Patiente expérience. Savoirs expérientiels et épistémologie de la formation médicale

National audienceAlors que l'implication des usagers dans la gestion du système de santé est inscrite dans la loi française de démocratie sanitaire, que l'expertise des patients atteints de maladies chroniques est reconnue dans le cadre de l'éducation thérapeutique, les facultés de médecine restent pour la plupart réticentes à l'intervention des patients dans la formation des médecins. En effet, les patient-e-s formateurs questionnent le fossé entre connaissances médicales générales fondées sur des études populationnelles (qui seraient l'apanage de l'université), et pratique médicale clinique adaptée aux cas singuliers. Quelles valeurs épistémiques et pédagogiques peuvent avoir ces contributions issues des patient-e-s ? Trois réponses peuvent être esquissées. Le témoignage d'expérience vécue, s'il a une portée heuristique, enferme le patient dans le rôle d'illustration d'un savoir dispensé par d'autres. La transmission d'une expertise issue de l'expérience, qu'elle soit médico-scientifique ou de sciences humaines, s'ajoute à un cursus déjà critiqué pour son caractère pléthorique. La troisième figure du patient-formateur serait celle d'un aiguillon épistémologique, engageant les étudiant-e-s dans une enquête réflexive sur leurs modes d'apprentissage académiques, et dans l'exploration d'un collectif qui ne se limite pas aux professionnels de santé

Patiente expérience. Savoirs expérientiels et épistémologie de la formation médicale

National audienceAlors que l'implication des usagers dans la gestion du système de santé est inscrite dans la loi française de démocratie sanitaire, que l'expertise des patients atteints de maladies chroniques est reconnue dans le cadre de l'éducation thérapeutique, les facultés de médecine restent pour la plupart réticentes à l'intervention des patients dans la formation des médecins. En effet, les patient-e-s formateurs questionnent le fossé entre connaissances médicales générales fondées sur des études populationnelles (qui seraient l'apanage de l'université), et pratique médicale clinique adaptée aux cas singuliers. Quelles valeurs épistémiques et pédagogiques peuvent avoir ces contributions issues des patient-e-s ? Trois réponses peuvent être esquissées. Le témoignage d'expérience vécue, s'il a une portée heuristique, enferme le patient dans le rôle d'illustration d'un savoir dispensé par d'autres. La transmission d'une expertise issue de l'expérience, qu'elle soit médico-scientifique ou de sciences humaines, s'ajoute à un cursus déjà critiqué pour son caractère pléthorique. La troisième figure du patient-formateur serait celle d'un aiguillon épistémologique, engageant les étudiant-e-s dans une enquête réflexive sur leurs modes d'apprentissage académiques, et dans l'exploration d'un collectif qui ne se limite pas aux professionnels de santé

Involving patients in the early-career medical curriculum. An experiment in three medical schools in France

International audienceBackground Over the past 15 years, in a context of evolving medical education and practices, the patient’s voice has become increasingly mportant. What is the place and role of patients in medical training? To what extent and in what settings can real patients mprove learning skills in students? Summary of Work: In 3 French medical faculties, we have been testing various interventions involving real patients: patients’ interventions in optional humanities courses with in - depth exchanges with 20 students, guest lectures given by patients in large amphitheaters followed by questions and answers with around 100 - 150 students, student exploratory interviews with patients, etc. We have involved patients with a diversity of profiles: representatives of patient groups; “expert patients” engaged in therapeutic education; activists working on the coproduction of knowledge; individual volunteer patients from the clientele of a general practitioner. Summary of Results: The analysis was centered on students’ learning experiences via observation, focus groups, questionnaires, written productions and interview s. Thematic qualitative analysis shows (1) enhanced motivation in earning (2) effective acquisition of factual knowledge concerning symptoms, the medical system, and doctor-patient relationships; (3) incitement to personal and professional reflexivity. Discussion : The results of this action-research cannot yet be generalized, but the main lessons concern (1) the importance of a clear framework in place prior to and post discussion with and between students about the meaning of a patient-as-teacher; (2) qualifying patients as potential sources of learning seems to have the potential to transform students’ representations and attitudes toward future patients, who can be considered potential partners for better care. Conclusion : Student and patient feedback encourages us to pursue this experience and strengthen patient involvement in teaching and evaluating students, as well as elaborating curriculum. Institutional support and hat of colleagues are essential for going further. Take Home Messages: Patient involvement in early career curriculum enhances students’ motivation to learn, stimulates knowledge acquisition, and reinforces their reflexivity

Biodiversity and ecosystem functioning relations in European forests depend on environmental context

The importance of biodiversity in supporting ecosystem functioning is generally well accepted. However, most evidence comes from small-scale studies, and scaling-up patterns of biodiversity-ecosystem functioning (B-EF) remains challenging, in part because the importance of environmental factors in shaping B-EF relations is poorly understood. Using a forest research platform in which 26 ecosystem functions were measured along gradients of tree species richness in six regions across Europe, we investigated the extent and the potential drivers of context dependency of B-EF relations. Despite considerable variation in species richness effects across the continent, we found a tendency for stronger B-EF relations in drier climates as well as in areas with longer growing seasons and more functionally diverse tree species. The importance of water availability in driving context dependency suggests that as water limitation increases under climate change, biodiversity may become even more important to support high levels of functioning in European forests

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

International audienceNon-syndromic arthrogryposis multiplex congenita (AMC) is characterized by multiple congenital contractures resulting from reduced fetal mobility. Genetic mapping and whole exome sequencing (WES) were performed in 31 multiplex and/or consanguineous undiagnosed AMC families. Although this approach identified known AMC genes, we here report pathogenic mutations in two new genes. Homozygous frameshift mutations in CNTNAP1 were found in four unrelated families. Patients showed a marked reduction in motor nerve conduction velocity (\textless10 m/s) and transmission electron microscopy (TEM) of sciatic nerve in the index cases revealed severe abnormalities of both nodes of Ranvier width and myelinated axons. CNTNAP1 encodes CASPR, an essential component of node of Ranvier domains which underlies saltatory conduction of action potentials along the myelinated axons, an important process for neuronal function. A homozygous missense mutation in adenylate cyclase 6 gene (ADCY6) was found in another family characterized by a lack of myelin in the peripheral nervous system (PNS) as determined by TEM. Morpholino knockdown of the zebrafish orthologs led to severe and specific defects in peripheral myelin in spite of the presence of Schwann cells. ADCY6 encodes a protein that belongs to the adenylate cyclase family responsible for the synthesis of cAMP. Elevation of cAMP can mimic axonal contact in vitro and upregulates myelinating signals. Our data indicate an essential and so far unknown role of ADCY6 in PNS myelination likely through the cAMP pathway. Mutations of genes encoding proteins of Ranvier domains or involved in myelination of Schwann cells are responsible for novel and severe human axoglial diseases

Continental mapping of forest ecosystem functions reveals a high but unrealized potential for forest multifunctionality

Humans require multiple services from ecosystems, but it is largely unknown whether trade-offs between ecosystem functions prevent the realisation of high ecosystem multifunctionality across spatial scales. Here, we combined a comprehensive dataset (28 ecosystem functions measured on 209 forest plots) with a forest inventory dataset (105,316 plots) to extrapolate and map relationships between various ecosystem multifunctionality measures across Europe. These multifunctionality measures reflected different management objectives, related to timber production, climate regulation and biodiversity conservation/recreation. We found that trade-offs among them were rare across Europe, at both local and continental scales. This suggests a high potential for ‘win-win’ forest management strategies, where overall multifunctionality is maximised. However, across sites, multifunctionality was on average 45.8-49.8% below maximum levels and not necessarily highest in protected areas. Therefore, using one of the most comprehensive assessments so far, our study suggests a high but largely unrealised potential for management to promote multifunctional forests

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families