Cases for a disease can be defined broadly using diagnostic codes, or narrowly using gold-standard confirmation that often is not available in large administrative datasets. These different definitions can have significant impacts on the results and conclusions of studies. We conducted this study to assess how using melanoma phecodes versus histologic confirmation for invasive or in situ melanoma impacts the results of a genome-wide association study (GWAS) using the Million Veteran Program.
View Article and Find Full Text PDFAnn Allergy Asthma Immunol
January 2025
Background: Most of the Fractional exhaled Nitric Oxide (FeNO)'s physiological production occurs in small airways, but the relationship between FeNO and small airway disease (SAD) in asthma is scant.
Objective: To investigate the relationship between asthma control, changes of FeNO in relation to airway bronchodilation (BD), and SAD.
Methods: Baseline conventional spirometry, impulse oscillometry (IOS), and FeNO pre- and post-bronchodilation (salbutamol 400 mcg) were tested on consecutive community-treated adult asthmatic patients.
Motivation: Next-generation sequencing technologies, such as whole genome sequencing (WGS), have become prominent in cancer genomics. However, managing, visualizing, and integratively analyzing WGS results across various bioinformatic pipelines remains challenging, particularly for non-bioinformaticians, hindering the usability of WGS data for biological discovery.
Results: We developed Sherlock-Genome, an R Shiny app for data harmonization, visualization, and integrative analysis of WGS-based cancer genomics studies.
Genome-wide association studies (GWAS) of melanoma risk have identified 68 independent signals at 54 loci. For most loci, specific functional variants and their respective target genes remain to be established. Capture-HiC is an assay that links fine-mapped risk variants to candidate target genes by comprehensively mapping cell-type specific chromatin interactions.
View Article and Find Full Text PDFInnovations in light technologies (i.e. Light Emitting Diodes; LED) and cover films with specific optical features (e.
View Article and Find Full Text PDFBackground: Increased lung-cancer risks for low socioeconomic status (SES) groups are only partially attributable to smoking habits. Little effort has been made to investigate the persistent risks related to low SES by quantification of potential biases.
Methods: Based on 12 case-control studies, including 18 centers of the international SYNERGY project (16,550 cases, 20,147 controls), we estimated controlled direct effects (CDE) of SES on lung cancer via multiple logistic regression, adjusted for age, study center, and smoking habits, and stratified by sex.
The flavonoid pathway is characteristic of land plants and a central biosynthetic component enabling life in a terrestrial environment. Flavonoids provide tolerance to both abiotic and biotic stresses and facilitate beneficial relationships, such as signalling to symbiont microorganisms, or attracting pollinators and seed dispersal agents. The biosynthetic pathway shows great diversity across species, resulting principally from repeated biosynthetic gene duplication and neofunctionalization events during evolution.
View Article and Find Full Text PDFKiwifruit () cultivation is expanding worldwide, with China, New Zealand, and Italy being the major producing countries. , the brown marmorated stink bug, is raising serious concerns to kiwifruit cultivation both in China and Italy. This study aimed at improving the chemical control efficacy against this pest by comparing two insecticide spray techniques (a conventional ray atomizer and a trumpet-modified atomizer adapted for localized spray application) in kiwifruit.
View Article and Find Full Text PDFThe integration of multidisciplinary tumor boards (MTBs) is fundamental in delivering state-of-the-art cancer treatment, facilitating collaborative diagnosis and management by a diverse team of specialists. Despite the clear benefits in personalized patient care and improved outcomes, the increasing burden on MTBs due to rising cancer incidence and financial constraints necessitates innovative solutions. The advent of artificial intelligence (AI) in the medical field offers a promising avenue to support clinical decision-making.
View Article and Find Full Text PDFRandomized controlled trials have demonstrated responses to clinical parameters, but a significant proportion of allergy patients in real-life settings would have been excluded from such studies. Therefore, real-world research is needed, and there is a growing body of information on allergen immunotherapy's long-term effectiveness and safety. Real-world evidence can be a valuable instrument to better understand the patient's journey and the effectiveness and safety of therapies.
View Article and Find Full Text PDFAs there has been no scientific evidence of the bioactivity of (Adoxaceae) extracts against insects, we chemically characterized leaves and flowers extracted in methanol and water. The crude extracts, phenolic compounds, and amino acids isolated were tested as larvicides against the fourth-instar larvae of and (Diptera: Culicidae). To understand their mode of action, we evaluated the in vitro acetylcholinesterase (AChE) inhibitor effect of the crude extracts on the two mosquito larvae through a colorimetric method.
View Article and Find Full Text PDFLung cancer in never smokers (LCINS) accounts for up to 25% of all lung cancers and has been associated with exposure to secondhand tobacco smoke and air pollution in observational studies. Here, we evaluate the mutagenic exposures in LCINS by examining deep whole-genome sequencing data from a large international cohort of 871 treatment-naïve LCINS recruited from 28 geographical locations within the Sherlock- study. mutations were 3.
View Article and Find Full Text PDFAPOBEC enzymes are part of the innate immunity and are responsible for restricting viruses and retroelements by deaminating cytosine residues. Most solid tumors harbor different levels of somatic mutations attributed to the off-target activities of APOBEC3A (A3A) and/or APOBEC3B (A3B). However, how APOBEC3A/B enzymes shape the tumor evolution in the presence of exogenous mutagenic processes is largely unknown.
View Article and Find Full Text PDFStrawberry, a globally popular crop whose fruit are known for their taste and health benefits, were used to evaluate the effects of polyethylene microplastics (PE-MPs) on plant physiology and fruit quality. Plants were grown in 2-L pots with natural soil mixed with PE-MPs at two concentrations (0.2% and 0.
View Article and Find Full Text PDFOrchids (Phalaenopsis spp.) growing in tropical and subtropical regions are epiphytes. As such, they grow on trees with the root system utilised to anchor themselves to tree branches.
View Article and Find Full Text PDFIn our previous work, we demonstrated that it is feasible to perform analysis on mutation signature data without the need for downloads or installations and analyze individual patient data at scale without compromising privacy. Building on this foundation, we developed an in-browser Software Development Kit (a JavaScript SDK), mSigSDK, to facilitate the orchestration of distributed data processing workflows and graphic visualization of mutational signature analysis results. We strictly adhered to modern web computing standards, particularly the modularization standards set by the ECMAScript ES6 framework (JavaScript modules).
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