Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of photoreceptor function and contributes significantly to the etiology of blindness globally but especially in the industrialized world. The extreme locus and allelic heterogeneity of these disorders poses a major diagnostic challenge and often impedes the ability to provide a molecular diagnosis that can inform counseling and gene-specific treatment strategies. In a large cohort of nearly 150 RD families, we used genomic approaches in the form of autozygome-guided mutation analysis and exome sequencing to identify the likely causative genetic lesion in the majority of cases. Additionally, our study revealed six novel candidate disease genes (C21orf2, EMC1, KIAA1549, GPR125, ACBD5, and DTHD1), two of which (ACBD5 and DTHD1) were observed in the context of syndromic forms of RD that are described for the first time

Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries

Background Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres. Methods This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries. Results In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia. Conclusion This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries

Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries

Abstract Background Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres. Methods This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries. Results In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia. Conclusion This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries

Analyse des facteurs influençant l'émergence des pratiques de télémédecine: le cas des maisons de santé en France

International audienc

Water and land security in drylands : response to climate change

Groundwater is a key component for the development of semi-arid areas where surface water resources are scarce. Water managers need knowledge about water reserves to cope with their multiple constraints. In the Merguellil basin (Central Tunisia), the Kairouan plain aquifer supplies water for a rapidly growing irrigated agriculture economy but recharge processes are still poorly known. The present paper investigates groundwater transfers from upstream aquifers to the Kairouan plain through the hydraulic threshold of El Haouareb. A conceptual geological 3D model based on lithologs analyses was built. Two steady state groundwater models were run using Feflow code in high and low flow conditions. Results suggest that the limestone aquifer that ensures hydraulic connectivity between the upstream and downstream aquifers behaves like a dual-porosity medium with highly significant preferential groundwater flow paths and cannot be simulated as an equivalent porous media

Growth and characterization of Cu2ZnxFe1-xSnS4 thin films deposited on n-type silicon substrates

International audienceCu2FeSnS4 and Cu2ZnSnS4 ingots were successfully grown by direct melting of their high-purity constituent elements from stoichiometric compositions (copper, iron, zinc, tin and sulfide). Subsequently, thin films of CFTS and CZTS were deposited on unheated n-type silicon substrates through the vacuum evaporation method. These deposited films were sulfided for 30 min at a sulfidation treatment temperature Ts = 400 °C. The structural properties of the C (Z, F)TS thin films were studied by X-ray diffraction (XRD), Raman spectroscopy and electron backscatter diffraction (EBSD). The resulting studies suggest the existence of polycrystalline phases where CZTS has a kesterite structure and CFTS a stannite structure. Composition analysis also indicates that the synthesized C (Z,F)TS powders are close to the expected stoichiometry. A good crystallinity of CZTS followed by an increase in the average roughness value of this film is highlighted in the thin film micrographs of C (Z,F)TS. Furthermore, the Hall effect indicates that the prepared C (Z,F)TS films exhibit a manifest p-type semiconductor, and the conductivity, mobility and carrier charge concentration are higher for the CZTS thin film. The electrical conductivity of the CFTS and CZTS thin films were investigated using the impedance spectroscopy technique in the frequency range 5 Hz–13 MH. Values of activation energy are indicative of thermal activation of the conduction mechanism by jumping between localized states. Further, the analysis of the frequency and temperature dependence of the AC conductivity supports the correlated barrier hopping (CBH) model