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Attention Score in Context
| Title |
Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases.
|
|---|---|
| Published in |
Archivos argentinos de pediatría, June 2017
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| DOI | 10.5546/aap.2017.e162 |
| Pubmed ID | |
| Authors |
Rosa E Enacán, María E Masnata, Fiorella Belforte, Patricia Papendieck, María C Olcese, Sofía Siffo, Laura Gruñeiro-Papendieck, Héctor Targovnik, Carina M Rivolta, Ana E Chiesa |
| Abstract |
Congenital hypothyroidism affects 1:2000-3000 newborns detected by neonatal screening programs. Dual oxidases, DUOX1 and 2, generate hydrogen peroxide needed for the thyroid hormone synthesis. Hipotiroidismo congénito transitorio por defectos bialélicos del gen DUOX2. Dos casos clínicos Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases Mutations in the DUOX2 gene have been described in transient and permanent congenital hypothyroidism. Two brothers with congenital hypothyroidism detected by neonatal screening with eutopic gland and elevated thyroglobulin are described. They were treated with levothyroxine until it could be suspended in both during childhood, assuming the picture as transient. Organification disorder was confirmed. Both patients were compounds heterozygous for a mutation in exon 9 of the paternal allele (c.1057_1058delTT, p.F353PfsX36 or p.F353fsX388) and in exon 11 of the maternal allele (c.1271T > G, p.Y425X) of DUOX2 gene. Our finding confirms that the magnitude of the defect of DUOX2 is not related to the number of inactivated alleles, suggesting compensatory mechanisms in the peroxide supply. |
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 % |
|---|---|---|
| United States | 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 12 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 12 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 3 | 25% |
| Student > Ph. D. Student | 1 | 8% |
| Student > Bachelor | 1 | 8% |
| Other | 1 | 8% |
| Unknown | 6 | 50% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 5 | 42% |
| Psychology | 1 | 8% |
| Unknown | 6 | 50% |
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 20 May 2017.
All research outputs
#20,660,571
of 25,382,440 outputs
Outputs from Archivos argentinos de pediatría
#609
of 810 outputs
Outputs of similar age
#254,491
of 330,503 outputs
Outputs of similar age from Archivos argentinos de pediatría
#4
of 9 outputs
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So far Altmetric has tracked 810 research outputs from this source. They receive a mean Attention Score of 1.7. This one is in the 15th percentile – i.e., 15% of its peers scored the same or lower than it.
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We're also able to compare this research output to 9 others from the same source and published within six weeks on either side of this one. This one has scored higher than 5 of them.