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1. Probing QCD Axions or Axion-like Particles in three-body $K$ Decays

Author

Cavan-Piton, Mael, Guadagnoli, Diego, Iohner, Axel, Santos, Diego Martinez, and Vittorio, Ludovico

Subjects
High Energy Physics - Phenomenology, High Energy Physics - Experiment
Abstract

Two-body decays like $K \to \pi a$ rank among the most constraining collider probes for new, low-mass, feebly interacting pseudoscalar particles $a$. We explore an alternative class of kaon decay modes, specifically three-body decays to $\pi \pi a$ or $\mu \mu a$. The former occur at tree level, while the latter is loop-suppressed yet accidentally finite. These modes specifically leverage the accurate tracking capabilities at LHCb. We present an estimation approach for the sensitivity achievable in future searches within these channels. Our argument uses the current uncertainty in leading irreducible backgrounds identified for each channel. Our findings suggest that dedicated searches could probe $f_a$ scales between $10^4$ and $10^6$ TeV, highlighting their strong potential. A direct comparison with actual searches, only available in the $K^+ \to \pi^+ \pi^0 a$ channel, supports this conclusion. Finally, we show that, in these searches, reconstruction efficiency maps are such that large efficiencies are naturally aligned with regions of higher yields in Dalitz plots., Comment: 17 pages, 10 figures

Published
2024

2. Axion emission from strange matter in core-collapse SNe

Author

Cavan-Piton, Mael, Guadagnoli, Diego, Oertel, Micaela, Seong, Hyeonseok, and Vittorio, Ludovico

Subjects
High Energy Physics - Phenomenology, Astrophysics - High Energy Astrophysical Phenomena
Abstract

The duration of the neutrino burst from the supernova event SN 1987A is known to be sensitive to exotic sources of cooling, such as axions radiated from the dense and hot hadronic matter thought to constitute the inner core of the supernova. We perform the first quantitative study of the role of hadronic matter beyond the first generation -- in particular strange matter. We do so by consistently including the full baryon and meson octets, and computing axion emissivity induced from baryon-meson to baryon-axion scatterings as well as from baryon decays. We consider a range of supernova thermodynamic conditions, as well as equation-of-state models with different strangeness content. We obtain the first bound on the axial axion-strange-strange coupling, as well as the strongest existing bound on the axion-down-strange counterpart. Our bound on the latter coupling can be as small as $O(10^{-2})$ for $f_a = 10^9$ GeV., Comment: 11 pages, 3 figures. v2: Text completely overhauled, and main figures redesigned for improved readability; results unchanged. Matches journal version

Published
2024
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5. Major floods of the V\'esubie and Roya Rivers (Alps, France) in October 2020: hydrogeomorphological caracterisation and management perspectives

Author

Melun, Gabriel, Liébault, Frédéric, Piton, Guillaume, Chapuis, Margot, Passy, Paul, Kuss, Damien, and Martins, Céline

Subjects
Physics - Geophysics
Abstract

On October 2nd, 2020, under the combined effect of the winter Alex storm formed off the Brittany coast, and a strong Mediterranean episode, very intensive rainfalls affected in the south eastern France, both Roya and V{\'e}subie catchments (locally up to 600 mm in 24h). This paroxysmal event with a heavy human toll (10 dead, 8 missing) generated extreme flash floods over a large part of the hydrographic network. The result is an almost generalized fluvial metamorphosis of rivers, from sinuous single-thread channels to braided channels. The characterization of morphological effects of these floods is based on a diachronic aerial picture analysis highlighting a strong increase of the active channel width (up to 900%) reaching -- or even pushing back in few sectors -- front limits of the valley bottom. In the V{\'e}subie, the 2D morphological effect of the Alex storm was 10 times higher than that of the 100-yrs return period flood of November 1997. Comparison of digital terrain models (DEM) before- and after-flood also allows us to foresee the altitudinal variations (erosion/deposition) that affected beds and their riverine margins. The analysis of the impacts caused by these floods changes the perception of the ``freedom space'' of these alpine rivers, which now must be taken into account in the perspective of resilient reconstruction., Comment: in French language. IS Rivers 2022, ZABR; GRAIE, Jul 2022, Lyon, France

Published
2023

6. Novel lateral flow assay for point-of-care detection of Neisseria gonorrhoeae infection in syndromic management settings: a cross-sectional performance evaluation.

Author

Peters, Remco, Klausner, Jeffrey, Mazzola, Laura, Mdingi, Mandisa, Jung, Hyunsul, Gigi, Ranjana, Piton, Jeremie, Daniels, Joseph, de Vos, Lindsey, Adamson, Paul, Gleeson, Birgitta, and Ferreyra, Cecilia

Subjects
Humans, Male, Female, Young Adult, Adult, Gonorrhea, Cross-Sectional Studies, Point-of-Care Systems, Chlamydia Infections, Chlamydia trachomatis, Neisseria gonorrhoeae, Sensitivity and Specificity, Vaginal Discharge
Abstract

BACKGROUND: A rapid and affordable point-of-care test is a priority for Neisseria gonorrhoeae control. WHO and Foundation for Innovative New Diagnostics (FIND) have a target product profile for a non-molecular N gonorrhoeae rapid point-of-care test that requires a clinical sensitivity of greater than 80% and a specificity over 95% to be considered useful in syndromic management; test turnaround time should be 30 min or under, and the test should cost less than US$3. A novel lateral flow assay (LFA) was developed to achieve that profile. METHODS: In this cross-sectional study we evaluated the performance of the novel N gonorrhoeae lateral flow assay (NG-LFA) at the primary health-care level in South Africa. Male patients with urethral discharge syndrome and female patients with vaginal discharge syndrome were recruited from five primary health-care facilities in the Buffalo City Metropolitan Municipality health district of South Africa. First-void urine specimens and nurse-collected vaginal swabs were tested in-facility with the NG-LFA and Xpert CT/NG PCR assay. N gonorrhoeae multi-antigen sequence typing (NG-MAST) was performed on all LFA positive specimens. FINDINGS: Between March 7, and Sept 19, 2022, we enrolled 200 male patients with urethral discharge and 200 female patients with vaginal discharge. The median age of male patients was 24 years (IQR 21-31 years), and the median age of female patients was 25 years (IQR 21-32 years). In addition, 23 male patients and 12 female patients who presented at the facility with a partner notification slip were enrolled of whom one (4%) and five (42%) were symptomatic, respectively. NG-LFA and Xpert results were available for all participants. In urine specimens, NG-LFA sensitivity was 96·1% (Wilson 95% CI 91·2-98·3; 123 LFA-positive among 128 PCR-positive specimens) and 91·7% in vaginal swab specimens (78·2-97·1; 33 LFA-positive among 36 PCR-positive). The specificity was 97·2% in urine specimens (90·4-99·2; 70 LFA-negative among 72 PCR-negative) and 96·3% in vaginal specimens (92·2-98·3; 158 LFA-negative among 164 PCR-negative). In 156 LFA-positive specimens, NG-MAST showed 93 different sequence types. INTERPRETATION: The novel NG-LFA had excellent clinical sensitivity and specificity in symptomatic male and female patients. The test met the optimal requirement for sensitivity and the minimal requirement for specificity specified in the target product profile. NG-LFA could provide an important tool to optimise clinical management and reduce excess antibiotic use in settings without direct access to laboratory testing. FUNDING: Global Antimicrobial Resistance Innovation Fund (GAMRIF) via FIND and National Institutes of Health.

Published
2024

7. Influence of SARS-CoV-2 variants on COVID-19 epidemiological and clinical profiles: a comparative analysis of two waves of cases

Author

Pérola Rodrigues dos Santos, Uener Ribeiro dos Santos, Íris Terezinha Santos de Santana Silva, Hllytchaikra Ferraz Fehlberg, Fabrício Barbosa Ferreira, George Rego Albuquerque, Ana Paula Melo Mariano, Murillo Ferreira da Silva, Leonardo Santos Lemos, Karoline Almeida Piton, Mylene de Melo Silva, Renato Fontana, Eric Roberto Guimarães Rocha Aguiar, Lauro Juliano Marin, and Sandra Rocha Gadelha

Subjects
COVID-19, RT-qPCR, Genomic surveillance, SARS-CoV-2 variants, Infectious and parasitic diseases, RC109-216
Abstract

Abstract Background The COVID-19 pandemic has been the most significant health challenge of the last century. Multiple and successive waves of COVID-19 cases, driven particularly by the emergence of new SARS-CoV-2 variants, have kept the world in a constant state of alert. Methods We present an observational, descriptive, cross-sectional study aimed at identifying SARS-CoV-2 variants circulating during two local waves of COVID-19 cases in southern Bahia, Brazil (late 2021 and late 2022), and analyzing the association between the detected variants and the epidemiological and clinical characteristics of the disease. For this purpose, data and nasopharyngeal samples from individuals in southern Bahia, Brazil, with suspected COVID-19 were included. Viral detection was performed by RT-qPCR, and SARS-CoV-2 variants were identified by next-generation viral sequencing. Results A total of 368 nasopharyngeal samples were tested. Approximately 23% of the samples from late 2021 tested positive for SARS-CoV-2, while in 2022, the positivity rate was about 56%. All sequenced samples from 2021 were identified as the Delta variant, while in 2022, all samples were classified as the Omicron variant. Overall, individuals who tested positive for SARS-CoV-2 in 2022 were younger than those who tested positive in 2021. Moreover, we observed significant differences in the clinical spectrum of SARS-CoV-2 infection when comparing the two periods. Individuals who presented with anosmia/ageusia were more likely to test positive for SARS-CoV-2 infection in 2021 but not in 2022. Additionally, fever, dry cough, pharyngalgia, headache, and rhinorrhea were more frequent among individuals infected with the Omicron variant than among those infected with the Delta variant. Conclusions The profile of COVID-19 in southern Bahia differed when analyzing two distinct waves of the pandemic in the region. These differences are likely related to the variants, which may differ in transmissibility and virulence, thereby altering the dynamics of the pandemic. This underscores the importance of genomic surveillance in better understanding the behavior of viral infections.

Published
2024
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8. Developmental interplay between transcriptional alterations and a targetable cytokine signaling dependency in pediatric ETO2::GLIS2 leukemia

Author

Verónica Alonso-Pérez, Klaudia Galant, Fabien Boudia, Elie Robert, Zakia Aid, Laurent Renou, Vilma Barroca, Saryiami Devanand, Loélia Babin, Virginie Rouiller-Fabre, Delphine Moison, Didier Busso, Guillaume Piton, Christophe Metereau, Nassera Abermil, Paola Ballerini, Pierre Hirsch, Rima Haddad, Jelena Martinovic, Arnaud Petit, Hélène Lapillonne, Erika Brunet, Thomas Mercher, and Françoise Pflumio

Subjects
Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Abstract Background Several fusion oncogenes showing a higher incidence in pediatric acute myeloid leukemia (AML) are associated with heterogeneous megakaryoblastic and other myeloid features. Here we addressed how developmental mechanisms influence human leukemogenesis by ETO2::GLIS2, associated with dismal prognosis. Methods We created novel ETO2::GLIS2 models of leukemogenesis through lentiviral transduction and CRISPR-Cas9 gene editing of human fetal and post-natal hematopoietic stem/progenitor cells (HSPCs), performed in-depth characterization of ETO2::GLIS2 transformed cells through multiple omics and compared them to patient samples. This led to a preclinical assay using patient-derived-xenograft models to test a combination of two clinically-relevant molecules. Results We showed that ETO2::GLIS2 expression in primary human fetal CD34+ hematopoietic cells led to more efficient in vivo leukemia development than expression in post-natal cells. Moreover, cord blood-derived leukemogenesis has a major dependency on the presence of human cytokines, including IL3 and SCF. Single cell transcriptomes revealed that this cytokine environment controlled two ETO2::GLIS2-transformed states that were also observed in primary patient cells. Importantly, this cytokine sensitivity may be therapeutically-exploited as combined MEK and BCL2 inhibition showed higher efficiency than individual molecules to reduce leukemia progression in vivo. Conclusions Our study uncovers an interplay between the cytokine milieu and transcriptional programs that extends a developmental window of permissiveness to transformation by the ETO2::GLIS2 AML fusion oncogene, controls the intratumoral cellular heterogeneity, and offers a ground-breaking therapeutical opportunity by a targeted combination strategy.

Published
2024
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9. Life history strategies of soil bacterial communities across global terrestrial biomes

Author

Piton, Gabin, Allison, Steven D, Bahram, Mohammad, Hildebrand, Falk, Martiny, Jennifer BH, Treseder, Kathleen K, and Martiny, Adam C

Subjects
Microbiology, Biological Sciences, Ecology, Aetiology, 2.2 Factors relating to the physical environment, Medical Microbiology
Abstract

The life history strategies of soil microbes determine their metabolic potential and their response to environmental changes. Yet these strategies remain poorly understood. Here we use shotgun metagenomes from terrestrial biomes to characterize overarching covariations of the genomic traits that capture dominant life history strategies in bacterial communities. The emerging patterns show a triangle of life history strategies shaped by two trait dimensions, supporting previous theoretical and isolate-based studies. The first dimension ranges from streamlined genomes with simple metabolisms to larger genomes and expanded metabolic capacities. As metabolic capacities expand, bacterial communities increasingly differentiate along a second dimension that reflects a trade-off between increasing capacities for environmental responsiveness or for nutrient recycling. Random forest analyses show that soil pH, C:N ratio and precipitation patterns together drive the dominant life history strategy of soil bacterial communities and their biogeographic distribution. Our findings provide a trait-based framework to compare life history strategies of soil bacteria.

Published
2023

10. Influence of SARS-CoV-2 variants on COVID-19 epidemiological and clinical profiles: a comparative analysis of two waves of cases

Author

dos Santos, Pérola Rodrigues, dos Santos, Uener Ribeiro, de Santana Silva, Íris Terezinha Santos, Fehlberg, Hllytchaikra Ferraz, Ferreira, Fabrício Barbosa, Albuquerque, George Rego, Mariano, Ana Paula Melo, da Silva, Murillo Ferreira, Lemos, Leonardo Santos, Piton, Karoline Almeida, de Melo Silva, Mylene, Fontana, Renato, Guimarães Rocha Aguiar, Eric Roberto, Marin, Lauro Juliano, and Gadelha, Sandra Rocha

Published
2024
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11. Developmental interplay between transcriptional alterations and a targetable cytokine signaling dependency in pediatric ETO2::GLIS2 leukemia

Author

Alonso-Pérez, Verónica, Galant, Klaudia, Boudia, Fabien, Robert, Elie, Aid, Zakia, Renou, Laurent, Barroca, Vilma, Devanand, Saryiami, Babin, Loélia, Rouiller-Fabre, Virginie, Moison, Delphine, Busso, Didier, Piton, Guillaume, Metereau, Christophe, Abermil, Nassera, Ballerini, Paola, Hirsch, Pierre, Haddad, Rima, Martinovic, Jelena, Petit, Arnaud, Lapillonne, Hélène, Brunet, Erika, Mercher, Thomas, and Pflumio, Françoise

Published
2024
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12. Resilience after severe critical illness: a prospective, multicentre, observational study (RESIREA)

Author

Mathieu, Alice, Reignier, Jean, Le Gouge, Amélie, Plantefeve, Gaetan, Mira, Jean-Paul, Argaud, Laurent, Asfar, Pierre, Badie, Julio, Botoc, Nicolae-Vlad, Bui, Hoang-Nam, Chatellier, Delphine, Chauvelot, Louis, Cracco, Christophe, Darmon, Michael, Delbove, Agathe, Devaquet, Jérôme, Dumont, Louis-Marie, Gontier, Olivier, Groyer, Samuel, Hourmant, Yannick, Jaber, Samir, Lambiotte, Fabien, Madeux, Benjamin, Maizel, Julien, Martinet, Olivier, Maxime, Virginie, Mercier, Emmanuelle, Nay, Mai-Anh, Nseir, Saad, Piton, Gael, Quenot, Jean-Pierre, Renault, Anne, Rigaud, Jean-Philippe, Schneider, Francis, Sirodot, Michel, Souweine, Bertrand, Tamion, Fabienne, Thévenin, Didier, Thieulot-Rolin, Nathalie, Tinturier, Francois, Tirot, Patrice, Vinatier, Isabelle, Vinsonneau, Christophe, Lascarrou, Jean-Baptiste, and Laurent, Alexandra

Published
2024
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15. Oxygenation management during veno-arterial ECMO support for cardiogenic shock: a multicentric retrospective cohort study

Author

Winiszewski, Hadrien, Vieille, Thibault, Guinot, Pierre-Grégoire, Nesseler, Nicolas, Le Berre, Mael, Crognier, Laure, Roche, Anne-Claude, Fellahi, Jean-Luc, D’Ostrevy, Nicolas, Ltaief, Zied, Didier, Juliette, Arab, Osama Abou, Meslin, Simon, Scherrer, Vincent, Besch, Guillaume, Monnier, Alexandra, Piton, Gael, Kimmoun, Antoine, and Capellier, Gilles

Published
2024
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17. Prediction of esophagogastroduodenoscopy therapeutic usefulness for in-ICU suspected upper gastrointestinal bleeding: the SUGIBI score study

Author

Penaud, Victor, Vieille, Thibault, Urbina, Tomas, Bonny, Vincent, Gabarre, Paul, Missri, Louai, Gasperment, Maxime, Baudel, Jean-Luc, Carbonell, Nicolas, Beurton, Alexandra, Chaibi, Sayma, Retbi, Aurélia, Fartoukh, Muriel, Piton, Gaël, Guidet, Bertrand, Maury, Eric, Ait-Oufella, Hafid, and Joffre, Jérémie

Published
2024
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19. Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?

Author

Wirth, Thomas, Bonnet, Céline, Delvallée, Clarisse, Pellerin, David, Bogdan, Thomas, Clément, Guillemette, Schalk, Audrey, Chanson, Jean-Baptiste, Fleury, Marie-Céline, Piton, Amélie, Calmels, Nadège, Namer, Izzie Jacques, Kremer, Stéphane, Brais, Bernard, Tranchant, Christine, Renaud, Mathilde, and Anheim, Mathieu

Published
2024
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20. Factors Affecting Success in Solving a Stand-Alone Geometrical Problem by Students Aged 14 to 15

Author

Antunovic-Piton, Branka and Baranovic, Nives

Abstract

This paper investigates and considers factors that affect success in solving a stand-alone geometrical problem by 182 students of the 7th and 8th grades of elementary school. The starting point for consideration is a geometrical task from the National Secondary School Leaving Exam in Croatia (State Matura), utilising elementary-level geometry concepts. The task was presented as a textual problem with an appropriate drawing and a task within a given context. After data processing, the key factors affecting the process of problem solving were singled out: visualisation skills, detection and connection of concepts, symbolic notations, and problem-solving culture. The obtained results are the basis of suggestions for changes in the geometry teaching-learning process.

Published
2022

21. Unified Platform for Automated Tests of Inverter-Based Resources with Harware-in-the-loop

Author

Luiz F. R. Menegazzo, Anderson L. N. Severo, Lucas Bisêlo Piton, Catherine Marquioro de Freitas, Ricardo Jochann Franceschi Bortolini, Lucas Vizzotto Bellinaso, Leandro Michels, and Fernanda de Morais Carnielutti

Subjects
CHIL, Inverter-based Resources, Hardware-in-the-loop, Photovoltaic Inverter, Test automation, Test Platform, Electrical engineering. Electronics. Nuclear engineering, TK1-9971
Abstract

Testing of inverter-based resources (IBRs) faces challenges in establishing standardized procedures across all product development stages. Most of the testing approaches use Hardware-in-the-Loop (HIL) during the early stages independently from the final product testing, which can lead to discrepant results. To solve these issues, this paper proposes a unified platform for automatically testing IBRs. It can be used during all product development stages, from pure simulation to Controller Hardware-in-the-Loop (CHIL) and finally on the complete commercial product, ensuring uniform test procedures with different test setups. A case study describing compliance tests of grid-connection codes of photovoltaic (PV) inverters are presented to demonstrate the proposed approach. Experimental tests were performed in accordance to Brazilian grid-connection codes in an ISO/IEC 17025 accredited laboratory. The results obtained with the proposed platform in CHIL and full-hardware showed high similarity with the ones obtained with the accredited laboratory, validating the proposed approach. In addition, the platform can be used to perform tests not specified in standards and to verify the performance of IBRs in operating conditions that are often difficult to be tested in laboratory. Ensuring consistent test procedures, the platform facilitates comparable results along all the testing stages, reducing the product development cycle.

Published
2024
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22. Correlation of programmed death-ligand 1 expression in tumour cells between diagnostic small biopsies performed by radial EBUS and surgical specimens of peripheral lung cancer

Author

Florian Guisier, Samy Lachkar, Diane Gervereau, Perrot Loïc, Marielle De Marchi, Helene Morisse, Edouard Dantoing, Nicolas Piton, Luc Thiberville, and Mathieu Salaün

Subjects
Medicine, Diseases of the respiratory system, RC705-779
Abstract

Background and objective Expression of programmed death-ligand 1 (PD-L1) in tumour cells (TCs) is predictive of immunotherapy efficacy in non-small cell lung cancer (NSCLC). Small biopsy samples collected by bronchoscopy are often used to diagnose peripheral lung cancer. It is questionable whether these small samples from radial endobronchial ultrasonography (r-EBUS) procedures are representative of PD-L1 expression in TCs.Methods We retrieved data of consecutive patients who had surgery for NSCLC and previous r-EBUS biopsy sampling, from 2017 to 2019 in our centre. PD-L1 expression in tumour cells was categorised as

Published
2024
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24. Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome

Author

Courraud, Jérémie, Engel, Camille, Quartier, Angélique, Drouot, Nathalie, Houessou, Ursula, Plassard, Damien, Sorlin, Arthur, Brischoux-Boucher, Elise, Gouy, Evan, Van Maldergem, Lionel, Rossi, Massimiliano, Lesca, Gaetan, Edery, Patrick, Putoux, Audrey, Bilan, Frederic, Gilbert-Dussardier, Brigitte, Atallah, Isis, Kalscheuer, Vera M., Mandel, Jean-Louis, and Piton, Amélie

Published
2024
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25. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Author

Husson, Thomas, Lecoquierre, François, Nicolas, Gaël, Richard, Anne-Claire, Afenjar, Alexandra, Audebert-Bellanger, Séverine, Badens, Catherine, Bilan, Frédéric, Bizaoui, Varoona, Boland, Anne, Bonnet-Dupeyron, Marie-Noëlle, Brischoux-Boucher, Elise, Bonnet, Céline, Bournez, Marie, Boute, Odile, Brunelle, Perrine, Caumes, Roseline, Charles, Perrine, Chassaing, Nicolas, Chatron, Nicolas, Cogné, Benjamin, Colin, Estelle, Cormier-Daire, Valérie, Dard, Rodolphe, Dauriat, Benjamin, Delanne, Julian, Deleuze, Jean-François, Demurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Dieux, Anne, Dubourg, Christèle, Edery, Patrick, El Chehadeh, Salima, Faivre, Laurence, Fergelot, Patricia, Fradin, Mélanie, Garde, Aurore, Geneviève, David, Gilbert-Dussardier, Brigitte, Goizet, Cyril, Goldenberg, Alice, Gouy, Evan, Guerrot, Anne-Marie, Guimier, Anne, Harzalla, Inès, Héron, Delphine, Isidor, Bertrand, Lacombe, Didier, Le Guillou Horn, Xavier, Keren, Boris, Kuechler, Alma, Lacaze, Elodie, Lavillaureix, Alinoë, Lehalle, Daphné, Lesca, Gaëtan, Lespinasse, James, Levy, Jonathan, Lyonnet, Stanislas, Morel, Godeliève, Jean-Marçais, Nolwenn, Marlin, Sandrine, Marsili, Luisa, Mignot, Cyril, Nambot, Sophie, Nizon, Mathilde, Olaso, Robert, Pasquier, Laurent, Perrin, Laurine, Petit, Florence, Pingault, Veronique, Piton, Amélie, Prieur, Fabienne, Putoux, Audrey, Planes, Marc, Odent, Sylvie, Quélin, Chloé, Quemener-Redon, Sylvia, Rama, Mélanie, Rio, Marlène, Rossi, Massimiliano, Schaefer, Elise, Rondeau, Sophie, Saugier-Veber, Pascale, Smol, Thomas, Sigaudy, Sabine, Touraine, Renaud, Mau-Them, Frederic Tran, Trimouille, Aurélien, Van Gils, Julien, Vanlerberghe, Clémence, Vantalon, Valérie, Vera, Gabriella, Vincent, Marie, Ziegler, Alban, Guillin, Olivier, Campion, Dominique, and Charbonnier, Camille

Published
2024
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26. Malignant features of minipig melanomas prior to spontaneous regression

Author

Héloïse Débare, Fany Blanc, Guillaume Piton, Jean-Jacques Leplat, Silvia Vincent-Naulleau, Julie Rivière, Marthe Vilotte, Sylvain Marthey, Jérôme Lecardonnel, Jean-Luc Coville, Jordi Estellé, Andrea Rau, Emmanuelle Bourneuf, and Giorgia Egidy

Subjects
Medicine, Science
Abstract

Abstract In MeLiM minipigs, melanomas develop around birth, can metastasize, and have histopathologic characteristics similar to humans. Interestingly, MeLiM melanomas eventually regress. This favorable outcome raises the question of their malignancy, which we investigated. We clinically followed tens of tumors from onset to first signs of regression. Transcriptome analysis revealed an enrichment of all cancer hallmarks in melanomas, although no activating or suppressing somatic mutation were found in common driver genes. Analysis of tumor cell genomes revealed high mutation rates without UV signature. Canonical proliferative, survival and angiogenic pathways were detected in MeLiM tumor cells all along progression stages. Functionally, we show that MeLiM melanoma cells are capable to grow in immunocompromised mice, with serial passages and for a longer time than in MeLiM pigs. Pigs set in place an immune response during progression with dense infiltration by myeloid cells while melanoma cells are deficient in B2M expression. To conclude, our data on MeLiM melanomas reveal several malignancy characteristics. The combination of these features with the successful spontaneous regression of these tumors make it an outstanding model to study an efficient anti-tumor immune response.

Published
2024
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27. An unusual case of primary splenic soft part alveolar sarcoma: case report and review of the literature with emphasis on the spectrum of TFE3-associated neoplasms

Author

René Guérin, Anne-Lise Menard, Emilie Angot, Nicolas Piton, Pierre Vera, Lilian Schwarz, Jean-Christophe Sabourin, Marick Laé, and Pierre-Alain Thiébaut

Subjects
Alveolar soft part sarcoma, Splenic, TFE3, Pathology, RB1-214
Abstract

Abstract Background Alveolar soft part sarcoma is a rare tumour of soft tissues, mostly localized in muscles or deep soft tissues of the extremities. In rare occasions, this tumour develops in deep tissues of the abdomen or pelvis. Case presentation In this case report, we described the case of a 46 year old man who developed a primary splenic alveolar soft part sarcoma. The tumour displayed typical morphological alveolar aspect, as well as immunohistochemical profile notably TFE3 nuclear staining. Detection of ASPSCR1 Exon 7::TFE3 Exon 6 fusion transcript in molecular biology and TFE3 rearrangement in FISH confirmed the diagnosis. Conclusion We described the first case of primary splenic alveolar soft part sarcoma, which questions once again the cell of origin of this rare tumour.

Published
2024
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28. Oxygenation management during veno-arterial ECMO support for cardiogenic shock: a multicentric retrospective cohort study

Author

Hadrien Winiszewski, Thibault Vieille, Pierre-Grégoire Guinot, Nicolas Nesseler, Mael Le Berre, Laure Crognier, Anne-Claude Roche, Jean-Luc Fellahi, Nicolas D’Ostrevy, Zied Ltaief, Juliette Didier, Osama Abou Arab, Simon Meslin, Vincent Scherrer, Guillaume Besch, Alexandra Monnier, Gael Piton, Antoine Kimmoun, and Gilles Capellier

Subjects
Extracorporeal membrane oxygenation, Cardiogenic shock, Hyperoxia, Sweep gas oxygen fraction, Mortality, Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9
Abstract

Abstract Backgound Hyperoxemia is common and associated with poor outcome during veno-arterial extracorporeal membrane oxygenation (VA ECMO) support for cardiogenic shock. However, little is known about practical daily management of oxygenation. Then, we aim to describe sweep gas oxygen fraction (FSO2), postoxygenator oxygen partial pressure (PPOSTO2), inspired oxygen fraction (FIO2), and right radial arterial oxygen partial pressure (PaO2) between day 1 and day 7 of peripheral VA ECMO support. We also aim to evaluate the association between oxygenation parameters and outcome. In this retrospective multicentric study, each participating center had to report data on the last 10 eligible patients for whom the ICU stay was terminated. Patients with extracorporeal cardiopulmonary resuscitation were excluded. Primary endpoint was individual mean FSO2 during the seven first days of ECMO support (FSO2 mean (day 1−7) ). Results Between August 2019 and March 2022, 139 patients were enrolled in 14 ECMO centers in France, and one in Switzerland. Among them, the median value for FSO2 mean (day 1−7) was 70 [57; 79] % but varied according to center case volume. Compared to high volume centers, centers with less than 30 VA-ECMO runs per year were more likely to maintain FSO2 ≥ 70% (OR 5.04, CI 95% [1.39; 20.4], p = 0.017). Median value for right radial PaO2 mean (day 1−7) was 114 [92; 145] mmHg, and decreased from 125 [86; 207] mmHg at day 1, to 97 [81; 133] mmHg at day 3 (p

Published
2024
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29. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Author

Palmer, Elizabeth, Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew, Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan, Chedrawi, Aziza, Hashem, Mais, Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance, Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias, Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda, Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer, Sands, Tristan, Wilson, Golder, Silvertooth, Erin, Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein, Ockeloen, Charlotte, Pfundt, Rolph, Kroft, Sanne, Field, Michael, Laranjeira, Francisco, Fortuna, Ana, Soares, Ana, Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David, Bird, Lynne, Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe, Blazo, Maria, Bijlsma, Emilia, Rosenfeld, Jill, Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb, Armstrong, Ruth, and Kalscheuer, Vera

Subjects
Male, Female, Humans, Neurodevelopmental Disorders, Mutation, Missense, Genes, X-Linked, Phenotype, Chloride Channels
Abstract

Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public variant databases we assembled a database of 90 rare CLCN4 missense variants in 90 families: 41 unique and 18 recurrent variants in 49 families. For 43 families, including 22 males and 33 females, we collated detailed clinical and segregation data. To confirm causality of variants and to obtain insight into disease mechanisms, we investigated the effect on electrophysiological properties of 59 of the variants in Xenopus oocytes using extended voltage and pH ranges. Detailed analyses revealed new pathophysiological mechanisms: 25% (15/59) of variants demonstrated LOF, characterized by a shift of the voltage-dependent activation to more positive voltages, and nine variants resulted in a toxic gain-of-function, associated with a disrupted gate allowing inward transport at negative voltages. Functional results were not always in line with in silico pathogenicity scores, highlighting the complexity of pathogenicity assessment for accurate genetic counselling. The complex neurocognitive and psychiatric manifestations of this condition, and hitherto under-recognized impacts on growth, gastrointestinal function, and motor control are discussed. Including published cases, we summarize features in 122 individuals from 67 families with CLCN4-related neurodevelopmental condition and suggest future research directions with the aim of improving the integrated care for individuals with this diagnosis.

Published
2023

30. Tempête Alex – retour d’expérience des crues torrentielles du 2 octobre 2020 dans les Alpes-Maritimes

Author

Céline Martins, Guillaume Piton, Damien Kuss, Cécile Guitet, Simon Carladous, Yannick Robert, Nathalie Andréis, Frédéric Liébault, Margot Chapuis, Paul Passy, Gabriel Melun, Clément Misset, and Yann Quefféléan

Subjects
Tempête ALEX, retour d’expérience, crue torrentielle, évolutions morphologiques, transport sédimentaire, Storm Alex, Hydraulic engineering, TC1-978, Environmental technology. Sanitary engineering, TD1-1066
Abstract

La tempête Alex a touché la France le 1–2 octobre 2020 et provoqué les 23 octobre un épisode méditerranéen exceptionnel sur les Alpes-Maritimes. L’épisode a généré des crues torrentielles d’une magnitude sans précédent depuis plusieurs siècles sur les vallées de la Roya et de la Vésubie avec des évolutions morphologiques majeures et un bilan humain et matériel lourd. A la demande de la Direction des Territoires et de la Mer des Alpes-Maritimes, un retour d’expérience technique a été réalisé afin de comprendre et caractériser les phénomènes associés à cet évènement. Ce retour d’expérience a également été mis à profit, au fur et à mesure des besoins, pour accompagner les services de l’Etat et les collectivités gemapiennes en matière de réduction des risques et de reconstruction des vallées. L’ampleur de l’évènement a nécessité d’adapter rapidement les outils et les méthodologies. L’acquisition d’une topographie haute résolution, l’organisation d’une vaste campagne de terrain, l’élaboration de formulaires spécifiques pour les relevés de terrain via une application mobile accessible à tous, ainsi que la collaboration de l’ensemble des acteurs du territoire ont permis de construire une base de données riche pour relever les différents défis posés par un tel évènement.

Published
2024
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31. The role of DEAD- and DExH-box RNA helicases in neurodevelopmental disorders

Author

Johannes Lederbauer, Sarada Das, Amelie Piton, Davor Lessel, and Hans-Jürgen Kreienkamp

Subjects
stress granules, P-bodies, miRNA, translation, R-loop, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Neurodevelopmental disorders (NDDs) represent a large group of disorders with an onset in the neonatal or early childhood period; NDDs include intellectual disability (ID), autism spectrum disorders (ASD), attention deficit hyperactivity disorders (ADHD), seizures, various motor disabilities and abnormal muscle tone. Among the many underlying Mendelian genetic causes for these conditions, genes coding for proteins involved in all aspects of the gene expression pathway, ranging from transcription, splicing, translation to the eventual RNA decay, feature rather prominently. Here we focus on two large families of RNA helicases (DEAD- and DExH-box helicases). Genetic variants in the coding genes for several helicases have recently been shown to be associated with NDD. We address genetic constraints for helicases, types of pathological variants which have been discovered and discuss the biological pathways in which the affected helicase proteins are involved.

Published
2024
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32. Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing—A Multicenter Cohort Study

Author

Baer, Sarah, Schalk, Audrey, Miguet, Marguerite, Schaefer, Élise, El Chehadeh, Salima, Ginglinger, Emmanuelle, de Saint Martin, Anne, Abi Wardé, Marie-Thérèse, Laugel, Vincent, de Feraudy, Yvan, Gauer, Lucas, Hirsch, Edouard, Boulay, Clotilde, Bansept, Claire, Bolocan, Anamaria, Kitadinis, Ismini, Gouronc, Aurélie, Gérard, Bénédicte, Piton, Amélie, and Scheidecker, Sophie

Published
2024
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34. Prediction of esophagogastroduodenoscopy therapeutic usefulness for in-ICU suspected upper gastrointestinal bleeding: the SUGIBI score study

Author

Victor Penaud, Thibault Vieille, Tomas Urbina, Vincent Bonny, Paul Gabarre, Louai Missri, Maxime Gasperment, Jean-Luc Baudel, Nicolas Carbonell, Alexandra Beurton, Sayma Chaibi, Aurélia Retbi, Muriel Fartoukh, Gaël Piton, Bertrand Guidet, Eric Maury, Hafid Ait-Oufella, and Jérémie Joffre

Subjects
Gastrointestinal bleeding, Esophagogastroduodenoscopy, Hemostasis, Endotherapy, «Stress» ulcer, Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9
Abstract

Abstract Background Suspected upper gastrointestinal bleeding (SUGIB) is a common issue during ICU stay. In the absence of specific guidelines on the indication and timing of esophagogastroduodenoscopy (EGD), there is substantial variability in EGD indication depending on accessibility and clinical presentation. This study aimed to investigate factors associated with the need for per-EGD hemostatic therapy and to create a score predicting therapeutic benefit of emergency bedside EGD in ICU patients with SUGIB. Methods We conducted a retrospective study in our ICU to identify factors associated with the need for hemostatic procedure during EGD performed for SUGIB. From this observational cohort, we derived a score predicting the need for hemostasis during EGD, the SUGIBI score. This score was subsequently validated in a retrospective multicenter cohort. Results Two hundred fifty-five patients not primarily admitted for GI bleeding who underwent a bedside EGD for SUGIB during their ICU stay were analyzed. The preeminent EGD indication were anemia (79%), melena (19%), shock (14%), and hematemesis (13%). EGD was normal in 24.7% of cases, while primary lesions reported were ulcers (23.1%), esophagitis (18.8%), and gastritis (12.5%). Only 12.9% of patients underwent hemostatic endotherapy during EGD. A SUGIBI score

Published
2024
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35. Implementation considerations for a point-of-care Neisseria gonorrhoeae rapid diagnostic test at primary healthcare level in South Africa: a qualitative study

Author

Lindsey de Vos, Joseph Daniels, Avuyonke Gebengu, Laura Mazzola, Birgitta Gleeson, Benjamin Blümel, Jérémie Piton, Mandisa Mdingi, Ranjana M.S. Gigi, Cecilia Ferreyra, Jeffrey D. Klausner, and Remco P.H. Peters

Subjects
Neisseria gonorrhoeae, Sexually transmitted infections, Point of care test, Implementation, Qualitative, Normalization process theory, Public aspects of medicine, RA1-1270
Abstract

Abstract Background South Africa maintains an integrated health system where syndromic management of sexually transmitted infections (STI) is the standard of care. An estimated 2 million cases of Neisseria gonorrhoeae (N. gonorrhoeae) occur in South Africa every year. Point-of-care diagnostic tests (POCT) may address existing STI control limitations such as overtreatment and missed cases. Subsequently, a rapid lateral flow assay with fluorescence-based detection (NG-LFA) with a prototype reader was developed for N. gonorrhoeae detection showing excellent performance and high usability; however, a better understanding is needed for device implementation and integration into clinics. Methods A qualitative, time-series assessment using 66 in-depth interviews was conducted among 25 trained healthcare workers involved in the implementation of the NG-LFA. Findings were informed by the Normalization Process Theory (NPT) as per relevant contextual (strategic intentions, adaptive execution, and negotiation capacity) and procedural constructs (coherence, cognitive participation, collective action, reflexive monitoring) to examine device implementation within primary healthcare levels. Interviews were audio-recorded, transcribed, and then analyzed using a thematic approach guided by NPT to interpret results. Results Overall, healthcare workers agreed that STI POCT could guide better STI clinical decision-making, with consideration for clinic integration such as space constraints, patient flow, and workload. Perceived NG-LFA benefits included enhanced patient receptivity and STI knowledge. Further, healthcare workers reflected on the suitability of the NG-LFA given current limitations with integrated primary care. Recommendations included sufficient STI education, and appropriate departments for first points of entry for STI screening. Conclusions The collective action and participation by healthcare workers in the implementation of the NG-LFA revealed adaptive execution within the current facility environment including team compositions, facility-staff receptivity, and STI management experiences. User experiences support future clinic service integration, highlighting the importance of further assessing patient-provider communication for STI care, organizational readiness, and identification of relevant departments for STI screening.

Published
2024
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37. Quantifying iodine concentration in the normal bowel wall using dual-energy CT: influence of patient and contrast characteristics

Author

Majida Nehnahi, Gabriel Simon, Romain Moinet, Gael Piton, Camille Camelin, Maxime Ronot, Éric Delabrousse, and Paul Calame

Subjects
Medicine, Science
Abstract

Abstract This study aimed to establish quantitative references of the normal bowel wall iodine concentration (BWIC) using dual energy CT (DECT). This single-center retrospective study included 248 patients with no history of gastrointestinal disease who underwent abdominal contrast-enhanced DECT between January and April 2022. The BWIC was normalized by the iodine concentration of upper abdominal organs (BWICorgan,) and the iodine concentration (IC) of the aorta (BWICaorta). BWIC decreased from the stomach to the rectum (mean 2.16 ± 0.63 vs. 2.19 ± 0.63 vs. 2.1 ± 0.58 vs. 1.67 ± 0.47 vs. 1.31 ± 0.4 vs. 1.18 ± 0.34 vs. 0.94 ± 0.26 mgI/mL for the stomach, duodenum, jejunum, ileum, right colon, left colon and rectum, respectively; P

Published
2023
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38. Test Methodology for Short-Circuit Assessment and Safe Operation Identification for Power SiC MOSFETs

Author

Joao Oliveira, Jean-Michel Reynes, Hervé Morel, Pascal Frey, Olivier Perrotin, Laurence Allirand, Stéphane Azzopardi, Michel Piton, and Fabio Coccetti

Subjects
SiC MOSFET, short circuit, test methodology, failure analysis, Technology
Abstract

The short-circuit (SC) immunity of power silicon carbide (SiC) MOSFETs is critical for high-reliability applications, where robust monitoring and protection strategies are essential to ensure system safety. Despite their superior voltage blocking capabilities and high energy efficiency, SiC MOSFETs exhibit greater sensitivity to SC-induced degradation compared to their silicon counterparts. This increased vulnerability necessitates the precise assessment of the key SC performance metrics, such as short-circuit withstand time (TSCWT), as well as a deeper understanding of the failure mechanisms. In this study, a comprehensive experimental methodology for evaluating the SC behavior of SiC MOSFETs is presented and validated using industrial references. The investigation further explores the concept of a Safe Operating Area (SOA) under SC conditions, highlighting the significant impact of quasi-simultaneous SC events on device lifetime. Additionally, an application case study demonstrates how these events can drastically reduce the device’s lifespan.

Published
2024
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39. RNA variant assessment using transactivation and transdifferentiation

Author

Azmanov, Dimitar N., Barnett, Christopher P., Barry, Simon C., Baynam, Gareth, Berkovic, Samuel F., Christodoulou, John, Coman, David J., Cooper, Sandra, Corbett, Mark A., Delatycki, Martin, Dudding, Tracy E., Fletcher, Sue, Gardner, Alison E., Gecz, Jozef, Higgins, Megan J., Hildebrand, Michael S., Jolly, Lachlan A., Lister, Ryan, McGaughran, Julie, Pflueger, Christian, Poulton, Cathryn, Roscioli, Tony, Hamish S. Scott, Ingrid Scheffer, Sinclair, Andrew H., Spurdle, Amanda B., Tan, Tiong Y., van Eyk, Clare L., Voineagu, Irina, Nicolas-Martinez, Emmylou C., Robinson, Olivia, Gardner, Alison, Ritchie, Tarin, Kroes, Thessa, Scheffer, Ingrid E., Barnier, Jean-Vianney, Rousseau, Véronique, Genevieve, David, Haushalter, Virginie, Piton, Amélie, Denommé-Pichon, Anne-Sophie, Bruel, Ange-Line, Nambot, Sophie, Isidor, Bertrand, Grigg, John, Gonzalez, Tina, Ghedia, Sondhya, Marchant, Rhett G., Bournazos, Adam, Wong, Wui-Kwan, Webster, Richard I., Evesson, Frances J., Jones, Kristi J., and Cooper, Sandra T.

Published
2024
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41. Listeria monocytogenes-associated spontaneous bacterial peritonitis in France: a nationwide observational study of 208 cases

Author

Abdou, Mohamed, Abdulhai, Ayman, Abdulhal, Ayman, Abel, Samy, Abergel, Armand, Aberrane, Saïd, Abraham, Bruno, Adler, Maxime, Agard, Christian, Agha-Mir, Ilhem, Aguilar, Claire, Agulles, Baptiste, Aldallal, Hamza, Alric, Laurent, Amiot, Xavier, Andrau, Pierre, Andrieux, Vladimir, Ansart, Séverine, Anty, Rodolphe, Archambeaud, Isabelle, Arem, Samir, Armand, Laurence, Aubailly, Lucie, Audibert, Juliette, Auguereau, Olivier, Auvray, Christelle, Aziz, Karime, Bachelier, Marie-Nadège, Bacquaert-Dufour, Karine, Badet, Françoise, Bahallah, Mohamed-Larbi, Balanant, Hélène, Baraduc, Régine, Bardis, Alexandre, Barraud, Olivier, Barrier, Jocelyn, Baudet, Antoine, Baumert, Thomas, Beaugerie, Laurent, Bébéar, Cécile, Becheur, Hakim, Bemer, Pascale, Benard, Caroline, Benezet, Marie-Pierre, Benmahammed, Mohammed, Bennouna, Jaafar, Benseddik, Zehaira, Bensimon, Pierre-Yves, Bental, Abdeslam, Berete, Aliou, Bergier, Jean-Michel, Berkani, Wacila, Bernardi, Franck, Bert, Frederic, Bertrou, Anne, Beuret, Pascal, Beurton-Chataigner, Isabelle, Beuscart, Claude, Beusnel, Christine, Bevilacqua, Sibylle, Beze, François, Bideau, Karine, Bidegain, Frédéric, Billon, Laura, Blaison, Gilles, Blanc, Michèle, Blanc, Pierre, Blanchi, Sophie, Blancho, Gilles, Bland, Stephane, Blondeau, Vincent, Boldron, Amale, Bon, Djemah, Bonacorsi, Stéphane, Bonzon, Lucas, Borderon, Anaïs, Botelho-Nevers, Elisabeth, Bottlaender, Jacques, Bouc-Boucher, Mathilde, Bouchaud, Olivier, Bougon, David, Boukelikha, Khaled, Bourlet, Thomas, Boussoukaya, Samy, Boutaleb, Hamza, Bouziges, Nicole, Bray, Philippe, Bréchet, Caroline, Bret, Laurent, Brieu, Nathalie, Briffaut, David, Brochet, Christine, Brulez-Des-Varannes, Stanislas, Brunel, Valéry, Brung-Lefebvre, Maud, Bureau, Christophe, Burucoa, Christophe, Buscail, Louis, Buzele, Rodolphe, Cadot, Catherine, Cadranel, Jean-Francois, Cady, Anne, Caillon, Jocelyne, Camiade, Sabine, Campillo, Bernard, Carbonnel, Franck, Carbonnelle, Etienne, Cardot-Martin, Émilie, Cariou, Marie-Estelle, Carles, Michel, Caron, Francois, Carrara-Delarue, Lucrecia, Carrier, Paul, Castang, Céline, Castellano, Inès, Cattoir, Vincent, Caubet, Olivier, Causse, Xavier, Chabrol, Amélie, Chanard, Emmanuel, Chatagnon, Thomas, Chazouilleres, Olivier, Chedanni, Halima, Chevrel, Pauline, Chirol, Catherine, Chirouze, Catherine, Chouquer, Renaud, Clavière, Christophe, Codreuil, Sylvain, Colardelle, Philippe, Combarnous, François, Commeau, Grégory, Cornillet, Anne, Corvec, Stephane, Costa, Yannick, Couderc, Philippe, Couffon, Caroline, Courivaud, Cécile, Courtade, Henri, Cruchant, Etienne, Cuen, David, Culard, Jean-François, Cung, Hong Ahn, Dahyot, Sandrine, D'Altéroche, Louis, Dao, Manh Thông, Darfeuil, Fabien, Darnaud, Céline, Daure, Sophie, De Grossouvre-Taillefer, Ludivine, Debriel, Dominique, Debrueres, Jacques, Decaens, Thomas, Decambron, Audrey, Decre-Grapinet, Dominique, Degand, Nicolas, Dehaye, Bruno, Delacour, Thierry, Delarbe, Jean-Marie, Delobel, Pierre, Delpierre, Éric, Delrez, René, Delvert, Didier, Demartino, Sylvie, Deniel, Marie-Clémence, Denis, Bernard, Derumeaux, Guy, Desroches, Marine, Dessein, Rodrigue, Devillez, Simon, Deweerdt, Didier, Diamantis, Sylvain, Diaz, Emmanuel, Didier, Raffenot, Dimartino, Vincent, Dion, Ludivine, Djemai, Mohand, Doche, Christophe, Donascimento, Maud, Dorval, Ian, Douala, Carol, Doucet-Populaire, Florence, Drouillat, Valérie, Dubée, Vincent, Dudermel, Anne-France, Dumont, Betty, Dupin, Clarisse, Dupont, Mathieu, Dupont, Philippe, Dupuy, Marion, Dupuychaffray, Jean-Pierre, Durand, Francois, Dusser, Pascale, Duval, Valérie, Duveau, Nicolas, El-Azouzi, Abdelghani, El-Gharras, Hynd, Elsendoorn, Antoine, Emile, Loïc, Epaulard, Olivier, Etchepare, Nicolas, Etienne, Jean-Pierre, Eveillard, Mathieu, Evers, Annie, Fach, Joelle, Faizoun, Claudia, Fangous, Marie-Sarah, Farmachidi, Jean Pierre, Fatome, Armelle, Faulques, Bernard, Faure, Karine, Felix, Charlotte, Ferec, Marc, Ferey, Janine, Ferracci, Serge, Feryn, Jean-Marc, Fesler, Pierre, Fiette, Hélène, Flevin, Emilie, Floch, Pauline, Fort, Eric, Fortineau, Nicolas, Fourcade, Jacques, Fraissinet, François, Franck, Patricia, Françoise, Thiebaut, Fratte, Serge, Galempoix, Jean-Marc, Garcera, Yves, Garcia, Anne, Garcon, Pierre, Garret, Charlotte, Gayet, Clement, Gazeau, Pierre, Gerber, Florence, Gilles, Raclot, Gillot, Jean-Michel, Goarant, Eric, Godreuil, Sylvain, Goret, Julien, Gorret, Julie, Goujard, Cecile, Goulenok, Thiphaine, Gournay, Jérôme, Gousseff, Marie, Goux, Alain, Graf, Emmanuelle, Grange, Jean-Didier, Gravet, Alain, Greder-Belan, Alix, Gronier, Olivier, Grosset, Marine, Guellouz, Sabra, Guenenna, Dalida, Guerbaa, Mohammed, Guerin, Meggie, Guerrot, Dominique, Guery, Benoit, Gugenheim, Jean, Guidet, Bertrand, Guiheneuf, Raphael, Guillet-Caruba, Christelle, Guimard, Yves, Guinard, Jérome, Guindre, Laure, Hagege, Albert, Hagege, Hervé, Haineaux, Paul-Arthur, Hamon, Rémy, Hassan, Firas, Hassine, Mélanie, Helie, Ludovic, Herber-Mayne, Anne, Hervio, Pascale, Héry-Arnaud, Geneviève, Hitoto, Hikombo, Hubsch, Théophile, Hunaut, Nicolas, Hurtova, Monika, Husson-Wetzel, Stéphanie, Hutin, Pascal, Izopet, Théo, Jacob, Jean-Louis, Jacomet, Christine, Jaffar-Bandjee, Marie-Christine, Janvier, Fréderic, Jaulhac, Benoît, Jaureguiberry, Stephane, Javaud, Nicolas, Jeannot, Katty, Joundy, Noureddine, Kacem, Moez, Karama, Rouis, Karsenti, David, Kempf, Marie, Khatibi, Sarah, Kikolski, Florence, Kittirath, Christine, Koch, Stephane, Kouatchet-Achille, Tchamba, Krummel, Yves, La Combe, Karine, Labarriere, Damien, Laberenne, Jean-Eric, Lacroix, Hervé, Ladrat, Laure, Lagarde, Stéphanie, Lagasse, Jean-Paul, Laggoune, Ahmed-Saïd, Lambare, Benedicte, Landgraf, Nathalie, Landraud, Luce, Laude, Jean-Francois, Laurent, François, Lavigne, Jean-Philippe, Lavoue, Vincent, Le Berre, Rozenn, Le Goff, Vallérie, Lebars, Hervé, Lebrun, Armandine, Lecapitaine, Anne-Lise, Lechat, Sylvie, Lecoustumier, Alain, Ledreau, Gérard, Lefevre, Benjamin, Leflon, Véronique, Lefort, Agnès, Legall, Florence, Legoff, Isabelle, Legrand, Eric, Lehello, Simon, Le-Henaff-Bourhis, Catherine, Leleu, Olivier, Lelievre, Lucie, Lemaignen, Adrien, Lemaire, Xavier, Le-Maout, Charles, Lemblé, Chantal, Lemeille, Yolande, Lemenand, Olivier, Lemeunier, Violaine, Lemeur, Yannick, Lemierre, Sylvia, Leotard, Sophie, Lepileur, Lucie, Letellier-Demonchy, Claire, Levecq, Hervé, Levy, Marc, Limal, Nicolas, Locher, Christophe, Lopez, Benjamin, Loron, Marie-Charlotte, Loulergue, Joelle, Loury-Larivière, Isabelle, Loustaud-Ratti, Véronique, Macchi, Valèrie, Machado, Moise, Madaule, Serge, Mainardi, Jean-Luc, Males, Silvija, Malherbe, Philippe, Maneglier, Benjamin, Marceau, Maryline, Marcel, Kévin, Marmonier, Alain, Martha, Benoît, Martin, Xavier, Martin-Blondel, Guillaume, Martinez, Camille, Marty, Fabrice, Marty, Patrick, Matray, Olivier, Maurin, Arnaud, Mazerand, Sandie, Mazouz, Nadia, Medevielle, Muriel, Mercat, Alain, Méreghetti, Laurent, Merzoug, Noureddine, Meziane, Ilham, Michaud, Anthony, Michel, Marc, Michel, Pierre, Mignard, Sophie, Milesi-Lecat, Anne-Marie, Mion, Mathieu, Mnasri, Nabil, Mohareb, Abdo, Mohib, Samir, Moindrot, Henri, Monlun, Eric, Montewis, Audrey, Morin, Thierry, Moussata, Driffa, Muller, Sandrine, Muzellec, Valérie, Nancey, Stéphane, Nassereddine, Ahmad, Naude, Sebastien, Neau, Didier, Ovidiu, Negru Calin, Ngo, Thuy, Ngwhotue, Marthe-Andree, Nivet, Patrick, Nordmann, Patrice, Nousbaum, Jean-Baptiste, Nouvel, Bernadette, Obled, Stephane, Oswald, Eric, Otto, Marie-Pierre, Pageaux, Georges-Philippe, Papin, Gregory, Parant, Fabrice, Patenotte, Arnaud, Paupard, Thierry, Pauwels, Arnaud, Pawlotsky, Jean Michel, Pelloux, Hervé, Perlemuter, Gabriel, Peron, Jean-Marie, Pestel-Caron, Martine, Peter, Natasha, Petillon, Sophie, Petit, Richard, Petitprez, Helene, Pettinelli, Francois, Phelip, Jean Marc, Philit, Jean-Baptiste, Phoutthasang, Valérie, Pialoux, Gilles, Piau-Couapel, Caroline, Pichard, Benoit, Pichon, Maxime, Picon-Coste, Magali, Picque, Marie, Pierson, Henri, Piques, Jean Francois, Piton, Béatrice, Planade, Orianne, Plassart, Claire, Plésiat, Patrick, Ploy, Marie-Cécile, Poubeau, Patrice, Pouderoux, Philippe, Pouedras, Pascal, Pourbaix, Annabelle, Poynard, Thierry, Preau, Florence, Pricope, Dumitrita, Queffelec, Gwenaëlle, Queneherve, Lucille, Quentin, Thomas, Raffenot, Didier, Rakotoniaina, Daniella, Ramanantsoa, Celine, Ramarijaona, Solofoniaina, Rami-Arab, Lila, Raulin, Olivia, Rebibou, Jean Michel, Renault, David, Rey, Philippe, Riche, Agnès, Rigaud, Jean Philippe, Rivière, Antoine, Rivière, Brigitte, Robert, Jérôme, Roblot, Pascal, Roger, Helene, Rolland, Christophe, Rondinaud, Emilie, Rosa-Hezode, Isabelle, Roubille, Martine, Rouquette, Olivier, Roux, Juliette, Ruimy, Raymond, Sachot-Ollivier, Sonia, Sailler, Laurent, Salamant, Sarah, Sarbu-Pop, Silvia, Sartre, Jacques, Schmitt, François, Scribe-Outtas, Myriam, Sefrioui, David, Sehouane, Rachid, Sekhri, Hacène, Serfaty, Lawrence, Sevin, Odile, Shawali, Cédric, Siladi, Souad, Silvain, Christine, Simon, Mireille, Simonet, Batiste, Sinayoko, Leila, Sirach, Estelle, Smati, Mustafa, Smets, Aurélie, Soltani, Dhaoui, Sommabere, André, Soulier-Guerin, Karine, Soulillou, Jean Paul, Soupison, Alain, Souply, Laurent, Soussy, Claude-James, Stampfli, Claire, Strullu, Bernard, Suatean, Diana, Tadjerouni, Nacer, Talarmin, Jean-Philippe, Tankovic, Jacques, Tarroun, Abdullah, Tchuenbou, Juliette, Teboul, Jean-Louis, Tedlaouti, Husni, Tellini, Charlotte, Thabut, Dominique, Thannberger, Philippe, Thiebault, Henri, Thiebaut, Françoise, Thomazeau, Joséphine, Tielman, Guillaume, Timsit, Jean-Francois, Tognon, Patrick, Tougeron, David, Toure, Fatouma, Tran, Albert, Tranvouez, Jean-Luc, Trésallet, Christophe, Trubert, Lise, Tsakiris, Laurent, Twizeyimana, Eterne, Vachee, Anne, Valade, Hélène, Valat, Isabelle, Vandendriessche, Anne, Vandermee, Nathalie, Vanheste, Marc, Varon, Emmanuelle, Vasse, Marc, Vasseur, Philippe, Vaucel, Elisabeth, Vauthier, Anne, Verdavaine-Loidreau, Delphine, Verdet, Charlotte, Verdon, Renaud, Vergnaud, Michel, Véziris, Nicolas, Vignaud, Guillaume, Viguier, Jérôme, Villemain, Marc, Villeneuve, Laurent, Vimont-Vicary, Alexandre, Vincent, Thomas, Vuillemenot, Jean-Baptiste, Walewski, Violaine, Warmoes, Elodie, Watry, Hélène, Weber, Jean-Christophe, Witz, Marie Thérèse, Woerther, Paul-Louis, Yazdanpanah, Yazdan, Zamfir, Oana, Zarka, Jonathan, Zavadil, Patrick, Zeboudj, Nabil, Zerbib, Franck, Blanchard, Florian, Henry, Benoît, Vijayaratnam, Sofieya, Canouï, Etienne, Moura, Alexandra, Thouvenot, Pierre, Bracq-Dieye, Hélène, Tessaud-Rita, Nathalie, Valès, Guillaume, Diakité, Andrée, Leclercq, Alexandre, Lecuit, Marc, and Charlier, Caroline

Published
2024
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43. Penetrance, variable expressivity and monogenic neurodevelopmental disorders

Author

de Masfrand, Servane, Cogné, Benjamin, Nizon, Mathilde, Deb, Wallid, Goldenberg, Alice, Lecoquierre, François, Nicolas, Gaël, Bournez, Marie, Vitobello, Antonio, Mau-Them, Frédéric Tran, le Guyader, Gwenaël, Bilan, Frédéric, Bauer, Peter, Zweier, Christiane, Piard, Juliette, Pasquier, Laurent, Bézieau, Stéphane, Gerard, Bénédicte, Faivre, Laurence, Saugier-Veber, Pascale, Piton, Amélie, and Isidor, Bertrand

Published
2024
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47. Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Author

Leitão, Elsa, Schröder, Christopher, Parenti, Ilaria, Dalle, Carine, Rastetter, Agnès, Kühnel, Theresa, Kuechler, Alma, Kaya, Sabine, Gérard, Bénédicte, Schaefer, Elise, Nava, Caroline, Drouot, Nathalie, Engel, Camille, Piard, Juliette, Duban-Bedu, Bénédicte, Villard, Laurent, Stegmann, Alexander PA, Vanhoutte, Els K, Verdonschot, Job AJ, Kaiser, Frank J, Tran Mau-Them, Frédéric, Scala, Marcello, Striano, Pasquale, Frints, Suzanna GM, Argilli, Emanuela, Sherr, Elliott H, Elder, Fikret, Buratti, Julien, Keren, Boris, Mignot, Cyril, Héron, Delphine, Mandel, Jean-Louis, Gecz, Jozef, Kalscheuer, Vera M, Horsthemke, Bernhard, Piton, Amélie, and Depienne, Christel

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Brain Disorders, Mental Health, Intellectual and Developmental Disabilities (IDD), Biotechnology, Autism, Human Genome, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Mental health, Humans, Chromosomes, Human, X, Genes, X-Linked, Intellectual Disability, Autism Spectrum Disorder, Databases, Genetic
Abstract

Disease gene discovery on chromosome (chr) X is challenging owing to its unique modes of inheritance. We undertook a systematic analysis of human chrX genes. We observe a higher proportion of disorder-associated genes and an enrichment of genes involved in cognition, language, and seizures on chrX compared to autosomes. We analyze gene constraints, exon and promoter conservation, expression, and paralogues, and report 127 genes sharing one or more attributes with known chrX disorder genes. Using machine learning classifiers trained to distinguish disease-associated from dispensable genes, we classify 247 genes, including 115 of the 127, as having high probability of being disease-associated. We provide evidence of an excess of variants in predicted genes in existing databases. Finally, we report damaging variants in CDK16 and TRPC5 in patients with intellectual disability or autism spectrum disorders. This study predicts large-scale gene-disease associations that could be used for prioritization of X-linked pathogenic variants.

Published
2022

50. Economic Assessment of Nature-Based Solutions for Water-Related Risks

Author

Le Coent, Philippe, Hérivaux, Cécile, Calatrava, Javier, Marchal, Roxane, Moncoulon, David, Benítez Ávila, Camilo, Altamirano, Mónica, Gnonlonfin, Amandine, Douai, Ali, Piton, Guillaume, Dartée, Kieran, Biffin, Thomas, Arfaoui, Nabila, Graveline, Nina, López-Gunn, Elena, editor, van der Keur, Peter, editor, Van Cauwenbergh, Nora, editor, Le Coent, Philippe, editor, and Giordano, Raffaele, editor

Published
2023
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