Predictive Value of Serum Antibodies and Point Mutations of AQP4, AQP1 and MOG in A Cohort of Spanish Patients with Neuromyelitis Optica Spectrum Disorders

The detection of IgG aquaporin-4 antibodies in the serum of patients with Neuromyelitis optica (NMO) has dramatically improved the diagnosis of this disease and its distinction from multiple sclerosis. Recently, a group of patients have been described who have an NMO spectrum disorder (NMOsd) and who are seronegative for AQP4 antibodies but positive for IgG aquaporin-1 (AQP1) or myelin oligodendrocyte glycoprotein (MOG) antibodies. The purpose of this study was to determine whether AQP1 and MOG could be considered new biomarkers of this disease; and if point mutations in the gDNA of AQP4, AQP1 and MOG genes could be associated with the etiology of NMOsd. We evaluated the diagnostic capability of ELISA and cell-based assays (CBA), and analyzed their reliability, specificity, and sensitivity in detecting antibodies against these three proteins. The results showed that both assays can recognize these antigen proteins under appropriate conditions, but only anti-AQP4 antibodies, and not AQP1 or MOG, appears to be a clear biomarker for NMOsd. CBA is the best method for detecting these antibodies; and serum levels of AQP4 antibodies do not correlate with the progression of this disease. So far, the sequencing analysis has not revealed a genetic basis for the etiology of NMOsd, but a more extensive analysis is required before definitive conclusions can be drawn.Ministerio de Economía y CompetitividadFEDER (Grants PI16/01249 y PI16/00493

A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis

BACKGROUND: Non-hereditary colorectal cancer (CRC) is a complex disorder resulting from the combination of genetic and non-genetic factors. Genome-wide association studies (GWAS) are useful for identifying such genetic susceptibility factors. However, the single loci so far associated with CRC only represent a fraction of the genetic risk for CRC development in the general population. Therefore, many other genetic risk variants alone and in combination must still remain to be discovered. The aim of this work was to search for genetic risk factors for CRC, by performing single-locus and two-locus GWAS in the Spanish population. RESULTS: A total of 801 controls and 500 CRC cases were included in the discovery GWAS dataset. 77 single nucleotide polymorphisms (SNP)s from single-locus and 243 SNPs from two-locus association analyses were selected for replication in 423 additional CRC cases and 1382 controls. In the meta-analysis, one SNP, rs3987 at 4q26, reached GWAS significant p-value (p = 4.02×10(-8)), and one SNP pair, rs1100508 CG and rs8111948 AA, showed a trend for two-locus association (p = 4.35×10(-11)). Additionally, our GWAS confirmed the previously reported association with CRC of five SNPs located at 3q36.2 (rs10936599), 8q24 (rs10505477), 8q24.21(rs6983267), 11q13.4 (rs3824999) and 14q22.2 (rs4444235). CONCLUSIONS: Our GWAS for CRC patients from Spain confirmed some previously reported associations for CRC and yielded a novel candidate risk SNP, located at 4q26. Epistasis analyses also yielded several novel candidate susceptibility pairs that need to be validated in independent analyses

Radiological Characteristics of Carbonated Portland Cement Mortars Made with GGBFS

The objective of this study is to assess whether the carbonation process can modify the physicochemical characteristics of the natural radionuclides of the three natural radioactive series, together with 40K. Three mortar specimens with different percentages of ground granulated blast-furnace slag (GGBFS), cured under water for 1, 3, 7, 14, or 28 days, were subjected to a natural carbonation process. Activity concentrations for the solid and ground mortars were determined by gamma spectrometry and by radiochemical separation of isotopic uranium. The novelty of this paper relies principally on the study we have carried out, for the first time, of the radiological characteristics of carbonated Portland cement mortars. It was found that the chemical properties of the 3 mortar specimens were not affected by the carbonation process, with particular attention placed on uranium (238U, 235U, and 234U), the activity concentrations of which were equivalent to the 226Ra results and ranged from 5.5 ± 1.6 Bq kg−1 to 21.4 ± 1.2 Bq kg−1 for the 238U. The average activity concentrations for the 3 types of mortars were lower than 20.1 Bq kg−1, 14.5 Bq kg−1, and 120.2 Bq kg−1 for the 226Ra, 232Th (212Pb), and 40K, respectively. Annual effective dose rates were equivalent to the natural background of 0.024 mSv. In addition, it was observed that the variation rate for the 222Rn emanation was due primarily to the Portland cement hydration and not due to the pore size redistribution as a consequence of the carbonation process. This research will provide new insights into the potential radiological risk from carbonated cement-based materials. Moreover, the assessment that is presented in this study will convey valuable information for future research that will explore the activity concentration of building materials containing NORM materials

Relación familia-centro

De los dos documentos que se adjuntan, uno es una memoria del trabajo y otro un informe del estudio con las propuestas y los cuestionarios de recogida de informaciónUn grupo de trabajo formado por 11 profesores de un centro de secundaria han reflexionado acerca de la importancia de las relaciones entre la familia y el centro educativo como sistemas fundamentales en la educación, debiendo converger ambos en una misma dirección. Se han estudiado sistemas educativos internacionales (Filandia, Reino Unido, Francia y Estados Unidos) de diferente filosofía y de la misma manera se ha hecho un estudio exhaustivo de diferentes experiencias educativas españolas (Cataluña, Castilla- León, Extremadura, Comunidad valenciana y Andalucía) Como consecuencia de estos análisis se generan propuestas de aplicación de cara a mejorar la relación entre entre las familias y el instituto ya que se ha llevado a cabo un análisis sobre la realidad del centro (concretamente en el primer ciclo de la ESO) a través de diversos cuestionarios dirigidos tanto al alumnado como a los propios padres y de la adopción de propuestas dirigidas a animar a la participación y colaboración de las familias.Comunidad Autónoma de la Región de Murcia. Dirección General de Formación Profesional e Innovación EducativaMurciaConsejería de Educación y Cultura. Secretaría General; Av. de la Fama, 15; 30006 Murcia; Tel. +34968279685; Fax +34968279835; [email protected]

A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis

BACKGROUND: Non-hereditary colorectal cancer (CRC) is a complex disorder resulting from the combination of genetic and non-genetic factors. Genome-wide association studies (GWAS) are useful for identifying such genetic susceptibility factors. However, the single loci so far associated with CRC only represent a fraction of the genetic risk for CRC development in the general population. Therefore, many other genetic risk variants alone and in combination must still remain to be discovered. The aim of this work was to search for genetic risk factors for CRC, by performing single-locus and two-locus GWAS in the Spanish population. RESULTS: A total of 801 controls and 500 CRC cases were included in the discovery GWAS dataset. 77 single nucleotide polymorphisms (SNP)s from single-locus and 243 SNPs from two-locus association analyses were selected for replication in 423 additional CRC cases and 1382 controls. In the meta-analysis, one SNP, rs3987 at 4q26, reached GWAS significant p-value (p = 4.02×10(-8)), and one SNP pair, rs1100508 CG and rs8111948 AA, showed a trend for two-locus association (p = 4.35×10(-11)). Additionally, our GWAS confirmed the previously reported association with CRC of five SNPs located at 3q36.2 (rs10936599), 8q24 (rs10505477), 8q24.21(rs6983267), 11q13.4 (rs3824999) and 14q22.2 (rs4444235). CONCLUSIONS: Our GWAS for CRC patients from Spain confirmed some previously reported associations for CRC and yielded a novel candidate risk SNP, located at 4q26. Epistasis analyses also yielded several novel candidate susceptibility pairs that need to be validated in independent analyses