Difference between revisions of "Talk:2011 Group Project 8"

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* Maybe include a glossary so you can accommodate for all readers.
* Maybe include a glossary so you can accommodate for all readers.
* It was good to see that you grouped your references :)  
* It was good to see that you grouped your references :)  
--[[User:Z3332629|Ashleigh Pontifex]] 15:29, 22 September 2011 (EST)
--[[User:Z3332629|z3332629]] 15:29, 22 September 2011 (EST)

Revision as of 16:29, 22 September 2011

Group 8: User:z3294943 | User:z3389343 | User:z3329495 | User:z3332250


--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

--Mark Hill 18:28, 11 August 2011 (EST) Your group left the lab today without notifying me of your selected group topic.

Sorry, we were the group that hadn't quite made up their mind yet, as you said we should have a think but decide within the next few days, we thought we didn't have to make a decision on the spot. Sorry, we will make our choice soon. --z3389343 18:40, 11 August 2011 (EST)

Hi guys! I agree with Elina we should just contact each other via this discussion page. I have checked out some topics and I think Duchenne Muscular Dystrophy and Angelman's syndrome look very interesting. They have many components associated like cognitive and skeletal disabilities.. Anyway let me know what you think or if you guys have looked into any topics yourselves. I also think we should meet next week if we all have a break in between the lecture and lab would you guys like to meet then? --z3294943 11:47, 6 August 2011 (EST)

Sorry I couldn't write at the bottom of page I'm on my iPhone. I think we need to choose some with both anatomical changes as well as neurological and I think duchenne MD and angelman's fit those categories. They are also both genetic so let's look into both as another group maybe interested in either topic. So let's come to the lab with the two journal article required and have our first choice ready and decide during the break. How does that sound?

--Karmen Magi 07:32, 8 August 2011 (EST)

(Shifted Elina's contribution to discussion page. --Z3329495 22:45, 7 August 2011 (EST)) Hey all,

I had a look at the list and thought I'd start making some suggestions. I am a neuroscience student, so my interest lies in anomalies that are related to the nervous system, but I won't insist on doing something about that if noone else wants to!

Here are the ones that so far seem most appealing to me:

  • Holoprosencephaly: the forebrain of the developing embryo fails to fold into two hemispheres. Caused by Hox genes failing to activate along the midline of the developing brain. (I've done uni stuff on Hox genes before, so I know where to start looking for material.)
  • Angelman's Syndrome: neurogenetic disorder with a variety of clinical features. characterised by a loss of a region of chromosome 15. this loss can be the result of varying genetic problems, including gender-related epigenetic imprinting, which makes me think that the genetics behind this Syndrome are very interesting (but I totally understand if that's just me).
  • Fragile X syndrome: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002633/ again, I find the genetics behind this very interesting.

Then here's a list of the ones I wouldn't recommend doing:

  • DiGeorge's Syndrome, Farber's Disease, Anencephaly, as there seems to be very little known about that (correct me if I'm wrong!)
  • Turner's & Klinefelter Syndromes, Cystic Fibrosis - I'm just not particularly interested in them/sick of them (sorry)

And here are some I had a look at and feel neutral about:

  • Williams Syndrome, Duchenne Muscular Dystrophy, Osteogenesis Imperfecta, Friedreich's Ataxia, Lesch-Nyhan Syndrome.

As you see, I didn't go through the whole list.

Let me know what you think :)

--Elina Jacobs 18:43, 7 August 2011 (EST)

Hi guys,

Duchenne Muscular Dystrophy sounds quite interesting to me - the anatomical changes (musculoskeletal) would be something i'm more comfortable in as i haven't done any physl, neuro or genetics course. as i'm an anatomy major i think i can contribute more with physical changes - as for molecular problems i'm not very strong with that. Meeting up before the practical on Thursday sounds like a good time to meet up. --Z3329495 22:45, 7 August 2011 (EST)

Hey All

looks like I'm last to contribute though, even so i did some searching for journals and reasearch papers and there is a fair bit on Duchenne Muscular Dystrophy though i am sorry i wasn't able to find a abnormality myself as it was my Mums birthday on the weekend so was busy planning that so i will find one by the next lab. Also im free the gap before the lab so if we are meeting after the lecture then I'm available.

--z3332250 22:29, 8 August 2011 (EST)


--z3294943 19:28, 8 August 2011 (EST)

There are at least two other groups that are looking at Duchenne Muscular Dystrophy, so I think it's good if we keep Angelman's Syndrome as our consideration as well. I think that still has enough anatomical features to it, and as I've done some molecular biology & genetics, I'd be happy to be the one focusing on that aspect. I'll try and find research and review articles on that today, so we can compare on thursday! --z3389343 11:15, 9 August 2011 (EST)

Sure thing, so we're looking up articles on angelman's syndrome then?

Review article: http://jmg.bmj.com/content/40/2/87.short Research article: http://jmg.bmj.com/content/38/12/834.abstract

--Z3329495 11:45, 9 August 2011 (EST)


I choose to do a congenial abnormality more related to anatomy abnormality of the cleft and cleft pallets.


--Ryan Tran 12:39, 9 August 2011 (EST)

Here are two more about Angelman Syndrome:

--z3389343 21:09, 9 August 2011 (EST)

hey, the second link seems to be broken? --Z3329495 22:25, 10 August 2011 (EST)

Hi everyone, I think we need to choose exactly what we are doing for the assessment before the week end. I checked out holoprosenchephaly i think it is really neuro based and from what i have read ryan and i would like to do something more anatomical.. maybe we could try and decide on something that has all the components we are interested in and by the end of the weekend have made a decision.

I thought maybe Friedreich Ataxia kind of embodies all aspects we are interested in.. It is a defect of the nervous system which lead to muscular problems, special sensory organ problems, diabetes, heart problems and the genetics are well understood.. from what i see there is quite a lot of info on it.. so can we please come to a decision soon.. I think it will be easy to section think disease up eg history, embryonic development, the abnormality and when/where.how it occurs, the genetic component, neurological problems, skeletal muscle degeneration, structural/anatomical problems in the heart optic and auditory, diagnosis, treatment and what may happen in the future. let me know what you think or if you have any other disease with similar categories so everyone in the group is happy with our choice. --z3294943 17:37, 11 August 2011 (EST)

Jup I'm happy with that, as I've kinda mentioned already above, it's one of the topics that I'm not fuzzed about either way. If the others agree, I'm happy to go ahead. And thinking about it, it will probably be easier than deciding on a particular case of holoprosencephaly that will make everyone happy. --z3389343 18:40, 11 August 2011 (EST)

Hey everyone this link from omim might give us better understanding of Friedreich Ataxia..[1] If you guys have any other suggestions please let me know soon. As I would like to get start on categorising the aspects of the disease we choose and dividing them among the group.. have a good weekend! z3294943

read the link provided - looks good to me! seems pretty interesting in that you only get onset in late childhood to early teens. I'll be happy to do Friedreich ataxia. --z3329495 22:20, 13 August 2011 (EST)

Ok great so have we decided on Friereich Ataxia?? DId you all want to meet in the computer room before the next lab in the break we have on thursday. Sorry i missed it last time but i thought we were meeting in the comp room and by the time i went to the lec room you were all gone :( I think we should discuss the aspects we want to research maybe we could all come with a few ideas that we each find interesting for thursday? What do you guys think? --Karmen Magi 11:09, 14 August 2011 (EST)

I came across Rubinstein-Taybi syndrome and thought that seemed quite interesting so I thought I'd suggest it: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002229/. Though if we're all happy with Friedreich's Ataxia let's go ahead with that. Aren't we missing somebody's opinion still? --z3389343 15:02, 14 August 2011 (EST)

Oxidative Stress Response in Friedreich Ataxia

--Karmen Magi 11:43, 14 August 2011 (EST)


i think that's everyone? So we're settled on Friedreich's Ataxia? --z3329495 10:17, 15 August 2011 (EST)

Gene expression responses of Friedreich's ataxia

Im ok with with Friedreich Ataxia it looks interesting I got nothing wrong with it.

--z3332250 23:48, 15 August 2011 (EST)

Pathogenesis of Friedreich Ataxia

--Amanda Tan 11:30, 16 August 2011 (EST)

Ok great so i think we have finally decided! Are we still ok to meet between the lecture and lab this thursday? I think we should started working out what aspects of the disease we are interested in and what should be included on the wed page.. Could we all come with some ideas like pathogensis etc let me know if you guys want to meet.. if so i think the computer room would be best. --Karmen Magi 20:20, 16 August 2011 (EST)

Yes that sounds good to me. And meeting in the computer room is fine, provided it is free, which I assume as it seemed to be last week? --z3389343 22:10, 16 August 2011 (EST)

Suggested Outline:

  1. Background:
    1. History
    2. Epidemiology
  2. Genetics:
    1. Inheritance
    2. genetic expression (pre- and postnatally)
  3. Pathogenesis:
    1. first genetics aspect
    2. lead into physiology
  4. Pathophysiology & Clinical Symptoms - link them together
  5. Clinical aspect - split it into symptoms and complications
  6. Diagnosis (in table)
  7. Treatment (include genetic sreening)
  8. Current Research
  9. Glossary
  • Amanda: pathpart of cardio & musculature, pathpart of pathogenesis, diagnosis
  • Elina: Genetics, molecular & cellular parts of neurophysio aspect, current research
  • Karmen: Neurophysiology aspect, background
  • Ryan: Treatment, physiopart of pathogenesis, physiopart of cardio and musculature

everyone: make drawing, decide at the end which one we think is best, find video of possible

Karmen, i think this might be of interest to you. It includes historical information on Friedreich's ataxia: Friedreich’s ataxia: Pathology, pathogenesis, and molecular genetics

Elina, this might be of use to you? HDAC Inhibitors Correct Frataxin Deficiency in a Friedreich Ataxia Mouse Model I tried reading through it but too much vital information about genetics just went right over my head. It looks promising in terms of research into treatment. Also: The Structure and Function of Frataxin Possibly useful in genetics component when describing frataxin?

Novel treatment: Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich’s ataxia

--Z3329495 19:31, 19 August 2011 (EST)

Hi all, i'm having trouble locating information on the muscular effects of Friedreich's Ataxia. I've found much more information on the cardiac aspect of Friedreich's Ataxia but if anyone has found anything even mentioning muscular effects please let me know! all the papers i've located only mentions it in one or two lines.

--Z3329495 19:03, 22 August 2011 (EST) Antioxidant treatment: http://www.ncbi.nlm.nih.gov/pubmed/15824263

Prenatal detection of Friedreich: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320340327/abstract

Pathology and pathogenesis of sensory neuropathy in Friedreich's ataxia. http://www.ncbi.nlm.nih.gov/pubmed/20339857 The dorsal root ganglion in Friedreich's ataxia. http://www.ncbi.nlm.nih.gov/pubmed/19727777 --z3294943 10:32, 25 August 2011 (EST)

Mitochondrial impairment of human muscle in Friedreich ataxia in vivo: http://www.sciencedirect.com/science/article/pii/S0960896600001085

Elina, if you could find this article it'd be a great help - A preliminary study of dynamic muscle function in hereditary ataxia.: http://www.ncbi.nlm.nih.gov/pubmed/7214252

--z3389343 17:23, 25 August 2011 (EST) so I can get access to this journal via Edinburgh Uni, but for some strange reason, there is no full text..? it's really weird. sorry :/

I found some things as well on Signs and a bit on heart:

Chest pain during exercise as first manifestation of Friedreich's ataxia.[1]

Left ventricular function in Friedreich's ataxia. An echocardiographic study.[2]

Coronary disease, cardioneuropathy, and conduction system abnormalities in the cardiomyopathy of Friedreich's ataxia.[3]

Friedreich's Ataxia as a Cause of Premature Coronary Artery Disease[4]

  1. <pubmed>484058</pubmed>
  2. <pubmed>482403</pubmed>
  3. <pubmed>1277199</pubmed>
  4. <pubmed>1894724</pubmed>

Ryan Tran 10:55, 25 August 2011 (EST)

Carnitine therapy and muscular biopsies http://jcn.sagepub.com/content/17/6/453.full.pdf+html http://www.ncbi.nlm.nih.gov/pubmed/12174969 --z3294943 10:59, 25 August 2011 (EST)

Cognitive impairment in spinocerebellar degeneration. it could be interesting to talk about cognitive elements of FRDA http://www.ncbi.nlm.nih.gov/pubmed/19295212

Chelator and vehicle effect on hematological indices. This is of note for using Chelator as a treatment option for FA (in particular cardiomyopathy).

For the glossary, i think we should bold the words we've put in the glossary for easy reference. what do you guys think? i've done two words in that style so see if you think it'll be a good idea to do. --Amanda Tan 16:32, 25 August 2011 (EST)

For the current research: http://www.future-science.com/doi/abs/10.4155/cli.11.93?journalCode=cli --z3389343 22:18, 25 August 2011 (EST)

Also, I think there will be different genetic factors that will have influences on the severity of the syndrome, I'll mention that in my genetics bit but won't go into detail about what the actual pathophysiology is, I'll just introduce it and then somehow mention that the pathophysiology will be dealt with in subsequent sections. Does that sound alright? Here's an example: http://www.ncbi.nlm.nih.gov/pubmed/11269509 Also, if you find there's a genetic component mentionned, just let me know about that article and I'll make sure I cover the genetic explanation, so you can just mention that for details on the genetics, refer to the genetics section. Do you think that makes sense?

I think you could just add it into the pathophysiology part since you already read it? Right now i've just been reading all articles related to cardio and adding them into the relevant sections. Not that you should do other sections, but i think if you come across something relevant to another section it'd be easier if you just added it in rather than have the person doing that section read it all again to add it in?

Hey elina this might be helpful in understanding the frataxin gene. http://www.springerlink.com.wwwproxy0.library.unsw.edu.au/content/237n26h5wj083865/ -z3294943

Prenatal diagnosis FRDA http://www.ncbi.nlm.nih.gov.wwwproxy0.library.unsw.edu.au/pubmed/9742572 -z3294943

what is the intron-1 of the frataxin gene? the paper "The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich’s ataxia" mentions it as an important part for ventricular hypertophy in relating GAA repeats in the intron-1 of the frataxin gene.

Iron-overload cardiomyopathy: pathophysiology, diagnosis, and treatment. can someone please help me find this article? the UNSW database seems to have it but it won't allow me access to the full article even after opening it from Sirius.

explanation of an intron:

I guess you know how the coding bit of a gene is transcribed from DNA to mRNA (messenger RNA), which then gets translated into protein? basically, the preliminary RNA transcript you get is hardly ever translated into protein as such, there are a few modifications that happen first. one of these is that parts of the mRNA get cut out - this is called splicing. the bits that are cut out and not used for the translation are called introns. why exactly this mutation that sits in the intron, hence the part that is cut out, has such a big effect is quite interesting; haven't had the time to read thoroughly through the papers yet to find out why exactly that has an effect. but does this explanation help so far? so intron-1 would be the first bit that is cut out of the mRNA molecule you get from the frataxin gene.

Hey guys! here are some ways of diagnosis/characterising the progression of FRDA

  • electromyogram (EMG), which measures the electrical activity of muscle cells,
  • nerve conduction studies, which measure the speed with which nerves transmit impulses,
  • electrocardiogram (ECG), which gives a graphic presentation of the electrical activity or beat pattern of the heart,
  • echocardiogram, which records the position and motion of the heart muscle,
  • blood tests to check for elevated glucose levels and vitamin E levels, and
  • magnetic resonance imaging (MRI) or computed tomography (CT) scans, tests which provide brain and spinal cord images that are useful for ruling out other neurological conditions.

and i have been seeing this come up alot for treatment [2] [1] --z3294943 19:39, 29 August 2011 (EST)

guys, you scare me with the amount of info you've already put up, but it's looking good! I really don't want to be lagging behind but I'm really stressing out with what I need to do this week, I'll try to put some stuff up but it won't be much. I promiss I'll work intensively on it the week it's due, cause before that I just won't have much time. sorry! I do have a couple more genetics related references, they're on my own student page at the mo as I didn't wanna keep adding them randomly into the discussion, but thought it would be better to just put them here once I have a reasonable pool together that I've gone through and checked for relevance.

A possible teratogen? Taurine.. http://www.ncbi.nlm.nih.gov/pubmed?term=friedreich%20ataxia/embryology&cmd=correctspelling

Hi guys just with in text referencing eg... Tsou et al, (2011) [2] lets just do the last name of first author et al and date + ref after!

Hey Ryan, could you do the table up (about the stuff carmen mentioned today) in diagnosis?

Hi guys! hope your enjoying you time off! I came across this book on pubmed it has PMID [3] i think we all should have a look it has alot of info!! hope you find it helpful! --z3294943 11:10, 5 August 2011 (EST)

Looks great! thanks! it'll help with the treatment section! --z3329495 22:09, 5 September 2011 (EST)

I've edited the treatment section but the person who filled in information on antioxidants please go through it and rewrite some of it. I didn't know all the information so i was hesitant to edit anything. Also include a sentence or two explaining why antioxidant treatment will work. --z3329495 18:03, 8 September 2011 (EST)

Our references are missing?! i just noticed it! i fixed up some strange references, but it didn't fix it! if it doesn't reappear by next week we should talk to Mark.

--z3329495 19:51, 8 September 2011 (EST)

Hi guys, Are we able to meet on the wednesday of next week?? I think we really need to go over this project. We also need to add in more picture. So please if you find anything related to your subject please add it in. I am having trouble finding any picture that i am able to reuse so im having to draw alot of mine. so even if you cant find something please add a drawing or video. just to reiterate what sections everyone is meant to be working on:

  • Amanda: pathpart of cardio & musculature, pathpart of pathogenesis, diagnosis
  • Elina: Genetics, molecular & cellular parts of neurophysio aspect, current research
  • Karmen: Neurophysiology aspect, background, history
  • Ryan: Treatment, physiopart of pathogenesis, physiopart of cardio and musculature

everyone: make drawing, decide at the end which one we think is best, find video of possible

Amanda are you doing diagnosis?? I think there is a few other ways that can be used like MRI/ECG. It might be interesting to add these in with pictures??

What do you think? And Ryan I thought maybe we could add in some treatment option for the deformities like scoliosis? Ie surgery.. Is there anything to aid with pes cavus? Have patient been able to survive heart transplantations? as this is the main cause of death would it help if they received a transplant? I have also read some info about 5-hydroxytryptophan being used as an option of treatment. Anyway let me know what you guys think? --z3294943, 9 September, 2011 (EST)

Hi, yes i'm working on the table of stuff for diagnosis - its on my student page since i'm not done with it yet i didn't want to post it on the main page. Wednesday of next week is fine for me.

--z3329495 22:41, 9 September 2011 (EST)

Well for treatment i could only find clinical tested treatments for mainly cardiac related, but i think its a good idea for treatment for scoliosis. One more question has anyone done a hand drawing yet?.

Ryan Tran 10:44, 10 September 2011 (EST)

I've put up the scoliosis one for the drawn image. also, there is new research into a different kind of iron chelation drug called deferiprone http://www.ncbi.nlm.nih.gov/pubmed/21791473 I've used a bit of this in the diagnosis for MRI (since this paper used MRI technology) but i think it'd worthwhile to put it into the current research. --z3329495 14:18, 10 September 2011 (EST)

Is Elina working on prenatal diagnosis? I've included prenatal and genetic testing in the table i'm working on but i have no information on either. I'm just about finished with the table so i'll just post it on the main page to see how it looks like and what you guys think of it. --z3329495 17:26, 10 September 2011 (EST)

What time we all meeting on Wednesday? and where?

Ryan Tran 23:42, 12 September 2011 (EST)

Hi guys, unfortunately I am unable to come tomorrow i have some family issues. sorry! but i think that thurs will be ok just for final lay out decisions. We need more pics.. so maybe we could all find 2/3 each i think think that would brighten up the page!! If you guys still want to meet tomorrow you can. z3294943

Hi guys, yes I (Elina) am working on prenatal diagnosis - do you want me to simply do it in the same kind of table format, and not have a subsequent section about it beneath? I think the table looks good, and I'd probably just be repeating myself. --Elina Jacobs 19:14, 13 September 2011 (EST)

Hey Elina, could you just post a link to that paper with the muscular info here? I can get something knocked out as soon as. --z3329495 13:26, 16 September 2011 (EST)

Hi guys, I heard today that monday maybe the last day we can upload something for the peer review. So if you have anything else you would like to add please get it done before then just incase! I hope everyone has a great weekend! --Karmen Magi 20:16, 16 September 2011 (EST)

Amanda, here's the reference I was telling you about: Massimo Pandolfo Friedreich ataxia. Handb Clin Neurol: 2011, 103();275-94 PMID:21827895 It's a 20 pages review on what is known about FRDA so far, hopefully you'll find some useful stuff about the muscular aspect in it!

Ryan: here's the genetics treatment article I was talking about: http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0001958 let me know if you're struggling with the genetic "jargon" and I'll help you out.

--z3389343 11:44, 17 September 2011 (EST)

Hey Elina, there isn't anything much on the muscular system in that review but i found a paper which i cannot get access to on the UNSW database. If you could access it through your university it would help me a ton! | Natural history of muscle weakness in Friedreich's Ataxia and its relation to loss of ambulation.

Oh no, sorry about that! Also, your link doesn't work for me :/

Should work now - must be because i didn't put a space somewhere...

Sorry, but I can't get access to it either...

Peer Assessments

  • Epidemiology was a bit brief and perhaps could be expanded on or supported with statistics from multiple nations etc.
  • Aetiology section was really detailed and had a great span of information. Your image of the Friedreich’s pedigree could perhaps be slightly bigger on the page because I missed it the first time viewing your page.
  • The neuropathology section was extremely ‘full’. The amount of text in heavy paragraphs may be off putting to some readers. A suggestion would be to break it down with the inclusion of tables and maybe dot-pointing the information that can be summarised.
  • Maybe include a glossary so you can accommodate for all readers.
  • It was good to see that you grouped your references :)

--z3332629 15:29, 22 September 2011 (EST)

  1. <pubmed> 21392622</pubmed>
  2. <pubmed>21652007</pubmed>