Evidence map›Paper›PMID 32743524›Full record

ArticleJournal of translational autoimmunity2020

Trisomy X in a patient with childhood-onset systemic lupus erythematosus.

Fernanda B Barbosa, Nailu Angelica Sinicato, Paulo Rogério Julio, Ana Carolina Londe, Roberto Marini, Vera L Gil-da-Silva-Lopes, Simone Appenzeller

Open access · goldAbstract readCase Reports
In one paragraph

Article in Journal of translational autoimmunity, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
1.1field-weighted citation impact, top 24% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Genetics of Sex Differences in Immunity.Current topics in microbiology and immunology · 2023
    Article
  4. Review
  5. 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

7 authors at 2 institutions in 1 country.

Fernanda B BarbosaLaboratory of Recognition Biology, Center of Biosciences and Biotechnology, State University of North Fluminense (UENF), Campos Dos Goytacazes, RJ, Brazil.
Nailu Angelica SinicatoGraduate Program of Child and Adolescent Health, School of Medical Science, University of Campinas, Brazil.
Paulo Rogério JulioGraduate Program of Child and Adolescent Health, School of Medical Science, University of Campinas, Brazil.
Ana Carolina LondeGraduate Program of Child and Adolescent Health, School of Medical Science, University of Campinas, Brazil.
Roberto MariniDepartment of Pediatrics, School of Medical Science, University of Campinas, Brazil.
Vera L Gil-da-Silva-LopesDepartment of Medical Genetics and Genomic Medicine, School of Medical Sciences, University of Campinas, Brazil.
Simone AppenzellerLaboratory of Autoimmune Disease, School of Medical Science, University of Campinas, Brazil.
Universidade Estadual de Campinas (UNICAMP) · BRState University of Norte Fluminense · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Childhood-onset systemic lupus erythematosus (cSLE) is a rare, chronic and systemic autoimmune disease generally with a more severe clinical phenotype than the adult-onset SLE. In both conditions, it is known that females are predominantly affected; therefore, the possible overlap of SLE and sex chromosomal abnormalities has attracted attention. Our case report describe the clinical manifestations and immunological profile of a Brazilian female with cSLE and trisomy X. The 22 year-old patient, diagnosed with cSLE at age of 11, present some features related to 47, XXX, such as difficulties at school and communication, although this was not enough to investigate for chromosome abnormalities. Cytoscan HD array screening allowed the comprehensive diagnosis for this patient. We also characterized her ancestral composition, showing that she has 6.2% higher African component than the mean from health subjects from the same geographical area. This report reinforces the role of the X chromosome dose effect for sex bias in SLE, as well as the importance of African ancestry composition in cLES. It also throws lights upon the application of high-throughput molecular analysis in a large scale cohort can be useful to detect the impact of the genomic findings for more accurate epidemiological data.

Indexed as

Autoimmune diseaseChildhood-onset systemic lupus erythematosusCytoscan HD arrayTriple X syndrome

Identifiers

PMID32743524
PMCPMC7388342
OpenAlexW3007813368

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.