Chemical composition of soil and vegetation of large petrochemical complex of Tobolsk

For the study, sites were selected that were located in the immediate vicinity of the construction site of a large petrochemical complex. The chemical composition of the total phytomass of monitoring sites was determined. The accumulation range, the most accumulated heavy metals and trace elements, varied within the limits: Zn (0,88-5,45); Cd (0.10-0.13); Co (0.20-0.18); Pb (0.42-0.52); Cr (0.14-1.48); Ni (1.72-5.19) mg / kg. The biogenic and salt compositions of the soil were studied. It was revealed that the soils of the plots are nonsaline, slightly acidic, biogenic elements are concentrated in the upper horizons

Clínqueres Pórtland Belíticos. Síntesis y Análisis Mineralógico

[EN] The quaternary system CaO-SiO2-Al2O3-Fe2O3 has been taken into account to design five compositions of belite Portland clinkers with belite (Ca2SiO4) contents ranging from 60 to 65 wt%, located in its primary phase field of crystallization. The synthesis of these belite clinkers has been studied by high temperature microscopy, dilatometry, differential thermal analysis and thermogravimetric analysis. As a result, the optimum clinkerization temperature has been established at 1360 ± 5ºC. The quantitative phase analyses of the clinkers were carried out by X-ray powder diffraction with the Rietveld methodology. The mineralogical composition depends on the initial dosages, on the highest temperature achieved and on the time of residence at this temperature. The reaction was completed at 1365ºC during 15 min (free CaO <0.5 wt%), in those conditions the β-belite form is stabilized and the harmful transformation β→γ is avoided.[ES] Teniendo en cuenta el sistema cuaternario CaO-SiO2-Al2O3-Fe2O3, se han diseñado cinco composiciones de clínqueres Pórtland belíticos, con contenidos del 60 y del 65% en peso de belita (Ca2SiO4), situadas en su campo primario de cristalización. La síntesis de estos clínqueres belíticos se ha estudiado “in situ” por microscopía de alta temperatura, dilatometría y análisis térmico diferencial y termogravimétrico. La temperatura óptima de clinquerización, determinada con estas técnicas, ha sido de 1360 ± 5ºC. Los análisis cuantitativos de los clínqueres se llevaron a cabo por difracción de rayos-X con la metodología Rietveld. Los porcentajes de las diferentes fases dependen de las dosificaciones iniciales, de la temperatura alcanzada y del tiempo de residencia a dicha temperatura. Se ha conseguido una reacción total (%CaO libre < 0.5% en peso) tratando a 1365ºC durante 15 min, en cuyas condiciones se estabiliza la forma β de la belita y se evita la transformación perjudicial β→γ.Peer reviewe

Implementierung hochauflösender molekulargenetischer Methoden zur Klärung der Pathophysiologie des Silver-Russell-Syndroms

Silver Russell syndrome (SRS; OMIM #180860) is a clinically and genetically heterogeneous imprinting disorder characterized by severe pre- and postnatal growth retardation, a relative macrocephaly, a triangular face, asymmetry of the body and/or the limbs, and a clinodactyly of the fifth digits. A molecular genetic confirmation of the clinical diagnosis is currently feasible in approximately half of the patients: While in 7-10% of patients a maternal uniparental disomy of chromosome 7 (upd(7)mat) is detectable, in ca. 40% of patients a hypomethylation of the ICR1 in 11p15 can be observed. The aim of this study was to contribute to the understanding of the pathophysiology of the SRS by implementation of high resolution molecular genetic techniques. For this purpose analyses of genomic mutations, methylation-specific tests as well as microarray analyses were performed in a study cohort of 42 patients with clinical diagnosis of SRS but unknown etiology (“idiopathic SRS”) and 31 SRS patients with ICR1-hypomethylation. Additionally, two single patients from SRS routine diagnostics carrying (epi)mutations on chromosome 7 were analysed. Due to reports in the literature indicating a pathogenic relevance for the SRS (Mackay et al., 2008; Shiura et al., 2009; Lynch et al., 2011) the genes ZFP57 and HMGA2 as well as the GRB10-CPGI2 were screened for genomic mutations. However, in the patients analysed in this study no pathogenic variants were detectable (Spengler et al., 2009; 2010). Thus a relevant causal relationship between mutations in these factors and SRS is unlikely. The identification of (epi)mutations at imprinted loci in approximately 50% of SRS patients leads to the assumption that at least some of the idiopathic patients also carry epimutations which are not detectable with the currently applied analysis methods. Therefore, on the one hand methylation analyses in a tissue not routinely tested so far were performed in this study. Furthermore, new methods for the detection of epimutations in the SRS patients were developed and established. For the identification of tissue-specific mosaicism buccal smear DNA of SRS patients with epimutation and idiopathic SRS patients was analysed in addition to the routinely tested lymphocyte DNA. The results in lymphocyte DNA of both patient subgroups could be confirmed in buccal smear DNA (Spengler et al., 2011). Therefore it can be assumed that the epimutation always affects both tissues. For the detection of upd(7)mat as well as isolated methylation defects a methylation-specific (MS)-PCR for the MEST locus in 7q32 was used in the past. In this study an additional MS-PCR for the identification of segmental uniparental disomies as well as epimutations at the GRB10 locus in 7p12 was established. An isolated hypermethylation was identified in one out of 31 patients; therefore it can be assumed that this type of epimutation is a rare finding in SRS. Due to the observation of multilocus methylation defects (MLMD) in patients with various imprinting disorders a MS-SNuPE (methylation-specific single nucleotide primer extension) assay was established for the detection of MLMD in SRS patients. In the future, this assay will allow the parallel analysis and quantification of methylation at the eight loci most commonly affected in MLMD in one approach. Furthermore the detection of low-level epimutation mosaicism, which escapes the currently used, less sensitive methods, is possible with this technique. To obtain evidence for new SRS candidate regions genome-wide analyses with DNA microarrays were performed. In first screening studies submicroscopic (< 3 Mb) imbalances had been identified in several patients with typical SRS phenotype (Bruce et al., 2010; Spengler et al., 2010). For the systematic detection of such imbalances in our own SRS cohort high resolution arrays as well as the necessary analysis software were implemented. Using the Affymetrix SNP6.0 array the 31 patients with ICR1-hypomethylation as well as the 42 idiopathic patients were analyzed. While in the group of the epimutation carriers no obviously clinically relevant aberration could be found, pathogenic submicroscopic imbalances were detected in a considerable proportion of idiopathic SRS patients (21.4%). In further 11.9% of patients copy number alterations with so far unknown clinical significance were identified. In summary, performing array analyses for the detection of submicroscopic imbalances is indicated in routine diagnostics after exclusion of the known (epi)mutations of chromosomes 7 and 11 in SRS- and SRS-like patients

Implementierung hochauflösender molekulargenetischer Methoden zur Klärung der Pathophysiologie des Silver-Russell-Syndroms

Silver Russell syndrome (SRS; OMIM #180860) is a clinically and genetically heterogeneous imprinting disorder characterized by severe pre- and postnatal growth retardation, a relative macrocephaly, a triangular face, asymmetry of the body and/or the limbs, and a clinodactyly of the fifth digits. A molecular genetic confirmation of the clinical diagnosis is currently feasible in approximately half of the patients: While in 7-10% of patients a maternal uniparental disomy of chromosome 7 (upd(7)mat) is detectable, in ca. 40% of patients a hypomethylation of the ICR1 in 11p15 can be observed. The aim of this study was to contribute to the understanding of the pathophysiology of the SRS by implementation of high resolution molecular genetic techniques. For this purpose analyses of genomic mutations, methylation-specific tests as well as microarray analyses were performed in a study cohort of 42 patients with clinical diagnosis of SRS but unknown etiology (“idiopathic SRS”) and 31 SRS patients with ICR1-hypomethylation. Additionally, two single patients from SRS routine diagnostics carrying (epi)mutations on chromosome 7 were analysed. Due to reports in the literature indicating a pathogenic relevance for the SRS (Mackay et al., 2008; Shiura et al., 2009; Lynch et al., 2011) the genes ZFP57 and HMGA2 as well as the GRB10-CPGI2 were screened for genomic mutations. However, in the patients analysed in this study no pathogenic variants were detectable (Spengler et al., 2009; 2010). Thus a relevant causal relationship between mutations in these factors and SRS is unlikely. The identification of (epi)mutations at imprinted loci in approximately 50% of SRS patients leads to the assumption that at least some of the idiopathic patients also carry epimutations which are not detectable with the currently applied analysis methods. Therefore, on the one hand methylation analyses in a tissue not routinely tested so far were performed in this study. Furthermore, new methods for the detection of epimutations in the SRS patients were developed and established. For the identification of tissue-specific mosaicism buccal smear DNA of SRS patients with epimutation and idiopathic SRS patients was analysed in addition to the routinely tested lymphocyte DNA. The results in lymphocyte DNA of both patient subgroups could be confirmed in buccal smear DNA (Spengler et al., 2011). Therefore it can be assumed that the epimutation always affects both tissues. For the detection of upd(7)mat as well as isolated methylation defects a methylation-specific (MS)-PCR for the MEST locus in 7q32 was used in the past. In this study an additional MS-PCR for the identification of segmental uniparental disomies as well as epimutations at the GRB10 locus in 7p12 was established. An isolated hypermethylation was identified in one out of 31 patients; therefore it can be assumed that this type of epimutation is a rare finding in SRS. Due to the observation of multilocus methylation defects (MLMD) in patients with various imprinting disorders a MS-SNuPE (methylation-specific single nucleotide primer extension) assay was established for the detection of MLMD in SRS patients. In the future, this assay will allow the parallel analysis and quantification of methylation at the eight loci most commonly affected in MLMD in one approach. Furthermore the detection of low-level epimutation mosaicism, which escapes the currently used, less sensitive methods, is possible with this technique. To obtain evidence for new SRS candidate regions genome-wide analyses with DNA microarrays were performed. In first screening studies submicroscopic (< 3 Mb) imbalances had been identified in several patients with typical SRS phenotype (Bruce et al., 2010; Spengler et al., 2010). For the systematic detection of such imbalances in our own SRS cohort high resolution arrays as well as the necessary analysis software were implemented. Using the Affymetrix SNP6.0 array the 31 patients with ICR1-hypomethylation as well as the 42 idiopathic patients were analyzed. While in the group of the epimutation carriers no obviously clinically relevant aberration could be found, pathogenic submicroscopic imbalances were detected in a considerable proportion of idiopathic SRS patients (21.4%). In further 11.9% of patients copy number alterations with so far unknown clinical significance were identified. In summary, performing array analyses for the detection of submicroscopic imbalances is indicated in routine diagnostics after exclusion of the known (epi)mutations of chromosomes 7 and 11 in SRS- and SRS-like patients