Difference between revisions of "Talk:2011 Group Project 9"

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Revision as of 22:06, 4 October 2011

Group 9: User:z3331469 | User:z3331556 | User:z3332178 | User:z3332183

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


Page Edits 30 Sep

Images

Hey guys...so ive gone through the articles which we originally used for our lab assessments and ive found quite a few other images we can use. Im gonna upload them all and put them here for now..so they're all together and then we can go through and choose which ones we want to use and where to put include them on the page! :]

--z3332183 21:21, 4 October 2011 (EST)

Use of social evaluation cues for WS and non WS individuals.jpg


Schematic diagram detailing genes deleted in probands.jpeg

Peer Review

Group 9 Review

  • Intro – don’t need the word ‘Ever’ at the beginning of the 2nd para. The intro needs to be proof-read/edited so it flows well and is not too colloquial.
  • Intro/History – would look better if it was broken up with a picture or some colour. Maybe the timeline in a coloured table? Other groups have done this and it looks quite good.
  • Genetic factors – can you explain the picture you have used, refer to it in the text?
  • Diagnosis – should come after all the epidemiology, phenotype etc, just before specialised facilities I think? It is your project so do what you want, but I think that having it so close to the beginning is a bit funny. I think treatment should then come after the diagnosis.
  • Cognitive, behavioural and neurological phenotype – as each of these subheadings and the text in them come only from one research paper, perhaps refer directly to the researcher’s names and year in an intro sentence into each? I think it would be better than just putting in a reference number at the end.
  • Current Research – is it the WS Association or Foundation?
  • Glossary needs work, just define everything – don’t assume people know what everything means.

--z3332824 14:51, 29 September 2011 (EST)

Peer Review

  • Introduction is well referenced and nicely detailed, outlining each of the facets of the topic that follow.
  • Relevant information presented in the history, outlining in enough detail the sequence that led to recognition of the syndrome. The timeline may be superfluous though.
  • Good balance between table, text and pictures in Genetic Factors/Etiology; the table in particular presents complex information in a very understandable form, but it could contain more references.
  • Each subheading in Diagnosis is thoroughly researched, however each segment of Diagnosis requires more references.
  • The subheadings of Epidemiology are a bit peculiar. Management and Treatment wouldn’t usually be listed under these headings.
  • I would have placed Phenotype earlier on the page, probably after Etiology. This section could also use some more free text, even if to explain the table. The table itself is very comprehensive though.
  • I would have probably linked Phenotype and Cardiac/Genitourinary Conditions, Endocrine and Other Associated Medical Conditions together. Also, the “other problems” subheading seems like it should be a main heading, with all the afore-mentioned segments following it as subheadings themselves.
  • In Renal Tract Abnormalities, a subheading is introduced by a colon following a sentence in a free paragraph; very strange. The information presented however is very in-depth.
  • Cognitive etc section needs many more references. Peculiar sentence structure (“as having a cognitive variety of relative strengths and weaknesses”). Incorrect grammar is evident in places. The Sociability and Anxiety both seems to have redundancies.
  • The glossary is insufficient.
  • Structural differences needs many more references.
  • Specialised etc can’t start with “Here in Australia” (welcome to the internet). Also, the information presented about the support groups is entirely too detailed; a link would be preferable

--z3290689 14:42, 29 September 2011 (EST)


Group 9: Obviously a lot of effort has been placed in this page. But it lacks of images in some sections like history or introduction. It is nice to know the history of the disease but It would be better it is summarised. Epidmiology seems to have many subheading under it. Perhaps a separate headings for each and more info on the epidmiolgy not one sentence only. The image of phenotype of Williams Syndrome can be in a separate box ( as an image ). Finally, Amazing work on all the details ( associations and medical conditions). Just be aware that references referring to 23 are empty. --z3284061 11:52, 29 September 2011 (EST)


Peer Assessment

  • Introduction is good but an image would be good
  • History and Timeline is a little text heavy
  • Genetic Factors and Etiology section is very good, well written, good use of tables and images
  • Epidemiology is a little text heavy, a image might be good to break it up
  • Structural Differences in the Brain section needs more references
  • Glossary needs more work
  • No references in Phenotype
  • Maybe reorganise headings so it flows better
  • Overall it is a well researched project but could do with some more images

--z3292953 11:02, 29 September 2011 (EST)


Williams Syndrome (Group 9) Peer Review:

Introduction: The content is interesting, however try adding an image to interest the reader.

History of the Disease: This is possibly too much information- may bore the reader. Otherwise, it is very well researched. Once again a picture would help to break up the huge slab of information.

Genetic Factors and Etiology: This section is impressive. The image is good and contains all of the relevant information. Well done. Also the table is a nice touch.

Diagnosis: This section needs many more references. The picture is good. The information is written well.

Epidemiology: This section is good, however I am not too sure about merging management and treatment within the epidemiology subheading? Just a thought. Also, a picture is necessary to break up the information.

Phenotype of William Syndrome: I like the use of the table – helps to organize the information. Referencing needs to be completed as currently there are no references in this section.

Cardiac/ Genitourinary Conditions: It seems like a huge slab of information that needs more images to help balance it out. Information is extensive though, well done.

Endocrine: Good use of subheadings. Thyroid subheading has no references?

Other Associated Medical Conditions: Great use of table. Could you add a picture into this section?

Cognitive, Behavioural and Neurological Phenotype: Wow, a lot of detail has gone into this section. Not enough references. Image is interesting. Possibly cut down on some of the information in this section, or add more pictures as there is too much text and you may lose the reader as a result.

Structural Differences in the Brain: Not enough references in this section. It is a slab of text, try breaking it up more. Insert more spaces within the paragraphs.

Specialised Facilities and Supportive Associations: Is this section necessary?

Current research and developments: Good summary of the research however seems a bit brief. Glossary: Could be a bit more extensive.

Overall, good job and good luck with the editing process! --z3290808 10:52, 29 September 2011 (EST)


Williams – Beuren Syndrome – Group 9

  • Introduction seems very conscise and clear. Use of an image would improve this section.
  • History of the disease is great. Seems well detailed and reference. Use of the timeline is great. This could be put into a table so it can be centered and improve the overall look of the project. Another image could be included in this section as well, maybe of J. Williams?
  • I thought the Genetic Factors and Etiology section was great. Well written and good use of images. Table was fantastic. I though maybe another section dealing the pathogenesis and pathophysiology would be more informative.
  • Some of your images don’t have a good detailed explanation of what they are showing. I think this would greatly improve your use of images.
  • Epidemiology seems good, covers all the necessary information. I thought an image here could be good, maybe a graph of incidence rates in certain countries.
  • Phenotype is very informative and well written however doesn’t seem to be any referencing. Is this information reliable?
  • Cardiac Conditions is incomplete, “other problems” subheading.
  • More images in Genitourinary and Endocrine headings., and a few others This will help break up the text. Seems quite text heavy in a few sections.
  • Current research and future developments seems incomplete. Not much is mentioned about future research prospects in regards to what we are trying to discover and what direction it is taking etc. This would improve this section. The projects that are mentioned could be elaborated on and their importance explained.
  • Glossary needs completing.
  • Otherwise very well done. Looks like a lot of work has been put in with some very interesting information presented.

--Z3288196 10:48, 29 September 2011 (EST)

Peer Assessment

  • Introduction; well written. Concise and to the point, requires an image.
  • The history is too text heavy and is hard to follow. The timeline needs to summarized, includes too much of information. Try to include an image to make it look more appealing.
  • Really like the table and image in the genetic factors/etiology section. They break up the text nicely and makes it easier to understand and follow.
  • Epidemiology section should come above diagnosis. Why is treatment and management included as sub headings in the epidemiology section? It would make more sense to have them as separate sections further down. The information on epidemiology needs to be expanded a little it more.
  • Phenotype; good layout.
  • The 'other problems' subheading under cardiac conditions has no information.
  • The layout of headings and subheadings needs to be fixed. It's a bit confusing and hard to follow at the moment. For example, try to combine Genitourinary, cardiac conditions and endocrine under one heading rather than 3 separate sections.
  • The "Cognitive, Behavioural and Neurological Phenotype" sections needs images to break up the text. Try and summarize some of the information. This section looks a bit mundane compared with the rest. Requires more referencing, there only one reference per sub section at the moment.
  • Not sure if you need to include the "Specialised Facilities and Supportive Associations" section. Maybe add a link to these websites instead.
  • Current research and development is too brief, needs more information.
  • Glossary: Needs to be expanded.

--Z3291622 10:46, 29 September 2011 (EST)


Peer Review

This wiki shows a lot of promise and a lot of energy has been used into it, just needs a little more polish

  • Very text heavy, most notably in sections:Genitourinary Conditions, Cognitive, Behavioural and Neurological Phenotype, Structural Differences in the Brain.
  • You should refrain from using the words "mental retardation" as this could be deemed offensive. Use "intellectual disability" as that is a more common term now used in Australia. Also use "learning difficulty" or "developmental delay". We should also encourage the use of person-first language e.g., "a child with an intellectual disability" rather than "intellectually disabled child". This promotes the idea that a person comes before their disability.
  • Some sections could do with images just so it breaks up the info and text.
  • Structural Differences in the Brain has only one reference, yet all that info. Could you have found more references to back the section?
  • Specialised Facilities and Supportive Associations could do without. I find it distracting and could better suited as External Links or Queries.
  • Glossary needs a lot of work.
  • Current Research in comparison to the text heavy sections is lacking and in doing also in bullet point form seems out of place. Needs an overhaul.

--z3293267 10:18, 29 September 2011 (EST)


Peer Review

Some places for improvement.

  • Double spacing of paragraphs looks awkward.
  • History section would benefit by placing the information into the timeline rather than paragraphs as it is a bit hard to follow.
  • In the diagnosis section each of the hallmark symptoms could be further explained rather than just listed.
  • The management steps could be explained rather than just listed. Not enough information in this section. Treatment is very choppy, should be written in paragraphs not sentences.
  • Research could be summarised and papers talked about rather than just listing papers of current research or individuals that are researchers.
  • Glossary needs to be finished. If you didn’t have time, should have gotten rid of terms.
  • References need to be fixed. There are many that are just a web address. Full citation is needed. Several different styles of referencing used, just have one.

--z3217043 09:57, 29 September 2011 (EST)

Group 9 Peer Review

  • Introduction is well written however a simple image would make this more appealing
  • Epidemiology should be earlier in the page
  • Needs an image in history to break up the text. Even the timeline put into a table would help
  • Some headings could be more general as not to confuse the reader with scientific jargon
  • Text/image ratio is not quite balance. Less text and more images would be better
  • Phenotype section is well written-well done
  • Glossary needs to be extended
  • Referencing is fine
  • Overall, a well researched project however better organisation of text and images will help with the presentation of this information

--Fleur McGregor 09:44, 29 September 2011 (EST)


  • Intro: Clear and concise information but you definitely need an image.
  • History: Stick to the timeline, no need for long paragraphs.
  • Genetics: Love th atble and the colour is excellent. The information above the table needs to be broken down with sub-headings.
  • Diagnosis: The image needs more explanation or referred to in the writings to get a better understanding.
  • Epidemiology:Confused as to why this sections is positioned here. It should be one of the initial sections. Only one line for the entire section, because obviously management and treatment need their own section.
  • Phenotype: The student drawn image is excellent and very well suited.
  • Cardiac conditions: difficult to follow the large blocks of text.
  • Current research: Poorly done in comparison to the rest of the project. Needs more work.
  • Glossary: There is many more words that need to be in this section. A lot of terminology has been used in the previous parts.
  • Overall, great job (some parts more than others), need to make the page more cohesive by using a common formatting style, add plenty more words to the glossary and revise and trim some of the longer segments.

--z3290270 02:20, 29 September 2011 (EST)



Group 9

Hey, your page has a lot of very interesting content and some unique self drawn images. I thoroughly enjoyed this page, thanks

  1. The key points relating to the topic that your group allocated are clearly described.
    • Introduction: Inclusion of incidence would be nice
    • History: very informative and a nice simple timeline
    • Genetics: Good, succinct section, especially liked the table
    • Diagnosis: needs referencing. Is diagnosis only postnatal? What is the average age of diagnosis for this disease?
    • Management and Treatment: Seems a little out of place under epidemiology, I think it should be place later on
    • Phenotype:Reference?
    • Cardiac conditions: maybe give explanations for atrial and ventricular septal defect, just brief descriptions would suffice. Why is it so that males are more likely to suffer CVD than females?
  2. The choice of content, headings and sub-headings, diagrams, tables, graphs show a good understanding of the topic area.
    • good subheadings, interesting self drawn images. However, this page needs to find a balance in text and images
  3. Content is correctly cited and referenced.
    • needs to work on referencing
  4. 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.
  5. Evidence of significant research relating to basic and applied sciences that goes beyond the formal teaching activities.
    • research done is evident, just need to reference
  6. Relates the topic and content of the Wiki entry to learning aims of embryology.
  7. Clearly reflects on editing/feedback from group peers and articulates how the Wiki could be improved (or not) based on peer comments/feedback. Demonstrates an ability to review own work when criticised in an open edited wiki format. Reflects on what was learned from the process of editing a peer's wiki.
  8. Evaluates own performance and that of group peers to give a rounded summary of this wiki process in terms of group effort and achievement.
  9. The content of the wiki should demonstrate to the reader that your group has researched adequately on this topic and covered the key areas necessary to inform your peers in their learning.
    • very interesting content, informative
  10. Develops and edits the wiki entries in accordance with the above guidelines

"What would improve this project...."

  • referencing
  • more images
  • glossary; lacking a lor of terms

--z3291643 00:10, 29 September 2011 (EST)


Peer Review for Group 9

  • Introduction gives a well rounded view of the syndrome
  • Maybe in the history of the syndrome you can find images of the 2 historic people for the syndrome, i.e. one for william and one for beuren.
  • In the timeline, isn’t there any important contributions made between ’93 and ’06. Other than that it was well made.
  • In the table found in the genetics part of the page, Elastin row and GTF2I row has no referencing to the information presented. Please add them.
  • I think the treatment under epidemiology should have its own title as it only refers to epidemiology slightly
  • The phenotype of Williams syndrome has no referencing in this section. Also i don’t think you need a table to sort this information as it is, rather have them under little subheadings
  • The other problems subheading under cardiac conditions has no info, either put some in or remove it later.
  • Under the endocrine section, the thyroid part hasd no referencing please include it.
  • Some information in the table found in the ‘other abnormalities section lacks some referencing aswell.
  • In the structural differences of the brain section, the top 2 paragraphs lack referencing.
  • The Cognitive, Behavioural and Neurological Phenotype section was interesting to read.
  • The information under Specialised Facilities and Supportive Associations seems a bit unnecessary for this style of assignment. Rather have links to these organisations rather than having them explained on the page.
  • More current literature in regards to the syndrome could also be presented to give the reader a sense of direction in which way the research is heading
  • Glossary must be updated and expanded, many words are used that are not explained
  • Referencing is done very well
  • Need to balance picture to words ratio as it is heavy on the word side. I understand its hard to obtain, thus maybe drawing them would be better alternative.

--Z3291317 23:56, 28 September 2011 (EST)

peer review:

  • Intro and history are great lead ins to your project, but id really appreciate a picture or two for those who can't visualise what you are trying to say.
  • No glossary for those verbose words such as haploinsufficiency?
  • The order of your headings is really out of order, how can you go from aetiology to diagnosis and then back to epidemiology?

Introduction and history: These sections need pictures. It is difficult to read such a large block of text.

  • management and treatment should be well explained, not everyone knows how a urine analysis shows a person has Williams-Beuren Syndrome
  • how about subheadings under treatment?
  • I think your headings are really confusing, no logical order or why one follows the next.
  • nothing under other problems section of the cardiac conditions..?
  • combine Genitourinary, cardiac conditions and endocrine under one heading.
  • Cognitive, Behavioural and Neurological Phenotype needs to have some pictures to break up the tonne of writing!
  • whilst Specialised Facilities and Supportive Associations is a good idea, maybe just include a link instead of actually listing so much. This isn't a major part of the project so i don't think so much detail needs to be into it.
  • current research should describe what is happening..not just listing the new articles.
  • very little glossary

--Jasjit Walia 23:42, 28 September 2011 (EST)

Group 9

Introduction and history: These sections need pictures. It is difficult to read such a large block of text.

Genetics: Good section overall. The genetics could be explained in a bit more detail and the pictures could be a bit bigger.

Diagnosis: Good section- well written and clearly explained.

Epidemiology: Would be better in paragraphs not dot points.

Phenotype table: I think it would look better if the colours were changed so that it looks more professional.

Cardiac/genitourinary/endocrine: These sections need more pictures to break up all the text.

Cognitive phenotype: This section is by far the most detailed and well explained section. It would be much better with pictures though. Great work. --z3291324 23:26, 28 September 2011 (EST)


Group 9 Peer Review

  • 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.

--Leonard Tiong 22:15, 28 September 2011 (EST)

Group 9

  • The introduction is easy to read and brief. It has been referenced well.
  • The history section however is difficult to read because there is so much information. Maybe including an image would help and formatting the timeline into a table as well.
  • Maybe it would be a good idea to place epidemiology after history for the flow of the page
  • And the sub-headings underneath epidemiology deserve its own heading such as treatment and management as it has nothing to do with epidemiology
  • Phenotype of Williams Syndrome - nice piece of extra information however it is not referenced at all
  • Nothing follows after other problems...
  • Other Associated Medical Conditions - so much is dedicated to this section! maybe reduce the amount of info.
  • Furthermore the glossary is incomplete
  • However overall it is a good start. There were some good images used and the information was understandable

--z3330313 00:57, 29 September 2011 (EST)


Group 9

*The key points relating to the topic that your group allocated are clearly described. main points are there but may not be very well structured. Management and treatment are the same (even with repeated text) and i think it can be made into one section. It should also be on its own (big heading) and not under epidemiology. Also, epidemiology by itself is very limited. Treatment section is poorly structured with different sentences talking about different things.

*The choice of content, headings and sub-headings, diagrams, tables, graphs show a good understanding of the topic area. In Endocrine section, include information such as why individuals with william's symdrome is prone to such disorders. What does it relate to? Key information is there but perhaps not well structured.

*Content is correctly cited and referenced. Structural Differences in the Brain should have more references. Cognitive, Behavioural and Neurological Phenotype needs more references for that amount of text. where did you base File:House drawings Williams.jpg off?

*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. Image showing typical phenotype is good with adequate explanation.

*Evidence of significant research relating to basic and applied sciences that goes beyond the formal teaching activities. extensive use of research papers evident in the references but more in-text referencing would be good.

*Relates the topic and content of the Wiki entry to learning aims of embryology. Genitourinary Conditions could be related to embryological development as most of these conditions are traced back to fetal development.

*Develops and edits the wiki entries in accordance with the above guidelines. Mostly developed by the guidelines but some changes would be beneficial.

--z3329495 21:25, 28 September 2011 (EST)

Group 9: Peer assessment

  • The introduction is good
  • The history section is informative but may be could be kept a little shorter
  • The start of the page is quite text heavy, may be you can brake it up with a picture
  • Rearrange you page, so that you have the epidemiology section right after the history section
  • Genetic and aetiology sections are well done
  • There are no references in the Phenotype section
  • May be the detail in the foundations is a little over the top. Why not put a simple link to their web side instead?
  • The research section could be a little more detailed
  • It would be good to put more of the terms used into your glossary
  • Overall the page is interesting to read. A few more images would be nice. --z3279511 17:15, 28 September 2011 (EST)

Group 9

  • You don’t have a very good image/text ratio. More images are needed to break up the text.
  • Good information in your introduction although you need an image
  • Maybe try and condense your history just into a timeline?
  • Genetic factors and etiology and diagnosis are good and have a nice flow
  • I think the section epidemiology should closer to the beginning of your project- also not sure why management and treatment are mentioned here.
  • Phenotypes should be organised better
  • Good table for associated medical conditions
  • A few of your headings should be reformatted
  • Specialised facilities and supportive associations seems a little unnecessary
  • Glossary is incomplete


Group 9

  • Introduction: contend is fine
  • History: could be a bit shortened, otherwise good
  • Genetic and Etiology: well done
  • Diagnosis: looks good
  • Epidemiology: treatment doesn’t belong there (own section?), the contend is good
  • Phenotype: references missing
  • Cardiac conditions: well done, but what’s with other conditions?
  • Genitourinary Conditions: the contend is good, but the structure could be clearer, a table for the grading system would be nice
  • Endocrine: missing references, otherwise good section
  • Other associated conditions: looks fine
  • Cognitive, behavioural Phenotype: references missing?
  • Structural diff. in the brain: is there really only one resource? Lack of structure and subheadings
  • Special Facilities: I don’t think it is necessary to list the addresses of the foundations, and write down all their aims. The online link is enough.
  • Research: could have more detailed information
  • Glossary: incomplete
  • The phenotype sections should be put together

--Z3387190 23:20, 27 September 2011 (EST)


Comments on Group Project 9

Strengths:

  • Good use of subheadings. It gives the page a structured feel to it.
  • For most part of the references, it is good with the initiative to prevent duplication of references.
  • I really like the “Specialised Facilities and Supportive Associations” section. Parents who just found out about their child’s condition would probably want to know more and seek help and this would be good for them.

Weaknesses:

  • The history section looks really overwhelming.
  • The glossary section is poorly done, with missing definitions for some words. There are other words that should be included in the glossary but was not.
  • The image of the typical facial feature of an individual with WS looks similar to the one shown during lecture by Dr Palmer. It would be good to acknowledge what the image drawn was based on.

Specific corrections:

  • It will be good to include an image in either the introduction or history section. At least it will be able to grab some attention.
  • Reference 23 is missing its source.
  • It will be good to elaborate more on some of the research studies being done to give the readers a feel of the direction in which the research for Williams Syn is gearing towards.

--Z3389806 06:45, 27 September 2011 (EST)

Group 9: Williams Syndrome

  • First few sections are lacking in images to draw readers attention.
  • Intro: brief but still provides a good overview to the webpage.
  • History: Timeline is a great addition, but maybe consider a table format just to clean up the text a little bit.
  • Genetic factors: Good use of image and table. Also well referenced.
  • Epidemiology: I think this section would benefit from a few paragraphs of information rather than just bullet points.
  • Current research: needs more information here about the research itself, not just the foundations
  • Specialised facilities and supportive associations: is a nice touch the webpage
  • Glossary: could be expanded upon and is incomplete.

--z3332327 01:36, 29 September 2011 (EST)


Group 9 Peer Assessment

  • Introduction has clear explanation of the topic though image would liven the section up
  • History is very informative though have no images, image of the founder would suit this area. While the time line done properly and looks good but bullet points would make look better
  • Genetic factors should incorporate the image used “fig 2”, although the use of the table is well made explaining the cases of genetic transmission.
  • Diagnosis introduction done well though image “fig 3” not mentioned in the text which should also be integrated into the text.
  • Epidemiology should be first before the diagnosis and treatment would be better as its own heading and below near the end.
  • Headings needs to be more organised and some more images which are linked to the text otherwise very bulky with text
  • Current research/ future research done well and separated with sub headings
  • Glossary need to be expanded as most terms not understood without a dictionary
  • Reference 23 and 2 needs to be fixed otherwise all done well

z3332250 23:57, 26 September 2011 (EST)


Group 9 Critique

  1. • Introduction is ok. Maybe add a picture or two to make the introduction look a little bit more interesting
  2. • History is pretty good. Nice work on the timeline!
  3. • The table in the section on genetic factors is appropriate. Good job!
  4. • Diagnosis is good
  5. • Epidemiology should be after introduction, not diagnosis, but otherwise ok
  6. • The overall project is quite good, however diagnosis should be at the end and not one of the first sections
  7. • Also, is it necessary to put in information about support groups? Something to think about
  8. • Glossary is unfinished
  9. • The current research and developments section should have more information in it. Two lines of information is not enough detail

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

Peer Assessment Group 9 Williams-Beuren Syndrome

  • The introduction could use a simple image of the chromosome 7q11.23 just to make the introduction look a bit more interesting
  • History is too detailed and in a few instances a repetition of the timeline
  • An image in the timeline section will make it a bit more interesting
  • The section 'Genetic factors and Etiology' is a great balance of image, table and text. Interesting information presented simply and clearly
  • Interesting image of the deleted gene location
  • Under Epidemiology you could also talk about prevalence of the condition in certain regions of the world etc. It looks like a one sentence section.
  • The management section looks like it is part of epidemiology. You might want to reformat this to make it look like it is a topic by itself.
  • Too many one sentence paragraphs under 'Treatment'. It might be a good idea to organise the thoughts and bunch them into small paragraphs. Half a line in a paragraph doesn't look great, surely these single lines can relate to another paragraph.
  • The heading 'other problems' don't sound descriptive enough, you might want to call it, 'Associated Abnormalities'.
  • Please add 'Genitourinary Conditions' in addition to a heap of other unexplained terms in the glossary
  • I like the addition of Figure 6. It is an interesting observation.
  • The addition of support groups in Australia and other places is a useful section.
  • Overall the page has been well researched, just find a balance between texts, images and tables and it will be an informative page to refer back to.


Williams-Beuren Syndrome

  • 'Introduction' is good, but need an image to open up the page
  • Can you try to compile all that text in 'History' into the timeline? Otherwise it's a bit much and a bit repetitive; an image couldn't hurt either
  • Good work with 'Genetics', easy to read and interesting
  • Diagnosis might fit better below the signs and symptoms, ie after we know enough about the syndrome to fully appreciate the diagnosis
  • 'Treatment' doesn't really fit in 'Epidemiology', again this would be better towards the end of the page
  • Nice table for 'Phenotype of Williams Syndrome', very clear and informative
  • Your subtitles are a little confusing, you might want to try incorporating all the condions ie cardiac and genitinary into one section
  • Though the information within these sections is very good
  • You seem to be missing a lot of images, it's difficult to read when it's just blocks of text
  • For 'Cognitive, Behavioural and Neurological Phenotype' you need more references. You should back up what your saying with at least 2 references; though there seems to be a lot of interesting information here
  • 'Structural Differences in Brain' - only 1 reference for all that information? That doesn't seem very reliable
  • I like the topic 'Specialised Facilities and Supportive Associations', really interesting choice. Very good
  • For 'Current Research', instead of just an article reference, make a brief summary of the paper and describe why it is significant? Otherwise this section is a bit pointless.
  • The glossary can't hurt to be expanded..... and finished.
  • Overall, the page looks good, clearly a lot of research has gone into it. Just focus on making it more visually appealing, and work on those references


Group 9-

  • Glossary is incomplete
  • There are very few images on the page to break up the text
  • Introduction needs an image. Other than that the information is good
  • History- not sure if you need the text AND the list of dates. Maybe you could combine it all into one
  • Genetic factors and etiology- really good. Easy to understand and visually appealing
  • Diagnosis is also easy to take in
  • Epidemiology should be up the top before diagnosis
  • Also you need to sort out your subheadings. Management and treatment are not part of epidemiology
  • More information is needed on the actually epidemiology
  • Phenotype should come before treatment so we know why the treatments are necessary
  • Also- cardiac, endocrine and genitourinary conditions are part of the phenotype. Maybe consider including these in the table
  • The whole phenotype section is confusing sorry. It is ALL phenotype but you have put it in different sections. Not really sure why you have done this. It needs to be formatted better.
  • The information is all there it just isn’t organised properly
  • Do you need this? ‘Specialised Facilities and Supportive Associations
  • You have done a great job of researching and the information is all there its just really confusing sorry. You need to find a way of organizing it so that it is more accessible to the reader.


Group 9

  • The structure and use of headings and subheadings is good but i think you need to rethink the order of your headings eg epidemiology should be closer to the beginning.
  • Intro informative. maybe you could bullet point the phenotypic characteristics, just make it easier to read. could you add a picture in this section?
  • Nice history, could you maybe put your timeline into a table.
  • good use of the table in genetics and aetiology and nice to see the accompanying picture referenced.
  • I feel treatment should be its own heading and not a subheading.
  • Phenotype of Williams Syndrome- a nice easy to read section breaking up the text. Could you add anymore pictures here?
  • Genitourinary Conditions is very text heavy could you add in some pictures here or tabulate some of the information, just to keep the page flowing nicely.
  • The endocrine section should be renamed, as it does not really explain to the reader what your going to talk about.
  • Other Associated Medical Conditions- is a nice section good use of the table.
  • Cognitive, Behavioural and Neurological Phenotype section is very text heavy it needs to be broken up either by pictures or a table. but it seems like a lot of effort has been put into the research in this section.
  • Im not sure whether this section is necessary for our assessment Specialised Facilities and Supportive Associations??
  • Current research and developments should be above the preceding section and a summary of the information would be nice instead of dot points.

Group 9 Assessment

  • Great job of linking the same resource to the same reference number in the reference section!
  • The introduction and history are very thorough, but what’s missing are pictures to help it look more appealing.
  • The timeline- the information it good, but it might look better in a table format.
  • The genetic factors chart is good, but the last row doesn’t have any referencing…
  • The diagnosis section definitely needs more referencing for all of the information.
  • Epidemiology- This section could also really use some pictures to add to the section.
  • The phenotype chart also needs all of the information referenced… It might also be helpful to have more pictures, at least one for each subgroup within the chart.
  • The Genitourinary Conditions section is rather wordy… Pictures could definitely be helpful here as well as more bullet lists or possibly another chart to simplify the info.
  • The complete list of problems and associated medical conditions is rather lengthy… It might be a good idea to simplify all of this information as much as possible and simply compile it ALL together into one chart….
*The whole “Cognitive, Behavioral and Neurological Phenotype” as well as the “Structural Differences in the Brain” sections definitely need more referencing.  
  • Are support groups really necessary to be included for this project?
  • Current research could also a picture or two.
  • Not all the words are defined in the glossary, and it might look better if a bullet list were used here. Also, it would be nice to have the glossary words linked to the actual words in the wiki page for easy reference.
  • Overall, not bad. Just work on fixing the overall flow and referencing and you will be fine!

--Z3391078 16:35, 27 September 2011 (EST)


Peer Assessment: Group Project 9

  • The introduction and history of the disease are informative and it is good to have both the detailed historical information in addition to the timeline.
  • It might be good to have an image at the beginning of the page to break up the text, such as of someone prominently involved with the disease findings (John C.P. Williams or Alois J Beuren).
  • The diagnostic section only has one reference which detracts from the reliability of the section and makes the reader wonder where the information was sourced from. It is also good to place it in as if the reader desires to know more about the subject, they are able to look at where certain parts came from.
  • The phenotype section is really clear and well formatted, however there are no references in this section.
  • In general there needs to be more images/figures/graphs to help the ease of reading. For example in sections: Genitourinary Conditions, Other Associated Medical Conditions and Cognitive, Behavioural and Neurological Phenotype.
  • The section on specialised facilities and supportive associations is an additional section that really adds to the page.
  • There needs to be a picture drawn by a student.
  • Some of the definitions of words in the glossary need to be completed.

--z3217345 10:16, 28 September 2011 (EST)


  • Intro: More info about the syndrome itself needed. Add a picture if you can? The text alone is a bit dry.
  • History: ... 1952 is really not early. I'd call it a rather new syndrome if that's when it was discovered..? Otherwise, lots of info and references, which is good.
  • Genetic factors and Etiology: Looks good.
  • Diagnosis: Seems fine.
  • Epidemiology: Not sure it makes sense to have management and treatment under epidemiology? Content seems fine, though is very text-heavy, maybe find a figure to break it up?
  • Phenotype: I like the table. Gives an easy overview.
  • Cardiac Conditions: Good content. I assume the "other problems" section is still under construction?
  • Genitourinary Conditions: Content seems fine, but it's very text heavy, this really needs to be broken up somehow. Possibly use a table, or include more figures.
  • Endocrine: Endocrine what? Conditions? That title is a bit odd. Otherwise, looks good. How come the thyroid section doesn't have a reference?
  • Other Associated Medical Conditions: Good content, I like the table.
  • Cognitive, Behavioural and Neurological Phenotype: Very impressive amount of (really interesting) information, which however currently mainly consists of text. Some more figures will help break that down a bit. (Watch out with the spatial cognition part - the title is spelled correctly, but within the text it's all "spacial".) Otherwise, very well done!
  • Structural Differences in the Brain: Not quite sure it makes sense to have this section here - put it before the cognitive phenotype section, instead after? Content is very good.
  • Specialised Facilities and Supportive Associations: Interesting idea. Not quite sure it's needed cause I think we're supposed to focus on the science, but at the same time I don't see why not include it. Though your formatting makes it a very long section - I'd keep it more brief.
  • Current research and developments: A little bit too brief. You could expand a little bit more on what is being done. The links are good, but maybe give a few more examples of recent papers and reviews.
  • Glossary: Poor. MANY more terms need explanations.
  • References: Looks fine in general, though the link might need fixing, and also one reference leads to emptiness?
  • General: From the conditions sections onwards I'm not quite sure the sections and different titles you have chosen make sense, it seems a bit confusing. Maybe rethink that and try and come up with a more clear structure? Also, you need to make your structuring and how you split up a section into subsections more uniform.

Overall though, you cover an impressive spectrum of information. Well done!

Peer Review

  • interesting
  • a lot of information has been put into it but relevant and not repetive

--z3060621 21:53, 28 September 2011 (EST)

Discussion

sorry peeps... i think its a no go... doesnt have a proper clearance... so unless u wanna email her...? but it usually takes a long time to get that... :(

--z3332178 20:51, 4 October 2011 (EST)

hey guys ive found this website that has really good images but i don't know if we can use them cause i can't really find a clearance statement, but it says something about it being a site for educational benefits or something, does that count? can one of you check it out and see if we can use them

http://childrensheartinstitute.org/educate/gallery/williams.htm

--z3331556 15:28, 4 October 2011 (EST)

Hey guys...i figured out how to link the words on the page straight to the glossary. Im gonna link all of the ones that we have in the glossary so far, and then as we keep adding words just copy and paste the formatting from the ones already done! :] --z3332183 21:34, 30 September 2011 (EST)

hahaha everyone is commenting on the lack of images. yes guys, we know but there are little to no copyright free images out there.

--z3331469 14:36, 27 September 2011 (EST)

Hey, i've got no problem with that, i think it's a fair idea

--z3331469 19:06, 18 September 2011 (EST)

Hey guys ive been thinking that epidemiology isn't really in the right spot.... management and treatment should really go after all the descriptions of the abnormalities and incidence shoukd go at the beginning... so what i'm thinking is that we should split up the subheading and add incidence to the intro and have management and treatment as one heading towards the end...??? what do u guys suggest?

--z3331556 23:20, 17 September 2011 (EST)

Hey guys i found this really good article that deals with embryology in WS!! but i don't know where the info fits in...can u please have a quick glance over it and see where you think some of the info can go??? i just don't wanna mess up your parts by adding random info...

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2629217/?tool=pubmed

--z3331556 17:36, 14 September 2011 (EST)

Yay!!! Yeah thats fine...were just gonna fix our ones up...coz we have another assignment to do tonight...so you n nobby can edit all u want tonight! Ohh and yeah sure...just post up the info you have for the timeline n then ill put it into a table!!

Hey, yeh no worries, im going to be working on it for the rest of the day now that my exams are over....i ll try get as much of it done ASAP. Oh and after i finish typing up the timeline, would one of u guys format it in a table for me??? i seriously tried to do it but I got a bit confused lol Oh btw great job on the drawings!!! :)

--z3331556 13:54, 14 September 2011 (EST)

Hey sister 1 can you work on cardiac? I'll do other associated instead of sister 3.

--Z3332178 10:42, 14 September 2011 (EST)

and also, i just came across this page which is on the unsw embryo page.... http://embryology.med.unsw.edu.au/embryology/index.php?title=Talk:Williams_Syndrome#Australia_-_Support_Groups

it lists some recent papers and current research, including one of steve palmer's papers.

--z3331469 08:31, 14 September 2011 (EST)

hey guys, yes moving epidemiology up is a great idea!!!!

--z3331469 07:25, 14 September 2011 (EST)

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288273/ article for the visuospatial construction i.e. not able to draw house, bicycle etc, think this can be for our case studies...

yes i think that's a good idea, i was just about to mention that, shall i move it?? I fixed up a bit of the intro, is it ok? Btw I sware i thought i was on another page when i hit save cause all these tables and images came up, then i realised it was laticia and felicia's AWSOME WORK :), it looks really good!!! just thought i should mention that... I've spent hours trying to find images and most of the articles i've found have really good ones but we cant use them!! ahhh it's soo frustrating

--z3331556 23:58, 11 September 2011 (EST)

Also, in Marks feedback he said that epidemology should be linked earlier to diagnosis, so shall we just move it up and have it straight after diagnosis before the physical characteristics? --z3332183 23:14, 11 September 2011 (EST)


http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129970/?tool=pubmed Hey guys...heres another open access article that we can use pics from!!!

--z3332183 22:48, 11 September 2011 (EST)


i think we can all use this article http://www.ncbi.nlm.nih.gov/books/NBK1249/ --z3331556 22:06, 11 September 2011 (EST)

http://www.nejm.org.wwwproxy0.library.unsw.edu.au/doi/full/10.1056/NEJMra0903074#t=article pretty good recent article :) but i don't know if we can use the pics, can someone double check...

--z3331556 21:46, 11 September 2011 (EST)

[1] Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.

--z3332183 13:34, 7 September 2011 (EST)

Hey guys found this AWESOME article we can get pics off =D Leftward Lateralization of Auditory Cortex Underlies Holistic Sound Perception in Williams Syndrome PMID: 20808792 (forgot how to ref so this'll do for now)

--z3332178 22:51, 8 September 2011 (EST)

Hey! Yeah it think its better if they just go under the same heading because they go together and its impossible to separate them anyway...so yeah 'Genetic Factors and Etiology' should be fine...and we can add in any subheadings if we need em later... :D

--z3332183 19:54, 3 September 2011 (EST)

Hey guys i just changed the etiology, genetic factors/ cause headings, before we had genetic factors and etiology as separate headings with cause as a subheading below genetic factors and it didn't really make sense... so is it ok if we just have the heading 'Genetic Factors and Etiology'???

--z3331556 15:44, 3 September 2011 (EST)

Hey guys i just emailed Dr. Steve Palmer, will hope for a quick reply. Apparently he's taking the next lecture or something when we get back, but by then it will be too late, so it's best if we can arrange a meeting. Who wants to come with me to see him..........................................................................................=/

--z3331469 17:16, 1 September 2011 (EST)

Here's an article for diagnosis and management of the disease

[2]

Hey that's heaps good, we'll compare timetables tomorrow during the lab or something, this page is coming alongggggggggggg!

--z3331469 16:00, 31 August 2011 (EST)

Happy sister 1, you are awesome! I'll do Coronary artery stenosis, Pulmonary valve stenosis, Atrial septal defect, Ventricular septal defect if you didnt already start on any... I'm doin my williams research now so hopefully, i'll have my bit up tonight! *crosses fingers* I'm so sick of readin articles... =P Is there a time we can all go meet up with the WS proff?

--Z3332178 20:37, 30 August 2011 (EST)

Hey i found out who the researcher of WS at uni is, it's Dr Steve Palmer, here's his email s.palmer@unsw.edu.au, on the course outline it says that we have to make an appointment if we want to see him. We should try get together sometime this week or next week so we can go see him and ask about his current research???

--z3331556 18:51, 27 August 2011 (EST)

So i finally figured out how to reference on this thing, thought you guys might need help.... if you look on the main project page I've started to put some info up, so if you click on the edit button (on the side of each heading) the info and references come up, just copy and paste the ref name....blah blah part after your info BUT REPLACE THE PMID NUMBER WITH THE ONE YOU NEED FOR YOUR ARTICLE. When u save, the reference is automatically made in the reference heading at the bottom of the pages

Hope this makes sense lol

--z3331556 17:17, 27 August 2011 (EST)

Hey guys i've posted up some links to articles that may help in your research, they're on the reference list below. Oh and Felicia i think we should further split up the cardiovascular heading so we can research specific types and make them subheadings??? The OMIM clinical synopsis web page [3] has these as abnormalities associated with the heart:

Supravalvular aortic stenosis

Valvular aortic stenosis

Bicuspid aortic valve

Mitral valve prolapse

Mitral regurgitation

Coronary artery stenosis

Pulmonary valve stenosis

Atrial septal defect

Ventricular septal defect

which ones do you want to search???


--z3331556 15:22, 27 August 2011 (EST)


“The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment” by Colleen A. Morris The review article concludes that a person with William syndrome share distinct cognitive and behavioural features. The phenotype of a typical patient will be due to the deleted genes of chromosome 7 q11.23.[4]

“Impaired geometric reorientation caused by genetic defect” by Laura Lakusta, Banchiamlack Dessalegn, and Barbara Landau By testing participants in a plain or single blue walled chamber, the study was able to show that William syndrome patients show a failure to reconstruct and use geometric representations of the chamber o find hidden objecs.[5] --z3332178 22:42, 9 August 2011 (EST)

http://omim.org/entry/194050

Review Article: Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. [6]

Research Article: Elevated Ambulatory Blood Pressure in 20 Subjects With Williams Syndrome[7]

--z3331469 21:35, 10 August 2011 (EST)

--z3331469 13:19, 4 August 2011 (EST)

The genomic basis of the Williams - Beuren syndrome C Schubert. Cellular and Molecular Life Sciences. Basel: Apr 2009. Vol. 66, Iss. 7; p. 1178 [8]

--Z3332183 13:28, 4 August 2011 (EST)


J Hum Genet. 2009 Apr;54(4):193-8. Epub 2009 Mar 13. William's syndrome: gene expression is related to parental origin and regional coordinate control. Collette JC, Chen XN, Mills DL, Galaburda AM, Reiss AL, Bellugi U, Korenberg JR. Source

Division of Neurogenetics, Cedars-Sinai Medical Center and Departments of Human Genetics and Pediatrics, UCLA, Los Angeles, CA, USA.

Abstract

William's syndrome (WS) features a spectrum of neurocognitive and behavioral abnormalities due to a rare 1.5 MB deletion that includes about 24-28 genes on chromosome band 7q11.23. Study of the expression of these genes from the single normal copy provides an opportunity to elucidate the genetic and epigenetic controls on these genes as well as their roles in both WS and normal brain development and function. We used quantitative RT-PCR to determine the transcriptional level of 14 WS gene markers in a cohort of 77 persons with WS and 48 normal controls. Results reported here: (1) show that the expression of the genes deleted in WS is decreased in some but not all cases, (2) demonstrate that the parental origin of the deletion contributes to the level of expression of GTF2I independently of age and gender and (3) indicate that the correlation of expression between GTF2I and some other genes in the WS region differs in WS subjects and normal controls, which in turn points toward a regulatory role for this gene. Interspecies comparisons suggest GTF2I may play a key role in normal brain development.

PMID:19282872[9] hey guys this is one of the articles i found but i've tried getting the whole article to read but sirius doesn't seem to have this particular volume

--z3331556 18:09, 6 August 2011 (EST)


Review Article:The genomic basis of the Williams – Beuren syndrome •Williams syndrome is a genomic disorder with symptoms including mental retardation, visuospatial impairment & overfriendliness.

•It is caused due to a hemizygous contiguous gene deletion with regards to chromosome 7q11.23.

•This review article deals with the genomic assembly of the region involved in Williams syndrome as well as the chromosomal mechanisms such as deletions and duplications and the consequences of these.

Reference: Schubert, C. The genomic basis of the Williams – Beuren syndrome. Cell, Mol. Life Sci. 66:1178-1197, 2009 [10]


Research Article: Functional, structural and metabolic abnormalities of the hippocampl formation in Williams syndrome •In this study, neuroimaging (PET and fMRI) was used to investigate the hippocampal structure, function and metabolic integrity of 12 people with Williams syndrome compared to 12 healthy controls.

•N-acetul aspartate can be seen as a marker for synaptic activity and measures of this were reduced in those with Williams syndrome

•Although regular hippocampal size was maintained in both groups, slight changes in the shape were present.

•Through the results of the investigation, it was suggested that the neurocognitive abnormalities seen in Williams syndrome may be partly due to hippocampal dysfunction.

Reference: Meyer-Lindenberg A., et al. Functional, structural and metabolic abnormalities of the hippocampal formation in Williams syndrome. J Clin Invest. 115(7):1888-95, 2005 [11]

--z3332183 23:02, 9 August 2011 (EST)

ARTICLE

PLoS One. 2010 Apr 21;5(4):e10292. Intelligence in Williams Syndrome is related to STX1A, which encodes a component of the presynaptic SNARE complex. Gao MC, Bellugi U, Dai L, Mills DL, Sobel EM, Lange K, Korenberg JR. Source

Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America.

Abstract Although genetics is the most significant known determinant of human intelligence, specific gene contributions remain largely unknown. To accelerate understanding in this area, we have taken a new approach by studying the relationship between quantitative gene expression and intelligence in a cohort of 65 patients with Williams Syndrome (WS), a neurodevelopmental disorder caused by a 1.5 Mb deletion on chromosome 7q11.23. We find that variation in the transcript levels of the brain gene STX1A correlates significantly with intelligence in WS patients measured by principal component analysis (PCA) of standardized WAIS-R subtests, r = 0.40 (Pearson correlation, Bonferroni corrected p-value = 0.007), accounting for 15.6% of the cognitive variation. These results suggest that syntaxin 1A, a neuronal regulator of presynaptic vesicle release, may play a role in WS and be a component of the cellular pathway determining human intelligence.

PMID:20422020 [12]


  • Williams Syndrome presents with a distinct pattern of intellectual disabilities that differ from normal on subtests of the WAIS-R (Wechsler Adult Intelligence Scale-Revised). Found that relative to their overall performance, WS subjects tended to do well in tests of vocabulary (Vocabulary) and abstract reasoning (Similarities, Picture Arrangement), and poorly in tests of numeracy (Arithmetic), visual-spatial (Digit Symbol, Block Design, Object Assembly), and memory (Digit Span)
  • Gene expression in the tissue of interest (brain) is not possible so quantitated gene expression in lymphoblastoid (LB) cell lines
  • STX1A is best known as an important component of the presynaptic SNARE complex involved in priming of synaptic vesicles for release.
  • Data indicate that peripheral STX1A expression levels measured in lymphoblastoid cell lines strictly grown, is related to an emergent property of the CNS, intelligence.

here's the actual article [13]


REVIEW ARTICLE

Arch Pediatr. 2009 Mar;16(3):273-82. Epub 2008 Dec 18. [Williams-Beuren syndrome: a multidisciplinary approach]. [Article in French] Lacroix A, Pezet M, Capel A, Bonnet D, Hennequin M, Jacob MP, Bricca G, Couet D, Faury G, Bernicot J, Gilbert-Dussardier B. Source

Laboratoire langage, mémoire et développement cognitif, CNRS, UMR 6215, 99, avenue du Recteur-Pineau, 86000 Poitiers, France. agnes.lacroix@uhb.fr

Abstract Williams-Beuren syndrome (WBS) (OMIM# 194050) is a rare, most often sporadic, genetic disease caused by a chromosomal microdeletion at locus 7q11.23 involving 28 genes. Among these, the elastin gene codes for the essential component of the arterial extracellular matrix. Developmental disorders usually associate an atypical face, cardiovascular malformations (most often supravalvular aortic stenosis and/or pulmonary artery stenosis) and a unique neuropsychological profile. This profile is defined by moderate mental retardation, relatively well-preserved language skills, visuospatial deficits and hypersociability. Other less known or rarer features, such as neonatal hypercalcemia, nutrition problems in infancy, ophthalmological anomalies, hypothyroidism, growth retardation, joint disturbances, dental anomalies and hypertension arising in adolescence or adulthood, should be treated. The aim of this paper is to summarize the major points of WBS regarding: (i) the different genes involved in the deletion and their function, especially the elastin gene and recent reports of rare forms of partial WBS or of an opposite syndrome stemming from a microduplication of the 7q11.23 locus, (ii) the clinical features in children and adults with a focus on cardiovascular injury, and (iii) the specific neuropsychological profile of people with WBS through its characteristics, the brain structures involved, and learning.

PMID:19097873 [14]

--z3331556 19:40, 10 August 2011 (EST)

Here's the image i showed you guys

Distribution of quantitative transcription of genes deleted in WS

--z3331556 12:23, 12 August 2011 (EST)


Auditory Cortex Location - Comparison Between Control Subject and WS Subject.jpg

--z3331469 17:33, 16 August 2011 (EST)


The frequency of SD cells for RB1 and SNRPN in WS and control individuals.

The frequency of SD cells for RB1 and SNRPN in WS and control individuals

--z3332178 23:22, 16 August 2011 (EST)


I've found a good case study for WS, maybe we could have a case study sub-heading?? [15]

--z3331556 13:38, 17 August 2011 (EST)

Suggestions for areas of research

I thought I could get the ball rolling, let me know if you want to add or remove anything.

INTRODUCTION

(z3331556) -What is William’s Syndrome?

History of the disease

(z3331556) -How it was discovered -Who discovered it? -Timeline of how knowledge developed

Etiology

(z3332183) - Cause - Susceptibility of the patient

Diagnosis

(z3332183) -How it’s detected (tests/examinations) -How soon it can be detected?

Genetic Factors

-deletions (all)

Physical Characteristics

-Facial characteristics etc. (z3332178)

Associated medical conditions

-Cardiac abnormalities (z3331556),(z3332178)

-Renal abnormalities (z3331469)

-other (hoarse voice, inguinal hernia, orthopaedic problems, hypercalcaemia etc.) (z3332183)

Cognitive, Behavioural and Neurological Problems

(z3332178)

Epidemiology

-Incidence, distribution, and control of disease (z3331469)

Management/treatment

-Treatment of individual symptoms, avoid taking increased levels of calcium and Vitamin D (z3331469)

Specialized Facilities/ supportive associations

-Williams Syndrome Foundation (UK), Williams Syndrome Association (all)

Case studies

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288273/

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2862007/

Interesting facts

(all)

Current research and developments

(all)

References

http://www.cddh.monash.org/assets/williams-synd.pdf

--z3331556 18:09, 17 August 2011 (EST)

http://books.google.com.au/books?id=qvKaSNg0pUcC&pg=PA158&lpg=PA158&dq=Williams+and+Barrett-Boyes&source=bl&ots=0SIpaamHuh&sig=4ouDsgFvt8XBbuwKPThFGWX9b4Y&hl=en&ei=8F5MTurlGuuNmQWA6eCyAg&sa=X&oi=book_result&ct=result&resnum=7&ved=0CEMQ6AEwBg#v=onepage&q=Williams%20and%20Barrett-Boyes&f=false

--z3331556 13:09, 18 August 2011 (EST)

Williams Syndrome Foundation, accessed 22 August 2011, http://www.williams-syndrome.org.uk/

Williams Syndrome Association, accessed 22 August 2011, http://williams-syndrome.org/

--z3331469 13:12, 22 August 2011 (EST)


http://omim.org/clinicalSynopsis/194050 this is a clinical synopsis that is a good starting point for medical and physical abnormalities, it basically lists all complications associated with WS. I think we can use these as subheadings???

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1728781/pdf/v080p00205.pdf This is a source for cardiac abnormalities

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2946897/?tool=pmcentrez

http://www.nature.com/ejhg/journal/v18/n1/full/ejhg2009108a.html

These last two are basically introductory info on WS and they have info for the Genetics heading

--z3331556 15:44, 27 August 2011 (EST)

http://books.google.com.au/books?id=9E9q5112WBgC&pg=PA151&lpg=PA151&dq=hallux+valgus+in+williams+syndrome&source=bl&ots=LdaFmjSds_&sig=QW_9bjbIgo44rXQrwKTh2TF5hSo&hl=en&ei=__teTu2oNMjEmAXCx80B&sa=X&oi=book_result&ct=result&resnum=4&sqi=2&ved=0CCwQ6AEwAw#v=onepage&q&f=false

--z3331556 13:38, 1 September 2011 (EST)

http://www.ncbi.nlm.nih.gov/books/NBK1249/ another good source

--z3331556 14:39, 3 September 2011 (EST)

Peer Assessments

  • Intro was good, it was brief and straight to the point
  • The beginning paragraphs of the history could be more summarised especially considering that you have a timeline beneath
  • Your use of a table for the genetics’ component was great. It was easy to read and concise. It was a different approach but it worked well.
  • More information could have been added to the treatment section such as comparisons between key methods/strategies, the pros and cons
  • The phenotype section was well set out although I believe it should have been placed up after the genetics section so that the information flows more consistently
  • The layout of the implications section was slightly unclear. Maybe here you could have large heading for implications, followed by a list (dot point) of the implications occurred then have in paragraph form a description of each. Having headings such as: Other problems and other associated medical conditions tended to drag on this segment.
  • The inclusion of the supportive associations was a nice little touch!
  • Great use of referencing

--z3332629 15:30, 22 September 2011 (EST)