48 research outputs found
Geriatric in Patient Profile at the Department of Internal Medicine at Niamey National Hospital, Niger
Background: The ageing population in developing countries has brought a demographic and an epidemiological transition, with the impact of chronic diseases resulting from life style changes on the health status of the population. Objective: To describ a profile geriatrics patient, specifically to identify epidemiologic, clinical, etiologic and outcome of this group at the department of internal medicine to NNH Patients and method: Medical records of all geriatric patients aged ≥65 years admitted at the department of NNH Between January 2012 and December 2015 were retrieved and reviewed retrospectively. Results: A total of 6074 admissions at the internal medicine department of NNH over three years were reported and 1130 (18, 6%) were geriatrics patients, the average age was 75, 95 years and more than half were men (50,7%). 80 % of patients were in the young old group (65-74 years), 13% in the old group (75-84 years) and 7% in the oldest old group (≥85 years). High blood pressure was the frequent comorbidity (12, 3%) and the most symptoms caused hospitalization were stroke (17, 6%), fevers (16, 5%) and worst health (13, 1%). Frequent illnesses were cardiovascular diseases (38.4%), infections, (19.2%) and endocrine diseases (11%). The average length of hospital stays was 8, 7 days. The mortality rate was 18, 2% and the worst outcomes factors were female sex, frail elderly group in 75 to 84 years and high blood pressure. Conclusion: Chronic diseases were responsible of morbidity and mortality for the majority elderly’s patient
Author Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers
Correction to: Nature Genetics, published online 05 February 2020. In the published version of this paper, the members of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium were listed in the Supplementary Information; however, these members should have been included in the main paper. The original Article has been corrected to include the members and affiliations of the PCAWG Consortium in the main paper; the corrections have been made to the HTML version of the Article but not the PDF version. Additional corrections to affiliations have been made to the PDF and HTML versions of the original Article for consistency of information between the PCAWG list and the main paper
Author Correction: The landscape of viral associations in human cancers
Correction to: Nature Genetics https://doi.org/10.1038/s41588-019-0558-9, published online 05 February 2020
Sex differences in oncogenic mutational processes
Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research
Pan-cancer analysis of whole genomes
Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale(1-3). Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4-5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter(4); identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation(5,6); analyses timings and patterns of tumour evolution(7); describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity(8,9); and evaluates a range of more-specialized features of cancer genomes(8,10-18).Peer reviewe
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Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing
Chromothripsis is a mutational phenomenon characterized by massive, clustered genomic rearrangements that occurs in cancer and other diseases. Recent studies in selected cancer types have suggested that chromothripsis may be more common than initially inferred from low-resolution copy-number data. Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), we analyze patterns of chromothripsis across 2,658 tumors from 38 cancer types using whole-genome sequencing data. We find that chromothripsis events are pervasive across cancers, with a frequency of more than 50% in several cancer types. Whereas canonical chromothripsis profiles display oscillations between two copy-number states, a considerable fraction of events involve multiple chromosomes and additional structural alterations. In addition to non-homologous end joining, we detect signatures of replication-associated processes and templated insertions. Chromothripsis contributes to oncogene amplification and to inactivation of genes such as mismatch-repair-related genes. These findings show that chromothripsis is a major process that drives genome evolution in human cancer
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts
A natural coagulant protein from copra (Cocos nucifera): Isolation, characterization, and potential for water purification
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Tackling Key Issues for Smallholder Farmers: The Farmer Research Network (FRN) Approach
The Collaborative Crop Research Program (CCRP) of the McKnight Foundation supports collaborative agroecological systems research and knowledge sharing that strengthen the capacities of smallholder farmers, research institutions, and development organizations. The program is experimenting with a Farmer Research Network (FRN) approach, which aims to transform the agriculture and food systems by fostering context-specific agroecological intensification (AEI); care for culture, production ecology, and equity; and improve yields, nutrition, and sustainability. In addition, the FRN approach aims to transform the way that much of agricultural research and development is done: It promotes research as part of development, farmer influence on what is being worked on, more equitable relations, and a move from blanket recommendations to support farmers’ understanding of agroecological principles and better decision-making. The approach is based on three main FRN principles: Farmers who represent the social and biophysical diversity of their communities participate in the whole research process. Research is rigorous, democratized, and useful, providing practical benefits to farmers as well as scientific evidence and insights on biophysical and social variation. Networks foster collaboration and opportunities for learning and knowledge sharing.In our general FRN model, there is an entity that facilitates the collaborative network of farmer organization(s), NGOs and development projects, researchers/research institutions, and the private sector whenever possible. In this network, local knowledge, infrastructure, and social capital are combined with global scientific knowledge and innovations, and both enrich each other.This chapter gives concrete examples for FRNs from CCRP’s West Africa community of practice. In these FRNs, high levels of farmer participation and relatively large scales of operations are being combined, which makes the approach distinct from conventional agricultural research and from classical participatory research approaches. With the FRN approach, CCRP is trying to foster a paradigm change: Research should consider smallholder farmers as valuable research partners and no longer as “beneficiaries” or “passive adopters” of so-called “best-bet” technologies developed by researchers. The FRN approach encourages researchers to stop thinking about making recommendations and rather start thinking about supporting farmers in making choices to tackle the key issues they face