Genotyping with a 198 Mutation Arrayed Primer Extension Array for Hereditary Hearing Loss: Assessment of Its Diagnostic Value for Medical Practice

Molecular diagnostic testing of individuals with congenital sensorineural hearing loss typically begins with DNA sequencing of the GJB2 gene. If the cause of the hearing loss is not identified in GJB2, additional testing can be ordered. However, the step-wise analysis of several genes often results in a protracted diagnostic process. The more comprehensive Hereditary Hearing Loss Arrayed Primer Extension microarray enables analysis of 198 mutations across eight genes (GJB2, GJB6, GJB3, GJA1, SLC26A4, SLC26A5, MTRNR1 and MTTS1) in a single test. To evaluate the added diagnostic value of this microarray for our ethnically diverse patient population, we tested 144 individuals with congenital sensorineural hearing loss who were negative for biallelic GJB2 or GJB6 mutations. The array successfully detected all GJB2 changes previously identified in the study group, confirming excellent assay performance. Additional mutations were identified in the SLC26A4, SLC26A5 and MTRNR1 genes of 12/144 individuals (8.3%), four of whom (2.8%) had genotypes consistent with pathogenicity. These results suggest that the current format of this microarray falls short of adding diagnostic value beyond the customary testing of GJB2, perhaps reflecting the array's limitations on the number of mutations included for each gene, but more likely resulting from unknown genetic contributors to this phenotype. We conclude that mutations in other hearing loss associated genes should be incorporated in the array as knowledge of the etiology of hearing loss evolves. Such future modification of the flexible configuration of the Hereditary Hearing Loss Arrayed Primer Extension microarray would improve its impact as a diagnostic tool

How do risk attitudes affect measured confidence?

We examine the relationship between confidence in own absolute performance and risk attitudes using two confidence elicitation procedures: self-reported (non-incentivised) confidence and an incentivised procedure that elicits the certainty equivalent of a bet based on performance. The former procedure reproduces the “hard-easy effect” (underconfidence in easy tasks and overconfidence in hard tasks) found in a large number of studies using non-incentivised self-reports. The latter procedure produces general underconfidence, which is significantly reduced, but not eliminated when we filter out the effects of risk attitudes. Finally, we find that self-reported confidence correlates significantly with features of individual risk attitudes including parameters of individual probability weighting

Enchantment in Business Ethics Research

This article draws attention to the importance of enchantment in business ethics research. Starting from a Weberian understanding of disenchantment, as a force that arises through modernity and scientific rationality, we show how rationalist business ethics research has become disenchanted as a consequence of the normalisation of positivist, quantitative methods of inquiry. Such methods absent the relational and lively nature of business ethics research and detract from the ethical meaning that can be generated through research encounters. To address this issue, we draw on the work of political theorist and philosopher, Jane Bennett, using this to show how interpretive qualitative research creates possibilities for enchantment. We identify three opportunities for reenchanting business ethics research related to: (i) moments of novelty or disruption; (ii) deep, meaningful attachments to things studied; and (iii) possibilities for embodied, affective encounters. In conclusion, we suggest that business ethics research needs to recognise and reorient scholarship towards an appreciation of the ethical value of interpretive, qualitative research as a source of potential enchantment

A Revealed Reference Point for Prospect Theory

Without an instrument to identify the reference point, prospect theory includes a degree of freedom that makes the model difficult to falsify. To address this issue, we propose a foundation for prospect theory that advances existing approaches with three innovations. First, the reference point is not known a priori; if preferences are reference-dependent, the reference point is revealed from behavior. Second, the key preference axiom is formulated as a consistency property for attitudes towards probabilities; it entails both a revealed preference test for reference-dependence and a tool suitable for empirical measurement. Third, minimal assumptions are imposed for outcomes, thereby extending the model to general settings. By incorporating these three features we deliver general foundations for prospect theory that show how reference points can be identified and how the model can be falsified

Making the Anscombe-Aumann approach to ambiguity suitable for descriptive applications

The Anscombe-Aumann (AA) model, originally introduced to give a normative basis to expected utility, is nowadays mostly used for another purpose: to analyze deviations from expected utility due to ambiguity (unknown probabilities). The AA model makes two ancillary assumptions that do not refer to ambiguity: expected utility for risk and backward induction. These assumptions, even if normatively appropriate, fail descriptively. This paper relaxes these ancillary assumptions to avoid the descriptive violations, while maintaining AA\xe2\x80\x99s convenient mixture operation. Thus, it becomes possible to test and apply all AA-based ambiguity theories descriptively while avoiding confounds due to violated ancillary assumptions. The resulting tests use only simple stimuli, avoiding noise due to complexity. We demonstrate the latter in a simple experiment where we find that three assumptions about ambiguity, commonly made in AA theories, are violated: reference independence, universal ambiguity aversion, and weak certainty independence. The second, theoretical, part of the paper accommodates the violations found for the first ambiguity theory in the AA model\xe2\x80\x94Schmeidler\xe2\x80\x99s CEU theory\xe2\x80\x94by introducing and axiomatizing a reference dependent generalization. That is, we extend the AA ambiguity model to prospect theory

Studies on carcinogenic PAHs emission generated by vehicles and its correlation to fuel and engine types

The objective of this study was to find major PAHs produced in ambient air from the automobile exhaust as a function of fuels (diesel, petrol, and biodiesel) and engine type qualitatively and quantitatively. The recovery range was found between 30% and 70%. The study was carried out on two, three, and four wheelers. Biodiesel samples tested in the study were synthesized indigenously from different starting raw materials and analyzed for PAHs concentration in the exhaust on a Honda genset (EBK 2000AC Model). Biodiesel samples were blended with diesel in different ratio (25:75, 35:65 and 45:55) to investigate the exhaust behavior. Biodiesel was blended with Diesel the concentration of almost all PAHs reduces in comparison to pure Diesel exhaust. B(a)A and B(a) P was the common PAH found in higher concentration in almost all fuels. FTIR results indicate esterification of vegetable oil and NMR results indicate a complete conversion of oils into biodiesel

Nanomaterial-infused pozzolana portland cement composite: Exploring mechanical strength, durability, and microstructure properties

In the present investigation, a comparison of Graphene Oxide (GO) and Functionalized Multiwalled Carbon Nanotubes (FMWCNTs) incorporated in Pozzolana Portland Cement (PPC) mortar was carried out to find their influence on mechanical and durability properties. It has been observed that Pozzolana Portland Cement Carbon-Based Nano-Composites (PCCNCs) mortar has outstanding mechanical and durability properties. The finding shows that the PPC-1G (0.0015% of GO by weight % of cement) and the PPC-1C (0.0015% of FMWCNTs by weight % of cement) showed the greatest improvement in mechanical and durability performance over the curing period of 90 days (d). When PPC-1G and PPC-1C were compared with the reference (PPC-Control) sample, their compressive strengths increased by 11.67% and 8.73%, respectively. In terms of tensile splitting strength, PPC-1G and PPC-1C had shown a 26.35% and a 20.61% increment, respectively, as compared to PPC-Control. The C-S-H gel grows efficiently in the PCCNCs mortar, as per Powdered X-ray Diffraction (PXRD) data. It is possible to determine the carbonates present in the PCCNCs mortar by using Fourier Transform Infrared Spectroscopy (FT-IR). Furthermore, the microstructural behavior of PCCNCs mortar revealed by the Field Emission-Scanning Electron Microscope (FE-SEM) indicates that the production of ettringite and needle-shaped structures contributes to the enhancement of the mechanical strength and durability properties of the PCCNCs mortar. The research paves the way for incorporating GO and FMWCNTs in cement-based materials. This tremendous advancement holds enormous promise for the advancement of the building and infrastructure sectors. Implementing high-performance mortars has the potential to increase the strength, durability, and sustainability of structures, hence contributing to the development of safer and more resilient built environments.</p

Various Approaches for Targeting Colon: a Review

The colonic region of GIT has become an increasingly important site for drug delivery and absorption. This site specific delivery of drug to lower parts of the GIT is advantage for localized treatment of several colonic disease like colon cancer, crohn's disease, ulceratice colitis, IBD, diarrhea etc. colon targeted drug delivery system (CTDDS) ensure direct treatment at the disease site and avoiding the systemic side effects. It is suitable for absorption site for protein and peptide drugs. Cytochrome P450 3A class of drug metabolizing enzyme, have lower activity in colon.&nbsp; This review, mainly compares the primary approaches for (CTDDS) Colon targeted Drug Delivery system namely prodrugs, pH and time dependent systems, and microbially triggered systems, which achieved limited success and had limitations as compared with newer CDDS namely pressure controlled colonic delivery capsules, CODESTM, and osmotic controlled drug delivery which are unique in terms of achieving in vivo site specificity, and feasibility of manufacturing proces