ETHNOS: A versatile electronic tool for the development and curation of national genetic databases

National and ethnic mutation databases (NEMDBs) are emerging online repositories, recording extensive information about the described genetic heterogeneity of an ethnic group or population. These resources facilitate the provision of genetic services and provide a comprehensive list of genomic variations among different populations. As such, they enhance awareness of the various genetic disorders. Here, we describe the features of the ETHNOS software, a simple but versatile tool based on a flat-file database that is specifically designed for the development and curation of NEMDBs. ETHNOS is a freely available softw

Wireless Direct Microampere Current in Wound Healing: Clinical and Immunohistological Data from Two Single Case Reports

Chronic pressure ulcers are hard-to-heal wounds that decrease the patient’s quality of life. Wireless Micro Current Stimulation (WMCS) is an innovative, non-invasive, similar to electrode-based electrostimulation (ES) technology, that generates and transfers ions that are negatively-charged to the injured tissue, using accessible air gases as a transfer medium. WMCS is capable of generating similar tissue potentials, as electrode-based ES, for injured tissue. Here, through immunohistochemistry, we intended to characterize the induced tissue healing biological mechanisms that occur during WMCS therapy. Two single cases of bedridden due to serious stroke white men with chronic non-healing pressure ulcers have been treated with WMCS technology. WMCS suppresses inflammatory responses by decreasing the aggregation of granulocytes, followed by stimulating myofibroblastic activity and a new formation of collagen fibers, as depicted by immunohistochemistry. As a result, WMCS provides a special adjunct or stand-alone therapy choice for chronic and non-healing injuries, similar to electrode-based ES, but with added (i.e., contactless) benefits towards its establishment as a routine clinical wound healing regime

ETHNOS : A versatile electronic tool for the development and curation of national genetic databases.

National and ethnic mutation databases (NEMDBs) are emerging online repositories, recording extensive information about the described genetic heterogeneity of an ethnic group or population. These resources facilitate the provision of genetic services and provide a comprehensive list of genomic variations among different populations. As such, they enhance awareness of the various genetic disorders. Here, we describe the features of the ETHNOS software, a simple but versatile tool based on a flat-file database that is specifically designed for the development and curation of NEMDBs. ETHNOS is a freely available software which runs more than half of the NEMDBs currently available. Given the emerging need for NEMDB in genetic testing services and the fact that ETHNOS is the only off-the-shelf software available for NEMDB development and curation, its adoption in subsequent NEMDB development would contribute towards data content uniformity, unlike the diverse contents and quality of the available gene (locus)-specific databases. Finally, we allude to the potential applications of NEMDBs, not only as worldwide central allele frequency repositories, but also, and most importantly, as data warehouses of individual-level genomic data, hence allowing for a comprehensive ethnicity-specific documentation of genomic variation

A critical view of the general public's awareness and physicians' opinion of the trends and potential pitfalls of genetic testing in Greece

Aim: Progress in deciphering the functionality of the human genome sequence in the wake of technological advances in the field of genomic medicine have dramatically reduced the overall costs of genetic analysis, thereby facilitating the incorporation of genetic testing services into mainstream clinical practice. Although Greek genetic testing laboratories offer a variety of different genetic tests, relatively little is known about how either the general public or medical practitioners perceive genetic testing services. Materials & methods: We have therefore performed a nationwide survey of the views of 1717 members of the general public, divided into three age groups, from all over Greece, and residing in both large and small cities and villages, in order to acquire a better understanding of how they perceive genetic testing. We also canvassed the opinions of 496 medical practitioners with regard to genetic testing services in a separate survey that addressed similar issues. Results: Our subsequent analysis indicated that a large proportion of the general public is aware of the nature of DNA, genetic disorders and the potential benefits of genetic testing, although this proportion declines steadily with age. Furthermore, a large proportion of the interviewed individuals would be willing to undergo genetic testing even if the cost of analysis was not covered by healthcare insurance. However, a relatively small proportion of the general public has actually been advized to undergo genetic testing, either by relatives or physicians. Most physicians believe that the regulatory and legal framework that governs genetic testing services in Greece is rather weak. Interestingly, the vast majority of the general public strongly opposes direct-access genetic testing, and most would prefer referral from a physician than from a pharmacist. Conclusion: Overall, our results provide a critical evaluation of the views of the general public with regard to genetics and genetic testing services in Greece and should serve as a model for replication in other populations

FINDbase: a worldwide database for genetic variation allele frequencies updated

Frequency of INherited Disorders database (FIND base; http://www.findbase.org) records frequencies of causative genetic variations worldwide. Database records include the population and ethnic group or geographical region, the disorder name and the related gene, accompanied by links to any related external resources and the genetic variation together with its frequency in that population. In addition to the regular data content updates, we report the following significant advances: (i) the systematic collection and thorough documentation of population/ethnic group-specific pharmacogenomic markers allele frequencies for 144 markers in 14 genes of pharmacogenomic interest from different classes of drug-metabolizing enzymes and transporters, representing 150 populations and ethnic groups worldwide; (ii) the development of new data querying and visualization tools in the expanded FINDbase data collection, built around Microsoft’s PivotViewer software (http://www.getpivot.com), based on Microsoft Silverlight technology (http://www.silverlight.net) that facilitates querying of large data sets and visualizing the results; and (iii) the establishment of the first database journal, by affiliating FINDbase with Human Genomics and Proteomics, a new open-access scientific journal, which would serve as a prime example of a non-profit model for sustainable database funding

Toxicity classification of e-cigarette flavouring compounds based on European Union regulation: analysis of findings from a recent study.

INTRODUCTION: A recent study raised concerns about e-cigarette liquids toxicity by reporting the presence of 14 flavouring chemicals with toxicity classification. However, the relevant toxicity classification was not estimated according to the measured concentrations. The purpose of this study was to calculate the toxicity classification for different health hazards for all the flavouring chemicals at the maximum concentrations reported. METHODS: The analysis was based on the European Union Classification Labelling and Packaging regulation. The concentration of each flavouring chemical was compared with the minimum concentration needed to classify it as toxic. Additionally, toxicity classification was examined for a theoretical e-cigarette liquid containing all flavouring chemicals at the maximum concentrations reported. RESULTS: There was at least one toxicity classification for all the flavouring chemicals, with the most prevalent classifications related to skin, oral, eye and respiratory toxicities. One chemical (methyl cyclopentenolone) was found at a maximum concentration 150.7% higher than that needed to be classified as toxic. For the rest, the maximum reported concentrations were 71.6 to > 99.9% lower than toxicity concentrations. A liquid containing all flavouring compounds at the maximum concentrations would be classified as toxic for one category only due to the presence of methyl cyclopentenolone; a liquid without methyl cyclopentenolone would have 66.7 to > 99.9% lower concentrations of flavourings than those needed to be classified as toxic. CONCLUSIONS: The vast majority of flavouring compounds in e-cigarette liquids as reported in a recent study were present at levels far lower than needed to classify them as toxic. Since exceptions exist, regulatory monitoring of liquid composition is warranted

Toxicity classification of e-cigarette flavouring compounds based on European Union regulation: analysis of findings from a recent study

IntroductionA recent study raised concerns about e-cigarette liquids toxicity by reporting the presence of 14 flavouring chemicals with toxicity classification. However, the relevant toxicity classification was not estimated according to the measured concentrations. The purpose of this study was to calculate the toxicity classification for different health hazards for all the flavouring chemicals at the maximum concentrations reported.MethodsThe analysis was based on the European Union Classification Labelling and Packaging regulation. The concentration of each flavouring chemical was compared with the minimum concentration needed to classify it as toxic. Additionally, toxicity classification was examined for a theoretical e-cigarette liquid containing all flavouring chemicals at the maximum concentrations reported.ResultsThere was at least one toxicity classification for all the flavouring chemicals, with the most prevalent classifications related to skin, oral, eye and respiratory toxicities. One chemical (methyl cyclopentenolone) was found at a maximum concentration 150.7% higher than that needed to be classified as toxic. For the rest, the maximum reported concentrations were 71.6 to >99.9% lower than toxicity concentrations. A liquid containing all flavouring compounds at the maximum concentrations would be classified as toxic for one category only due to the presence of methyl cyclopentenolone; a liquid without methyl cyclopentenolone would have 66.7 to >99.9% lower concentrations of flavourings than those needed to be classified as toxic.ConclusionsThe vast majority of flavouring compounds in e-cigarette liquids as reported in a recent study were present at levels far lower than needed to classify them as toxic. Since exceptions exist, regulatory monitoring of liquid composition is warranted

Pseudomonas aeruginosa Slime Glycolipoprotein Is a Potent Stimulant of Tumor Necrosis Factor Alpha Gene Expression and Activation of Transcription Activators Nuclear Factor κB and Activator Protein 1 in Human Monocytes

Pseudomonas aeruginosa, an opportunistic pathogen, causes infections associated with a high incidence of morbidity and mortality in immunocompromised hosts. Production of tumor necrosis factor alpha (TNF-α), primarily by cells of monocytic lineage, is a crucial event in the course of these infections. During in vivo infections with P. aeruginosa, both lipopolysaccharide (LPS) and extracellular slime glycolipoprotein (GLP) produced by mucoid and nonmucoid strains are released. In the present study, we sought to explore the relative contributions of these two bacterial products to TNF-α production by human monocytes. To this end, fresh human monocytes and THP-1 human monocytic cells were stimulated with P. aeruginosa LPS or GLP. GLP was found to be a more potent stimulus for TNF-α production (threefold higher) by human monocytes than LPS. Moreover, its effect was comparable to that of viable bacteria. Quantitative mRNA analysis revealed predominantly transcriptional regulation. Electrophoretic mobility shift assays and transfection assays demonstrated activation of NF-κB and activator protein 1 (AP-1). NF-κB activation by GLP was rapid and followed the same time course as that by viable bacteria, suggesting that bacteria could directly activate NF-κB through GLP. Moreover P. aeruginosa GLP induced the formation of AP-1 complex with delayed kinetics compared with NF-κB but much more efficiently than the homologous LPS. These results identify GLP as the most important stimulant for TNF-α production by human monocytes. Activation of NF-κB and AP-1 by P. aeruginosa GLP may be involved not only in TNF-α induction but also in many of the inflammatory responses triggered in the course of infection with P. aeruginosa

Insights in Pharmaceutical Pollution: The Prospective Role of eDNA Metabarcoding

Environmental pollution is a growing threat to natural ecosystems and one of the world’s most pressing concerns. The increasing worldwide use of pharmaceuticals has elevated their status as significant emerging contaminants. Pharmaceuticals enter aquatic environments through multiple pathways related to anthropogenic activity. Their high consumption, insufficient waste treatment, and the incapacity of organisms to completely metabolize them contribute to their accumulation in aquatic environments, posing a threat to all life forms. Various analytical methods have been used to quantify pharmaceuticals. Biotechnology advancements based on next-generation sequencing (NGS) techniques, like eDNA metabarcoding, have enabled the development of new methods for assessing and monitoring the ecotoxicological effects of pharmaceuticals. eDNA metabarcoding is a valuable biomonitoring tool for pharmaceutical pollution because it (a) provides an efficient method to assess and predict pollution status, (b) identifies pollution sources, (c) tracks changes in pharmaceutical pollution levels over time, (d) assesses the ecological impact of pharmaceutical pollution, (e) helps prioritize cleanup and mitigation efforts, and (f) offers insights into the diversity and composition of microbial and other bioindicator communities. This review highlights the issue of aquatic pharmaceutical pollution while emphasizing the importance of using modern NGS-based biomonitoring actions to assess its environmental effects more consistently and effectively