Researchers at Children’s Hospital Los Angeles report in The Journal of Molecular Diagnostics about a new tool that effectively integrates data from four fusion callers and identifies disease-related gene fusions Philadelphia, February 13, 2024 – Identification of specific gene fusions is critical for the successful targeted treatment of pediatric cancer patients. Researchers at Children’s Hospital Los Angeles have developed a novel assay that automatically integrates the data from multiple fusion identification tools (callers) and efficiently and accurately identifies clinically relevant gene fusions in pediatric tumors. Their results are reported in The Journal of Molecular Diagnostics, published by Elsevier. „An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors,” by Jonathan Buckley, Ryan J. Schmidt, Dejerianne Ostrow, Dennis Maglinte, Moiz Bootwalla, David Ruble, Ananthanarayanan Govindarajan, Jianling Ji, Alexandra E. Kovach, Etan Orgel, Gordana Raca, Fariba Navid, Leo Mascarenhas, Bruce Pawel,… 

Eine Gruppe von internationalen Mykologie-Experten um Univ.-Prof. Dr. Oliver A. Cornely von der Kölner Uniklinik hat zusammen eine Leitlinie zur Diagnose und Behandlung von Kryptokokkose entworfen, die zur Verbesserung des Infektionsmanagements und somit zur Überlebensrate von Patienten beitragen soll. Der Artikel „Global guideline for the diagnosis and management of cryptococcosis“ ist nun in der Zeitschrift The Lancet Infectious Diseases veröffentlicht worden.

Scientists at Oak Ridge National Laboratory used their expertise in quantum biology, artificial intelligence and bioengineering to improve how CRISPR Cas9 genome editing tools work on organisms like microbes that can be modified to produce renewable fuels and chemicals. CRISPR is a powerful tool for bioengineering, used to modify genetic code to improve an organism’s performance or to correct mutations. The CRISPR Cas9 tool relies on a single, unique guide RNA that directs the Cas9 enzyme to bind with and cleave the corresponding targeted site in the genome. Existing models to computationally predict effective guide RNAs for CRISPR tools were built on data from only a few model species, with weak, inconsistent efficiency when applied to microbes. For more information, please visit energy.gov/science. JOURNALNucleic Acids Research DOI10.1093/nar/gkad736

The study, published in the journal Environmental Health Perspectives, demonstrates a link between long-term exposure to DDT and changes in the sperm epigenome. These changes, particularly in genes vital for fertility, embryo development, neurodevelopment, and hormone regulation, correspond to increased rates of birth defects and diseases, including neurodevelopmental and metabolic disorders. Lismer, A., Shao, X., Dumargne, M. C., Lafleur, C., Lambrot, R., Chan, D., … & Kimmins, S. (2024). The association between long-term DDT or DDE exposures and an altered sperm epigenome—a cross-sectional study of Greenlandic Inuit and South African VhaVenda men. Environmental Health Perspectives, 132(1), 017008. https://doi.org/10.1289/EHP1201309.02.2024 McGill University

To help optimise clinical management, EULAR has drafted new recommendations for the use of imaging in diagnosis and management of CiA. A special taskforce – made up of rheumatologists, radiologists, methodologists, healthcare professionals, and patient research partners – collected evidence from four systematic literature reviews. The new work, published in the February issue of the Annals of the Rheumatic Diseases includes five overarching principles and 10 recommendations. The principles stress that CiA are can be characterised by intermittent, acute episodes of inflammation – but they can also follow a chronic disease course with or without flares. Imaging provides useful information on crystal deposition, inflammation, and structural damage. However, abnormalities on imaging may not be related to clinical symptoms, and patient information including medical history, laboratory results, and physical examination are always the most relevant to be taken into account. Finally,…