Project description:The goal of this observational population-based cohort study is to investigate the clinical characteristics and outcomes of children and adolescents with primary gastrointestinal malignancies registered in the publicly available Surveillance, Epidemiology, and End Results (SEER) 17 database during 2000-2019.
Project description:It is well-known that between 40 and 50% of patients taking antidepressants do not respond to treatment or relapse. Genome wide gene expression studies can help us to understand better the response to antidepressants, revealing the effects of both genetic background and environmental/epigenetic factors. We used microarrays to detail the response to Fluoxetine in children and adolescents, analysing the expression just before intake of drug and 8 weeks after starting the treatment.
Project description:Fifty-six children and adolescents with type 1 diabetes at least one year after diagnosis, aged 6-17 years old and fifty-six healthy age- and sex-matched subjects were enrolled in this cross-sectional study. Tear samples were collected using Schirmer strips placed on the lower eyelid. The proteomic analysis was based on a detergent-assisted protein extraction and their digestion from the tears, analysis of the tryptic peptides with LC-MS/ enabling the identification, and quantification of the Shirmer strip protein content via DIA-NN, and subsequently the statistical and bioinformatic analysis using the R and Metascape enrichment analysis tool.
Project description:Dengue is the most important arboviral infection of humans. A host pro-inflammatory immune response is widely believed to contribute to the clinical complications that occur in some patients with dengue. Here, immune correlates of early prednisolone therapy were defined in Vietnamese dengue patients enrolled in a randomized controlled trial, comparing a three day regimen of high (2mg/kg) or low (0.5mg/kg) dose prednisolone with placebo. Prednisolone conferred a small change in the whole blood gene expression profile, with 81 transcripts from 64 genes differentially abundant between high-dose prednisolone and placebo treated patients. A prominent theme in the prednisolone gene expression signature was the under-abundance of transcripts from genes associated with T and NK cell cytolytic effector functions. Surprisingly, prednisolone therapy was not associated with attenuation of early-convalescent T cell responses or plasma cytokine levels. Collectively, these findings are consistent with a remarkably benign influence of prednisolone on immune response parameters in dengue patients, and are in line with the trial evidence showing lack of impact on clinical laboratory endpoints and clinical phenotype.
Project description:This study included whole-genome DNA methylation data from 64 whole-blood samples from patients recruited from the Hospital Psiquiatrico Infantil Juan N. Navarro in Mexico City. The project explored epigenetic changes associated with eating disorders in children and adolescents from a Mexican population.
Project description:Dengue is the most important arboviral infection of humans. A host pro-inflammatory immune response is widely believed to contribute to the clinical complications that occur in some patients with dengue. Here, immune correlates of early prednisolone therapy were defined in Vietnamese dengue patients enrolled in a randomized controlled trial, comparing a three day regimen of high (2mg/kg) or low (0.5mg/kg) dose prednisolone with placebo. Prednisolone conferred a small change in the whole blood gene expression profile, with 81 transcripts from 64 genes differentially abundant between high-dose prednisolone and placebo treated patients. A prominent theme in the prednisolone gene expression signature was the under-abundance of transcripts from genes associated with T and NK cell cytolytic effector functions. Surprisingly, prednisolone therapy was not associated with attenuation of early-convalescent T cell responses or plasma cytokine levels. Collectively, these findings are consistent with a remarkably benign influence of prednisolone on immune response parameters in dengue patients, and are in line with the trial evidence showing lack of impact on clinical laboratory endpoints and clinical phenotype. The gene expression microarray assay was conducted on samples from the first 123 consecutive patients (placebo, 40; 0.5mg/kg prednisolone, 42; 2.0mg/kg prednisolone, 41).
Project description:T-cell lymphoblastic lymphoma (T-LBL) is a heterogeneous malignancy of lymphoblasts committed to T-cell lineage. Dismal outcomes (15-30%) in case of T-LBL relapses warrants for risk-based treatment to be established in future. This is a first comprehensive, systematic, integrated genome-wide analysis including relapse cases aimed towards identifying molecular markers of prognostic relevance for T-LBL. Whole exome sequencing (WES) was performed on “limited cohort” of 16 T-LBL cases which included 6 relapse cases. Validation of WES data was performed on a large cohort (n=131) referred as \"extended cohort\". In order to identify copy number alterations and determine the epigenetic changes SNP arrays and methylation arrays were also performed respectively on the \"limited cohort\". Activated NOTCH/PI3K-AKT signaling axis and alterations in cell cycle regulators constitutes the core oncogenic program for T-LBL. KMT2D was identified as a prognostic molecular marker, KMT2Dmut and/or PTENmut associated with poor prognosis.
Project description:T-cell lymphoblastic lymphoma (T-LBL) is a heterogeneous malignancy of lymphoblasts committed to T-cell lineage. Dismal outcomes (15-30%) in case of T-LBL relapses warrants for risk-based treatment to be established in future. This is a first comprehensive, systematic, integrated genome-wide analysis including relapse cases aimed towards identifying molecular markers of prognostic relevance for T-LBL. Whole exome sequencing (WES) was performed on “limited cohort” of 16 T-LBL cases which included 6 relapse cases. Validation of WES data was performed on a large cohort (n=131) referred as \\"extended cohort\\". In order to identify copy number alterations and determine the epigenetic changes SNP arrays and methylation arrays were also performed respectively on the \\"limited cohort\\". Activated NOTCH/PI3K-AKT signaling axis and alterations in cell cycle regulators constitutes the core oncogenic program for T-LBL. KMT2D was identified as a prognostic molecular marker, KMT2Dmut and/or PTENmut associated with poor prognosis.
Project description:T-cell lymphoblastic lymphoma (T-LBL) is a heterogeneous malignancy of lymphoblasts committed to T-cell lineage. Dismal outcomes (15-30%) in case of T-LBL relapses warrants for risk-based treatment to be established in future. This is a first comprehensive, systematic, integrated genome-wide analysis including relapse cases aimed towards identifying molecular markers of prognostic relevance for T-LBL. Whole exome sequencing (WES) was performed on “limited cohort” of 16 T-LBL cases which included 6 relapse cases. Validation of WES data was performed on a large cohort (n=131) referred as \\"extended cohort\\". In order to identify copy number alterations and determine the epigenetic changes SNP arrays and methylation arrays were also performed respectively on the \\"limited cohort\\". Activated NOTCH/PI3K-AKT signaling axis and alterations in cell cycle regulators constitutes the core oncogenic program for T-LBL. KMT2D was identified as a prognostic molecular marker, KMT2Dmut and/or PTENmut associated with poor prognosis.
Project description:Outcome of paediatric B-cell Non-Hodgkin Lymphoma (B-NHL) has significantly improved in the last decades due to risk adapted strategies and the addition of immunotherapy, (survival >90%). However, limited progress has been achieved in relapsed patients, mostly Burkitt lymphoma (<30%). Validation of prognostic biomarkers to identify candidates to novel therapies is imperative. This retrospective study reports on clinical and therapeutic data of 46 children and adolescents with relapsed B-NHL, including integrative molecular data of 16 (35%) cases. TP53 alterations were identified in 10 (60%) patients which were associated with worse outcome. Our data support the focus on TP53 as a potential biomarker.