User:Z5020373
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| Individual Assessments | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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
Click here to email Dr Mark Hill | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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.
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| Lab 2 Assessment - Uploading an Image | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
OK you are now in a group
Initially the topic can be as specific or as broad as you want. Chicken embryo E-cad and P-cad gastrulation[1] References
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| Lab 4 Assessment - GIT Quiz | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Lab 7 Assessment - Muscular Dystrophy | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Lab 8 Assessment - Quiz | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| A brief quiz was held in the practical class on urogenital development. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lab 9 Assessment - Peer Assessment | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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.
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| 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 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Team role: Resource investigator
After reading about the various team roles, I have concluded that I am probably the Resource Investigator in any team situation. I am usually very enthusiastic about new projects, and I like to search about the internet for articles or research papers. By the end of it I find myself hoarding all these articles into a folder. I do like to build on ideas rather than create them which is something I identified with in the description. I always have a positive attitude and I like connecting people because it makes me happy to see everyone working together.
Fertilisation
The most interesting thing I found about this lecture would probably be learning about the polar bodies. Up until this lecture I never really gave it much thought as to where the extra DNA from meiosis goes, so finding about the existence of not 2, but 3 polar bodies was really interesting. I also thought that the Zona Pellucida protein (ZP2) is a very fascinating but smart mechanism to make human spermatozoa species specific.
| Mark Hill 4 August 2016 - Thank you for adding this content before the lab. I would suggest that rather than using a template that you simply paste on this current page with separate subheadings for each lab/assessment item. Also please no names, just your student number. |
Lab 1
Lab Attendance
Z5020373 (talk) 14:36, 5 August 2016 (AEST)
Lab Demonstrations
External Link
Internal Link
https://embryology.med.unsw.edu.au/embryology/index.php/2011_Lab_1
Referencing
PMID 27486280
Lab 1 Assessment
<pubmed>27123200</pubmed>
This research article explores whether choosing to a conduct embryo transfer (ET) on a weekend or weekday will affect the success of clinical pregnancy in IVF procedures. In the study, ET transfers were performed on either weekdays or weekends in patients with similar clinical characteristics, such as age, body-mass index and duration of infertility. Clinical pregnancy was determined using blood pregnancy tests and ultrasound examination and was defined as the “presence of a gestational sac with a foetal heart beat.” After the ETs, the authors found that there was an overall 42.8% success rate of clinical pregnancy in patients from both groups, with a 14.6% increase in the pregnancy rate when weekend ETs where compared to weekday ETs. The study however, did not examine any possible reasons to explain this increase in implantation rate although a few potential factors were discussed from previous findings in this area of research. These included endometrial receptivity which occurs 5 days after the post-ovulatory progesterone surge. The article mentioned that uterine receptivity and implantation could be affected by the junctional zone. The extent of junctional zone contractility differs throughout the ovarian cycle and an increased contractility just before ET has been previously shown to significantly decrease the likelihood of successful implantation. Since weekends are more relaxing than weekdays they suggest a possible correlation between that and reduced junctional zone contractions leading to easier ETs. Therefore from this study, it was concluded that ETs performed during the weekends are more successful than those performed during the weekdays identifying a potential factor that can improve ETs in IVF situations.
| Mark Hill (talk) 14:24, 15 August 2016 (AEST) - This is a good summary of a paper that looks at potential environmental/endocrine effects on reproductive fertility. You needed to put the reference at the top rather than just the PMID number, fix this and you can get this full mark for the exercise.
Mark Hill 18 August 2016 - You did not fix, so I have adjusted the final mark. |
Assessment 4/5 |
Lab 2
Lab Attendance
Z5020373 (talk) 14:41, 12 August 2016 (AEST)
Lab 2 Assessment
Chicken embryo amion fold development[1]
| Mark Hill 14:24, 15 August 2016 (AEST) - Very good, the image relates to early development and contains the reference, copyright and student template. (5/5) |
Lab 3
Lab Attendance
Z5020373 (talk) 13:53, 19 August 2016 (AEST)
| Mark Hill 31 August 2016 - Lab 3 Assessment Quiz - Mesoderm and Ectoderm development. | Assessment 2.5/5 |
Lab 4
Lab Attendance
Z5020373 (talk) 13:02, 26 August 2016 (AEST)
Lab 4 Assessment
Take the Quiz
Make your selection for all questions before clicking submit.
Lab 5
Lab Attendance
Z5020373 (talk) 13:11, 2 September 2016 (AEST)
Lab 5 Assessment
Questionaire completed and submitted Z5020373 (talk) 13:17, 9 September 2016 (AEST)
Lab 6
Lab Attendance
Z5020373 (talk) 13:05, 9 September 2016 (AEST)
Lab 6 Assessment
<pubmed>25382630</pubmed> Cleft palate arises when the bilateral palatal shelves fail to fuse. Many genetic and environmental factors have been identified to contribute to this deformity. One genetic mutation associated with cleft palate is the loss transforming growth factor-beta receptor (TGF-βR). A recent article by Hill et al. demonstrated that loss of TGF-βR3 reduced the expression of several ligands and receptors in the TGF-β/BMP family, including three TGF-β ligands and BMP2. During embryonic development, these molecules are involved in cell growth and differentiation.
A loss of TGF-β/BMP signaling, by receptor loss was found to be associated with cleft palate formation due to aberrant cell cycle progression and altered gene expression. Furthermore changes to TGF-β/BMP signaling also interrupted vascular development and remodeling as well as osteogenic differentiation during palate formation. TGF-βR3 is therefore essential for maintaining the expression of TGF-β and BMP molecules and without this receptor processes of palatal shelf elongation, elevation and fusion are disrupted leading to cleft palate.
Lab 7
Lab Attendance
Z5020373 (talk) 13:05, 16 September 2016 (AEST)
Lab 7 Assessment
1. What is/are the dystrophin mutation(s)?
- The dystrophin gene is located on the short arm of the X chromosome at position 21.2. [2]
- It is the largest gene found in nature spanning 1.5% of the X-chromosome which is about 2.5 Mb of genomic sequence. [3]
- Its size could explain why it is so susceptible to spontaneous mutations.
- Encodes for Dystrophin protein.
- Mutations such as large deletions (60-70% of DMD cases), large duplications (10% of DMD cases) and point mutations (15-30% of DMD cases) can occur resulting in gene inactivation (therefore loss of function).[4]
2. What is the function of dystrophin?
- Dystrophin is part of a protein complex that work together to strengthen muscle fibers and protect them from injury as muscles contract and relax.
- Dystrophin complex acts as an anchor, connecting each muscle cell's structural framework (cytoskeleton) with the lattice of proteins and other molecules outside the cell (extracellular matrix).
- May also play a role in cell signaling by interacting with proteins that send and receive chemical signals e.g. in alpha-syntrophin.[5]
3. What other tissues/organs are affected by this disorder?
- Muscle (skeletal, cardiac and smooth): fatigue, difficulty with motor skills
- Respiratory system: pneumonia
- Cardiac system: cardiac myopathy
- Central Nervous system (CNS): neurobehavioural disorders e.g. ADHD and dyslexia [6]
4. What therapies exist for DMD?
- There is no cure available for DMD, and the current interventions are based on preventing further muscle wasting and management of symptoms and complications
- Treatments include:
- Physical therapy
- Orthopedic appliances
- Medication:
- Two corticosteroids mainly used in DMD treatment are Prednisone/Prednisolone and Deflazacort, an oxazoline derivative of prednisolone, administered by two common regimens: daily and intermittent [7]
- Prednisone and prednisolone show an anti-inflammatory effect
- Deflazacort acts on muscle regeneration and differentiation
- Future could include:
- Cell-based therapies using stem cells to replace dystrophin gene (a potential cure).
- Gene therapies to deliver a therapeutic gene to skeletal and cardiac muscle, in order to restore the dystrophin protein PMID [8]
- A study by Nelson et al. in 2016, showed that in vivo CRISPR-Cas9–mediated dystrophin restoration in mdx mouse model of DMD removed the mutated exon 23 from the dystrophin gene and improved muscle structure and function.[9]
5. What animal models are available for muscular dystrophy?
- The most widely used animal model for DMD is the mdx mouse, which has a spontaneous point mutation in exon 23 that causes the absence of the dystrophin protein in the muscle.
- However, other animal models inlcude:[10]
- GRMD dog - Dystrophin-deficient dog
- HFMD cat - Dystrophin-deficient cat (clinically a poor model)
- This animal model allows testing ans screening of potential treatments and without these animal models, and without these animal models we would not have any known therapies today
- For example, mdx in vivo studies have led to U.S. FDA approval of Exondys 51 (eteplirsen) injection, the first drug approved to treat patients with Duchenne muscular dystrophy (DMD). Exondys 51 is specifically indicated for patients who have a confirmed mutation of the dystrophin gene amenable to exon 51 skipping, which affects about 13 percent of the population with DMD. [11]
References
- ↑ <pubmed>24647352</pubmed>
- ↑ Converse, P.J. (2016) MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD OMIM http://www.omim.org/entry/310200
- ↑ <pubmed>11917091</pubmed>
- ↑ https://www.duchenneconnect.org/understanding-genetic-testing/types-of-mutations-in-the-dystrophin-gene.html
- ↑ <pubmed>12082140</pubmed>
- ↑ <pubmed>13947981</pubmed>
- ↑ <pubmed>26457695</pubmed>
- ↑ <pubmed>7683332</pubmed>
- ↑ <pubmed>25123483</pubmed>
- ↑ <pubmed>11917091</pubmed>
- ↑ http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm521263.htm

