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PFMG2025–integrating genomic medicine into the national healthcare system in France
No full textInternational audienceIntegrating genomic medicine into healthcare systems is a health policy challenge that requires continuously transferring scientific advances into clinics and ensuring equal access for patients. France was one of the first countries to integrate genome sequencing into clinical practice at a nationwide level, with the ambition to provide more accurate diagnostics and personalized treatments. Since 2016, the French government has invested €239M in the 2025 French Genomic Medicine Initiative (PFMG2025) which has so far focused on patients with rare diseases (RD), cancer genetic predisposition (CGP) and cancers. PFMG2025 has addressed numerous challenges to set up an operational organizational framework. As of December the 31st 2023, 12,737 results were returned to prescribers for RD/CGP patients (median delivery time: 202 days, diagnostic yield: 30.6%) and 3109 for cancer patients (median delivery time: 45 days). PFMG2025's future priorities encompass ensuring economic sustainability, strengthening links with research, empowering patients and practitioners, and fostering collaborations with European partners.Funding As of December the 31st 2023, €239M have been invested by the French government.</div
Évaluation globale standardisée systématique des rhumatismes inflammatoires chroniques : intérêts et limites
No full textInternational audienceIntroduction: National and international recommendations call for an annual standardized systematic holistic review in the management of chronic inflammatory rheumatism (CIR). This includes an assessment of disease activity and severity, as well as patient education on the disease, knowledge of pharmacological and non-pharmacological treatments, adherence to treatment and screening for comorbidities. Our study aims to recall the definition of a holistic review (HR), to present the evidence of their effectiveness and to give an overview of HR practices in France. Methods: A literature review was conducted in the Pubmed database to identify randomized controlled trials (RCTs) or meta-analyses reporting the efficacy of a multidisciplinary intervention in ICR or other chronic diseases. Two online surveys were sent to all rheumatology departments in France and to a sample of independent rheumatologists, with 34 and 19 questions respectively. These questionnaires were used to determine the profile of the responding center/rheumatologist, the existence of an HR and the obstacles or facilitators to its implementation. Results: Literature search yielded 872 articles, 24 of which were finally included: 16 RCTs and 8 meta-analyses. Only 3 articles concerned ICRs, including one meta-analysis of 10 RCTs in rheumatoid arthritis (RA). Of these 3 studies, 2 RCTs in systemic lupus and systemic sclerosis showed a favorable impact of a multidisciplinary approach on SLEDAI and grip strength and mouth opening respectively, while the meta-analysis in RA showed no benefit on disability or disease activity. The questionnaire was answered by 72 centers and 186 rheumatologists. A third of the centers had already implemented a HR during a day hospitalization. Seventy percent of centers estimated that they managed more than 10 patients per month, devoting an average of 35 minutes of rheumatologist time and 90 minutes of cumulative time for all other healthcare professionals (HCPs) involved in the program. Most of the HCPs involved were nurses (92%), dieticians (56%) and physiotherapists (56%). The main obstacles to setting up a HR were the lack of paramedical resources, lack of economic value and lack of support from treating rheumatologists, while patient motivation was seen as a facilitating factor. Conclusion: Although HR is recommended, there is little evidence of its effectiveness in ICR. Only 36% of responding centers have implemented such a program. This survey helps to identify the obstacles and facilitators, and to find solutions for extending this practice.Introduction > Les recommandations nationales et internationales proposent la réalisation d'une évaluation globale systématique standardisée (EGSS) annuelle dans la prise en charge desrhumatismes inflammatoires chroniques (RIC). Celle-ci comprend une évaluation de l'activité et la sévérité de la maladie, mais aussi l'éducation du patient sur la maladie, les connaissances destraitements pharmacologiques et non-pharmacologiques, l'adhésion aux traitements et le dépistage des comorbidités. L'objectif de cette mise au point est de rappeler la définition d'une EGSS, de présenter les preuves de leur efficacité et de faire un état des lieux des pratiques d'une EGSS en France à partir d'une enquête adressée à 72 services de rhumatologie et 186 rhumatologues libéraux. Méthodes > Une revue de la littérature a été menée dans la base de données Pubmed afind'identifier les essais contrôlés randomisés (ECR) ou les méta-analyses rapportant l'efficacité d'une intervention pluridisciplinaire dans les RIC ou dans d'autres maladies chroniques. Deux enquêtes en ligne ont été adressées à tous les services de rhumatologie en France et à un échantillon de rhumatologues libéraux comprenant respectivement 34 et 19 questions. Ces questionnaires permettaient de déterminer le profil du centre/rhumatologue répondeur, l'existence d'une EGSS et les freins ou les éléments facilitateurs à sa mise en place. Résultats > La recherche bibliographique a identifié 872 articles dont 24 ont finalement été inclus :16 ECR et 8 méta-analyses. Seuls 3 articles concernaient les RIC dont une méta-analyse combinant 10 ECR et 2 études d'extension dans la polyarthrite rhumatoïde (PR). Parmi ces 3 études, 2 ECR dans le lupus systémique et la sclérodermie systémique ont montré un impact favorable d'une approche multidisciplinaire respectivement sur le SLEDAI et la force de préhension et l'ouverture buccale tandis que la méta-analyse dans la PR n'a pas démontré de bénéfice sur l'amélioration du handicap ou sur l'activité de la maladie. Une réponse au questionnaire a été obtenue pour 72 centres et 186 rhumatologues. Un tiers des centres avaient déjà mis en place une EGSS au cours d'une HDJ. Soixante-dix pour cent des centres estimaient prendre en charge > 10 patients par mois en y consacrant en moyenne 35 minutes de temps-rhumatologue et 90 minutes de temps cumulé pour tous les autres professionnels de santé (PDS) participants au programme. Les PDS impliqués étaient majoritairement l'infirmier (92 %), le diététicien (56 %) et le kinésithérapeute (56 %). Les principaux freins à la mise en place d'une EGSS étaient l'absence de ressources paramédicales suffisantes, le manque de valorisation économique et l'absence d'adhésion des rhumatologues traitants tandis que la motivation des patients ressortait plutôt comme un élément facilitateur.Conclusion > Bien que la réalisation d'une EGSS soit recommandée par les sociétés savantes, les preuves de leur efficacité dans les RIC sont minces. De plus, seuls 36 % des centres répondeurs ont mis en place un tel programme. Cette enquête permet de soulever les freins et les éléments facilitateurs afin de trouver des solutions pour étendre cette pratique
Efficacy of anti‐PD1 therapy in extranodal NK/T cell lymphoma: A matched cohort analysis from the LYSA
No full textInternational audienceNo abstract availabl
Time efficiency and cost of fabricating removable complete dentures using digital, hybrid, and conventional workflows: A systematic review
No full textInternational audienceStatement of problem: Analysis of the cost and time efficiency of removable complete dentures (RCDs) fabricated using conventional and computer-aided design and computer-aided manufacturing (CAD-CAM) processes remains limited.Purpose: The purpose of this systematic review was to evaluate the time efficiency and cost of conventional, hybrid, and completely digital workflows throughout the entire process of RCD fabrication.Material and methods: Article selection followed the Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols (PRISMA-P) 2015 guidelines and was registered with the international prospective register of systematic reviews (PROSPERO). The bibliographic search covered the PubMed and Cochrane databases using keywords related to removable complete dentures, digital workflows, and economic factors and covered articles from January 2010 to June 2024. In total, 1188 articles were identified and assessed. A bottom-up search identified an additional 10 articles through cited works. Data on cost and time analyses were reported in a qualitative synthesis.Results: The qualitative synthesis included 8 articles published between 2015 and 2024 showing that digital and hybrid workflows generally reduced both clinical and laboratory time and overall costs compared with conventional workflows. The hybrid protocol required significantly less clinical time, with reductions ranging from approximately 1 to 4 hours. Hybrid and completely digital workflows reduced laboratory manufacturing time by approximately 6 to 7 hours compared with conventional workflows. Cost analyses revealed that digital and hybrid workflows were more profitable and cost effective than conventional workflows.Conclusions: The findings suggest that digital and hybrid workflows for RCD fabrication are more time efficient and cost effective than conventional methods
Expérience d’allaitement maternel chez les parents de multiples
No full textIntroduction: the amount of breastfed newborns has had a tendancy to increase these last few years. Its installation requires a strong support system and coherent information. How about breastfeeding multiples ?Method: the main goal of this study was to gather the experiences lived through by the parents of multiples who wished for their infants to be breastfed. To do so, ten women and couples gave their accounts in semi-directed interviews.Results: various experiences have been shared throughout these interviews. Similarities have been observed in the supports or shackles experienced by the participants. The unconditional back up of the co-parent as well as harmony in the information given seems to be the cornerstone for a good support.Discussion: harmonizing practices and speeches, facilitating a continuous breastfeeding while going back to work; there are numerous ways of improvement.Conclusion: a real teamwork including the mother and the co-parent seems to be the central element in concretizing this project. Other supports from caregivers, relatives, associations, are also a precious help.Introduction : les chiffres de l’allaitement maternel tendent à augmenter au fil des années. Sa mise en place requiert un soutien solide et des informations claires. Qu’en est-il de l’allaitement maternel en cas de grossesse multiple ?Méthode : l’objectif principal de l’étude était de recueillir le vécu de parents de multiples désireux d’un allaitement maternel pour leurs enfants. Dans ce but, dix femmes et couples ont été entendus lors d’entretiens semi-dirigés.Résultats : une grande diversité de vécus et expériences ont été recueillis au cours de ces échanges. Des similitudes ont pu être mises en évidence quant aux soutiens et freins évoqués par les participants : nécessité du soutien inconditionnel du co-parent et cohésion des discours et informations sur le sujet.Discussion : harmoniser les pratiques et les discours, faciliter le retour au travail tout en favorisant le prolongement de l’allaitement maternel ; il existe de nombreuses pistes d’amélioration.Conclusion : un véritable travail d’équipe, de la mère et du co-parent, semble être l’élément central dans la réalisation de ce projet. D’autres soutiens provenant de professionnels de santé, de proches, d’associations, sont également des aides précieuses
Distinct inflammatory profiles across migraine states: a systematic review and meta-analysis
No full textInternational audienceBackground : Although several meta-analyses have emphasised the role of inflammation in migraine, none has accounted for the diversity of its clinical manifestations. This systematic review and meta-analysis aims to provide a comprehensive and reliable assessment of cytokine levels in migraine. Methods : We systematically searched PubMed, Embase and Cochrane up to July 4–5, 2024. Original studies providing data on cytokine levels in migraine were included. Non-inclusion criteria covered studies on hemiplegic migraine, controls with tension-type headache, and unclear cytokine identification. The meta-analysis did not cover studies involving less than 10 participants per group or lacking accessible numeral data. Summary data were extracted from each study and pooled using a random-effects model. Standardized mean differences (SMD) were calculated to compare cytokine levels across all relevant biological samples and comparison groups. Findings : Fifty-seven studies were included in the narrative review and/or meta-analysis, covering 2850 migraine patients and 2814 controls. In episodic migraine patients versus controls, blood levels of interleukin-6 (SMD 0·36 [95% CI, 0.07; 0·64], P = 0·013, I²=74·0%), transforming growth factor β (SMD 0·68 [95% CI, 0·44; 0·93], P < 0·001, I²=0·0%) and C-X-C motif ligand 8 (narrative review) were elevated. Levels of interleukin-6 (narrative review; SMD 1·40 [95% CI, 0·95; 1·86], P < 0.001, I²=0·0%) and adiponectin (SMD 0·59 [95% CI, 0·19; 0·98], P = 0·003, I²=36·0%) were elevated in chronic versus episodic migraine. Levels of interleukin-1β (SMD 0·53 [95% CI, 0·15; 0·91], P = 0·006, I²=0·0%), interleukin-10 (narrative review) and salivary levels of interleukin-6 (narrative review) were elevated in ictal versus interictal migraine. No differences were found in peripheral blood cytokine levels between migraine with aura and migraine without aura. Conclusions : This study highlights the association of distinct cytokine profiles with migraine disease (interleukin-6, transforming growth factor-β, C-X-C motif ligand 8), migraine attacks (interleukin-1β, interleukin-6, interleukin-10) and migraine chronification (interleukin-6, adiponectin). Differences in inflammatory profiles across migraine clinicalstates have significant implications for understanding disease mechanisms, progression, and potential therapeutic interventions
La place des sages-femmes dans le soutien à la maternité
No full textObjectives: to observe the skills and role of midwives in the “becoming a mother” process of their patients and to identify practices aimed at supporting the emerging attachment bond within the mother-child relationship. To understand the obstacles midwives may face in their practice and explore perspectives on the tools used.Method: a qualitative, descriptive, and interpretative study was conducted through semi-structured interviews with midwives from the Auvergne-Rhône-Alpes region.Results: among the ten midwives interviewed, two worked in hospitals, seven were in private practice, and one had a community-based role. All considered themselves to be on the front line, particularly through birth and parenting preparation, yet 80% felt inadequately trained. The main obstacles identified were a lack of time, training, and access to professional resources. Although referral skills were at the core of their professional practice, all of participants expressed a desire for further training.Conclusion: the findings are clear: midwives hold a privileged position in supporting women and play a fundamental role in improving perinatal mental health, which should become a public health priority. Midwives must be informed, trained, guided, and supported by institutions to ensure appropriate care for their patients.Objectifs : observer les compétences et la place de la (du) sage-femme dans le « devenir mère » de ses patientes et identifier les pratiques qui visent à soutenir le lien d’attachement naissant au sein du couple mère/enfant. Appréhender les freins auxquels les sages-femmes peuvent être confronté(e)s dans leur pratique et explorer les perspectives des outils mobilisés.Méthode : une étude qualitative descriptive et interprétative a été menée grâce à la réalisation d’entretiens semi-dirigés auprès de sages-femmes d’Auvergne Rhône Alpes.Résultats : parmi les dix sages-femmes interrogé(e)s, deux étaient hospitalières, sept étaient libérales et une seule avait un exercice territorial. Tou(te)s se considéraient en première ligne, notamment grâce à la préparation à la naissance et à la parentalité, mais la grande majorité d’entre elles (eux) ne se sentaient pas assez formé(e)s. Le manque de temps, de formation et de professionnels ressources ont été les principaux freins recensés. Bien que la compétence de l’orientation soit placée au cœur des pratiques professionnel(le)s, tou(te)s les participant(e)s ont confié vouloir se former davantage.Conclusion : le constat est sans appel : les sages-femmes occupent une place privilégiée auprès des femmes et disposent d’un rôle fondamental dans l’amélioration de la santé psychique périnatale qui doit devenir une priorité de santé publique. Les sages-femmes doivent pouvoir être informées, formées, guidées et soutenues par les institutions pour garantir une prise en soins adaptée à leurs patientes
Simulation in vitro de l’environnement digestif et ses applications en santé humaine: l’exemple du microbiote intestinal et de l’obésité
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Migration du 2,4 di-tert-butylphénol des dispositifs ophtalmiques multidoses vers les préparations à base de tacrolimus: influence de la formulation.
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Real-world comparison of effectiveness between ustekinumab and a second-line anti-TNF agent in patients with symptomatic stricturing Crohn’s disease failing to respond to a first-line anti-TNF agent: the USTEKNOSIS study
No full textInternational audienceBackground: Anti-tumor necrosis factor (TNF) agents are now accepted as the first-line medical treatment for stricturing Crohn’s disease (CD). However, data are lacking about the effectiveness of advanced therapies after anti-TNF failure. Objectives: To compare the effectiveness of ustekinumab and a second-line anti-TNF agent after failing to respond to a first-line anti-TNF for a symptomatic stricturing CD. Design: Multicenter retrospective study. Methods: We included consecutive adult patients with CD treated with ustekinumab or anti-TNF for symptomatic stricture (confirmed on imaging or endoscopy) after prior failure of one anti-TNF for the current stricture. Short-term endpoints were symptomatic remission (composite endpoint) at 6 months, defined as no abdominal pain, no vomiting, no food restriction, no sub-occlusive episode, no steroid, no surgery, and no drug discontinuation or symptomatic response (same definition except for tolerating mild abdominal pain). Long-term endpoints were time to drug discontinuation for treatment failure and to bowel damage progression. The comparisons were performed after using propensity score analysis. Results: Seventy patients were included (34 on ustekinumab, 36 on anti-TNF). After propensity score adjustment, symptomatic remission at 6 months was achieved in 73.9% of patients receiving ustekinumab compared to 42.7% in the anti-TNF group ( p = 0.24), while symptomatic response was observed in 84.0% and 49.5%, respectively ( p = 0.13). Predictors of remission in the ustekinumab group were prior bowel resection ( p = 0.001) and stricture length <12 cm ( p = 0.042). The risk of treatment discontinuation (hazard ratio (HR) = 2.86 (1.33–6.15); p = 0.008) and bowel damage progression (HR = 3.90 (1.64–9.24); p = 0.003) were higher in the anti-TNF group. Conclusion: Ustekinumab appears more effective than a second-line anti-TNF in patients with symptomatic stricturing CD after failing to respond to a first-line anti-TNF