Creating a list of low-value health care activities in Swiss primary care.

Détails

ID Serval
serval:BIB_C565268516AA
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Lettre (letter): communication adressée à l'éditeur.
Collection
Publications
Titre
Creating a list of low-value health care activities in Swiss primary care.
Périodique
Jama Internal Medicine
Auteur(s)
Selby K., Gaspoz J.M., Rodondi N., Neuner-Jehle S., Perrier A., Zeller A., Cornuz J.
ISSN
2168-6114 (Electronic)
ISSN-L
2168-6106
Statut éditorial
Publié
Date de publication
2015
Peer-reviewed
Oui
Volume
175
Numéro
4
Pages
640-642
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Document Type: Letter
Résumé
Trisomy 21 is the most frequent genetic cause of cognitive impairment. To assess the perturbations of gene expression in trisomy 21, and to eliminate the noise of genomic variability, we studied the transcriptome of fetal fibroblasts from a pair of monozygotic twins discordant for trisomy 21. Here we show that the differential expression between the twins is organized in domains along all chromosomes that are either upregulated or downregulated. These gene expression dysregulation domains (GEDDs) can be defined by the expression level of their gene content, and are well conserved in induced pluripotent stem cells derived from the twins' fibroblasts. Comparison of the transcriptome of the Ts65Dn mouse model of Down's syndrome and normal littermate mouse fibroblasts also showed GEDDs along the mouse chromosomes that were syntenic in human. The GEDDs correlate with the lamina-associated (LADs) and replication domains of mammalian cells. The overall position of LADs was not altered in trisomic cells; however, the H3K4me3 profile of the trisomic fibroblasts was modified and accurately followed the GEDD pattern. These results indicate that the nuclear compartments of trisomic cells undergo modifications of the chromatin environment influencing the overall transcriptome, and that GEDDs may therefore contribute to some trisomy 21 phenotypes.
Mots-clé
Delivery of Health Care/economics, Delivery of Health Care/standards, Delphi Technique, Humans, Internal Medicine, Practice Guidelines as Topic, Primary Health Care/economics, Societies, Medical, Switzerland
Pubmed
Web of science
Open Access
Oui
Création de la notice
17/11/2014 12:19
Dernière modification de la notice
20/08/2019 15:40
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