Tumour content plays a pivotal role in directing the bioinformatic analysis of molecular profiles such as copy number variation (CNV). In clinical application, tumour purity estimation (TPE) is achieved either through visual pathological review [conventional pathology (CP)] or the deconvolution of molecular data. While CP provides a direct measurement, it demonstrates modest reproducibility and lacks standardisation.
View Article and Find Full Text PDFWith increasing research interest in extrinsic interpersonal emotion regulation, this article aims to address the critical need for a unified language framework to strengthen and support these research efforts. Despite increasing interest and research in this area, the lack of consistent terminology poses significant challenges to conceptual clarity and scientific progress. By examining the current landscape, the authors identify the proliferation of varied terms across disciplines, which threatens to hamper effective communication and collaboration and, thus, progress.
View Article and Find Full Text PDFWhole genome sequencing has transformed rare disease research; however, 50-80% of rare disease patients remain undiagnosed after such testing. Regular reanalysis can identify new diagnoses, especially in newly discovered disease-gene associations, but efficient tools are required to support clinical interpretation. Exomiser, a phenotype-driven variant prioritisation tool, fulfils this role; within the 100,000 Genomes Project (100kGP), diagnoses were identified after reanalysis in 463 (2%) of 24,015 unsolved patients after previous analysis for variants in known disease genes.
View Article and Find Full Text PDFKing (Chinook) salmon is the only salmon species farmed in Aotearoa New Zealand and accounts for over half of the world's production of king salmon. Determining the health status of king salmon effectively is important for farming. However, it is a challenging task due to the complex biotic and abiotic factors that influence health.
View Article and Find Full Text PDFStingray injury is common in temperate and tropical waters worldwide. The majority of injuries are minor and can be managed with simple first aid at the shoreline; however, serious complications can occur. We report a case of Vibrio alginolyticus wound infection, retained foreign body, and posterior tibial artery pseudoaneurysm after stingray envenomation in a returning traveler.
View Article and Find Full Text PDFPLoS Negl Trop Dis
December 2024
Introduction: The World Health Organization (WHO) recommends rifampicin, dapsone and clofazimine multi-drug therapy (MDT) for the treatment of leprosy. Severe adverse effects include dapsone hypersensitivity syndrome, skin pigmentation, haemolytic anaemia, and hepatitis. At the Hospital for Tropical Diseases (HTD), London, United Kingdom monthly rifampicin, ofloxacin and minocycline (mROM) is used as first line treatment for leprosy.
View Article and Find Full Text PDFObjectives: Whilst public health measures were effective in reducing COVID-19 transmission, unintended negative consequences may have occurred. This study aims to assess changes alcohol consumption and the heavy episodic drinking (HED) during the pandemic.
Methods: Data were from the Optimise Study, a longitudinal cohort of Australian adults September 2020-August 2022 that over-sampled priority populations at higher risk of contracting COVID-19, developing severe COVID-19 or experiencing adverse consequences of lockdowns.
Background: There is a lack of evidence on effective treatments for depression in people with T2DM, particularly in Low and Middle-Income Countries (LMICs). This study aims to test the feasibility and acceptability of a culturally adapted Behavioural Activation (BA) intervention (DiaDeM) for people with depression and T2DM in two South Asian LMICs.
Methods: A multicountry, individually randomised-controlled feasibility trial was conducted from March 2022 to November 2022.
Leprosy, a neglected tropical disease, causes significant morbidity in marginalized communities. Before the COVID-19 pandemic, annual new case detection plateaued for over a decade at ~200,000 new cases. The clinical phenotypes of leprosy strongly parallel host immunity to its causative agents Mycobacterium leprae and Mycobacterium lepromatosis.
View Article and Find Full Text PDFIn this study, we used a three-dimensional airway "organ tissue equivalent" (OTE) model at an air-liquid interface (ALI) to mimic human airways. We investigated the effects of three viruses (Influenza A virus (IAV), Human metapneumovirus (MPV), and Parainfluenza virus type 3 (PIV3) on this model, incorporating various control conditions for data integrity. Our primary objective was to assess gene expression using the NanoString platform in OTE models infected with these viruses at 24- and 72-hour intervals, focusing on 773 specific genes.
View Article and Find Full Text PDFPurpose: To analyze the longitudinal epidemiology and antimicrobial resistance (AMR) patterns of Gram-negative bloodstream infections (BSI) in Germany.
Methods: Post-hoc analysis of prospectively documented BSI due to Escherichia coli, Klebsiella spp., Enterobacter spp.
Treatment with intra-vaginal progesterone pessaries for synchrony of estrus is essential in fixed-time artificial insemination (AI) of sheep. Globally, the conventional 14-day pessary treatment is the mainstay of commercial AI programs. It has remained largely unchanged for many decades even though it is associated with variable patterns of estrus and often disappointing pregnancy rates.
View Article and Find Full Text PDFObjectives: To assess whether plasma concentrations of the circulating inflammatory proteins Interleukin-6 (IL-6), Vascular Cell Adhesion Molecule-1 (VCAM-1) and C-Reactive Protein (CRP) are increased in women with preeclampsia with end-organ complications, compared with women with preeclampsia without end-organ complications.
Study Design: We used samples from a large prospective biobank collection (Preeclampsia Obstetric Adverse Event biobank), and two large, randomized preeclampsia therapeutic treatment trials. All samples were collected in Cape Town, South Africa.
Breast cancer affects 1/8 of women throughout their lifetimes, with 90% of cancer deaths being caused by metastasis. However, metastasis poses unique challenges to research, as complex changes in the microenvironment in different metastatic sites and difficulty obtaining tissue for study hinder the ability to examine in depth the changes that occur during metastasis. Rapid autopsy programs thus fill a unique need in advancing metastasis research.
View Article and Find Full Text PDFBackground: Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive or X-linked genetic condition.
Methods: We investigated the feasibility, acceptability, and outcomes of a nationwide, couple-based genetic carrier screening program in Australia as part of the Mackenzie's Mission project. Health care providers offered screening to persons before pregnancy or early in pregnancy.
Assembly theory (AT) aims to distinguish living from non-living systems by explaining and quantifying selection and evolution. The theory proposes that the degree of assembly depends on the number of complex objects, with complexity measured using a combination of the object's assembly index (AI) and its abundance. We previously provided experimental evidence supporting AT's predictive power, finding that abiotic systems do not randomly produce organic molecules with an AI greater than approximately 15 in detectable amounts.
View Article and Find Full Text PDFEarly-life stress (ELS) affects the development of prosocial behaviors and social-cognitive function, often leading to structural brain changes and increased psychosocial disorders. Recent studies suggest that mother- and father-child relationships independently influence social development in a sex-specific manner, but the effects of impaired father-child relationships are often overlooked. This review examines preclinical rodent studies to explore how parental neglect impacts neuroplasticity and social behaviors in offspring.
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