BACKGROUND AND AIMS:Patients with LMNA gene variants are at high risk for dilated cardiomyopathy and heart failure (HF), but no prediction model for severe HF events exists. This study aimed to describe the incidence of severe HF events and develop a prediction model in a large cohort of patients with adult-onset laminopathies. METHODS:From a population of 660 patients enrolled in the French LMNA nationwide registry, 470 adults were included in the derivation cohort. An independent international validation cohort included 245 additional patients. Baseline characteristics at genetic testing were assessed and the cumulative incidence of the primary endpoint HF-major adverse cardiac events (HF-MACE) was calculated, defined as HF hospitalization, HF-related death, mechanical circulatory support, or heart transplantation. Predictors of HF-MACE were studied after excluding patients with left ventricular ejection fraction (LVEF) <30% at baseline using a Fine-Gray competing risk model, adjusted hazard ratio (aHR) with 95% confidence interval (CI), and Harrell's concordance (C-) index. A secondary composite endpoint, without hospitalization, was also studied. RESULTS:Among 470 patients of the derivation cohort, HF-MACE occurred in 65 over a median follow-up of 7.1 years (interquartile range: 3.4-12.1). Four independent predictors of HF-MACE were identified: male sex (aHR 1.86; 95% CI 1.060-3.290), LVEF <50% (aHR 2.18; 95% CI 1.080-4.400), missense variants in head and rod domains (aHR 2.91; 95% CI 1.110-7.630), and complete left bundle branch block (aHR 2.99; 95% CI 1.400-6.400). The C-index of the model was 0.750 (95% CI 0.720-0.780) in the derivation cohort and 0.758 (95% CI 0.720-0.800) in the validation cohort. The 5-year cumulative incidence of HF-MACE was 1.5% (95% CI 0.6-3.6), 5.0% (95% CI 1.8-8.2), and 22.0% (95% CI 15.6-28.4) among patients with 0, 1, and ≥2 risk factors, respectively. In patients with LVEF <30% at baseline, the 1-year incidence of HF-MACE was 50%, and those patients were excluded from the risk score. CONCLUSIONS:The first prediction model for severe HF events in adult laminopathies was developed, which may facilitate early and optimal preventive management. CLINICAL TRIAL REGISTRATION:URL: https://www.clinicaltrials.gov Unique identifier: NCT03058185.
Introduction Congenital melanocytic nevi (CMN) are congenital malformations that cannot be detected by prenatal ultrasounds and may have a significant physical and psychological impact on affected individuals, particularly when they are large. Congenital anomalies are known to impair parental quality of life, which may in turn affect the child’s well-being and development. However, little is known about the feelings and lived experience of parents on the birth of a CMN-affected child.The aim of this study is to describe the lived experience of parents of a child with a large or giant CMN, and to document the expressed needs for support (psychological, marital, parenting-related and those evolving along the care pathway)Methods and analysis We will conduct a qualitative study in 10 French hospitals, based on semi-structured interviews. Eligible participants will be parents of children under 18 years of age with a large or giant CMN. A maximum variation sampling strategy will be applied to ensure optimal diversity of profiles in terms of children’s age, gender and phototype and location and size of the CMN. The target sample size will be determined by theoretical saturation. Data will be analysed using an inductive thematic content analysis approach.Ethics and dissemination The study has received ethical approval from the Nancy University Hospital (NUH) Ethics Committee (Opinion No. 504) and authorisation from the French Commission Nationale de l’Informatique et des Libertés (CNIL) (Ref. 2024PI238-614). Non-opposition to participation will be documented in medical records. Findings will be presented at national and European dermatology conferences and published in peer-reviewed international journals.
The incidence of urolithiasis is rising in France, with a prevalence approaching 10
Background The artificial urinary sphincter (AUS) is the reference surgical treatment for moderate-to-severe post-prostatectomy stress urinary incontinence. Despite durable functional outcomes, long-term device-related morbidity and explantation remain frequent. Nationwide real-world data jointly assessing postoperative complications and determinants of revision after AUS implantation remain limited. This study aimed to provide a comprehensive national overview of postoperative complications and identify risk factors for AUS revision or explantation. Methods We conducted a retrospective nationwide cohort study using the French Programme de Médicalisation des Systèmes d’Information (PMSI). All men undergoing primary AUS implantation after radical prostatectomy between 2017 and 2019 were included and followed until December 2023. Postoperative complications were identified using International Classification of Diseases, 10th (ICD-10) Revision codes and classified according to postoperative timing. Baseline comorbidities were analysed using univariate logistic regression, while post-implantation procedures were assessed using Poisson regression to estimate incidence rate ratios for revision or explantation. Results Among 1,790 patients, 268 (15.0%) underwent AUS explantation during follow-up. Most complication-coded rehospitalisations occurred during late follow-up. Urinary incontinence–related diagnoses were the most frequent events, whereas mechanical and infectious complications represented the most clinically relevant device-related outcomes. Urethral fragility conditions were the strongest predictors of explantation. Metabolic disorders, malnutrition, prior pelvic radiotherapy, anticoagulant therapy, tobacco use, and invasive procedures—including blood transfusion, indwelling catheterisation, and cystoscopy—were significantly associated with higher revision risk. Conclusion This nationwide PMSI-based study provides a comprehensive real-world assessment of postoperative morbidity and explantation risk after AUS implantation, highlighting the importance of optimised patient selection and cautious postoperative urethral instrumentation.
Background Sport participation is generally associated with positive physical and mental health outcomes. However, certain sports cultures may also normalize the recreational use of psychoactive substances, particularly alcohol. Despite this issue, addiction prevention programs specifically targeting sports environments remain limited. The PAMS program (Prevention of Addictions through a Multimodal Program in Sport) was developed in France to address this gap. Methods This article describes the development, implementation and initial evaluation of the PAMS program. The program relied on three complementary strategies: (1) dissemination of prevention messages through social media targeting young people aged 15–30 years; (2) training sessions for sports professionals aimed at modifying attitudes, normative beliefs and psychosocial skills related to addictive behaviors; and (3) awareness-raising among athletes regarding career termination through video testimonies from former elite athletes. Social media impact was evaluated using engagement indicators, while training programs were assessed using the first three levels of Kirkpatrick’s evaluation model. Results A total of 140 prevention videos were disseminated on social media platforms, generating more than 162,000 views across networks. The overall engagement rate reached 3.8% for prevention content and 4.1% for videos addressing athletic retirement. In addition, 716 sports professionals participated in the program, including 318 who completed the full training course. Training evaluations showed high levels of satisfaction and perceived knowledge acquisition, with average scores of 3.6 out of 4 across Kirkpatrick evaluation levels. Conclusions The PAMS program represents an innovative multimodal approach to addiction prevention in sports environments. The positive reception among sports professionals and the engagement generated through digital communication suggest that such programs may contribute to the development of prevention cultures within sports organizations. Further research should assess the long-term impact of these interventions on substance use behaviors among athletes.
