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Evaluation of biochemical and hematological parameters in adults with Down syndrome

Down syndrome (DS) is the most common worldwide cause of intellectual disability of genetic origin and the most common chromosomal disorder affecting live-born infants. In addition to intellectual disability, individuals with DS have other comorbidities and complex medical conditions. The increase i...

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Autores principales: de Gonzalo-Calvo, David, Barroeta, Isabel, Nan, Madalina Nicoleta, Rives, José, Garzón, Diana, Carmona-Iragui, María, Benejam, Bessy, Videla, Laura, Fernández, Susana, Altuna, Miren, Valldeneu, Sílvia, Blesa, Rafael, Lleó, Alberto, Blanco-Vaca, Francisco, Fortea, Juan, Tondo, Mireia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7426851/
https://www.ncbi.nlm.nih.gov/pubmed/32792619
http://dx.doi.org/10.1038/s41598-020-70719-2
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author de Gonzalo-Calvo, David
Barroeta, Isabel
Nan, Madalina Nicoleta
Rives, José
Garzón, Diana
Carmona-Iragui, María
Benejam, Bessy
Videla, Laura
Fernández, Susana
Altuna, Miren
Valldeneu, Sílvia
Blesa, Rafael
Lleó, Alberto
Blanco-Vaca, Francisco
Fortea, Juan
Tondo, Mireia
author_facet de Gonzalo-Calvo, David
Barroeta, Isabel
Nan, Madalina Nicoleta
Rives, José
Garzón, Diana
Carmona-Iragui, María
Benejam, Bessy
Videla, Laura
Fernández, Susana
Altuna, Miren
Valldeneu, Sílvia
Blesa, Rafael
Lleó, Alberto
Blanco-Vaca, Francisco
Fortea, Juan
Tondo, Mireia
author_sort de Gonzalo-Calvo, David
collection PubMed
description Down syndrome (DS) is the most common worldwide cause of intellectual disability of genetic origin and the most common chromosomal disorder affecting live-born infants. In addition to intellectual disability, individuals with DS have other comorbidities and complex medical conditions. The increase in the life expectancy of patients with DS requires expanding the knowledge about their clinical characteristics and related laboratory parameters. Several studies exploring laboratory tests in DS patients exist, but their focus is limited to specific areas of metabolism. Therefore, our main goal was to describe the biochemical and hematological findings in a DS cohort and to compare the values to those of a control population. A total of 248 DS individuals and 84 control subjects were enrolled. DS individuals had a higher frequency of several clinical conditions compared to control individuals and presented with significant differences with respect to the controls in both biochemical and hematological parameters. We found age- and sex-related differences in several of the parameters. A good understanding of the differences in our cohort might be of aid in the clinical follow-up of adults with DS, especially considering that the lifespan of DS individuals may reach 60 years of age in developed countries.
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spelling pubmed-74268512020-08-14 Evaluation of biochemical and hematological parameters in adults with Down syndrome de Gonzalo-Calvo, David Barroeta, Isabel Nan, Madalina Nicoleta Rives, José Garzón, Diana Carmona-Iragui, María Benejam, Bessy Videla, Laura Fernández, Susana Altuna, Miren Valldeneu, Sílvia Blesa, Rafael Lleó, Alberto Blanco-Vaca, Francisco Fortea, Juan Tondo, Mireia Sci Rep Article Down syndrome (DS) is the most common worldwide cause of intellectual disability of genetic origin and the most common chromosomal disorder affecting live-born infants. In addition to intellectual disability, individuals with DS have other comorbidities and complex medical conditions. The increase in the life expectancy of patients with DS requires expanding the knowledge about their clinical characteristics and related laboratory parameters. Several studies exploring laboratory tests in DS patients exist, but their focus is limited to specific areas of metabolism. Therefore, our main goal was to describe the biochemical and hematological findings in a DS cohort and to compare the values to those of a control population. A total of 248 DS individuals and 84 control subjects were enrolled. DS individuals had a higher frequency of several clinical conditions compared to control individuals and presented with significant differences with respect to the controls in both biochemical and hematological parameters. We found age- and sex-related differences in several of the parameters. A good understanding of the differences in our cohort might be of aid in the clinical follow-up of adults with DS, especially considering that the lifespan of DS individuals may reach 60 years of age in developed countries. Nature Publishing Group UK 2020-08-13 /pmc/articles/PMC7426851/ /pubmed/32792619 http://dx.doi.org/10.1038/s41598-020-70719-2 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
de Gonzalo-Calvo, David
Barroeta, Isabel
Nan, Madalina Nicoleta
Rives, José
Garzón, Diana
Carmona-Iragui, María
Benejam, Bessy
Videla, Laura
Fernández, Susana
Altuna, Miren
Valldeneu, Sílvia
Blesa, Rafael
Lleó, Alberto
Blanco-Vaca, Francisco
Fortea, Juan
Tondo, Mireia
Evaluation of biochemical and hematological parameters in adults with Down syndrome
title Evaluation of biochemical and hematological parameters in adults with Down syndrome
title_full Evaluation of biochemical and hematological parameters in adults with Down syndrome
title_fullStr Evaluation of biochemical and hematological parameters in adults with Down syndrome
title_full_unstemmed Evaluation of biochemical and hematological parameters in adults with Down syndrome
title_short Evaluation of biochemical and hematological parameters in adults with Down syndrome
title_sort evaluation of biochemical and hematological parameters in adults with down syndrome
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7426851/
https://www.ncbi.nlm.nih.gov/pubmed/32792619
http://dx.doi.org/10.1038/s41598-020-70719-2
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