Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.

BACKGROUND: Classical infantile-onset Pompe disease (IOPD) is the most severe form of Pompe disease. Enzyme replacement therapy (ERT) has significantly increased survival but only a few studies have reported long-term outcomes. METHODS: We retrospectively analyzed the outcomes of classical IOPD patients diagnosed in France between 2004 and 2020. RESULTS: Sixty-four patients were identified. At diagnosis (median age 4 months) all patients had cardiomyopathy and most had severe hypotonia (57 of 62 patients, 92%). ERT was initiated in 50 (78%) patients and stopped later due to being ineffective in 10 (21%). Thirty-seven (58%) patients died during follow-up, including all untreated and discontinued ERT patients, and 13 additional patients. Mortality was higher during the first 3 years of life and after the age of 12 years. Persistence of cardiomyopathy during follow-up and/or the presence of heart failure were highly associated with an increased risk of death. In contrast, cross-reactive immunologic material (CRIM)-negative status (n = 16, 26%) was unrelated to increased mortality, presumably because immunomodulation protocols prevent the emergence of high antibody titers to ERT. Besides survival, decreased ERT efficacy appeared after the age of 6 years, with a progressive decline in motor and pulmonary functions for most survivors. CONCLUSIONS: This study reports the long-term follow-up of one of the largest cohorts of classical IOPD patients and demonstrates high long-term mortality and morbidity rates with a secondary decline in muscular and respiratory functions. This decreased efficacy seems to be multifactorial, highlighting the importance of developing new therapeutic approaches targeting various aspects of pathogenesis.

[Adaptation and conditions of use of a health equity tool: The Reflex-ISS tool]. / Adaptation et conditions d'utilisation d'un outil d'analyse des interventions au regard des inégalités sociales de santé.

Although actions to reduce social inequalities in health cannot be considered the exclusive responsibility of public health actors, they should at least make sure their interventions account for these inequalities. However, the actors involved in these interventions have few tools to support them in this process. Therefore, building on a study conducted in France, we have adapted, tested, and developed in Quebec a tool intended to help actors take into account social inequalities in health. The article presents the approach that led to the adaptation of the tool to the Quebec context, to describe the tool, and then to discuss some issues for inclusion in professional practices. A participatory and constructive process between researchers, managers and practitioners led to a useful and useable tool. It is composed of five aspects of intervention (planning, implementation, evaluation, sustainability, and empowerment) and 44 items for discussion presented as questions. A user guide, a glossary, and some practical examples accompany the tool. It follows a reflexive and constructive process wherein a third party facilitator can assist actors involved in an intervention to analyze how they take social inequalities in health into account. This assessment can help generate collective recommendations for improvements, which can be monitored over time, to improve consideration of equity in public health interventions. The article concludes on some issues related to its integration into professional practices.

Use of concurrent mixed methods combining concept mapping and focus groups to adapt a health equity tool in Canada.

The aim of this project was to identify and prioritize a set of conditions to be considered for incorporating a health equity tool into public health practice. Concept mapping and focus groups were implemented as complementary methods to investigate the conditions of use of a health equity tool by public health organizations in Quebec. Using a hybrid integrated research design is a richer way to address the complexity of questions emerging from intervention and planning settings. This approach provides a deeper, operational, and contextualized understanding of research results involving different professional and organizational cultures, and thereby supports the decision-making process. Concept mapping served to identify and prioritize in a limited timeframe the conditions to be considered for incorporation into a health equity tool into public health practices. Focus groups then provided a more refined understanding of the barriers, issues, and facilitating factors surrounding the tools adoption, helped distinguish among participants' perspectives based on functional roles and organizational contexts, and clarified some apparently contradictory results from the concept map. The combined use of these two techniques brought the strengths of each approach to bear, thereby overcoming some of the respective limitations of concept mapping and focus groups. This design is appropriate for investigating targets with multiple levels of complexity.

[External validation of the short emergency geriatric assessment (SEGA) instrument on the SAFES cohort]. / Validation externe de la grille de fragilité SEGA sur la cohorte SAFES.

The aim of the study was to achieve the external validation of the SAGA instrument on the SAFES cohort. This was a prospective longitudinal multicentre cohort study, including patients aged 75 years or over, hospitalized in a short stay medical ward via emergency department. A comprehensive geriatric assessment was implemented. The psychometric validation enabled the study of feasibility, internal consistency, convergent, discriminant, and predictive validity of the instrument. The 1 306 patients of the cohort was 85±6 years, with a majority of women (65%). The completion rate of the SEGA instrument was 94%. Internal consistency was good (Cronbach alpha coefficient=0.7). Convergent validity was poor: Donini instrument (kappa=0.18; IC 95%=0.13-0.23), Rockwood instrument (kappa=0.04; IC 95%=0.02-0.06), and Winograd instrument (kappa=0.04; IC 95%=0.01-0.07). The ability of the instrument to discriminate clinically different groups was good. The SEGA instrument predicted well one-year mortality as well as one-year institution admission. Despite poor convergent validity (which is classic with frailty tools, SEGA instrument has satisfactory metrological properties, allowing its use in emergency departments and immediate post-emergency circumstances.

[The place of general practitioners in cancer care in Champagne-Ardenne]. / Place du médecin généraliste dans le traitement du cancer en Champagne-Ardenne.

INTRODUCTION: In France, general practitioners (GPs) are playing a key role in cancer care since the HPST law and the second national cancer plan. METHOD: A postal questionnaire survey was conducted in Champagne-Ardenne Area to evaluate GPs' satisfaction and needs in cancer management. A questionnaire was sent by mail in March and April 2011 to 1231 GPs. Statistical analysis of the results was done using Sphinx software (France). RESULTS: Participation rate was 33% (n = 405/1231). Most of the participants were male (n = 296; 73%), and the mean age was 51.8 years (s.d.: 9 years). Participants described as acceptable their communication with oncologists (n = 343; 85%), the delay of receiving the multidisciplinary team meeting report (n = 353; 88%) and the patient personalised care plan (n = 319; 81%). However, 69% (n = 269) stated that the communication between GPs and oncologists should improve and 64% (n = 243) were not satisfied with their level of oncology knowledge. CONCLUSION: This study identified important key points that need to be improved in order to strengthen the place of GPs in cancer management.