Extraction and physicochemical characterization of chitin from Cicadaorni sloughs of the south-eastern French Mediterranean basin

Chitin is a structural polysaccharide of the cell walls of fungi and exoskeletons of insects and crustaceans. In this study, chitin was extracted, for the first time in our knowledge, from the Cicada orni sloughs of the south-eastern French Mediterranean basin by treatment with 1 M HCl for demineralization, 1 M NaOH for deproteinization, and 1% NaClO for decolorization. The different steps of extraction were investigated by Fourier Transform Infrared Spectroscopy (FTIR), X-ray Diffraction (XRD), Thermogravimetric Analysis (TGA), and Scanning Electron Microscopy (SEM). Results demonstrated that the extraction process was efficiently performed and that Cicada orni sloughs of the south-eastern French Mediterranean basin have a high content of chitin (42.8%) in the α-form with a high degree of acetylation of 96% ± 3.4%. These results make Cicada orni of the south-eastern French Mediterranean basin a new and promising source of chitin. Furthermore, we showed that each step of the extraction present specific characteristics (for example FTIR and XRD spectra and, consequently, distinct absorbance peaks and values of crystallinity as well as defined values of maximum degradation temperatures identifiable by TGA analysis) that could be used to verify the effectiveness of the treatments, and could be favorably compared with other natural chitin sources.publishe

Deciphering the Molecular Basis of Wine Yeast Fermentation Traits Using a Combined Genetic and Genomic Approach

The genetic basis of the phenotypic diversity of yeast is still poorly understood. Wine yeast strains have specific abilities to grow and ferment under stressful conditions compared with other strains, but the genetic basis underlying these traits is unknown. Understanding how sequence variation influences such phenotypes is a major challenge to address adaptation mechanisms of wine yeast. We aimed to identify the genetic basis of fermentation traits and gain insight into their relationships with variations in gene expression among yeast strains. We combined fermentation trait QTL mapping and expression profiling of fermenting cells in a segregating population from a cross between a wine yeast derivative and a laboratory strain. We report the identification of QTL for various fermentation traits (fermentation rates, nitrogen utilization, metabolites production) as well as expression QTL (eQTL). We found that many transcripts mapped to several eQTL hotspots and that two of them overlapped with QTL for fermentation traits. A QTL controlling the maximal fermentation rate and nitrogen utilization overlapping with an eQTL hotspot was dissected. We functionally demonstrated that an allele of the ABZ1 gene, localized in the hotspot and involved in p-aminobenzoate biosynthesis, controls the fermentation rate through modulation of nitrogen utilization. Our data suggest that the laboratory strain harbors a defective ABZ1 allele, which triggers strong metabolic and physiological alterations responsible for the generation of the eQTL hotspot. They also suggest that a number of gene expression differences result from some alleles that trigger major physiological disturbances

The Others in Europe

This edited volume addresses the construction of identity classifications underlying the new forms of inclusion and exclusion that are to be found in contemporary Europe. Its scope covers practices of categorization and of resistance, both by majority groups

A predictive classifier of poor prognosis in transplanted patients with juvenile myelomonocytic leukemia: a study on behalf of the Société Francophone de Greffe de Moelle et de Thérapie Cellulaire

Juvenile myelomonocytic leukemia (JMML) is an aggressive pediatric myeloproliferative neoplasm requiring hematopoietic stem cell transplantation (HSCT) in most cases. We retrospectively analyzed 119 JMML patients who underwent first allogeneic HSCT between 2002 and 2021. The majority (97%) carried a RAS-pathway mutation, and 62% exhibited karyotypic alterations or additional mutations in SETBP1, ASXL1, JAK3 and/or the RAS pathway. Relapse was the primary cause of death, with a 5-year cumulative incidence of 24.6% (95%CI: 17.1-32.9). Toxic deaths occurred in 12 patients, resulting in treatmentrelated mortality (TRM) of 9.0% (95%CI: 4.6-15.3). The 5-year overall (OS) and event-free survival were 73.6% (95%CI: 65.7-82.4) and 66.4% (95%CI: 58.2-75.8), respectively. Four independent adverse prognostic factors for OS were identified: age at diagnosis >2 years, time from diagnosis to HSCT >6 months, monocyte count at diagnosis >7.2x109/L, and the presence of additional genetic alterations. Based on these factors, we proposed a predictive classifier. Patients with three or more predictors (21% of the cohort) had a 5-year OS of 34.2%, whereas those with none (7%) had a 5-year OS of 100%. Our study demonstrates improved transplant outcomes compared to prior published data, which can be attributed to the synergistic impacts of a low TRM and a reduced yet still substantial relapse incidence. By integrating genetic information with clinical and hematological features, we have devised a predictive classifier. This classifier effectively identifies a subgroup of patients who are at a heightened risk of unfavorable post-transplant outcomes who would benefit novel therapeutic agents and post-transplant strategies

Cerebral small vessel disease genomics and its implications across the lifespan

White matter hyperintensities (WMH) are the most common brain-imaging feature of cerebral small vessel disease (SVD), hypertension being the main known risk factor. Here, we identify 27 genome-wide loci for WMH-volume in a cohort of 50,970 older individuals, accounting for modification/confounding by hypertension. Aggregated WMH risk variants were associated with altered white matter integrity (p = 2.5×10-7) in brain images from 1,738 young healthy adults, providing insight into the lifetime impact of SVD genetic risk. Mendelian randomization suggested causal association of increasing WMH-volume with stroke, Alzheimer-type dementia, and of increasing blood pressure (BP) with larger WMH-volume, notably also in persons without clinical hypertension. Transcriptome-wide colocalization analyses showed association of WMH-volume with expression of 39 genes, of which four encode known drug targets. Finally, we provide insight into BP-independent biological pathways underlying SVD and suggest potential for genetic stratification of high-risk individuals and for genetically-informed prioritization of drug targets for prevention trials.Peer reviewe

Cerebral small vessel disease genomics and its implications across the lifespan

White matter hyperintensities (WMH) are the most common brain-imaging feature of cerebral small vessel disease (SVD), hypertension being the main known risk factor. Here, we identify 27 genome-wide loci for WMH-volume in a cohort of 50,970 older individuals, accounting for modification/confounding by hypertension. Aggregated WMH risk variants were associated with altered white matter integrity (p = 2.5×10-7) in brain images from 1,738 young healthy adults, providing insight into the lifetime impact of SVD genetic risk. Mendelian randomization suggested causal association of increasing WMH-volume with stroke, Alzheimer-type dementia, and of increasing blood pressure (BP) with larger WMH-volume, notably also in persons without clinical hypertension. Transcriptome-wide colocalization analyses showed association of WMH-volume with expression of 39 genes, of which four encode known drug targets. Finally, we provide insight into BP-independent biological pathways underlying SVD and suggest potential for genetic stratification of high-risk individuals and for genetically-informed prioritization of drug targets for prevention trials.</p

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

Language and Modernity : The Turkish Question

Notre thèse propose une relecture de l’histoire des politiques linguistiques en Turquie dans la première moitié du XXe siècle à partir de la philosophie de Jacques Derrida. Les réformes linguistiques de 1928 et 1930 engagées par le pouvoir furent présentées par Mustafa Kemal comme les étapes nécessaires à la modernisation de la Turquie et le socle sur lequel édifier la nation turque. Notre intuition de départ est qu’il y a dans ces réformes et plus particulièrement dans le changement d’alphabet bien plus qu’une simple translittération, bien plus qu’une simple réflexion sur l’arbitraire du signe. Au-delà de la version de l’historiographie officielle et avec l’appui de l’historiographie critique contemporaine, nous proposons d’avancer vers la question du rapport de la souveraineté et du souverain à la langue en partant de l’écriture comme différance au sens de Derrida. Cela nous a permis d’avancer sur ces questions en poussant plus avant une réflexion sur le rapport de l’Etat à l’écriture, sur le choix de la phonétisation de l’alphabet présentée comme nécessaire, sur la mise en avant de la figure de Mustafa Kemal Atatürk présentée comme indissociable de ces réformes. Enfin, ce que nous avons reconnu à partir du corpus derridien, c’est un acte fondateur. Nous posons que l’acte de lire et d’écrire dans la langue nationalisée est au fondement du sentiment d’appartenance national et que ceux-ci composent, ensemble, l’acte même par lequel les Turcs s’inscrivirent dans l’histoire moderne compris comme politisation. Cependant, l’imposition par l’Etat d’une langue afin de constituer une nation pointe la question de la violence du politique et de la violence de la langue elle-même. Passer par la philosophie de Derrida nous permet de penser le fait que cette appropriation de la langue par le pouvoir n’aboutit jamais en totalité. L’homogénéité de la nation et de la langue reste un fantasme. Derrida invite à penser le fait qu’il faille garder la possibilité de l’autre, une ouverture à la venue – possible, imaginaire, attendue, crainte – de l’autre.Our thesis proposes a rereading of the history of linguistic policies in Turkey in the first half of the 20th century based on the philosophy of Jacques Derrida. The linguistic reforms of 1928 and 1930 initiated by the government were presented by Mustafa Kemal as the necessary stages for the modernization of Turkey and the foundation on which to build the Turkish nation. Our initial intuition is that there is in these reforms and more particularly in the change of alphabet much more than a simple transliteration, much more than a simple reflection on the arbitrariness of the sign. Beyond the version of the official historiography and with the support of contemporary critical historiography, we propose to move forward towards the question of the relationship of sovereignty and the sovereign to language, starting from writing as differance in the sense of Derrida. This allowed us to move forward on these questions by pushing further a reflection on the relationship of the State to writing, on the choice of the phonetization of the alphabet presented as necessary, on the highlighting of the figure of Mustafa Kemal Atatürk presented as inseparable from these reforms. Finally, what we have recognized from the Derridian corpus is a founding act. We posit that the act of reading and writing in the nationalized language is at the foundation of the feeling of national belonging and that these together make up the very act – understood as politicization – by which the Turks inscribed themselves in modern history. However, the imposition by the State of a language to constitute a nation raises the question of the violence of politics and the violence of language itself. Going through Derrida's philosophy allows us to think about the fact that this appropriation of language by power never succeeds in its entirety. The homogeneity of nation and language remains a phantasm. Derrida invites us to think about the fact that we must keep the possibility of the other, an openness to the coming – possible, imaginary, expected, feared – of the other

Langue et modernité : la question turque

Our thesis proposes a rereading of the history of linguistic policies in Turkey in the first half of the 20th century based on the philosophy of Jacques Derrida. The linguistic reforms of 1928 and 1930 initiated by the government were presented by Mustafa Kemal as the necessary stages for the modernization of Turkey and the foundation on which to build the Turkish nation. Our initial intuition is that there is in these reforms and more particularly in the change of alphabet much more than a simple transliteration, much more than a simple reflection on the arbitrariness of the sign. Beyond the version of the official historiography and with the support of contemporary critical historiography, we propose to move forward towards the question of the relationship of sovereignty and the sovereign to language, starting from writing as differance in the sense of Derrida. This allowed us to move forward on these questions by pushing further a reflection on the relationship of the State to writing, on the choice of the phonetization of the alphabet presented as necessary, on the highlighting of the figure of Mustafa Kemal Atatürk presented as inseparable from these reforms. Finally, what we have recognized from the Derridian corpus is a founding act. We posit that the act of reading and writing in the nationalized language is at the foundation of the feeling of national belonging and that these together make up the very act – understood as politicization – by which the Turks inscribed themselves in modern history. However, the imposition by the State of a language to constitute a nation raises the question of the violence of politics and the violence of language itself. Going through Derrida's philosophy allows us to think about the fact that this appropriation of language by power never succeeds in its entirety. The homogeneity of nation and language remains a phantasm. Derrida invites us to think about the fact that we must keep the possibility of the other, an openness to the coming – possible, imaginary, expected, feared – of the other.Notre thèse propose une relecture de l’histoire des politiques linguistiques en Turquie dans la première moitié du XXe siècle à partir de la philosophie de Jacques Derrida. Les réformes linguistiques de 1928 et 1930 engagées par le pouvoir furent présentées par Mustafa Kemal comme les étapes nécessaires à la modernisation de la Turquie et le socle sur lequel édifier la nation turque. Notre intuition de départ est qu’il y a dans ces réformes et plus particulièrement dans le changement d’alphabet bien plus qu’une simple translittération, bien plus qu’une simple réflexion sur l’arbitraire du signe. Au-delà de la version de l’historiographie officielle et avec l’appui de l’historiographie critique contemporaine, nous proposons d’avancer vers la question du rapport de la souveraineté et du souverain à la langue en partant de l’écriture comme différance au sens de Derrida. Cela nous a permis d’avancer sur ces questions en poussant plus avant une réflexion sur le rapport de l’Etat à l’écriture, sur le choix de la phonétisation de l’alphabet présentée comme nécessaire, sur la mise en avant de la figure de Mustafa Kemal Atatürk présentée comme indissociable de ces réformes. Enfin, ce que nous avons reconnu à partir du corpus derridien, c’est un acte fondateur. Nous posons que l’acte de lire et d’écrire dans la langue nationalisée est au fondement du sentiment d’appartenance national et que ceux-ci composent, ensemble, l’acte même par lequel les Turcs s’inscrivirent dans l’histoire moderne compris comme politisation. Cependant, l’imposition par l’Etat d’une langue afin de constituer une nation pointe la question de la violence du politique et de la violence de la langue elle-même. Passer par la philosophie de Derrida nous permet de penser le fait que cette appropriation de la langue par le pouvoir n’aboutit jamais en totalité. L’homogénéité de la nation et de la langue reste un fantasme. Derrida invite à penser le fait qu’il faille garder la possibilité de l’autre, une ouverture à la venue – possible, imaginaire, attendue, crainte – de l’autre