The use of a liquid biopsy to assess molecular residual disease (MRD) of solid tumors holds significant promise for improving outcomes for patients with cancer. Liquid biopsies are a minimally invasive approach for the identification of circulating tumor biomarkers through a simple blood sample. Assays capable of detecting MRD through analysis of circulating tumor DNA (ctDNA) are rapidly evolving for clinical study applications and therapeutic interventions.
View Article and Find Full Text PDFAs HIV diagnoses continue to decrease and rates of viral suppression increase in the United States, key populations of underserved individuals represent a disproportionate share of those left undiagnosed, unengaged in care, and not virally suppressed. In 2021, the Health Resources and Services Administration's HIV/AIDS Bureau funded 20 HIV care organizations across the United States to implement seven innovative evidence-based interventions to engage individuals in the following four focus areas: LGBTQ+ youth, people with substance-use disorder, individuals with incarceration experience, and those for whom telehealth may reduce barriers to care. This article explores themes of implementer experiences common across interventions serving the four focus areas.
View Article and Find Full Text PDFBackground And Objectives: Identification of colorectal cancer (CRC) patients at high risk of recurrence could be of substantial clinical use. We evaluated the association of ctDNA status, using a tumor-informed assay, with recurrence-free survival (RFS).
Methods: Stage III CRC patients were enrolled between 2016 and 2020.
Introduction: Crohn's disease (CD) varies by location, potentially affecting therapy efficacy and surgery risk, although research on this topic is conflicting. This study aims to investigate the independent association between CD location and therapeutic patterns.
Methods: We analyzed patients with CD diagnosed from January 2005 to May 2023 registered in the nationwide ENEIDA registry.
We identified an AMOTL1 variant in a patient that adds evidence supporting the clinical and molecular overlap between AMOTL1-related disorders and other syndromes affecting craniofacial, cardiac, and hepatic development. As more cases are identified, we propose naming this entity as AMOTL1-associated multiple congenital anomalies or craniofaciocardiohepatic syndrome (CFCHS).
View Article and Find Full Text PDFBreast cancer metastasis to the brain is a clinical challenge rising in prevalence. However, the underlying mechanisms, especially how cancer cells adapt a distant brain niche to facilitate colonization, remain poorly understood. A unique metabolic feature of the brain is the coupling between neurons and astrocytes through glutamate, glutamine, and lactate.
View Article and Find Full Text PDFCirculating tumor DNA (ctDNA) holds promise as a biomarker for predicting clinical responses to therapy in solid tumors, and multiple ctDNA assays are in development. However, the heterogeneity in ctDNA levels prior to treatment (baseline) across different cancer types and stages and across ctDNA assays has not been widely studied. Friends of Cancer Research formed a collaboration across multiple commercial ctDNA assay developers to assess baseline ctDNA levels across five cancer types in early- and late-stage disease.
View Article and Find Full Text PDFOver the past two decades, sharks have been increasingly recognized among the world's most threatened wildlife and hence have received heightened scientific and regulatory scrutiny. Yet, the effect of protective regulations on shark fishing mortality has not been evaluated at a global scale. Here we estimate that total fishing mortality increased from at least 76 to 80 million sharks between 2012 and 2019, ~25 million of which were threatened species.
View Article and Find Full Text PDFScientific bottom-trawl surveys are ecological observation programs conducted along continental shelves and slopes of seas and oceans that sample marine communities associated with the seafloor. These surveys report taxa occurrence, abundance and/or weight in space and time, and contribute to fisheries management as well as population and biodiversity research. Bottom-trawl surveys are conducted all over the world and represent a unique opportunity to understand ocean biogeography, macroecology, and global change.
View Article and Find Full Text PDFSnijders Blok-Campeau syndrome (SNIBCPS, OMIM# 618205) is an extremely infrequent disease with only approximately 60 cases reported so far. SNIBCPS belongs to the group of neurodevelopmental disorders (NDDs). Clinical features of patients with SNIBCPS include global developmental delay, intellectual disability, speech and language difficulties and behavioral disorders like autism spectrum disorder.
View Article and Find Full Text PDFMarine heatwaves have been linked to negative ecological effects in recent decades. If marine heatwaves regularly induce community reorganization and biomass collapses in fishes, the consequences could be catastrophic for ecosystems, fisheries and human communities. However, the extent to which marine heatwaves have negative impacts on fish biomass or community composition, or even whether their effects can be distinguished from natural and sampling variability, remains unclear.
View Article and Find Full Text PDFPeripheral blood mononuclear cells (PBMCs) are blood cells that are a critical part of the immune system used to fight off infection, defending our bodies from harmful pathogens. In biomedical research, PBMCs are commonly used to study global immune response to disease outbreak and progression, pathogen infections, for vaccine development and a multitude of other clinical applications. Over the past few years, the revolution in single-cell RNA sequencing (scRNA-seq) has enabled an unbiased quantification of gene expression in thousands of individual cells, which provides a more efficient tool to decipher the immune system in human diseases.
View Article and Find Full Text PDFNeurodevelopmental disorders (NDDs) result from impaired development and functioning of the brain. Here, we identify loss-of-function variation in as a novel cause for syndromic intellectual disability (ID). ZFHX3, previously known as ATBF1, is a zinc-finger homeodomain transcription factor involved in multiple biological processes including cell differentiation and tumorigenesis.
View Article and Find Full Text PDFPurpose: This review summarizes the published evidence on the clinical impact of using next-generation sequencing (NGS) tests to guide management of patients with cancer in the United States.
Methods: We performed a comprehensive literature review to identify recent English language publications that presented progression-free survival (PFS) and overall survival (OS) of patients with advanced cancer receiving NGS testing.
Results: Among 6,475 publications identified, 31 evaluated PFS and OS among subgroups of patients who received NGS-informed cancer management.
Sharks and rays are key functional components of coral reef ecosystems, yet many populations of a few species exhibit signs of depletion and local extinctions. The question is whether these declines forewarn of a global extinction crisis. We use IUCN Red List to quantify the status, trajectory, and threats to all coral reef sharks and rays worldwide.
View Article and Find Full Text PDFAlthough the Paris Agreement establishes targets to limit global warming-including carbon market mechanisms-little research has been done on developing operational tools to achieve them. To cover this gap, we use CO permit markets towards a market-based solutions (MBS) scheme to implement blue carbon climate targets for global fisheries. The scheme creates a scarcity value for the right to not sequester blue carbon, generating an asset of carbon sequestration allowances based on historical landings, which are considered initial allowances.
View Article and Find Full Text PDFRebuilding overexploited marine populations is an important step to achieve the United Nations' Sustainable Development Goal 14-Life Below Water. Mitigating major human pressures is required to achieve rebuilding goals. Climate change is one such key pressure, impacting fish and invertebrate populations by changing their biomass and biogeography.
View Article and Find Full Text PDFFishing provides the world with an important component of its food supply, but it also negatively impacts the biodiversity of marine and freshwater ecosystems, especially when industrial fishing is involved. To mitigate these impacts, civil society needs access to fisheries data (i.e.
View Article and Find Full Text PDFHuntington's disease is a fatal neurodegenerative disease characterized by striatal neurodegeneration, aggregation of mutant Huntingtin and the presence of reactive astrocytes. Astrocytes are important partners for neurons and engage in a specific reactive response in Huntington's disease that involves morphological, molecular and functional changes. How reactive astrocytes contribute to Huntington's disease is still an open question, especially because their reactive state is poorly reproduced in experimental mouse models.
View Article and Find Full Text PDFUnderstanding the emergence of lymphoid committed cells from multipotent progenitors (MPP) is a great challenge in hematopoiesis. To gain deeper insight into the dynamic expression changes associated with these transitions, we report the quantitative transcriptome of two MPP subsets and the common lymphoid progenitor (CLP). While the transcriptome is rather stable between MPP2 and MPP3, expression changes increase with differentiation.
View Article and Find Full Text PDFZinc finger (ZF), transcription activator-like effectors (TALE), and CRISPR/Cas9 therapies to regulate gene expression are becoming viable strategies to treat genetic disorders, although effective delivery systems for these proteins remain a major translational hurdle. We describe the use of a mesenchymal stem/stromal cell (MSC)-based delivery system for the secretion of a ZF protein (ZF-MSC) in transgenic mouse models and young rhesus monkeys. Secreted ZF protein from mouse ZF-MSC was detectable within the hippocampus 1 week following intracranial or cisterna magna (CM) injection.
View Article and Find Full Text PDFPatient satisfaction is linked to the amount of time spent with the physician. At the same time, long waiting times in hospitals are a major source of patient dissatisfaction. The aim of this study was to determine whether advance approval of outpatient chemotherapy (CT) via phone call can optimize healthcare delivery without compromising patient satisfaction with care.
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