Joint and muscle pain with mononeuritis multiplex, tetraparesis, and myocardial infarction in a previously healthy adult.

Details

Serval ID
serval:BIB_1071CB06EA4C
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
Joint and muscle pain with mononeuritis multiplex, tetraparesis, and myocardial infarction in a previously healthy adult.
Journal
Annals of the Rheumatic Diseases
Author(s)
Wagner A.D., Feist T., Prondzinsky R., Fleig W.E., Keysser G.
ISSN
0003-4967 (Print)
ISSN-L
0003-4967
Publication state
Published
Issued date
2001
Peer-reviewed
Oui
Volume
60
Number
11
Pages
1003-1006
Language
english
Notes
Publication types: Case Reports ; Journal ArticlePublication Status: ppublish
Abstract
Phenome-wide association is a novel reverse genetic strategy to analyze genome-to-phenome relations in human clinical cohorts. Here we test this approach using a large murine population segregating for ∼5 million sequence variants, and we compare our results to those extracted from a matched analysis of gene variants in a large human cohort. For the mouse cohort, we amassed a deep and broad open-access phenome consisting of ∼4,500 metabolic, physiological, pharmacological and behavioural traits, and more than 90 independent expression quantitative trait locus (QTL), transcriptome, proteome, metagenome and metabolome data sets-by far the largest coherent phenome for any experimental cohort (www.genenetwork.org). We tested downstream effects of subsets of variants and discovered several novel associations, including a missense mutation in fumarate hydratase that controls variation in the mitochondrial unfolded protein response in both mouse and Caenorhabditis elegans, and missense mutations in Col6a5 that underlies variation in bone mineral density in both mouse and human.
Keywords
Cyclophosphamide/therapeutic use, Humans, Immunoglobulins, Intravenous/therapeutic use, Immunosuppressive Agents/therapeutic use, Male, Methylprednisolone/therapeutic use, Middle Aged, Mononeuropathies/diagnosis, Mononeuropathies/drug therapy, Myocardial Infarction/diagnosis, Myocardial Infarction/drug therapy, Neuroprotective Agents/therapeutic use, Polyarteritis Nodosa/complications, Polyarteritis Nodosa/diagnosis, Quadriplegia/diagnosis, Quadriplegia/drug therapy, Treatment Outcome
Pubmed
Web of science
Open Access
Yes
Create date
16/02/2016 18:25
Last modification date
20/08/2019 13:37
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