Talk:2011 Group Project 5

Group 5: User:z3290618 | User:z3290689 | User:z3290808 | User:z3290815

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;"

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Discussion

@Ziggy, done and done @Tara, I can try but I have to do something first. --Boris Zolotarev 10:39, 25 August 2011 (EST)

Yo Boris, You do Etiology, I'll do signs and symptoms. We can work towards the middle. That leaves history and epidemiology to Tara and Recent research to Sandra. And then we can all refine it/make an intro. We can at least do that to start with. Also: can everyone contribute to the glossary. If you find any terms that people (eg. me) wont understand, please keep them.--Ziggy Harrison-Tikisci 10:10, 25 August 2011 (EST)

The only reason why we need to put our names down now is to satisfy the weekly individual assessment but of course we can change things. Just put your name down for epidemiology or whatever was left over and we'll discuss it tomorrow. Maybe if we could get to the lab 10-15min earlier because we never get enough time at the end of the lab?

--Tara Lofthouse 19:50, 24 August 2011 (EST)

Just skimmed through this (damn I left it late >< ), should I nominate something now or should we discuss it tomorrow? Also, what do you guys think of having some sort of realtime chat method? Facebook or something of the sort... --Boris Zolotarev 19:17, 24 August 2011 (EST)

Yeah i know but the ones i put my name down for are really not that lengthy. We definitely need to have a chat tomorrow. --Tara Lofthouse 17:45, 24 August 2011 (EST)

Hey guys, you haven't left much for Boris and i to do lol .. I don't mind doing the recent research part - focussing on autism and fragile x.. but then i don't know what Boris would do? I will sign my name for now but i think we will have to change it around a little to better make the work load equally spread.

Cheers, --Sandra Issa 16:17, 24 August 2011 (EST)

I've taken it all on board and changed it. I'm fine for you to do whatever you want but doing both the genetic component and the signs and symptoms might be a lot of work. As long as everything is spread evenly i don't mind :)

--Tara Lofthouse 16:35, 23 August 2011 (EST)

Hey, I was wondering if anyone minds if I do 'Genetic contribution'. Also, is it okay if I follow the timeline of the disease? I will start with the chromosome, saying what the defect causes at a molecular level, and then when it first presents, and how it affects the development etc up until how it presents in the adult. Which means I'd probably do "Signs and symptoms (clinical Presentation)" as well. ALSO, we need to do a brief history of the disorder. So, below I've just tweaked the layout Tara and Sandra put up: let me know what you think

Introduction
History of Disease
Epidemiology
Etiology
- Genetic contribution
Development of Disease
- Fetal Development
- At birth
- In Adult
  - Signs and symptoms
Recent research
- Fragile X and Autism
- Diagnosis
- Treatment

--z3290618 15:18, 23 August 2011 (EST)

Yeah, i think it makes sense how you've got it Sandra. However like Boris said maybe instead of having the heading "Autism and Fragile X Syndrome" maybe we could have recent research/current studies or something along those lines and include it there along with diagnosis and treatment? Do you think that etiology is too similar to genetic contribution?

ALSO!!! What headings would you like to research? I set up a "Who's doing what?" heading on this page to sign your name next to.

--Tara Lofthouse 12:39, 23 August 2011 (EST)

Hey guys, i have come up with a couple of headings that we can use:

Introduction (short summary)
Epidemiology
Signs and Symptoms (Clinical Presentation)
Etiology
Genetic Contribution
Autism and Fragile X syndrome
Diagnosis?
Treatment?
References

Tara i also like the format that you have included below.. i basically have made something similar but in different order based on what i think should come first perhaps? The ones with a question mark beside them are ones that i am unsure if we should include or not. Let me know what you think! Cheers, --Sandra Issa 12:03, 23 August 2011 (EST)

Hahaha of course it's your place to say so.. good suggestion, i'll fix it up now and if we want to change it again than that's no problem. I just thought i'd put something up to get started and we can go from there. What i've done is no where near completed. --Tara Lofthouse 18:52, 22 August 2011 (EST)

(I know it's not my place to say so before I've submitted my own suggestion but) I think I'd put "Autism and Fragile X Syndrome" within the "recent research" subtopic. I'll put up a suggestion by tomorrow evening, if not earlier. --Boris Zolotarev 09:27, 22 August 2011 (EST)

Hello everyone, what do you think about using the following headings for our project? Are there ones that you think we could omit or ones that you would like to add? We also need to decide on who is doing what.

Signs and symptoms
Diagnosis
Genetics
Etiology
Epidemiology
Treatment
Recent research
- Autism and Fragile X Syndrome
References

--Tara Lofthouse 16:26, 21 August 2011 (EST)

Group project --Ziggy Harrison-Tikisci 12:58, 4 August 2011 (EST)

OMIM--Ziggy Harrison-Tikisci 12:59, 4 August 2011 (EST)

Here's another interesting topic.

Apert Syndrome aka acrocephalosyndactyly --z3290689 11:38, 11 August 2011 (EST)

Congenital Hypomyelinating Neuropathy

What do you guys think you of this topic Congenital Hypomyelinating Neuropathy?

There are quite a few articles on it:

Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination.

Analysis of congenital hypomyelinating Egr2 Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination.

P0 Glycoprotein Overexpression Causes Congenital Hypomyelination of Peripheral Nerves.

Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg–Hirschsprung disease: Phenotypes linked by SOX10 mutation.

A lot of them overlap with their findings and the focus of their studies, so it seems to be a pretty thorough topic.

--Boris Zolotarev 21:03, 7 August 2011 (EST)

I’m all for doing Congenital Hypomyelinating Neuropathy as our topic.

Here are some articles I have found:

Research Articles:

Congenital Hypomyelinating Neuropathy with Lethal Conduction Failure in Mice Carrying the Egr2 I268N Mutation

Describes the engineering and characterisation of a mouse carrying the I268N mutation in Egr2.

The proper formation of myelin by Schwann cells requires a series of transcription factors including SOX10, SCIP/Oct6, Egr2, and Nab1/Nab2.

A loss of these transcription factors disrupts the myelination process, as does persistent overexpression.

This was observed in patients with recessively inherited Charcot–Marie–Tooth (CMT) disease type 4E, which is predicted to alter the ability of Egr2 to interact with the Nab transcriptional coregulatory proteins.

Charcot–Marie–Tooth disease (CMT) is a common inherited disorder of peripheral nerves characterized by progressive sensory loss and weakness beginning in the feet and legs, and later progressing to the hands

Mice homozygous for Egr2I268N developed a congenital hypomyelinating neuropathy similar to human counterparts.

Egr2I268N is expressed at normal levels in developing nerve but is unable to interact with Nab proteins or to properly activate transcription of target genes critical for proper peripheral myelin development.

Egr2I268N/I268N mutant mice maintain normal weight and have only mild tremor until 2 weeks after birth, at which point they rapidly develop worsening weakness and uniformly die within several days. Nerve electrophysiology revealed conduction block, and neuromuscular junctions showed marked

Congenital hypomyelinating neuropathy

Describes the symptoms of two patients with congenital hypomyelinating neuropathy

Hypotonia = low muscle tone (amount of tensio