Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. (Registro nro. 7039)
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| 000 -CABECERA | |
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| Campo de control de longitud fija | 05113na a2200853 4500 |
| 003 - IDENTIFICADOR DEL NÚMERO DE CONTROL | |
| Campo de control | PC7039 |
| 005 - FECHA Y HORA DE LA ÚLTIMA TRANSACCIÓN | |
| Campo de control | 20190725133030.0 |
| 008 - CÓDIGOS DE INFORMACIÓN DE LONGITUD FIJA | |
| Campo de control de longitud fija | 130622s2013 xxx||||| |||| 00| 0 eng d |
| 040 ## - FUENTE DE LA CATALOGACIÓN | |
| Centro transcriptor | H12O |
| 041 ## - CÓDIGO DE LENGUA | |
| Código de lengua del texto/banda sonora o título independiente | eng |
| 100 ## - PUNTO DE ACCESO PRINCIPAL - NOMBRE DE PERSONA | |
| Nombre de persona | Núñez Enamorado, Noemí |
| 9 (RLIN) | 1433 |
| Término indicativo de función | Pediatría |
| 100 ## - PUNTO DE ACCESO PRINCIPAL - NOMBRE DE PERSONA | |
| Nombre de persona | Simón de las Heras, Rogelio |
| 9 (RLIN) | 1347 |
| Término indicativo de función | Neurología |
| 245 00 - MENCIÓN DE TÍTULO | |
| Título | Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. |
| Tipo de material | [artículo] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT) | |
| Nombre del editor distribuidor etc. | Lancet Neurology, |
| Fecha de publicación distribución etc. | 2013 |
| 300 ## - DESCRIPCIÓN FÍSICA | |
| Extensión | 12(12):1159-69. |
| 500 ## - NOTA GENERAL | |
| Nota general | Formato Vancouver: Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS et al. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol. 2013 Dec;12(12):1159-69. |
| 501 ## - NOTA DE “CON” | |
| Nota de "Con" | PMID: 24183309 |
| 504 ## - NOTA DE BIBLIOGRAFÍA; ETC. | |
| Nota de bibliografía etc. | Contiene 46 referencias |
| 520 ## - NOTA DE SUMARIO; ETC. | |
| Sumario etc. | Background Aicardi-Goutieres syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR). The disease is severe and effective treatments are urgently needed. We investigated the status of interferon-related biomarkers in patients with AGS with a view to future use in diagnosis and clinical trials. Methods In this case-control study, samples were collected prospectively from patients with mutation-proven AGS. The expression of six interferon-stimulated genes (ISGs) was measured by quantitative PCR, and the median fold change, when compared with the median of healthy controls, was used to create an interferon score for each patient. Scores higher than the mean of controls plus two SD (>2.466) were designated as positive. Additionally, we collated historical data for interferon activity, measured with a viral cytopathic assay, in C SF and serum from mutation-positive patients with AGS. We also undertook neutralisation assays of interferon activity in serum, and looked for the presence of autoantibodies against a panel of interferon proteins. Findings 74 (90%) of 82 patients had a positive interferon score (median 12.90, IQR 6.14-20-41) compared with two (7%) of 29 controls (median 0.93, IQR 0.57-1.30). Of the eight patients with a negative interferon score, seven had mutations in RNASEH2B (seven [27%] of all 26 patients with mutations in this gene). Repeat sampling in 16 patients was consistent for the presence or absence of an interferon signature on 39 of 41 occasions. Interferon activity (tested in 147 patients) was negatively correlated with age (C SF, r=-0.604; serum, r=-0.289), and was higher in CSF than in serum in 104 of 136 paired samples. Neutralisation assays suggested that measurable antiviral activity was related to interferon a production. We did not record significantly increased concentrations of autoantibodies to interferon subtypes in patients with AGS, or an association between the presence of autoantibodies and interferon score or serum interferon activity. Interpretation AGS is consistently associated with an interferon signature, which is apparently sustained over time and can thus be used to differentiate patients with AGS from controls. If future studies show that interferon status is a reactive biomarker, the measurement of an interferon score might prove useful in the assessment of treatment efficacy in clinical trials. |
| 710 ## - PUNTO DE ACCESO ADICIONAL - NOMBRE DE ENTIDAD | |
| 9 (RLIN) | 446 |
| Nombre de entidad o nombre de jurisdicción como elemento inicial | Servicio de Pediatría-Neonatología |
| 856 ## - LOCALIZACIÓN Y ACCESO ELECTRÓNICOS | |
| Identificador Uniforme del Recurso (URI) | http://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/7/pc7039.pdf |
| Acceso | Solicitar documento |
| 942 ## - ENTRADA PARA ELEMENTOS AGREGADOS (KOHA) | |
| Suprimido en OPAC | Público |
| Fuente de clasificación o esquema de ordenación en estanterías | |
| Koha [por defecto] tipo de item | Artículo |
| Suprimido | Estado de pérdida | Fuente de clasificación o esquema de ordenación en estanterías | Estropeado | No para préstamo | Localización permanente | Localización actual | Fecha de adquisición | Signatura completa | Fecha última consulta | Fecha del precio de reemplazo | Tipo de item de Koha |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Hospital Universitario 12 de Octubre | Hospital Universitario 12 de Octubre | 2019-07-25 | PC7039 | 2019-07-25 | 2019-07-25 | Artículo |
