Talk:Lesch–Nyhan syndrome

message: All this stuff about no evidence that oxidative stress plays no role in hyperuricemic syntromes is flatly nonsense.   I suggest a pubmed search is in order.   There are so many papers that I am going to have to figure out which ones to include.   E.g., superoxide dismutase was found to ameliorate hyperuricemic syndrome in Dalmatian dogs over three decades ago.  It is also a favorite mechanism for pathogenesis in atherosclerosis,  stroke, and metabolic syndrome.   I could go on and on.Nucleophilic (talk) 15:58, 4 March 2010 (UTC)
thread_title: Proxidant properties of Uric acid

message: Just a small point. Kelley Seegmiller does not equal Lesch Nyhan. Lesch Nyhan is caused by a complete enzymatic deficiency whilst in Kelley seegmiller there is only a partial defect.  —Preceding unsigned comment added by 93.96.165.72 (talk) 19:39, 10 October 2008 (UTC)
thread_title: Kelley Seegmiller Syndrome

message: 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)
thread_title: Old entries

message: 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 (). 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)
replies: text: I'm done here. Perhaps I'll still add something about allopurinol. JFW | T@lk 20:21, 14 Nov 2004 (UTC)
thread_title: Review articles

message: 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)
thread_title:  X linked 

message: Would it be possible to get a picture of one of the custom wheelchairs used by LNS patients -- ie, with saddles, restraints, etc to minimize self-injury?  Catherine\talk 08:17, 24 Dec 2004 (UTC)
thread_title:  Picture? 

message: From Talk:Lesch-Nyhan Syndrome:
:This article or section should be merged with Lesch-Nyhan syndrome
: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)
thread_title: Duplicate article

message: It seems to me that part of wikipedia's goal is to allow anyone access to the information they need. To that end, it seems that the first paragraph is a little incomprehensible to those without a chemistry background. Is it possible to make the first paragraph a little more user-friendly, and  maybe go into that kind of detail in a second paragraph? Verloren Hoop 21:28, 11 July 2006 (UTC)
thread_title: First paragraph

message: This article's sourcing is miserable. It does not meet FA requirements. JFW | T@lk 21:45, 31 March 2007 (UTC)
replies: text: I was just coming here to post the same query; I've been intending to submit this for review for some time, but thought I'd ask if anyone is willing/able/available to bring it to standard.  SandyGeorgia (Talk) 03:33, 1 April 2007 (UTC)
thread_title:  De-feature? 

message: Removed the following inserted text:
:Compulsive behaviors also occur, the development of this type of behavior is sometimes seen within the first year, or in early childhood, but others may not develop it until later in life. In addition to the myriad forms of physical self-injury seen in LND, there is also a behavior abmnormality. This is discussed as aggressive behavior in much of the Lesch-Nyhan literature, but will be referred to as indirect self-injury or emotional self-injury here. Individuals with LND not only demonstrate a compulsion to injure themselves, they also compulsively attempt or otherwise abuse others, including those they care for the most, such as parents, teachers, and aides. Examples are kicking and head butting while being dressed or bathed, cursing without provocation, spitting or vomiting on care providers, and spilling drinks. After performing these behaviors, the individual will characteristically apologize profusely, only to shortly thereafter repeat the behavior. At Matheny, we have come to recognize these behaviors as indirect attempts at self-injury. These aggressive behaviors cause others to become angry, which may lead to the perpetrator being punished, or minimally feeling guilty. In any case, this can be interpreted as a form of self-injury, as the intent may not be to harm the other person, but to suffer the consequences. 
I've taken this out because it adds to the already-existing problem of an uncited article, and has other issues as well.  Why was the reference to coprolalia removed?  What is the source for this text?  Please see WP:RS and WP:MEDMOS).  The text contains self-references to this Wiki article, so needs copyediting.  There are also self-references to Matheny, which should be removed and sourced.  The language is informal, not encyclopedic.  (At Matheny, we have come to recognize ... )  The article is not on Matheny's website, so the text is out of place here.  "These aggressive behaviors cause others to become angry" is editorializing.  Perhaps some of the content here can be sourced, copyedited, and re-added.  SandyGeorgia (Talk) 15:30, 12 April 2007 (UTC)
thread_title:  Removed text added by IP to Self-injuring behavior 

message: Uric acid is a reducing agent and usually acts act as an antioxidant in the body. However, uric acid can also act as a pro-oxidant,  particularly at high concentrations like those produced in LNS. Thus, free radicals, oxidative stress, and reactive oxygen species may play some role in the etiology of Lesch-Nyhan's syndrome.* *  
:Excellent, tightly focused on the subject at hand, and accessible. By the way, I'll be traveling the rest of the week, with limited internet access.  SandyGeorgia (Talk) 19:49, 29 May 2007 (UTC)
replies: text: OK by me on the condition we also note the putative role purinergic oxidative stress plays in (e.g.) metabolic syndrome, atherosclerosis, stroke etc.   To physicians and med student types (who read this stuff) this is not irrelevant to the disease.  I might also mention 6-HDA,  the animal model.Pproctor 23:02, 29 May 2007 (UTC)

text: Why not add that more general material to the pro-oxidant article? That page is a bit on the thin side and general statements would fit better in the more general article. TimVickers 02:30, 30 May 2007 (UTC)
thread_title: Compacted version

message: You-all win.  I give up.  Again.    The traditional medding with the efforts of expert editors that over and over screws up technical articles at Wikipedia.  Again,  I lodge my usual and customary useless protest.   Far as I can tell,  nobody  here are physicians, have ever worked with LNS, or have much of a clue about the science.    Similarly,  there is also some artificial "concensus" asserted totally at odds with the guidelines, etc..  Such things rely mainly on the fact that people like me have better (and more profitable) things to do than argue with some lay person who does not know enough to understand what they do not understand.   EOF.Pproctor 16:54, 17 June 2007 (UTC)
thread_title: The "expert problem" rears its ugly head

message: I am offering a small suggestion here, rather than just edit the text myself. I realize that to some this may be nit-picking. I am a physician (a pathologist) and worked in Dr. Seegmiller's lab at UCSD (Dr. Nyhan's lab was one floor above) on many of the issues discussed in this article. Dr. Seegmiller's name, as used in all of his professional citations and honors, was J. Edwin Seegmiller. Although it is true that his friends and close associates sometimes called him "J" (which I guess could become "Jay"), this was a nickname. Given his great contributions to this field, it just struck me as a little less than respectful to refer to him by his nickname. I will also add that I have no major problems with the article as written, considering the general audience of Wikipedia. For those who want to really dig into this, especially those with some background in biochemistry or molecular biology, read the chapter in The Metabolic and Molecular Bases of Inherited Disease (McGraw-Hill, 8th edition, Charles R. Scriver, ed.)
Dfuerpo 00:16, 3 July 2007 (UTC)
thread_title:  Dr. Seegmiller's Name 

message: Hi. This is a bit far afield from any area of my own expertise, but I would imagine that the Taira case study involving deep-brain stimulation  as successful treatment of the behavioral symptoms warrants mention in this article, most likely in the "Treatment" section? While it's not a commercially available treatment, it seems to show some promise at the very least. Thoughts? S. Ugarte 03:07, 15 August 2007 (UTC)
thread_title:  Deep-brain stimulation treatment? 

message: Can somebody provide a cite to the "fencing stance" referred to in the main article Pproctor 04:15, 7 October 2007 (UTC)
thread_title:  Fencing Stance ? 

message: I'm wondering what the general consensus - or for that matter, Wikipedia policy - is regarding having a section describing ongoing clinical trials for a given disorder. Such trials are usually interested in recruiting patients, and although trials are listed on sites like clinicaltrials.gov I'd think having a mention of them in a related Wikipedia article would be useful. But is it appropriate?  —Preceding unsigned comment added by 173.79.248.237 (talk) 23:54, 1 September 2010 (UTC)
thread_title:  Clinical Trials Section? 

message: There were two sentences that referred to "LND".  I'm guessing that some people call the syndrome "Lesch-Nyhan disorder" and abbreviate accordingly.  For consistency, I've changed these instances to "LNS".  I'm no expert here, though, so it's possible that the difference reflects something more significant. JamesMLane t c 07:42, 21 March 2011 (UTC)
thread_title:  Use of "LND" 

message: Any editors willing to write a short section about the prospects for gene therapy for Lesch-Nyhan? I know it was considered in the 80s. El Ingles (talk) 22:21, 2 March 2013 (UTC)
thread_title:  Gene therapy 

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thread_title:  External links modified