Evidence map›Paper›PMID 37761944›Full record

ArticleGenes2023

Sex Differences in Anderson-Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women.

Denise Cristiana Faro, Valentina Losi, Margherita Stefania Rodolico, Elvira Mariateresa Torrisi, Paolo Colomba, Giovanni Duro, Ines Paola Monte

Open access · goldAbstract read
In one paragraph

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
2.8field-weighted citation impact, top 9% 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

15 citing papers in PubMed, 16 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Observational
  12. Review
  13. Article
  14. Role of standard echocardiography in Anderson-Fabry disease.Frontiers in cardiovascular medicine · 2024
    Review
  15. Cardiomyopathies in Women.Methodist DeBakey cardiovascular journal · 2024
    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

7 authors at 2 institutions in 1 country.

Denise Cristiana FaroDepartment of Surgery and Medical-Surgical Specialties, University of Catania, Via Santa Sofia 78, 95123 Catania, Italy.ORCID 0000-0002-6568-6176
Valentina LosiDepartment of Surgery and Medical-Surgical Specialties, University of Catania, Via Santa Sofia 78, 95123 Catania, Italy.ORCID 0000-0001-9328-4417
Margherita Stefania RodolicoInstitute for Biomedical Research and Innovation, National Research Council (IRIB-CNR), Section of Catania, Via P. Gaifami 18, 95126 Catania, Italy.ORCID 0000-0002-6878-9779
Elvira Mariateresa TorrisiDepartment of Surgery and Medical-Surgical Specialties, University of Catania, Via Santa Sofia 78, 95123 Catania, Italy.
Paolo ColombaInstitute for Biomedical Research and Innovation, National Research Council (IRIB-CNR), Via Ugo La Malfa 153, 90146 Palermo, Italy.ORCID 0000-0002-2470-7030
Giovanni DuroInstitute for Biomedical Research and Innovation, National Research Council (IRIB-CNR), Via Ugo La Malfa 153, 90146 Palermo, Italy.
Ines Paola MonteDepartment of Surgery and Medical-Surgical Specialties, University of Catania, Via Santa Sofia 78, 95123 Catania, Italy.ORCID 0000-0001-7059-7525
University of Catania · ITInstitute for Biomedical Research and Innovation · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Anderson-Fabry Disease (AFD) is a rare, systemic lysosomal storage disease triggered by mutations in the GLA gene, leading to α-galactosidase A (α-Gal A) deficiency. The disease's X-linked inheritance leads to more severe, early-onset presentations in males, while females exhibit variable, often insidious, manifestations, notably impacting cardiac health. This study aims to examine gender-based AFD cardiac manifestations in correlation with the variant type: classical (CL), late-onset (LO), or variants of uncertain significance (VUS). We analyzed data from 72 AFD patients (53 females, 19 males) referred to the "G. Rodolico" University Hospital, employing enzyme activity measurements, genetic analysis, periodic lyso-Gb3 monitoring, comprehensive medical histories, and advanced cardiac imaging techniques. Statistical analysis was performed using SPSS version 26. Our AFD cohort, with an average age of 45 ± 16.1 years, comprised 12 individuals with hypertrophy (AFD-LVH) and 60 without (AFD-N). Women, representing about 75% of the subjects, were generally older than men (47.2 ± 16.2 vs. 38.8 ± 14.6,

Indexed as

CardiomyopathiesFabry DiseaseAdultalpha-GalactosidaseFemaleHumansHypertrophyMaleMiddle AgedSex Characteristicsalpha-GalactosidaseAnderson–Fabry diseasecardiac hypertrophygender differencesspeckle tracking echocardiographyX-linked transmission

Identifiers

PMID37761944
PMCPMC10531426
OpenAlexW4386814710

What OpenQuestion holds

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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.