Effects of color-enhancing glasses on color vision in congenital red-green color deficiencies

As commercially available glasses for color vision deficiency (CVD) are classified as low risk, they are not subject to stringent marketing regulations. We investigate how EnChroma and VINO glasses affect performance on the Colour Assessment and Diagnosis (CAD) test in individuals with CVD. Data were obtained from 51 individuals with red-green CVD. Blood or saliva samples were collected to examine the structure of the OPN1LW/OPN1MW array. Individuals completed the CAD test twice without glasses and once with each pair of glasses. Although there was a statistically significant effect of both glasses, only that of VINO could be considered functionally meaningful

Assessing the Interocular Symmetry of Foveal Outer Nuclear Layer Thickness in Achromatopsia

Purpose: We examine the interocular symmetry of foveal outer nuclear layer (ONL) thickness measurements in subjects with achromatopsia (ACHM). Methods: Images from 76 subjects with CNGA3- or CNGB3-associated ACHM and 42 control subjects were included in the study. Line or volume scans through the fovea of each eye were acquired using optical coherence tomography (OCT). Image quality was assessed for each image included in the analysis using a previously-described maximum tissue contrast index (mTCI) metric. Three foveal ONL thickness measurements were made by a single observer and interocular symmetry was assessed using the average of the three measurements for each eye. Results: Mean (± standard deviation) foveal ONL thickness for subjects with ACHM was 79.7 ± 18.3 μm (right eye) and 79.2 ± 18.7 μm (left eye) compared to 112.9 ± 15.2 (right eye) and 112.1 ± 13.9 μm (left eye) for controls. Foveal ONL thickness did not differ between eyes for ACHM (P = 0.636) or control subjects (P = 0.434). No significant relationship between mTCI and observer repeatability was observed for either control (P = 0.140) or ACHM (P = 0.351) images. Conclusions: While foveal ONL thickness is reduced in ACHM compared to controls, the high interocular symmetry indicates that contralateral ONL measurements could be used as a negative control in early-phase monocular treatment trials. Translational Relevance: Foveal ONL thickness can be measured using OCT images over a wide range of image quality. The interocular symmetry of foveal ONL thickness in ACHM and control populations supports the use of the non-study eye as a control for clinical trial purposes

Interocular Symmetry of Foveal Cone Topography in Congenital Achromatopsia

PURPOSE: To determine interocular symmetry of foveal cone topography in achromatopsia (ACHM) using non-confocal split-detection adaptive optics scanning light ophthalmoscopy (AOSLO). METHODS: Split-detector AOSLO images of the foveal cone mosaic were acquired from both eyes of 26 subjects (mean age 24.3 years; range 8 - 44 years, 14 females) with genetically confirmed CNGA3- or CNGB3-associated ACHM. Cones were identified within a manually delineated rod-free zone. Peak cone density (PCD) was determined using an 80 × 80 μm sampling window within the rod-free zone. The mean and standard deviation (SD) of intercell distance (ICD) were calculated to derive the coefficient of variation (CV). Cone density difference maps were generated to compare cone topography between eyes. RESULTS: PCD (mean ± SD) was 17,530 ± 9,614 cones/mm2 and 17,638 ± 9,753 cones/mm2 for right and left eyes, respectively (p = 0.677, Wilcoxon test). The mean (± SD) for ICD was 9.05 ± 2.55 µm and 9.24 ± 2.55 µm for right and left eyes, respectively (p = 0.410, paired t test). The mean (± SD) for CV of ICD was 0.16 ± 0.03 µm and 0.16 ± 0.04 µm for right and left eyes, respectively (p = 0.562, paired t test). Cone density maps demonstrated that cone topography of the ACHM fovea is non-uniform with local variations in cone density between eyes. CONCLUSIONS: These results demonstrate interocular symmetry of the foveal cone mosaic (both density and packing) in ACHM. As cone topography can differ between eyes of a subject, PCD does not completely describe the foveal cone mosaic in ACHM. Nonetheless, these findings are of value in longitudinal monitoring of patients during treatment trials and further suggest that both eyes of a given subject may have similar therapeutic potential and non-study eye can be used as a control

Inference of population splits and mixtures from genome-wide allele frequency data

Many aspects of the historical relationships between populations in a species are reflected in genetic data. Inferring these relationships from genetic data, however, remains a challenging task. In this paper, we present a statistical model for inferring the patterns of population splits and mixtures in multiple populations. In this model, the sampled populations in a species are related to their common ancestor through a graph of ancestral populations. Using genome-wide allele frequency data and a Gaussian approximation to genetic drift, we infer the structure of this graph. We applied this method to a set of 55 human populations and a set of 82 dog breeds and wild canids. In both species, we show that a simple bifurcating tree does not fully describe the data; in contrast, we infer many migration events. While some of the migration events that we find have been detected previously, many have not. For example, in the human data we infer that Cambodians trace approximately 16% of their ancestry to a population ancestral to other extant East Asian populations. In the dog data, we infer that both the boxer and basenji trace a considerable fraction of their ancestry (9% and 25%, respectively) to wolves subsequent to domestication, and that East Asian toy breeds (the Shih Tzu and the Pekingese) result from admixture between modern toy breeds and "ancient" Asian breeds. Software implementing the model described here, called TreeMix, is available at http://treemix.googlecode.comComment: 28 pages, 6 figures in main text. Attached supplement is 22 pages, 15 figures. This is an updated version of the preprint available at http://precedings.nature.com/documents/6956/version/

Analysis of factors influencing the ultrasonic fetal weight estimation

Objective: The aim of our study was the evaluation of sonographic fetal weight estimation taking into consideration 9 of the most important factors of influence on the precision of the estimation. Methods: We analyzed 820 singleton pregnancies from 22 to 42 weeks of gestational age. We evaluated 9 different factors that potentially influence the precision of sonographic weight estimation ( time interval between estimation and delivery, experts vs. less experienced investigator, fetal gender, gestational age, fetal weight, maternal BMI, amniotic fluid index, presentation of the fetus, location of the placenta). Finally, we compared the results of the fetal weight estimation of the fetuses with poor scanning conditions to those presenting good scanning conditions. Results: Of the 9 evaluated factors that may influence accuracy of fetal weight estimation, only a short interval between sonographic weight estimation and delivery (0-7 vs. 8-14 days) had a statistically significant impact. Conclusion: Of all known factors of influence, only a time interval of more than 7 days between estimation and delivery had a negative impact on the estimation

On Identifying the Optimal Number of Population Clusters via the Deviance Information Criterion

Inferring population structure using Bayesian clustering programs often requires a priori specification of the number of subpopulations, , from which the sample has been drawn. Here, we explore the utility of a common Bayesian model selection criterion, the Deviance Information Criterion (DIC), for estimating . We evaluate the accuracy of DIC, as well as other popular approaches, on datasets generated by coalescent simulations under various demographic scenarios. We find that DIC outperforms competing methods in many genetic contexts, validating its application in assessing population structure

Quality of intervention delivery in a cluster randomised controlled trial : a qualitative observational study with lessons for implementation fidelity

Abstract Background Understanding intervention fidelity is an essential part of the evaluation of complex interventions because fidelity not only affects the validity of trial findings, but also because studies of fidelity can be used to identify barriers and facilitators to successful implementation, and so provide important information about factors likely to impact the uptake of the intervention into clinical practice. Participant observation methods have been identified as being particularly valuable in studies of fidelity, yet are rarely used. This study aimed to use these methods to explore the quality of implementation of a complex intervention (Safewards) on mental health wards during a cluster randomised controlled trial. Specific aims were firstly to describe the different ways in which the intervention was implemented, and secondly to explore the contextual factors moderating the quality of intervention delivery, in order to inform ‘real world’ implementation of the intervention. Methods Safewards was implemented on 16 mental health wards in England. We used Research Assistants (RAs) trained in participant observation to record qualitative observational data on the quality of intervention delivery (n = 565 observations). At the end of the trial, two focus groups were conducted with RAs, which were used to develop the coding framework. Data were analysed using thematic analysis. Results There was substantial variation in intervention delivery between wards. We observed modifications to the intervention which were both fidelity consistent and inconsistent, and could enhance or dilute the intervention effects. We used these data to develop a typology which describes the different ways in which the intervention was delivered. This typology could be used as a tool to collect qualitative observational data about fidelity during trials. Moderators of Safewards implementation included systemic, interpersonal, and individual factors and patient responses to the intervention. Conclusions Our study demonstrates how, with appropriate training in participant observation, RAs can collect high-quality observational data about the quality of intervention delivery during a trial, giving a more complete picture of ‘fidelity’ than measurements of adherence alone. Trial registration ISRCTN registry; IRSCTN38001825 . Registered 29 August 201

First look at the five-factor model personality facet associations with sensory processing sensitivity

status: publishe

Regionalização para o cultivo do feijão no Rio Grande do Sul com base na interação genótipo x ambiente¹.

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Genome sequencing of the extinct Eurasian wild aurochs, Bos primigenius, illuminates the phylogeography and evolution of cattle

Background Domestication of the now-extinct wild aurochs, Bos primigenius, gave rise to the two major domestic extant cattle taxa, B. taurus and B. indicus. While previous genetic studies have shed some light on the evolutionary relationships between European aurochs and modern cattle, important questions remain unanswered, including the phylogenetic status of aurochs, whether gene flow from aurochs into early domestic populations occurred, and which genomic regions were subject to selection processes during and after domestication. Here, we address these questions using whole-genome sequencing data generated from an approximately 6,750-year-old British aurochs bone and genome sequence data from 81 additional cattle plus genome-wide single nucleotide polymorphism data from a diverse panel of 1,225 modern animals. Results Phylogenomic analyses place the aurochs as a distinct outgroup to the domestic B. taurus lineage, supporting the predominant Near Eastern origin of European cattle. Conversely, traditional British and Irish breeds share more genetic variants with this aurochs specimen than other European populations, supporting localized gene flow from aurochs into the ancestors of modern British and Irish cattle, perhaps through purposeful restocking by early herders in Britain. Finally, the functions of genes showing evidence for positive selection in B. taurus are enriched for neurobiology, growth, metabolism and immunobiology, suggesting that these biological processes have been important in the domestication of cattle. Conclusions This work provides important new information regarding the origins and functional evolution of modern cattle, revealing that the interface between early European domestic populations and wild aurochs was significantly more complex than previously thought