Talk:2011 Group Project 10

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Revision as of 11:37, 29 September 2011 by Z3293267 (talk | contribs)

Group 10: User:z3332327 | User:z3332629 | User:z3332824 | User:z3330313

Plagiarism

--Mark Hill 07:35, 30 September 2011 (EST) Currently all students originally assigned to each group are listed as equal authors/contributors to their project. If you have not contributed the content you had originally agreed to, nor participated in the group work process, then you should contact the course coordinator immediately and either discuss your contribution or request removal from the group author list. Remember that all student online contributions are recorded by date, time and the actual contributed content. A similar email reminder will be sent to all current students.

Please note the Universities Policy regarding Plagiarism

In particular this example:

"Claiming credit for a proportion of work contributed to a group assessment item that is greater than that actually contributed;"

Academic Misconduct carries penalties. If a student is found guilty of academic misconduct, the penalties include warnings, remedial educative action, being failed in an assignment or excluded from the University for two years.

2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip



Peer Review

Peer Review

This wiki still feels like what Mark Hill mentioned earlier, like a backbone for content to be built upon. The foundations are there, but still very incomplete. Comparing the sections, some have done a lot of effort, others not so much, and it is very visible.


  • Should start the wiki with this code:

<wiki>=Duchenne Muscular Dystrophy (DMD)= </wiki>

then

<wiki>==Introduction == </wiki>

  • History is far too text heavy and it shouldn't be like that, as this makes it a chore to read. A timeline would be better suited and summarise into the timeline.
  • Should be more student drawn images, since there's only one. If getting pictures is hard to find, then draw your own.
  • The one student drawn image is not referenced correctly, needs the disclaimer info.
  • Diagnosis needs to be expanded. There is 300+ articles, there has to be more info or an image to be found.
  • Pathogenesis needs to be expanded, maybe an image.
  • Signs and symptoms need more referencing. Also, just leave the title as Signs and Symptons.
  • Treatment needs to be expanded on. It isn't any good just listing drugs into a table.
  • Split the Treatment to include Managment and give a separate section for Current Research.
  • Glossary is incomplete.


--z3293267 10:37, 29 September 2011 (EST)


Group 10:

Clear and conscise but still needs more work breaking up the long slabs of writing. Perhaps more subheadings esp. in the first sections.

More pics are needed to break up the work.

Treatment includes a good table.

Glossary needs a bit of work and expanding on the explanations.

References needs to be fixed as there is duplications of references.

z3332178 =]


Peer Review

Some places for improvement.

  • Double spacing of paragraphs looks awkward.
  • History section would benefit by placing the information into a timeline rather than paragraphs as it is a bit hard to follow.
  • Epidemiology section could be expanded and written in more flowing way rather than long sentences.
  • Needs more images, lots of large blocks of text. And images need to be formatted into the text as formatting currently looks awkward.
  • Further Research could be added, for example papers or groups that are researching as currently it is just being referred to.
  • Glossary could be expanded.
  • References need to be fixed. There are many that are just a web address. Full citation is needed. Double ups need to be fixed. Also perhaps research from MORE sources is necessary as there is only a few when you cut out the double references.

--z3217043 10:02, 29 September 2011 (EST)

Group 10 Peer Review

  • Headings are well organised and structured
  • Too much text in history section-a table or image would be good
  • Information is there however images/graphs/tables would help break up large chunks of text
  • Diagnosis seems brief-perhaps merge with treatment section?
  • Signs and symptoms could be expanded
  • Great table in treatment
  • Needs to be proof read-grammar and spelling mistakes
  • Double referencing
  • Glossary needs to be extended

--Fleur McGregor 09:54, 29 September 2011 (EST)


Group 10

  • Introduction – Great intro, well referenced apart from the first paragraph.
  • History has a lot of text, a timeline could work well here and also an image if possible just to break up the text.
  • Epidemiology – well referenced and structured, text could be broken up but that’s nothing major as it’s a small section.
  • Aetiology – A link between the image provided and the text would work well, and also the image could be formatted on the right of the page, to add to continuity and flow as other images are located on the right.
  • Signs and Symptoms – Needs to be more information here, a description of each symptom and maybe its direct causes.
  • Clinical manifestations – need a link between the image and the text, other than that it is well referenced and easy to understand.
  • Treatment – table formatting is great and information is helpful
  • Glossary – needs to include more terms form the page.
  • There’s some doubling up in the reference section that needs to be fixed, other than that good job.

--z3331469 08:25, 29 September 2011 (EST)

peer review:


  • Intro: One of the very few groups to use an image of the disease in the intro, well done! Like how you have referred to Duchenne’s as DMD in brackets initial heading to avoid confusion.
  • History: A lot of writing, no techniques to break it up, which will basically bore your reader. Use a timeline perhaps.
  • Epidemiology: Subheading will benefit this segment.
  • Aetiology: The image could use some colour, but it is still very well done. It would be worthy to refer to the drawing as your explaining the genetics, just to bring them together.
  • Pathogenesis: Very brief, not very informative and lacking subheadings or an image. Hopefully this will be fixed.
  • Signs and Symptoms:Poorly done. Dot-points are a good way to initiate the writing but not appropriate as a final copy. Needs more description and research.
  • Clinical manifestations:

The image used is excellent but needs more explanation.

  • Diagnosis:Very short, looks incomplete and there’s only one reference for the entire section.
  • Treatment: Well done, I like the colour and the table structure, makes it much easier to understand.
  • Glossary: Incomplete, much more terminology has been used.
  • References: Double referencing is a big problem here.
  • Text:image ratio: could use more images.

--z3290270 02:16, 29 September 2011 (EST)


  • history should be broken up with dates on side or within a table.
  • how about a short summary table to use for epidemiology
  • no picture of Guillaume Benjamin Amand Duchenne?
  • no copyright permission for the drawn image in genetics.
  • pathogenesis seems very small for a section that is very important.
  • describe how the signs and symptoms impact on patients to show the significance of the disease.
  • diagnosis needs a lot of work, this section is very important. also very little references in this section.
  • not enough pictures to accompany the text
  • very short glossary
  • multiple references of same articles

--Jasjit Walia 00:17, 29 September 2011 (EST)

Peer Review for Group 10

  • The introduction was well written, however the picture in it is not referenced as instructed. Please fix that then your intro is perfect.
  • In the history section, the first sentence is oddly placed, even though it’s informative, please put that somewhere where it will flow in the paragraph.
  • The history is verbose, please re write so it’s easier to follow.
  • Epidemiology needs to be reevaluated as some sentences are not constructed properly
  • Etiology has sound information but the paragraphs are not structured so it flows. It also seems repetitive.
  • The picture in the etiology can have its caption better structured
  • Pathogenesis should include some component of genetics to explain how the abnormalities bring about the pathogenesis in the genetics level.
  • Explanation of how the signs and symptoms comes along from the dystrophy should be explained
  • The image of the spine is not completely referenced as url of the image and the page must also be given
  • Information under ‘respiratory problems’ and smooth muscle needs some reviewed as it includes words there that shouldn’t be present
  • The diagnosis section could be expanded upon so it includes more information on the details of how it is detected, and images should complement the tools to diagnose the condition.
  • An introduction to the table should be given. Having the table there by itself doesn’t look good.
  • Further explanation should be made on the type of physical activity that would be made for therapy
  • Glossary should be expanded
  • There is repetitive referencing; it should be reformatted to fit in the way multiple references is made.
  • You need much more pics as without the pics the page looks word heavy.

--Z3291317 23:57, 28 September 2011 (EST)

Group 10

Introduction: Good introduction. The picture could be a bit bigger. Also, a picture of the chromosome would be great.

History and epidemiology: Both sections are clear and flow well. Pictures are needed to break up the text though.

Genetics: The image is great and the text is well written.

Pathogenesis: The pathogenesis is well explained. Again, pictures would be good in this section to improve it.

Clinical manifestations: Good section. Clear, easy to understand.

Diagnosis: This section might need some more detail added. You could explain how each of the diagnostic tests work

Current and future treatment: This section is worded well but looks a little bit disjointed. I think it would be better having it either all in text or all in the table. --z3291324 23:27, 28 September 2011 (EST)


Group 10 Peer Review

  • Interesting introduction, with a good amount of information. The history is also quite well outlined, although as you have no doubt seen with many of the other groups by now, a timeline woud be adequate in the history section (this also helps to break the text up and help us get a "break" from large blocks of text!)
  • Epidemiology section is short but sweet - all the required information is there and summarised well. Perhaps mention the rate of mortality? (although this may be obvious)
  • The student-drawn image in the aetiology section doesn't have your own copyright notice, so this should be added to the description. There also might be more to write in this section, but only if you wish to seek out the information. Diagrams can be helpful in summarising excessively detailed material.
  • Pathogenesis simply needs to be longer; a lot can be written on this section and there should also be the use of diagrams throughout. Explain why the pathogenesis of DMD is so destructive; it has more than just the function of securing the sarcolemma to the cytoskeleton and is also present in other parts of the body, so make sure you explore this completely! :) (for example, dystrophin which is affected also is found in different areas of the body which may help explain some of the other symptoms of DMD).
  • General signs and symptoms could have a diagram to assist in the signs and symptoms.
  • Clinical manifestations and complications could have more written and explaining some of the other symptoms that aren't purely based upon the muscle damage observed in DMD.
  • Diagnosis needs to have more written, especially images regarding the methods of imaging and therapy.
  • Treatment; and Current and Future Prospects are different sections and shouldn't be integrated. Think carefully about the implications that current and future directions of research will have on this disease - they are huge! Try to write more and make an individual section on current and future prospectives of research for DMD; as you know from your research so far, DMD is a very important disease requiring a lot of research.
  • Glossary is incomplete; References have a lot of repeats, but these are problems that are common to almost all projects.
  • Generally, you just need to find better ways of altering the information in your project. Try to add tables and images to help break up the information and make sure you've discussed all the sections in the guidelines for the project properly. Keep at it! :) There are also some obvious typos (&&&)?

--Leonard Tiong 22:29, 28 September 2011 (EST)

Group 10:

•History might work better in a timeline, just to break up the text as the beginning of the page looks a little overwhelming with text.

•Make sure that all of the student drawn images have the correct copyright information. You need to make sure you have the correct template for all of the uploaded images.

•The different sections seem to be a little inconsistent, where a few of the sections such as diagnosis and treatment seem a little vague. These sections could be expanded on to give the reader a more comprehensive knowledge of what is involved, especially seeing as the diagnosis section only has one reference.

•Some typos in the smooth muscle section - ‘&&&’

•A lot of the references are repeated multiple times – this should be fixed up so that each reference only appears once. And also not all the references seem to be formatted correctly.

•Glossary is incomplete

•Overall, good use of subheadings though some of the sections need to be expanded and a few more images are needed to add a better balance to the page. Good work so far.

--z3332183 21:33, 28 September 2011 (EST)


Group 10

*The key points relating to the topic that your group allocated are clearly described. All main points are there. Content is decent in some places and lacking in others. Fixing up problematic areas would be good.

*The choice of content, headings and sub-headings, diagrams, tables, graphs show a good understanding of the topic area. Maybe include a time-line in history? General Signs and Symptoms of Duchenne’s Muscular Dystrophy section is very poor. Getting information from an insurance website is not actual research. please consider re-doing this section with sources cited from a peer-reviewed paper. Signs and symptoms should go with diagnosis as it is part of making a diagnosis. why are there ampersands in Smooth muscle section?

*Content is correctly cited and referenced. Fix up references, some are simply links and they repeat.

*The wiki has an element of teaching at a peer level using the student's own innovative diagrams, tables or figures and/or using interesting examples or explanations. Student image is drawn well, explanation could do with a bit more work though. File:Normal control muscle (a) vs. Duchennes muscular dystrophy muscle (b).jpg needs proper citation, also there isn't many images. Try including more images.

*Evidence of significant research relating to basic and applied sciences that goes beyond the formal teaching activities. Not as much information as i was expecting and references is not as extensive as other pages - but good in-text citation (with the exception of some places such as diagnosis and Respiratory problems), it shows that the information has come from somewhere. Information from an insurance website is not evidence of extensive research so try to fix it.

*Relates the topic and content of the Wiki entry to learning aims of embryology. No connection to embryology - try linking genetic defects to problems in the neonate, or even if there is a prenatal test.

*Develops and edits the wiki entries in accordance with the above guidelines. Some evidence of developing the wiki page with the guidelines. Will benefit from changing some things.

--z3329495 21:28, 28 September 2011 (EST)

Group 10: Peer Assessment

  • Your page is relatively short overall and could use some more pictures, especially in the first few sections.
  • You have forgotten to put a title on you page
  • The introduction is good
  • You have got quite a bid of text in the history section, may be you can make a bid lighter with a time line?
  • Epidemiology is nice to read and relevant
  • Signs and symptoms belong into the clinical manifestation section
  • Diagnostics could be more in detail
  • The green and blue in the table is a bid too much colour all on a sudden. May be you can have some more colour overall or do the table in just one colour?
  • It would be great to have more terms in the glossary
  • I would put the diagnosis section right after pathogenesis
  • Overall you have got good information on your page. May be you can work on the overall structure and some references. --z3279511 17:15, 28 September 2011 (EST)


Group 10

  • Introduction: well done
  • History: lots of information, some parts have no references, subheadings and a time line would be advantageous
  • Epidemiology: good contend
  • Aetiology: the contend seems fine, but more structure would be good
  • Pathogenesis: looks good
  • Signs and symptoms: that’s more like a list that a section, maybe combine it with manifestations
  • Manifestations: well done, except for smooth muscle- seems incomplete?
  • Diagnosis: you could add more information and details
  • Treatment: the heading seems inappropriate, separate treatment and research, the contend could be more explained
  • Glossary: is incomplete
  • More images would be nice

--Z3387190 14:28, 28 September 2011 (EST)


Group 10

  • Very poor image/text ratio – you need more images to break up the text
  • Good intro
  • History would work better in a timeline- you also mention nothing after the 1800s, more recent findings need to be included
  • An image would be nice for pathogenesis to help the reader follow
  • Not sure why you have made signs and symptoms a different heading to clinical manifestation- these could be combined
  • Diagnosis is very brief and needs to be extended
  • Glossary needs to be added to
  • Maybe add a current research heading


Comments on Group Project 10

Strengths:

  • The flow of the page is smooth with appropriate placement of the various headings.
  • Clinical manifestation section looks really decent without appearing too verbose but yet sufficient information is given.
  • The last image has correct referencing and the copyright statement is also included.

Weaknesses:

  • Some of the references are not formatted properly. There are also a couple of duplications under References.
  • Glossary is not complete.
  • The formatting for the overall page is not as consistent as it can be.

Specific corrections:

  • Maybe it would be better to have a heading for the genetic condition just on its own and not put it with the introduction heading.
  • Maybe future treatments can come under a new heading “future research”?
  • It will be good to elaborate more on current treatments.
  • Diagnosis can be more detailed.
  • Include a timeline under history to summarise that section.
  • The copyright statement that allows wikiusers to use the student image after 6 months is not included.

--Z3389806 07:04, 27 September 2011 (EST)


Group 10 Peer assessment

  • Heading order needs to re-arranged and done properly with diagnosis above before signs and symptoms.
  • Introduction done sort of well needs to integrate image as an example of the myofibres.
  • History rather bulky with too much text and no image, image of the founder would be fine. Also no time line present of DM needs to be added
  • Epidemiology seems rather empty, images would benefit this section also more stats, further expansion of sub headings would also do well for this section
  • Genetics aetiology needs to be expanded where seems to be cramped, though usage of image needs to be noted
  • Pathogenesis needs images and further information
  • Signs and symptoms needs to be expanded and image of some signs or tables
  • Clinical manifestation done well with image and further sub-headings
  • Diagnosis requires more attention with further methods of detection of DM
  • Treatment is well done with the usage of the table
  • Glossary needs to further expanded also linked to the pages so easy to follow the page
  • References are not complete with links and repeats of the references

z3332250 23:59, 26 September 2011 (EST)


Group 10 Critique

  1. • The introduction was very good. Good use of images to give it a little decoration!
  2. • History is good
  3. • Epidemiology is good, however if possible try and make it longer/ include more information
  4. • The Genetics section is a bit too short. Add more information. Good hand drawn image!
  5. • Pathogenesis is a little short. Needs more information
  6. • Signs and Symptoms is good
  7. • Clinical manifestations is ok
  8. • Diagnosis, treatment and glossary are all well written. These sections should not require any change

--Robert Klein 16:27, 26 September 2011 (EST)

Group 10 Duchenne Muscular Dystrophy

  • The first paragraph of the introduction has no reference.
  • The paragraphs in history are quite long, often with grammar mistakes, incorrect punctuations and many of the ideas within a sentence separated by a -. For example the second last paragraph within history.
  • The history is too verbose, a timeline with bullet points will look better
  • Aetiology is quite concise and informative however gramatical errors are a distraction. For example There a multiple forms of dystrophin. It might be a good idea to proofread the page.
  • Well done with the student drawn image
  • 'Pathogenesis' is again well written however an image might have given it a balance between the text in the section and the pictures or tables
  • The future therapies table is a little confusing, you might want to add more columns and define the therapy, and then discuss what the challenges and findings are and at the end column finish off with what the implication might be if the research is to be completed successfully. At the moment you have discussed all that in one big paragraph and the way the descriptions start, it sounds like there is no background to the description, just a little abrupt.
  • The glossary is very short and you should include terms like de novo mutation.
  • The existing definitions are unclear and incomplete

Duchenne Muscular Dystrophy

  • Make sure you add a proper heading for the page, so it doesn't just start with 'Introduction'
  • The 'Introduction' is a good start to the page, very easy to read and understand
  • 'History' is a bit difficult to read, try to make is sequential order, or at least bold the dates
  • In 'History' we don't really want a story, but key dates in the history of the discovery of the disorder. Surely something has happened in the past 150 years?
  • Good work with 'Pathogenesis', it is a good description of the development of the disorder
  • Can we see an image relating to the signs and symptoms?
  • 'Clinical Manifestations' is a good thorough description, though I don't understand what going on with the last section 'Smooth Muscle' with the random &&&. It is also a whole lot more general than the preceeding sections. Is it finished?
  • Could you give a bit more detail in 'Diagnosis'. It would be good to explain each method a bit more and explain why they are relevant.
  • Can you expand on the table a bit? ie P188, what exactly is it used for? How does it treat it? How effective is it? When is it administered etc
  • No current research section? This could be a good conclusion to the page - the 'Stem Cell Transplant' section from 'Treatments' would fit better here
  • The glossary needs to be finished and expanded on
  • Overall the page is not bad, but more images are needed and some clarification on topics


Group 10-

  • Need more images to break up the text
  • The introduction was really easy to read and had relevant information in it
  • History should be in bullet point form to make it easier to access or at least have the dates in BOLD
  • Does the history include dates after the 1800s? or did all research stop then?
  • Epidemiology was good. Had all the relevant info
  • Pathogenesis would benefit an image or a diagram
  • Signs and symptoms could be put with clinical manifestations.
  • What is the point of the ‘&&&’? in clinical manifestations and complications?
  • Diagnosis could be expanded upon to explain how and why these methods work
  • Treatment could also be expanded on. A list of drugs doesn’t explain much
  • There is not current/future research section
  • This is a good start to the project but more research needs to be done


Group 10

  • The structure and use of headings and subheadings is good, make sure you title your page.
  • Good info very informative and it gives a good overview to DMD.
  • HIstory has a lot of text could you use a timeline here?
  • i think a picture of the pathogenesis would improve this section.
  • Has your group look at the CNS and cognitive function of DMD boys its a controversial area as many people have different attitudes towards this but Dr Stewart Head a UNSW lecture actually studies DMD and is very informative in the area and recently published a article in the journal Brain.
  • The CNS is highly affected by the lack of dystrophin as well as GABA receptors. I think this area is very import to consider as it highly affects the boys at school.
  • Could you add some pictures to your page or break it up with the use of more tables as it a lot of text in comparison to pictures and tables.
  • Make sure your reference list is not doubled.
  • Ensure all your pictures are referenced properly.
  • Student image is present.
  • This is a good start.

Group 10 Assessment

  • The history is a bit wordy… Maybe consider consolidating the information into a table format for ease of reading. Could also use a picture to add to it.
  • The Epidemiology section could also use a picture and maybe some more information, if possible.
  • Point vs Frameshift mutation jpg: Good drawing, but in the last portion of the picture the product is labeled as a ‘tunicated protein product.’ Isn’t it supposed to be a ‘truncated’ product?
  • The Signs and Symptoms section could use some formatting; it just looks rather dull currently. Maybe a chart or add in a picture?
  • Smooth muscle section: Why are there random &&&’s?
  • The top portion of the Treatment section could use some more referencing… Good chart though! Only thing I’d suggest for it is to add some pictures if possible?
  • Glossary term list is rather short… Are you sure there’s nothing else that needs defining for clarification for the reader?
  • It would be a good idea also to have the glossary terms linked with the words in the wiki page, so that the reader can easily get access to the word in the glossary.
  • Some of the references are repetitive. Make sure to fix this so they all link to a single reference instead of numerous ones of the same resource.
  • For the references given throughout the wiki, there isn’t any consistency in how the [#] is given. The [#] is sometimes right after the sentence, sometimes a space is given between the sentence and citation number, and the end of the sentence (period or comma) is sometimes before or after the reference #...
  • Overall, good information is included, just work on referencing things and the overall structure and you should be good!

--Z3391078 17:00, 27 September 2011 (EST)


Peer Assessment: Group Project 10

  • I think the section heading of introduction accompanied by the question what is muscular dystrophy, works really well.
  • It might be good to include an image in the history section to break up the text, such as of someone prominently involved with the disease findings.
  • The information in clinical manifestations and complications is well written. There needs to be some fix to the formatting under the smooth muscle heading where some '&'s have been repeated.
  • The current and future prospects section is great. You have summarised what
  • Some of the definitions of words in the glossary need to be completed e.g. atrophy and protease.
  • Under the information in some of the images such as the fisrt one, you still need to add {{Template:2011 Student Image}}.
  • Some of the references are duplicated. They can instead be linked together using the 'multiple instances on a page' editing guidelines: http://embryology.med.unsw.edu.au/embryology/index.php?title=References#Multiple_Instances_on_Page.
  • An additional section of external links might provide information for those wanting to know more.

--z3217345 10:50, 28 September 2011 (EST)

Peer Review

  • struture and format done well
  • easy to read

--z3060621 21:58, 28 September 2011 (EST)

Discussion

GROUP 10!

To make everything easier to follow, we have agreed to write any updates, info, discussion etc at the BOTTOM of this page, it will just stop us having to keep going up and down and wasting time trying to find the information we want.




Hey Everyone,

So Mark went through each group today during the lab and the webpages and discussed where we should be up to. By next week, he expects the subheadings & some content to be up and running. He also recommended that we should have some more research going on in our discussion page. E.g. Research articles links, interesting sites etc.

Topics have been allocated so please begin your research and typing up some content. We can further divide our headings if necessary, take a look at some other groups, they have some pretty good ideas. Mark will be checking this next week during our lab. He'll be coming around to each of us.

So hopefully see you all next week !

--z3332327 12:53, 25 August 2011 (EST)

Subheadings for assignment

Intro what is DMD

History/timeline

Genetic component

Why is it an abnormality - Symptoms effect

Diagnosis, future/current prospect (treatments?)

2 case studies

Glossary of terms

Post online any preferences you may have in terms of the topics you wish to research and by Sunday we will allocate sub topics

--z3332629 13:09, 18 August 2011 (EST)


Okay hey guys just to get the discussion going, umm I don't mind doing the first 2 on the list. And the "Why is it an abnormality - Symptoms effect" sounds pretty interesting as well. What are your preferences?? :)

--z3330313 14:55, 23 August 2011 (EST)

Hey Everyone, Im happy to do the diagnosis/current/future prospects point and a case study.

--z3332327 15:36, 23 August 2011 (EST)

Hello, I would like to do the 'why is it an abnormality - symptoms effect' and then it will be easy to incorporate that with a case study. So I guess that leaves Ashleigh to do the genetic component mostly, but we will ALL help out with that :D How does this sound?

--User:Z3332824 10:22, 25 August 2011 (EST)

Duchenne Muscular Dystrophy - recessive X-linked form of muscular dystrophy, which results in muscle degeneration, difficulty walking, breathing, and death. It is caused by a mutation of the dystrophin gene at locus Xp21.

Osteogenesis Imperfecta - caused by defect in the gene that produces type 1 collagen, an important building block of bone. Most cases of OI are inherited from a parent, although some cases are the result of new genetic mutations. A person with OI has a 50% chance of passing on the gene and the disease to their children.

Congenital Adrenal Hyperplasia - refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis).

DiGeorge Syndrome - congenital immunodeficiency. Di George syndrome is an inherited condition that lies at the more severe end of a spectrum of syndromes (also known as CATCH22 or 22q11.2 deletion syndrome) that occur when a part of the DNA on chromosome 22 is missing. Several different genes are lost, resulting in a collection of different features, including problems with the immune system, congenital heart defects and abnormalities of the parathyroid glands. z3332327 22:28, 7 August 2011 (EST)

Review Article: Targeting RNA to treat neuromuscular disease. Muntoni, F & Wood, M.J.A. (2011) Nature Reviews Drug Discovery 10, 621-637. http://www.nature.com.wwwproxy0.library.unsw.edu.au/nrd/journal/v10/n8/full/nrd3459.html

Research Article: Ahmad N, Welch I, Grange R, Hadway J, Dhanvantari S, Hill D, Lee TY, Hoffman LM. Use of imaging biomarkers to assess perfusion and glucose metabolism in the skeletal muscle of dystrophic mice. BMC Musculoskelet Disord. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141608/pdf/1471-2474-12-127.pdf

z3332327 23:11, 10 August 2011 (EST) ______________________________________________________________________________________________________________________________________________

Friedreich Ataxia – Is caused by defect/mutation of the gene FXN, the disorder is recessive. It is an inherited disease that causes nervous system damage and impaired muscle coordination (ataxia) through spinal cord, peripheral nerve and cerebellum degeneration.

Lesch-Nyhan Syndrome – Rare inherited disorder where there is a deficiency of the enzyme: hypoxanthine-guanine phosphoribosyl transferase (HPRT). This is caused by mutations of the HPRT gene located on the x-chromosome. This disorder is an x-linked recession disease, it causes kidney probems (building up of uric acid in all body fluids) and moderate mental retardation.

Farber's Disease – Is an inherited autosomal recessive lysosomal storage disease. The gene responsible making the enzyme ceramidase is mutated. This enzyme breaks down fatty material in the body’s cell. [not recommended to do, limited disease]

Mucopolysaccharidoses – Inherited metabolic disease where a defective or missing enzyme cause large amounts of complex sugar molecules to accumulate in harmful amounts in the bodies cells and tissues. They can’t break down these glycosaminoglycans into smaller chains. It ends up causing progressive cellular damage which affects appearance, physical abilities, organ and system functioning, and, in most cases, mental development.

--z3330313 23:43, 7 August 2011 (EST)

Note - This page is an undergraduate science embryology student group project 2011.
2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip

Hey group 10 members! I've quickly done some research on the top 4 listed disorders. All of them had loads of info!! Let me know what you think and lets say by monday we should pick a topic?

Angelman syndrome - rare neuro-genetic disorder - characterised by severe intellectual disability, speech impediment, sleep disturbance, unstable jerky gait, seizures and usually a happy demeanour - occurs about one in 20,000 births - Severe intellectual disability and developmental delay - Profound speech impairment - Movement for balance disorder

Turner’s syndrome - affects about 1 in every 2,500 girls - usually short in height - born with only one X chromosome or they are missing part of one X chromosome - prevents the ovaries from developing properly - kidney problems, high blood pressure, heart problems, overweight, hearing difficulties, diabetes, and thyroid problems

Williams Syndrome - rare genetic disorder characterized by mild to moderate mental retardation or learning difficulties, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety. - Common problem: cardiovascular disease caused by narrowed arteries - A random genetic mutation (deletion of a small piece of chromosome 7), rather than inheritance, most often causes the disorder - 50 percent chance of passing it on if they decide to have children

Cystic Fibrosis - Cystic fibrosis (CF) is a recessive genetic disease of the mucus and sweat glands, which affects the entire body. - affects mostly your lungs, pancreas, liver, intestines, sinuses and sex organs - makes it easy for bacteria to grow - Difficulty breathing - multitude of other symptoms, including sinus infections, poor growth, diarrhea, and infertility result from the effects of CF on other parts of the body


--z3332629 14:10, 4 August 2011 (EST)

Sorry i accidently posted it on the actual project page lol


--Ashleigh Pontifex 13:31, 10 August 2011 (EST) Review article: Functional characteristics of dystrophic skeletal muscle: insights from animal models. Jon F. Watchko1, Terrence L. O'Day1, and Eric P. Hoffman2 http://jap.physiology.org/content/93/2/407.long

Research article: The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype Elena Kudryashova1, Arie Struyk2,†, Ekaterina Mokhonova1, Stephen C. Cannon2 and Melissa J. Spencer1,* http://hmg.oxfordjournals.org/content/early/2011/07/28/hmg.ddr311.long --Ashleigh Pontifex 13:31, 10 August 2011 (EST)



Hello! So my four diseases:

1. Fragile X Retardation: males mostly, the code CGG is repeated on a fragile area of the X chromosome. The more repeats, the more problems. See http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002633/ for more details on symptoms etc.

2. Klinefelter Syndrome: extra X chromosome in males - XXY. Abnormal body proportions, infertility, less hair, big boobs, problems with their genitals (poor things). http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001420/

3. Triple X: I think this is a trisomy and should be avoided? It is having XXX in females.

4. Thalassemia: blood disorder in which you have abnormal haemoglobin. Results lead to excessive destruction of RBC which leads to anaemia. Inherited from BOTH parents. Bone deformities in face, fatigue, growth failure, jaundice. See http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001613/


Personally, out of my four I think either Fragile X or Thalassemia will be the most interesting. Angelman Syndrome and Duchenne Muscular Dystrophy also sound cool. I think we should avoid all ones that are really specific biochem disorders (or to that effect)- something like Mucopolysaccharidoses - because we might get bogged down in the details and have to spend ages figuring out what its actually doing.

What is everyone else's thoughts? See you tomorrow, Rhiannon.

I think we should do Duchenne Muscular Dystrophy. --Ashleigh Pontifex 11:03, 11 August 2011 (EST)

I agree ! Lisa Xiao 11:04, 11 August 2011 (EST)

Yes that sounds good, lets do it :) --Joanna Pak 11:38, 11 August 2011 (EST)

Yep, I'm all for it. I'm glad we can bags it before everyone else :D Rhiannon

--Rhiannon Bice 11:40, 11 August 2011 (EST)


Useful Links

[1]National Human Genome Research Institute: Fact Sheet on Duchennes

Treatment

No known cure. However treatment aims to manage symptoms to maximize the quality of life. Treatments includes: - Physical Therapy: in order to maintain muscle strength and function. (Inactivity leads to weakened muscles and can worsen the condition) - Orthopedic appliances such as braces and wheelchairs are available to improve mobility - Aggressive management of dilated cardiomyopathy with anti-congestive medications - The medication prednisone — a steroid — is given to improve the strength and function of individuals with DMD (However there are side affects associated with this medication)

Future Prospects - Gene Therapy

[2]Medline Plus: Encyclopedia

--z3332327 15:48, 16 August 2011 (EST)


Hey guys, I couldn't copy a picture relating to Duchenne, so i just got a random one :) Rhiannon.


File:Patterns of zona pellucida deposition and ZPC-ubiquitin colocalization in porcine ocyte-cumulus complexes isolated from small antral follicles.JPG

Patterns of zona pellucida deposition and ZPC-ubiquitin colocalization in porcine ocyte-cumulus complexes isolated from small antral follicles. [1]

  1. <pubmed>21383844</pubmed>

Flow of participants.JPG

File: Flow of Participants --Lisa Xiao 12:43, 18 August 2011 (EST)

1532-429X-13-20-1.jpg

--z3330313 12:51, 18 August 2011 (EST)

Hey girls its Ashleigh, sorry I've been quite sick over the last week. How about me copy and paste the headings again and write our names next to our bit and we can leave suggests as to what can fit into that heading etc? Ps did I miss anything from last weeks lab??

--Ashleigh Pontifex 19:38, 30 August 2011 (EST)


Official discussion

Subheadings for assignment

Intro what is DMD

History/timeline

Genetic component

Why is it an abnormality - Symptoms effect

Diagnosis, future/current prospect (treatments?)

2 case studies

Glossary of terms

Post online any preferences you may have in terms of the topics you wish to research and by Sunday we will allocate sub topics

--z3332629 13:09, 18 August 2011 (EST)


Just found an awesome website!

http://emedicine.medscape.com/article/1173204-overview

Check it out when you can, it has info on history & treatment as well as some really good images.

File:Point vs frameshift mutations.jpg

Whoever is doing future direction of treatment etc., check out this article on PubMed

Cardiomyopathy of Duchenne muscular dystrophy: current understanding and future directions.

http://www.ncbi.nlm.nih.gov/pubmed/21674516?tool=MedlinePlus

Abstract

Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy and occurs in 1 in 3500 male births. Improved survival due to improvements in clinical care of the musculoskeletal and respiratory systems has led to an increased incidence of cardiomyopathy. Cardiac-related deaths are now seen in approximately 20% of DMD patients. Our current understanding of DMD cardiomyopathy has increased significantly over the past 10 years, but further research is required to improve cardiac treatment and outcomes in DMD. This review provides a summary of the current literature and discussion of potential new therapies for DMD cardiomyopathy.

Copyright © 2011 Wiley Periodicals, Inc.

--Ashleigh Pontifex 20:00, 30 August 2011 (EST)

Some quick points from: http://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy

- Mutations in the DMD gene causes DMD

- The DMD gene provides instructions for making a protein called dystrophin that helps stabilize and protect muscle fibers and may play a role in chemical signaling within cells.

- Mutations alter the structure or function of dystrophin, or prevent any functional dystrophin from being produced.

- Muscle cells without this protein become damaged as muscles repeatedly contract and relax with use. The damaged fibers weaken and die over time, leading to the muscle weakness and heart problems characteristic of Duchenne and Becker muscular dystrophies.

- This condition is inherited in an X-linked recessive pattern.

- Males are affected by X-linked recessive disorders much more frequently than females.

- Fathers cannot pass X-linked traits to their sons.

- Females who carry a DMD gene mutation also have an increased risk of developing heart abnormalities including dilated cardiomyopathy.


Hey guys I found this slide show on DMD, quite easy to understand because all u have to do is listen! So its http://hstalks.com.wwwproxy0.library.unsw.edu.au/main/citation_info.php?c=252 Oh and I'm not 100% sure on how to reference properly so bear with me if I make a mistake on the group page. And I'm going to try and borrow some books DMD to see if there's more of an indepth history of the disorder. If u guys feel your part is too big, let me know because I'm willing to help out!!

(http://www.whonamedit.com/doctor.cfm/950.html) --Joanna Pak 02:10, 1 September 2011 (EST)


I've been doing a bit of research and found some good papers.

Rodino-Klapac LR, Chicoine LG, Kaspar BK, Mendell JR. Gene therapy for duchenne muscular dystrophy: expectations and challenges. Arch Neurol. Sep 2007;64(9):1236-41

Bogdanovich S, Perkins KJ, Krag TO. Therapeutics for Duchenne muscular dystrophy: current approaches and future directions. J Mol Med. Feb 2004;82(2):102-15

Cossu G, Sampaolesi M. New therapies for Duchenne muscular dystrophy: challenges, prospects and clinical trials. Trends Mol Med. Dec 2007;13(12):520-6

AND the a copy of original book by Gower (one of the first to describe the disease etc) is at the library! Its called ' A manual of Diseases of the Nervous System'. Pages 378-393. I will be checking that out tonight or tomorrow. -Rhi.


Treatment: http://emedicine.medscape.com/article/1173204-overview -- Useful link

Inflammation is implicated in the pathogenesis of the dystrophinopathies despite the fact that most biopsies in patients with Duchenne muscular dystrophy do not show inflammatory cells. Corticosteroids have been used for more than 40 years with some success to treat patients with Duchenne muscular dystrophy. The central role of inflammation in the pathogenesis of the dystrophinopathies is suggested by the fact that use of corticosteroids, such as prednisone, results in prolongation of ambulation, maintenance of strength and function, and delay in the development of scoliosis. The side effects are well-known and do temper many clinicians enthusiasm to recommend its use in small children, patients with behavior or learning issues, or any patient for chronic use. A detailed understanding of the mechanism of action for corticosteroids on the body is still a large mystery.

To date, corticosteroids are the only medication that has demonstrated a modest benefit in modifying the course of the disease.[5] Clinical improvement is seen as early as 1 month after starting treatment and lasts as long as 3 years. Children who discontinue corticosteroids for various reasons soon revert to natural downward progression of the disease. It is hypothesized that prednisone reduces tissue inflammation, suppresses cytotoxic cells, improves calcium homeostasis, and stimulates myoblasts.

--Lisa Xiao 16:45, 31 August 2011 (EST)




Clarification on components of the assignment

  • If we find papers/books/info relating to another section that isn't ours, clearly write the name of the person it goes to and link/mention it e.g. Lisa: xyz

(this will just make it really easy to find)

  • When we have the majority of the info up, we can meet and format the page, as well as edit it to make it flow.
  • Keep checking this page for updates! Make this the main communication method between us, so keep an eye on it :D
  • We also agreed that any updates will be here at the bottom of the page, just makes the flow easier. So keep updates down here!!

Sections:

Jo: intro/history/epidemiology

Ashleigh: genetic component/aetiology/pathogenesis (close work with Rhiannon)

Rhiannon: signs and symptoms/clinical manifestations/pathogenesis/CASE STUDY 1 (close work with Ashleigh)

Lisa: Diagnosis/treatment/futher research and directions/CASE STUDY 2

  • Also, do we want to write anything about Becker's syndrome (the milder version of DMD?) Maybe we could do a comparison table if we can be bothered?

--Rhiannon Bice 13:02, 1 September 2011 (EST)


Hey guys, during my own research I've come across a lot of resources that each of you could use. They are only suggestions, but a few look really good!! I just thought I'd put them here to help us all along instead of you starting from scratch. I've spent most of today researching so its a bit of a waste if I don't pass it on :)

  • Lisa: http://www.sciencedirect.com/science/article/pii/0959437X9180033I. There is also a book at the library called "Myoblast Transfer Therapy" written by the Muscular Dystrophy Association that you may find useful. It can be found at the library at Level 8, Main Library (MB 617.4730592/1). Also, I used a lot information found in the paper at {http://onlinelibrary.wiley.com/doi/10.1002/mus.22097/full}, so this may be a good starting point for treatment, especially about problems relating to the cardiac/respiratory systems. They also give some good info on the treatments available. Basically, you will get a lot out of that paper! If you can't download it properly, buzz me your email and I'll send it to you.
  • Jo: Book called The history of a genetic disease : Duchenne muscular dystrophy or Meryon's disease Level 8, Main Library (MB 616.748/6). I think also when we all have our info about the actual disease written it will be heaps easier to write the introduction.
  • I have found a tonne of papers as well, so if everyone puts up their emails I can send it to you all. Even if you get one good sentence to use out of the whole paper then thats great!

-Chamberlain, J. (2007), "Duchenne Muscular Dystrophy", in Dunn, B. (ed.), Protein Epidemiology: Diseases at the Level of Protein Structure and Function, The Biomedical & Life Sciences Collection, London (online at http://hstalks.com/bio)

Ashleigh's writing - maybe use?: Normal functioning of Dystrophin verses impaired functioning

Dystrophin is part of a group of proteins found in skeletal and cardiac muscle that work to protect and strengthen muscles fibers as they contract and relax upon movement. Dystrophin also functions in connecting muscle cell’s with other proteins and molecules in order to send and receive chemical signals amongst cells and to anchor muscle fibers. [1]

Skeletal and cardiac muscle cells of Duchennes patients have no functional dystrophin present and therefore the muscle fibers become extensively damaged as they contract and relax with use. Overtime, these damaged cells weaken and eventually die resulting in multiple health implications. [2]


---Rhiannon.

  1. U.S. National Library of Medicine (2011). “Duchenne and Becker muscular dystrophy”. Author unknown, Genetics Home Reference. Accessed via http://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy
  2. U.S. National Library of Medicine (2011). “Duchenne and Becker muscular dystrophy”. Author unknown, Genetics Home Reference. Accessed via http://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy