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Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations
No full textInternational audienceBackground: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the FGD1 gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.Methods: Phenotypic characterisation of the largest reported AAS cohort, comprising 111 male patients with proven causative variants in FGD1, through comprehensive analyses of clinical data including congenital anomalies, growth and neurodevelopment. Review of photographs and radiographs by experts in dysmorphology and skeletal disorders.Results: This study refines the phenotypic spectrum of AAS, with the description of new morphological and radiological features, and refines the prevalence of the features. Short stature is less frequent than previously reported and has a prenatal onset in more than half of the patients. The growth has a specific course with a catch-up during the first decade often leading to low-normal stature in adulthood. Whereas intellectual disability is rare, patients with AAS have a high prevalence of specific learning difficulties and attention hyperactivity disorder. In light of this better knowledge of AAS, we provide management recommendations.Conclusion: A better knowledge of the natural history and phenotypic spectrum of AAS will be helpful for the clinical diagnosis and for the interpretation of FGD1 variants using a retrophenotyping strategy, which is becoming the most common way of diagnosis nowadays. Recommendations for care will improve the management of the patients
Antiretroviral drug exposure in pregnancy and risk of congenital anomalies: a European case/non-case malformed study
No full textInternational audiencePurpose: Antiretroviral drugs are recommended during pregnancy to achieve HIV viral suppression and reduce mother-to-child transmission. Congenital anomaly signals were reported after fetal exposure to antiretroviral drugs in several studies warranting further investigation. We aimed to evaluate the risk of congenital anomalies after fetal exposure to antiretroviral drugs using the European congenital anomaly registry data.Methods: A case/non-case study was performed, using the EUROmediCAT central database. All the congenital anomalies, exposed to any antiretroviral drugs, were included from 1995 to 2019. We explored each signal identified from the literature for associations between congenital anomalies and specific antiretroviral exposures. We compared antiretroviral exposure between the signal anomalies (cases) and all other malformed registrations (controls). Reporting odds ratio (ROR) and their 95% confidence intervals were estimated and adjusted for registry and maternal age.Results: Between 1995 and 2019, 173 cases of congenital anomalies were observed after any exposure to antiretroviral drugs. The signal previously identified in the literature between congenital heart defects and exposure to zidovudine was confirmed in the main analysis (aROR 3.66 [1.63-8.23]). Other signals identified in the literature were not confirmed, although two cases of hypospadias and two cases of limb defects were reported after zidovudine and atazanavir exposure, respectively. The signal detection analysis did not reveal any new signal after applying the Bonferroni correction.Conclusions: Our study does not reveal new signals but confirms the previously identified signal between congenital heart defects and fetal exposure to zidovudine. The physio-pathological hypothesis induced by zidovudine exposure should be explored in future studies
Association between treatment center volume and survival of endometrial cancer patients: A multicenter study: A Francogyn group study
No full textInternational audienceIntroduction: Endometrial cancer (EC) is the fourth most common cancer in women worldwide. The quality of care for EC patients may vary depending on the treatment center volume. The present study aimed to investigate the impact of center volume on the survival of EC patients.Methods: This multicenter retrospective study analyzed a large cohort of EC patients with type 1 and type 2 tumors treated between 2001 and 2020 in France. The study analyzed the impact of center volume on overall survival, as well as the impact of other factors such as age, FIGO stage, lymph node involvement, laparoscopic surgery, and overall recurrence.Results: The study found that treatment center volume had a significant impact on the overall survival of type 1 EC patients but not on type 2 EC patients. Other factors such as age, FIGO stage, lymph node involvement, laparoscopic surgery, and overall recurrence also impacted survival.Conclusion: Our study provides important insights into the quality of care for EC patients in France. The study's results highlight the impact of treatment center volume and other factors on survival and underscore the importance of high-quality care for all EC patients
Association between education level and access to disease-modifying treatment in patients with multiple sclerosis in France
No full textThe author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: Research grant from Eugène Devic EDMUS Foundation against MS, in partnership with the ARSEP FoundationInternational audienceBackground: We hypothesized that differences in access to disease-modifying treatments (DMTs) could explain the association between socioeconomic status and disability progression in multiple sclerosis (MS). Objective: This study aimed to analyze the association between education level and DMT use in France. Methods: All patients from OFSEP network with MS onset over 1996–2014 and aged ⩾ 25 years at onset were included. Three time-to-event outcomes were investigated using flexible parametric survival regression models: time from MS onset to first DMT (any) and to platform therapy, and time from platform therapy to switch to high-efficacy therapy. Results: Overall, 7563 patients were included (mean follow-up 12.6 ± 5.9 years). The percentages of patients aged less than 40 years at MS onset and who initiated treatment before the age of 40 years were significantly higher in the groups with a higher education level. The time-to-event outcomes showed no major difference in DMT practices according to education level, except for women who had a significantly shorter time to DMT initiation in medium to very high education level groups versus low, at 5 years from MS clinical onset. Conclusion: Our results suggest that the association between education level and MS disability progression does not solely reflect different therapeutic practices, particularly in men
Clustering and Interpretation of time-series trajectories of chronic pain using evidential c-means
No full textInternational audienc
Expert Opinion Elicitation for Assisting Deep Learning based Lyme Disease Classifier with Patient Data
No full textInternational audienceDiagnosing erythema migrans (EM) skin lesion, the most common early symptom of Lyme disease using deep learning techniques can be effective to prevent long-term complications. Existing works on deep learning based EM recognition only utilizes lesion image due to the lack of a dataset of Lyme disease related images with associated patient data. Physicians rely on patient information about the background of the skin lesion to confirm their diagnosis. In order to assist the deep learning model with a probability score calculated from patient data, this study elicited opinion from fifteen doctors. For the elicitation process, a questionnaire with questions and possible answers related to EM was prepared. Doctors provided relative weights to different answers to the questions. We converted doctors' evaluations to probability scores using Gaussian mixture based density estimation. For elicited probability model validation, we exploited formal concept analysis and decision tree. The elicited probability scores can be utilized to make image based deep learning Lyme disease pre-scanners robust
IMRED, ICMJE/COPE, EQUATOR : cadres et normes de publication des recherches originales en santé publique
No full textNational audienceThis article presents a structured reflection on the standards and frameworks governing the publication of original research, focusing on the biomedical field, and more specifically, on public health. It draws on Le Moigne’s general systems theory and its systemic triangulation, which analyzes complex objects (in this case, the publication system) through three complementary poles: ontological (what it is), functional (what it does), and genetic (how it evolves). These three dimensions help illuminate the main normative frameworks of publication: (i) the IMRAD structure (Introduction, Methods, Results, and Discussion), which illustrates the ontological pole by ensuring the clarity and replicability of scientific results; (ii) the recommendations of the International Committee of Medical Journal Editors (ICMJE) and the Committee on Publication Ethics (COPE), which provide functional and ethical guidance for the writing and submission of articles, including the roles and responsibilities of authors and contributors; and (iii) the guidelines of the EQUATOR network (Enhancing the QUAlity and Transparency Of health Research), which influence both the writing of articles and the design of studies themselves (genetic pole).The analysis offers perspectives to incorporate Le Moigne’s teleological pole, which questions the very purpose of the scientific publication system and its alignment with major societal challenges. Together, these evolving frameworks interact and continuously develop to promote scientific publications that are not only clear and well-structured but also rigorous in both methodological and ethical terms, while opening space for reflection on the place and role of science in our societies.Este artículo ofrece una reflexión estructurada sobre las normas y los marcos que rigen la publicación de investigaciones originales, centrándose en el ámbito biomédico y, más concretamente, en la salud pública. Se basa en la teoría del sistema general de Le Moigne y su triangulación sistémica, que analiza los objetos complejos (en este caso, el sistema de publicación) a través de tres polos complementarios: ontológico (qué es), funcional (qué hace) y genético (cómo evoluciona). Estas tres dimensiones arrojan luz sobre los principales marcos normativos de la publicación: (i) la estructura IMRED (Introducción, Métodos, Resultados y Discusión), que ilustra el polo ontológico y garantiza la legibilidad y replicabilidad de los resultados científicos; (ii) las recomendaciones del Comité Internacional de Editores de Revistas Médicas (ICMJE) y del Comité de Ética en la Publicación (COPE), que proporcionan referencias funcionales y éticas para la redacción y presentación de artículos, integrando en particular las funciones y responsabilidades de autores y colaboradores; (iii) las directrices de la red EQUATOR (Enhancing the QUAlity and Transparency Of health Research), que influyen tanto en la redacción de artículos como en el propio diseño de la investigación (polo genético).El análisis expone perspectivas con el fin de integrar el polo teleológico de Le Moigne, que cuestiona la finalidad misma del sistema de publicación científica y su coherencia con los grandes retos de la sociedad. Juntos, estos marcos en evolución interactúan y evolucionan constantemente para promover publicaciones científicas que no solo sean claras y bien estructuradas, sino también rigurosas en términos metodológicos y éticos, al tiempo que abren un espacio para la reflexión sobre el lugar y el papel de la ciencia en nuestras sociedades.Cet article propose une réflexion structurée sur les normes et cadres qui régissent la publication de recherches originales, en se concentrant sur le domaine biomédical et plus particulièrement sur la santé publique. Il s’appuie sur la théorie du système général de Le Moigne et sa triangulation systémique, qui analyse les objets complexes (ici, le système de publication) à travers trois pôles complémentaires : ontologique (ce que c’est), fonctionnel (ce que cela fait) et génétique (comment cela évolue). Ces trois dimensions permettent d’éclairer les grands cadres normatifs de la publication : (i) la structure IMRED (Introduction, Méthodes, Résultats et Discussion), qui illustre le pôle ontologique en assurant la lisibilité et la réplicabilité des résultats scientifiques ; (ii) les recommandations du Comité international des éditeurs de revues médicales (ICMJE) et du Comité d’éthique de la publication (COPE), qui fournissent des repères fonctionnels et éthiques pour la rédaction et la soumission des articles, intégrant notamment les rôles et responsabilités des auteurs et contributeurs ; (iii) les lignes directrices du réseau EQUATOR (Enhancing the QUAlity and Transparency Of health Research), qui influencent à la fois la rédaction des articles et la conception même des recherches (pôle génétique).L’analyse énonce des perspectives afin d’intégrer le pôle téléologique de Le Moigne, qui interroge la finalité même du système de publication scientifique et sa cohérence avec les grands enjeux sociétaux. Ensemble, ces cadres évolutifs interagissent et évoluent constamment pour tendre vers des publications scientifiques non seulement claires et bien structurées, mais aussi rigoureuses sur les plans méthodologiques et éthiques, tout en ouvrant un espace de réflexion sur la place et le rôle de la science dans nos sociétés
L'accouchement inopiné extra-hospitalier par les sapeurs-pompiers, comment gèrent-ils ? La réalité de ces accouchements
No full textIntroduction: in a context of maternity unit closures and increasing geographic distance to hospitals, firefighters are becoming key players in the emergency management of childbirth. This thesis questions their role and the limits of their training when faced with such situations.Materials and Methods: this study is based on a qualitative approach, drawing on eighth semi-structured interviews conducted in sixth fire stations in the Loire department. The data were thematically analyzed to highlight the firefighters’ experiences and practices.Results: the results reveal rather uneven preparation among firefighters when dealing with unexpected out-of-hospital births. While some feel relatively confident due to previous experience or occasional training, others report a lack of practice, infrequent refreshers, and persistent apprehension. Stress remains a common factor, sometimes alleviated by team support or the presence of healthcare professionals.Discussion: the analysis highlights several avenues for improvement: increasing the frequency of training, incorporating more hands-on practice, and implementing immersion placements in maternity wards. The development of easily accessible educational resources, as well as collaboration with midwives, also appear to be concrete and valuable strategies.Conclusion: this thesis underscores the importance of recognizing unexpected births as a significant issue for firefighters. Beyond technical skills, the ability to reassure, adapt, and collaborate with healthcare professionals proves essential. This work calls for a re-evaluation of their role within the perinatal care chain.Introduction : dans un contexte de réduction des maternités et d’éloignement géographique, les sapeurs-pompiers deviennent des acteurs clés dans la prise en charge des naissances en urgence. Ce mémoire questionne leur rôle et les limites de leur formation face à ces situations.Matériel et méthode : l’étude repose sur une approche qualitative, basée sur huit entretiens semi-directifs menés dans six casernes de la Loire. Les données ont été analysées thématiquement afin de dégager les expériences et les pratiques des pompiers.Résultats : les résultats montrent une préparation plutôt hétérogène des sapeurs-pompiers face aux accouchements inopinés extra-hospitaliers. Si certains se sentent relativement confiants grâce à l'expérience ou à des formations ponctuelles, d'autres expriment un manque de pratique, de rappels réguliers et une appréhension persistante. Le stress reste un facteur commun, atténué parfois par le soutien en équipe ou le renfort des professionnels de santé.Discussion : l’analyse met en lumière plusieurs pistes d’amélioration : augmenter la fréquence des formations, intégrer davantage de pratique, et instaurer des stages d’immersion en maternité. Le développement de supports accessibles à tout moment, ainsi que la collaboration avec les sages-femmes, apparaissent également comme des leviers concrets.Conclusion : ce mémoire révèle l’importance de considérer les accouchements inopinés comme un enjeu à part entière pour les pompiers. La capacité à rassurer, à s’adapter et à travailler en lien avec les autres professionnels du soin qui fait la différence. Ce travail invite à repenser leur place dans la chaîne de périnatalité
Validation of an 8-item self-administered questionnaire for assessing migraine-related sensory hypersensitivities (MHQ-8)
No full textInternational audienc
Prevalence and Patterns of Off-Label Transmucosal Immediate-Release Fentanyl Use in French General Practice: A Mixed-Methods Study Based on a Voluntary Online Survey
No full textInternational audiencePrescriptions of transmucosal immediate-release fentanyl (TIRF) have increased in recent years, driven by their rapid onset and ease of administration compared to other opioids like morphine and oxycodone, especially for breakthrough pain. A 2022 study reported high rates of off-label TIRF use, particularly among general practitioners (GPs). This study aimed to assess the prevalence and patterns of off-label TIRF use by GPs, and perceived efficacy for predictable pain associated with medical procedures. Secondary objectives included evaluating its use in other specific contexts such as swallowing or alertness disorders, acute pain, and overall tolerability.MethodsA mixed-methods study was designed to combine qualitative interviews exploring clinical contexts with a quantitative cross-sectional survey assessing the prevalence of off-label use of TIRF among French GPs. Data were collected through a national online survey.ResultsA total of 682 completed questionnaires were analyzed. The study focused exclusively on off-label prescribing of TIRFs. Off-label use was reported by 46% of GPs across a variety of clinical indications. Specifically, 244 GPs (36%; 95% CI 32–40) reported prescribing TIRFs for procedural pain. Other off-label indications were also reported, including use for alertness disorders (24%; 95% CI 21–27), swallowing disorders (32%; 95% CI 28–35), and acute rheumatological pain (12%; 95% CI 9–14). These findings highlight a substantial level of off-label prescribing, with varying perceptions of efficacy and tolerability across different clinical contexts.ConclusionsThis study confirms widespread off-label TIRF use in well-defined clinical situations. While many GPs report positive outcomes, important concerns remain, including limited training, difficulty with dose titration, and the risk of use disorder. Targeted education and clearer prescribing guidelines could help ensure a safer and more appropriate use of TIRF in GPs practice