Talk:Familial hypercholesterolemia
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Familial hypercholesterolemia has been listed as one of the Natural sciences good articles under the good article criteria. If you can improve it further, please do. If it no longer meets these criteria, you can delist it, or ask for a reassessment. | |||
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[edit] Menion of genetic groups most affected?
In reading other articles about this genetic disease on the web, i have noticed population studies that mention that FH is most common in certain racial/genetic groups, namely Finns & Icelanders, Ashkenazi Jews, Lebanese Christians, and some Afrikaans populations in South Africa. Might it be a good idea to mention such things here? I think so, but am not qualified to do so. Just sign me, "Another Ashkenazi Jew with an LDL of 200, chronic Achilles tendonitis, and a family history of Angina, CAD, and Myocardial Infarction." 64.142.90.32 (talk) 16:45, 15 December 2007 (UTC)
- A good source would be needed, but I agree that this needs to be brought up. JFW | T@lk 10:43, 3 February 2008 (UTC)
- PMID 9853432 - molecular epidemiology. Can't see the paper from home (1998, need to order it from the library). JFW | T@lk 21:44, 3 February 2008 (UTC)
[edit] Statins in children
PMID 17569881 discusses the use of statins in children with FH. JFW | T@lk 10:43, 3 February 2008 (UTC)
[edit] More genes
PMID 18262040 - some more genes doing LDL, not quite the same as the LDL receptor though. JFW | T@lk 23:35, 12 February 2008 (UTC)
[edit] Brown & Goldstein
Surely a 1986 publication is not going to be an example of work that led to them winning the Nobel Prize. Which is the most representative paper from their 1970s work? JFW | T@lk 20:12, 28 February 2008 (UTC)
[edit] Children with FH (heterozygous)
Useful JRSM article by Durrington: Full text at PMC: 1079462 JFW | T@lk 13:36, 19 March 2008 (UTC)
[edit] Diagnostic criteria
WHO 1998 http://whqlibdoc.who.int/hq/1998/WHO_hgn_fh_CONS_98.7.pdf JFW | T@lk 23:52, 2 April 2008 (UTC)
[edit] Added class V mutation in LDL-R
This mutation is already in the page for LDL-R.82.10.78.130 (talk) 09:55, 6 May 2008 (UTC)
- Possible source: http://atvb.ahajournals.org/cgi/content/full/19/2/408 JFW | T@lk 09:47, 13 May 2008 (UTC)
[edit] Before going to GAC
Two more things to do before going to GAC:
- Reviewing PMID 18402545 - if it contains actual trial data on interventions (with good endpoint data) will include this in the article.
- Reviewing the WHO document for anything important we are not presently discussing.
Other comments invited. JFW | T@lk 14:21, 13 May 2008 (UTC)
[edit] PR
Hi, saw the request for a peer review on WT:MED. Very well done! Good job explaining terms for laypeople. A few comments:
- "leads to atherosclerosis, the underlying cause of cardiovascular disease." Should this be "of some cardiovascular diseases", "the underlying cause of cardiovascular disease resulting from this condition" or something? There's many causes of cardiovascular disease.
- I would create a single, separate paragraph under "Signs and symptoms" for the discussion of cardiac-related symptoms. Also, that way you don't have the one sentence paragraph about risks. "Coronary artery disease is more common than other forms of cardiovascular disease in FH" sounds kind of tacked on at the end of that paragraph. If you don't give the heart stuff its own paragraph, maybe integrate this sentence into the discussion of cardiovascular disease, e.g. by saying, "...cardiovascular disease, of which coronary artery disease is the most common form." That way you keep the coronary artery topic together within that paragraph.
- This sentence is hard to understand: "Lipid infiltration and consequent thickening can cause aortic stenosis if the aortic root (supravalvular) or aortic valve is involved." You may want to define "Lipid infiltration" and put the anatomy terms in layman's terms.
- I think MOS recommends en dashes (–) rather than hyphens (-) for number ranges. In percent ranges, only the last number has a % sign (e.g. 50–80%, not 50%-80%).
- Define xanthomata under "differential diagnosis".
- Link the first use of unusual measurements, such as kb and Mb.
- "It comprises 18 exons and spans 45kb, and the gene product contains 839 amino acids in mature form." What is a mature form of a nucleic acid?
- Non breaking spaces between numbers and units.
- "In LDL receptor mutations, this is the mechanism behind the receptor malfunctioning; in ApoB mutations, this is due to reduced binding of LDL particles to the receptor." It's not clear what the second this is referring to.
- "The degree of atherosclerosis roughly depends of the amount of LDL receptors" Is amount the right word? What about 'the number of receptors'?
- "In more serious forms, the homozygous form, the receptor is not expressed at all." Should this be "In more serious forms, such as the homozygous form..."? Or "In the more serious form, the homozygous form"?
- "this provides a liver with "normal" LDL receptors" —Just curious, why is "normal" in quotation marks?
- "Gene therapy could be a possible future alternative"— Too many qualifiers IMO. 'Is possible' is just as safe.
- "...it is sometimes necessary to treat adolescents or sometimes even teenagers"—Too many sometimes's. Sometimes is so vague it's not that useful anyway.
- Citation needed for "In most populations studied, heterozygous FH occurs in about 1:500 people, but not all develop symptoms" and all sentences with statistics. If it's the same ref as the next sentence, consider a semicolon to combine the shortish sentences.
- "...because of a genetic phenomenon known as the founder effect"—It's good that 'founder effect' is wikilinked, but might be even better to give a little parenthetical explanation of what it is so the reader doesn't have to leave your article.
- Very short sections are discouraged. Maybe rather than having the two sentence section "Screening", you could integrate those sections into diagnosis. Maybe you could call it "screening and diagnosis".
- Similarly, maybe you could add a couple sentences to the "History" section.
- Looks like some of the references are primary sources, I'd stay away from them per WP:PSTS.
- JFW: Some primary sources are very recent, and have not yet been incorporated into secondary reviews. The fact that they have appeared in core journals like BMJ, The Lancet and NEJM makes them relatively suitable as a source. The other references are historical sources that need to be maintained for interest's sake. JFW | T@lk 10:13, 14 May 2008 (UTC)
These are all just suggestions, if you know of a reason not to implement them that's fine. Overall very well done, nice treatment of a complex topic. Excellent work on references, well-written. Easy for the lay reader to understand on the whole, though anything you can do to make it more so would be great. Personally, I think it's GA-worthy now. delldot talk 05:02, 14 May 2008 (UTC)
- Thanks for your review, Delldot. I will leave comments above (marked JFW) and try to implement most of your recommendations over the course of today. I am still reading the sources above, and may still do further expansion. Also many thanks to Stevenfruitsmaak (talk · contribs) for identifying some important recent papers and incorporating them. JFW | T@lk 10:13, 14 May 2008 (UTC)
[edit] GA review
Figured I'd review this since I'd already read it and all. It's very good and I was looking forward to passing it no problem, but ran into one minor, easily fixable hitch. Here's the breakdown of my assessment.
- Well written?: No major problems, very readable, especially for an article on a topic so complex and technical.
- Factually accurate?: Well referenced. Use of the few primary sources has been explained above, no major facts missing citations.
- Broad in coverage?: Appears to cover every major aspect of the condition, doesn't go into unnecessary detail.
- Neutral point of view?: No NPOV problems.
- Article stability? No stability problems.
- Images?: Image:HMG-CoA reductase pathway.png looks like it needs a tweak of the copyright tag. Looks like just a matter of switching a template. I'm not sure how big a deal this is, but I'm gonna hold this till it's fixed to be safe. Sorry, I should have checked this when doing the review. But it shouldn't be hard to fix.
Excellent work! Sorry to hold this on such a minor thing. Gimme a heads up when you're ready for me to re-review. delldot talk 05:46, 15 May 2008 (UTC)
Done Image rights updated. Sorry, was simply unaware that there was a problem. JFW | T@lk 09:09, 15 May 2008 (UTC)
[edit] A couple more suggestions
Guess I missed a few on my first read through.
- Introduce the ApoB term on first use, or let on that it will be discussed later.
- Why is it sometimes LDL-receptors and sometimes LDL receptors?
- "Other surgical techniques include partial ileal bypass surgery and portocaval shunt surgery." Might want to explain what these types of surgery are, since the links are red. delldot talk 05:46, 15 May 2008 (UTC)
