Desarrollo de las técnicas forenses nucleares:valoración de riesgos

La ciencia forense nuclear ha evolucionado como respuesta al creciente número de incidentes relacionados con materiales radiactivos o nucleares fuera de control regulado y su posible uso en actos maliciosos. El objetivo último de la ciencia forense en un incidente intencionado con este tipo de material es la identificación de los responsables; para ello, el estudio forense debe incluir las respuestas a las dos preguntas más importantes: el origen del material y la identificación de los responsables de la acción. El origen del material se determina a través del análisis físico (morfología), y la caracterización química (trazabilidad de la composición, isótopos,…) mientras que la identificación de los autores requiere el uso de métodos forenses tradicionales, incluyendo disciplinas como el estudio del ADN o las huellas dactilares..

Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis

Objective: To analyse the role of the PTPN22 and CSK genes, previously associated with autoimmunity, in the predisposition and clinical phenotypes of giant cell arteritis (GCA). Methods: Our study population was composed of 911 patients diagnosed with biopsy-proven GCA and 8136 unaffected controls from a Spanish discovery cohort and three additional independent replication cohorts from Germany, Norway and the UK. Two functional PTPN22 polymorphisms (rs2476601/R620W and rs33996649/R263Q) and two variants of the CSK gene (rs1378942 and rs34933034) were genotyped using predesigned TaqMan assays. Results: The analysis of the discovery cohort provided evidence of association of PTPN22 rs2476601/R620W with GCA (PFDR=1.06E-04, OR=1.62, CI 95% 1.29 to 2.04). The association did not appear to follow a specific GCA subphenotype. No statistically significant differences between allele frequencies for the other PTPN22 and CSK genetic variants were evident either in the case/control or in stratified case analysis. To confirm the detected PTPN22 association, three replication cohorts were genotyped, and a consistent association between the PTPN22 rs2476601/R620W variant and GCA was evident in the overall meta-analysis (PMH=2.00E-06, OR=1.51, CI 95% 1.28 to 1.79). Conclusions: Our results suggest that the PTPN22 polymorphism rs2476601/R620W plays an important role in the genetic risk to GCA

Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

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