Talk:Dyskeratosis congenita

Readability

PLEASE FOR THE LOVE OF GOD CLEAN UP THIS PAGE!! This looks like a really interesting syndrome/condition. However, I have to use the dictionary a lot to understand it. Readability is important! Too much technical jargon-- please clean up. MiniOreo (talk) 14:00, 12 May 2008 (UTC)

Not premature aging

"premature aging effect" is scientifically incorrect terminology, giving the mistaken impression that this condition is accelerated aging. I reverted to language used in my edit: "rare progressive congenital disorder which results in what in some ways resembles premature aging (similar to progeria)" --Xris0 (talk) 20:42, 30 January 2010 (UTC)

Okee-dokey :-) Rcej (Robert) - talk 05:19, 31 January 2010 (UTC)

Lacking citations

The CHARACTERISTICS section offers a lot of specific information on the symptoms of the disease, however none of it is cited. Cheesefromwater (talk) 14:34, 6 January 2015 (UTC)

Proposed updates to existing section ‘4. Diagnosis’

Please update content to: Since the disease has a wide variety of symptoms, due to the involvement of multiple body systems, diagnostic testing depends on the clinical findings in each individual patient. Commonly used tests include: complete blood count (CBC), bone marrow examination, leukocyte telomere length test (e.g. Flow FISH [1]), pulmonary function test, genetic testing and checking for von Willebrand factor (VMF [2]) level in the blood.

Explanation of issue: Bad grammar; formatting issues; two clinically utilized methods of Dyskeratosis Congenita diagnosis currently not mentioned

References supporting change:

Alter BP, Baerlocher GM, Savage SA, et al. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood. 2007;110(5):1439-1447. doi:10.1182/blood-2007-02-075598. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1975834/

Savage, S. & Cook, E. Dyskeratosis Congenita and Telomere Biology Disorders: Diagnosis and Management Guidelines. (First ed.) 2015. Accessed at: https://teamtelomere.org/wp-content/uploads/2018/07/DC-TBD-Diagnosis-And-Management-Guidelines.pdf

JLRD309 (talk) 21:00, 18 August 2020 (UTC)

Hi @JLRD309:, I do not have medical expertise nor experience editing medical articles, so I decided to post a notice to WP:WikiProject Medicine. Hopefully someone there will respond soon. I have also moved your connected contributor banner to the top of the page. Z1720 (talk) 16:35, 27 November 2020 (UTC)

Thanks for posting the note at WT:MED, Z1720.

JLRD309, we have some (occasionally over-picky) rules about sources for Wikipedia:Biomedical information, and these don't seem to be "the ideal". I was wondering how you felt about https://www.ncbi.nlm.nih.gov/books/NBK22301/#dkc.Diagnosis

Also, I haven't found any other sources that mention VMF, and I wonder whether that is still done or perhaps not a key step in the diagnosis. WhatamIdoing (talk) 20:53, 27 November 2020 (UTC)

Hi @JLRD309:, I want to make sure you got the note from WhatamIdoing. If you wish to respond please post it below. If there's no response for a couple days I will close the ticket. Thanks. Z1720 (talk) 03:12, 4 December 2020 (UTC)

Since there has not been a response to WhatamIdoing by the original requester, I am going to close this ticket. If you would like to request these changes again please follow the instructions at Template:Request edit/Instructions. Happy editing! Z1720 (talk) 18:06, 6 December 2020 (UTC)

Changes to section 4. Diagnosis

• Content to be updated to: Since the disease has a wide variety of symptoms, due to the involvement of multiple body systems, diagnostic testing depends on the clinical findings in each individual patient. Commonly used tests include: complete blood count (CBC), bone marrow examination, leukocyte telomere length test (e.g. Flow FISH [3]), pulmonary function test and genetic testing.
• Explanation of issue: Bad grammar; formatting issues; two clinically utilized methods of Dyskeratosis Congenita diagnosis currently not mentioned; no references to support link between von Willibrand factor and diagnosis of dyskeratosis congenita
• References supporting change:

1. Savage SA. Dyskeratosis Congenita. 2009 Nov 12 [Updated 2019 Nov 21]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. https://www.ncbi.nlm.nih.gov/books/NBK22301/#dkc.Diagnosis
2. Fernández García, M Soledad, and Julie Teruya-Feldstein. “The diagnosis and treatment of dyskeratosis congenita: a review.” Journal of blood medicine vol. 5 157-67. 21 Aug. 2014. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145822/#__sec12title

@WhatamIdoing: Thanks for your guidance on referencing and for flagging lack of reference for von Willibrand factor, I have no knowledge of a link between this and dyskeratosis congenita diagnosis, I have therefore suggested it is removed.

JLRD309 (talk) 23:45, 8 December 2020 (UTC)

Thank you for this, JLRD309. I apologize for taking so long to get back to you. By the way, some of us who are interested in medical content hang out at Wikipedia talk:WikiProject Medicine. You are welcome to put the page on your watchlist and join the discussions. We always need people who know things. ;-D WhatamIdoing (talk) 22:07, 27 December 2020 (UTC)