Simulated medical regulation : cognitive engineerine to design a training tool

La régulation médicale est une sous-discipline de la Médecine d'Urgence. La tâche du médecin régulateur s'apparente à la gestion d'un environnement dynamique à risque. SimulPhone© est un nouveau type d'outil permettant de simuler un appel. L'objet de ce travail est de construire un outil d'apprentissage par simulation à partir des données de l’ingénierie cognitive. A partir de scénarios de simulation, nous avons conduit cinq expériences. La première expérience permet d'étudier la faisabilité et de déterminer les axes d'analyse. La deuxième étude teste la validité et la fidélité du simulateur. Nous avons ensuite établi un score de performance cognitive. La troisième expérience détermine un sous-groupe d'experts grâce au score précédent. Leur comportement est analysé pour chaque scénario afin d'établir un guide pédagogique. La quatrième expérience étudie l'impact de la dominance sur le raisonnement et la décision. La dernière expérience analyse les apprentissages au cours d'une journée de simulation. Les résultats des expériences retrouvent (1) un réalisme important du simulateur. Nous avons démontré (2) la validité, la fidélité intra et inter-observateur du simulateur. Ces résultats ne sont pas modifiés par la profession du participant. Dans la troisième expérience, la sous-population d'experts nous permet de construire un guide pédagogique. Dans l'arrêt cardiorespiratoire, nous avons observé une limitation de la charge cognitive de l'appelant pour lui faire réaliser un massage cardiaque par téléphone. Nous avons démontré (4) l'impact des informations paraverbales sur la décision des régulateurs. Enfin, au cours d'une journée de formation (5), nous avons observé une réactivation des connaissances antérieures.Emergency Medical Call Center is a part of Emergency Medicine. Emergency Medical Dispatching Physician (EMDP) deals with a critical dynamic environment. SimulPhone© is a novel simulator for call center. The aim of this work is to build a training simulation tool from the cognitive engineering. With simulation scenarios, we conducted five experiments. For the first one, we tested the feasibility and determined the fields of analysis. The second study tested the validity and reliability of the simulator. We then established a cognitive performance score. The third experiment determined a subgroup with experts with the previous score. Their behaviors were analyzed for each scenario in order to establish an educational guide. The fourth experiment studied the impact of dominance on the reasoning and decision. The last one analysed the learning experience during a simulation day. Our results found (1) a significant realism of the simulator. We have demonstrated (2) the validity, reliability, intra and inter-observer simulator. These results are not affected by the profession of the participants. In the third experiment, the subgroup of experts allowed us to build an educational guide. In cardiac arrest, we observed a cognitive underload from subject to the caller in order to realise a telephone cardiopulmonary resuscitation. We have demonstrated (4) the impact of paraverbal informations on the decision of EMDP. At least, during a training session (5), we observed previous knowledge awakening

Elaboration d un score de performance dans la détection des arrêts cardiaques par les médecins régulateurs en simulation d appel médical urgent

INTRODUCTION. L arrêt cardiaque représente l urgence absolue pour un appel au centre 15. Le but de la régulation médicale est d envoyer le bon moyen au bon moment à la bonne personne. Le diagnostic de l arrêt cardiaque représente la première étape pour permettre une régulation adéquate. MATERIEL ET METHODE. Une simulation d appel médical urgent pour malaise sur un arrêt cardiaque a été proposée à des médecins urgentistes d expériences variées. Les données de ces simulations ont été enregistrés afin de détecter et déterminer les comportements caractérisant l expertise. Ce travail avait en effet pour objet d élaborer un score de performance de la reconnaissance et de la prise en charge d un arrêt cardiaque en régulation médicale L utilisation de ce score pouvant être envisagée ultérieurement pour évaluer l impact des formations initiales et continues en régulation médicale. RESULTATS. Les séances de simulation de 85 médecins urgentistes répartis en deux groupes. 24 (28%) dans le groupe des expérimentés et 61 (72%) dans le groupe des novices ont été enregistrés. Le score de performance établi objective une efficacité supérieure significative des régulateurs expérimentés sur les novices dans la prise en charge téléphonique de l arrêt cardiaque préhospitalier. CONCLUSION. Soulignons enfin l importance de faire masser l appelant au plus vite pour diminuer le no flow de la victime et de pouvoir contrôler son action en le faisant compter à voix haute par exemple.DIJON-BU Médecine Pharmacie (212312103) / SudocSudocFranceF

Evaluation de l'impact des éléments de communication dans la régulation médicale simulée d'une douleur thoracique

DIJON-BU Médecine Pharmacie (212312103) / SudocSudocFranceF

Évaluation des méthodes diagnostiques de l'insuffisance cardiaque aiguë aux Urgences

L'objectif de ce travail est d'évaluer les éléments de diagnostic de l'œdème aigu du poumon (OAP) et de proposer un organigramme diagnostique applicable dans un service d'Urgences. Méthodes : nous avons réalisé une étude prospective sur les patients dyspnéiques suspects d'insuffisance cardiaque hospitalisés dans le service d'accueil et d'Urgences du Centre Hospitalier Universitaire de Grenoble. Chacun des éléments cliniques, biologiques, radiologiques et échographiques a été interprété par un spécialiste expert en aveugle. Le diagnostic final a été posé par un cardiologue. Résultats : les signes cliniques sont peu spécifiques hormis la turgescence jugulaire. Le bloc de branche gauche à l'ECG (BBG) est un élément extrêmement spécifique. La radiographie possède un temps de réalisation (5h41min en moyenne) long et difficile à standardiser. L'organigramme ci-dessous possède une sensibilité de 95,2 % (P < 0,001). Le premier item est la dyspnée associée à soit une turgescence jugulaire, soit à une température inférieure à 38ʿC, soit à un antécédent d'infarctus. Dans le cas contraire, la réalisation du NT-proBNP (seuil à 400pg/L) permet le diagnostic. Le deuxième item est la présence d'un BBG qui conclut au diagnostic d'OAP. En l'absence de BBG la présence d'une hypertrophie ventriculaire ou auriculaire droite électrocardiographique permet d'exclure le diagnostic. Pour les patients restants, si le NT-proBNP multiplié par la clairance est supérieur à 28 000, on pose le diagnostic d'OAP. Dans le cas contraire il est nécessaire de réaliser une échographie trans-thoracique (ETT). Conclusion : cet organigramme permet de sélectionner par la clinique 88 % des patients (dont 93 % d'OAP). 29 % des patients sont diagnostiqués à 53 minutes par l'ECG et 84 % à 155 minutes grâce au NT L'ETT ne serait utile que pour 16% des patients.The objective of this work was to evaluate the worth of the diagnostic elements of acute left ventricular dysfunction (ALVD) and especially to propose a diagnostic chart useable in an emergency unit. Methods : we performed a prospective study of patients with dyspnoea suspected from heart failure hospitalized through Emergency Unit of Grenoble hospital. Each of clinical, biological, radiological and echographic element was performed by a blind referent specialist. Final diagnosis has been given by an independant cardiologist. Results : clinicals signs are not specific except jugular turgescence. Left branch bloc (LBB) is an extremely specific element. Radiography has long time for realisation (Mean 5 h 41) and is difficult to realize. Finally, the chart below has a statistic value (Sensibility 95.2 P=0.00000015). First item is dyspnoea associated with either jugular turgescence, or temperature below 38ʿC or infarct history. If not, the mesure of NT-proBNP (threshold 400pg/L) permit the diagnosis. The second item is the finding of LBB, wich allow the diagnosis of ALVD. If there is no LBB, an electrocardiographic right hypertrophy either ventricular or auricular can exclude the diagnosis. For the other patients, if NTproBNP by creatinin clearance factor is above 28 000, the diagnosis of ALVD is possible. If not, an echocardiography must be realized. Discussion : this chart allow a selectionof 88 % of patients by clinical elements (with 93 % of ALVD). 29 % of patients have a diagnosis at 53 minutes with ECG, and 84 % at 155 minutes thanks to NT-proBNP. An echocardiography is needed in only 16 % of patients.GRENOBLE1-BU Médecine pharm. (385162101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Emergency medical triage decisions are swayed by computer-manipulated cues of physical dominance in caller’s voice

International audienceIn humans as well as other animals, displays of body strength such as power postures or deep masculine voices are associated with prevalence in conflicts of interest and facilitated access to resources. We conduct here an ecological and highly critical test of this hypothesis in a domain that, on first thought, would appear to be shielded from such influences: access to emergency medical care. Using acoustic manipulations of vocal masculinity, we systematically varied the perceived level of physical dominance of mock patients calling a medical call center simulator. Callers whose voice were perceived as indicative of physical dominance (i.e. those with low fundamental and formant frequency voices) obtained a higher grade of response, a higher evaluation of medical emergency and longer attention from physicians than callers with strictly identical medical needs whose voice signaled lower physical dominance. Strikingly, while the effect was important for physician participants, it was virtually non-existent when calls were processed by non-medically-trained phone operators. This finding demonstrates an unprecedented degree of vulnerability of telephone-based medical decisions to extra-medical factors carried by vocal cues, and shows that it may not simply be assumed that more medical training will shield decisions from such influences

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

International audienceWith exome/genome sequencing (ES/GS) integrated into the practice of medicine, there is some potential for reporting incidental/secondary findings (IFs/SFs). The issue of IFs/SFs has been studied extensively over the last 4 years. In order to evaluate their implications in care organisation, we retrospectively evaluated, in a cohort of 700 consecutive probands, the frequency and burden of introducing the search for variants in a maximum list of 244 medically actionable genes (genes that predispose carriers to a preventable or treatable disease in childhood/adulthood and genes for genetic counselling issues). We also focused on the 59 PharmGKB class IA/IB pharmacogenetic variants. We also compared the results in different gene lists. We identified variants (likely) affecting protein function in genes for care in 26 cases (3.7%) and heterozygous variants in genes for genetic counselling in 29 cases (3.8%). Mean time for the 700 patients was about 6.3 min/patient for medically actionable genes and 1.3 min/patient for genes for genetic counselling, and a mean time of 37 min/patients for the reinterpreted variants. These results would lead to all 700 pre-test counselling sessions being longer, to 55 post-test genetic consultations and to 27 secondary specialised medical evaluations. ES also detected 42/59 pharmacogenetic variants or combinations of variants in the majority of cases. An extremely low metabolizer status in genes relevant for neurodevelopmental disorders (CYP2C9 and CYP2C19) was found in 57/700 cases. This study provides information regarding the need to anticipate the implementation of genomic medicine, notably the work overload at various steps of the process

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

IF 2.137International audienceBACKGROUND AND OBJECTIVE:Whole-exome sequencing (WES) has now entered medical practice with powerful applications in the diagnosis of rare Mendelian disorders. Although the usefulness and cost-effectiveness of WES have been widely demonstrated, it is essential to reduce the diagnostic turnaround time to make WES a first-line procedure. Since 2011, the automation of laboratory procedures and advances in sequencing chemistry have made it possible to carry out diagnostic whole genome sequencing from the blood sample to molecular diagnosis of suspected genetic disorders within 50 h. Taking advantage of these advances, the main objective of the study was to improve turnaround times for sequencing results.METHODS:WES was proposed to 29 patients with severe undiagnosed disorders with developmental abnormalities and faced with medical situations requiring rapid diagnosis. Each family gave consent. The extracted DNA was sequenced on a NextSeq500 (Illumina) instrument. Data were analyzed following standard procedures. Variants were interpreted using in-house software. Each rare variant affecting protein sequences with clinical relevance was tested for familial segregation.RESULTS:The diagnostic rate was 45% (13/29), with a mean turnaround time of 40 days from reception of the specimen to delivery of results to the referring physician. Besides permitting genetic counseling, the rapid diagnosis for positive families led to two pre-natal diagnoses and two inclusions in clinical trials.CONCLUSIONS:This pilot study demonstrated the feasibility of rapid diagnostic WES in our primary genetics center. It reduced the diagnostic odyssey and helped provide support to families.Copyright © 2017 Elsevier Masson SAS. All rights reserved

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

International audienceXq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability, stereotyped movements, and recurrent pulmonary infections. We report on standardized brain magnetic resonance imaging (MRI) data of 30 affected patients carrying an Xq28 duplication involving MECP2 of various sizes (228 kb to 11.7 Mb). The aim of this study was to seek recurrent malformations and attempt to determine whether variations in imaging features could be explained by differences in the size of the duplications. We showed that 93% of patients had brain MRI abnormalities such as corpus callosum abnormalities (n = 20), reduced volume of the white matter (WM) (n = 12), ventricular dilatation (n = 9), abnormal increased hyperintensities on T2-weighted images involving posterior periventricular WM (n = 6), and vermis hypoplasia (n = 5). The occipitofrontal circumference varied considerably between \textgreater+2SD in five patients and \textless-2SD in four patients. Among the nine patients with dilatation of the lateral ventricles, six had a duplication involving L1CAM. The only patient harboring bilateral posterior subependymal nodular heterotopia also carried an FLNA gene duplication. We could not demonstrate a correlation between periventricular WM hyperintensities/delayed myelination and duplication of the IKBKG gene. We thus conclude that patients with an Xq28 duplication involving MECP2 share some similar but non-specific brain abnormalities. These imaging features, therefore, could not constitute a diagnostic clue. The genotype-phenotype correlation failed to demonstrate a relationship between the presence of nodular heterotopia, ventricular dilatation, WM abnormalities, and the presence of FLNA, L1CAM, or IKBKG, respectively, in the duplicated segment. © 2015 Wiley Periodicals, In

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

IF 5.751International audienceThe Xq28 duplication involving the MECP2 gene (MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have been published. We aimed to better describe the phenotype of this condition, with a focus on morphological and neurological features. Through a national collaborative study, we report a large French series of 59 affected males with interstitial MECP2 duplication. Most of the patients (93%) shared similar facial features, which evolved with age (midface hypoplasia, narrow and prominent nasal bridge, thick lower lip, large prominent ears), thick hair, livedo of the limbs, tapered fingers, small feet and vasomotor troubles. Early hypotonia and global DD were constant, with 21% of patients unable to walk. In patients able to stand, lower limbs weakness and spasticity led to a singular standing habitus: flexion of the knees, broad-based stance with pseudo-ataxic gait. Scoliosis was frequent (53%), such as divergent strabismus (76%) and hypermetropia (54%), stereotypic movements (89%), without obvious social withdrawal and decreased pain sensitivity (78%). Most of the patients did not develop expressive language, 35% saying few words. Epilepsy was frequent (59%), with a mean onset around 7.4 years of age, and often (62%) drug-resistant. Other medical issues were frequent: constipation (78%), and recurrent infections (89%), mainly lung. We delineate the clinical phenotype of MECP2 duplication syndrome in a large series of 59 males. Pulmonary hypertension appeared as a cause of early death in these patients, advocating its screening early in life