Activity

  • Santiago posted an update 9 months ago

    56g and negative serum and urinary immunofixation. Kidney biopsy established the diagnosis of CG. A treatment with prednisone was started without therapeutic response, progressing to end-stage kidney disease 19 months later. read more Molecular genetics investigation revealed an HRG.

    This is the first report of CG associated with SM in the setting of an HRG. This case highlights the two-hit model as a mechanism for CG pathogenesis, where the high-risk APOL1 genotype exerts a susceptibility role and SM infection serves as a trigger to CG.

    This is the first report of CG associated with SM in the setting of an HRG. This case highlights the two-hit model as a mechanism for CG pathogenesis, where the high-risk APOL1 genotype exerts a susceptibility role and SM infection serves as a trigger to CG.Medulloblastoma is a highly heterogeneous pediatric brain tumor with five molecular subtypes, Sonic Hedgehog TP53-mutant, Sonic Hedgehog TP53-wildtype, WNT, Group 3, and Group 4, defined by the World Health Organization. The current mechanism for classification into these molecular subtypes is through the use of immunostaining, methylation, and/or genetics. We surveyed the literature and identified a number of RNA-Seq and microarray datasets in order to develop, train, test, and validate a robust classifier to identify medulloblastoma molecular subtypes through the use of transcriptomic profiling data. We have developed a GPL-3 licensed R package and a Shiny Application to enable users to quickly and robustly classify medulloblastoma samples using transcriptomic data. The classifier utilizes a large composite microarray dataset (15 individual datasets), an individual microarray study, and an RNA-Seq dataset, using gene ratios instead of gene expression measures as features for the model. Discriminating features were identified using the limma R package and samples were classified using an unweighted mean of normalized scores. We utilized two training datasets and applied the classifier in 15 separate datasets. We observed a minimum accuracy of 85.71% in the smallest dataset and a maximum of 100% accuracy in four datasets with an overall median accuracy of 97.8% across the 15 datasets, with the majority of misclassification occurring between the heterogeneous Group 3 and Group 4 subtypes. We anticipate this medulloblastoma transcriptomic subtype classifier will be broadly applicable to the cancer research and clinical communities.Chromosomes are likely to have assembled from unlinked genes in early evolution. Genetic linkage reduces the assortment load and intragenomic conflict in reproducing protocell models to the extent that chromosomes can go to fixation even if chromosomes suffer from a replicative disadvantage, relative to unlinked genes, proportional to their length. Here we numerically show that chromosomes spread within protocells even if recurrent deleterious mutations affecting replicating genes (as ribozymes) are considered. Dosage effect selects for optimal genomic composition within protocells that carries over to the genic composition of emerging chromosomes. Lacking an accurate segregation mechanism, protocells continue to benefit from the stochastic corrector principle (group selection of early replicators), but now at the chromosome level. A remarkable feature of this process is the appearance of multigene families (in optimal genic proportions) on chromosomes. An added benefit of chromosome formation is an increase in the selectively maintainable genome size (number of different genes), primarily due to the marked reduction of the assortment load. The establishment of chromosomes is under strong positive selection in protocells harboring unlinked genes. The error threshold of replication is raised to higher genome size by linkage due to the fact that deleterious mutations affecting protocells metabolism (hence fitness) show antagonistic (diminishing return) epistasis. This result strengthens the established benefit conferred by chromosomes on protocells allowing for the fixation of highly specific and efficient enzymes.The ongoing digital revolution in the age of big data is opening new research opportunities. Culturomics and iEcology, two emerging research areas based on the analysis of online data resources, can provide novel scientific insights and inform conservation and management efforts. To date, culturomics and iEcology have been applied primarily in the terrestrial realm. Here, we advocate for expanding such applications to the aquatic realm by providing a brief overview of these new approaches and outlining key areas in which culturomics and iEcology are likely to have the highest impact, including the management of protected areas; fisheries; flagship species identification; detection and distribution of threatened, rare, and alien species; assessment of ecosystem status and anthropogenic impacts; and social impact assessment. When deployed in the right context with awareness of potential biases, culturomics and iEcology are ripe for rapid development as low-cost research approaches based on data available from digital sources, with increasingly diverse applications for aquatic ecosystems.Muin Khoury and co-authors discuss anticipated contributions of genomics and other forms of large-scale data in public health.This article discusses the three types of nurse prescriber currently registered in New Zealand (nurse practitioners, registered nurse prescribers (RNP) in primary health and specialty teams and registered nurse prescribers (RNPCH) in community health). It also provides an overview of the evolution of each group, as well as a summary of the current legislation, prescribing restrictions and models of supervision required for each type of prescriber.Prior to colonisation, Māori had a well-developed holistic health system based on maintaining balance between people, place and spirit. The colonial imposition of British economic, religious, educational, legal, health and governance, through warfare, immigration, legislation and social coercion had a devastating effect on Māori health outcomes. With the release of the WAI 2575 Waitangi Tribunal report exposing the failings of our health system in relation to Māori health, the need to decolonise our health system becomes more pressing. A key difficulty in this work is the poverty of transformative language, concepts and frameworks in our workforce. This paper is the product of an anti-racism think tank that occurred in April 2019. While working through a system change analysis on our colonial health system, Māori and Tauiwi activists and scholars created an allegory-from gorse to ngahere. The allegory depicts the ongoing impact of the colonial health system as represented by gorse, and the possibilities of a decolonised health system represented by ngahere-a self-sustaining and flourishing native forest.

Skip to toolbar