205 research outputs found

    The importance of circulating tumor products as „liquid biopsies” in colorectal cancer

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    Liquid biopsies represent an array of plasma analysis tests that are studied to evaluate and identify circulating tumor products, especially circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA). Examining such biomarkers in the plasma of colorectal cancer patients has attracted attention due to its clinical significance in the treatment of malignant diseases. Given that tissue samples are sometimes challenging to procure or unsatisfactory for genomic profiling from patients with colorectal cancer, trustworthy biomarkers are mandatory for guiding treatment, monitoring therapeutic response, and detecting recurrence. This review considers the relevance of flowing tumor products like circulating tumor cells (CTCs), circulating tumor DNA (ctDNA), circulating messenger RNA (mRNA), circulating micro RNA (miRNA), circulating exosomes, and tumor educated platelets (TEPs) for patients with colorectal cancer

    Fostering collaborative research for rare genetic disease: The example of Niemann-Pick type C disease

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    Rare disease represents one of the most significant issues facing the medical community and health care providers worldwide, yet the majority of these disorders never emerge from their obscurity, drawing little attention from the medical community or the pharmaceutical industry. The challenge therefore is how best to mobilize rare disease stakeholders to enhance basic, translational and clinical research to advance understanding of pathogenesis and accelerate therapy development. Here we describe a rare, fatal brain disorder known as Niemann-Pick type C (NPC) and an innovative research collaborative known as Support of Accelerated Research for NPC (SOAR-NPC) which illustrates one pathway through which knowledge of a rare disease and its possible treatments are being successfully advanced. Use of the “SOAR” mechanism, we believe, offers a blueprint for similar advancement for many other rare disorders

    Safety and acceptability of tubal ligation procedures performed by trained clinical officers in rural Uganda.

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    OBJECTIVE: To assess safety associated with tubal ligation performed by trained clinical officers (COs) in rural Uganda. METHODS: Between March and June 2012, 518 women in 4 regions of Uganda were recruited into a prospective cohort study and followed at days 3, 7, and 45 after undergoing tubal ligation performed by a trained CO. Intraoperative and postoperative adverse events (minor, moderate, or major), and acceptability were assessed. RESULTS: Mean age was 36 years (range, 20-49 years) and mean number of living children was 6.7 (range, 0-15). The overall rate of major adverse events was 1.5%: 0.4% intraoperatively; 1.9% at day 3; and 0.2% at day 7. The majority of women who underwent tubal ligation reported a good/very good experience at the facility (range, 94%-99%) and would recommend the health services to a friend (range, 93%-98%). CONCLUSION: In the present study, task sharing of tubal ligation to trained COs in private facilities was safe. Women reported high levels of satisfaction with the procedure. Training COs could be an effective strategy for expanding family-planning services to rural Uganda

    MMP1 bimodal expression and differential response to inflammatory mediators is linked to promoter polymorphisms.

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    BACKGROUND: Identifying the functional importance of the millions of single nucleotide polymorphisms (SNPs) in the human genome is a difficult challenge. Therefore, a reverse strategy, which identifies functionally important SNPs by virtue of the bimodal abundance across the human population of the SNP-related mRNAs will be useful. Those mRNA transcripts that are expressed at two distinct abundances in proportion to SNP allele frequency may warrant further study. Matrix metalloproteinase 1 (MMP1) is important in both normal development and in numerous pathologies. Although much research has been conducted to investigate the expression of MMP1 in many different cell types and conditions, the regulation of its expression is still not fully understood. RESULTS: In this study, we used a novel but straightforward method based on agglomerative hierarchical clustering to identify bimodally expressed transcripts in human umbilical vein endothelial cell (HUVEC) microarray data from 15 individuals. We found that MMP1 mRNA abundance was bimodally distributed in un-treated HUVECs and showed a bimodal response to inflammatory mediator treatment. RT-PCR and MMP1 activity assays confirmed the bimodal regulation and DNA sequencing of 69 individuals identified an MMP1 gene promoter polymorphism that segregated precisely with the MMP1 bimodal expression. Chromatin immunoprecipitation (ChIP) experiments indicated that the transcription factors (TFs) ETS1, ETS2 and GATA3, bind to the MMP1 promoter in the region of this polymorphism and may contribute to the bimodal expression. CONCLUSIONS: We describe a simple method to identify putative bimodally expressed RNAs from transcriptome data that is effective yet easy for non-statisticians to understand and use. This method identified bimodal endothelial cell expression of MMP1, which appears to be biologically significant with implications for inflammatory disease. (271 Words).RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'. In brief you may : copy, distribute, and display the work; make derivative works; or make commercial use of the work - under the following conditions: the original author must be given credit; for any reuse or distribution, it must be made clear to others what the license terms of this work are

    The importance of circulating tumor products as „liquid biopsies” in colorectal cancer

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    Liquid biopsies represent an array of plasma analysis tests that are studied to evaluate and identify circulating tumor products, especially circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA). Examining such biomarkers in the plasma of colorectal cancer patients has attracted attention due to its clinical significance in the treatment of malignant diseases. Given that tissue samples are sometimes challenging to procure or unsatisfactory for genomic profiling from patients with colorectal cancer, trustworthy biomarkers are mandatory for guiding treatment, monitoring therapeutic response, and detecting recurrence. This review considers the relevance of flowing tumor products like circulating tumor cells (CTCs), circulating tumor DNA (ctDNA), circulating messenger RNA (mRNA), circulating micro RNA (miRNA), circulating exosomes, and tumor educated platelets (TEPs) for patients with colorectal cancer

    Body image, aging, and identity in women over 50: The Gender and Body Image (GABI) study

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    We conducted a qualitative study of 1,849 women over age 50 to capture the thoughts, feelings, and attitudes that women at middle age have about their bodies and the experience of aging. Via an open-ended question online survey, four primary themes emerged: 1) the physical and psychological experience of aging; 2) the injustices, inequities, and challenges of aging; 3) the importance of self-care; and 4) a plea for recognition of the need to maintain a contributory role in society. Results highlight the complexities of women’s psychological and physical aspects of aging and point toward important topics worthy of further study in this growing population

    A decision support framework for the discrimination of children with controlled epilepsy based on EEG analysis

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    This work was supported in part by the EC-IST project Biopattern, contract no: 508803, by the EC ICT project TUMOR, contract no: 247754, by the University of Malta grant LBA-73-695, by an internal grant from the Technical University of Crete, ELKE# 80037 and by the Academy of Finland, project nos: 113572, 118355, 134767 and 213462.Background: In this work we consider hidden signs (biomarkers) in ongoing EEG activity expressing epileptic tendency, for otherwise normal brain operation. More specifically, this study considers children with controlled epilepsy where only a few seizures without complications were noted before starting medication and who showed no clinical or electrophysiological signs of brain dysfunction. We compare EEG recordings from controlled epileptic children with age-matched control children under two different operations, an eyes closed rest condition and a mathematical task. The aim of this study is to develop reliable techniques for the extraction of biomarkers from EEG that indicate the presence of minor neurophysiological signs in cases where no clinical or significant EEG abnormalities are observed. Methods: We compare two different approaches for localizing activity differences and retrieving relevant information for classifying the two groups. The first approach focuses on power spectrum analysis whereas the second approach analyzes the functional coupling of cortical assemblies using linear synchronization techniques. Results: Differences could be detected during the control (rest) task, but not on the more demanding mathematical task. The spectral markers provide better diagnostic ability than their synchronization counterparts, even though a combination (or fusion) of both is needed for efficient classification of subjects. Conclusions: Based on these differences, the study proposes concrete biomarkers that can be used in a decision support system for clinical validation. Fusion of selected biomarkers in the Theta and Alpha bands resulted in an increase of the classification score up to 80% during the rest condition. No significant discrimination was achieved during the performance of a mathematical subtraction task.peer-reviewe
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