Wikipedia:Peer review/Leopard syndrome/archive1

Leopard syndrome

I have expanded this stub article with an eye towards nominating this as a good article, I believe the rarity of the illness itself precludes FA status-I may be wrong. There is one area of lack that I am strongly aware of and attempting to remedy and that is a lack of images, non-copyright images of the condition are difficult to come by, but since I and my 2 year old daughter happen to be diagnosed with the condition I can remedy that lack. Thoughts on images appropriate to this article would be appreciated, also whether the article is NPOV. Also, in regards to areas of article that need better citation. Please keep in mind the literature on this article is limited. —The preceding unsigned comment was added by UnseemlyWeasel (talk • contribs) 08:21, 7 September 2006.

Definitely an esoteric subject. Some suggestions:

1. The jargon can be hard to follow. Lists of terms such as "...a syndrome with multiple lentigines, hypertelorism, pectus carinatum and prognathism..." should be briefly explained where practical. Even more common terms like "locus" are not going to mean much to the lay reader, but maybe that's unavoidable. Some explanations will also help flesh out the article.
2. As you said, pictures would help. I would go with symptoms that are most characteristic and least subtle -- but that's just general advice; I don't know anything about this particular disease.
3. The section "Prevention and Management" would benefit from references. The tone could also be improved: an encyclopedia article should explain what is done, now what should be.

I think an article like this is unlikely to pass WP:FAC. Do consider WP:GA though. -- bcasterline • talk 16:56, 7 September 2006 (UTC)

Thanks for the feedback, and I do agree with the points brought up, I would also like to thank Arcadian for originating the article, and DragonflySixtyseven for rescuing it.

1. Agree on the jargon, and perhaps the main highlights of Leopard (while I have to maintain the mnemonic) I can "laymanize" better, one difficulty as you can see from the links is that sometimes the explanations require explanation :-)
2. The most characteristic external symptom of course are the lentigines, and the facial similarities of patients (caused by the wideset eyes, broad nasal root, etc.) and I will have those up this weekend, if I can get my scanner working right. The internal issues (cardiac abnormalities, skeletal and developement issues) I'll work on locating public domain images (I'm not going to cut open my chest :-D)
3. I can correct the tone in the Prevention and management section, don't worry about knowing anything about the illness, I wasn't even diagnosed with it until I was 18 and in the military, my father was retro-diagnosed from me, and I have spent most of my time since both educating healthcare professionals and staying on top of recent developments.UnseemlyWeasel 18:09, 7 September 2006 (UTC)

Very cool article. I agree with bcasterline that some of the medical jargon needs explanation, or alternatively, put the mnemonic with its expansion on the terms before the history section, which uses term like "lentigines" before they are defined. A few other thoughts:

1. The history paragraph is well researched, but since most of the people working on this aren't publicly famous doctors or scientists in their own right, it would improve readability to just state the fact and leave the names to the footnotes. (On a related note, this is a nitpick, but it's nice to have the references include the article titles and especially the full author lists.)
2. Is there a known or hypothesized reason why this is so much rarer than Noonan syndrome if both arise from different mutations of the same gene?
3. I don't know how well this has been studied either, but as a biochemist I'd like to know more about how the mutant protein actually causes the various physical symptoms. Similarly, is there any difference in symptoms or presentation among the possible mutations you've listed?
4. The images are useful (every article with the words "facial abnormalities" needs a picture) but it looks like a couple of them are up for deletion on commons - might want to check the licenses. Also it may be worth considering whether to keep the image of your daughter in the article. (Honestly I think it needs to be a crisper picture to be effective anyway; looks like a normal kid to me.) Opabinia regalis 05:00, 9 September 2006 (UTC)

Thank you for the very cool comment. I have actually thought about moving the section with the mnemonic ahead of the history section, the difficulty to me is that it would somewhat disrupt the timeline of the research but I will consider this a bit more.

1. Actually, I was trying to mirror more the way that medical papers are laid out, the only ones that I will keep are for those that are mentioned in the literature to date that do not mention papers for reference(i.e. the 1936 reference) I can make that change with no problem. (in re: your nitpick. I can certainly try on that. I know that sometimes those et al's can be frustrating, especially to the et al's :-D)
2. Not to my knowledge expressed in the written literature, though I do have an "original research" hypothesis of my own and that is the much higher number of allelic variants for Noonan's (13) vs. Leopard (5) identified.
3. Again, not to my knowledge in the written literature, though I will admit that I have not specifically looked for mechanism theory, as my interest is of a more practical nature, I will check again.
4. I have responded to the deletion request(in short it seems to be an interpretation of license issue, not true copyvio) I agree that the child image (My own daughter) I was very conflicted about including, however after discussion with my spouse and her bringing up the fact that she was possibly one of the first children tested, outside the original study, that received a confirmed diagosis from the test and to show the facial similarities in the three generations. I will think on this some more.UnseemlyWeasel 07:25, 9 September 2006 (UTC)

Update to 3 above, there is very recent work (this year!) describing that the mutations causing Leopard causes a loss of catalytic activity in SHP2, which influences growth and various pass-through reactions (i.e. such and such protein tells SHP2 to tell another protein to do their job)UnseemlyWeasel 09:25, 9 September 2006 (UTC)