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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Síndrome H: primer caso pediátrico reportado en América Latina
|
|---|---|
| Published in |
Revista chilena de pediatría, April 2016
|
| DOI | 10.1016/j.rchipe.2016.03.006 |
| Pubmed ID | |
| Authors |
Hugo Hernán Abarca Barriga, Milana Trubnykova, Victoria Polar Córdoba, Katherine Joyce Ramos Diaz, Nélida Aviles Alfaro |
| Abstract |
H Syndrome is an extremely rare genetic disease, with a multisystemic character and which can be identified in early childhood, offering the opportunity of specific treatment and genetic counselling. To present a clinical case with "typical" characteristics of H Syndrome. The case is presented of an 8-year-old male patient who presented with testicular tumours and skin lesions characterised by hyperpigmentation with hypertrichosis, language delay, short stature, and joint deformities. He also presented with bilateral sensorineural hearing loss, anaemia, hypergammaglobulinaemia, and bone disorders. Histopathology studies of the skin and testicular masses reported lymphoplasmacytic infiltration. Sequencing analysis of gene SLC29A3 showed the homozygote mutation c.1087 C>T (p.Arg363Trp; rs387907067). These findings are consistent with H syndrome, and this is the first reported case in Latin America. The key to the diagnosis is the finding of hyperpigmentation with hypertrichosis. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 8 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 8 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Postgraduate | 2 | 25% |
| Student > Bachelor | 1 | 13% |
| Librarian | 1 | 13% |
| Researcher | 1 | 13% |
| Student > Ph. D. Student | 1 | 13% |
| Other | 0 | 0% |
| Unknown | 2 | 25% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 4 | 50% |
| Social Sciences | 1 | 13% |
| Biochemistry, Genetics and Molecular Biology | 1 | 13% |
| Unknown | 2 | 25% |
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 11 April 2017.
All research outputs
#21,011,157
of 25,806,080 outputs
Outputs from Revista chilena de pediatría
#394
of 653 outputs
Outputs of similar age
#233,648
of 313,106 outputs
Outputs of similar age from Revista chilena de pediatría
#6
of 14 outputs
Altmetric has tracked 25,806,080 research outputs across all sources so far. This one is in the 10th percentile – i.e., 10% of other outputs scored the same or lower than it.
So far Altmetric has tracked 653 research outputs from this source. They receive a mean Attention Score of 2.3. This one is in the 29th percentile – i.e., 29% 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 313,106 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 13th percentile – i.e., 13% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 14 others from the same source and published within six weeks on either side of this one. This one is in the 28th percentile – i.e., 28% of its contemporaries scored the same or lower than it.