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The Global Influenza Hospital Surveillance Network: A Multicountry Public Health Collaboration
No full textInternational audienceRespiratory viruses represent a significant public health threat. There is the need for robust and coordinated surveillance to guide global health responses. Established in 2012, the Global Influenza Hospital Surveillance Network (GIHSN) addresses this need by collecting clinical and virological data on persons with acute respiratory illnesses across a network of hospitals worldwide. GIHSN utilizes a standardized patient enrolment and data collection protocol across its study sites. It leverages pre-existing national infrastructures and expert collaborations to facilitate comprehensive data collection. This includes demographic, clinical, epidemiological, and virologic data, and whole genome sequencing (WGS) for a subset of viruses. Sequencing data are shared in the Global Initiative on Sharing All Influenza Data (GISAID). GIHSN uses financing and governance approaches centered around public-private partnerships. Over time, GIHSN has included more than 100 hospitals across 27 countries and enrolled more than 168,000 hospitalized patients, identifying 27,562 cases of influenza and 44,629 of other respiratory viruses. GIHSN has expanded beyond influenza to include other respiratory viruses, particularly since the COVID-19 pandemic. In November 2023, GIHSN strengthened its global impact through a memorandum of understanding with the World Health Organization, aimed at enhancing collaborative efforts and data sharing for improved health responses. GIHSN exemplifies the value of integrating scientific research with public health initiatives through global collaboration and public-private partnerships governance. Future efforts should enhance the scalability of such models and ensure their sustainability through continued public and private support
Acid sphingomyelinase deficiency: Laboratory diagnosis, genetic and epidemiologic aspects of a 50-year French cohort
No full textInternational audienceObjectives: Laboratory diagnosis of acid sphingomyelinase (ASM) deficiency (ASMD) was implemented in France in the early 1970s. The aims of this study were (i) to review the combined use of successively developed strategies - enzyme measurement, genetic testing, and biomarkers analysis - and (ii) to describe the mutational spectrum and epidemiological characteristics of a large patient cohort followed in French hospitals.Results: During the 1974-2023 period, 271 patients with ASMD (238 families) were diagnosed. The chronic visceral form (historical Niemann-Pick type B) constituted 68 % of the cases, the infantile neurovisceral (type A) form 23 %, and the chronic neurovisceral (type AB) form 9 %. Profoundly deficient ASM activities were constantly observed in the neuronopathic forms. Elevated plasma concentrations of LysoSM and LysoSM-509/PPCS proved useful to comfort interpretation of ASM activities near cut-off found in leukocytes or dried blood spots of some patients with ASMD type B. Although not specific, LysoSM-509/PPCS appeared as the most sensitive biomarker. The spectrum of SMPD1 variants was investigated in 183 families. A total of 93 different SMPD1 variants (26 novel ones) was identified (58 % missense, 19 % frameshift, and 12 % nonsense ones). The proportion of null variants was much larger in ASMD type A (63 %) than in type B (24 %). In type AB, c.1177 T > G (p.Trp393Gly) contributed 32 % of the mutant alleles, most patients having Romani or Northwestern-Balkanic roots, while c.880C > A (p.Gln294Lys) only accounted for 9 %. Homoallelic variants in neuronopathic patients allowed genotype/phenotype correlations. In type B, c.1829_1831delGCC (p.Arg610del) represented 57 % of alleles, with a wide diversity of other variants. Among type B families, approximately one-third had a North African origin, and this variant accounted for 91 % alleles in this subgroup, compared to 40 % in non-North-African families. In patients homozygous for p.Arg610del (n = 69), the age at biological diagnosis was significantly higher (34.0 years; IQR 7.4-45.3) than in patients with either one (n = 41) [4.3 years; IQR 2.77-18.30] or no such allele (n = 43) [6.3 years; IQR 2.2-31.7]. A further observation was the proportional increase in the number of type B patients diagnosed after the age of 30 years since 2015. This nearly complete national cohort allowed a tentative evaluation of (minimal) incidences at birth as follows: ASMD (all clinical forms): 0.70/100,000; type B: 0.48/100,000; neuronopathic types (A and AB): 0.22/100,000.Conclusions: This comprehensive cohort (i) summarizes the real-life experience of laboratory diagnosis of ASMD in two expert centres, (ii) confirms the high frequency of the p.Arg610del allele in France and discloses some characteristics of patients homozygous for this variant; (iii) provides for the first time data on the distribution, mutational spectrum and tentative incidence at birth of the three clinical phenotypes of ASMD in France
Cardiogenetics and uncertainty: Evaluation of professional vulnerability in France
No full textInternational audienceScientific advances in genomics are transforming healthcare and prevention. However, they also increase situations of uncertainty, which in turn increase vulnerability not only for patients and their families but also for professionals. Cardiogenetics plays a crucial role in preventing sudden death in young individuals, but it can pose complex challenges for healthcare teams. To study professionals' perspectives and experiences regarding cardiogenetics-related vulnerability, a national online survey was conducted in France to gather insight from professionals involved in the care pathway of individuals with cardiogenetic conditions. The survey targeted clinical geneticists, genetic counselors, cardiologists, nurses, and psychologists, in collaboration with the CARDIOGEN network. Out of 86 respondents, the majority (64%) reported experiencing vulnerability, which was not correlated with their profession, experience, or the organization of their clinics. Acknowledged vulnerabilities were mainly related to uncertainties regarding incomplete penetrance, variable expression, and genotype-phenotype disparities in cardiogenetics, exacerbated by the evolving interpretation of genetic data, due to the increased access to genomics. Additionally, the implications of these issues, particularly in cases of unexplained sudden deaths that necessitated genetic investigations and family follow up recommendations, raised further concerns. The reported vulnerabilities encompassed both the need for specialized knowledge and the structural complexities of teams combining skills in genetics and cardiology. In addition, the professionals' capacity to empathize can add a degree of vulnerability. Finally, it seems important to focus on how cardiogenetics teams are organized, particularly through close collaboration among genetics and cardiology units, which could help reduce this feeling of vulnerability
Concours national 2025 de la sous-section 48-01 du CNU Santé « Anesthésie-Réanimation et Médecine Périopératoire » : portraits et parcours d’une promotion riche en talents et en ambitions
No full textInternational audienceThe National Council of Universities (CNU) for Health, under the Ministry of Higher Education and Research, annually conducts competitive examinations to appoint associate professors (MCU-PH) and full professors (PU-PH) in medicine. In 2025, subsection 48-01 “Anesthesiology, Critical Care, and Perioperative Medicine” (ACCPM) evaluated 15 candidates (3 MCU-PH, 12 PU-PH) through a rigorous process. The selection includes an on-site visit by two appointed reviewers—assessing integration within the institution, scientific and educational contributions, and leadership, followed by a two-stage audition: presentation of the candidate's career and academic project, and an interactive discussion with the CNU panel. On the day of the examination, candidates also deliver a 20-minute teaching session and submit a previously prepared Objective Structured Clinical Examination (OSCE) station. The 2025 cohort reflects the breadth of ACCPM expertise: specialized anesthesia, surgical and general intensive care, perioperative medicine, and multidisciplinary leadership. Research themes span hemodynamic optimization, personalized cardiovascular medicine, prevention of organ dysfunction, translational and clinical neurosciences, high-fidelity simulation, allergo-anesthesia, trauma care, transplantation, pulmonary ischemia–reperfusion, sepsis immunology, and applications of artificial intelligence in critical care. These profiles also demonstrate a commitment to innovation in medical education, ethical practice, sustainable healthcare, and integrated care pathways. Collectively, they highlight the scientific vitality and strategic vision of ACCPM in France, an inherently interdisciplinary field dedicated to improving patient outcomes, advancing research, and training the next generation of perioperative and critical care specialists.Chaque année, le Conseil national des universités (CNU Santé) organise, sur instruction du ministère de l’Enseignement supérieur et de la Recherche, les concours de mise sur liste d’aptitude aux fonctions de maîtres de conférences et professeurs des universités – praticiens hospitaliers (MCU-PH, PU-PH). En 2025, la sous-section 48-01 « Anesthésiologie-Réanimation et Médecine Périopératoire » (ARMPO) a auditionné quinze candidats (3 MCU-PH, 12 PU-PH). Le concours est précédé d’une visite sur site par deux rapporteurs désignés, qui évaluent l’intégration au sein de l’établissement, les aptitudes scientifiques, pédagogiques et dans la conduite d’équipe du candidat. Le jour du concours, l’audition se déroule en deux étapes : présentation du parcours et du projet hospitalo-universitaire du candidat, puis échange avec le jury du CNU. Une épreuve de pédagogie (leçon de 20 minutes) et la rédaction préalable d’une station d’Examen clinique objectif structuré (ECOS) complètent l’évaluation. La promotion 2025 illustre la diversité et la richesse des profils : anesthésie spécialisée, réanimation chirurgicale et polyvalente, innovations pédagogiques, recherche translationnelle, intelligence artificielle, éthique clinique, organisation des soins et développement durable. Les projets couvrent des thématiques variées : optimisation hémodynamique, médecine personnalisée cardiovasculaire, prévention des dysfonctions d’organes, soins périopératoires intégrés, simulation haute-fidélité, neurosciences, allergo-anesthésie, traumatologie, transplantation, ischémie-reperfusion pulmonaire, immunologie du sepsis. À travers la présentation de ces parcours, la sous-section 48-01 témoigne de la vitalité scientifique, pédagogique et hospitalière de l’ARMPO en France, discipline à l’interface de multiples expertises et résolument tournée vers l’innovation, la collaboration interdisciplinaire et la formation des générations futures
Long-read sequencing identifies aberrant fragmentation patterns linked to elevated cell-free DNA levels in cancer
No full textCirculating cell-free DNA (cfDNA) carries fragmentation patterns that serve as biomarkers of cancer, but standard sequencing approaches miss large portions of the fragment length spectrum. In addition to altered fragmentation patterns, cancer patients often have elevated levels of cfDNA, but the underlying mechanisms are not well understood. To address both questions, we analyzed cancer cases with elevated cfDNA levels using Oxford Nanopore (ONT) sequencing. Long-read ONT sequencing captures the full spectrum of cfDNA fragment lengths and enables cell type inference based on DNA methylation markers. One cohort included cases from several cancer types with elevated cfDNA levels, and a second consisted of patients from a single neuroendocrine cancer study. In each cohort, cases with the highest cfDNA levels showed either hypofragmentation (excess fragments of 1–4 kb) or hyperfragmentation (excess fragments <145 bp). Hypofragmentation reflected blood cell DNA released during delayed sample processing, bearing DNASE1L3-associated hallmarks, while in one cohort we also observed ultra-long fragments (>7.5 kb) lacking these hallmarks and consistent with plasma lysis. By contrast, hyperfragmented samples often had elevated levels of both cancer- and blood-derived DNA, indicating an inflammatory or other system process rather than cancer-specific origin. These findings clarify the distinction between biological and artifactual fragmentation, expand our understanding of cfDNA biology, and highlight long-read sequencing as a powerful tool for biomarker discovery
Construire aujourd’hui le laboratoire de biologie médicale durable de demain
No full textInternational audienceIn the face of climate emergency, medical biology laboratories (MBLs) must reconcile diagnostic performance, innovation, and environmental sustainability. Playing a crucial role in patient diagnosis and follow-up, MBLs have a significant ecological footprint due to their high energy consumption, extensive use of plastics, and substantial waste production, including hazardous materials classified as carcinogenic, mutagenic, reprotoxic, or radioactive. Still with the goal of continuing to contribute to patient care activities and improving the quality of care, this article provides an overview of concrete strategies and perspectives for reducing the ecological footprint of medical biology MBLs. Through practical examples and evidence-based recommendations, we aim to raise awareness among medical biologists and equip them with the necessary tools to integrate ecological transition into their daily practices.Face au dérèglement climatique, les laboratoires de biologie médicale (LBM) sont confrontés à la nécessité de réconcilier performance diagnostique, innovation et durabilité environnementale. Les LBM, qui jouent un rôle crucial dans le diagnostic et le suivi des patients, génèrent une empreinte écologique significative due à leur consommation énergétique, à l’utilisation massive de ressources et à la production importante de déchets (plastiques, biologiques, chimiques…) dont certains sont classés cancérogènes, mutagènes, reprotoxiques et radioactifs. Toujours avec l’objectif de continuer à participer activement à l’amélioration de la qualité de soins des patients, cet article propose un état des lieux des stratégies concrètes et perspectives de réduction de l’empreinte écologique des LBM. À travers des exemples pratiques et des recommandations fondées, nous visons à sensibiliser les biologistes médicaux sans les culpabiliser et à identifier des stratégies pour engager une transition écologique dans leurs pratiques quotidiennes
High-Sensitivity Troponin I Release After Aortic Surgery: A Mechanistic Approach with Contrast-Enhanced Magnetic Resonance Imaging (the MITEC Study)
No full textInternational audienceNo abstract availabl
Impact of prophylactic clipping on delayed bleeding after colorectal endoscopic submucosal dissection: a multicenter propensity score-matched study
No full textInternational audienceIntroduction: Clinically significant delayed bleeding (CSDB) is the most common complication after colorectal endoscopic submucosal dissection (ESD). The Limoges Bleeding Score (LBS) was recently developed to identify high-risk patients. The efficacy of prophylactic clipping in reducing CSDB remains debated. This study assessed the effectiveness of complete clip closure in preventing CSDB after colorectal ESD. Methods: A retrospective analysis of prospectively collected data from ten centers (2019–2022) was conducted. Epithelial colorectal lesions treated with ESD were included. Patients were categorized into closure and non-closure groups, compared using propensity-score matching (PSM) based on LBS factors (age >75, lesion size >50 mm, ASA III-IV, rectal location, anticoagulant/antiplatelet use). Subgroup analyses focused on anticoagulant users and high-risk patients (LBS 5–8). Environmental impact was estimated based on a representative sample. Results: Among 3,142 patients (1,199 closure, 1,943 non-closure), 216 (7%) developed CSDB, with no statistically significant difference (closure: 7.2% vs. non-closure: 6.7%; p = 0.656). PSM analysis (944 matched cases) confirmed no statistically significant difference in CSDB (7.73% vs. 5.72%; p = 0.098). Subgroup analyses in patients on anticoagulants and those at high-risk (LBS 5-8) showed no significant differences between the two groups (p = 0.39 and p = 0.73, respectively). Mean waste, and carbon footprint was 283.2 grams and 2.9 kg CO2 equivalents for single-use clips per closure (clip-to-lesion ratio: 0.8 clips/cm). Conclusions: In our cohort, prophylactic clipping did not significantly reduce CSDB following colorectal ESD, even in high-risk patients. Given its environmental impact and technical challenges, routine closure should be reconsidered
TSLP and Nasal Epithelium: A Missing Link in Tezepelumab's Mechanism
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