Source:http://linkedlifedata.com/resource/pubmed/id/20174760
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
2010-4-1
|
| pubmed:abstractText |
MYH9-related disease ( MYH9-RD) is an autosomal dominant thrombocytopenia with giant platelets variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, and renal damage. MYH9-RD is caused by mutations of MYH9 , the gene encoding for non-muscle heavy-chain myosin-9. Wild-type and mutant myosin-9 aggregate as cytoplasmic inclusions in patients' leukocytes, the identification of which by immunofluorescence has been proposed as a suitable tool for the diagnosis of MYH9-RD. Since the predictive value of this assay, in terms of sensitivity and specificity, is unknown, we investigated 118 consecutive unrelated patients with a clinical presentation strongly consistent with MYH9-RD. All patients prospectively underwent both the immunofluorescence assay for myosin-9 aggregate detection and molecular genetic analysis of the MYH9 gene. Myosin-9 aggregates were identified in 82 patients, 80 of which (98%) had also a MYH9 mutation. In the remaining 36 patients neither myosin-9 aggregates nor MYH9 mutations were found. Sensitivity and specificity of the immunofluorescence assay was evaluated to be 100% and 95%, respectively. Except for the presence of aggregates, we did not find any other significant difference between patients with or without aggregates, demonstrating that the myosin-9 inclusions in neutrophils are a pathognomonic sign of the disease. However, the identification of the specific MYH9 mutation is still of importance for prognostic aspects of MYH9-RD.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Apr
|
| pubmed:issn |
0340-6245
|
| pubmed:author |
pubmed-author:BalduiniCarlo LCL,
pubmed-author:BozziValeriaV,
pubmed-author:De GrootMarco RMR,
pubmed-author:De RoccoDanielaD,
pubmed-author:FabrisFabrizioF,
pubmed-author:FreddiPaoloP,
pubmed-author:GianiMarisaM,
pubmed-author:HellerPaula GPG,
pubmed-author:LoffredoGiuseppeG,
pubmed-author:MumfordAndrewA,
pubmed-author:NorisPatriziaP,
pubmed-author:PanzaEmanueleE,
pubmed-author:PecciAlessandroA,
pubmed-author:Pujol-MoixNúriaN,
pubmed-author:RiondinoSilviaS,
pubmed-author:SavoiaAnnaA,
pubmed-author:ScandellariRaffaellaR,
pubmed-author:ScognamiglioFrancescaF,
pubmed-author:SeriMarcoM
|
| pubmed:issnType |
Print
|
| pubmed:volume |
103
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
826-32
|
| pubmed:dateRevised |
2010-10-7
|
| pubmed:meshHeading |
pubmed-meshheading:20174760-Adolescent,
pubmed-meshheading:20174760-Adult,
pubmed-meshheading:20174760-Aged,
pubmed-meshheading:20174760-Aged, 80 and over,
pubmed-meshheading:20174760-Case-Control Studies,
pubmed-meshheading:20174760-Child,
pubmed-meshheading:20174760-Child, Preschool,
pubmed-meshheading:20174760-DNA Mutational Analysis,
pubmed-meshheading:20174760-Female,
pubmed-meshheading:20174760-Fluorescent Antibody Technique,
pubmed-meshheading:20174760-Humans,
pubmed-meshheading:20174760-Inclusion Bodies,
pubmed-meshheading:20174760-Italy,
pubmed-meshheading:20174760-Male,
pubmed-meshheading:20174760-Microscopy, Fluorescence,
pubmed-meshheading:20174760-Middle Aged,
pubmed-meshheading:20174760-Molecular Motor Proteins,
pubmed-meshheading:20174760-Mutation,
pubmed-meshheading:20174760-Myosin Heavy Chains,
pubmed-meshheading:20174760-Neutrophils,
pubmed-meshheading:20174760-Predictive Value of Tests,
pubmed-meshheading:20174760-Prospective Studies,
pubmed-meshheading:20174760-Registries,
pubmed-meshheading:20174760-Sensitivity and Specificity,
pubmed-meshheading:20174760-Thrombocytopenia,
pubmed-meshheading:20174760-Young Adult
|
| pubmed:year |
2010
|
| pubmed:articleTitle |
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.
|
| pubmed:affiliation |
Medical Genetics, Department of Reproductive and Developmental Sciences, IRCCS Burlo Garofolo, University of Trieste, Trieste, Italy. savoia@burlo.trieste.it
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|