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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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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, Ioan Victor 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.

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Geographical breakdown

Country Count As %
Unknown 29 100%

Demographic breakdown

Readers by professional status Count As %
Student > Postgraduate 4 14%
Student > Bachelor 4 14%
Student > Master 3 10%
Other 2 7%
Student > Doctoral Student 2 7%
Other 3 10%
Unknown 11 38%
Readers by discipline Count As %
Medicine and Dentistry 10 34%
Biochemistry, Genetics and Molecular Biology 6 21%
Nursing and Health Professions 1 3%
Unknown 12 41%
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 16 June 2017.
All research outputs
#17,289,387
of 25,382,440 outputs
Outputs from Therapeutics and Clinical Risk Management
#925
of 1,323 outputs
Outputs of similar age
#206,650
of 324,557 outputs
Outputs of similar age from Therapeutics and Clinical Risk Management
#14
of 22 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 1,323 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 9.6. This one is in the 22nd percentile – i.e., 22% of its peers scored the same or lower than it.
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We're also able to compare this research output to 22 others from the same source and published within six weeks on either side of this one. This one is in the 27th percentile – i.e., 27% of its contemporaries scored the same or lower than it.