54 research outputs found

    P53 germline mutations in childhood cancers and cancer risk for carrier individuals

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    The family history of cancer in children treated for a solid malignant tumour in the Paediatric Oncology Department at Institute Gustave-Roussy, has been investigated. In order to determine the role of germline p53 mutations in genetic predisposition to childhood cancer, germline p53 mutations were sought in individuals with at least one relative (first- or second-degree relative or first cousin) affected by any cancer before 46 years of age, or affected by multiple cancers. Screening for germline p53 mutation was possible in 268 index cases among individuals fulfilling selection criteria. Seventeen (6.3%) mutations were identified, of which 13 were inherited and four were de novo. Using maximum likelihood methods that incorporate retrospective family data and correct for ascertainment bias, the lifetime risk of cancer for mutation carriers was estimated to be 73% for males and nearly 100% for females with a high risk of breast cancer accounting for the difference. The risk of cancer associated with such mutations is very high and no evidence of low penetrance mutation was found. These mutations are frequently inherited but de novo mutations are not rare. © 2000 Cancer Research Campaig

    NOMAD spectrometer on the ExoMars trace gas orbiter mission: part 2—design, manufacturing, and testing of the ultraviolet and visible channel

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    NOMAD is a spectrometer suite on board the ESA/Roscosmos ExoMars Trace Gas Orbiter, which launched in March 2016. NOMAD consists of two infrared channels and one ultraviolet and visible channel, allowing the instrument to perform observations quasi-constantly, by taking nadir measurements at the day- and night-side, and during solar occultations. Here, in part 2 of a linked study, we describe the design, manufacturing, and testing of the ultraviolet and visible spectrometer channel called UVIS. We focus upon the optical design and working principle where two telescopes are coupled to a single grating spectrometer using a selector mechanism

    Global Impact of the COVID-19 Pandemic on Cerebral Venous Thrombosis and Mortality

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    Background and purpose: Recent studies suggested an increased incidence of cerebral venous thrombosis (CVT) during the coronavirus disease 2019 (COVID-19) pandemic. We evaluated the volume of CVT hospitalization and in-hospital mortality during the 1st year of the COVID-19 pandemic compared to the preceding year. Methods: We conducted a cross-sectional retrospective study of 171 stroke centers from 49 countries. We recorded COVID-19 admission volumes, CVT hospitalization, and CVT in-hospital mortality from January 1, 2019, to May 31, 2021. CVT diagnoses were identified by International Classification of Disease-10 (ICD-10) codes or stroke databases. We additionally sought to compare the same metrics in the first 5 months of 2021 compared to the corresponding months in 2019 and 2020 (ClinicalTrials.gov Identifier: NCT04934020). Results: There were 2,313 CVT admissions across the 1-year pre-pandemic (2019) and pandemic year (2020); no differences in CVT volume or CVT mortality were observed. During the first 5 months of 2021, there was an increase in CVT volumes compared to 2019 (27.5%; 95% confidence interval [CI], 24.2 to 32.0; P<0.0001) and 2020 (41.4%; 95% CI, 37.0 to 46.0; P<0.0001). A COVID-19 diagnosis was present in 7.6% (132/1,738) of CVT hospitalizations. CVT was present in 0.04% (103/292,080) of COVID-19 hospitalizations. During the first pandemic year, CVT mortality was higher in patients who were COVID positive compared to COVID negative patients (8/53 [15.0%] vs. 41/910 [4.5%], P=0.004). There was an increase in CVT mortality during the first 5 months of pandemic years 2020 and 2021 compared to the first 5 months of the pre-pandemic year 2019 (2019 vs. 2020: 2.26% vs. 4.74%, P=0.05; 2019 vs. 2021: 2.26% vs. 4.99%, P=0.03). In the first 5 months of 2021, there were 26 cases of vaccine-induced immune thrombotic thrombocytopenia (VITT), resulting in six deaths. Conclusions: During the 1st year of the COVID-19 pandemic, CVT hospitalization volume and CVT in-hospital mortality did not change compared to the prior year. COVID-19 diagnosis was associated with higher CVT in-hospital mortality. During the first 5 months of 2021, there was an increase in CVT hospitalization volume and increase in CVT-related mortality, partially attributable to VITT

    Global Impact of the COVID-19 Pandemic on Cerebral Venous Thrombosis and Mortality.

    Get PDF
    BACKGROUND AND PURPOSE: Recent studies suggested an increased incidence of cerebral venous thrombosis (CVT) during the coronavirus disease 2019 (COVID-19) pandemic. We evaluated the volume of CVT hospitalization and in-hospital mortality during the 1st year of the COVID-19 pandemic compared to the preceding year. METHODS: We conducted a cross-sectional retrospective study of 171 stroke centers from 49 countries. We recorded COVID-19 admission volumes, CVT hospitalization, and CVT in-hospital mortality from January 1, 2019, to May 31, 2021. CVT diagnoses were identified by International Classification of Disease-10 (ICD-10) codes or stroke databases. We additionally sought to compare the same metrics in the first 5 months of 2021 compared to the corresponding months in 2019 and 2020 (ClinicalTrials.gov Identifier: NCT04934020). RESULTS: There were 2,313 CVT admissions across the 1-year pre-pandemic (2019) and pandemic year (2020); no differences in CVT volume or CVT mortality were observed. During the first 5 months of 2021, there was an increase in CVT volumes compared to 2019 (27.5%; 95% confidence interval [CI], 24.2 to 32.0; P<0.0001) and 2020 (41.4%; 95% CI, 37.0 to 46.0; P<0.0001). A COVID-19 diagnosis was present in 7.6% (132/1,738) of CVT hospitalizations. CVT was present in 0.04% (103/292,080) of COVID-19 hospitalizations. During the first pandemic year, CVT mortality was higher in patients who were COVID positive compared to COVID negative patients (8/53 [15.0%] vs. 41/910 [4.5%], P=0.004). There was an increase in CVT mortality during the first 5 months of pandemic years 2020 and 2021 compared to the first 5 months of the pre-pandemic year 2019 (2019 vs. 2020: 2.26% vs. 4.74%, P=0.05; 2019 vs. 2021: 2.26% vs. 4.99%, P=0.03). In the first 5 months of 2021, there were 26 cases of vaccine-induced immune thrombotic thrombocytopenia (VITT), resulting in six deaths. CONCLUSIONS: During the 1st year of the COVID-19 pandemic, CVT hospitalization volume and CVT in-hospital mortality did not change compared to the prior year. COVID-19 diagnosis was associated with higher CVT in-hospital mortality. During the first 5 months of 2021, there was an increase in CVT hospitalization volume and increase in CVT-related mortality, partially attributable to VITT

    Maintenir la coexistence d'espèces d'arbre ayant des tolérances à l'ombre différentes par la sylviculture irrégulière

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    International audienceMaintaining the coexistence of multiple tree species is one of the greatest issues of uneven-aged silviculture. In many places, while forest managers have successfully maintained complex stand structure with continuous cover silviculture, they have often faced difficulties to maintain some desired species mixtures. The composition of uneven-aged forests naturally evolves as few species successfully regenerate and suppress the others. Maintaining the coexistence of various tree species is however of great interests, for example, regarding biodiversity issues or resilience to global changes. Since uneven-aged silviculture usually maintains a continuous canopy cover, wherever nutrient and water availability satisfies regeneration requirements, the availability of light in the understory is the driving factor of natural regeneration dynamics. The amount of transmitted radiation determines, at least partly, regeneration composition because of interspecific differences in growth and survival under shade. In theory, shade-tolerant species generally dominate the regeneration under closed canopies whereas less shade-tolerant species dominate the regeneration under partially open canopies. We hypothesized that, along a gradient of light availability, there is a rank reversal of sapling growth of species with contrasting shade-tolerance. In addition, we expected that forest managers can effectively control understory light with appropriate modifications of forest structure and density. We examined mixtures of sessile oak (Quercus petraea (Matt.) Liebl.) and European beech (Fagus sylvatica L.) in the Belgian Ardennes. We selected 23 sites with favorable water and nutrient supply. Regeneration areas (100-6500m²) were fenced off to protect them from browsing by deer. Saplings were sampled in 241 subplots and their height growth was annually monitored during two years. Understory light transmittance was measured in each subplot using hemispherical photography. The height growth of beech and oak saplings was modeled with mixed non-linear models. In order to simulate various silvicultural treatments, we used a model of light interception by heterogeneous canopies (SAMSARALIGHT). We simulated selective thinnings of 5 different types: harvesting preferentially small trees, large trees, or trees of shade-tolerant species or creating circular gaps. Understory light was found to be a key parameter in the dynamics of heterogeneous stands, as it affects regeneration growth and composition. There were interspecific differences in growth response to light availability. The optimum height growth of beech and oak regenerations were reached at 10% and 20% of transmittance, respectively. Our simulations highlighted that various silvicultural treatments can effectively be used to control understory light as long as harvest intensity is adapted to the chosen strategy. The results of this study also underscore the problem that even under good light conditions (transmittance > 20 %), regeneration of less shade-tolerant species might not overcome the regeneration of shade-tolerant species. Contrary to our hypothesis, we found no rank reversal of the height growth of the two study species along a wide light gradient. Consequently, maintaining less shade-tolerant species in stands with shade-tolerant species might require silvicultural interventions jointly in the overstory and regeneration layers

    Automatic modular design of robot swarms using behavior trees as a control architecture

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    We investigate the possibilities, challenges, and limitations that arise from the use of behavior trees in the context of the automatic modular design of collective behaviors in swarm robotics. To do so, we introduce Maple, an automatic design method that combines predefined modules—low-level behaviors and conditions— into a behavior tree that encodes the individual behavior of each robot of the swarm. We present three empirical studies based on two missions: AGGREGATION and FORAGING. To explore the strengths and weaknesses of adopting behavior trees as a control architecture, we compare Maple with Chocolate, a previously proposed automatic design method that uses probabilistic finite state machines instead. In the first study, we assess Maple's ability to produce control software that crosses the reality gap satisfactorily. In the second study, we investigate Maple's performance as a function of the design budget, that is, the maximum number of simulation runs that the design process is allowed to perform. In the third study, we explore a number of possible variants of Maple that differ in the constraints imposed on the structure of the behavior trees generated. The results of the three studies indicate that, in the context of swarm robotics, behavior trees might be appealing but in many settings do not produce better solutions than finite state machines.Robot Dynamic
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