Thin Films for Immobilization of Complexes with Optical Properties

Thin film deposition techniques, such as dip coating, spin coating, and spray pyrolysis, are applied for the production of SiO2-, poly-(methylmethacrylate) (PMMA)-, and SiO2-/polyester-based “hybrid” matrices. The factors influencing the film properties are briefly discussed. The morphology of the films presented is studied by different microscopy techniques such as atomic force microscopy, electron (scanning and transmission) microscopy, and fluorescence microscopy. The composites based on SiO2-, PMMA-, and SiO2/polyster “hybrid” matrices possess the optical properties of the immobilized complexes of Ru(II) and Eu(III) with different organic ligands. The preparation of the PMMA matrix by the monomer methylmethacrylate polymerization (instead of using of PMMA solution) caused partial destruction of the less stable complexes and thereby a decrease in the fluorescence intensity

Photocatalytic UV-Induced Approach for Discoloration of Bromocresol Purple, Bromothymol Blue Dyes and Their Mixture Using Nix Fe3−xO4/Fe2O3/AC Composites

The nickel ferrite-activated carbon samples NiFe2O4/Activated carbon and NixFe3−xO4/Fe2O3/AC, x = 0.25; 0.5 obtained by co-precipitation followed by thermal treatment in inert atmosphere, were studied for discoloration of Bromocresol Purple (BCP), Bromothymol Blue (BTB) dyes and their mixture as model contaminants under UV-A light. The prepared materials were investigated by XPS, PXRD and XRF analysis, FT-IR spectroscopy, SEM, EDX, BET method and TG analysis. The photocatalyst with composition NixFe3−xO4-AC, x = 1 has demonstrated the highest photocatalytic activity towards discoloration of the BTB in comparison with the others tested materials NixFe3−xO4/Fe2O3/AC, x = 0.25; 0.5. These results can be explained with the smaller particle sizes, the mesoporous structure, the higher degree of crystallinity and higher content of hydroxyl groups. This study proved that the obtained nickel ferrite-activated carbon materials are suitable as photocatalysts for discoloration of the BTB dye. They have demonstrated also relatively high adsorption ability towards BCP dye

Rare genetic variation at Zea mays crtRB1 increases β-carotene in maize grain

Breeding to increase β-carotene levels in cereal grains, termed provitamin A biofortification, is an economical approach to address dietary vitamin A deficiency in the developing world. Experimental evidence from association and linkage populations in maize (Zea maysL.) demonstrate that the gene encoding β-carotene hydroxylase 1 (crtRB1) underlies a principal quantitative trait locus associated with β-carotene concentration and conversion in maize kernels. crtRB1 alleles associated with reduced transcript expression correlate with higher β-carotene concentrations. Genetic variation at crtRB1 also affects hydroxylation efficiency among encoded allozymes, as observed by resultant carotenoid profiles in recombinant expression assays. The most favorable crtRB1 alleles, rare in frequency and unique to temperate germplasm, are being introgressed via inexpensive PCR marker-assisted selection into tropical maize germplasm adapted to developing countries, where it is most needed for human health

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.

For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites from 15 countries. Solve-RD is built upon a core group of four European Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually see more than 270,000 RD patients with respective pathologies. The main ambition is to solve unsolved rare diseases for which a molecular cause is not yet known. This is achieved through an innovative clinical research environment that introduces novel ways to organise expertise and data. Two major approaches are being pursued (i) massive data re-analysis of >19,000 unsolved rare disease patients and (ii) novel combined -omics approaches. The minimum requirement to be eligible for the analysis activities is an inconclusive exome that can be shared with controlled access. The first preliminary data re-analysis has already diagnosed 255 cases form 8393 exomes/genome datasets. This unprecedented degree of collaboration focused on sharing of data and expertise shall identify many new disease genes and enable diagnosis of many so far undiagnosed patients from all over Europe

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques. Results We compared three different widely used enrichment kits (Agilent SureSelect Human All Exon V5, Agilent SureSelect Human All Exon V7 and Twist Bioscience) as well as short-read and long-read WGS. We show that the Twist exome capture significantly improves complete coverage and coverage uniformity across coding regions compared to other exome capture kits. Twist performance is comparable to that of both short- and long-read whole genome sequencing. Additionally, we show that even at a reduced average coverage of 70× there is only minimal loss in sensitivity for SNV and CNV detection. Conclusion We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome capture techniques

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.

Funder: EC | EC Seventh Framework Programm | FP7 Health (FP7-HEALTH - Specific Programme "Cooperation": Health); doi: https://doi.org/10.13039/100011272; Grant(s): 305444, 305444Funder: Ministerio de Economía y Competitividad (Ministry of Economy and Competitiveness); doi: https://doi.org/10.13039/501100003329Funder: Generalitat de Catalunya (Government of Catalonia); doi: https://doi.org/10.13039/501100002809Funder: EC | European Regional Development Fund (Europski Fond za Regionalni Razvoj); doi: https://doi.org/10.13039/501100008530Funder: Instituto Nacional de Bioinformática ELIXIR Implementation Studies Centro de Excelencia Severo OchoaFunder: EC | EC Seventh Framework Programm | FP7 Health (FP7-HEALTH - Specific Programme "Cooperation": Health)Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and clinical environments. The Solve-RD project aims to reveal the molecular causes underlying undiagnosed rare diseases. One of the goals is to implement innovative approaches to reanalyse the exomes and genomes from thousands of well-studied undiagnosed cases. The raw genomic data is submitted to Solve-RD through the RD-Connect Genome-Phenome Analysis Platform (GPAP) together with standardised phenotypic and pedigree data. We have developed a programmatic workflow to reanalyse genome-phenome data. It uses the RD-Connect GPAP's Application Programming Interface (API) and relies on the big-data technologies upon which the system is built. We have applied the workflow to prioritise rare known pathogenic variants from 4411 undiagnosed cases. The queries returned an average of 1.45 variants per case, which first were evaluated in bulk by a panel of disease experts and afterwards specifically by the submitter of each case. A total of 120 index cases (21.2% of prioritised cases, 2.7% of all exome/genome-negative samples) have already been solved, with others being under investigation. The implementation of solutions as the one described here provide the technical framework to enable periodic case-level data re-evaluation in clinical settings, as recommended by the American College of Medical Genetics

Solving unsolved rare neurological diseases-a Solve-RD viewpoint.

Funder: Durch Princess Beatrix Muscle Fund Durch Speeren voor Spieren Muscle FundFunder: University of Tübingen Medical Faculty PATE programFunder: European Reference Network for Rare Neurological Diseases | 739510Funder: European Joint Program on Rare Diseases (EJP-RD COFUND-EJP) | 44140962

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

Förväntningsgapet : Ett verkligt problem?

Revision är en viktig del för att samhället och näringslivet ska fungera på ett tillfredställande sätt. Under flera år har avskaffandet av revisionsplikten varit ett omtalat och diskuterat ämne. Förväntningsgapet är ett annat ämne som diskuterats och engagerat människor inom revisionen. Förväntningsgapet uppstår när företagens och dess intressenters förväntningar på revisorerna inte överensstämmer med revisorernas arbete. Detta är ett problem som uppmärksammats under de senaste åren då det uppdagats flera olika företagsskandaler. Syftet med uppsatsen är att skapa en större förståelse för revisorernas arbete och vad som menas med begreppet förväntningsgap. Författarna har för avsikt att undersöka om det existerar ett förväntningsgap, hur detta i det aktuella fallet yttrar sig och vad som då skulle kunna minska gapet. För att kunna göra detta har författarna använt sig av en kvalitativ ansats och genomfört fyra intervjuer med olika företag samt tre intervjuer med revisionsbyråer. Förväntningsgapet framställs ofta i teorin som något problematiskt, men efter genomförd materialinsamling och analys har uppsatsens författare kommit till den slutsatsen att det gapet inte är så problematiskt, förrän det händer något kritiskt. Inte någon av de intervjuade företagsrespondenterna upplever att det finns något förväntningsgap mellan dem och dess revisorer. Revisionsbyråernas respondenter anser dock att det finns ett förväntningsgap, men att det inte är något besvärande problem.Auditing is an important part of the functioning of the society and the business community. For several years the abolished statutory auditing has been a discussed topic. Expectation gap is another topic that has been discussed. The expectations gap arises when the business and its stakeholders' expectations of the auditor’s performance don't comply with the auditor's actual implementation of the audit. This is a problem that attracted attention in recent years when several corporate scandals occurred. The purpose of this paper is to create a greater understanding of the work and what is meant by the term expectation gap. The authors intend to examine if there exists an expectation gap, how that in that case manifests itself and what circumstances could reduce the gap. To do this, the authors used a quantitative approach and conducted four interviews with different companies and three interviews with accounting firms. Expectation gap is often defined in the theory as something problematic, but after the collection of empirical material and the analysis the authors come to the conclusion that the gap is not that problematic, until something critically happens. None of the interviewed companies’ respondents feel that there is an expectation gap between them and their auditors. Accounting firms’ respondents, however, believe that there is an expectation gap, but that it´s not a troublesome problem

Variation of morphological traits among wheat (Triticum aestivum L.) landraces from two regions of the Algerian Sahara. Potential interest for wheat breeding

International audienceIn the Saharan regions of Algeria wheat is cultivated by farmers in small areas of the oases. Saharan wheat landraces that are the result of natural and human selection in hostile environments for several centuries could represent an interesting material to improve abiotic stress tolerance in breeding programs. Indeed, a high level of drought, heat and salt tolerance has been reported in this germplasm. Very little information is however available on the morphological characteristics of these landraces. In the present study, a total of 58 bread wheat landraces originating from ten oases of the Adrar and Tamanrasset regions were characterised, together with two commercial varieties, for 21 quantitative traits related to plant, spike, grain, glume and lemma. A wide morphological variation was noted among landraces, as well as differences related to their environments of origin. Altitude was a determining factor of variation, landraces originating from low altitude exhibiting shorter stems and less fertile tillers and producing more grain, compared to landraces originating from high altitude. The landraces of Adrar with very dense spike of normal type were opposed to the varieties with spikes of speltoid type originating from Tamanrasset. High heritability was recorded for thousand grain weight, number of grains per spike, number of fertile tillers per plant, spike length and spike width, suggesting the possibility of using these traits in wheat breeding programs