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

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome

Marinesco-Sjögren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene, which encodes an endoplasmic reticulum resident co-chaperone, were identified as the main cause of Marinesco-Sjögren syndrome. Here we describe the results of SIL1 mutation analysis in 62 patients presenting with early-onset ataxia, cataracts and myopathy or combinations of at least two of these. We obtained a mutation detection rate of 60% (15/25) among patients with the characteristic Marinesco-Sjögren syndrome triad (ataxia, cataracts, myopathy) whereas the detection rate in the group of patients with more variable phenotypic presentation was below 3% (1/37). We report 16 unrelated families with a total of 19 different SIL1 mutations. Among these mutations are 15 previously unreported changes, including single- and multi-exon deletions. Based on data from our screening cohort and data compiled from the literature we found that SIL1 mutations are invariably associated with the combination of a cerebellar syndrome and chronic myopathy. Cataracts were observed in all patients beyond the age of 7 years, but might be missing in infants. Six patients with SIL1 mutations had no intellectual disability, extending the known wide range of cognitive capabilities in Marinesco-Sjögren syndrome to include normal intelligence. Modestly constant features were somatic growth retardation, skeletal abnormalities and pyramidal tract signs. Examination of mutant SIL1 expression in cultured patient lymphoblasts suggested that SIL1 mutations result in severely reduced SIL1 protein levels irrespective of the type and position of mutations. Our data broaden the SIL1 mutation spectrum and confirm that SIL1 is the major Marinesco-Sjögren syndrome gene. SIL1 patients usually present with the characteristic triad but cataracts might be missing in young children. As cognitive impairment is not obligatory, patients without intellectual disability but a Marinesco-Sjögren syndrome-compatible phenotype should receive SIL1 mutation analysis. Despite allelic heterogeneity and many families with private mutations, the phenotype related to SIL1 mutations is relatively homogenous. Based on SIL1 expression studies we speculate that this may arise from a uniform effect of different mutations on protein expressio

Annual (2023) taxonomic update of RNA-directed RNA polymerase-encoding negative-sense RNA viruses (realm Riboviria: kingdom Orthornavirae: phylum Negarnaviricota)

55 Pág.In April 2023, following the annual International Committee on Taxonomy of Viruses (ICTV) ratification vote on newly proposed taxa, the phylum Negarnaviricota was amended and emended. The phylum was expanded by one new family, 14 new genera, and 140 new species. Two genera and 538 species were renamed. One species was moved, and four were abolished. This article presents the updated taxonomy of Negarnaviricota as now accepted by the ICTV.This work was supported in part through the Laulima Government Solutions, LLC, prime contract with the U.S. National Institute of Allergy and Infec tious Diseases (NIAID) under Contract No. HHSN272201800013C. J.H.K. performed this work as an employee of Tunnell Government Services (TGS), a subcontractor of Laulima Government Solutions, LLC, under Contract No. HHSN272201800013C. U.J.B. was supported by the Division of Intramural Resarch, NIAID. This work was also funded in part by Contract No. HSHQDC15-C-00064 awarded by DHS S and T for the management and operation of The National Biodefense Analysis and Countermeasures Centre, a federally funded research and development centre operated by the Battelle National Biodefense Institute (V.W.); and NIH contract HHSN272201000040I/HHSN27200004/D04 and grant R24AI120942 (N.V., R.B.T.). S.S. acknowl edges support from the Mississippi Agricultural and Forestry Experiment Station (MAFES), USDA-ARS project 58-6066-9-033 and the National Institute of Food and Agriculture, U.S. Department of Agriculture, Hatch Project, under Accession Number 1021494. The funders had no role in the design of the study; in the collection, analysis, or interpretation of data; in the writing of the manuscript; or in the decision to publish the results. The views and conclusions contained in this document are those of the authors and should not be interpreted as necessarily representing the official policies, either expressed or implied, of the U.S. Department of the Army, the U.S. Department of Defence, the U.S. Department of Health and Human Services, including the Centres for Disease Control and Prevention, the U.S. Department of Homeland Security (DHS) Science and Technology Directorate (S and T), or of the institutions and companies affiliated with the authors. In no event shall any of these entities have any responsibility or liability for any use, misuse, inability to use, or reliance upon the information contained herein. The U.S. departments do not endorse any products or commercial services mentioned in this publication. The U.S. Government retains and the publisher, by accepting the article for publication, acknowledges that the U.S.Government retains a non-exclusive, paid up, irrevocable, world-wide license to publish or reproduce the published form of this manuscript, or allow others to do so, for U.S. Government purposes.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