{{2011Student}}

--[[User:Z3288827|Z3288827]] 12:55, 28 July 2011 (EST)

'''Hello, I'm a student currently enrolled in the embryology course at UNSW. I'm really enjoying the course so far and think it's really great that we get to study the origins of where we came from, and plus the developing embryo looks cute! It's amazing to think that the entire human body forms so seamlessly from this series of events.'''

Also a member of the group [http://embryology.med.unsw.edu.au/embryology/index.php?title=2011_Group_Project_2] researching DiGeorge Syndrome:

== Lab Attendance==
Sorry Mark I forgot to do it in the firs half of semester!
--[[User:Z3288827|Leonard Tiong]] 12:12, 15 September 2011 (EST)
--[[User:Z3288827|Leonard Tiong]] 11:11, 22 September 2011 (EST)

== Week 1 Online Assessment ==

1. Identify the origin of In Vitro Fertilisation and the 2010 nobel prize winner associated with this technique.

In Vitro Fertilisation (IVF) was being explored in the 1950's by a scientist named Robert G. Edwards, who decided to investigate the possibility of fertilisation occurring outside of the body. Robert G. Edwards developed the theoretical technique and the media which would allow fertilisation to occur, and with the oocytes obtained by gynaecologist Patrick Steptoe, managed to develop the technique of IVF. Success was granted in 1969, when he first observed successful fertilisation within the test tube. Further success followed in 1977, with the birth of a healthy baby, Louise Brown, through the use of IVF.

2. Identify a recent paper on fertilisation and describe its key findings.

The article: "Obstetric outcome after ''in vitro'' fertilization with single or double embryo transfer", written by Sazonova A. et al, published in the journal of human reproduction in December 1, 2010. Generally, children that are born using the technique of ''in vitro'' fertilization (IVF) have a poorer outcome when compared to children born without assisted treatment. However, with a new technique, known as single embryo transfer (SET) in which a single blastocyst is implanted into the uterine wall, this poor outcome may be resolved. This paper observed the study of several subtypes of SET and double embryo transfer (DET) used amongst the general Swedish population. The most common complications were premature births and low birth-weights in the babies. The results indicated that any method of IVF, irregardless of whether SET or its variants, or DET were used, still had a higher rate of premature birthdays (<28 weeks) when compared with natural pregnancy.

3. Identify 2 congenital anomalies.

Congenital anomalies are defined as variations from the normal physical structure in a baby that are present at birth. They have a varying range of severity and have the potential to be lethal. A couple of examples of congenital anomalies include anencephaly, where the rostral end of the neural tube fails to develop ''in utero'', resulting in the failure of the brain to develop. This particular condition is lethal. Another congenital anomaly is Sirenomelia, a rare and usually fatal condition in which the legs are formed together. The name of this condition indicates the physical appearance of the child, in which the legs are fused together, similar to that of a mermaids tail. There are usually severe complications associated with this condition, as the lower gastrointestinal system, bladder, and reproductive organs are also fused in a single tube. However, there have been a few instances where the baby is able to survive for a few years after birth.

--[[User:S8600021|Mark Hill]] 09:38, 3 August 2011 (EST) All 3 questions need to be completed before Lab 2.

--[[User:Z3288827|z3288827]] 22:51, 9 August 2011 (EST)

== Week 2 Online Assessment ==

1. Identify the ZP protein that spermatozoa binds to and how is this changed (altered) after fertilisation.

The ZP protein that the spermatozoa binds to is ZP3. This results in the release of an enzyme known as acrosin, which allows the sperm to penetrate through the oocyte cell membrane. Once the sperm has penetrated the cell membrane, this triggers two key events within the oocyte. Firstly, cortical granules, which are filled with enzymes and located just beneath the cell membrane, release their contents into the space located between the oocyte cell membrane and the zona pellucida. Secondly, a calcium wave spreads along the surface of the oocyte from the point of fertilisation. This changes the nature of the zona pellucida to other sperm, preventing multiple sperm from reaching the oocyte (polyspermy).

2. Review/Journal article - Duchenne Muscular Dystrophy

Hey guys, just found a review article that I thought was rather interesting, it's an animal model for Duchenne's muscular dystrophy[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3022202/]. I also found a primary journal article that discusses drug delivery for the condition [http://www.jstage.jst.go.jp/article/bpb/34/5/712/_pdf]. I will print these articles for myself tonight and give them a quick read tomorrow and then paste a quick summary of the articles here just for you guys to consider :)

== Week 3 online assessment ==
--[[User:Z3288827|Leonard Tiong]] 00:08, 17 August 2011 (EST)

1. The maternal dietary supplement required for late neural development is folate. A lack of folate can result in failure of closure of the neural tube, leading to either spinal bifida (failure of the caudal end to close) or anencephaly (failure of the rostral end to close).

2. [[Image:FISH_for_DiGeorge_Syndrome.jpg|thumb|right|FISH to detect DiGeorge syndrome[3]]]FISH carried out to detect DiGeorge syndrome. FISH is abbreviated as fluorescent in-situ hybridisation and is carried out to detect abnormalities whilst babies are still developing in the womb.

== Week 4 Online Assessment==

1. The allantois is a structure located in the developing umbilical cord, and is connected to the developing bladder.

2. The three vascular shunts are present mainly because the lungs of the embryo are useless until parturition. They are generally located around the liver and heart to bypass the lungs, and are named as follows:

# The Ductus Arteriosus, which is located between the aorta and pulmonary artery;
# The Ductus Venosus, which is located between the portal vein and inferior vena cava; and
# The Foramen Ovale which is a direct shunt between the right and left atria of the heart.

3. The sections that I am covering for my group project include epidemiology and the pathophysiology of DiGeorge syndrome.

== Week 5 Online Assessment ==

1. Congenital Diaphragmatic Hernias are most common on the left hand side of the body. This condition is caused by the failure of the pleuroperitoneal foramen to fuse, resulting in an opening through which the viscera of the gut can directly articulate with the left lung, resulting in compression.

== Week 6 Online Assessment ==

1. The palatal shelves fuse in week 9 of human development, and are associated with the fusion of the '''secondary palate'''. This fusion event occurs between both secondary palates and the primary palate which is formed around week 6 (Carnegie stage 17/18)

2. The quail-chick chimera model helped to identify the neural crest origin and migration of neural crest cells.

3. The abnormality that results from the failure of neural crest cells to migrate to the cardiac outflow tract is known as '''Tetralogy of Fallot''' and has numerous presentations including '''Persistent Truncus Arteriosus''' in which the pulmonary trunk and aorta fail to divide properly.

== Week 7 Online Assessment ==

1. Satellite cells are not normally necessary for muscle hypertrophy, as it has been shown that this can occur even without satellite cells present. However, they have been associated with muscle hypertrophy as we see their hypertrophy during normal hypertrophy.

2. Fast muscle fibres generally use anaerobic metabolism pathways to generate the energy necessary for a fast, explosive contraction; slow muscle fibres utilize oxidative pathways to generate energy for slower and more sustained contractions. Muscle fibre types are able to transition between fast and slow muscle, but through intermediate stages. Due to the physiological pathways in the muscle fibres, chronic low frequency stimulation will stimulate the slow muscle fibres and cause a shift from the muscle fibre types from fast to a slow muscle type.

====Trisomy 21 comments====

• The key points relating to the topic that your group allocated are clearly described.

This is generally well done, except that the introduction relies a lot on the external links that are provided. Perhaps there should be more elaboration of the history of Downs syndrome, and specific sections on etiology and epidemiology; these sections require more written on their specific section given the importance of this disease.

• The choice of content, headings and sub-headings, diagrams, tables, graphs show a good understanding of the topic area.

It is well covered, and there is a large number of diagrams tables and graphs which make the information easily accessible. However, at times it seems that the content relies on dot points and diagrams; there are no sections of text that have bodies of text and this makes the information feel artificial; there is not much flow in the information and seems to skip from point to point. Otherwise, the selected images are appropriate; perhaps graphs for each specific section (such as a graph for epidemiology) might be appropriate as well.

• Content is correctly cited and referenced.

Unfortunately the first diagram present on the page isn’t correctly cited or referenced, and there are a few sections which lack references altogether, such as the Heart Defects section. The picture of John Langdon Down also lacks a proper reference.

• 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.

The information is highly information and quite interesting, but I feel lacks a written paragraph to link all of the information together. There is a severe lack of information on treatment and future research directions, as well as the physiological mechanisms that underlie the disease process.

• Evidence of significant research relating to basic and applied sciences that goes beyond the formal teaching activities.

There is extensive research past the formal teaching activities as can be seen by the content provided by the external links; however, it still seems like these links are relied on as opposed to having the critical information presented within the project itself.

• Relates the topic and content of the Wiki entry to learning aims of embryology.

It would be nice to see that the sections are a little better explained, such as the basic mechanisms of growth and development been outlined, followed by a discussion of how the disease process of Downs syndrome alters and changes these basic growth processes. Whilst this information is provided as external links it would be nice to see it elaborated on the actual page, keeping the relevant information specific to the project.

== Week 8 Online Assessment ==

=== Peer Assessment ===
==== Group 1 ====
'''Group 1 Assessment'''
* Key Points: Clinical manifestations could probably have a better explanation, as opposed to a list? Perhaps try discussing the presentation of the disease, etc. Is there any history of the disease? Generally sections are of good length and the information is relevant.
* Content is difficult to assess because there are sections that are lists of terms. Many items in the project rely heavily on this point-form, especially the clinical manifestations. Perhaps try using more images to support the clinical presentation/complications of the disease, as well as the prenatal diagnosis. The diagrams are used well when they are used.
* Referencing is generally fine, although the first image doesn't seem to have a correct copyright license. As for the double references in the reference section, we have the same problem too!
* The student-drawn diagram is simple but effective, and the images chosen are adequate to the project. However, the entire project seems a little brief in each section; try to ensure that you've written everything that you can!
* All of the information is well-cited with a large number of sources and clearly shows that further research has been done. However, to make the project flow a bit better maybe have some more images and phrases to allow an explanation as opposed to just dot points on the work.
--[[User:Z3288827|Leonard Tiong]] 09:18, 28 September 2011 (EST)

==== Group 3 ====
'''Group 3 Peer Assessment'''
* Try to link your sentences in general - at times the reading is quite disjunct and difficult to read. Try to rewrite sections and see if it can be written in a more succinct manner.
* In general, keep the images on the right hand side of the page - I know you want to break things up, but if images are kept on the left then it disrupts the paragraph lining and makes the information difficult to track with the eye (just a minor thing, this is my opinion anyway)
* Some subsections just appear too short; is it really necessary to make a subsection for one or two sentences, as is the case of karyotyping? Try to implement all of the information into one paragraph
* The first image requires a proper reference to the work; is there any copyright information? And also protect your hand-drawn images - they are drawn excellently, but have no copyright information (unless you are happy with the images been used straight away by other students! :) )
* The current research section and possible treatment options section is far too brief; if this is a syndrome that causes many problems, then there should be a fair amount describing our direction of research and methods in which we can combat this syndrome. Try to find more information here!
* Overall, a good balance of the images and format, but reconsider the structure of paragraphs and subheadings so that the entire project has a better feel. Many sections feel like they have been started with great enthusiasm, but this has burnt out over time, giving the project a feel that some sections are just left incomplete. Try to fix this!
--[[User:Z3288827|Leonard Tiong]] 09:38, 28 September 2011 (EST)

==== Group 4 ====
'''Group 4 Peer Review'''
* Good introduction, history seems adequate - although the timeline stops at 2002? Is there anything after this?
* Nice table for epidemiology; although some terms require explaining
* Excellent student-drawn diagrams and genetics section with a good balance between the text, bullet points and images. One image has been removed so be sure that that is re-uploaded!
* Video section: Formatting is a bit of a pain to read when the left hand margin keeps shifting with the images being placed here. Fix this please so that it is easier to track the page with our eyes.
* Treatment section is overwhelming, whilst some might have said that it looks great (and it really does), to suddenly be hit with such a huge table is exhausting. Perhaps shorten this section by mentioning that there is only treatment available for the symptoms, list them, and then link to an image containing the table in its entirety.
* Current/Future research section seems a bit short.
* Overall, it looks like an excellent project that has had a lot of thought put into it. Well done guys :)
--[[User:Z3288827|Leonard Tiong]] 10:26, 28 September 2011 (EST)

==== Group 5 ====
* First student figure has no explanation as to what it's all about, and is a pretty simple diagram. What does it contain? Where is your copyright information? The same can be said with the second student-drawn figure. Make sure this is fixed!
* The introduction section appears to be pretty short. Try to keep away from using the brackets and just enter your information in a continuous format.
* The headings and subheadings work quite well. However, the lack of images in the signs and symptoms section make this difficult to read; it seems like a large block of text without anything to assist in the breakup of the page (making it difficult to read and easy for us to lose attention).
* Subheadings are used quite well. The treatment section is well presented in table format, but once again, any images to help break things up?
* The recent and future research section doesn't seem to be completed. Is there anything that can be done for the future of the disease? Is it related to any other disease processes? The glossary also seems short and isn't in alphabetic order. Please add all the terms to the glossary to ensure that there is completeness of the project! There are many terms that are difficult to understand, so slot them in here.
* There just needs to be more work done overall to ensure that the project flows smoothly and all the smaller details are accounted for. At the moment there is still a large part of the project that feels quite sketchy and requires more work.
--[[User:Z3288827|Leonard Tiong]] 10:32, 28 September 2011 (EST)

==== Group 6 ====
* Good introduction, although an image straight up would be nice!
* History is presented well, although a table format at the end that summarises everything you have said would be nice. Also, does the history stop around the 1950's? It seems like there has been nothing done on it until 1970/1980? Hence, the table format would be nice if it appears that I've missed information.
* Epidemiology section is really quite short. Is there nothing more that can be said on it? Does it have preference to specific race?
* Signs and symptoms - from the way that the page is formatted it appears that you've gone down onto the level 4 headings with 4 ='s paraphrasing each heading. Try to use 3 or so just to make sur e the headings are larger and each subsection can be identified.
* The genetics/aetiology section should be explained better; whilst this is aimed at academics, it is almost impossible to understand the information pertaining to the genetics section.
* The pathophysiology and abnormalities section is well explained, and the diagram is excellent to show exactly where the problem lies. A well done section, and a well-selected image for the blood flow patterns.
* Diagnostic tests: Still need to insert those images on the right hand side column! Also, ensure that the referencing is done in the correct format - this section still needs work.
* Treatment/Management section is done well, with a good balance between text and table.
* Current and Future research: Perhaps more dates? The formatting here also needs to be fixed up, and try to have dates on the papers that you are quoting from (although I understand it's difficult without the references in place)
* The glossary section needs more terms added to it! Especially from the genetics/aetiology section which is already terribly difficult to understand.
* Referencing section is quite short - but understandably the whole project feels like the referencing just needs to be finished.
* Overall a nice-looking project with a lot of promise. The spacing and format of the project makes it easy to read - perhaps more images and the use of some tables might also assist in the presentation of this project.
--[[User:Z3288827|Leonard Tiong]] 10:49, 28 September 2011 (EST)

==== Group 7 ====
* Introduction is pretty short, and there is no image in the intro nor the history section. It makes it difficult to read. However, the information is quite adequate; perhaps mention the incidence in the introduction?
* History section is well presented, perhaps have an image or two around here. It'll help out :)
* Epidemiology section seems to just have the figures copied and pasted from these two presented papers. Can you explain the reasons as to why the current population is unknown? Surely there will be papers presented on these findings? Are there contributing factors to epidemiology and incidence; for example, why is the incidence so much higher in Denmark and Sweden; and are two countries directly comparable to '''Western Australia''', as opposed to the whole of Australia? There seems to be almost no thought placed in this section.
* Aetiology is sketchy, but will do. Is there more that can be said under this section?
* Pathogenesis section is well described and many of the terms are present in the glossary. There is a nice balance of diagrams and test images, and good referencing throughout these sections. Once again, a pet hate is the presence of the images on the left hand side of the page which breaks up the margin that is traced by the eye when reading the page, making it unnecessarily difficult to read the information. Also make sure that there is enough space left at the bottom of your section so that the signs and symptoms section isn't axed by the image.
* Signs and Symptoms is well described, and the use of the images also makes things much easier to observe. The subsections make it easier to observe as well. There are a few typos here and there; re-read your project and I'm sure you'll find them ;) Perhaps consider making complications an extension of the signs and symptoms section; it is too short to be a section by itself.
* Diagnosis is well presented - try using bold text for headings as it's simply easier to read. Once again, left-aligned images are a pet hate. Consider the related diseases section as a sub-section of diagnosis.
* Treatment and Management: Once again, absorb the next two sections and make them subsections. The information becomes a bit sketchy once we reach this stage of the project again.
* The current and future research would do well to link to some articles that have been published quite recently.
* Glossary has a nice layout and there are still some small issues in the referencing section that need to be addressed.
* Overall the project starts and finishes quite sketchily, but the detail in the middle of the project is impressive. Try to balance the entire project and ensure that each section has an even weighting. There is also a distinct lack of images in sections other than the pathogenesis section, and more information (let alone detail) needs to be added many sections. Images! Keep at it guys! :)
--[[User:Z3288827|Leonard Tiong]] 11:13, 28 September 2011 (EST)

==== Group 8 ====

* Introduction and History are well presented, and structured well. It's quite easy to read. The history section could perhaps have a little bit more substance, and your findings end around 1996; does this mean that there has been nothing done since 1996? What is the situation now? It's also slightly lacking in the time period between 1907-1988; surely some significant discoveries would have been made in this period.
* Epidemiology is well structured and covers all aspects of epidemiology. Perhaps a graph or table will structure the information slightly better, but otherwise, good.
* '''Protect your student-drawn image''' with the copyright statement, unless you're happy to let it go around! The subheadings in the aetiology section are appropriate and the bold words make it easy to read. The images help break up text and this section is very well outlined.
* Perhaps a little more could be written on the pathogenesis section? After all, this is the section where you can take the time to discuss the disease process and how it manifests itself into the form which presents with the condition in the clinic. Therefore, just a little bit more? Try explaining how it affects normal physiology (since patho- (disease) -physiology (normal function)); how disease state alters normal function.
* Excellent Neuropathology section with imaging and referencing all well outlined. The previously mentioned point about the pathophysiology section has to just refer to the neuropathology section to see how it is done!
* Clinical presentation is well set out with the tables used to break up the information. Diagrams and tables in the diagnosis section still require linking to the videos? Perhaps get an image snapshot of the video and link through there.
* Treatment section would be better with a diagram, otherwise it is adequate
* Current research doesn't really give me any dates as to the information, but otherwise is set out well.
* Reference section is extensive and well done - consider putting the glossary before the reference section to make it more accessible.
--[[User:Z3288827|Leonard Tiong]] 12:52, 28 September 2011 (EST)

==== Group 9 ====

* Interesting introduction, however it's difficult to appreciate without a diagram of sorts. The introduction is succinct and leads well into the project. The history of the disease is also well presented, and the timeline quite clear - in general, these sections only require an image (if possible) to be complete!
* The section on genetic factors and etiology is well explained, and the variation of formats makes the information easy to obtain.
* Diagnosis section is also well laid out; perhaps more referencing in this section could explore different methods (if there are any?).
* Epidemiology is outlined well, although I don't think you want to put management and treatment in the same section as epidemiology; they should be on their own independent sections. I think you may have slightly misunderstood epidemiology (occurrence, bias to sex/age/gender/race, etc.).
* Phenotype is well set out, and the student-drawn image has been well chosen for this section!
* Cardiac Conditions, Genitourinary conditions, Endocrine, Other Associated Medical Conditions etc. <-- make these sections subsections of Clinical presentation, etc. In general these sections might benefit from the occasional table, as well as diagrams to help break up the information; large blocks of text are difficult to read and maintain interest of the readers.
* Current research and developments section, compared to the rest of the project is not of the same standard; it could do with some well-placed research! Try to place some emphasis on this section as these areas outline whether we can hope for a cure in the future and give the reader some direction as to where the condition/disease is heading.
* Glossary is still incomplete; but this is obvious and something which (I'm sure) everyone needs to complete! The references are generally well used; see if you implement more in your research.
* Overall, a pleasing product; try for more images, but otherwise there is more than enough information required for the project. Try to distribute it over the sections and ensure the information presented under each subheading is relevant; you may want to also consider absorbing some sections and re-classifying them as sub-sections.
--[[User:Z3288827|Leonard Tiong]] 22:14, 28 September 2011 (EST)

==== Group 10 ====

* 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! :)
--[[User:Z3288827|Leonard Tiong]] 22:28, 28 September 2011 (EST)

==== Group 11 ====

* a

== References ==
[1] Nakamura A., Takeda S.; Mammalian Models of Duchenne Muscular Dystrophy: Pathological Characteristics and Therapeutic Applications, J. Biomedicine and Biotechnology Vol. 2011, Article ID 184393

[2] Yukihara et al; Effective Drug Delivery System for Duchenne Muscular Dystrophy Using Hybrid Liposomes Including Gentamicin along with Reduced Toxicity, J. Biol. Pharm. Bull, Volume 34, No. 5 pp. 712-716

[3] Mol Cytogenet. 2011; 4: 6. Published online 2011 February 23. doi: 10.1186/1755-8166-4-6, Link: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3058102/figure/F2/

Talk:2011 Group Project 10

2011-09-28T12:29:15Z

Z3288827: /* Peer Review */

[[2011_Group_Project_10|'''Group 10''']]: [[User:z3332327]] | [[User:z3332629]] | [[User:z3332824]] | [[User:z3330313]]

{{2011GroupDiscussionMH}}

==Peer Review==

'''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 ('''&&&''')?
--[[User:Z3288827|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.

--[[User:Z3332183|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
--[[User:Z3387190|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'''

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

--[[User:Z3289991|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!
--[[User:Z3391078|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 <nowiki>{{Template:2011 Student Image}}</nowiki>.
*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.
--[[User:Z3217345|z3217345]] 10:50, 28 September 2011 (EST)

'''Peer Review'''

* struture and format done well
* easy to read

--[[User:Z3060621|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 !

--[[User:Z3332327|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====
--[[User:Z3332629|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?? :)

--[[User:Z3330313|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.
[[User:Z3332327|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.

--[[User:Z3330313|z3330313]] 23:43, 7 August 2011 (EST)

{{2011ProjectsMH}}
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

--[[User:Z3332629|z3332629]] 14:10, 4 August 2011 (EST)

Sorry i accidently posted it on the actual project page lol

--[[User:Z3332629|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
--[[User:Z3332629|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.
--[[User:Z3332629|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 :)
--[[User:Z3330313|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

--[[User:Z3332824|Rhiannon Bice]] 11:40, 11 August 2011 (EST)

== Useful Links ==

[http://www.genome.gov/19518854]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

[http://www.nlm.nih.gov/medlineplus/ency/article/000705.htm]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.
<ref><pubmed>21383844</pubmed></ref>

<references/>

[[File:Flow of participants.JPG]]

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

[[File:1532-429X-13-20-1.jpg]]

--[[User:Z3330313|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??

--[[User:Z3332629|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====
--[[User:Z3332629|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|500px|]]

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.

--[[User:Z3332629|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)
--[[User:Z3330313|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.

--[[User:Z3332327|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?
--[[User:Z3332824|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 :)

*'''Ashleigh'''- you may find details these sites helpful: http://www.nature.com/nature/journal/v333/n6172/abs/333466a0.html; http://www.unsworks.unsw.edu.au/primo_library/libweb/action/dlDisplay.do?vid=UNSWORKS&docId=unsworks_8295; http://docentes.cs.urjc.es/~odeluis/Docencia/ABP/Articulos/davies.pdf

*'''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.

*YO! '''Found a LECTURE''' from a guy in America about it: http://hstalks.com/main/browse_talk_view.php?t=72&s=72&s_id=33&c=252. You can download the lecture slides too and use them (of course, we have to reference it properly as well). I think you found this before Jo? Anyway, check it out!!!

*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. <ref>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 </ref>

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. <ref>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 </ref>

---Rhiannon.