article on this gene

Xiaoying Zhao, Zhihu Qu, Jennifer Tickner, Jiake Xu, Kerong Dai, Xiaoling Zhang The role of SATB2 in skeletogenesis and human disease. Cytokine Growth Factor Rev.: 2014, 25(1);35-44 PubMed 24411565

How does this mutation affect developmental signalling in normal development

SATB2 is located at the chromosome position 2q33.1 and encodes an AT-rich sequence binding protein of 733 amino acids. This protein (Satb2) helps to regulate the transcription of large domains of chromatin and is the first cell-type-specific transcription factor to do so. [9] More specifically, Satb2 carries out transcriptional regulation directly through modulating chromatin remodelling by binding AT-rich sequences in nuclear matrix-attachment regions (MARs) of DNA. It also indirectly, through association with other transcription regulators, modulates cis-regulation elements to control the expression of target genes and downstream biological processes. SATB2 plays a crucial role in development and tissue regeneration, especially in craniofacial development and patterning, formation of the palate, and differentiation and maturation of osteoblasts. It also appears to contribute to development of the central nervous system -particularly the formation of the corpus callosum and pons-, as well as cancer prognosis and development, and the regulation of immune function. [10] Thus mutation of this gene will lead to perturbations in these functional roles it plays in development.

Lab 5 Assessment

Completed ANAT2341 Lab 5 - Course Feedback Questionnaire

Lab 4 Assessment

Gastrointestinal Tract Quiz

1 True or false: Atresia, stenosis and duplication are types of lumen abnormalities that may affect the continuity of the gastrointestinal tract.

  true
  false

2 What does the endoderm germ layer contribute to the early gastrointestinal tract?

  The epithelium, associated glands, and associated organs.
  The mesentry, connective tissues and epithelium.
  The enteric nervous system.
  The mesentry, connective tissues, smooth muscle and blood vessels.

3 Which of the following structures are part of the foregut division of the gastrointestinal tract in the adult? (There may be multiple correct answers)

  The descending colon, rectum, and superior part of the anal canal
  The pharynx, stomach and upper duodenum
  The respiratory tract, liver, and gallbladder
  The pharynx, stomach and lower duodenum

4 Which of the following set of events occurs first in the stages of liver development?

  Proliferation of the epithelial cord enmeshing stromal capillaries
  Differentiation of cells, liver stroma formed from septum transversum and hepatic trabeculae formed from the hepatic diverticulum
  Enlargement of liver to prevent heart and lungs from descending
  Development of the hepatic diverticulum


Lab 3 Assessment

Mark Hill 31 August 2016 - Lab 3 Assessment Quiz - Mesoderm and Ectoderm development. All correct, well done! Assessment 5/5

Lab 2 Assessment

Roles and Regulation of SOX2 in Blastocyst Formation

Roles and Regulation of SOX2 in Blastocyst Formation[11]

Mark Hill 29 August 2016 - All information Reference, Copyright and Student Image template correctly included with the file and referenced on your page here. Note though, that the reference subheading in the file summary box should have just <pubmed>25340657</pubmed> to display the reference correctly. You only include the ref name for a citation as shown correctly on your page here. Assessment 5/5

Lab 1 Assessment

<pubmed>25818081</pubmed>

Main Findings: This investigation compared 121 infertile patients, who were diagnosed with Inflammatory Bowel Disease (IBD) preceding their first IVF cycle, with 470 non-IBD infertile patients receiving IVF. Of the women with IBD, 71 had ulcerative colitis, 49 had Crohn’s disease, and 1 was unclassified. A majority of the IBD patients were not taking any medications during their IVF treatment. Non-IBD and IBD patients had similar age, parity and follicle-stimulating hormone levels on cycle day three. One characteristic that differed slightly was BMI, which was lower in those with ulcerative colitis.

Overall it was found that infertile women with IBD had similar rates of pregnancy and live births after IVF as those of non-IBD infertile women. Cumulative live birth rates were also similar. The study also concluded that it was more common among IBD patients, particularly those with Crohn’s disease, to experience tubal factor infertility as compared to non-IBD patients. Furthermore, live birth rates after IVF treatment were not influenced by prior surgery in patients with Crohn’s disease or ulcerative colitis. The results of this study were impacted by several limitations such as: its retrospective approach; confounding factors due to unmeasured variables like activity status; inability to obtain information regarding tobacco usage; and limited generalisability due to the cohort selection procedure.


Mark Hill 18 August 2016 - You have added the citation correctly and written a good brief summary of the article findings. An interesting paper looking at any possible associations between IVF success and other existing medical conditions, note also that the authors have noted the limitations of their research study findings. Assessment 5/5

Lab Attendance

Z3462474 (talk) 14:34, 5 August 2016 (AEST)

Z3462474 (talk) - I made a mistake in the second lab and did not do four squiggles (only three)

Z3462474 (talk) 13:13, 19 August 2016 (AEST)

Z3462474 (talk) 13:07, 26 August 2016 (AEST)

Z3462474 (talk) 13:06, 2 September 2016 (AEST)

Z3462474 (talk) 13:08, 9 September 2016 (AEST)

New Sub-Heading

Internal Link

https://embryology.med.unsw.edu.au/embryology/index.php/ANAT2341_Lab_1

Lab 1

Referencing

fertilization

PMID 27486480

Student Page

  1. <pubmed>26295289</pubmed>
  2. 2.0 2.1 2.2 2.3 2.4 <pubmed>26140716</pubmed>
  3. <pubmed>25086336</pubmed>
  4. <pubmed>27340611</pubmed>
  5. <pubmed>26140505</pubmed>
  6. <pubmed>27621596</pubmed>
  7. <pubmed>22968479</pubmed>
  8. <pubmed>27634466</pubmed>
  9. <pubmed>26605140</pubmed>
  10. <pubmed>24411565</pubmed>
  11. <pubmed>25340657</pubmed>