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What people with Down Syndrome can teach us about cardiopulmonary disease

Down syndrome is the most common chromosomal abnormality among live-born infants. Through full or partial trisomy of chromosome 21, Down syndrome is associated with cognitive impairment, congenital malformations (particularly cardiovascular) and dysmorphic features. Immune disturbances in Down syndr...

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Detalles Bibliográficos
Autores principales: Colvin, Kelley L., Yeager, Michael E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: European Respiratory Society 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9489111/
https://www.ncbi.nlm.nih.gov/pubmed/28223397
http://dx.doi.org/10.1183/16000617.0098-2016
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author Colvin, Kelley L.
Yeager, Michael E.
author_facet Colvin, Kelley L.
Yeager, Michael E.
author_sort Colvin, Kelley L.
collection PubMed
description Down syndrome is the most common chromosomal abnormality among live-born infants. Through full or partial trisomy of chromosome 21, Down syndrome is associated with cognitive impairment, congenital malformations (particularly cardiovascular) and dysmorphic features. Immune disturbances in Down syndrome account for an enormous disease burden ranging from quality-of-life issues (autoimmune alopecia) to more serious health issues (autoimmune thyroiditis) and life-threatening issues (leukaemia, respiratory tract infections and pulmonary hypertension). Cardiovascular and pulmonary diseases account for ∼75% of the mortality seen in persons with Down syndrome. This review summarises the cardiovascular, respiratory and immune challenges faced by individuals with Down syndrome, and the genetic underpinnings of their pathobiology. We strongly advocate increased comparative studies of cardiopulmonary disease in persons with and without Down syndrome, as we believe these will lead to new strategies to prevent and treat diseases affecting millions of people worldwide.
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spelling pubmed-94891112022-11-14 What people with Down Syndrome can teach us about cardiopulmonary disease Colvin, Kelley L. Yeager, Michael E. Eur Respir Rev Reviews Down syndrome is the most common chromosomal abnormality among live-born infants. Through full or partial trisomy of chromosome 21, Down syndrome is associated with cognitive impairment, congenital malformations (particularly cardiovascular) and dysmorphic features. Immune disturbances in Down syndrome account for an enormous disease burden ranging from quality-of-life issues (autoimmune alopecia) to more serious health issues (autoimmune thyroiditis) and life-threatening issues (leukaemia, respiratory tract infections and pulmonary hypertension). Cardiovascular and pulmonary diseases account for ∼75% of the mortality seen in persons with Down syndrome. This review summarises the cardiovascular, respiratory and immune challenges faced by individuals with Down syndrome, and the genetic underpinnings of their pathobiology. We strongly advocate increased comparative studies of cardiopulmonary disease in persons with and without Down syndrome, as we believe these will lead to new strategies to prevent and treat diseases affecting millions of people worldwide. European Respiratory Society 2017-02-22 /pmc/articles/PMC9489111/ /pubmed/28223397 http://dx.doi.org/10.1183/16000617.0098-2016 Text en Copyright ©ERS 2017. https://creativecommons.org/licenses/by-nc/4.0/ERR articles are open access and distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0.
spellingShingle Reviews
Colvin, Kelley L.
Yeager, Michael E.
What people with Down Syndrome can teach us about cardiopulmonary disease
title What people with Down Syndrome can teach us about cardiopulmonary disease
title_full What people with Down Syndrome can teach us about cardiopulmonary disease
title_fullStr What people with Down Syndrome can teach us about cardiopulmonary disease
title_full_unstemmed What people with Down Syndrome can teach us about cardiopulmonary disease
title_short What people with Down Syndrome can teach us about cardiopulmonary disease
title_sort what people with down syndrome can teach us about cardiopulmonary disease
topic Reviews
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9489111/
https://www.ncbi.nlm.nih.gov/pubmed/28223397
http://dx.doi.org/10.1183/16000617.0098-2016
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