22 research outputs found

    Video Evaluation of Self-Regulation Skills in Preschool Aged Children with Developmental Delays: Can the impact of Tumbling Together be Measured?

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    OBJECTIVES This study evaluated the feasibility of video recording to evaluate an innovative, multi-disciplinary exercise medicine intervention, called Tumbling TogetherTM, on the self-regulation skills required for successful group participation. METHODS A photographer, who did not interact with participants and maintained a consistent position outside of the program area, used a digital video camera to record the program activities. Response to a stop command (attempts after the signal), ability to wait for a turn (yes/no), and ability to line up (correct/incorrect position) were the indicators of self-regulation. Video recordings were analyzed to determine each child’s baseline (first two sessions) and post-program (last two sessions) abilities. Chisquare and t-tests identified differences in performance from beginning to end of the program. RESULTS Video recordings were analyzed for 27 children (3 (11%) female, 3.1 to 4.8 years of age) with complex communication/developmental challenges. Response to a stop command improved by 38% (Pre: 2.1 ± 0.9; Post: 1.3 ± 0.4; p<.001). Correct response to a line up signal improved from 26% to 89% (p<.001). The ability to wait for a turn when required increased from 7% to 80% (p<.001). CONCLUSIONS Video recordings suitable for analysis were obtained during all sessions. Children’s skills performed during the first two classes were similar. Their skills improved between the start and end of the program. Video recordings accurately reflected the improved performance subjectively reported by therapists and parents. Therefore, video recording appears to be an appropriate method of evaluating the impact of exercise medicine interventions, such as Tumbling TogetherTM, that are designed to enhance the self-regulation skills of preschool children. Research comparing Tumbling participants to children not offered the program, and examining whether the self-regulation skills improved during Tumbling participation would generalize to other settings is required

    An international tool to measure perceived stressors in intensive care units: the PS-ICU scale.

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    Background The intensive care unit is increasingly recognized as a stressful environment for healthcare professionals. This context has an impact on the health of these professionals but also on the quality of their personal and professional life. However, there is currently no validated scale to measure specific stressors perceived by healthcare professionals in intensive care. The aim of this study was to construct and validate in three languages a perceived stressors scale more specific to intensive care units (ICU). Results We conducted a three-phase study between 2016 and 2019: (1) identification of stressors based on the verbatim of 165 nurses and physicians from 4 countries (Canada, France, Italy, and Spain). We identified 99 stressors, including those common to most healthcare professions (called generic), as well as stressors more specific to ICU professionals (called specific); (2) item elaboration and selection by a panel of interdisciplinary experts to build a provisional 99-item version of the scale. This version was pre-tested with 70 professionals in the 4 countries and enabled us to select 50 relevant items; (3) test of the validity of the scale in 497 ICU healthcare professionals. Factor analyses identified six dimensions: lack of fit with families and organizational functioning; patient- and family-related emotional load; complex/at risk situations and skill-related issues; workload and human resource management issues; difficulties related to team working; and suboptimal care situations. Correlations of the PS-ICU scale with a generic stressors measure (i.e., the Job Content Questionnaire) tested its convergent validity, while its correlations with the Maslach Burnout Inventory-HSS examined its concurrent validity. We also assessed the test–retest reliability of PS-ICU with intraclass correlation coefficients. Conclusions The perceived stressors in intensive care units (PS-ICU) scale have good psychometric properties in all countries. It includes six broad dimensions covering generic or specific stressors to ICU, and thus, enables the identification of work situations that are likely to generate high levels of stress at the individual and unit levels. For future studies, this tool will enable the implementation of targeted corrective actions on which intervention research can be based. It also enables national and international comparisons of stressors’ impact.post-print925 K

    A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

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    BACKGROUND: Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop a targeted next-generation sequencing (NGS) assay to diagnose mutations and potentially identify novel genes mutated in this group of disorders. METHODS: We designed an NGS gene panel that targets 585 known and candidate genes in orodental disease. We screened a cohort of 101 unrelated patients without a molecular diagnosis referred to the Reference Centre for Oro-Dental Manifestations of Rare Diseases, Strasbourg, France, for a variety of orodental disorders including isolated and syndromic amelogenesis imperfecta (AI), isolated and syndromic selective tooth agenesis (STHAG), isolated and syndromic dentinogenesis imperfecta, isolated dentin dysplasia, otodental dysplasia and primary failure of tooth eruption. RESULTS: We discovered 21 novel pathogenic variants and identified the causative mutation in 39 unrelated patients in known genes (overall diagnostic rate: 39%). Among the largest subcohorts of patients with isolated AI (50 unrelated patients) and isolated STHAG (21 unrelated patients), we had a definitive diagnosis in 14 (27%) and 15 cases (71%), respectively. Surprisingly, COL17A1 mutations accounted for the majority of autosomal-dominant AI cases. CONCLUSIONS: We have developed a novel targeted NGS assay for the efficient molecular diagnosis of a wide variety of orodental diseases. Furthermore, our panel will contribute to better understanding the contribution of these genes to orodental disease. TRIAL REGISTRATION NUMBERS: NCT01746121 and NCT02397824.journal articleresearch support, non-u.s. gov't2016 Feb2015 10 26importe

    Employing non-targeted interactomics approach and subcellular fractionation to increase our understanding of the ghost proteome

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    Summary: Eukaryotic mRNA has long been considered monocistronic, but nowadays, alternative proteins (AltProts) challenge this tenet. The alternative or ghost proteome has largely been neglected and the involvement of AltProts in biological processes. Here, we used subcellular fractionation to increase the information about AltProts and facilitate the detection of protein-protein interactions by the identification of crosslinked peptides. In total, 112 unique AltProts were identified, and we were able to identify 220 crosslinks without peptide enrichment. Among these, 16 crosslinks between AltProts and Referenced Proteins (RefProts) were identified. We further focused on specific examples such as the interaction between IP_2292176 (AltFAM227B) and HLA-B, in which this protein could be a potential new immunopeptide, and the interactions between HIST1H4F and several AltProts which can play a role in mRNA transcription. Thanks to the study of the interactome and the localization of AltProts, we can reveal more of the importance of the ghost proteome

    Root Architectural Trait Diversity in Aubergine (Solanum melongena L.) and Related Species and Correlations with Plant Biomass

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    Background: We investigated root architecture and plant biomass traits of 25 aubergine genepool accessions representative of 9 Solanum L. species, including S. melongena L., grown at two sites in South-East France in order to quantify the diversity of root phenotypes, identify correlations between traits and determine the influence of the environment on trait stability. Method: Aubergine seeds were sown in a mixture of sieved compost and vermiculite in 1m high PVC tubes of 10 cm diameter. Roots and aerial parts were harvested after 4–5 weeks growth. Measured root traits included: root depth and root growth rate, maximum apical diameter, minimum apical diameter, the ratio of daughter to mother root apical diameter, and root inter-lateral distance. Results: ‱ Root maximum diameter and inter-lateral distance showed the largest phenotypic variability between the accessions of S. melongena as well as between the 9 Solanum species. ‱ Most traits were significantly affected by the experimental site except root maximum diameter and shoot dry weight accumulation per day. For most traits there was an interaction between the genotype and the site. ‱ Maximum root diameter and the ratio of daughter to mother root diameter are not correlated with other traits whereas root inter-lateral distance correlates with several traits including root fresh weight. Conclusions: Root architectural traits show diversity within S. melongena and between S. melongena and related species. We confirm that root maximum diameter one of the traits with the highest heritability, i.e., depends on the genotype and is stable in different environments and that root inter-lateral distance is a plastic trait affected by the environment. The study gives some indications on accessions that could be chosen as rootstocks

    NEWGAIN project at GANIL-SPIRAL2 : design of the new heavy ion injector for the superconducting linac

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    International audienceA new project, NEWGAIN (NEW GAnil Injector), is under development at GANIL, and aims to build a second injector for heavier beams with A/q up to 7, as an extension of the SPIRAL2 accelerator. With this upgrade, SPIRAL2 will provide high intensity beams, from proton to uranium, thus increasing GANIL international competitiveness both in fundamental science and associated applications. This paper presents the layout and describes the main technical components of the new injector, based on 2 ECR ion sources (one of them existing), two LEBT, one RFQ and a MEBT section to transport the beam into the present MEBT connected to the LINAC

    A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

    No full text
    International audienceBackground Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop a targeted next-generation sequencing (NGS) assay to diagnose mutations and potentially identify novel genes mutated in this group of disorders. Methods We designed an NGS gene panel that targets 585 known and candidate genes in orodental disease. We screened a cohort of 101 unrelated patients without a molecular diagnosis referred to the Reference Centre for Oro-Dental Manifestations of Rare Diseases, Strasbourg, France, for a variety of orodental disorders including isolated and syndromic amelogenesis imperfecta (AI), isolated and syndromic selective tooth agenesis (STHAG), isolated and syndromic dentinogenesis imperfecta, isolated dentin dysplasia, otodental dysplasia and primary failure of tooth eruption. Results We discovered 21 novel pathogenic variants and identified the causative mutation in 39 unrelated patients in known genes (overall diagnostic rate: 39%). Among the largest subcohorts of patients with isolated AI (50 unrelated patients) and isolated STHAG (21 unrelated patients), we had a definitive diagnosis in 14 (27%) and 15 cases (71%), respectively. Surprisingly, COL17A1 mutations accounted for the majority of autosomal-dominant AI cases. Conclusions We have developed a novel targeted NGS assay for the efficient molecular diagnosis of a wide variety of orodental diseases. Furthermore, our panel will contribute to better understanding the contribution of these genes to orodental disease. Trial registration numbers NCT01746121 and NCT0239782

    Maintenance darunavir/ritonavir monotherapy to prevent perinatal HIV transmission, ANRS-MIE 168 MONOGEST study

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    International audienceObjectives: Because NRTIs can have fetal toxicities, we evaluated a perinatal NRTI-sparing strategy to prevent perinatal HIV transmission. Our primary objective was to determine the proportion maintaining a viral load (VL) of 50 copies/mL. Neonates received nevirapine prophylaxis for 14 days.Results: Of 89 patients switching to darunavir/ritonavir monotherapy, 4 miscarried before 22 weeks' gestation, 2 changed treatment for elevated liver enzymes without virological failure, and 83 were evaluable for the main outcome. Six had virological failure confirmed on a repeat sample (median VL=193 copies/mL; range 78-644), including two before switching to monotherapy. In these six cases, ART was intensified with tenofovir disoproxil fumarate/emtricitabine. The success rate was 75/83, 90.4% (95% CI, 81.9%-95.7%) considering two patients with VL missing at delivery as failures, and 77/83, 92.8% (95% CI, 84.9%-97.3%) when considering them as successes since both had undetectable VL on darunavir/ritonavir throughout pregnancy. In ITT, the last available VL before delivery was <50 copies/mL in all of the patients. There was no case of perinatal HIV transmission.Conclusions: Darunavir/ritonavir maintenance monotherapy required intensification in nearly 10% of cases. This limits its widespread use, thus other regimens should be evaluated in order to limit exposure to antiretrovirals, particularly NRTIs, during pregnancy

    Prehospital Lyophilized Plasma Transfusion for Trauma-Induced Coagulopathy in Patients at Risk for Hemorrhagic Shock

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    International audienceIMPORTANCE Blood transfusion is a mainstay of therapy for trauma-induced coagulopathy, but the optimal modalities for plasma transfusion in the prehospital setting remain to be defined. OBJECTIVE To determine whether lyophilized plasma transfusion can reduce the incidence of trauma-induced coagulopathy compared with standard care consisting of normal saline infusion. DESIGN, SETTING, AND PARTICIPANTS This randomized clinical trial was performed at multiple centers in France involving prehospital medical teams. Participants included 150 adults with trauma who were at risk for hemorrhagic shock and associated coagulopathy between April 1, 2016, an

    A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

    No full text
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