Galápagos iguanas are a monophyletic group endemic to the Galápagos archipelago, comprising the marine iguana Amblyrhynchus cristatus and three species of land iguanas: Conolophus subcristatus, C. pallidus and C. marthae.
View Article and Find Full Text PDFContext: Pachydermoperiostosis (primary hypertrophic osteoarthropathy, PHO) usually due to biallelic loss-of-function variants in HPGD and SLCO2A1, has some features overlapping with acromegaly and often referred to endocrinologists. A detailed endocrine assessment is not available for these patients.
Objective: To assess the genetic and endocrine characteristics of PHO patients referred to endocrine centres with a possible diagnosis of acromegaly.
Medical image-based diagnostic techniques have become increasingly common in the clinic. Estimating fractional flow reserve in coronary stenoses from medical image data is among the most prominent examples. The modeling techniques used in these clinical tools require rigorous experimental validation yet there is currently no standardized, public toolset to help assess model credibility.
View Article and Find Full Text PDFBioinform Biol Insights
September 2024
Gene ontology phrases are a widely used set of hierarchical terms that describe the biological properties of genes. These terms are then used to annotate individual genes, making it possible to determine the likely physiological properties of groups of genes such as a list of differentially expressed genes. Consequently, their ability to predict changes in biological features and functions based on alterations in gene expression has made gene ontology terms popular in the wide range of bioinformatic fields, such as differential gene expression and evolutionary biology.
View Article and Find Full Text PDFThis Letter presents results from a combination of searches for Higgs boson pair production using 126-140 fb^{-1} of proton-proton collision data at sqrt[s]=13 TeV recorded with the ATLAS detector. At 95% confidence level (CL), the upper limit on the production rate is 2.9 times the standard model (SM) prediction, with an expected limit of 2.
View Article and Find Full Text PDFSummary: Mitochondrial DNA sequences are used extensively in phylogeographic and phylogenetic studies for a wide range of organisms. With the advent of low-cost, high throughput 'next generation' DNA sequencing, and user-friendly bioinformatics pipelines for generating and annotating whole mitochondrial genome assemblies, the analysis of whole mitochondrial genomes has become an important component of phylogenomic studies for taxa with high species diversity but limited coverage for other genomic resources. An important step in characterizing de novo mitochondrial genome assemblies is to evaluate and describe structural rearrangements relative to reference taxa.
View Article and Find Full Text PDFObjectives: Students who obtain food from a campus food pantry may benefit from participating in a nutrition/cooking intervention.
Participants And Methods: Twenty-seven students 18-30 years of age attending a university in the southeastern US participated in the IRB approved study. One 2-hour class was offered each week for four weeks in the on-campus cooking laboratory.
The study was designed to investigate the effects of replacing fish oil by algal oil and rapeseed oil on histomorphology indices of the intestine, skin and gill, mucosal barrier status and immune-related genes of mucin and antimicrobial peptide (AMP) genes in Atlantic salmon (Salmo salar). For these purposes, Atlantic salmon smolts were fed three different diets. The first was a control diet containing fish oil but no Schizochytrium oil.
View Article and Find Full Text PDFMeta-analysis of genome-wide association study data has implicated PDE4B in the pathogenesis of Alzheimer's disease (AD), the leading cause of senile dementia. PDE4B encodes one of four subtypes of cyclic adenosine monophosphate (cAMP)-specific phosphodiesterase-4 (PDE4A-D). To interrogate the involvement of PDE4B in the manifestation of AD-related phenotypes, the effects of a hypomorphic mutation (Pde4b) that decreases PDE4B's cAMP hydrolytic activity were evaluated in the App knock-in mouse model of AD using the Barnes maze test of spatial memory, C-2-deoxyglucose autoradiography, thioflavin-S staining of β-amyloid (Aβ) plaques, and inflammatory marker assay and transcriptomic analysis (RNA sequencing) of cerebral cortical tissue.
View Article and Find Full Text PDFSingle-cell RNA sequencing has revolutionized our understanding of cellular heterogeneity, but routine methods require cell lysis and fail to probe the dynamic trajectories responsible for cellular state transitions, which can only be inferred. Here, we present a nanobiopsy platform that enables the injection of exogenous molecules and multigenerational longitudinal cytoplasmic sampling from a single cell and its progeny. The technique is based on scanning ion conductance microscopy (SICM) and, as a proof of concept, was applied to longitudinally profile the transcriptome of single glioblastoma (GBM) brain tumor cells in vitro over 72 hours.
View Article and Find Full Text PDFCyclin D2 (CCND2) stabilization underpins a range of macrocephaly-associated disorders through mutation of CCND2 or activating mutations in upstream genes encoding PI3K-AKT pathway components. Here, we describe three individuals with overlapping macrocephaly-associated phenotypes who carry the same recurrent de novo c.179G>A (p.
View Article and Find Full Text PDFBackground: The Eating and Food Literacy Behaviors Questionnaire (EFLBQ) is an instrument that has not been tested for its capacity to distinguish among individuals assumed to have higher and lower food literacy.
Objective: The aim of this study was to examine and compare EFLBQ scores among university students with and without formal nutrition-related training.
Design: This study had a cross-sectional design.
Exit of quiescent disseminated cancer cells from dormancy is thought to be responsible for metastatic relapse and a better understanding of dormancy could pave the way for novel therapeutic approaches. We used an model of triple negative breast cancer brain metastasis to identify differences in transcriptional profiles between dormant and proliferating cancer cells in the brain. gene, encoding a small proteoglycan biglycan, was strongly upregulated in dormant cancer cells .
View Article and Find Full Text PDFIntroduction: RPGR ORF15 is an exon present almost exclusively in the retinal transcript of RPGR. It is purine-rich, repetitive and notoriously hard to sequence, but is a hotspot for mutations causing X-linked retinitis pigmentosa.
Methods: Long-read nanopore sequencing on MinION and Flongle flow cells was used to sequence RPGR ORF15 in genomic DNA from patients with inherited retinal dystrophy.
In response to the respiratory protection device shortage during the COVID-19 pandemic, the additive manufacturing (AM) community designed and disseminated numerous AM face masks. Questions regarding the effectiveness of AM masks arose because these masks were often designed with limited (if any) functional performance evaluation. In this study, we present a fit evaluation methodology in which AM face masks are virtually donned on a standard digital headform using finite element-based numerical simulations.
View Article and Find Full Text PDFThe focus of the current paper is on a design of responsible governance of food consumer science e-infrastructure using the case study Determinants and Intake Data Platform (DI Data Platform). One of the key challenges for implementation of the DI Data Platform is how to develop responsible governance that observes the ethical and legal frameworks of big data research and innovation, whilst simultaneously capitalizing on huge opportunities offered by open science and the use of big data in food consumer science research. We address this challenge with a specific focus on four key governance considerations: data type and technology; data ownership and intellectual property; data privacy and security; and institutional arrangements for ethical governance.
View Article and Find Full Text PDFBiomed Phys Eng Express
October 2021
The use of energy-based devices to treat genitourinary syndrome of menopause, termed vaginal thermotherapy (VTT), has gained significant interest in recent years. Among the primary safety concerns of this relatively new procedure is the possibility of unintentionally heating tissues adjacent to the vaginal wall, i.e.
View Article and Find Full Text PDFIntroduction: During robot-assisted surgery (RAS), changes to the operating room configuration pose challenges to communication by limiting team members' ability to see one another or use gesture. Referencing (the act of pointing out an object or area in order to coordinate action around it), may be susceptible to miscommunication due to these constraints.
Objectives: Explore the use of microanalysis to describe and evaluate communicative efficiency in RAS through examination of referencing in surgical tasks.
Background: Breast cancer stem cells (BCSCs) are drivers of therapy-resistance, therefore are responsible for poor survival. Molecular signatures of BCSCs from primary cancers remain undefined. Here, we identify the consistent transcriptome of primary BCSCs shared across breast cancer subtypes, and we examine the clinical relevance of ITGA7, one of the genes differentially expressed in BCSCs.
View Article and Find Full Text PDFObjectives: Plasmacytoid dendritic cells (pDC) have been implicated in the pathogenesis of autoimmune diseases, such as scleroderma (SSc). However, this has been derived from indirect evidence using human samples or mouse pDC . We have developed human-specific pDC models to directly identify their role in inflammation and fibrosis, as well as attenuation of pDC function with BDCA2-targeting to determine its therapeutic application.
View Article and Find Full Text PDFHuman plasmacytoid dendritic cells (pDCs) play a vital role in modulating immune responses. They can produce massive amounts of type I IFNs in response to nucleic acids via TLRs, but they are also known to possess weak Ag-presenting properties inducing CD4 T cell activation. Previous studies showed a cross-regulation between TNF-α and IFN-α, but many questions remain about the effect of TNF-α in regulating human pDCs.
View Article and Find Full Text PDFBackground: Face coverings constitute an important strategy for containing pandemics, such as COVID-19. Infection from airborne respiratory viruses including Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) can occur in at least three modes; tiny and/or dried aerosols (typically < 1.0 μm) generated through multiple mechanisms including talking, breathing, singing, large droplets (> 0.
View Article and Find Full Text PDFAutoimmune connective tissue diseases arise in a stepwise fashion from asymptomatic preclinical autoimmunity. Type I interferons have a crucial role in the progression to established autoimmune diseases. The cellular source and regulation in disease initiation of these cytokines is not clear, but plasmacytoid dendritic cells have been thought to contribute to excessive type I interferon production.
View Article and Find Full Text PDFCollege students are challenged to consume healthy diets, and veterinary medical students may also have difficulty achieving optimal dietary intake, yet improved well-being is associated with following healthy dietary patterns. Individuals with food literacy-the inter-related knowledge, skills, and behaviors to plan and manage, select, prepare, and eat healthy foods-are better able to meet dietary recommendations. The program developed and tested a nutrition education/culinary skill-building program to build first- and second-year veterinary medicine students' food literacy and healthy behaviors toward food.
View Article and Find Full Text PDFBackground: Uric acid, a metabolic product of purine degradation in humans, is a risk factor for developing gout and type 2 diabetes, and supplementation with quercetin lowers plasma uric acid in mildly hyperuricemic men. Here we examined the mechanism of inhibition of enzymes involved in uric acid metabolism by quercetin, conjugates and microbial catabolites, and measured the effect of lowered circulating uric acid on endothelial cell gene expression.
Methods: Inhibition of adenosine deaminase (ADA), purine nucleoside phosphorylase (PNP) and xanthine oxidoreductase (XOR) activity by quercetin and metabolites was determined by HPLC.