BMC Prim Care

BACKGROUND: Although primary care providers have a major role to play in combating risk factors, preventive practices can still be improved. The development of coordinated practice is considered as an opportunity to integrate prevention into primary care. What are the conditions, obstacles and facilitators involved in such a process? OBJECTIVES: To explore and describe the conditions under which prevention is integrated into 'communautés professionnelles territoriales de santé' (CPTS = territorial professional health communities) in France, a new type of primary care organization being generalized in France. METHOD: A case study was conducted in two regions of France. We conducted interviews with: (i) healthcare professionals and coordinators, and (ii) local healthcare authorities and territorial officers for the CPTS. Data were collected through individual and semi-structured group interviews, observations and a documentary analysis. They were then coded by two investigators according to two coding trees depending on the population involved. A thematic analysis was then carried out. RESULTS: This case study was composed of 18 interviews, two observations and three documents. They showed that healthcare professionals and healthcare authorities do not share the same vision, issues and expectations regarding prevention. For the former, prevention should be integrated into care as in preventive clinical practices, while the latter are more focused on the healthcare system with a vision based on prevention programs. CONCLUSION: This study identified the obstacles and facilitators to integrating prevention into coordinated practices in primary care

Rev Neurol (Paris)

This prospective observational study assessed how well patients with neuromuscular disorders (NMDs) tolerated coronavirus disease 2019 (COVID-19) vaccination, and the safety thereof. Patients treated in 55 expert centres of the French NMD (FILNEMUS) network were asked to complete online questionnaires that explored COVID-19 vaccine injection status, adverse effects (AEs), and the impacts thereof on the activities of daily living (ADLs). All patients were followed-up for 12 months. We enrolled 1,020 patients with various NMDs; 38% with myopathy, 33% peripheral neuropathy, 20% myasthenia and 5% spinal muscular atrophy (SMA). Of all patients, 18% were on immune system-modifying therapies. A total of 1,865 vaccine injections were given. Of all patients, 70.4% lacked AEs impacting ADLs (they experienced no AEs or minor AEs), 20.4% reported AEs compromising ADLs, 9% AEs preventing ADLs and 0.2% AEs that required hospitalisation. We found no association between AEs impacting ADLs and the NMD type, physiopathology, or treatment. However, correlations were found between the development of AEs that impacted ADLs and both the modified Rankin score at baseline and vaccination with mRNA-1273 (Moderna). The AE types and frequencies were similar to those of the general population. Our study is reassuring; COVID-19 vaccination is safe for patients with NMDs including those with immune system-mediated diseases and those who are receiving immune system-modifying therapies. Patients with severe disabilities were at an increased risk of AEs that impacted ADLs but this must be weighed against the fact that they are also at increased risk of severe COVID-19 infection. Our mRNA-1273 (Moderna) vaccine findings require confirmation; few patients received this vaccine compared to those injected with BNT162b2 (Pfizer-BioNTech)

BMC Palliat Care

CONTEXT: In the absence of existing recommendations, the objective of this study was to establish a consensus of the support practices used in an interdisciplinary team in a palliative care unit (PCU) for the relatives of patients in the agonal phase. METHOD: This is a consensus study using the Delphi technique. 40 French PCUs participated in this study, including 204 professionals (nurses, nursing assistants, doctors, psychologists, social workers), 42 support volunteers and 32 relatives. These experts responded to a questionnaire comprised of a list drawn up from the results of a preliminary study conducted at Bordeaux University Hospital of 55 practices organised around four topics: providing care and ensuring comfort; communicating, informing and explaining; interacting; and mobilising interdisciplinarity skills. RESULTS: Thirty-five practices were approved by the agreement of professionals, volunteers and relatives. 11 were approved only by professionals/volunteers and 6 only by relatives. Three practices were deemed inappropriate by participants. CONCLUSIONS: These results highlight consensual practices of care during agonal phase in specialized palliative care services and the importance of the quality of care given to patients, of counselling, and the attention paid to the relatives themselves. They will guide and enrich training modules for teams working with relatives

J Neurol Neurosurg Psychiatry

BACKGROUND: Depression has been consistently linked to the onset of dementia, but the temporality and nature of this association-whether causal, prodromal or due to shared pathophysiology-remain unresolved. Longitudinal studies with extended follow-up are necessary to clarify these relationships. This study aimed to characterise the trajectory of depressive symptoms during the 15 years preceding a dementia diagnosis, with particular attention to variations by dementia aetiology. METHODS: This nested case-control study was conducted within the Three-City Study cohort, a prospective population-based study initiated in 1999. The cohort included 9294 community-dwelling individuals aged 65 and older, followed for 15 years in three French cities (Bordeaux, Dijon, Montpellier). Depressive symptoms were assessed using the Centre for Epidemiological Studies Depression scale in 1028 dementia cases and 1028 matched controls. Trajectories of depressive symptoms were analysed over the 15 years preceding the index date (dementia diagnosis). RESULTS: No significant differences in depressive symptomatology (p=0.69) or the frequency of depressive states (OR 1.21, 95% CI 0.51 to 2.87) were observed between cases and controls 12-15 years before the index date. Gradual differences emerged over time, becoming significant 6-8 years prior to dementia onset (p<0.001) and peaking 2 years before the index date (OR 2.93, 95% CI 2.27 to 3.80). These differences were more pronounced in non-Alzheimer's dementia cases. CONCLUSIONS: Depressive symptoms progressively increased in the years leading up to dementia diagnosis, with the most pronounced elevations occurring in non-Alzheimer's dementia

Eur J Hum Genet

Digenic inheritance is characterized by the combined alteration of two different genes leading to a disease. It could explain the etiology of many currently undiagnosed rare diseases. With the advent of next-generation sequencing technologies, the identification of digenic inheritance patterns has become more technically feasible, yet still poses significant challenges without any gold standard method. Here, we present a comprehensive overview of the existing methods developed to detect digenic inheritance in sequencing data and provide a classification in cohort-based and individual-based methods. The latter category of methods appeared the most applicable to rare diseases, especially the ones not needing patient phenotypic description as input. We discuss the availability of the different methods, their output and scalability to inform potential users. Focusing on methods to detect digenic inheritance in the case of very rare or heterogeneous diseases, we propose a benchmark using different real-life scenarios involving known digenic and putative neutral pairs of genes. Among these different methods, DiGePred stood out as the one giving the least number of false positives, ARBOCK as giving the greatest number of true positives, and DIEP as having the best balance between both. By synthesizing the state-of-the-art techniques and providing insights into their practical utility, this benchmark serves as a valuable resource for researchers and clinicians in selecting suitable methodologies for detecting digenic inheritance in a wide range of disorders using sequencing data

Le désir de surveillance en démocratie : Perspectives sur l’institution et le contrat

https://observatoire-surveillance-democratie.fr