Impact of the type of anodic film formed and deposition time on the characteristics of porous anodic aluminium oxide films containing Ni metal

Porous anodic films containing nickel were prepared by AC electro-deposition. The porosity of the films was controlled by using different working conditions (anodisation electrolyte, voltage, and time). Then nickel was electro-deposited using an alternating voltage. The impact of the anodic film on the current density waveforms and the metal content can largely be explained by the porosity differences, while changing the deposition time caused changes due to over-oxidation of the aluminium substrate, experimentally proved by TEM. Finally, the impact of deposition time on the deposited metal was successfully fitted using an Elovich type law over a large time-span (up to 1800 s), showing the ability to achieve precise control of the metal content

Electrical behaviour, characteristics and properties of anodic aluminium oxide films coloured by nickel electrodeposition

Porous anodic films on 1050 aluminium substrate were coloured by AC electrodeposition of nickel. Several experiments were performed at different deposition voltages and nickel concentrations in the electrolyte in order to correlate the applied electrical power to the electrical behaviour, as well as the characteristics and properties of the coatings. The content of nickel inside the coatings reached 1.67 g/m2, depending on the experimental conditions. According to the applied AC voltage in comparison with the threshold voltage Ut, the coating either acted only as a capacitor when U\Ut and, when U[Ut, the behaviour during the anodic and cathodic parts of the power sine wave was different. In particular, due to the semi-conducting characteristics of the barrier layer, additional oxidation of the aluminium substrate occurred during the anodic part of the electrical signal, whilst metal deposition (and solvent reduction) occurred during the cathodic part; these mechanisms correspond to the blocked and pass directions of the barrier layer/electrolyte junction, respectively

Single-Cell Multiomics Analysis of Myelodysplastic Syndromes and Clinical Response to Hypomethylating Therapy

Altres ajuts: Cellex Foundation, CEL007; Asociación Española Contra el Cáncer, AC18/000002Alterations in epigenetic marks, such as DNA methylation, represent a hallmark of cancer that has been successfully exploited for therapy in myeloid malignancies. Hypomethylating agents (HMAs), such as azacitidine (AZA), have become standard-of-care therapy to treat myelodysplastic syndromes (MDS), myeloid neoplasms that can evolve into acute myeloid leukemia (AML). However, our capacity to identify who will respond to HMAs, and the duration of response, remains limited. To shed light on this question, we have leveraged the unprecedented analytical power of single-cell technologies to simultaneously map the genome and immunoproteome of MDS samples throughout clinical evolution. We were able to chart the architecture and evolution of molecular clones in precious paired bone marrow MDS samples at diagnosis and post-treatment to show that a combined imbalance of specific cell lineages with diverse mutational profiles is associated with the clinical response of MDS patients to hypomethylating therapy

Enhancing international Eel Governance and Assessment: Insights from the SUDOANG Project

International audienceThe European eel is critically endangered and outside safe biological limits. In 2007, the European Commission implemented a Regulation requiring Member States to establish Eel Management Plans. However, despite these efforts, the eel population has not shown signs of recovery. We initiated the SUDOANG Interreg project to provide managers in Spain, France, and Portugal (SUDOE area) with common toolkits to enhance eel conservation.Eel management involves multiple levels of governance, spanning regional, national, and international authorities. This can sometimes lead to inconsistencies in the measures adopted for eel management. To overcome these inconsistencies and foster dialogue among stakeholders, we proposed the objectives, structure and composition of a governance platform: GOVERNANG.Despite being a single fish stock, the European eel is assessed as separate units by each country, using different methodologies. This approach, combined with data and knowledge gaps, and variability in data collection formats, hinders the effectiveness of international eel population assessments. To overcome these challenges, we have established an eel sampling network across 10 basins in Spain, France, and Portugal, encompassing Atlantic and Mediterranean rivers, as well as a Mediterranean lagoon. Additionally, we have developed and implemented common models to estimate recruitment, eel abundance in inland waters , and escapement across the SUDOE area. We have also evaluated the impact of hydropower plants on eel mortality in selected basins. To facilitate information access, we have created the VISUANG online tool, which provides a platform for visualizing both physical and biological data related to eels.During the presentation we will discuss the challenges we faced in SUDOANG and emphasize the advantages of international and multi-stakeholder collaboration and knowledge exchange for diadromous species. By sharing our experiences and findings, we aim to contribute to the ongoing discourse on effective governance and assessment strategies for these species

Enhancing international Eel Governance and Assessment: Insights from the SUDOANG Project

International audienceThe European eel is critically endangered and outside safe biological limits. In 2007, the European Commission implemented a Regulation requiring Member States to establish Eel Management Plans. However, despite these efforts, the eel population has not shown signs of recovery. We initiated the SUDOANG Interreg project to provide managers in Spain, France, and Portugal (SUDOE area) with common toolkits to enhance eel conservation.Eel management involves multiple levels of governance, spanning regional, national, and international authorities. This can sometimes lead to inconsistencies in the measures adopted for eel management. To overcome these inconsistencies and foster dialogue among stakeholders, we proposed the objectives, structure and composition of a governance platform: GOVERNANG.Despite being a single fish stock, the European eel is assessed as separate units by each country, using different methodologies. This approach, combined with data and knowledge gaps, and variability in data collection formats, hinders the effectiveness of international eel population assessments. To overcome these challenges, we have established an eel sampling network across 10 basins in Spain, France, and Portugal, encompassing Atlantic and Mediterranean rivers, as well as a Mediterranean lagoon. Additionally, we have developed and implemented common models to estimate recruitment, eel abundance in inland waters , and escapement across the SUDOE area. We have also evaluated the impact of hydropower plants on eel mortality in selected basins. To facilitate information access, we have created the VISUANG online tool, which provides a platform for visualizing both physical and biological data related to eels.During the presentation we will discuss the challenges we faced in SUDOANG and emphasize the advantages of international and multi-stakeholder collaboration and knowledge exchange for diadromous species. By sharing our experiences and findings, we aim to contribute to the ongoing discourse on effective governance and assessment strategies for these species

Evaluating Silver Eel Escapement at a Large Scale Using Eel Density Analysis (EDA)

International audienceThe European eel population has declined over the last 50 years and is outside safe biological limits. In 2007, the European Commission enforced a regulation to ensure that all Member States implement Management Plans to achieve an escapement rate of 40% for silver eels. However, escapement is assessed using diverse methods, and therefore, estimates of different countries are not comparable. Thus, European scientists and managers face the challenge of finding a method that could be applied all along the European eel distribution range using widely available data. During the SUDOANG project, the Eel Density Analysis model (EDA) was used to estimate the silver eel escapement in Spain, France, and Portugal. EDA can estimate silver eel escapement at different scales (basin, EMU, country, international) using data from routine electrofishing surveys, such as those collected for the Water Framework Directive (WFD). EDA is based on open-source software and is widely applicable to European rivers. A chained river network in the three countries was built, including the hydrological attributes, the location, and the characteristics of 10,574 obstacles. A total of 46,118 electrofishing operations from 1985 to 2019 were also compiled and projected to the hydrographic network. Finally, EDA was implemented through the sub-models on eel presence–absence, density, size structure, and silvering. EDA estimated a total fluvial population of 12.3, 11.7, and 5.8 million silver eels for 2015 in France, Spain, and Portugal, respectively. Eel presence and abundance decreased as the altitude and the distance to the sea increased. Finally, by setting the cumulated height of dams to zero, EDA provided an estimate of the effect of habitat loss due to dams on the eel population. These results correspond to the first assessment of silver eels carried out simultaneously and with the same methodologies in three European countries

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

International audiencePathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,521). Despite enrichment in de novo mutations in several developmental disorders and autism studies, the data on clinical characteristics and genotype-phenotype correlations are scarce, with only 22 patients with single nucleotide pathogenic variants reported. We aimed to further characterize this disorder at both the clinical and molecular levels by gathering a large series of patients with MYT1L-associated neurodevelopmental disorder. We collected genetic information on 40 unreported patients with likely pathogenic/pathogenic MYT1L variants and performed a comprehensive review of published data (total = 62 patients). We confirm that the main phenotypic features of the MYT1L-related disorder are developmental delay with language delay (95%), intellectual disability (ID, 70%), overweight or obesity (58%), behavioral disorders (98%) and epilepsy (23%). We highlight novel clinical characteristics, such as learning disabilities without ID (30%) and feeding difficulties during infancy (18%). We further describe the varied dysmorphic features (67%) and present the changes in weight over time of 27 patients. We show that patients harboring highly clustered missense variants in the 2-3-ZNF domains are not clinically distinguishable from patients with truncating variants. We provide an updated overview of clinical and genetic data of the MYT1L-associated neurodevelopmental disorder, hence improving diagnosis and clinical management of these patients

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

International audiencePathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,521). Despite enrichment in de novo mutations in several developmental disorders and autism studies, the data on clinical characteristics and genotype-phenotype correlations are scarce, with only 22 patients with single nucleotide pathogenic variants reported. We aimed to further characterize this disorder at both the clinical and molecular levels by gathering a large series of patients with MYT1L-associated neurodevelopmental disorder. We collected genetic information on 40 unreported patients with likely pathogenic/pathogenic MYT1L variants and performed a comprehensive review of published data (total = 62 patients). We confirm that the main phenotypic features of the MYT1L-related disorder are developmental delay with language delay (95%), intellectual disability (ID, 70%), overweight or obesity (58%), behavioral disorders (98%) and epilepsy (23%). We highlight novel clinical characteristics, such as learning disabilities without ID (30%) and feeding difficulties during infancy (18%). We further describe the varied dysmorphic features (67%) and present the changes in weight over time of 27 patients. We show that patients harboring highly clustered missense variants in the 2-3-ZNF domains are not clinically distinguishable from patients with truncating variants. We provide an updated overview of clinical and genetic data of the MYT1L-associated neurodevelopmental disorder, hence improving diagnosis and clinical management of these patients

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

International audiencePathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,521). Despite enrichment in de novo mutations in several developmental disorders and autism studies, the data on clinical characteristics and genotype-phenotype correlations are scarce, with only 22 patients with single nucleotide pathogenic variants reported. We aimed to further characterize this disorder at both the clinical and molecular levels by gathering a large series of patients with MYT1L-associated neurodevelopmental disorder. We collected genetic information on 40 unreported patients with likely pathogenic/pathogenic MYT1L variants and performed a comprehensive review of published data (total = 62 patients). We confirm that the main phenotypic features of the MYT1L-related disorder are developmental delay with language delay (95%), intellectual disability (ID, 70%), overweight or obesity (58%), behavioral disorders (98%) and epilepsy (23%). We highlight novel clinical characteristics, such as learning disabilities without ID (30%) and feeding difficulties during infancy (18%). We further describe the varied dysmorphic features (67%) and present the changes in weight over time of 27 patients. We show that patients harboring highly clustered missense variants in the 2-3-ZNF domains are not clinically distinguishable from patients with truncating variants. We provide an updated overview of clinical and genetic data of the MYT1L-associated neurodevelopmental disorder, hence improving diagnosis and clinical management of these patients

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

International audiencePathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,521). Despite enrichment in de novo mutations in several developmental disorders and autism studies, the data on clinical characteristics and genotype-phenotype correlations are scarce, with only 22 patients with single nucleotide pathogenic variants reported. We aimed to further characterize this disorder at both the clinical and molecular levels by gathering a large series of patients with MYT1L-associated neurodevelopmental disorder. We collected genetic information on 40 unreported patients with likely pathogenic/pathogenic MYT1L variants and performed a comprehensive review of published data (total = 62 patients). We confirm that the main phenotypic features of the MYT1L-related disorder are developmental delay with language delay (95%), intellectual disability (ID, 70%), overweight or obesity (58%), behavioral disorders (98%) and epilepsy (23%). We highlight novel clinical characteristics, such as learning disabilities without ID (30%) and feeding difficulties during infancy (18%). We further describe the varied dysmorphic features (67%) and present the changes in weight over time of 27 patients. We show that patients harboring highly clustered missense variants in the 2-3-ZNF domains are not clinically distinguishable from patients with truncating variants. We provide an updated overview of clinical and genetic data of the MYT1L-associated neurodevelopmental disorder, hence improving diagnosis and clinical management of these patients