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Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study)

Overview of attention for article published in Therapeutics and Clinical Risk Management, May 2017
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1 tweeter

Citations

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4 Dimensions

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15 Mendeley
Title
Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study)
Published in
Therapeutics and Clinical Risk Management, May 2017
DOI 10.2147/tcrm.s126301
Pubmed ID
Authors

Simona Bucerzan, Diana Miclea, Radu Popp, Camelia AlKhzouz, Cecilia Lazea, Victor Ioan Pop, Paula Grigorescu-Sido

Abstract

Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria. Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH)-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences. We analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children's Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences. The average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations (r=0.45), particularly the cardiovascular ones (r=0.44). Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y chromosome sequences were found in only one patient, who subsequently underwent gonadectomy. The importance of this study resides, to the best of our knowledge, in the fact that the largest group of patients in Romania was analyzed and assessed. To draw firm conclusions on the most valuable clinical indicators for Turner syndrome diagnosis in clinical practice, studies on large groups of patients should be conducted.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 15 100%

Demographic breakdown

Readers by professional status Count As %
Unspecified 3 20%
Student > Master 3 20%
Other 2 13%
Student > Postgraduate 2 13%
Student > Bachelor 1 7%
Other 4 27%
Readers by discipline Count As %
Medicine and Dentistry 8 53%
Unspecified 4 27%
Biochemistry, Genetics and Molecular Biology 2 13%
Chemistry 1 7%

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 16 June 2017.
All research outputs
#7,083,340
of 11,373,193 outputs
Outputs from Therapeutics and Clinical Risk Management
#591
of 839 outputs
Outputs of similar age
#138,115
of 242,301 outputs
Outputs of similar age from Therapeutics and Clinical Risk Management
#10
of 17 outputs
Altmetric has tracked 11,373,193 research outputs across all sources so far. This one is in the 23rd percentile – i.e., 23% of other outputs scored the same or lower than it.
So far Altmetric has tracked 839 research outputs from this source. They receive a mean Attention Score of 4.1. This one is in the 19th percentile – i.e., 19% 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 242,301 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 33rd percentile – i.e., 33% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 17 others from the same source and published within six weeks on either side of this one. This one is in the 35th percentile – i.e., 35% of its contemporaries scored the same or lower than it.