Talk:Ehlers–Danlos syndrome/GA1

GA Review

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Reviewer: Ceranthor (talk · contribs) 16:53, 10 September 2018 (UTC)

I can review this. ceranthor 16:53, 10 September 2018 (UTC)

Sorry for the delay. Here are my comments:

Lead

• "EDSs are due to a mutation in one of more than a dozen different genes.[1] " - phrased a bit oddly... can't an individual have more than one mutation?

[Worse, it's false. (wikimarmot speaking) Most cases have no known genetic cause. Namely all hEDS cases. Even [1] alludes to this but also see: ]

• "This results in defects in the structure or processing of collagen.[1]" - I'd just add "the protein" before "collagen"
• "People may be misdiagnosed with hypochondriasis, depression, or chronic fatigue syndrome.[3]" - This comes abruptly and seems to be a bit of a non-sequitur in context
• "EDSs affect about one in 5,000 people globally.[1] The prognosis depends on the specific disorder.[3] Excess mobility was first described by Hippocrates in 400 BC.[6] The syndromes are named after two physicians, Edvard Ehlers from Denmark and Henri-Alexandre Danlos from France, who described them at the turn of the 20th century.[7]" - These ideas don't all go together, and forcing their combination is not working. Perhaps move the history of the name to the very beginning of the article?

Signs and symptoms

• "Signs vary widely based on the specific EDS the person has" - citation?
• " atrophic "cigarette paper" scars," - the image there is fairly obvious, but I would reword as atrophic scars that have the appearance of "cigarette paper" or something more like that
• "easy bruising.[1][7][18] " - again, needs to be slightly rephrased I think. Maybe combine with "tears easily" to become "tears and bruises easily"
• "Redundant skin folds, especially on the eyelids also happen." - so choppy... and what are redundant skin folds? That's not common or self-evident to a lay reader
• "Molluscoid pseudotumors,[20] especially on pressure points. Petechiae,[21] subcutaneous spheroids,[20] livedo reticularis, and piezogenic papules are less common.[22]" - I suspect that the period after "pressure points" is a mistake?
• "In vascular EDS, thin, translucent, and extremely fragile skin that tears easily is also a symptom." - no citation, and this is redundant... you already implied fragile skin that tears easily
• Why do certain symptoms have citations but not others?
• Why are there brief prose sections for musculoskeletal and skin symptoms, but not others?
• Likewise, for the other manifestations, why are those considered "other" rather than classed anatomically? And why do certain bullets have sentence-long explanations but not others?
• "The pain associated with the disorders may be severe.[39]" - surely you can elaborate on this point further?

[wikimarmot: one source of many: ]

Genetics

• No citation for the first sentence?
• Likewise, any citation for the specific genes?
• "forms ofEDSs" - minor typo (needs a space)
• "It can also be an individual (de novo or "sporadic") mutation.[40]" - the rest of the section clarifies thoroughly the mechanism of mutations, but this sentence does not - should clarify the differences as opposed to autosomal mutations?

Diagnosis

• "The Beighton criteria are widely used to assess the degree of joint hypermobility." - any citation for this?
• "Knowledge about EDSs among practitioners is poor.[42][43]" - among which types of practitioners? all of them?

[wikimarmot - EDSs is a false neologism. I've never seen it before, and I've read thousands of articles that at least mention EDS. There is one overarching EDS syndrome (syndromes categorize by symptoms) Most categories within that syndrome are NOT syndromes themselves but instead specific diseases with specific known genetic causes. A few are, again, syndromes but those have their own names, such as hEDS and there's no necessity that the names of those syndromes include "Ehler", "Danlos" or "Syndrome," which EDSs would seem to imply.]

• "The mutation that causes this type of EDS is unknown. Less skin involvement is seen than other types. No genetic test for this type is available." - citation?
• "The mutation that causes this type of EDS is in the genes COL5A1, COL5A2, and COL1A1. It involves the skin more than hEDS." - citation?
• "Is can be caused by the mutations in the COL3A1 gene." - Think this is supposed to start with "It"; also needs a citation
• "Dermatosparaxis EDS (type 7C dEDS) is associated with extremely fragile skin leading to severe bruising and scarring; saggy, redundant skin, especially on the face; and hernias. It is extremely rare, with around 10 cases reported." - citation?
• "*"Arthrochalasia EDS (types 7A & B aEDS) is characterized by severe joint hypermobility and congenital hip dislocation. Other common features include fragile, elastic skin with easy bruising, hypotonia, kyphoscoliosis (kyphosis and scoliosis), and mild osteopenia.[4] Type-I collagen is usually affected. It is very rare, with about 30 cases reported. It is more severe than the hypermobility type. Mutations in the genes COL1A1 and COL1A2 cause it." - citation?
• " It can be caused by mutations in the gene PLOD1." - citation?

Management

• Citation needed tags should be fixed ASAP.
• "haematoma formation" - might be useful to add a brief description of what this refers to

Prognosis

• "The outlook for individuals with an EDS depends on the specific EDS they have. " - is "outlook" a commonly used medical term?
• "The outlook for individuals with an EDS depends on the specific EDS they have. Symptoms vary in severity, even in the same disorder, and the frequency of complications varies. Some people have negligible symptoms, while others are severely restricted in daily life. Extreme joint instability, chronic musculoskeletal pain, degenerative joint disease, frequent injuries, and spinal deformities may limit mobility. Severe spinal deformities may affect breathing. In the case of extreme joint instability, dislocations may result from simple tasks such as rolling over in bed or turning a doorknob. Secondary conditions such as autonomic dysfunction or cardiovascular problems, occurring in any type, can affect prognosis and quality of life. Severe mobility-related disability is seen more often in hypermobile EDS than in classical EDS or vascular EDS.[citation needed]" - entire paragraph is not cited!
• "The median life expectancy in the population with vascular EDSs is 48 years.[60]" - this article is from 2000; has this changed in the past two decades?

Epidemiology

• "as the disorders received further study" - received further study is an odd phrasing

Society and culture

• As is, this section is crufty. It should be converted into prose and made more formal, or removed altogether. Wikipedia is not a body of trivia.

Other species

• Citation needed tags should be fixed ASAP.
• This section is very brief, and I don't think it's fully comprehensive. It may consult a decent number of sources, but I wonder if these references have been fully explored.

References

• Earwig's tool shows very high suspicion of copied text for these two sources:
  • [1]
  • [2]
• Ref 58, "OrphanAnesthesia Guidelines", does not link properly within the text
• Many of these refs are missing publisher info
• I'm not convinced the ehlers-danlos network site is a reliable source. (or the archived [3])
• What makes [4] a reliable source?
• Same with [5]?
• what makes [6] reliable?
• This is not a reliable source: [7]
• What makes this reliable? [8]
• This link appears broken: [9]
• Same with [10]?
• Same with [11]?
• Do we consider MedScape a reliable source for [12] or [13]?
• Same with [14]?
• same with [15]?

Images

• Very helpful in general.
• Tend to be striking and dramatic; are there less obvious manifestations of EDS out there that could be depicted in the article?

While the article is on its way towards becoming a GA, I'm leaning towards failing this for GAN for now, and letting the nominator work towards addressing my comments before re-nominating. Does that seem fair to you, Steve Mulch Civic (Pro)? ceranthor 20:03, 18 September 2018 (UTC)

Going to fail this for now. Feel free to reach out if you have any other questions. ceranthor 13:20, 26 September 2018 (UTC)