Evidence map›Paper›PMID 36421793›Full record

ReviewGenes2022

Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities.

María José Fajardo-Jiménez, Johanna A Tejada-Moreno, Alejandro Mejía-García, Andrés Villegas-Lanau, Wildeman Zapata-Builes, Jorge E Restrepo, Gina P Cuartas, Juan C Hernandez

Open access · goldAbstract readReviewCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Review in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 37% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Article
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

8 authors at 4 institutions in 2 countries.

María José Fajardo-JiménezCentro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44350, Mexico.
Johanna A Tejada-MorenoGrupo Genética Molecular GENMOL, Universidad de Antioquia UdeA, Medellín 050010, Colombia.ORCID 0000-0002-8395-0233
Alejandro Mejía-GarcíaGrupo Genética Molecular GENMOL, Universidad de Antioquia UdeA, Medellín 050010, Colombia.ORCID 0000-0002-5515-9057
Andrés Villegas-LanauGrupo Neurociencias de Antioquia GNA, Universidad de Antioquia UdeA, Medellín 050010, Colombia.
Wildeman Zapata-BuilesInfettare, Facultad de Medicina, Universidad Cooperativa de Colombia, Medellín 050012, Colombia.ORCID 0000-0002-7351-8738
Jorge E RestrepoGrupo OBSERVATOS, Facultad de Educación y Ciencias Sociales, Tecnológico de Antioquia-Institución Universitaria, Medellín 050034, Colombia.
Gina P CuartasGrupo Neurociencia y Cognición, Facultad de Psicología, Universidad Cooperativa de Colombia, Medellín 050012, Colombia.ORCID 0000-0001-5385-1560
Juan C HernandezInfettare, Facultad de Medicina, Universidad Cooperativa de Colombia, Medellín 050012, Colombia.ORCID 0000-0002-9200-5698
Universidad Cooperativa de Colombia · COUniversidad de Antioquia · COAntioquia Institute of Technology · COUniversidad de Guadalajara · MX

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ehlers-Danlos syndromes (EDS) are a heterogeneous group of genetically transmitted connective tissue disorders that directly affect collagen synthesis, with a broad range of symptoms. Case presentation: This study presents a clinical case of a Colombian woman with myopathic EDS and multiple comorbidities taking 40 years of medical history to make the right diagnosis. This article also presents a review of the current literature on EDS, not only to remind the syndrome but also to help the clinician correctly identify symptoms of this diverse syndrome. Conclusion: A multidisciplinary approach to the diagnosis of the patient, including clinical and molecular analysis, and neuropsychological and psychological assessment, is important to improve the treatment choice and the outcome prediction of the patients.

Indexed as

Ehlers-Danlos SyndromeColombiaComorbidityFemaleHumanscase reportcollagenEhlers-Danlos syndromesgenetic diseasesneuropsychological assessment

Identifiers

PMID36421793
PMCPMC9689997
OpenAlexW4309033807

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.