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Extreme weather and climate variability impose significant stress on the food production and distribution systems, already under pressure by increasing and shifting demands. In a globalized world economy with a highly interdependent network of food production and transmission systems, weather extremes cannot be regarded as local events anymore but rather as the triggering factors of a succession of downstream regional or even global impacts. Food and nutrition availability are national security issues, and the vulnerability of food distribution and nutrition supply systems are often assessed using metrics sensitive to local weather or climate events. Although informative, such metrics are often probabilistic and do not provide information on the local and nonlocal processes which drive changes in nutrition production, supply, and distribution. This study outlines frameworks for analyzing the interdependencies between countries' food systems, for quantifying change in nutritional value production and delivery due to weather extremes or climate variabilities, and for detecting changes in production capacities.

International audience; SHANK3-related Phelan-McDermid syndrome (PMS) is caused by a loss of the distal part of chromosome 22, including SHANK3, or by a pathological SHANK3 variant. There is an important genetic and phenotypic diversity among patients who can present with developmental delay, language impairments, autism, epilepsy, and other symptoms. SHANK3, encoding a synaptic scaffolding protein, is deleted in the majority of patients with PMS and is considered a major gene involved in the neurological impairments of the patients. However, differences in deletion size can influence clinical features, and in some rare cases, deletions at the 22q13 locus in individuals with SHANK3-unrelated PMS do not encompass SHANK3. These individuals with SHANK3-unrelated PMS still display a PMS-like phenotype. This suggests the participation of other 22q13 genes in the pathogenesis of PMS. Here, we review the biological function and potential implication in PMS symptoms of 110 genes located in the 22q13 region, focusing on 35 genes with evidence for association with neurodevelopmental disorders, including 13 genes for epilepsy and 11 genes for microcephaly and/or macrocephaly. Our review is restricted to the 22q13 region, but future large-scale studies using whole genome sequencing and deep-phenotyping are warranted to develop predictive models of clinical trajectories and to target specific medical and educational care for each individual with PMS.

This work is devoted to Wire Arc Additive Manufacturing processing. The question of automatic generation of robot trajectories is mainly addressed. An in-house slicer was first developed. Once the part to be manufactured has been designed and converted into STL format, the slicer allows automatic generation of successive vertices defining the part contours and corresponding robot trajectories. Automatic generation of the robot program is then performed including displacement instructions written in KRL language (case of KUKA robots), as well as commands related to the CMT welding device. The different steps in the offline programming pre-treatment process are first described. In a second step, two distinct parts with increasing degrees of complexity were printed using the corresponding offline programming tool. Finally, the question of the scanning strategy is discussed, the manufactured parts are shown, and required further improvements are explained.

BACKGROUND: The impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in patients with chronic liver disease (CLD) and liver transplant (LT) recipients remains a concern. The aim of this study was to report the impact of coronavirus disease 2019 (COVID-19) infection among patients at the tertiary health care centre Centre hospitalier de l’Université de Montréal (CHUM) during the first wave of the SARS-CoV-2 pandemic. METHODS: This real-world, retrospective cohort included all patients admitted to our liver unit and/or seen as an outpatient with CLD with or without cirrhosis and/or LT recipients who tested positive to SARS-CoV-2 infection. Cases were considered positive as defined by the detection of SARS-CoV-2 by reverse-transcription polymerase chain reaction (RT-PCR) on nasopharyngeal swabs. RESULTS: Between April 1 and July 31, 2020, 5,637 were admitted to our liver unit and/or seen as outpatient. Among them, 42 were positive for SARS-CoV-2. Twenty-two patients had CLD without cirrhosis while 16 patients had cirrhosis at the time of the infection (13, 2, and 1 with Child–Pugh A, B, and C scores, respectively). Four were LT recipients. Overall, 15 of 42 patients (35.7%) were hospitalized; among them, 7 of 42 (16.7%) required respiratory support and 4 of 42 (9.5%) were transferred to the intensive care unit. Only 4 of 42 (9.5%) patients died: 2 with CLD without cirrhosis and 2 with CLD with cirrhosis. Overall survival was 90.5%. CONCLUSION: This real-world study demonstrates an unexpectedly low prevalence and low mortality in the context of SARS-CoV-2 infection among patients with CLD with or without cirrhosis and LT recipients.

While over a hundred genes are significantly associated with autism, little is known about the prevalence of variants affecting them in the general population. Nor do we fully appreciate the phenotypic diversity beyond the formal autism diagnosis. Using data from more than 13,000 autistic individuals and 210,000 undiagnosed individuals, we provide a gene-level map of the odds ratio for autism associated to rare loss-of-function (LoF) variants in 185 genes robustly associated with autism, alongside 2,492 genes displaying intolerance to LoF variants. In contrast to autism-centric approaches, we investigated the phenotype of undiagnosed individuals heterozygous for such variants and show that they exhibit a decrease in fluid intelligence, qualification level and income, and an increase in material deprivation. These effects were larger for LoFs in autism-associated genes than in other LoF-intolerant genes and appeared largely independent of sex and polygenic scores for autism. Using brain imaging data from 21,049 UK-Biobank individuals, we provide evidence for smaller cortical surface area and volume among carriers of LoFs in genes with high odds ratios for autism. Our gene-level map is a key resource to distinguish genes with high and low odds ratio for autism, and highlights the importance of including quantitative data on both diagnosed and undiagnosed individuals to better delineate the effect of genetic variants beyond the categorical diagnosis. Data are available at https://genetrek.pasteur.fr/.

The present work covers the topic of strains and stresses prediction in case of welded steel structures. Steel sheets of 20 mm thickness made in UR™2507Cu are welded using a laser and gas metal arc welding processes combination. The focused laser beam leads the arc in a Y-shape chamfer geometry. Both sources are 20 mm apart from each other in order to avoid any synergic effect with each other. In order to predict residual strain, a 3D unsteady numerical simulation has been developed in COMSOL finite element software. A volume heat source has been identified based on the temperature measurements made by 10 K-type thermocouples, implanted inside the workpiece. The 50 mm deep holes are drilled in the workpiece using dye-sinking Electrical Discharge Machining (EDM) machine. Before the implantation in the hole, each thermocouple is surrounded by Inconel sheathing. Hot junctions of the thermocouples are positioned in a way to feel two advancing molten pools. The equivalent heat source is composed of three sources. First one is a Goldak source that represents the molten pool induced by gas metal arc welding. The second one is a cylinder with an elliptic cross-section that represents the focused laser beam penetrating into the workpiece. The third one is a surface Gaussian source that represents energy radiated by arc and blocked by workpiece surface. Concerning mechanical simulation, an elasto-plastic behavior with isotropic hardening is implemented. A weak coupling is established between equations governing heat transfer and mechanics thanks to the temperature dependent coefficient of linear expansion. This numerical simulation made with some simplifying assumptions predicts an angular distortion and a longitudinal shrinkage of the welded structure. The numerical results are consistent with the displacements measured by digital image correlation method.

Narrow gap arc welding is a common solution for the welding of thick structures. In this study, a defocused laser beam is used to pre-melt the narrow gap walls in front of an arc-welding bath. Such a welding configuration can be referred to a hybrid welding configuration. In the present work, a particular attention is given to evaluation of the interaction between an arc plasma and a defocused laser beam. High-speed imaging of the metal transfer through arc plasma is achieved thanks to a diode laser illumination system. Electrical arc parameters are logged, synchronously, in order to perform a correlation analysis and to make a diagnosis of the interaction level between laser beam and arc plasma.

The absence of intermetallic phases in Fe/Cu, Cu/Nb and Nb/Ti binary systems opens the possibility to obtain reliable joints between titanium alloys and steels by using a multimaterial copper/niobium insert. Continuous Yb:YAG laser welding of 1 mm thick titanium and 316L stainless steel plates through niobium/copper multimaterial insert was performed. The use of a 100 µm laser beam allowed producing isolated molten zones and thus completely avoiding the formation of brittle intermetallic phases, according to SEM and XRD analysis. The effect of energy per unit length applied to the niobium/copper welds on the mixing process and mechanical properties of the joints was investigated. A ductile fracture systematically occurred in the unmelted copper zone of the joints at maximal average UTS of 250 MPa.

Dans un contexte local de developpement de la ville intelligente marque par la mefiance a l’egard des grands operateurs prives et par un portage politique et organisationnel faible, quelques acteurs intermediaires d’une administration metropolitaine appartenant a des entites diverses elaborent de maniere informelle – et en quelque sorte, « par le bas » – une politique la donnee. Celle-ci consiste, a l’echelle locale, a mutualiser des ressources, a normaliser des donnees et produire des donnees « de reference », a faciliter l’interconnexion des services et « urbaniser » des systemes d’information, a favoriser la transmission et l’exploitation des donnees, ainsi qu’a deployer une « infrastructure-reseau » garantissant l’independance a l’egard des grandes entreprises. A la faveur de ces activites multiples, certains de ces agents administratifs se retrouvent en situation d’intermediation sociotechnique, fruit d’un travail de traduction qui en fait des intermediaires incontournables dans la production et la transmission des donnees, alors meme qu’ils ne beneficient d’aucune reconnaissance formelle ni d’aucun soutien hierarchique.

The increasing use of extracorporeal membrane oxygenation (ECMO) in critical care introduces new challenges with medication dosing. Voriconazole, a commonly used antifungal and the first-choice agent for the treatment of invasive aspergillosis, is a poorly water-soluble and highly protein-bound drug. Significant sequestration in ECMO circuits can be expected; however, no specific dosing recommendations are available. We report on the therapeutic drug monitoring and clinical evolution of a patient treated with voriconazole for invasive pulmonary aspergillosis while receiving ECMO therapy. Voriconazole trough levels were persistently low (

Background When new technology is integrated into a care pathway, it faces resistance due to the changes it introduces into the existing context. To understand the success or failure of digital health innovations, it is necessary to pay attention to the adjustments that users must perform to make them work, by reshaping the context and sometimes by altering the ways in which they perform activities. This adaptation work, most of which remains invisible, constitutes an important factor in the success of innovations and the ways in which they transform care practices. Objective This work aims to present a sociological framework for studying new health technology uses through a qualitative analysis of the different types of tasks and activities that users, both health professionals and patients, must perform to integrate these technologies and make them work in their daily routine. Methods This paper uses a three-part method to structure a theoretical model to study users’ invisible work. The first part of the method includes a thematic literature review, previously published by one of the coauthors, of major sociological studies conducted on digital health innovations integration into existing care organizations and practices. The second part extends this review to introduce definitions and applications of the users’ invisible work concept. The third part consists of producing a theoretical framework to study the concept according to the different contexts and practices of the users. Results The paper proposes four dimensions (organizational, interactional, practical, and experiential), each composed of a set of criteria that allow a comparative analysis of different users’ work according to different health technologies. Conclusions This framework can be applied both as an analytical tool in a research protocol and as an agenda to identify less visible adoption criteria for digital health technologies.

International audience; A series of single-track selective laser melting (SLM) experiments was carried out on IN718 plates with and without a powder layer and with different laser processing parameters (power and scan velocity) and surface conditions (original surface and sand blasted surface). The impacts of the powder, laser parameters, and surface conditions on the molten pool (MP) formation in SLM were systematically investigated through characterizations of the geometry of the resolidified MP, including width, depth, and area. Clear-cut correlations between the dimensions of the MP and the parameters were deduced from the measured data, such as between width/depth of the MP and the power of the laser beam, or between the area of the MP and the laser energy density. We also show that without a powder layer, an increased roughness of the surface consistently increases the MP cross-section area, whereas it has no impact for the cases with powder layer. Finally, the occurrence of defects, such as insufficient melting, unstable MP, and porosities/keyhole effect, is investigated and linked to the SLM parameters. We propose a processing map that defines the range of laser velocity and power for a defect-free solidification of the MP and the occurrence of the different types of defects.

International audience; The aim of the present work is to analyze the thermomechanical behavior of dissimilar laser seams by means of FE modeling. The case of a Ti6Al4V/316L assembly with vanadium insert was considered. Effective mechanical properties of the main materials and cords were first estimated from NHT measurements. Modeling of the double pass laser welding process was performed first by considering shrinking of the two weld seams during manufacturing, to get the residual stress state in the welded assembly. Modeling of the tensile test was performed in a second step to study the assembly behavior during loading. In these modeling results, the mesh was the cross-section of the micrograph of the assembly itself. The corresponding stress/strain curve was calculated and results were reported for the residual stress state after manufacturing as well as a stress state close to the Ultimate Tensile Strength.

BACKGROUND When new technology is integrated into a care pathway, it faces resistance due to the changes it introduces into the existing context. To understand the success or failure of digital health innovations, it is necessary to pay attention to the adjustments that users must perform to make them work, by reshaping the context and sometimes by altering the ways in which they perform activities. This adaptation work, most of which remains invisible, constitutes an important factor in the success of innovations and the ways in which they transform care practices. OBJECTIVE This work aims to present a sociological framework for studying new health technology uses through a qualitative analysis of the different types of tasks and activities that users, both health professionals and patients, must perform to integrate these technologies and make them work in their daily routine. METHODS This paper uses a three-part method to structure a theoretical model to study users’ invisible work. The first part of the method includes a thematic literature review, previously published by one of the coauthors, of major sociological studies conducted on digital health innovations integration into existing care organizations and practices. The second part extends this review to introduce definitions and applications of the users’ invisible work concept. The third part consists of producing a theoretical framework to study the concept according to the different contexts and practices of the users. RESULTS The paper proposes four dimensions (organizational, interactional, practical, and experiential), each composed of a set of criteria that allow a comparative analysis of different users’ work according to different health technologies. CONCLUSIONS This framework can be applied both as an analytical tool in a research protocol and as an agenda to identify less visible adoption criteria for digital health technologies.

Conventional methods used to inspect the molten pool surface induced by arc welding processes are based on post-welding evaluation using destructive or semi-destructive testing methods. Many attempts were performed to develop alternative and nondestructive tests. In this context, a polarimetric vision methodology is evaluated. The polarimetric parameters are measured from the thermal radiations emitted by the hot liquid metal at a wavelength within an arc plasma blind spectral window. The Stokes parameters and their segmentation within a Gaussian mixture model allow to discriminate artifacts at the surface of the liquid metal. After weld pool solidification, the use of scanning electron microscopy and energy dispersive spectroscopy allow to identify the artifacts, i.e., floating alumina particles.

Herbal and dietary supplements are frequently used as weight loss supplements. However, they account for 20% of drug-induced liver injury. Garcinia cambogia's (GC) active compound, hydroxycitric acid, can be found among those supplements. We report a 26-year-old woman who had been taking GC for 7 months when she presented with subacute liver failure and ultimately required a liver transplantation. This report highlights the risk of liver injury after long-term use of GC and demonstrates the importance of considering a close and prolonged monitoring of patients in a tertiary liver transplant center.

Purpose: To present the pharmacological evaluation process in a case of a polymedicated patient presenting with toxic epidermal necrolysis (TEN). Summary: A 75-year-old Caucasian polymedicated woman had been treated for hip pain with nonsteroidal anti-inflammatory drugs and pregabalin in the months preceding the apparition of an expanding papulo-erythematous rash. She had also started using new medicated eye drops for glaucoma. She presented to the emergency department of a regional hospital where all of her medications were stopped. The patient was transferred and admitted to a tertiary-care teaching hospital’s specialized burn unit for significant cutaneous detachment. It was estimated that 70% to 80% of the body surface area was affected. Skin biopsy showed keratinocyte necrosis with a partial detachment of the epidermis leading to a diagnosis of TEN. The reaction ceased to progress 2 days after the discontinuation of her medications. A complete reepithelialization was objectified after 10 days. A series of steps were followed by the hospital pharmacist to determine which drugs were the most probable culprits. A complete pharmacological history was obtained and a timeline for medication use in the 3 months preceding rash apparition was established. A review of the literature was done to determine the drugs’ relationships to Steven-Johnson syndrome or TEN. Using the algorithm of drug causality for epidermal necrolysis (ALDEN) score, it was determined that naproxen, pregabalin, and brinzolamide–timolol drops were all possible culprits. Conclusion: A systematic method for pharmacological evaluation of a polymedicated patient with TEN is presented. Naproxen, pregabalin, and brinzolamide–timolol drops were all retained as possible culprits.

Niobium and vanadium have high metallurgical compatibility with titanium and therefore can be used as inserts to avoid the accumulation of brittle intermetallic phases such as Fe2Ti during the fusion welding of titanium alloys with steels. In the present study, the continuous double pass welding of 1 mm thick Ti-6Al-4V alloy and 316 L stainless steel plates through several mm wide pure vanadium or niobium insert was studied. In case of a vanadium insert, a beam offset on the vanadium was found to produce cold crack formation in vanadium/316 L melted zones containing more than 40 wt.% V despite the absence of σ phase. Whereas a centered beam position and offset on the steel side produced crack-free melted zones still composed of (Fe, V) solid solutions, and exhibiting a ductile fracture in the unmelted vanadium insert at UTS of 493 ± 25 MPa. The niobium insert produced brittle niobium/316 L melted zones with UTS of 160 ± 10 MPa, because of the formation of Fe2Nb and Fe7Nb6 layers at the niobium/316 L interface. The addition of a copper insert between niobium and steel allowed avoiding the development of Fe-Nb brittle intermetallics thanks to the absence of brittle phases in Cu-Nb system. For optimal welding conditions, a ductile fracture occurred in the copper interlayer at maximal UTS of 255 ± 10 MPa.

Introduction Telemedicine is a remote medical practice that is progressively expanding in France. In 2018, regulatory changes authorised telemedicine to become part of daily clinical practice. Telemedicine education and training (ET), however, has not been widespread, despite its integration in the medical curriculum since 2009. The objective of this study was to examine the self-perceived knowledge, attitudes and practices (KAP) and ET of telemedicine ET from medical students and residents in France. Methods A national survey was distributed online (15 December 2018 to 3 March 2019) to approximately 135,000 medical students and residents in medical schools ( n = 38). The survey consisted of a total of 24 binary and Likert-scale questions covering telemedicine ET and KAP. Results In total, 3,312 medical students and residents completed the survey. Synchronous video consultation was the most well-known telemedicine activity (86.9%); asynchronous tele-expertise was the least recognised (40.3%). Most respondents (84.8%) stated they were not familiar with telemedicine regulations. The relevance of telemedicine for improving access to care was acknowledged by 82.8% of students and residents; 14% of respondents stated they had previously practised telemedicine during their studies; 14.5% stated they had received telemedicine ET; however, 97.9% stated they were not sufficiently trained. Discussion This is the first national scale study on telemedecine ET by medical students and residents, to date. Despite positive attitudes, participants were found to have limited telemedicine ET, knowledge and practices. The demand for telemedicine ET is increasing. Such studies that incorporate the perspectives of medical students and residents may strengthen the implementation of telemedicine ET in the future.

Introduction Stevens-Johnson syndrome and toxic epidermal necrolysis are severe cutaneous drug eruptions characterized by epidermal detachment. Pembrolizumab is a monoclonal antibody that binds to the programmed death-1 receptor, and it has been associated with numerous cutaneous adverse side-effects, including Stevens-Johnson syndrome. Case report We describe a 63-year-old male with metastatic lung adenocarcinoma who developed a rapidly progressing maculopapular rash three days after a first dose of pembrolizumab. On day 16, the rash affected more than 80% of body surface area with detachment of large sheets of necrolytic epidermis in 30–40% of body surface area. However, the patient only presented with mild mucosal involvement. Histopathologic examination of a skin biopsy showed a subepidermal blister with overlying prominent full thickness epidermal keratinocytic necrosis and a superficial perivascular infiltrate of lymphocytes. A toxic epidermal necrolysis secondary to pembrolizumab was then diagnosed. Management and outcome: In addition to supportive cares, the patient received corticosteroids and cyclosporine. The patient responded rapidly to the immunosuppressant therapy, and nearly complete re-epithelialization was achieved 24 days after the start of the reaction. Discussion In our review of the literature, 15 other cases of Stevens-Johnson syndrome/toxic epidermal necrolysis were reported with programmed death-1/programmed cell death ligand-1 inhibitors. To our knowledge, this is the first case of toxic epidermal necrolysis secondary to pembrolizumab published in the literature. The American Society of Clinical Oncology guidelines suggest that cyclosporine, in addition to corticosteroids, be initiated when toxic epidermal necrolysis is suspected. Clinicians should be aware of this rare dermatological emergency with the increasing use of pembrolizumab in oncology.

The number of genes associated with autism is increasing, but few studies have been performed on epidemiological cohorts and in isolated populations. Here, we investigated 357 individuals from the Faroe Islands including 36 individuals with autism, 136 of their relatives and 185 non-autism controls. Data from SNP array and whole exome sequencing revealed that individuals with autism had a higher burden of rare exonic copy-number variants altering autism associated genes (deletions (p = 0.0352) or duplications (p = 0.0352)), higher inbreeding status (p = 0.023) and a higher load of rare homozygous deleterious variants (p = 0.011) compared to controls. Our analysis supports the role of several genes/loci associated with autism (e.g., NRXN1, ADNP, 22q11 deletion) and identified new truncating (e.g., GRIK2, ROBO1, NINL, and IMMP2L) or recessive deleterious variants (e.g., KIRREL3 and CNTNAP2) affecting autism-associated genes. It also revealed three genes involved in synaptic plasticity, RIMS4, KALRN, and PLA2G4A, carrying de novo deleterious variants in individuals with autism without intellectual disability. In summary, our analysis provides a better understanding of the genetic architecture of autism in isolated populations by highlighting the role of both common and rare gene variants and pointing at new autism-risk genes. It also indicates that more knowledge about how multiple genetic hits affect neuronal function will be necessary to fully understand the genetic architecture of autism., Genetic correlates of autism in natives of remote islands A study of the genetic architecture of autism among people living on the remote Faroe Islands highlights the role of both common and rare gene variants to autism. Claire Leblond from the Institut Pasteur in Paris, France, and colleagues profiled the genetics of 357 Faroese individuals, including 36 with autism, 136 of their relatives and 185 non-autistic controls. Similar to the findings of genetic studies of autism from elsewhere, the researchers discovered rare structural variants in known autism-associated genes and a few new candidate genes linked to brain function. However, unlike studies from larger mainland populations, they also showed that inbreeding on these remote islands increased the likelihood of carrying two copies of the point mutations that contribute to autism.

Les dispositifs de teleconsultation en sante mentale qui se developpent sur Internet offrent des conditions d’interaction particulieres contribuant a la transformation des pratiques et de la relation psychotherapeutiques. Le cadre physique et symbolique de cette relation est bouleverse, les conditions d’observabilite et d’audibilite mutuelles sont moins bonnes qu’en face-a-face, les praticiens eprouvent, de diverses manieres, une impression de distance dans la relation au patient. Le nouveau cadre psychotherapeutique, du fait d’une plus grande ouverture, mais aussi des petits dysfonctionnements techniques qui surgissent lors des seances, rend les interactions plus fragiles – au sens ou celles-ci peuvent etre perturbees ou interrompues plus facilement qu’au cours du face-a-face se deroulant dans l’espace protege du cabinet. Des efforts d’attention soutenus doivent aussi etre developpes pour capter les divers elements d’information produits par le patient – qui se font plus rares lors des teleconsultations. Enfin, les intuitions cliniques se manifestent differemment et les praticiens doutent plus qu’a l’habitude de la qualite de leur jugement et de leurs hypotheses diagnostiques, ce qui les conduit a poser plus de questions et a laisser moins de place au silence et a son interpretation. Mais le fait meme que les intuitions cliniques puissent se manifester lors des teleconsultations contribue a l’etablissement d’une relation empathique et, partant, a la realisation du travail psychotherapeutique a distance.

Direct butt joining of pure titanium to 316L stainless steel with continuous Yb:YAG laser was performed with variation of the beam offset from joint line. Mechanical properties of samples were evaluated by tensile tests and three-point flexural tests. The fractured surfaces and cross sections of welds were examined by scanning electron microscopy (SEM), energy dispersive spectroscopy (EDS) and X-ray diffraction (XRD). Tensile properties of welds were strongly determined by the beam offset from joint line and are well described by Weibull statistics. Ultimate tensile strength of 174 ± 69 MPa and ultimate flexural strength of 297 ± 48 MPa were obtained. Brittle fracture took place in the diffusive interface rich in λ 1 and FeTi phases.

La télésurveillance est de plus en plus utilisée dans le suivi des patients, car on attend d’elle qu’elle apporte des améliorations substantielles concernant les relevés de mesures, la collecte de données, l’efficience thérapeutique et les options de communication dont disposent les patients. Cependant, les études en STS (Science and Technology Studies) ont montré que, fréquemment, les nouvelles technologies ne sont pas à la hauteur des attentes qu’elles suscitent et qu’elles peuvent mener à des résultats imprévus. Nous adoptons ici une démarche ethnographique pour étudier un cas dans lequel le personnel soignant a introduit un « journal de symptômes » dans le protocole de soins palliatifs. Nous avons observé que les attentes du personnel soignant ne correspondent pas à l’usage concret du dispositif par les patients. De plus, le personnel soignant s’est rendu compte que l’usage du journal contredisait les idéaux de qualité de soins qui sont au cœur de leur pratique. Enfin, le dispositif comprend une « extra-technologie », la webcam, qui a également apporté son lot de difficultés et de surprises. Si les attentes des soignants ont été déçues, ces derniers se sont adaptés aux pratiques réelles des patients et, consécutivement, ont ajusté leurs attentes. Cette étude contribue ainsi à la connaissance des écarts existant entre les attentes et la pratique, et à celle des modes de gestion de ces écarts par le personnel soignant et les patients.

International audience; This paper presents a passive polarimetry method using a division of aperture optical device in order to segment the weld pool surface of the welding. Due to the high specularity of the surface of the weld pool, we use polarimetric data in order to facilitate it's segmentation in the liquid state. In this paper, we propose to combine two segmentation methods: Watershed Transform and the Level Set to ensure a better result. Our ultimate goal of this study is to provide real-time quality control of the surface of molten metal during the welding process while utilizing the additional information provided by the polarimetric data.Polarimetric imaging; segmentation; specular surface; welding process; weld pool surfaceTRANSPARENT OBJECTS; SURFACE ORIENTATIONS; POLARIZATION STATE

Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with heterogeneous degrees of severity, including intellectual disability (ID), absent or delayed speech, and autism spectrum disorders (ASD). It results from a deletion of the distal part of chromosome 22q13 that in most cases includes the SHANK3 gene. SHANK3 is considered a major gene for PMS, but the factors that modulate the severity of the syndrome remain largely unknown. In this study, we investigated 85 patients with different 22q13 rearrangements (78 deletions and 7 duplications). We first explored the clinical features associated with PMS, and provide evidence for frequent corpus callosum abnormalities in 28% of 35 patients with brain imaging data. We then mapped several candidate genomic regions at the 22q13 region associated with high risk of clinical features, and suggest a second locus at 22q13 associated with absence of speech. Finally, in some cases, we identified additional clinically relevant copy-number variants (CNVs) at loci associated with ASD, such as 16p11.2 and 15q11q13, which could modulate the severity of the syndrome. We also report an inherited SHANK3 deletion transmitted to five affected daughters by a mother without ID nor ASD, suggesting that some individuals could compensate for such mutations. In summary, we shed light on the genotype-phenotype relationship of patients with PMS, a step towards the identification of compensatory mechanisms for a better prognosis and possibly treatments of patients with neurodevelopmental disorders., The underlying genetics of Phelan-McDermid syndrome Multiple chromosomal changes may impact the severity of symptoms in people with Phelan-McDermid syndrome (PMS). Thomas Bourgeron of the Institut Pasteur and colleagues in France conducted genomic analyses and explored the clinical features of 85 people with PMS, a condition caused by a deletion in the long arm of chromosome 22. It is often associated with severe symptoms such as intellectual disability, autism, and seizures. The chromosomal changes in 65% of those studied were not inherited. MRI brain scans showed visible abnormalities in 23 of 35 patients imaged. The size of the chromosomal deletion varied. Patients with small deletions were more likely to have autistic symptoms while those with large deletions were more likely to be unable to talk. The team also identified genes in chromosome 22 and in other regions of the genome that could modify the severity of PMS symptoms.

International audience; Background. Autism and synesthesia are neurodevelopmental conditions associated with variants of perceptual processing. They also share some genetic variants and include a large magnitude of intra-categorical variation: 60 types for synesthesia, as well as a spectrum for autism. In order to investigate the relationship between these two phenomena, we investigated the family of FC, an autistic individual who also possess savant abilities and synesthesia manifestations. Method. Autistic symptoms were assessed for the entire sample of participants entering the study (39 individuals) using the SRS. Participants above threshold were evaluated with standardized diagnostic tools. Synesthesia was explored in the entire participating sample using a self-reported questionnaire. Consistency tests were used for participants who reported synesthetic manifestations. Results. In addition to FC, four individuals with ASD were detected. Fifteen participants selfreported synesthesia (15 sequence-space, 4 sound-shape, 4 lexical-color), among which nine sequence-space synesthetes satisfied the consistency criteria. Two participants possess both autism and synesthesia. Conclusion. This family illustrates the co-segregation of autism and synesthesia. This cosegregation is in favour of a partially overlapping genetic predisposition for both conditions, but also authorizes a large variety of manifestations in both conditions. The high prevalence of sequence-space synesthesia in this family strengthens the previous assumption that this form of synesthesia may be linked to autism. We discuss the potential role of spatial imagery in the development of this form of synesthesia and savant abilities.

Introduction Telemedicine is a remote medical practice using information communication technology (ICT), and has been increasing in France since 2009. With all new forms of medical practice, education and training (ET) is required for quality and safety. To date, implementation of telemedicine ET has not been assessed in France. The objective of this study was to describe the implementation of telemedicine ET and evaluate the knowledge, attitudes and practices (KAP) of deans and associate deans from all medical schools in France. Methods A cross-sectional non-mandatory, descriptive online survey with a self-administered questionnaire was performed from 15 November to 6 December, 2017. Respondents were accessed through the ‘ Conférence des doyens des Facultés de médecine’. Results There were 48 respondents with a 47.4% response rate among deans. Telemedicine ET was limited in France; 10.4% in 1st year medicine (PACES); 4% in the final 3 years of medical school (D.F.A.S.M.) and 18.8% in medical residency. Emergency medicine, dermatology, radiology, neurology and geriatrics were specialties with implemented telemedicine training during residency. Of all respondents, 90% expressed a need to increase telemedicine ET, among which 75% accepted external support. A highly positive attitude towards telemedicine practice was reflected by 60.4% of respondents, and 56.2% practiced telemedicine at least once. Discussion This study was the first to assess national telemedicine ET implementation in France. Telemedicine was integrated into initial medical education; however, telemedicine ET remains limited despite the positive attitudes of deans and associate deans. Further research would need to be conducted on telemedicine ET implementation and KAP of medical students and residents.

International audience; Heterogeneous welding has been investigated for three different couples of titanium alloys: α/α + β, α/β,andα + β/β. Plates of 100 × 60 mm and 1.6 or 1.8 mm thick were welded with a Yb:YAG laser. Tensile tests show that the resistance of the heterogeneous welded specimens was generally controlled by those of the weakest material except for the α + β/β where the ultimate tensile strength was approximately equal to the average value of both materials. In every case, the elongation of the welded sample was found to be smaller than that of the base metals. The rupture generally took place outside the weld metal and was found to be most of the time located in the alloy having the lowest mechanical properties. Nevertheless, a few large-size porosities detected by tomography in the α + β/β couple could explain why rupture for these samples occurred in the weld bead. For each couple, the porosities were situated at the board between the heat-affected zone and the molten zone. EBSD maps and EDX enabled the observation of different microstructures, which could be correlated to the heterogeneous composition and diffusion into the melted bath. When the stable microstructure of one of the couple alloys is the β phase, the molten zone of the bead consists of an alternative disposition of thin layers made of large equiaxed β grains and nano-martensite α′. That is explained by the weak diffusion of the alloying elements.

International audience; Contactin genes CNTN5 and CNTN6 code for neuronal cell adhesion molecules that promote neurite outgrowth in sensory-motor neuronal pathways. Mutations of CNTN5 and CNTN6 have previously been reported in individuals with autism spectrum disorders (ASDs), but very little is known on their prevalence and clinical impact. In this study, we identified CNTN5 and CNTN6 deleterious variants in individuals with ASD. Among the carriers, a girl with ASD and attention-deficit/hyperactivity disorder was carrying five copies of CNTN5. For CNTN6, both deletions (6/1534 ASD vs 1/8936 controls; P=0.00006) and private coding sequence variants (18/501 ASD vs 535/33480 controls; P=0.0005) were enriched in individuals with ASD. Among the rare CNTN6 variants, two deletions were transmitted by fathers diagnosed with ASD, one stop mutation CNTN6(W923X) was transmitted by a mother to her two sons with ASD and one variant CNTN6(P770L) was found de novo in a boy with ASD. Clinical investigations of the patients carrying CNTN5 or CNTN6 variants showed that they were hypersensitive to sounds (a condition called hyperacusis) and displayed changes in wave latency within the auditory pathway. These results reinforce the hypothesis of abnormal neuronal connectivity in the pathophysiology of ASD and shed new light on the genes that increase risk for abnormal sensory perception in ASD.

International audience; Autism spectrum disorder (ASD) is a set of neurodevelopmental conditions characterized by early-onset difficulties in social communication and unusually restricted, repetitive behavior and interests. Parental consanguinity may lead to higher risk of ASD and to more severe clinical presentations in the offspring. Studies of ASD families with high inbreeding enable the identification of inherited variants of this disorder particularly those with an autosomal recessive pattern of inheritance. In our study, using copy number variants (CNV) analysis, we identified a rare homozygous deletion in 2p11.2 region that affects ELMOD3, CAPG, and SH2D6 genes in a boy with ASD, intellectual disability (ID), and hearing impairment (HI). This deletion may reveal a new contiguous deletion syndrome in which ELMOD3, known to be implicated in autosomal recessive deafness underlies the HI of the proband and CAPG, member of actin regulatory proteins involved in cytoskeletal dynamic, an important function for brain development and activity, underlies the ASD/ID phenotype. A possible contribution of SH2D6 gene, as a part of a chimeric gene, to the clinical presentation of the patient is discussed. Our result supports the implication of ELMOD3 in hearing loss and highlights the potential clinical relevance of 2p11.2 deletion in autism and/or intellectual disability.

International audience; Ce numéro de Réseaux porte sur la diffusion de la télémédecine et le développement de ses usages. Il vise à rendre compte des avancées des recherches en sciences sociales sur ce thème, tout en proposant des articles basés sur des cas originaux, dans une logique cumulative. Il cherche aussi à mettre en perspective les enjeux liés au développement de la télémédecine pour les acteurs concernés (institutionnels, médecins, soignants, patients, etc.) et la société dans son ensemble.

International audience; Les ressorts et les effets du développement de la télémédecine restent pour une large part à découvrir, même si la fécondité des travaux entrepris du côté des sciences sociales et des Science and Technology Studies (STS) au plan international depuis le début des années 2000 est remarquable. Dans cet article, nous présenterons tout d’abord les recherches consacrées aux transformations liées à l’intégration des dispositifs de télémédecine dans les organisations de soins. Dans un second temps, nous rendrons compte des travaux portant sur les usages concrets de ces dispositifs dans le cadre de la pratique clinique. Seront ainsi passées en revue les principales recherches de sciences sociales qui se sont intéressées à la télémédecine, ainsi que les voies d’investigation à explorer pour mettre en évidence ses transformations et son – difficile – déploiement : modalités d’organisation des soins, de pilotage des projets et d’appropriation ou de rejet de l’innovation, inscription spatiale des dispositifs, caractère situé et distribué des pratiques et des savoirs, formes de coopération, de délégation et d’apprentissage, identités professionnelles, etc. Chacune de ces thématiques pourrait être approfondie, souvent de façon combinée, pour rendre compte du développement de la télémédecine en France, qui demeure aujourd’hui encore peu étudié par les sciences humaines et sociales.

With traditional capillary blood glucose readers, diabetes patients puncture a fingertip and measure the level of glucose in the blood sample. More recently, continuous blood glucose measuring devices have become available, which not only show current blood sugar levels, but also upward and downward trends and changes over the past few hours. The aim of our analysis is to describe the specific effects of the use of these diabetes self-monitoring systems on “patient work” and on the illness experience. We will show how their use is accompanied by different forms of personal experiment and learning and reconfigures “patient work” by partially releasing patients from certain social, material, spatial, corporeal and cognitive constraints. Because these systems produce and represent data on blood sugar levels over different timeframes, patients can develop new ways of interpreting their symptoms and different ways of anticipating short-term blood glucose fluctuations. Other forms of reflexivity and self-knowledge thus emerge, bringing changes in the temporality of the day-to-day illness experience, and potentially leading to adjustments in treatment and a reduction in some of the anxieties associated with the disorder.

A l’aide du lecteur de glycemie capillaire, les personnes diabetiques prelevent une goutte de sang en piquant l’extremite d’un de leurs doigts et realisent une mesure ponctuelle de leur glycemie qui leur permet de connaitre le taux de sucre present dans leur sang a un instant precis. Apparus plus recemment, les lecteurs de glucose en continu ont quant a eux pour particularite de presenter, outre la valeur ponctuelle de la glycemie, sa tendance a la hausse ou a la baisse et son evolution au cours des dernieres heures. L’objectif de notre analyse est de rendre compte des effets specifiques de l’utilisation de ces dispositifs d’autosurveillance du diabete sur le « travail du patient » et sur son experience de la maladie. Nous montrerons comment leurs usages s’accompagnent de diverses formes d’experimentation personnelle et d’apprentissage et reconfigurent le « travail du patient », en le deliant en partie de certaines contraintes sociale, materielle, spatiale, corporelle et cognitive. Parce que ces dispositifs permettent de produire et de representer selon des temporalites diverses des donnees concernant la glycemie, les patients peuvent developper de nouvelles modalites d’interpretation de leurs symptomes et anticiper l’evolution a court terme de leur glycemie differemment. D’autres formes de reflexivite et de connaissance de soi emergent ainsi a la faveur des transformations de la temporalite de l’experience quotidienne de la maladie et peuvent conduire a des adaptations du traitement et a la reduction de certaines craintes associees a la pathologie.

This paper presents a vision-based approach for wire extension measurement and melt pool detection. The image analysis applies on the image sequences, which are extracted from a recorded welding video. The algorithms have been developed using the image processing combining profile analysis, intensity thresholding, region growing, filtering, and morphology. The goal is to use these computed parameters to help in welding control and defect examination. The software runs automatically and has been verified on various videos from different welding experiments. The resulting data are also represented and compared with chronological knowledge to improve the reliability of the system.