Talk:Gaucher's disease

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old comments

The prononciation you suggest is definitely the correct one

I'm glad we can agree on this one. JFW | T@lk 01:45, 9 Jun 2005 (UTC)

The Cochran hypothesis

I removed the very long quote from an Economist article. The Economist is not a terribly reliable source of evolutionary genetics, and it is another example of Gregory Cochran and his following trying to publish a hypothesis that the "typical" Ashkenazi inherited diseases have an evolutionary basis and that it both causes and explains their supposed "higher intelligence".

In fact, Gregory sent me a PDF of a long paper on the subject a few months ago. It sound very intelligent, but in the final analysis it is highly speculative and has not found much acceptance in the research community (to the point that he still has been unable to get this paper published). Can we please wait until this has made its way into a peer-reviewed publication? JFW | T@lk 01:45, 9 Jun 2005 (UTC)

Some editions to this page by JFWolff

Mr Wolff (I assume):

I'm a Mexican mother who is very close and related to the man who publishes the "Pide un deseo.org" web page. This is the second ocassion that I try to add an external link to the page. I'm quite confident that the external link I'm adding is of great value to many parents who have kids with this disease, mainly because is a success history. Please, don't edit again, and other benefit (although in Spanish) with this example!

I'm Celia Palacios, and I'm willing to understand your reasons about this subject.

It's in Spanish. I don't really see the point to advertise this to English readers. JFW | T@lk 06:56, 8 September 2005 (UTC)[reply]

Treatment

I came across this damn article and they claim there is a drug that seems to help. I am nowhere near being medically competent and wonder if someone can comment on it. The drug is Zavesca [1]

Zavesca (generic name: miglustat) is sometimes used in mild cases of Gaucher's disease type I, when imiglucerasis cannot be given. It inhibits the enzyme glucosylceramidsynthasis which plays a key role in the synthesis of most glycolipids like glucosylceramid. Enzyme replacement therapy, i.e. imiglucerasis, is currently the preferred treatment. --WS 13:53, 19 November 2005 (UTC)[reply]
Thanks, I can see why the drug didn't feature prominently on the treatment section. gathima 01:29, 21 November 2005 (UTC)[reply]
Zavesca is a drug that provokes many health problems. locus
I have excised the following addition added today "Patients can create anti-Cerezyme cells that provokes indirectly Pulmonary hypertension" because I cannot find a reference and none was provided. I have found information about anti-Cerezyme antibodies, but nothing about precipitation of pulmonary hypertension. Since pulmonary hypertension is a feature of Gaucher's disease, I imagine it would be hard to separate out disease progression from Cerezyme failure from Cerezyme induced effects. Let me know if there's a reference I'm missing (pubmed had nothing with several different search strings.) InvictaHOG 03:28, 14 June 2006 (UTC)[reply]
I can say i know the relation between pulmonary hypertension and Gaucher's disease because I had the two problems. In last news, Dr Ari Zinram thinks there's a possible relation with cerezyme and PH. He suggested to stop trmporary Cerezyme, I believe. Dr Mistry say to augment Cerezyme for people that had the two problems. Personnally, I listened Dr Mistry and since my PH diseappeared. It's very complicated because two theories say either Gaucher's disease creates Portal Hypertension or either anti-Cerezyme antibodies can provoke Portal Hypertension. The result is the portal hypertension provokes secundary pulmonary hypertension. Another problems is a possible augment of anti-cerezyme antibodies with augment of Cerezyme. Actually, many doctors thinks like Dr Zinram locus

Please read no original research. However troublesome your situation, it should not be included on Wikipedia unless you can provide a reliable source (in this case: a paper from a medical journal) supporting your assertions. Do we have any way of knowing whether Drs Zinram and Mistry are experts on Gaucher's? JFW | T@lk 21:45, 14 June 2006 (UTC)[reply]

yes, but in the links I put, it's was the articles from one of two named doctors. he is member of "National Gaucher Disease Program". I hope i don't make an error.locus
The links were fine (IMO, though they were near duplicates!) but they actually made the point that the original association between Cerezyme and pulmonary hypertension was thought to be erroneous given recent studies. They actually correlated poor Cerezyme compliance with increasing risk of pulmonary hypertension! Also, I did not see any information about portal hypertension or anti-Cerezyme antibodies in the articles. InvictaHOG 00:18, 15 June 2006 (UTC)[reply]
yes, i'm agree. it's a link on gaucher's disease and portal hypertension http://www.emedicine.com/ped/topic837.htm (see clinical section 3) or http://www.cerezyme.com/healthcare/disease/cz_hc_disease-progression.asp . I know the difficulties for a relation between cerezyme et HP. Like I say, it's a theory.
The relationship between GD and PH is well-known. Again, the links don't mention the correlation with therapy that the article addition referred to. InvictaHOG 10:43, 15 June 2006 (UTC)[reply]

Compound heterozygosity

This isn't covered in the article at present, but GD can also result from a combination of two different mutations, like N370S/84GG. Severity in compound heterozygote Gaucher's may not easily fit into the usual type I/II/III categories. Whig 20:38, 14 January 2007 (UTC)[reply]

A project on Gauchers disease

I am curently doing a project on gauchers disease at my high school. What I would like to know is if my source is reliable. The site is called www.gaucher.org.uk/living.htm. Do you think this source is reliable? Me and my partner have other sources but this is a main one. Do you think it is reliable?8th sinn 5/16/07 8:57 MST

"African American TRIBES"????

The article currently includes this: "In populations with high rates of carriage (Ashkenazi Jews and Norrbottnian Swedes and a few African American tribes)..."

What could posibly be meant by "African American tribes"? I'm an American. We have no tribes here, African or otherwise.


Yeah I also think it should say "African Tribes" instead. African Americans obviously no longer live in tribes.

Pulse416 07:30, 13 November 2007 (UTC)[reply]

Malignancy

This is probably worrying. JFW | T@lk 22:39, 11 June 2007 (UTC)[reply]

Br J Haem has an evidence-based set of recommendations this week. I'll try to integrate it into this article. Also makes the point re myeloma incidence. JFW | T@lk 18:52, 1 August 2007 (UTC)[reply]
doi:10.1111/j.1365-2141.2007.06701.x (Hughes et al mentioned before). JFW | T@lk 17:54, 17 April 2009 (UTC)[reply]

would be great to get audio of this article

the name of the disease may be hard for many people to pronounce - it would be a good candidate for audio recording of the article. Tkjazzer (talk) 21:21, 22 March 2008 (UTC)[reply]

how do you request an article for audio? tag it somehow? Tkjazzer (talk) 21:22, 22 March 2008 (UTC)[reply]
I've completed an audio. Would love to get your comments, especially if I have mispronounced medical terms. Leotohill (talk) 01:58, 16 November 2008 (UTC)[reply]

fatigue due to low blood platelets?

The article says: "Patients in this group usually bruise easily and experience fatigue due to low blood platelets." However I don't think that low blood platelets lead to fatigue. As far as I know only low red blood cells count leads to fatigue. —Preceding unsigned comment added by 85.250.68.168 (talk) 15:02, 7 September 2008 (UTC)[reply]

Need an image of Gaucher cells

Examples of the "crumpled paper" appearance would be useful Niels Olson (talk) 19:21, 3 December 2008 (UTC)[reply]

Review

doi:10.1111/bjh.12804 - Br J Haem JFW | T@lk 18:30, 3 March 2014 (UTC)[reply]

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Review

doi:10.1111/bjh.15402 JFW | T@lk 06:33, 15 August 2018 (UTC)[reply]

Maybe mention its a rare disease?

It is included in the category rare diseases, but it's not (explicitly) mentioned in the article.

There is a line saying it "is the most common of the lysosomal storage diseases", without mentioning these are rare disorders (although the hypertext does point that out). Without any mention that this is a rare disease, this line in the lead might give a wrong impression to a furtive reader.

I dont feel bold enough to make any changes, but noticed at least two of the sources already available name Gauchers disease rare in the title, if that helps any... 2A02:A210:A1C0:0:7427:4F4E:B722:B760 (talk) 21:48, 13 November 2023 (UTC)[reply]

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