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Avis de Philippe Brun, avocat général à la Cour de cassation
No full textInternational audienceAvis sur Cass., 3e civ., 4 avril 2024, no 22-21.13
F-actin disassembly by the oxidoreductase MICAL1 promotes mechano-dependent VWF-GPIBa interaction in platelets
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Le numérique contribue-t-il à réduire les barrières sociales et géographiques à la consommation culturelle ? Le cas du cinéma
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Prefazione
No full textInternational audienceHow do you interact with people who don’t speak your language? Easy! You speak your language and they speak theirs, using specific communication strategies and shared vocabulary. With its expressly-scripted plurilingual videos, Europa IC 12 trains you to effectively negotiate a conversation with speakers of different European languages. At the same time, its videos, audios, readings and exercises, train you to understand – at an A2 level – twelve languages: six Romance and six Germanic ones.Come comunicare con chi non parla la tua stessa lingua? Semplice! Basta che ognuno parli la propria lingua, ricorrendo a determinate strategie verbali (e non) e ad un lessico comune. Grazie ai suoi video plurilingui, Europa IC 12 consente di allenarti a stabilire una conversazione con parlanti di diverse lingue europee. I video, i dialoghi, i testi e gli esercizi ti permetteranno di raggiungere un livello A2 di comprensione in dodici idiomi romanzi e germanici
SWS1-complex in premature ovarian insufficiency: SWSAP1 as a new POI gene.
No full textInternational audienceStudy question: What other zinc finger SWIM domain-containing protein 7 (SWS1/ZSWIM7) partners are involved in premature ovarian insufficiency (POI)?Summary answer: This study identifies novel pathogenic variants in zinc finger SWIM domain-containing protein 7 (SWS1/ZSWIM7) and its partner, SWSAP1, which impair interhomolog homologous recombination (IH-HR) and lead to isolated POI.What is known already: Knockout mice models of the SWS1-complex (also known as the SWS1-SWSAP1-SPIDR complex or Shu complex) are infertile due to meiotic arrest. Variants of both SWS1/ZSWIM7 and SPIDR are described in POI, but so far, no SWSAP1 variants have been described in female infertility.Study design, size, duration: Screening for SWS1-complex variants was performed using exome or genome sequencing data from women with POI as ongoing patient care. In silico modelling, IH-HR assays, and western-blot analysis were performed to test the impact of novel variants identified in genes of the SWS1-complex (SWSAP1 and SWS1/ZSWIM7) on homologous recombination, protein expression, and protein interactions.Participants/materials, setting, methods: Five unrelated patients from France were enrolled based on their exome or genome sequencing result as part of ongoing patient care. All the patients were diagnosed with POI and met the European Society of Human Reproduction and Embryology (ESHRE) diagnostic criteria for POI. Functional validation was performed using mouse embryonic stem cells to study the impact of two novel variants found in two patients.Main results and the role of chance: We report five different pathogenic or likely pathogenic variants in five patients. We report the previously described c.231_232del and c.176C>T variants in SWS1/ZSWIM7, as well as two novel variants, c.22del and c.151C>T. Additionally, we report a homozygous frameshift deletion in SWSAP1 (c.353del). All the patients display a similar phenotype of severe isolated POI, associated with primary or early secondary amenorrhea and signs of puberty delay. In silico modelling and IH-HR assays of both SWS1/ZSWIM7 c.176C>T and SWSAP1 c.353del indicated a partial decrease or absence of IH-HR activity in Sws1-/- or Swsap1-/- cells, respectively, and destabilization of the SWSAP1 truncation mutant.Limitations, reasons for caution: Identification of other patients carrying SWSAP1 variants is needed to evaluate in-depth phenotype to genotype correlations. Future studies should evaluate the role of other genes in the SWS1-complex and explore the potential for therapeutic interventions targeting homologous recombination.Wider implications of the findings: These findings provide direct clinical and functional evidence that all three members of the SWS1-complex are implicated in female fertility and recapitulate the observed mouse phenotypes. IH-HR assays provide a relevant functional approach to validate novel variants in homologous recombination genes for POI patients, given the importance of IH-HR for meiotic progression.Study funding/competing interest(s): The French Genomic Medicine Initiative PFMG2025 is supported by grants from the French government, notably by the French National Research Agency under the Programme d'Investissments d'Avenir for the CAD (ANR-21-ESRE0001) and the CRefIX (ANR-10-INBS-09-01). M.J. was supported by R01 HD112624 and R35CA253174 grants. E.J.T. was supported by a Norman Beischer Fellowship and a Centre for Research Excellence for Women's Health in Reproductive Life (CRE-WHiRL) fellowship from the National Health and Medical Research Council (NHMRC). J.F.M. was supported by a Research Training Program scholarship from the Australian Government. The authors declare no competing interests.Trial registration number: This manuscript included genomic analysis performed in clinical practice in patients with RD/CGP and cancers in France. Consequently, a clinical trial NCT number was not required as we reported in this manuscript results obtained in clinical practice. In compliance with the French law on bioethics (2004-800, 06/08/2004), patients had signed written informed consent forms for clinical practice and had been informed of the research use of what remained of their samples after establishing the molecular diagnosis
Correction: Serum levels of per- and polyfluoroalkylated substances and methylation of DNA from peripheral blood
No full textInternational audienceFigure 3. Bar charts for KEGG enrichment analysis of differentially methylated CpG sites associated with (A) PFOA and (B) PFOS at threshold unadjusted p-value <0.01 in the epigenome-wide association analyses. Pathways were considered significant when the FDR < 0.05. The terms of the KEGG pathways are depicted on the y-axis. On the top figure, the x-axis is the -log10 FDR of the tests of the gene set enrichment in each pathway. On the bottom figure, the x-axis is the ratio between the number of differentially methylated genes and the number of genes in the KEGG term. The different colors represent the -log10 FDR
Profils des utilisateurs souffrant de troubles du sommeil : Vers un clustering explicable et analyse des variables différentielles
No full textInternational audienceSleep disorders have a major impact on patients' health and quality of life, but their diagnosis remains complex due to the diversity of symptoms. Today, technological advances, combined with medical data analysis, are opening new perspectives for a better understanding of these disorders. In particular, explainable artificial intelligence (XAI) aims to make AI model decisions understandable and interpretable for users. In this study, we propose a clustering-based method to group patients according to different sleep disorder profiles. By integrating an explainable approach, we identify the key factors influencing these pathologies. An experiment on anonymized real data illustrates the effectiveness and relevance of our approach.Les troubles du sommeil ont un impact majeur sur la santé et la qualité de vie des patients, mais leur diagnostic reste complexe en raison de la diversité des symptômes. Aujourd'hui, les avancées technologiques, combinées à l'analyse des données médicales, ouvrent de nouvelles perspectives pour une meilleure compréhension de ces troubles. En particulier, l'intelligence artificielle explicable (XAI) vise à rendre les décisions des modèles d'IA compréhensibles et interprétables par les utilisateurs. Dans cette étude, nous proposons une méthode basée sur le clustering afin de regrouper les patients selon différents profils de troubles du sommeil. En intégrant une approche explicable, nous identifions les facteurs clés influençant ces pathologies. Une expérimentation sur des données réelles anonymisées illustre l'efficacité et la pertinence de notre approche
SHEDs and BMSCs exhibit distinct lineage preferences in HUVECs dynamic spheroid co‐cultures: vascular versus osteogenic commitment
No full textInternational audienceAbstract Stem cells from human exfoliated deciduous teeth (SHEDs) offer a promising alternative to bone marrow‐derived mesenchymal stem cells (BMSCs) for bone tissue engineering due to their accessibility, high proliferative potential, and multipotency. In this study, we compared the osteogenic and angiogenic potential of two mesenchymal stem cells subpopulations, SHEDs and BMSCs, when co‐cultured with human umbilical vein endothelial cells (HUVECs) into spheroids over a period of 28 days in porous pullulan/dextran scaffolds loaded with hydroxyapatite (HAp) particles as the sole osteoinductive cue. Spheroids were cultured under static and dynamic conditions, with the latter employing a perfusion flow bioreactor to enhance solute transport and oxygenation. Dynamic culture conditions significantly improved cell viability compared to static culture (85% vs. 54% at Day 28), maintained spheroid integrity, and promoted the expression of angiogenic markers, such as the cluster of differentiation 31 (CD31) and von Willebrand factor (vWF), which under static culture were largely confined to the spheroid periphery. Furthermore, alpha‐smooth muscle actin/neural‐glial‐antigen 2 (αSMA/NG2) and CD31/NG2 colocalization reflected close spatial associations between SHEDs and HUVECs, suggesting a supportive perivascular interaction under dynamic culture. In the presence of HUVECs, we found that HAp particles alone were insufficient to induce robust osteogenic differentiation in SHEDs. Weak alkaline phosphatase activity, minimal osteopontin and osteocalcin expression, and incomplete mineralization were observed under both static and dynamic conditions. In contrast, BMSC/HUVEC spheroids exhibited robust osteogenic differentiation and consistent mineral deposition. These results show intrinsic differences in the behavior of SHEDs and BMSCs when co‐cultured with endothelial cells; while BMSCs tend to favor osteogenesis, SHEDs appear to adopt a more perivascular or pericytic behavior
