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European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

Overview of attention for article published in Orphanet Journal of Rare Diseases, November 2019
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (81st percentile)
  • High Attention Score compared to outputs of the same age and source (85th percentile)

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Title
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants
Published in
Orphanet Journal of Rare Diseases, November 2019
DOI 10.1186/s13023-019-1186-2
Pubmed ID
Authors

Ingrid M. B. H. van de Laar, Eloisa Arbustini, Bart Loeys, Erik Björck, Lise Murphy, Maarten Groenink, Marlies Kempers, Janneke Timmermans, Jolien Roos-Hesselink, Kalman Benke, Guglielmina Pepe, Barbara Mulder, Zoltan Szabolcs, Gisela Teixidó-Turà, Leema Robert, Yaso Emmanuel, Arturo Evangelista, Alessandro Pini, Yskert von Kodolitsch, Guillaume Jondeau, Julie De Backer

Abstract

The ACTA2 gene encodes for smooth muscle specific α-actin, a critical component of the contractile apparatus of the vascular smooth muscle cell. Pathogenic variants in the ACTA2 gene are the most frequently encountered genetic cause of non-syndromic hereditary thoracic aortic disease (HTAD). Although thoracic aortic aneurysm and/or dissection is the main clinical manifestation, a variety of occlusive vascular disease and extravascular manifestations occur in ACTA2-related vasculopathy. Current data suggest possible mutation-specific manifestations of vascular and extra-aortic traits.Despite its relatively high prevalence, comprehensive recommendations on the care of patients and families with pathogenic variants in ACTA2 have not yet been established. We aimed to develop a consensus document to provide medical guidance for health care professionals involved in the diagnosis and treatment of patients and relatives with pathogenic variants in ACTA2.The HTAD Working Group of the European Reference Network for Rare Vascular Diseases (VASCERN) convened to review current literature and discuss expert opinions on clinical management of ACTA2 related vasculopathy. This consensus statement summarizes our recommendations on diagnosis, monitoring, treatment, pregnancy, genetic counselling and testing in patients with ACTA2-related vasculopathy. However, there is a clear need for additional prospective multicenter studies to further define proper guidelines.

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The data shown below were collected from the profiles of 13 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 46 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 46 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 9 20%
Other 7 15%
Student > Master 3 7%
Student > Bachelor 3 7%
Student > Doctoral Student 2 4%
Other 10 22%
Unknown 12 26%
Readers by discipline Count As %
Medicine and Dentistry 17 37%
Biochemistry, Genetics and Molecular Biology 5 11%
Business, Management and Accounting 2 4%
Nursing and Health Professions 2 4%
Engineering 2 4%
Other 5 11%
Unknown 13 28%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 9. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 30 December 2019.
All research outputs
#4,102,782
of 24,940,046 outputs
Outputs from Orphanet Journal of Rare Diseases
#563
of 3,002 outputs
Outputs of similar age
#88,707
of 469,931 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#7
of 42 outputs
Altmetric has tracked 24,940,046 research outputs across all sources so far. Compared to these this one has done well and is in the 83rd percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,002 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.1. This one has done well, scoring higher than 81% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 469,931 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 81% of its contemporaries.
We're also able to compare this research output to 42 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 85% of its contemporaries.