90 research outputs found

    How do public health nurses in Norwegian school health services support siblings of children with complex care needs?

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    Aims: There is a paucity of data regarding the care and support provided by Norwegian school health services to siblings of children with complex care needs. Public health nurses are an integral part of these universal services, which focus on health promotion and disease prevention in primary and secondary schools. This study aimed to explore health promotion interventions by public health nurses for siblings in Norwegian schools and to identify regional differences. Methods: An online national questionnaire was distributed to Norwegian public health nurses and leaders of public health nursing services (N=487). The questions were related to how the nurses support siblings of children with complex care needs. The quantitative data were analysed using descriptive statistics. An inductive thematic analysis of free-text comments was conducted. Ethical Approval: The study was approved by the Norwegian Centre for Research Data. Results: The majority of public health nursing leaders (67%) reported that the services in their municipality had no system to identify siblings or to provide them with routine care. However, 26% of public health nursesreported thatroutine support was provided to siblings. Regional differences were identified. Study Limitations: This study included responses from 487 PHNs from all four health regions in Norway. The study design is limited and gives a brief outline of the current situation. Further data are needed to provide in-depth knowledge. Conclusions: This survey provides important knowledge for health authorities and professionals working with siblings, about inadequate support and regional differences in care provided to siblings by school health services

    SPHERE IRDIS and IFS astrometric strategy and calibration

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    We present the current results of the astrometric characterization of the VLT planet finder SPHERE over 2 years of on-sky operations. We first describe the criteria for the selection of the astrometric fields used for calibrating the science data: binaries, multiple systems, and stellar clusters. The analysis includes measurements of the pixel scale and the position angle with respect to the North for both near-infrared subsystems, the camera IRDIS and the integral field spectrometer IFS, as well as the distortion for the IRDIS camera. The IRDIS distortion is shown to be dominated by an anamorphism of 0.60+/-0.02% between the horizontal and vertical directions of the detector, i.e. 6 mas at 1". The anamorphism is produced by the cylindrical mirrors in the common path structure hence common to all three SPHERE science subsystems (IRDIS, IFS, and ZIMPOL), except for the relative orientation of their field of view. The current estimates of the pixel scale and North angle for IRDIS are 12.255+/-0.009 milliarcseconds/pixel for H2 coronagraphic images and -1.75+/-0.08 deg. Analyses of the IFS data indicate a pixel scale of 7.46+/-0.02 milliarcseconds/pixel and a North angle of -102.18+/-0.13 deg. We finally discuss plans for providing astrometric calibration to the SPHERE users outside the instrument consortium.Comment: 12 pages, 6 figures, 3 table

    Ecological and evolutionary consequences of anticancer adaptations

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    Cellular cheating leading to cancers exists in all branches of multicellular life, favoring the evolution of adaptations to avoid or suppress malignant progression, and/or to alleviate its fitness consequences. Ecologists have until recently largely neglected the importance of cancer cells for animal ecology, presumably because they did not consider either the potential ecological or evolutionary consequences of anticancer adaptations. Here, we review the diverse ways in which the evolution of anticancer adaptations has significantly constrained several aspects of the evolutionary ecology of multicellular organisms at the cell, individual, population, species, and ecosystem levels and suggest some avenues for future research

    CNS Involvement at Initial Diagnosis and Risk of Relapse After Allogeneic HCT for Acute Lymphoblastic Leukemia in First Complete Remission

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    Outcomes of allogeneic hematopoietic cell transplantation (allo-HCT) for adult acute lymphoblastic leukemia (ALL) have improved over time. Studies have shown that total body irradiation (TBI) is the preferable type of myeloablative conditioning (MAC). However, outcomes based on central nervous system (CNS) involvement, namely CNS-positive versus CNS-negative, have not been compared. Here, we evaluated outcomes of 547 patients (CNS-positive = 96, CNS-negative = 451) who were allografted in the first complete remission (CR1) between 2009 and 2019. Primary endpoint was leukemia-free survival (LFS). Median follow-up was not different between the CNS-positive and CNS-negative groups (79 versus 67.2 months, P = 0.58). The CNS-positive group were younger (median age 31.3 versus 39.7 years, P = 0.004) and were allografted more recently (median year 2012 versus 2010, P = 0.003). In both groups, MAC was the preferred approach (82.3% versus 85.6%, P = 0.41). On multivariate analysis, the CNS-positive group had higher incidence of relapse (RI) (hazard ratio [HR] = 1.58 [95% confidence interval (CI) = 1.06-2.35], P = 0.025), but no adverse effect on LFS (HR = 1.38 [95% CI = 0.99-1.92], P = 0.057) or overall survival (OS) (HR = 1.28 [95% CI = 0.89-1.85], P = 0.18). A subgroup multivariate analysis limited to CNS-positive patients showed that a TBI-based MAC regimen resulted in better LFS (HR = 0.43 [95% CI = 0.22-0.83], P = 0.01) and OS (HR = 0.44 [95% CI = 0.21-0.92], P = 0.03) and lower RI (HR = 0.35 [95% CI = 0.15-0.79], P = 0.01). Another subgroup analysis in CNS-negative patients showed that MAC-TBI preparative regimens also showed a lower RI without a benefit in LFS or OS. While a MAC-TBI allo-HCT regimen may not be suitable to all, particularly for older patients with comorbidities, this approach should be considered for patients who are deemed fit and able to tolerate.Peer reviewe

    The beta Pictoris system: Setting constraints on the planet and the disk structures at mid-IR wavelengths with NEAR

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    [abridged] We analyzed mid-infrared high-contrast coronagraphic images of the beta Pictoris system, taking advantage of the NEAR experiment using the VLT/VISIR instrument. The goal of our analysis is to investigate both the detection of the planet beta Pictoris b and of the disk features at mid-IR wavelengths. In addition, by combining several epochs of observation, we expect to constrain the position of the known clumps and improve our knowledge on the dynamics of the disk. To evaluate the planet b flux contribution, we extracted the photometry and compared it to the flux published in the literature. In addition, we used previous data from T-ReCS and VISIR, to study the evolution of the position of the southwest clump that was initially observed in the planetary disk back in 2003. While we did not detect the planet b, we were able to put constraints on the presence of circumplanetary material, ruling out the equivalent of a Saturn-like planetary ring around the planet. The disk presents several noticeable structures, including the known southwest clump. Using a 16-year baseline, sampled with five epochs of observations, we were able to examine the evolution of the clump: the clump orbits in a Keplerian motion with an sma of 56.1+-0.4 au. In addition to the known clump, the images clearly show the presence of a second clump on the northeast side of the disk and fainter and closer structures that are yet to be confirmed. We found correlations between the CO clumps detected with ALMA and the mid-IR images. If the circumplanetary material were located at the Roche radius, the maximum amount of dust determined from the flux upper limit around beta Pictoris b would correspond to the mass of an asteroid of 5 km in diameter. Finally, the Keplerian motion of the southwestern clump is possibly indicative of a yet-to-be-detected planet or signals the presence of a vortex.Comment: Accepted in Astronomy and Astrophysic

    A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers

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    Somatic rearrangements contribute to the mutagenized landscape of cancer genomes. Here, we systematically interrogated rearrangements in 560 breast cancers by using a piecewise constant fitting approach. We identified 33 hotspots of large (>100 kb) tandem duplications, a mutational signature associated with homologous-recombination-repair deficiency. Notably, these tandem-duplication hotspots were enriched in breast cancer germline susceptibility loci (odds ratio (OR) = 4.28) and breast-specific 'super-enhancer' regulatory elements (OR = 3.54). These hotspots may b

    A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers

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    Somatic rearrangements contribute to the mutagenized landscape of cancer genomes. Here, we systematically interrogated rearrangements in 560 breast cancers by using a piecewise constant fitting approach. We identified 33 hotspots of large (>100 kb) tandem duplications, a mutational signature associated with homologous-recombination-repair deficiency. Notably, these tandem-duplication hotspots were enriched in breast cancer germline susceptibility loci (odds ratio (OR) = 4.28) and breast-specific 'super-enhancer' regulatory elements (OR = 3.54). These hotspots may be sites of selective susceptibility to double-strand-break damage due to high transcriptional activity or, through incrementally increasing copy number, may be sites of secondary selective pressure. The transcriptomic consequences ranged from strong individual oncogene effects to weak but quantifiable multigene expression effects. We thus present a somatic-rearrangement mutational process affecting coding sequences and noncoding regulatory elements and contributing a continuum of driver consequences, from modest to strong effects, thereby supporting a polygenic model of cancer development.DG is supported by the EU-FP7-SUPPRESSTEM project. SN-Z is funded by a Wellcome Trust Intermediate Fellowship (WT100183MA) and is a Wellcome Beit Fellow. For more information, please visit the publisher's website

    Integrative epigenomics in Sjögren´s syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature

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    Primary Sjögren's syndrome (SS) is a systemic autoimmune disease characterized by lymphocytic infiltration and damage of exocrine salivary and lacrimal glands. The etiology of SS is complex with environmental triggers and genetic factors involved. By conducting an integrated multi-omics study, we confirmed a vast coordinated hypomethylation and overexpression effects in IFN-related genes, what is known as the IFN signature. Stratified and conditional analyses suggest a strong interaction between SS-associated HLA genetic variation and the presence of Anti-Ro/SSA autoantibodies in driving the IFN epigenetic signature and determining SS. We report a novel epigenetic signature characterized by increased DNA methylation levels in a large number of genes enriched in pathways such as collagen metabolism and extracellular matrix organization. We identified potential new genetic variants associated with SS that might mediate their risk by altering DNA methylation or gene expression patterns, as well as disease-interacting genetic variants that exhibit regulatory function only in the SS population. Our study sheds new light on the interaction between genetics, autoantibody profiles, DNA methylation and gene expression in SS, and contributes to elucidate the genetic architecture of gene regulation in an autoimmune population

    Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis

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    Altres ajuts: Fondo Europeo de Desarrollo Regional (FEDER), "A way of making Europe".Copy number (CN) polymorphisms of complement C4 play distinct roles in many conditions, including immune-mediated diseases. We investigated the association of C4 CN with systemic sclerosis (SSc) risk. Imputed total C4, C4A, C4B, and HERV-K CN were analyzed in 26,633 individuals and validated in an independent cohort. Our results showed that higher C4 CN confers protection to SSc, and deviations from CN parity of C4A and C4B augmented risk. The protection contributed per copy of C4A and C4B differed by sex. Stronger protection was afforded by C4A in men and by C4B in women. C4 CN correlated well with its gene expression and serum protein levels, and less C4 was detected for both in SSc patients. Conditioned analysis suggests that C4 genetics strongly contributes to the SSc association within the major histocompatibility complex locus and highlights classical alleles and amino acid variants of HLA-DRB1 and HLA-DPB1 as C4-independent signals
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