67 research outputs found

    Wilms tumour

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    Wilms tumour (WT) is a childhood embryonal tumour that is paradigmatic of the intersection between disrupted organogenesis and tumorigenesis. Many WT genes play a critical (non-redundant) role in early nephrogenesis. Improving patient outcomes requires advances in understanding and targeting of the multiple genes and cellular control pathways now identified as active in WT development. Decades of clinical and basic research have helped to gradually optimize clinical care. Curative therapy is achievable in 90% of affected children, even those with disseminated disease, yet survival disparities within and between countries exist and deserve commitment to change. Updated epidemiological studies have also provided novel insights into global incidence variations. Introduction of biology-driven approaches to risk stratification and new drug development has been slower in WT than in other childhood tumours. Current prognostic classification for children with WT is grounded in clinical and pathological findings and in dedicated protocols on molecular alterations. Treatment includes conventional cytotoxic chemotherapy and surgery, and radiation therapy in some cases. Advanced imaging to capture tumour composition, optimizing irradiation techniques to reduce target volumes, and evaluation of newer surgical procedures are key areas for future research

    The French Didactic Tradition in Mathematics

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    This chapter presents the French didactic tradition. It first describes theemergence and development of this tradition according to four key features (role ofmathematics and mathematicians, role of theories, role of design of teaching andlearning environments, and role of empirical research), and illustrates it through two case studies respectively devoted to research carried out within this traditionon algebra and on line symmetry-reflection. It then questions the influence of thistradition through the contributions of four researchers from Germany, Italy, Mexicoand Tunisia, before ending with a short epilogue

    Co-expression network of neural-differentiation genes shows specific pattern in schizophrenia

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    Background: Schizophrenia is a neurodevelopmental disorder with genetic and environmental factors contributing to its pathogenesis, although the mechanism is unknown due to the difficulties in accessing diseased tissue during human neurodevelopment. The aim of this study was to find neuronal differentiation genes disrupted in schizophrenia and to evaluate those genes in post-mortem brain tissues from schizophrenia cases and controls. Methods: We analyzed differentially expressed genes (DEG), copy number variation (CNV) and differential methylation in human induced pluripotent stem cells (hiPSC) derived from fibroblasts from one control and one schizophrenia patient and further differentiated into neuron (NPC). Expression of the DEG were analyzed with microarrays of post-mortem brain tissue (frontal cortex) cohort of 29 schizophrenia cases and 30 controls. A Weighted Gene Co-expression Network Analysis (WGCNA) using the DEG was used to detect clusters of co-expressed genes that werenon-conserved between adult cases and controls brain samples. Results: We identified methylation alterations potentially involved with neuronal differentiation in schizophrenia, which displayed an over-representation of genes related to chromatin remodeling complex (adjP = 0.04). We found 228 DEG associated with neuronal differentiation. These genes were involved with metabolic processes, signal transduction, nervous system development, regulation of neurogenesis and neuronal differentiation. Between adult brain samples from cases and controls there were 233 DEG, with only four genes overlapping with the 228 DEG, probably because we compared single cell to tissue bulks and more importantly, the cells were at different stages of development. The comparison of the co-expressed network of the 228 genes in adult brain samples between cases and controls revealed a less conserved module enriched for genes associated with oxidative stress and negative regulation of cell differentiation. Conclusion: This study supports the relevance of using cellular approaches to dissect molecular aspects of neurogenesis with impact in the schizophrenic brain. We showed that, although generated by different approaches, both sets of DEG associated to schizophrenia were involved with neocortical development. The results add to the hypothesis that critical metabolic changes may be occurring during early neurodevelopment influencing faulty development of the brain and potentially contributing to further vulnerability to the illness.We thank the patients, doctors and nurses involved with sample collection and the Stanley Medical Research Institute. This research was supported by either Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq #17/2008) and Fundação Carlos Chagas Filho de Amparo a Pesquisa do Estado do Rio de Janeiro (FAPERJ). MM (CNPq 304429/2014-7), ACT (FAPESP 2014/00041-1), LL (CAPES 10682/13-9) HV (CAPES) and BP (PPSUS 137270) were supported by their fellowshipsinfo:eu-repo/semantics/publishedVersio

    Influence of the interaction between nodal fibroblast and breast cancer cells on gene expression

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    Our aim was to evaluate the interaction between breast cancer cells and nodal fibroblasts, by means of their gene expression profile. Fibroblast primary cultures were established from negative and positive lymph nodes from breast cancer patients and a similar gene expression pattern was identified, following cell culture. Fibroblasts and breast cancer cells (MDA-MB231, MDA-MB435, and MCF7) were cultured alone or co-cultured separated by a porous membrane (which allows passage of soluble factors) for comparison. Each breast cancer lineage exerted a particular effect on fibroblasts viability and transcriptional profile. However, fibroblasts from positive and negative nodes had a parallel transcriptional behavior when co-cultured with a specific breast cancer cell line. The effects of nodal fibroblasts on breast cancer cells were also investigated. MDA MB-231 cells viability and migration were enhanced by the presence of fibroblasts and accordingly, MDA-MB435 and MCF7 cells viability followed a similar pattern. MDA-MB231 gene expression profile, as evaluated by cDNA microarray, was influenced by the fibroblasts presence, and HNMT, COMT, FN3K, and SOD2 were confirmed downregulated in MDA-MB231 co-cultured cells with fibroblasts from both negative and positive nodes, in a new series of RT-PCR assays. In summary, transcriptional changes induced in breast cancer cells by fibroblasts from positive as well as negative nodes are very much alike in a specific lineage. However, fibroblasts effects are distinct in each one of the breast cancer lineages, suggesting that the inter-relationships between stromal and malignant cells are dependent on the intrinsic subtype of the tumor

    Transapical aortic balloon valvuloplasty in a 890-gram infant: hybrid is better!

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    Catheter Cardiovasc Interv. 2011 Jan 1;77(1):112-4. doi: 10.1002/ccd.22754. Transapical aortic balloon valvuloplasty in a 890-gram infant: hybrid is better! Maschietto N, Vida V, Milanesi O. Source Department of Pediatrics, Pediatric Cardiology Unit, [corrected] University of Padova, Padova, Italy. [email protected] Erratum in \u2022 Catheter Cardiovasc Interv. 2011 Sep 1;78(3):491. Abstract Balloon aortic valvuloplasty has become in many centers the treatment of choice for neonates with critical or severe aortic stenosis. Usual approaches both antegrade and retrograde can be problematic in preterms extremely low birth weight babies. We describe a novel approach for dilating the aortic valve in an 890 grams baby. Copyright \ua9 2010 Wiley-Liss, Inc. PMID: 20824755 [PubMed - indexed for MEDLINE

    Narratives from a violent-peaceful country: perceptions of violence, peace and power among the youth in Brazil

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    This paper is based on an ongoing research on perceptions of violence, peace and power among the youth in Brazil. The starting point is the current social and political context of Brazil, where the numbers of violence resemble those of countries at war and where there has been a significant shift to the far right over the last few years, culminating in the election of Jair Bolsonaro as president in 2018, who defends the wide liberalisation of guns, has openly defended torture during the military period, and presents a general discourse of governance based of strict order and traditional ‘family values’. Recent numbers of violence indicate that most of the victims of armed violence in Brazil are young, poor and black men. At the same time, there are increasingly young people adopting a more conservative posture. This research aims to assess the extent to which these political and social shifts are influencing the youth. The project contemplates a series of focus groups in high schools and universities in five different states. Nevertheless, because of the pandemic ad its effects in school closures the project has been paused, so the results here presented are partial and refer to the phase just before the pandemic in two states. The focus groups, a total of nine, were semi structured. Students were asked about their views and experiences regarding violence, peace and power/empowerment, including the extent to which they thought that violence was a functional/legitimate way to change power dynamics. While the results are partial, they add to current studies on violence in Brazil, particularly for providing space for a free discussion that allows a deeper exploration of why particular forms of thinking about peace, violence and power prevail among the youth
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