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Síndrome de Cornelia de Lange: incidencia de cardiopatía congénita en 149 pacientes

Overview of attention for article published in Medicina Clínica (ScienceDirect), June 2017
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Title
Síndrome de Cornelia de Lange: incidencia de cardiopatía congénita en 149 pacientes
Published in
Medicina Clínica (ScienceDirect), June 2017
DOI 10.1016/j.medcli.2017.03.051
Pubmed ID
Authors

Ariadna Ayerza Casas, Beatriz Puisac Uriol, María Esperanza Teresa Rodrigo, María Hernández Marcos, Feliciano J. Ramos Fuentes, Juan Pie Juste

Abstract

Cornelia de Lange syndrome (CdLS) is produced by mutations in genes that encode regulatory or structural proteins of the cohesin complex. Congenital heart disease (CHD) is not a major criterion of the disease, but it affects many individuals. The objective of this study was to study the incidence and type of CHD in patients with CdLS. Cardiological findings were evaluated in 149 patients with CdLS and their possible relationship with clinical and genetic variables. A percentage of 34.9 had CHD (septal defects 50%, pulmonary stenosis 27%, aortic coarctation 9.6%). The presence of CHD was related with neonatal hospitalisation (P=.04), hearing loss (P=.002), mortality (P=.09) and lower hyperactivity (P=.02), it being more frequent in HDAC8+ patients (60%), followed by NIPBL+ (33%) and SMC1A+ (28.5%). While septal defects predominate in NIPBL+, pulmonary stenosis is more common in HDAC8+. Patients with CdLS have a high incidence of CHD, which varies according to the affected gene, the most frequent findings being septal defects and pulmonary stenosis. Perform a cardiologic study in all these patients is suggested.

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Mendeley readers

Mendeley readers

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Geographical breakdown

Country Count As %
Unknown 9 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 2 22%
Student > Ph. D. Student 1 11%
Other 1 11%
Unknown 5 56%
Readers by discipline Count As %
Medicine and Dentistry 3 33%
Agricultural and Biological Sciences 1 11%
Biochemistry, Genetics and Molecular Biology 1 11%
Unknown 4 44%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 21 June 2017.
All research outputs
#17,289,387
of 25,382,440 outputs
Outputs from Medicina Clínica (ScienceDirect)
#1,113
of 2,052 outputs
Outputs of similar age
#202,614
of 317,360 outputs
Outputs of similar age from Medicina Clínica (ScienceDirect)
#33
of 64 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. This one is in the 21st percentile – i.e., 21% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,052 research outputs from this source. They receive a mean Attention Score of 4.6. This one is in the 35th percentile – i.e., 35% of its peers scored the same or lower than it.
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 317,360 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 27th percentile – i.e., 27% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 64 others from the same source and published within six weeks on either side of this one. This one is in the 37th percentile – i.e., 37% of its contemporaries scored the same or lower than it.