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

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

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

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.

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

Forest radiative transfer models: which approach for which application?

International audienceRadiation is fundamental in forest ecosystem ecology as it drives plant photosynthesis, morphogenesis, and fluxes of carbon, water, and energy between soil, vegetation, and the atmosphere. Though all approaches of forest radiative transfer models (FRTM) share general properties, they differ greatly in terms of calibration parameters, required assumptions, and model objectives. They use different precision levels of canopy description (from one to three dimensions) and different mathematical relationships to model the attenuation of radiation through the canopy. To date, no general guideline has been given to help the modeler choose the approach that best suits his needs. We therefore reviewed evaluation, sensitivity, and performance of FRTMs recently reported in the literature. We quantified FRTM uncertainty and identified the most sensitive parameters relative to the modeling choices. Their advantages and drawbacks are discussed, and recommendations are made relative to application potential.Le rayonnement solaire occupe une place fondamentale dans l'écologie des écosystèmes forestiers parce qu'il est responsable de la photosynthèse des plantes, de leur morphogénèse et des flux de carbone, d'eau et d'énergie entre le sol, la végétation et l'atmosphère. Bien que toutes les approches de modélisation du transfert du rayonnement en forêt (MTRF) partagent des propriétés générales, les paramètres d'étalonnage, les hypothèses requises et les objectifs de modélisation diffèrent considérablement. Ces approches utilisent différents niveaux de précision de la description du couvert forestier (de une à trois dimensions) et différentes relations mathématiques pour modéliser l'atténuation du rayonnement par le couvert forestier. Jusqu'à maintenant, aucune ligne directrice n'a été émise pour aider le modélisateur a` choisir l'approche correspondant le mieux à ses besoins. Nous avons donc passé en revue l'évaluation, la sensibilité et la performance des MTRF récemment publiés. Nous avons quantifié l'incertitude des MTRF et nous avons identifié les paramètres les plus sensibles pour sélectionner les modèles. Leurs avantages et inconvénients sont discutés et des recommandations sont faites quant à leur potentiel d'application

EmbrASD: Android Mobile Application for Children with Autism as a Supplemental Tool for Therapy

Autism has a very wide range that influences people, specifically children in general. Usually, it affects a child’s social interaction, communication, behaviors, and interests. Providing a complete device for treatment which is planned to be used by kids with autism needs to be taken into consideration. There is no software available that will adhere to the main areas of autism. The development a multidimensional software that focuses the main areas of kids with autism was a specific goal that the paper is being addressed. It is planned from the viewpoint of several specialists: more particularly speech therapist, occupational therapist, Special Education (SPED) educator and an Applied Behavior Analysis (ABA) specialist. The specialists’ focused objectives were lengthily included into the planning of the software. The development of an application for the young with autism that would completely attend to all the main areas that are initiated by autism and serves as an addendum to treatment is the primary goal of the study. Interviews from, speech therapist, occupational therapist, SPED teacher, ABA therapist and a SPED therapist will serve as a basis and the prototyping methodology for system development. With the implemented system, the intended users gave an approval on the application to be integrated in the teaching of children with autism. Suggestions on the improvement of the application comprises of including video recording for API 22, implementing the system in the iOS environment, and concentration on older autism cases were recommended