Across eukaryotes, genome stability is essential for normal cell function, physiology, and species survival. Aberrant expression of key genes or exposure to genotoxic agents can have detrimental effects on genome stability and contribute to the development of various diseases, including cancer. Chromosome instability (CIN), or ongoing changes in chromosome complements, is a frequent form of genome instability observed in cancer and is a driver of genetic and cell-to-cell heterogeneity that can be rapidly detected and quantitatively assessed using surrogate markers of CIN.
View Article and Find Full Text PDFPomBase (https://www.pombase.org), the model organism database (MOD) for fission yeast, was recently awarded Global Core Biodata Resource (GCBR) status by the Global Biodata Coalition (GBC; https://globalbiodata.
View Article and Find Full Text PDFIntroduction And Hypothesis: To define the prevalence and incidence of pelvic/low back pain in patients with pelvic organ prolapse (POP).
Methods: Patients presenting for POP to three urogynecology centers in the US, UK, and Chile were enrolled in an IRB-approved cross-sectional study assessing pain, GU, GI and sexual function symptoms. For prevalence, symptoms were noted as present if the participant recorded the symptom and reported the degree of bother as "somewhat," "a moderate amount," or "a lot.
The etiologies of newborn deaths in neonatal intensive care units usually remain unknown, even after genetic testing. Whole-genome sequencing, combined with artificial intelligence-based methods for predicting the effects of non-coding variants, provide an avenue for resolving these deaths. Using one such method, SpliceAI, we identified a maternally inherited deep intronic PKHD1 splice variant (chr6:52030169T>C), in trans with a pathogenic missense variant (p.
View Article and Find Full Text PDFProteolysis targeting chimeras (PROTAC) are an emerging precision medicine strategy, which targets key proteins for proteolytic degradation to ultimately induce cancer cell killing. These hetero-bifunctional molecules hijack the ubiquitin proteasome system to selectively add polyubiquitin chains onto a specific protein target to induce proteolytic degradation. Importantly, PROTACs have the capacity to target virtually any intracellular and transmembrane protein for degradation, including oncoproteins previously considered undruggable, which strategically positions PROTACs at the crossroads of multiple cancer research areas.
View Article and Find Full Text PDFUnderstanding the relationships between social stress and the gastrointestinal microbiota, and how they influence host health and performance is expected to have many scientific and commercial implementations in different species, including identification and improvement of challenges to animal welfare and health. In particular, the study of the stress impact on the gastrointestinal microbiota of pigs may be of interest as a model for human health. A porcine stress model based on repeated regrouping and reduced space allowance during the last 4 weeks of the finishing period was developed to identify stress-induced changes in the gut microbiome composition.
View Article and Find Full Text PDFIt is common in many countries for sheep to be housed during winter from mid-gestation until lambing to protect ewes and lambs from adverse conditions and improve late gestation nutritional management. Keeping ewes indoors, however, has its own challenges as the animals may be mixed with unfamiliar conspecifics, have limited floor and feeding space, experience changes to their diet and increased handling by humans. Therefore, the objective of this study was to investigate the effect of variation in housing management (space allowance and social stability) on the behaviour and hypothalamic-pituitary-adrenal (HPA) axis responses of pregnant ewes from mid-to-late gestation (weeks 11-18 of pregnancy).
View Article and Find Full Text PDFStandardized nomenclature for genes, gene products, and isoforms is crucial to prevent ambiguity and enable clear communication of scientific data, facilitating efficient biocuration and data sharing. Standardized genotype nomenclature, which describes alleles present in a specific strain that differ from those in the wild-type reference strain, is equally essential to maximize research impact and ensure that results linking genotypes to phenotypes are Findable, Accessible, Interoperable, and Reusable (FAIR). In this publication, we extend the fission yeast clade gene nomenclature guidelines to support the curation efforts at PomBase (www.
View Article and Find Full Text PDFSalmonella is a common food-borne pathogen with Enteritidis and Typhimurium being among the most important serovars causing numerous outbreaks. A rapid method was investigated to identify these serovars using whole-cell MALDI-TOF MS coupled with multivariate analysis and artificial intelligence and 113 Salmonella strains, including 38 Enteritidis (SE), 38 Typhimurium (ST) and 37 strains from 32 other Salmonella serovars (SG). Datasets of ions (presence/absence) with high discriminative power were created using newly developed criteria and subject to multivariate analyses and eight artificial intelligence (AI) tools.
View Article and Find Full Text PDFNumerous facilities around the world offer tourists interactive experiences with captive tigers. Yet, the animal welfare implications of this practice have not been widely studied. This study aimed to investigate whether qualitative behavioral assessment (QBA) could: (i) provide a valid indicator of tiger's emotional state and (ii) be applied to assess whether unfamiliar human presence with hand-raised captive tigers had an impact on the emotional state of those tigers.
View Article and Find Full Text PDFPurpose: Worker mental health has emerged as one of the most significant challenges in contemporary workplaces. Knowing what intervention is effective is important to help workers adapt to mental health disorders but connecting workers to helpful resources is just as important and perhaps more of a challenge. With the multiple stakeholders involved, mental health disorders arising in the workplace pose specific challenges to help-seeking.
View Article and Find Full Text PDFThe quantity and complexity of data being generated and published in biology has increased substantially, but few methods exist for capturing knowledge about phenotypes derived from molecular interactions between diverse groups of species, in such a way that is amenable to data-driven biology and research. To improve access to this knowledge, we have constructed a framework for the curation of the scientific literature studying interspecies interactions, using data curated for the Pathogen-Host Interactions database (PHI-base) as a case study. The framework provides a curation tool, phenotype ontology, and controlled vocabularies to curate pathogen-host interaction data, at the level of the host, pathogen, strain, gene, and genotype.
View Article and Find Full Text PDFPediatr Emerg Med Pract
July 2023
Asthma is the most common chronic disease of childhood. Although home action plans and the use of maintenance medications have improved daily management and control of asthma, many children still require emergency department care at least once per year. Emergency clinicians must be able to manage patients with acute asthma exacerbations and determine their safe disposition.
View Article and Find Full Text PDFThe Payne Effect (also known as the Fletcher-Gent Effect) has a fundamental impact on the behavior of filled rubber composites and therefore must be considered during their design. This study investigates the influence of carbon black (CB) surface area and structure on the observed Payne Effect and builds on the existing models of Kraus and Ulmer to explain this phenomenon. Dynamic strain sweeps were carried out on natural rubber (NR) compounds containing eight different grades of CB at equivalent volume fractions.
View Article and Find Full Text PDFThe Gene Ontology (GO) knowledgebase (http://geneontology.org) is a comprehensive resource concerning the functions of genes and gene products (proteins and noncoding RNAs). GO annotations cover genes from organisms across the tree of life as well as viruses, though most gene function knowledge currently derives from experiments carried out in a relatively small number of model organisms.
View Article and Find Full Text PDFRes Sq
December 2022
Background: The vast majority of phylogenetic trees are inferred from molecular sequence data (nucleotides or amino acids) using time-reversible evolutionary models which assume that, for any pair of nucleotide or amino acid characters, the relative rate of X to Y substitution is the same as the relative rate of Y to X substitution. However, this reversibility assumption is unlikely to accurately reflect the actual underlying biochemical and/or evolutionary processes that lead to the fixation of substitutions. Here, we use empirical viral genome sequence data to reveal that evolutionary non-reversibility is pervasive among most groups of viruses.
View Article and Find Full Text PDFJ Clin Exp Neuropsychol
February 2022
Introduction: Raven's Advanced Progressive Matrices (APM) are frequently utilized in clinical and experimental settings to index intellectual capacity. As the APM is a relatively long assessment, abridged versions of the test have been proposed. The psychometric properties of an untimed 12-item APM have received some consideration in the literature, but validity explorations have been limited.
View Article and Find Full Text PDFPurpose: This research intended to identify current practices being implemented with children who have a history or suspected history of opioid exposure, as well as challenges faced by speech-language pathologists in the schools.
Method: Focus group data from three groups totaling 20 speech-language pathologists (SLPs) working in schools in West Virginia, also used in a previous study, were analyzed using qualitative thematic analysis to better understand SLP service provision to children with a history or suspected history of opioid exposure.
Results: Results revealed two primary themes, reported as (a) service delivery in action (current practice trends and challenges) and (b) affective/cognitive manifestations (uncertainty about their role and various emotions expressed) of the SLPs who participated in the focus groups.
The S-phase Kinase-Associated Protein 1 (SKP1) is a core component of the SKP1, Cullin 1, F-box protein (SCF) complex, an E3 ubiquitin ligase that serves to poly-ubiquitinate a vast array of protein targets as a signal for their proteasomal degradation, thereby playing a critical role in the regulation of downstream biological processes. Many of the proteins regulated by SKP1 and the SCF complex normally function within pathways that are essential for maintaining genome stability, including DNA damage repair, apoptotic signaling, and centrosome dynamics. Accordingly, aberrant SKP1 and SCF complex expression and function is expected to disrupt these essential pathways, which may have pathological implications in diseases like cancer.
View Article and Find Full Text PDFPomBase (www.pombase.org), the model organism database (MOD) for the fission yeast Schizosaccharomyces pombe, supports research within and beyond the S.
View Article and Find Full Text PDFPurpose: Therapy-related myelodysplastic syndrome and acute leukemias (t-MDS/AL) are a major cause of nonrelapse mortality among pediatric cancer survivors. Although the presence of clonal hematopoiesis (CH) in adult patients at cancer diagnosis has been implicated in t-MDS/AL, there is limited published literature describing t-MDS/AL development in children.
Experimental Design: We performed molecular characterization of 199 serial bone marrow samples from 52 patients treated for high-risk neuroblastoma, including 17 with t-MDS/AL (transformation), 14 with transient cytogenetic abnormalities (transient), and 21 without t-MDS/AL or cytogenetic alterations (neuroblastoma-treated control).