Evidence map›Paper›PMID 35456364›Full record

ArticleGenes2022

Clinical Characteristics in the Longitudinal Follow-Up of APECED Syndrome in Southern Croatia-Case Series.

Veselin Skrabic, Ivna Skrabic, Roko Skrabic, Blanka Roje, Marko Simunovic

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
1.4field-weighted citation impact, top 18% 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

8 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Review
  5. Review
  6. Article
  7. Addison's Disease: Diagnosis and Management Strategies.International journal of general medicine · 2023
    Review
  8. Review
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

5 authors at 1 institution in 1 country.

Veselin SkrabicDepartment of Pediatrics, University Hospital of Split, Spinciceva 1, 21000 Split, Croatia.
Ivna SkrabicDepartment of Pediatrics, University Hospital of Split, Spinciceva 1, 21000 Split, Croatia.
Roko SkrabicDepartment of Nephrology, University Hospital of Split, Spinciceva 1, 21000 Split, Croatia.
Blanka RojeLaboratory for Cancer Research, University of Split School of Medicine, Soltanska 2, 21000 Split, Croatia.
Marko SimunovicDepartment of Pediatrics, University Hospital of Split, Spinciceva 1, 21000 Split, Croatia.ORCID 0000-0002-5720-0893
University of Split · HR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAutoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare monogenetic autosomal recessive disorder caused by a mutation in the autoimmune regulator (

methods7 patients were recruited in this case series in a period of the last 37 years from Southern Croatia. All patients were screened for

resultsThis study group had a mean current age of 25.3 years (age range from 5.4 to 40.2 years), while the mean age at the onset of the disease was 6.5 years (age range from 0.7 to 9.2 years) and with a mean follow-up period of 17.8 years. The overall prevalence of APECED syndrome is estimated to be 1 in 75,000. The most common initial manifestation of the disease was onychodystrophy, while the first major component of APECED syndrome was chronic mucocutaneous candidiasis.

conclusionsAPECED is a ''multi-faced'' disease based on the very unpredictable and inconsistent onset of major components. Furthermore, based on our results, we suggest that onychodystrophy could be included as a warning sign of APECED syndrome.

Indexed as

Polyendocrinopathies, AutoimmuneAdolescentAdultChildChild, PreschoolCroatiaFollow-Up StudiesHumansInfantMutationYoung AdultAddison’s diseaseAPECEDAPS1chronic mucocutaneous candidiasishypoparathyroidism

Identifiers

PMID35456364
PMCPMC9027969
OpenAlexW4221049424

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.