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The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis
No full textInternational audienceBackground: Epileptic disorders are a heterogeneous group of neurological conditions, with many cases linked to monogenic causes, particularly in developmental and epileptic encephalopathies (DEE). Identifying pathogenic variants aids treatment, prognosis, and family planning. In France, genetic testing is coordinated through the EpiGene network.Methods: We analyzed clinical and genetic data from 2563 epilepsy patients referred to four diagnostic labs (2016-2023). Epilepsy syndromes were classified via pre-test questionnaires, and genotyping used various gene panels, including a 68-gene core panel. Multivariate logistic regression assessed diagnostic rates and genotype-phenotype correlations.Results: Overall, 27.0% of patients had pathogenic/likely pathogenic variants, mainly within the core panel (24%). SCN1A and KCNQ2 were the most frequently mutated genes. Diagnostic yield varied by syndrome, with Dravet Syndrome Spectrum (DSS) and early-infantile DEE (EIDEE) showing the highest rates (41% and 34%, respectively). Genetic heterogeneity differed across syndromes, from DSS (predominantly SCN1A) to Infantile Epileptic Spasms Syndrome (IESS, 12%), involving ≥ 26 genes. Outside DEE, self-limited neonatal epilepsy (SeLNE) had the highest yield (50%). Earlier seizure onset was associated with a higher likelihood of a positive molecular diagnosis, whereas intellectual disability severity and drug resistance were not independently predictive of diagnostic outcome. Genotype-phenotype correlations highlighted that objective clinical data (e.g., age of onset) can outperform syndrome labels (e.g., EIDEE) in predicting diagnosis.Conclusion: This large cohort study refines the genetic landscape of epilepsy, informs classification challenges, and enhances genetic testing strategies, ultimately improving patient care and future research directions
Le test au vert d’indocyanine réduit-il le risque de désunion anastomotique en chirurgie colorectale ?
No full textInternational audienceIntroductionIn colorectal surgery, assessment of the vascularization of the intestinal segments to be anastomosed by injection of indocyanine green (ICG) is one of the intra-operative measures to decrease the risk of anastomotic leak (AL). The aim of this evidence-based review was to evaluate the effectiveness and utility of this measure.MethodWe conducted a comprehensive literature review in electronic databases (PubMed, Scopus, Cochrane Library), coupled with a manual search. Only randomized trials and meta-analyses were included. The primary outcome measure was clinical AL (grade B and C according to the International Study Group of Rectal Cancer).ResultsA total of eight randomized trials and three meta-analyses were included. The conclusions of the three meta-analyses consistently showed a reduction in the risk of AL (by one-third in the most recent meta-analyses). However, the conclusions of the eight trials (especially those with the larger sample sizes) were discordant regarding colonic surgery (excluding rectal resection). In subgroup analysis, recent trials showed no difference in AL in favor of ICG for right colectomy, and data on left colonic or rectal surgery, although discordant, suggested that the benefit of ICG, although not statistically significant, was clinically relevant in the majority of studies.ConclusionAccording to currently available evidence, the use of ICG does not appear to be useful for right colectomies. However, the usefulness of ICG in left-sided colectomies and rectal resections is probable, although not formally proven.IntroductionEn chirurgie colorectale, l’évaluation de la vascularisation des segments intestinaux à anastomoser, par l’injection de vert d’indocyanine (VIC) fait partie des mesures de prévention peropératoire des désunions anastomotiques (DA). Le but de cette revue de la littérature factuelle (evidence-based review) était d’évaluer l’efficacité et l’utilité de cette mesure.MéthodeUne revue exhaustive de la littérature a été menée dans les bases de données électroniques (Pubmed, Scopus, Cochrane Library), et couplée à une recherche manuelle. Seuls étaient retenus les essais randomisés et les méta-analyses. Le critère de jugement principal était les DA cliniques (grade B et C d’après l’International Study Group of Rectal Cancer).RésultatsAu total 8 essais randomisés et 3 méta-analyses étaient retenus. Les conclusions des 3 méta-analyses étaient concordantes et montraient une réduction du risque de DA (d’un tiers dans les méta-analyses les plus récentes). En revanche, les conclusions des 8 essais (surtout ceux ayant les plus importants effectifs) étaient discordantes concernant la chirurgie colique (résection rectale exclue). En analyse de sous-groupes, les essais récents ne montraient pas de différence en faveur du VIC en cas de colectomie droite et les données sur la chirurgie colique gauche ou rectale quoique discordantes suggéraient que le bénéfice du VIC était statistiquement non significatif mais cliniquement pertinent dans la majorité des études.ConclusionSelon les données factuelles actuellement disponibles, l’utilisation du VIC ne semble pas être utile pour les colectomies droites. Mais, l’utilité du VIC dans les colectomies gauches et les résections rectales est probable bien que non formellement démontrée
Trouble de l’usage des opioïdes et traitement de substitution en post-partum : accompagnement des professionnels de santé
No full textIntroduction: the post-partum period is a vulnerable time for women, particularly those suffering from OUD or on OST, who are at greater risk of relapse and depression. Midwives may encounter these women during pregnancy or in the post-partum period. The main aim of this study was to explore the support provided by healthcare professionals, particularly midwives, to post-partum women suffering from OUD or on OST. Method: this was a descriptive and interpretative qualitative study in which the various healthcare professionals exposed to women suffering from OUD or on OST during the post-partum period were interviewed using semi-structured interviews. Results and Discussion: the study highlighted the essential points in the follow-up of a patient suffering from OUD or on OST during the post-partum period. A benevolent approach with a bond of trust and multidisciplinary follow-up considering psychosocial vulnerabilities was necessary. Obstacles were identified, including a lack of training and detection of addictions and insufficient coordination between the various healthcare providers. The data collected were in line with the literature, particularly regarding the risk of relapse and post-partum depression, and the perceived lack of training for carers. Conclusion: although there has been some progress around addiction, training and coordinated follow-up with better communication between facilities are still needed to meet the needs of women suffering from OUD or on OST.Introduction : le post-partum est une période de vulnérabilité pour les femmes, en particulier pour celles souffrant de TUO ou TSO qui sont plus à risque de rechute et de dépression. Les sages-femmes pourraient être amenées à rencontrer ces femmes pendant la grossesse ou en post-partum. L’objectif principal de cette étude était d’explorer l’accompagnement des professionnels de santé notamment des sages-femmes, chez les femmes en post-partum souffrant de TUO ou sous TSO. Méthode : il s’agissait d’une étude qualitative de type descriptif et interprétatif où les différents professionnels de santé exposés aux femmes souffrant de TUO ou sous TSO pendant le post-partum ont été interrogés à partir d’entretiens semi-dirigés. Résultats et Discussion : l’étude a mis en évidence les points essentiels du suivi d’une patiente souffrant de TUO ou sous TSO pendant le post-partum. Une approche bienveillante avec un lien de confiance et un suivi multidisciplinaire en prenant en compte les vulnérabilités-psychosociales était nécessaire. Des obstacles ont été mis en évidence : un manque de formation et de repérage des addictions ainsi qu’une coordination insuffisante entre les différents acteurs du soin. Les données recueillies étaient en accord avec la littérature notamment sur le risque de dépression du post-partum, de rechute, ainsi que le sentiment de manque de formation des soignants. Conclusion : bien qu’une évolution au niveau des addictions ait été constatée, des formations et un suivi coordonné avec une meilleure communication entre les structures, restent nécessaire afin de répondre aux besoins des femmes souffrant de TUO ou sous TSO
Rethinking Lower Limb Peripheral Artery Disease Management Through Digital Therapeutics: A PESTEL and SWOT/TOWS Analyses
No full textInternational audienceBackground: Lower limb peripheral artery disease (PAD) is a prevalent, debilitating vascular condition associated with high morbidity, mortality, and healthcare costs. Despite established pharmacological, lifestyle, and interventional therapies, suboptimal adherence limits its effective management. Digital therapeutics (DTx) has emerged as innovative tools able to support patients in the management of their disease. Our objective was to identify the key elements for developing a DTx to prevent poor outcomes in PAD in France.Methods: A structured review was performed using Political, Economic, Sociocultural, Technological, Environmental, Legal (PESTEL) and Strengths, Weaknesses, Opportunities, Threats (SWOT)/Threats, Opportunities, Weaknesses, Strengths (TOWS) frameworks. This review evaluated macro-environmental drivers, systemic constraints, and implementation opportunities.Results: The PESTEL analysis highlighted major challenges: limited preventive strategies, underdeveloped ambulatory care, shortages of healthcare professionals, complex reimbursement processes, and significant economic and environmental burdens. Opportunities included supportive policy initiatives for DTx, technological readiness for telemonitoring, and growing public interest in accessible digital solutions. The SWOT/TOWS analysis identified DTx as strategically positioned to improve adherence, facilitate outpatient pathways, reduce administrative workload, and mitigate workforce constraints. Key design features identified patient education, behavioral nudges, multimodal data inputs, and nurse-led follow-up.Conclusion: PESTEL and SWOT/TOWS analyses provide a structured, context-specific framework for developing a PAD-focused DTx. The tool should improve adherence, reduce hospitalizations, and align with public health goals of prevention, efficiency, and sustainability. Further clinical evaluation is needed to confirm real-world value. This approach may also serve as a model for PAD-focused DTx in other countries or DTX targeting other chronic cardiovascular diseases
L’implémentation des Infirmiers en Pratique Avancée (IPA) dans les établissements publics de santé, une opportunité d’innovation managériale et organisationnelle hospitalière ?
No full textOver the past 20 years, changes in health demographics (an aging population and an increase in chronic diseases) and difficulties in accessing healthcare in certain areas have led to a paradigm shift in the healthcare system. The patient care pathway is now the preferred approach for regulating access to specialized care and better controlling healthcare spending. This reinforces the importance of multi-professional and multidisciplinary collaboration and has led to the introduction of new actors to streamline patient pathways. Among them, the Advanced Practice Nurse (APN) marks a further step in the rise of nursing skills (clinical and organizational) and leadership. The thesis reveals that the organizational implementation of APNs in public hospitals is subject to several constraints, which are identified through an initial literature review and an exploratory (qualitative) survey. The research then suggests a managerial approach to the implementation process and proposes to examine it through the lens of research on managerial and organizational innovation. This approach leads to the development of an enriched organizational implementation model, complementary to the already established operational approach (the PEPPA model), whose transposability to the hospital context is verified in a confirmatory survey. It positions the hospital middle manager (the nurse manager) as an essential actor in the deployment of APN.Ces vingt dernières années, les évolutions de démographie sanitaire (vieillissement de la population et progression des pathologies chroniques), et les difficultés d’accès aux soins sur les territoires, ont mené le système de santé à changer de paradigme. Le parcours de soins du patient constitue dorénavant l’approche privilégiée pour réguler l’accès aux soins spécialisés et mieux maitriser les dépenses de santé. Elle renforce les enjeux de la collaboration pluriprofessionnelle et pluridisciplinaire, et conduit à l’introduction de nouveaux acteurs pour fluidifier les parcours patients. Parmi eux, l’Infirmier en Pratique Avancée (IPA) marque une étape supplémentaire de la montée des compétences (cliniques et organisationnelles) et du leadership infirmiers. La thèse révèle que l’implémentation organisationnelle de l’IPA dans les hôpitaux publics est soumise à plusieurs contraintes, qu’une première revue de littérature et une enquête exploratoire (qualitative) permettent d’identifier. La recherche suggère ensuite une approche managériale du processus d’implémentation, et propose de le considérer par le courant de recherche sur l’innovation managériale et organisationnelle. Cette approche mène à l’élaboration d’un modèle organisationnel d’implémentation enrichi, complémentaire de l’approche opérationnelle (le modèle PEPPA) déjà établie, dont la transposabilité au contexte hospitalier est vérifiée lors d’une enquête confirmatoire. Il positionne le middle manager hospitalier (le cadre de santé) comme un acteur essentiel du déploiement de l’IPA
Effects of face-to-face and remote Tai Chi in stable axial spondyloarthritis: a pilot randomised controlled trial
No full textInternational audienceTo investigate the effects of a Tai Chi (TC) programme (hospital-based or remote) on total physical activity (PA) time in patients with axial spondyloarthritis (axSpA ). Between January 2019 and July 2021, patients with stable AS (BASDAI <= 40/100 or symptoms at an acceptable level, within the last six months) were enrolled in a four-month parallel, two-arm pilot study. Participants were randomised to either the immediate Tai Chi group (ITG), starting face-to-face TC immediately after enrolment for a duration of 4 months, or to the waiting list control group (WLCG), which started a 2 month face-to-face TC programme 2 months after enrolment. Due to COVID-19 pandemic, courses were delivered remotely using the same protocol after a lockdown period. Total enrolment was 40, including 20 in the hospital-based TC and 20 in the remote TC sub-study. Intention-to-treat analysis of all population demonstrated a significantly higher level of PA at month 2 in the ITG compared to the WLCG including hospital-based and remote TC (effect size: 0.19, 95% CI: 0.01 to 0.37, p = 0.04). These results were maintained at month 4. Patient Global Assessment (PGA) was improved at month 2 in both ITG (p < 0.05). There were no significant between-group differences in physical, psychological, and clinical outcomes. However, within-group analyses showed that TC had beneficial effects on endurance, lower limb strength, leg balance, shoulder and wrist mobility, PGA, and coping. There was no significant difference in total PA between remote and hospital-based TC at month 2. Both remote and hospital-based TC increased total PA in patients with axSpA. Trial registration: The study was registered on ClinicalTrials.gov (https://clinicaltrials.gov/study/NCT04700150) prior to starting enrolment
Towards the identification of markers in the fibromyalgia syndrome
No full textInternational audienceBackground and aims: The identification of clinical clusters and biomarkers could allow a better medical care of patients suffering from fibromyalgia (FM), but data are still heterogeneous and markers are missing. Our aim was to identify in a cohort of FM patients, clinical clusters and microRNAs expression in order to unveil possible correlations and guide towards specific markers.Methods: A case-control study (NCT 04624581) was conducted at the Clermont-Ferrand University Hospital in 109 FM and 28 healthy volunteers (HV). Pain evaluation and exploration, questionnaires and blood samplings were performed; microRNAs were extracted using Qiagen miRNeasy serum/plasma kit and the sequencing was performed.Results: Two epigenetic groups were identified in FM patients. FM1 n=46 and FM2 n=63. FM1 versus HV displayed 9 down- and 1 up-regulated microRNAs; FM1 versus FM2 16 down- and 53 up-regulated microRNAs; FM2 versus HV 2 down-regulated microRNAs (Fold Change (FC)>2; False Discovery Rate (FDR)<0.01). No significant clinical difference was shown between FM1 and FM2 patients. Three clinical clusters of mild, intermediate and severe FM were shown. The expression levels of two microRNAs: miR-4771 and miR-2115-3p, are significantly correlated with the Brief Pain Inventory daily life sub-score (r=-0.32 p=0.8x10-4 and r=0.23 p=0.02 respectively). miR-4771 expression decreases with increasing FM severity whereasmiR-2115-3p expression decreases with diminished FM severity.Conclusions: This study analyses for the first time the full sequencing of microRNAs in 109 FM patients with correlation on clinical clusters. These preliminary findings pave the way to the characterization of microRNAs and the impact of pain on daily life
Intraoperative PEEP setting: should we measure the lung or the patient?
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