Science Fair Project Encyclopedia
Larsie (& Taxman), you have done a great job in creating this detailed article.
I disagree with the comment "Haldane's rule predicts a 2/3 chance that she is a carrier and a 1/3 chance that the son has a new germline mutation". I don't believe that Haldane makes any reference to the incidence of new mutations. Also, is it really necessary to include such a detailed description of X-linked genetics? Why not just include a link. Axl 23:27, 8 Nov 2004 (UTC)
Correction to the above: apparently there are three Haldane's rules, one of which does make the prediction quoted. While the rule does make the prediction, in this case the prediction is wrong because the mutation rate in males exceeds the rate in females. Axl 14:11, 11 Nov 2004 (UTC)
I must compliment the previous authors on the large amount of work. The restructuring and copyediting I'm doing today has a lot to do with the overlap that has crept into the article. I've also changed a lot of terms that are POVish (malady, affliction). In all, I have not changed any facts, apart from the following:
- Most women with gout do not carry a LNS mutation, and testing is never done unless this is in the context of a strongly suggestive history and fears that she may transmit this trait to her offspring.
- Haldane's rule may not apply (as above). JFW | T@lk 21:01, 10 Nov 2004 (UTC)
i don't think all that copy editing did much except for make a mess of the article, the headings now don't exactly pertain to the paragraphs below them and the signs and symptoms is to long, it needs to be broken up. it also seems as though a lot of information was lost --Larsie 22:20, 10 Nov 2004 (UTC)
- Please do not misunderstand me. The medical articles on Wikipedia all follow a style pattern which has been detailed on WikiProject "Clinical medicine"; please peruse this. The clinical pattern, whether in men or in women, belongs under "description" or "signs and symptoms", not in a seperate section.
- You have done a lot of great work on this article, and it is still evolving further. Let's please cooperate on this. I think it is worthy of becoming a featured article when some more copyediting has been done (and certain redundancies removed). JFW | T@lk 11:49, 11 Nov 2004 (UTC)
- Actually, I'm a bit annoyed that someone has removed perfectly good changes. Women with gout are not tested for LNS mutations. Period. They are tested to determine whether a second child may also develop LNS. JFW | T@lk 11:55, 11 Nov 2004 (UTC)
- i think that the article should take whatever form that would be best accepted as a well written, informative, feature article. period. i think the best way to determine this is to read the reviews and make whatever changes necessary. --Larsie 19:57, 14 Nov 2004 (UTC)
I have now included references to the original description of LNS, as well as its linkage to HPRT mutations. I also made a stub for HPRT. Sadly, no recent general review articles have been published. The closest I could get is one by Dr Nyhan himself in 1997 (PMID 9211189). If I can get access to the article fulltext I'll present relevant material here for discussion.
I will also look into the basic biochemistry. HPRT does not produce uric acid. Rather, it shunts DNA breakdown products back into new DNA synthesis. Defects of the gene lead to increased siphoning of the purine breakdown material into their "natural" metabolic sink, which happens to be uric acid. The important question is whether the shortage of "recycled" purines is important in the context of LNS. Old memories from medical school tell me that it is. JFW | T@lk 17:54, 11 Nov 2004 (UTC)
- I'm done here. Perhaps I'll still add something about allopurinol. JFW | T@lk 20:21, 14 Nov 2004 (UTC)
I believe it is correct to say that LNS only affects males. Females carriers, even those with gouty symptoms, do not have the disease. Osmodiar 08:12, 24 Nov 2004 (UTC)
It's correct to say that the disease is extremely rare in females; it's NOT correct to say it only effects males. See Yukawa, T.; Akazawa, H.; Miyake, Y.; Takahashi, Y.; Nagao, H.; Takeda, E. : A female patient with Lesch-Nyhan syndrome. Dev. Med. Child Neurol. 34: 543-546, 1992. PubMed ID : 1612215 - Nunh-huh 08:21, 24 Nov 2004 (UTC)
OK, but I think it should be stressed that it is overwhelmingly a disease of males, to the point that a female case warrants a write up in a journal. I changed the wording in the introduction back to allow for the possibility of female patients. Perhaps a more detailed discusion of non random X inactivation, new mutations, and other possibilities (Turner syndrome?) could go under the "female" section. Osmodiar 09:09, 24 Nov 2004 (UTC)
- Although I didn't find anything on the internet, I wonder if this version might not be a copyright violation. BlankVerse ∅ 19:21, 18 Feb 2005 (UTC)
- Major contributions were made to this article by User:Larsie, , . However, these users have made some prank edits to other articles. Can their contributions be checked carefully? I see that many other users have contributed and the article has been featured, but there is still a lingering concern. Thanks. -- Curps 22:02, 8 Mar 2005 (UTC)
- I have no expertise whatsoever in the subject matter of Lesch-Nyhan syndrome, I'm just in the process of looking into User:Larsie's contribution history. He created Lesch-Nyhan syndrome only a couple of days after his edits to Lars Olsen and the above cryptic messages, hence I had some concern. -- Curps 23:06, 8 Mar 2005 (UTC)
- Larsie is the principal author of the article. I'm no expert, but I (and others) read this article quite carefully during its FA candidacy. At the time, I found Larsie to be a serious and conscientious editor. I would be very surprised if User:Larsie has made any inappropriate edits to this article.
You say he's made "prank" edits to other articles? Can you please elaborate?
- made one edit, changing: "sibs" to "siblings".
You are concerned about that?
- made three edits. Two changed section headings from "What is the Prognosis?" to "Prognosis", and from "What research is being done?" to "Research" (neither section title now survives). The third added: These individuals unfortuneatly must be restrained to prevent the ability for self mutilation and rarely survive into adulthood. The vestigial remains of which read: Nearly all affected individuals need restraints to prevent self-injury, and are restrained more than 75% of the time.
What concerns you about these changes?
- I beleive that User:Jfdwolff is a knowledgable editor in this field, you might want to solicit his opinion.
- Paul August ☎ 22:55, Mar 8, 2005 (UTC)
Thank you Paul. It's been a while I last copyedited the article, but I was generally under the impression that it was well sourced and structured. All I did was add some molecular biology and classical references. When I've got some time (I'm on night shift) I'll have a quick scan. JFW | T@lk 23:00, 8 Mar 2005 (UTC)
- The article is factually accurate. Axl 19:31, 9 Mar 2005 (UTC)
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