Evidence map›Paper›PMID 32732924›Full record

ReviewNature reviews. Disease primers2020

The Ehlers-Danlos syndromes.

Fransiska Malfait, Marco Castori, Clair A Francomano, Cecilia Giunta, Tomoki Kosho, Peter H Byers

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Disease primers, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 192 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
192citing papers in PubMed, 6 pooled it
25.7field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

192 citing papers in PubMed, 6 syntheses or guidelines pooled it, 293 citations in OpenAlex.

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  6. Ehlers-Danlos Syndrome Type Arthrochalasia: A Systematic Review.International journal of environmental research and public health · 2022
    Pooled it
  7. Trial
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132 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 6 institutions in 5 countries.

Fransiska MalfaitCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium. fransiska.malfait@ugent.be.
Marco CastoriDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
Clair A FrancomanoDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
Cecilia GiuntaConnective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.
Tomoki KoshoDepartment of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
Peter H ByersDepartment of Pathology and Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.
Casa Sollievo della Sofferenza · ITGhent University Hospital · BEIndiana University – Purdue University Indianapolis · USShinshu University · JPUniversity Children's Hospital Zurich · CHUniversity of Washington Medical Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of hereditary disorders of connective tissue, with common features including joint hypermobility, soft and hyperextensible skin, abnormal wound healing and easy bruising. Fourteen different types of EDS are recognized, of which the molecular cause is known for 13 types. These types are caused by variants in 20 different genes, the majority of which encode the fibrillar collagen types I, III and V, modifying or processing enzymes for those proteins, and enzymes that can modify glycosaminoglycan chains of proteoglycans. For the hypermobile type of EDS, the molecular underpinnings remain unknown. As connective tissue is ubiquitously distributed throughout the body, manifestations of the different types of EDS are present, to varying degrees, in virtually every organ system. This can make these disorders particularly challenging to diagnose and manage. Management consists of a care team responsible for surveillance of major and organ-specific complications (for example, arterial aneurysm and dissection), integrated physical medicine and rehabilitation. No specific medical or genetic therapies are available for any type of EDS.

Indexed as

Ehlers-Danlos SyndromeHumansProcollagenProcollagen

Identifiers

PMID32732924
OpenAlexW3045511029

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.