Evidence map›Paper›PMID 29191495›Full record

ReviewEuropean journal of medical genetics2018

Atopic disorders in CHARGE syndrome: A retrospective study and literature review.

Fang Kong, Donna M Martin

Abstract readReview
In one paragraph

Review in European journal of medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.3field-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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. 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

2 authors at 2 institutions in 2 countries.

Fang KongDepartment of Rheumatology and Allergy, Xuanwu Hospital, Capital Medical University, Beijing, China.
Donna M MartinDepartment of Pediatrics and Communicable Diseases, The University of Michigan Medical School, Ann Arbor, MI, USA; Department of Human Genetics, The University of Michigan Medical School, Ann Arbor, MI, USA. Electronic address: donnamm@umich.edu.
Capital Medical University · CNUniversity of Michigan · US

Funding

Developmental Mechanisms of the Chromodomain Gene Chd7R01DC009410 · NIDCD · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI MARTIN, DONNA M. · 2009 to 2018
$3.7M
Exploration of Connexin26 Genotypes, Phenotypes, and Gene ReplacementR01DC014456 · NIDCD · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI MARTIN, DONNA M., RAPHAEL, YEHOASH · 2016 to 2020
$2.5M
NIDCD NIH HHS R01 DC009410NIDCD NIH HHS R01 DC014456
6 · The paper itself

Abstract

backgroundAtopic disorders have been reported in CHARGE syndrome, but the prevalence and underlying mechanisms are not known.

methodsWe performed a retrospective study of atopic disorders in 23 individuals with CHARGE syndrome, and reviewed other published reports of atopic disorders in CHARGE syndrome. We assayed for enrichment of atopic disorders in CHARGE syndrome based on gender and presence of a CHD7 pathogenic variant.

resultsIn our cohort, 65% (15/23) of individuals with CHARGE syndrome were found to have a pathogenic CHD7 variant. Overall, 65% (15/23) of individuals with CHARGE had atopic disorders. Among the 23 individuals with CHARGE, 22% (5/23) had food allergy, 26% (6/23) exhibited drug allergy, 22% (5/23) had contact allergy, 9% (2/23) had allergic rhinitis, and 22% (5/23) had asthma. In our cohort, the proportion of males to females with CHARGE and atopic disorders was 11:4 (P < 0.01), and there was no significant difference between atopic disorders in individuals with CHD7 pathogenic variants and those without CHD7 pathogenic variants (P > 0.05).

conclusionIn our cohort of 23 individuals with CHARGE syndrome, 15 (65%) exhibited atopic disorders, with a slight male predominance.

Indexed as

PhenotypeAdolescentCHARGE SyndromeChildChild, PreschoolDNA-Binding ProteinsDNA HelicasesFemaleHumansMaleMutation RateSex FactorsCHD7 protein, humanDNA-Binding ProteinsDNA HelicasesAllergyAtopic disordersCHARGE syndromeCHD7

Identifiers

PMID29191495
PMCPMC5849503
OpenAlexW2769136477

What OpenQuestion holds

Textmetadata
LicenceTDM
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.